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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 the ARHGEF2 gene on chromosome 1q22. https://www.ncbi.nlm.nih.gov/pubmed/28453519
Xrefs	MIM:617523
Synonyms	NEDMHM [EXACT]
Parent Relationships	is_a syndromic intellectual disability is_a autosomal recessive disease
Subclass Logical Relationships	has phenotype some Neurodevelopmental delay has material basis in some autosomal recessive inheritance