polymicrogyria with optic nerve hypoplasia
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015220
obsolete syndrome with a central nervous system malformation as major feature (obsolete MONDO:0015220)
excluded_subClassOf
MONDO:0015310
obsolete syndromic optic nerve hypoplasia (obsolete MONDO:0015310)
excluded_subClassOf
MONDO:0015655
obsolete cerebral malformation with epilepsy (obsolete MONDO:0015655)
excluded_subClassOf
MONDO:0000904
complex cortical dysplasia with other brain malformations
is_a
CDCBM8
related
polymicrogyria with optic nerve hypoplasia
exact