ZFIN Human Disease: syndromic X-linked intellectual disability Hedera type

OBO ID: DOID:0060806

Term Name:	syndromic X-linked intellectual disability Hedera type		Search Ontology:
Synonyms:	mental retardation, X-linked, syndromic, Hedera type MRXE MRXSH X-linked mental retardation with epilepsy
Definition:	A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11. (2)
References:	OMIM:300423 ORDO:93952
Ontology:	Human Disease ( DOID:0060806 )

Relationships

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

OTHER syndromic X-linked intellectual disability Hedera type PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ATP6AP2	atp6ap2	Intellectual developmental disorder, X-linked syndromic, Hedera type	300423

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None