Summary Literature (0)

DOID:0060822 - syndromic X-linked intellectual disability Cabezas type

Disease Ontology Definition:A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq24.

Synonyms: Cabezas syndrome; syndromic X-linked mental retardation 15, mental retardation, X-linked, syndromic 15, mental retardation, X-linked, syndromic 15 (Cabezas type), MRSS, MRXS15, MRXSC, X-linked mental retardation with short stature, X-linked mental retardation with short stature, hypogonadism, and abnormal gait

Xenbase Genes : cul4b

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010306 - X-linked intellectual disability, Cabezas type

MIM:

MIM:300354 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee