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polymicrogyria with optic nerve hypoplasia

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.
Uniprot Description A disease characterized by extensive polymicrogyria, optic nerve hypoplasia, severe developmental delay, hypotonia, seizures, a dysplastic or absent corpus callosum and colpocephaly. Polymicrogyria is a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization.
Mondo Term and Equivalent IDs
MONDO:0013172:  polymicrogyria with optic nerve hypoplasia
MESH:C567715: 
Orphanet:250972: 
UMLS:C2750798: