syndromic X-linked intellectual disability Cabezas type

Summary

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 Xq23.

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cul4b

Mondo Disease Ontology (on Monarch Initiative):

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

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

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

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

Parent(s): syndromic X-linked intellectual disability (is_a)