Term Name: | neurodevelopmental disorder with midbrain and hindbrain malformations |
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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 ) |