ZFIN Human Disease: neurodevelopmental disorder with midbrain and hindbrain malformations

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 the ARHGEF2 gene on chromosome 1q22. https://www.ncbi.nlm.nih.gov/pubmed/28453519
References:	OMIM:617523
Ontology:	Human Disease ( DOID:0080312 )

Relationships

is a type of:	autosomal recessive disease syndromic intellectual disability autosomal recessive disease syndromic intellectual disability Show first 5 Terms

OTHER neurodevelopmental disorder with midbrain and hindbrain malformations PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ARHGEF2	arhgef2	?Neurodevelopmental disorder with midbrain and hindbrain malformations	617523

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None