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<meta name="keywords" content="C0262630, easily distracted, easy distractibility, finding, high distractibility, poor attention span, problem paying attention, reduced attention span, reduced concentration span, short attention span, short concentration span, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Reduced attention span characterized by distractibility and impulsivity." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=82652
ConceptID=C0262630
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Short attention span</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82652</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0262630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Poor attention span</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Reduced concentration span (247762003); Short attention span (247762003); Reduced attention span (247762003); Short concentration span (247762003)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000736">HP:0000736</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Reduced attention span characterized by distractibility and impulsivity. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Short attention span</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868938" ref="tree=MeSH" title="MedGen record for Abnormality of mental function">Abnormality of mental function</a></span><ul><li><span class="TLline"><a href="/medgen/90932" ref="tree=MeSH" title="MedGen record for Cognitive impairment">Cognitive impairment</a></span><ul><li><span class="TLline"><a href="/medgen/1841950" ref="tree=MeSH" title="MedGen record for Reduced attention regulation">Reduced attention regulation</a></span><ul><li><span class="matched_ds">Short attention span</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_41345"><div><strong>5p partial monosomy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41345</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0010314</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/41345">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_59797"><div><strong>Dubowitz syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>59797</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0175691</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/59797">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_59799"><div><strong>Williams syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>59799</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0175702</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Williams syndrome (WS) is characterized by developmental delay, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, cardiovascular disease (supravalvar aortic stenosis, peripheral pulmonary stenosis, hypertension), connective tissue abnormalities, growth deficiency, endocrine abnormalities (early puberty, hypercalcemia, hypercalciuria, hypothyroidism), and distinctive facies. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones. Feeding difficulties often lead to poor weight gain in infancy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/59799">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_82816"><div><strong>Hyperlysinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82816</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0268553</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant (summary by Tondo et al., 2013; Houten et al., 2013).&#13; The AASS gene encodes a bifunctional enzyme: lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase. In hyperlysinemia type I, both enzymatic functions of AASS are defective; in hyperlysinemia type II, also known as saccharopinuria (268700), some of the first enzymatic function is retained (Cox, 1985; Cox et al., 1986).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82816">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_90994"><div><strong>3-methylglutaconic aciduria type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90994</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0342727</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that causes neurological problems. Beginning in infancy to early childhood, children with this condition often have delayed development of mental and motor skills (psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and spasms and weakness of the arms and legs (spastic quadriparesis). Affected individuals can also have optic atrophy, which is the breakdown (atrophy) of nerve cells that carry visual information from the eyes to the brain.\n\nIn some cases, signs and symptoms of 3-methylglutaconyl-CoA hydratase deficiency begin in adulthood, often in a person's twenties or thirties. These individuals have damage to a type of brain tissue called white matter (leukoencephalopathy). This damage likely contributes to progressive problems with speech (dysarthria), difficulty coordinating movements (ataxia), stiffness (spasticity), optic atrophy, and a decline in intellectual function (dementia).\n\nAffected individuals who show symptoms of 3-methylglutaconyl-CoA hydratase deficiency in childhood often go on to develop leukoencephalopathy and other neurological problems in adulthood.\n\nAll people with 3-methylglutaconyl-CoA hydratase deficiency accumulate large amounts of a substance called 3-methylglutaconic acid in their body fluids. As a result, they have elevated levels of acid in their blood (metabolic acidosis) and excrete large amounts of acid in their urine (aciduria). 3-methylglutaconyl-CoA hydratase deficiency is one of a group of metabolic disorders that can be diagnosed by the presence of increased levels 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with 3-methylglutaconyl-CoA hydratase deficiency also have high urine levels of another acid called 3-methylglutaric acid.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/90994">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_163235"><div><strong>Intellectual disability, X-linked 30</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163235</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0796237</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/163235">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_220983"><div><strong>Nicolaides-Baraitser syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220983</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1303073</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">SMARCA2-related Nicolaides-Baraitser syndrome (SMARCA2-NCBRS) is characterized by commonly shared dysmorphic features including sparse scalp hair, prominence of the interphalangeal joints and distal phalanges due to decreased subcutaneous fat, characteristic coarse facial features, microcephaly (typically acquired), seizures, and developmental delay / intellectual disability. Developmental delay / intellectual disability is severe in nearly half of affected individuals, moderate in one third, and mild in the remainder. Nearly one third never develop speech or language skills. Seizures are of various types and can be difficult to manage, requiring multiple anti-seizure medications to achieve reasonable control. Regression or lack of developmental progress has been noted with the onset of seizures in some affected individuals. Behavioral issues can include autistic-like features (perseveration, hyperacusis), with a minority of affected individuals being diagnosed clinically with an autism spectrum disorder. Cryptorchidism is common in males. About half of affected individuals have growth deficiency and short stature. Delayed tooth eruption with hypo- or oligodontia has also been reported. Radiographic findings may include cone-shaped epiphyses, metaphyseal flaring of the phalanges, and shortening of the phalanges, metacarpals, and/or metatarsals (especially of the 4th and 5th rays) of the hands; platyspondyly; flat intervertebral disc space; and pelvic/femoral anomalies. Rare findings include conductive hearing loss, refractive error / astigmatism, and congenital heart defects.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/220983">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_373337"><div><strong>Growth delay due to insulin-like growth factor type 1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373337</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1837475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Insulin-like growth factor I deficiency (IGF1D) is characterized by severe pre- and postnatal growth failure, sensorineural deafness, and impaired motor and intellectual development (summary by Bonapace et al., 2003).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/373337">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_373870"><div><strong>Intellectual disability, autosomal recessive 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373870</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1838023</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/373870">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_381416"><div><strong>Macrocephaly-autism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381416</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1854416</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Macrocephaly/autism syndrome is an autosomal dominant disorder characterized by increased head circumference, abnormal facial features, and delayed psychomotor development resulting in autistic behavior or mental retardation (Herman et al., 2007). Some patients may have a primary immunodeficiency disorder with recurrent infections associated with variably abnormal T- and B-cell function (Tsujita et al., 2016).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/381416">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_346658"><div><strong>Neurodegeneration with brain iron accumulation 2B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346658</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1857747</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD). Atypical neuroaxonal dystrophy (atypical NAD). PLA2G6-related dystonia-parkinsonism. INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability, ataxia, or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. Strabismus, nystagmus, and optic atrophy are common. Neuropsychiatric disturbances including impulsivity, poor attention span, hyperactivity, and emotional lability are also common. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years. PLA2G6-related dystonia-parkinsonism has a variable age of onset, but most individuals present in early adulthood with gait disturbance or neuropsychiatric changes. Affected individuals consistently develop dystonia and parkinsonism (which may be accompanied by rapid cognitive decline) in their late teens to early twenties. Dystonia is most common in the hands and feet but may be more generalized. The most common features of parkinsonism in these individuals are bradykinesia, resting tremor, rigidity, and postural instability.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346658">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_409857"><div><strong>Intellectual disability, autosomal dominant 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409857</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1969562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">MBD5 haploinsufficiency is a neurodevelopmental disorder characterized by developmental delay, intellectual disability, severe speech impairment, seizures, sleep disturbances, and abnormal behaviors. Most children lack speech entirely or have single words, short phrases, or short sentences. Seizures are present in more than 80% of children; onset is usually around age two years. Sleep disturbances, present in about 90%, can result in excessive daytime drowsiness. Abnormal behaviors can include autistic-like behaviors (80%) and self-injury and aggression (&gt;60%).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/409857">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_436306"><div><strong>Distal 10q deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436306</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2674937</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">10q26 deletion syndrome is a condition that results from the loss (deletion) of a small piece of chromosome 10 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated 10q26.\n\nThe signs and symptoms of 10q26 deletion syndrome vary widely, even among affected members of the same family. Among the more common features associated with this chromosomal change are distinctive facial features, mild to moderate intellectual disability, growth problems, and developmental delay. People with 10q26 deletion syndrome often have delayed development of speech and of motor skills such as sitting, crawling, and walking. Some have limited speech throughout life. Affected individuals may experience seizures, attention-deficit/hyperactivity disorder (ADHD), poor impulse control (impulsivity), or exhibit autistic behaviors that affect communication and social interaction.\n\nA range of facial features is seen in people with 10q26 deletion syndrome, but not all affected individuals have these features. Facial features of people with 10q26 deletion syndrome may include a prominent or beaked nose, a broad nasal bridge, a small jaw (micrognathia), malformed ears that are low set, a thin upper lip, and an unusually small head size (microcephaly). Many affected individuals have widely spaced eyes (hypertelorism) that do not look in the same direction (strabismus). Some people with this condition have a short neck with extra folds of skin (webbed neck).\n\nLess common signs and symptoms can occur in 10q26 deletion syndrome. Skeletal problems include a spine that curves to the side (scoliosis), limited movement in the elbows or other joints, or curved fifth fingers and toes (clinodactyly). Slow growth before and after birth can also occur in affected individuals. Males with this condition may have genital abnormalities, such as a small penis (micropenis), undescended testes (cryptorchidism), or the urethra opening on the underside of the penis (hypospadias). Some people with 10q26 deletion syndrome have kidney abnormalities, heart defects, breathing problems, recurrent infections, or hearing or vision problems.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/436306">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_461565"><div><strong>Chromosome 6q24-q25 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461565</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3150215</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/461565">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462153"><div><strong>CBL-related disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462153</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3150803</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) is a developmental disorder resembling Noonan syndrome (NS1; 163950) and is characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. There is extensive phenotypic heterogeneity and variable expressivity. Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia (JMML; 607785), as seen in patients with Noonan syndrome (summary by Martinelli et al., 2010 and Niemeyer et al., 2010).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462153">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462274"><div><strong>Intellectual disability, anterior maxillary protrusion, and strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462274</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3150924</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of severe intellectual disability, strabismus and anterior maxillary protrusion with vertical maxillary excess, open bite and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462274">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_481346"><div><strong>N-acetylaspartate deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481346</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3279716</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/481346">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_767287"><div><strong>Intellectual developmental disorder with autism and macrocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767287</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3554373</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">CHD8-related neurodevelopmental disorder with overgrowth (CHD8-NDD) is characterized by generalized overgrowth, developmental delay / intellectual disability (DD/ID), autism spectrum disorder (ASD), neuropsychiatric issues, neurologic problems, sleep disturbance, and gastrointestinal issues The most common findings are the development of macrocephaly (most often during infancy) and tall stature (most typically during puberty), which is often accompanied by ASD and/or DD/ID. Most, if not all, affected individuals have some degree of DD, most commonly speech and motor delays. When present, ID is most often in the mild-to-moderate range. Sleep disturbance is characterized by difficulty with both initiation (delayed sleep onset) and maintenance (frequent night awakenings) of sleep. The most common gastrointestinal issue is constipation with or without periods of diarrhea. Less common features are hypotonia (about 30% of affected individuals), seizures (10%-15%), dystonia (rare), and Chiari I malformation (rare).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/767287">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_816174"><div><strong>Chromosome 22q13 duplication syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816174</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3809844</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/816174">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934656"><div><strong>Short stature-brachydactyly-obesity-global developmental delay syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934656</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4310689</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934656">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1639327"><div><strong>Rubinstein-Taybi syndrome due to CREBBP mutations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1639327</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4551859</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. Characteristic craniofacial features include downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-related RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1639327">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1638835"><div><strong>Intellectual disability, autosomal dominant 56</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1638835</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4693389</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1638835">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1645968"><div><strong>Neurodevelopmental disorder with or without seizures and gait abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645968</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4693391</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) is an autosomal dominant disorder characterized by global developmental delay apparent from infancy or early childhood, resulting in variably impaired intellectual development that can range from profound with absent speech to mild with an ability to attend special schools. Most affected individuals show irritability, stiffness, and hypertonia early in life, which progresses to spasticity and impaired gait later. Some patients may develop seizures of variable severity early in life (summary by Martin et al., 2017).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1645968">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648498"><div><strong>Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648498</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4748135</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648498">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1675423"><div><strong>Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1675423</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5193039</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1675423">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1726802"><div><strong>Chromosome 17q11.2 deletion syndrome, 1.4Mb</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1726802</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5401456</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Approximately 5 to 20% of all patients with neurofibromatosis type I (162200) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1726802">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1740444"><div><strong>Coenzyme q10 deficiency, primary, 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1740444</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5436638</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Coenzyme Q10 deficiency-9 (COQ10D9) is an autosomal recessive disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in the first decade of life. Some patients may have additional neurologic signs and symptoms, including intellectual disability and seizures. Treatment with CoQ10 may offer clinical benefit (summary by Malicdan et al., 2018).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (607426).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1740444">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1758434"><div><strong>Neurodevelopmental disorder with speech impairment and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1758434</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5436699</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID) is characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition. Additional features include dysmorphic facies, distal limb anomalies, gastrointestinal problems or feeding difficulties, and hypotonia. The phenotypic features and severity of the disorder are variable (summary by Kummeling et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1758434">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1781649"><div><strong>Kohlschutter-Tonz syndrome-like</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1781649</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5543202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Den Hoed-de Boer-Voisin syndrome (DHDBV) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. The phenotype is reminiscent of Kohlschutter-Tonz syndrome (KTZS; 226750). More variable features of DHDBV include visual defects, behavioral abnormalities, and nonspecific involvement of other organ systems (summary by den Hoed et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1781649">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794140"><div><strong>Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794140</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5561930</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">X-linked syndromic intellectual developmental disorder with pigmentary mosaicism and coarse facies (MRXSPF) is characterized by a phenotypic triad of severe developmental delay, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. Additional clinical features may include epilepsy, orthopedic abnormalities, hypotonia, and growth abnormalities. The disorder affects both males and females (Villegas et al., 2019; Diaz et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794140">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794167"><div><strong>Developmental delay, impaired speech, and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794167</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5561957</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794167">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794214"><div><strong>Developmental delay with or without intellectual impairment or behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794214</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5562004</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB) is an autosomal dominant disorder with a nonspecific phenotype of developmental delay. Additional features may include neonatal feeding problems, hypotonia, and dysmorphic facial features (Dulovic-Mahlow et al., 2019; van Woerden et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794214">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794216"><div><strong>Neurodevelopmental disorder with impaired language and ataxia and with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794216</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5562006</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with impaired language and ataxia and with or without seizures (NEDLAS) is characterized by axial hypotonia and global developmental delay apparent in early infancy. Affected individuals have delayed walking with gait ataxia and poor language development. Behavioral abnormalities also commonly occur. The severity is highly variable: a subset of patients have a more severe phenotype with early-onset seizures resembling epileptic encephalopathy, inability to walk or speak, and hypomyelination on brain imaging (summary by Stolz et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794216">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1823968"><div><strong>Liver disease, severe congenital</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823968</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5774195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Severe congenital liver disease (SCOLIV) is an autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Affected individuals show feeding difficulties with failure to thrive and features such as jaundice, hepatomegaly, and abdominal distension. Laboratory workup is consistent with hepatic insufficiency and may also show coagulation defects, anemia, or metabolic disturbances. Cirrhosis and hypernodularity are commonly observed on liver biopsy. Many patients die of liver failure in early childhood (Moreno Traspas et al., 2022).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1823968">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1840909"><div><strong>Neurodevelopmental disorder with poor growth and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840909</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5830273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with poor growth and behavioral abnormalities (NEDGBA) is an autosomal recessive disorder characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD. Affected individuals show failure to thrive with poor overall growth; some have microcephaly. Additional features may include nonspecific facial dysmorphism, hypotonia, and feeding difficulties (Vogt et al., 2022; Meng et al., 2023).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1840909">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1857802"><div><strong>Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1857802</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5935590</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities (NEDPBA) is an autosomal recessive disorder characterized by delayed developmental milestones apparent in late infancy or early childhood, impaired intellectual development with learning difficulties, and behavioral abnormalities. Motor abnormalities, including parkinsonism and spasticity, usually develop in the third or fourth decades, although earlier onset has been reported. Some patients have seizures. There is inter- and intrafamilial variability (Kuipers et al., 2018; Al-Kasbi et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1857802">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1854654"><div><strong>Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854654</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5935628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">ReNU syndrome (RENU), also known as neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA), is characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss (Greene et al., 2024; Schot et al., 2024; Chen et al., 2024).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1854654">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816174" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 22q13 duplication syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (37)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1740444" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coenzyme q10 deficiency, primary, 9</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794214" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay with or without intellectual impairment or behavioral abnormalities</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794167" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay, impaired speech, and behavioral abnormalities</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436306" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal 10q deletion syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_59797" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dubowitz syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462274" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, anterior maxillary protrusion, and strabismus</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_409857" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1638835" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 56</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373870" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal recessive 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163235" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, X-linked 30</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1781649" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kohlschutter-Tonz syndrome-like</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381416" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrocephaly-autism syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481346" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">N-acetylaspartate deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346658" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration with brain iron accumulation 2B</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1857802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with or without seizures and gait abnormalities</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840909" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with poor growth and behavioral abnormalities</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1758434" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with speech impairment and dysmorphic facies</a></div>
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</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/36182950">The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dingemans AJM,
Truijen KMG,
van de Ven S,
Bernier R,
Bongers EMHF,
Bouman A,
de Graaff-Herder L,
Eichler EE,
Gerkes EH,
De Geus CM,
van Hagen JM,
Jansen PR,
Kerkhof J,
Kievit AJA,
Kleefstra T,
Maas SM,
de Man SA,
McConkey H,
Patterson WG,
Dobson AT,
Prijoles EJ,
Sadikovic B,
Relator R,
Stevenson RE,
Stumpel CTRM,
Heijligers M,
Stuurman KE,
Löhner K,
Zeidler S,
Lee JA,
Lindy A,
Zou F,
Tedder ML,
Vissers LELM,
de Vries BBA</span><br />
<span class="medgenPMjournal">Transl Psychiatry</span>
2022 Oct 1;12(1):421.
doi: 10.1038/s41398-022-02189-1.
<span class="bold">PMID: </span><a href="/pubmed/36182950" target="_blank">36182950</a><a href="/pmc/articles/PMC9526704" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1418481">Behavioural and developmental aspects of primary generalized myoclonic-astatic epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nolte R,
Wolff M</span><br />
<span class="medgenPMjournal">Epilepsy Res Suppl</span>
1992;6:175-83.
<span class="bold">PMID: </span><a href="/pubmed/1418481" target="_blank">1418481</a></div>
<div class="nl"><a target="_blank" href="/pubmed/526475">Operant conditioning of EEG rhythms and ritalin in the treatment of hyperkinesis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shouse MN,
Lubar JF</span><br />
<span class="medgenPMjournal">Biofeedback Self Regul</span>
1979 Dec;4(4):299-312.
doi: 10.1007/BF00998960.
<span class="bold">PMID: </span><a href="/pubmed/526475" target="_blank">526475</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22short%20attention%20span%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (3)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/38499966">The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Julia-Palacios NA,
Kuseyri Hübschmann O,
Olivella M,
Pons R,
Horvath G,
Lücke T,
Fung CW,
Wong SN,
Cortès-Saladelafont E,
Rovira-Remisa MM,
Yıldız Y,
Mercimek-Andrews S,
Assmann B,
Stevanović G,
Manti F,
Brennenstuhl H,
Jung-Klawitter S,
Jeltsch K,
Sivri HS,
Garbade SF,
García-Cazorla À,
Opladen T</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2024 May;47(3):447-462.
Epub 2024 Mar 18
doi: 10.1002/jimd.12723.
<span class="bold">PMID: </span><a href="/pubmed/38499966" target="_blank">38499966</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32909475">Gender-Based Psychosocial Differences in a Sample of Young Offenders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Arteaga A,
Fernández-Montalvo J,
Cacho R,
López-Goñi JJ</span><br />
<span class="medgenPMjournal">Int J Offender Ther Comp Criminol</span>
2021 Sep;65(12):1390-1405.
Epub 2020 Sep 10
doi: 10.1177/0306624X20952403.
<span class="bold">PMID: </span><a href="/pubmed/32909475" target="_blank">32909475</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32654593">Clinical correlates of laterality among school-age children in the United States.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lu N,
Rigsby DC,
Keim SA,
Rapoport E,
Adesman A</span><br />
<span class="medgenPMjournal">Laterality</span>
2020 Sep;25(5):620-639.
Epub 2020 Jul 13
doi: 10.1080/1357650X.2020.1788051.
<span class="bold">PMID: </span><a href="/pubmed/32654593" target="_blank">32654593</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22949032">Interactive performance and focus groups with adolescents: the power of play.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Norris AE,
Aroian KJ,
Warren S,
Wirth J</span><br />
<span class="medgenPMjournal">Res Nurs Health</span>
2012 Dec;35(6):671-9.
Epub 2012 Sep 4
doi: 10.1002/nur.21509.
<span class="bold">PMID: </span><a href="/pubmed/22949032" target="_blank">22949032</a><a href="/pmc/articles/PMC3520482" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21412896">Non-surgical interventions for convergence insufficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Scheiman M,
Gwiazda J,
Li T</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2011 Mar 16;(3):CD006768.
doi: 10.1002/14651858.CD006768.pub2.
<span class="bold">PMID: </span><a href="/pubmed/21412896" target="_blank">21412896</a><a href="/pmc/articles/PMC4278667" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20attention%20span%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (48)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38499966">The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Julia-Palacios NA,
Kuseyri Hübschmann O,
Olivella M,
Pons R,
Horvath G,
Lücke T,
Fung CW,
Wong SN,
Cortès-Saladelafont E,
Rovira-Remisa MM,
Yıldız Y,
Mercimek-Andrews S,
Assmann B,
Stevanović G,
Manti F,
Brennenstuhl H,
Jung-Klawitter S,
Jeltsch K,
Sivri HS,
Garbade SF,
García-Cazorla À,
Opladen T</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2024 May;47(3):447-462.
Epub 2024 Mar 18
doi: 10.1002/jimd.12723.
<span class="bold">PMID: </span><a href="/pubmed/38499966" target="_blank">38499966</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23622177">Angelman syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kyllerman M</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2013;111:287-90.
doi: 10.1016/B978-0-444-52891-9.00032-4.
<span class="bold">PMID: </span><a href="/pubmed/23622177" target="_blank">23622177</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20093075">An auditory oddball brain-computer interface for binary choices.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Halder S,
Rea M,
Andreoni R,
Nijboer F,
Hammer EM,
Kleih SC,
Birbaumer N,
Kübler A</span><br />
<span class="medgenPMjournal">Clin Neurophysiol</span>
2010 Apr;121(4):516-23.
Epub 2010 Jan 22
doi: 10.1016/j.clinph.2009.11.087.
<span class="bold">PMID: </span><a href="/pubmed/20093075" target="_blank">20093075</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2648854">Psychopathology in fragile X syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hagerman RJ,
Sobesky WE</span><br />
<span class="medgenPMjournal">Am J Orthopsychiatry</span>
1989 Jan;59(1):142-52.
doi: 10.1111/j.1939-0025.1989.tb01641.x.
<span class="bold">PMID: </span><a href="/pubmed/2648854" target="_blank">2648854</a></div>
<div class="nl"><a target="_blank" href="/pubmed/622559">Newborn minor physical anomalies predict short attention span, peer aggression, and impulsivity at age 3.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Waldrop MF,
Bell RQ,
McLaughlin B,
Halverson CF Jr</span><br />
<span class="medgenPMjournal">Science</span>
1978 Feb 3;199(4328):563-5.
doi: 10.1126/science.622559.
<span class="bold">PMID: </span><a href="/pubmed/622559" target="_blank">622559</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20attention%20span%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (52)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/22541665">Pharmacotherapy of autism spectrum disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Benvenuto A,
Battan B,
Porfirio MC,
Curatolo P</span><br />
<span class="medgenPMjournal">Brain Dev</span>
2013 Feb;35(2):119-27.
Epub 2012 Apr 25
doi: 10.1016/j.braindev.2012.03.015.
<span class="bold">PMID: </span><a href="/pubmed/22541665" target="_blank">22541665</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21412896">Non-surgical interventions for convergence insufficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Scheiman M,
Gwiazda J,
Li T</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2011 Mar 16;(3):CD006768.
doi: 10.1002/14651858.CD006768.pub2.
<span class="bold">PMID: </span><a href="/pubmed/21412896" target="_blank">21412896</a><a href="/pmc/articles/PMC4278667" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21034789">Psychopharmacology in autism: an update.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Canitano R,
Scandurra V</span><br />
<span class="medgenPMjournal">Prog Neuropsychopharmacol Biol Psychiatry</span>
2011 Jan 15;35(1):18-28.
Epub 2010 Oct 27
doi: 10.1016/j.pnpbp.2010.10.015.
<span class="bold">PMID: </span><a href="/pubmed/21034789" target="_blank">21034789</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20093075">An auditory oddball brain-computer interface for binary choices.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Halder S,
Rea M,
Andreoni R,
Nijboer F,
Hammer EM,
Kleih SC,
Birbaumer N,
Kübler A</span><br />
<span class="medgenPMjournal">Clin Neurophysiol</span>
2010 Apr;121(4):516-23.
Epub 2010 Jan 22
doi: 10.1016/j.clinph.2009.11.087.
<span class="bold">PMID: </span><a href="/pubmed/20093075" target="_blank">20093075</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3286714">The what, why and how of hyperkinesis: implications for nursing.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Porter LS</span><br />
<span class="medgenPMjournal">J Adv Nurs</span>
1988 Mar;13(2):229-36.
doi: 10.1111/j.1365-2648.1988.tb01412.x.
<span class="bold">PMID: </span><a href="/pubmed/3286714" target="_blank">3286714</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20attention%20span%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (23)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38499966">The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Julia-Palacios NA,
Kuseyri Hübschmann O,
Olivella M,
Pons R,
Horvath G,
Lücke T,
Fung CW,
Wong SN,
Cortès-Saladelafont E,
Rovira-Remisa MM,
Yıldız Y,
Mercimek-Andrews S,
Assmann B,
Stevanović G,
Manti F,
Brennenstuhl H,
Jung-Klawitter S,
Jeltsch K,
Sivri HS,
Garbade SF,
García-Cazorla À,
Opladen T</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2024 May;47(3):447-462.
Epub 2024 Mar 18
doi: 10.1002/jimd.12723.
<span class="bold">PMID: </span><a href="/pubmed/38499966" target="_blank">38499966</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7787388">Behaviour problems in Angelman syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Summers JA,
Allison DB,
Lynch PS,
Sandler L</span><br />
<span class="medgenPMjournal">J Intellect Disabil Res</span>
1995 Apr;39 ( Pt 2):97-106.
doi: 10.1111/j.1365-2788.1995.tb00477.x.
<span class="bold">PMID: </span><a href="/pubmed/7787388" target="_blank">7787388</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1418481">Behavioural and developmental aspects of primary generalized myoclonic-astatic epilepsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nolte R,
Wolff M</span><br />
<span class="medgenPMjournal">Epilepsy Res Suppl</span>
1992;6:175-83.
<span class="bold">PMID: </span><a href="/pubmed/1418481" target="_blank">1418481</a></div>
<div class="nl"><a target="_blank" href="/pubmed/526475">Operant conditioning of EEG rhythms and ritalin in the treatment of hyperkinesis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shouse MN,
Lubar JF</span><br />
<span class="medgenPMjournal">Biofeedback Self Regul</span>
1979 Dec;4(4):299-312.
doi: 10.1007/BF00998960.
<span class="bold">PMID: </span><a href="/pubmed/526475" target="_blank">526475</a></div>
<div class="nl"><a target="_blank" href="/pubmed/622559">Newborn minor physical anomalies predict short attention span, peer aggression, and impulsivity at age 3.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Waldrop MF,
Bell RQ,
McLaughlin B,
Halverson CF Jr</span><br />
<span class="medgenPMjournal">Science</span>
1978 Feb 3;199(4328):563-5.
doi: 10.1126/science.622559.
<span class="bold">PMID: </span><a href="/pubmed/622559" target="_blank">622559</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20attention%20span%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (20)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38499966">The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Julia-Palacios NA,
Kuseyri Hübschmann O,
Olivella M,
Pons R,
Horvath G,
Lücke T,
Fung CW,
Wong SN,
Cortès-Saladelafont E,
Rovira-Remisa MM,
Yıldız Y,
Mercimek-Andrews S,
Assmann B,
Stevanović G,
Manti F,
Brennenstuhl H,
Jung-Klawitter S,
Jeltsch K,
Sivri HS,
Garbade SF,
García-Cazorla À,
Opladen T</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2024 May;47(3):447-462.
Epub 2024 Mar 18
doi: 10.1002/jimd.12723.
<span class="bold">PMID: </span><a href="/pubmed/38499966" target="_blank">38499966</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36182950">The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dingemans AJM,
Truijen KMG,
van de Ven S,
Bernier R,
Bongers EMHF,
Bouman A,
de Graaff-Herder L,
Eichler EE,
Gerkes EH,
De Geus CM,
van Hagen JM,
Jansen PR,
Kerkhof J,
Kievit AJA,
Kleefstra T,
Maas SM,
de Man SA,
McConkey H,
Patterson WG,
Dobson AT,
Prijoles EJ,
Sadikovic B,
Relator R,
Stevenson RE,
Stumpel CTRM,
Heijligers M,
Stuurman KE,
Löhner K,
Zeidler S,
Lee JA,
Lindy A,
Zou F,
Tedder ML,
Vissers LELM,
de Vries BBA</span><br />
<span class="medgenPMjournal">Transl Psychiatry</span>
2022 Oct 1;12(1):421.
doi: 10.1038/s41398-022-02189-1.
<span class="bold">PMID: </span><a href="/pubmed/36182950" target="_blank">36182950</a><a href="/pmc/articles/PMC9526704" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32909475">Gender-Based Psychosocial Differences in a Sample of Young Offenders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Arteaga A,
Fernández-Montalvo J,
Cacho R,
López-Goñi JJ</span><br />
<span class="medgenPMjournal">Int J Offender Ther Comp Criminol</span>
2021 Sep;65(12):1390-1405.
Epub 2020 Sep 10
doi: 10.1177/0306624X20952403.
<span class="bold">PMID: </span><a href="/pubmed/32909475" target="_blank">32909475</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21412896">Non-surgical interventions for convergence insufficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Scheiman M,
Gwiazda J,
Li T</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2011 Mar 16;(3):CD006768.
doi: 10.1002/14651858.CD006768.pub2.
<span class="bold">PMID: </span><a href="/pubmed/21412896" target="_blank">21412896</a><a href="/pmc/articles/PMC4278667" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/622559">Newborn minor physical anomalies predict short attention span, peer aggression, and impulsivity at age 3.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Waldrop MF,
Bell RQ,
McLaughlin B,
Halverson CF Jr</span><br />
<span class="medgenPMjournal">Science</span>
1978 Feb 3;199(4328):563-5.
doi: 10.1126/science.622559.
<span class="bold">PMID: </span><a href="/pubmed/622559" target="_blank">622559</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Short%20attention%20span%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (49)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/21412896">Non-surgical interventions for convergence insufficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Scheiman M,
Gwiazda J,
Li T</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2011 Mar 16;(3):CD006768.
doi: 10.1002/14651858.CD006768.pub2.
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