OBO ID: DOID:0080312
Term Name: neurodevelopmental disorder with midbrain and hindbrain malformations Search Ontology:
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 ARHGEF2 on chromosome 1q22. https://www.ncbi.nlm.nih.gov/pubmed/28453519
References:
Ontology: Human Disease   (DOID:0080312)
OTHER neurodevelopmental disorder with midbrain and hindbrain malformations PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ARHGEF2 ?Neurodevelopmental disorder with midbrain and hindbrain malformations 617523
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None