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X-Linked Intellectual Disability, Cabezas Type (MONDO:0010306)

Open Trait in OLS

X-linked intellectual disability, Cabezas type is characterized by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 region of the X chromosome.

Overview

Category

syndromic disease

nervous system disorder

Ontology ID

Internal:11476

Synonyms

Cabezas syndrome

Cabezas syndrome; syndromic X-linked intellectual disability 15

MRSS

MRXS15

MRXSC

X-linked intellectual disability with short stature

X-linked intellectual disability with short stature, hypogonadism, and abnormal gait

X-linked intellectual disability, Cabezas type

intellectual disability, X-linked, syndromic 15 (Cabezas type)

intellectual disability, X-linked, with short stature

mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive

mental retardation, X-linked, with short stature

syndromic X-linked intellectual disability Cabezas type

Cabezas type of X-linked syndromic intellectual disability

Cul4B-related X-linked intellectual disability

intellectual disability, X-linked, syndromic 15

intellectual disability, X-linked, syndromic, Cabezas type

intellectual disability, X-linked, with short stature, hypogonadism, and abnormal Gait

mental retardation, X-linked, syndromic 15

mental retardation, X-linked, syndromic, Cabezas type

mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait

Mapped terms

DOID:0060822

GARD:0013244

MEDGEN:337334

OMIM:300354

Orphanet:85293

SCTID:719811001

UMLS:C1845861

Child terms

Unknown children.