Term Name: neurodevelopmental disorder with midbrain and hindbrain malformations
Synonyms: NEDMHM
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.
Ontology: Human Disease [DOID:0080312]   ( DOID:0080312 )

Relationships
is a type of: autosomal recessive disease syndromic intellectual disability