Disease

syndromic X-linked intellectual disability 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 Xq24.

Synonyms

Cabezas syndrome; syndromic X-linked mental retardation 15
mental retardation, X-linked, syndromic 15

Cross References

Parent Terms

syndromic X-linked intellectual disability

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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