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Metadata
ID DOID:0060822
Name syndromic X-linked intellectual disability Cabezas type
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.
https://www.ncbi.nlm.nih.gov/pubmed/10978355, https://www.ncbi.nlm.nih.gov/pubmed/17236139
Xrefs

GARD:13244

ICD10CM:Q87.8

OMIM:300354

ORDO:85293

Subsets

DO_rare_slim

Synonyms

Cabezas syndrome; syndromic X-linked mental retardation 15 [EXACT]

mental retardation, X-linked, syndromic 15 (Cabezas type) [EXACT]

mental retardation, X-linked, syndromic 15 [EXACT]

MRSS [EXACT]

MRXS15 [EXACT]

MRXSC [EXACT]

X-linked mental retardation with short stature [EXACT]

X-linked mental retardation with short stature, hypogonadism, and abnormal gait [EXACT]

Parent Relationships

is_a syndromic X-linked intellectual disability

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