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Metadata
ID DOID:0060809
Name syndromic X-linked intellectual disability Claes-Jensen type
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 behavioural problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11.
https://www.ncbi.nlm.nih.gov/pubmed/10982473, https://www.ncbi.nlm.nih.gov/pubmed/15586325
Xrefs

ICD10CM:Q87.8

OMIM:300534

ORDO:85279

Synonyms

mental retardation, X-linked, syndromic, Claes-Jensen type [EXACT]

MRXSCJ [EXACT]

MRXSJ [EXACT]

syndromic X-linked intellectual disability due to JARID1C mutation [EXACT]

syndromic X-linked mental retardation JARID1C-related [EXACT]

Parent Relationships

is_a X-linked recessive disease

is_a syndromic X-linked intellectual disability

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