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GTR Home > Conditions/Phenotypes > X-linked intellectual disability Cabezas type

X-linked intellectual disability Cabezas type

Synonyms
CABEZAS SYNDROME; Intellectual developmental disorder, X-linked syndromic, Cabezas type; MENTAL RETARDATION, X-LINKED, SYNDROMIC 15; Mental Retardation, X-Linked, with Short Stature, Small Testes, Muscle Wasting, and Tremor; Mental retardation with short stature, hypogonadism and abnormal gait, X-linked
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

The Cabezas type of X-linked syndromic intellectual developmental disorder is characterized primarily by short stature, hypogonadism, and abnormal gait, with other more variable features such as speech delay, prominent lower lip, and tremor (Cabezas et al., 2000). [from OMIM]

Available tests

46 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (46 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CUL-4B, MRXHF2, MRXS15, MRXSC, SFM2, CUL4B
    Summary: cullin 4B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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