Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type

**Semantic type:** Disease or Syndrome

**Definition:** An X-linked recessive condition caused by mutations(s) in the CUL4B gene on chromosome Xq23, encoding a core component of the E3 ubiquitin ligase complex. It is characterized by short stature, hypogonadism, and abnormal gait.

**Synonyms:** - Cabezas Syndrome - MRSS - MRXS15 - MRXSC - Mental Retardation, X-Linked, Syndromic 15 - Mental Retardation, X-Linked, Syndromic, Cabezas Type - Mental Retardation, X-Linked, with Short Stature - Mental Retardation, X-Linked, with Short Stature, Hypogonadism, and Abnormal Gait