ZFIN Human Disease: non-syndromic X-linked intellectual disability 30

OBO ID: DOID:0112051

Term Name:	non-syndromic X-linked intellectual disability 30		Search Ontology:
Synonyms:	MRX30 MRX47 X-linked mental retardation 30 X-linked mental retardation 30/47 X-linked mental retardation 47
Definition:	A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disablity that has_material_basis_in hemizygous mutation in PAK3 on chromosome Xq23. (3)
References:	OMIM:300558
Ontology:	Human Disease (DOID:0112051)

Relationships

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

OTHER non-syndromic X-linked intellectual disability 30 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PAK3		Intellectual developmental disorder, X-linked 30	300558

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None