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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 bnormal 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 (Cabezas type),
Echinobase Genes
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| MIM:300354 - mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee