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NDE1-related microhydranencephaly

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.
Uniprot Description A severe neurodevelopmental disorder characterized by microcephaly, severe motor and mental retardation, spasticity, and brain malformations that include gross dilation of the ventricles with complete absence of the cerebral hemispheres or severe delay in their development.
Mondo Term and Equivalent IDs
MONDO:0011504:  NDE1-related microhydranencephaly
GARD:0010216: 
MESH:C537555: 
Orphanet:443162: 
UMLS:C1857977: