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Optic nerve hypoplasia and abnormalities of the central nervous system

MedGen UID:: 347233
•Concept ID:: C1859774
•: Disease or Syndrome

Synonym:	Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System

OMIM®:	184429; 206900

Recent clinical studies

Etiology

Incidence and associated endocrine and neurologic abnormalities of optic nerve hypoplasia.

Mohney BG, Young RC, Diehl N
JAMA Ophthalmol 2013 Jul;131(7):898-902. doi: 10.1001/jamaophthalmol.2013.65. PMID: 23640309 Free PMC Article

Diagnosis

Ocular Phenotype Associated with DYRK1A Variants.

Méjécase C, Way CM, Owen N, Moosajee M
Genes (Basel) 2021 Feb 5;12(2) doi: 10.3390/genes12020234. PMID: 33562844 Free PMC Article

Hypothalamic dysfunction without hamartomas causing gelastic seizures in optic nerve hypoplasia.

Fink C, Borchert M, Simon CZ, Saper C
J Child Neurol 2015 Feb;30(2):233-7. Epub 2014 Apr 2 doi: 10.1177/0883073814527156. PMID: 24700666

Incidence and associated endocrine and neurologic abnormalities of optic nerve hypoplasia.

Mohney BG, Young RC, Diehl N
JAMA Ophthalmol 2013 Jul;131(7):898-902. doi: 10.1001/jamaophthalmol.2013.65. PMID: 23640309 Free PMC Article

Incidental discovery of subtle-variant septooptic dysplasia in an adult with headaches: a novel case with pathophysiologic implications.

Corliss BM, Small JE
Clin Imaging 2013 Jul-Aug;37(4):753-5. Epub 2013 Jan 17 doi: 10.1016/j.clinimag.2012.12.001. PMID: 23333409

Prognosis

Incidence and associated endocrine and neurologic abnormalities of optic nerve hypoplasia.

Mohney BG, Young RC, Diehl N
JAMA Ophthalmol 2013 Jul;131(7):898-902. doi: 10.1001/jamaophthalmol.2013.65. PMID: 23640309 Free PMC Article

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Optic nerve hypoplasia and abnormalities of the central nervous system
Optic nerve hypoplasia and abnormalities of the central nervous system

MedGen
C1859774[conceptid] (1)
MedGen
C1833798[trait identifier] AND "OMIM"[submitter] (1)
ClinVar
Optic nerve aplasia, bilateral
Optic nerve aplasia, bilateral

MedGen
C1833798[conceptid] (1)
MedGen

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