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syndromic X-linked intellectual disability Cabezas type
Summary
- Synonym
-
- Cabezas syndrome; syndromic X-linked mental retardation 15
- MRSS
- MRXS15
- MRXSC
- X-linked mental retardation with short stature
- X-linked mental retardation with short stature, hypogonadism, and abnormal gait
- mental retardation, X-linked, syndromic 15
- mental retardation, X-linked, syndromic 15 (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.
- Super Class
- syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0060822
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
