syndromic X-linked intellectual disability Cabezas type

Term ID

DOID:0060822

Synonyms

• Cabezas syndrome; syndromic X-linked mental retardation 15
• mental retardation, X-linked, syndromic 15
• mental retardation, X-linked, syndromic 15 (Cabezas type)
• MRSS
• MRXS15
• MRXSC
• X-linked mental retardation with short stature
• X-linked mental retardation with short stature, hypogonadism, and abnormal gait

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. (2)

References

• GARD:13244
• ICD10CM:Q87.8
• OMIM:300354
• ORDO:85293

Ontology

Human Disease   ( DOID:0060822 )