NDE1-related microhydranencephaly https://www.malacards.org/card/microhydranencephaly https://www.malacards.org/card/nde1_related_microhydranencephaly UMLS:C1857977 MESH:C537555 hydranencephaly and microcephaly MONDO:0011504 Orphanet:443162 microhydranencephaly 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. GARD:0010216 OMIM:605013 MEDGEN:341899 MHAC sporadic fetal brain disruption sequence microcephaly with lissencephaly and/or hydranencephaly