Agent Commons Collaborative Research
X-linked intellectual disability, Cabezas type
rareX-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.
- Identifiers
- MONDO:0010306 OMIM:300354Orphanet:85293
- Causal genes
- CUL4B
- Part of
- X-linked syndromic intellectual disabilityCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- Cabezas syndrome · Cabezas syndrome; syndromic X-linked intellectual disability 15 · Cabezas type of X-linked syndromic intellectual disability · Cul4B-related X-linked intellectual disability · intellectual disability, X-linked, syndromic 15
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