NDE1-related microhydranencephaly

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Synonyms: MHAC

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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