Pachygyria-intellectual disability-epilepsy syndrome- MedGen UID:
- 333107
- •Concept ID:
- C1838491
- •
- Disease or Syndrome
This autosomal recessive neurodevelopmental disorder is characterized by pachygyria, impaired intellectual development, seizures, and diffuse localization of arachnoid cysts. It most likely represents a neuronal migration disorder within the lissencephaly spectrum (summary by Guzel et al., 2007).
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2- MedGen UID:
- 907651
- •Concept ID:
- C4225203
- •
- Disease or Syndrome
UNC80 deficiency is characterized by developmental delay, neonatal hypotonia, severe intellectual disability, dysmorphic facial features, strabismus, dyskinetic limb movements, and neurobehavioral manifestations. The majority of individuals do not learn to walk. All individuals lack expressive speech; however, many have expressive body language, and a few have used signs to communicate. Seizures may develop during infancy or childhood. Additional common features include clubfeet, joint contractures, scoliosis, postnatal growth deficiency, increased risk of infections, sleeping difficulties, and constipation. Individuals have slow acquisition of developmental skills and do not have features suggestive of neurodegeneration.