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General Information
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| Term |
syndromic X-linked intellectual disability Cabezas type |
ID (Ontology) |
DOID:0060822 (Human Disease) |
| 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. |
| Also Known As |
"Cabezas syndrome; syndromic X-linked mental retardation 15" ; "mental retardation, X-linked, syndromic 15" ; "mental retardation, X-linked, syndromic 15 (Cabezas type)" (for all, see Synonyms field below) |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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syndromic X-linked intellectual disability Cabezas type | 1 | for disease ribbon | syndromic X-linked intellectual disability Cabezas type | 1 | model of | syndromic X-linked intellectual disability Cabezas type | 1 |
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Relationships