ZFIN Human Disease: autosomal dominant intellectual developmental disorder 46

OBO ID: DOID:0080237

Term Name:	autosomal dominant intellectual developmental disorder 46		Search Ontology:
Synonyms:	autosomal dominant mental retardation 46
Definition:	An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14. https://pubmed.ncbi.nlm.nih.gov/28669405/
References:	OMIM:617601
Ontology:	Human Disease ( DOID:0080237 )

Relationships

is a type of:	autosomal dominant intellectual developmental disorder autosomal dominant intellectual developmental disorder Show first 5 Terms

OTHER autosomal dominant intellectual developmental disorder 46 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
KCNQ5	kcnq5a kcnq5b	Intellectual developmental disorder, autosomal dominant 46	617601

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None