ZFIN Human Disease: syndromic X-linked intellectual disability Claes-Jensen type

OBO ID: DOID:0060809

Term Name:	syndromic X-linked intellectual disability Claes-Jensen type		Search Ontology:
Synonyms:	mental retardation, X-linked, syndromic, Claes-Jensen type MRXSCJ MRXSJ syndromic X-linked intellectual disability due to JARID1C mutation syndromic X-linked mental retardation JARID1C-related
Definition:	A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11. (2)
References:	ICD10CM:Q87.8 OMIM:300534 ORDO:85279
Ontology:	Human Disease ( DOID:0060809 )

Relationships

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

OTHER syndromic X-linked intellectual disability Claes-Jensen type PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
KDM5C	kdm5c	Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type	300534

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None