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Metadata
ID DOID:0080312
Name neurodevelopmental disorder with midbrain and hindbrain malformations
Definition A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in ARHGEF2 on chromosome 1q22.
https://www.ncbi.nlm.nih.gov/pubmed/28453519
Xrefs

OMIM:617523

Synonyms

NEDMHM [EXACT]

Parent Relationships

is_a syndromic intellectual disability

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