neurodevelopmental disorder with midbrain and hindbrain malformations

Term ID

DOID:0080312

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. https://www.ncbi.nlm.nih.gov/pubmed/28453519

References

• OMIM:617523

Ontology

Human Disease   ( DOID:0080312 )