ZFIN Human Disease: non-syndromic X-linked intellectual disability 63

OBO ID: DOID:0112050

Term Name:	non-syndromic X-linked intellectual disability 63		Search Ontology:
Synonyms:	ACSL4-related intellectual disability MRX63 MRX68 X-linked mental retardation 63 X-linked mental retardation 68
Definition:	A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23. (2)
References:	GARD:5613 OMIM:300387
Ontology:	Human Disease ( DOID:0112050 )

Relationships

is a type of:	non-syndromic X-linked intellectual disability X-linked dominant disease non-syndromic X-linked intellectual disability X-linked dominant disease Show first 5 Terms

OTHER non-syndromic X-linked intellectual disability 63 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ACSL4	acsl4a acsl4b	Intellectual developmental disorder, X-linked 63	300387

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None