WormBase Tree Display for DO_term: DOID:0060821
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| DOID:0060821 | Name | syndromic X-linked intellectual disability 14 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24. | ||||
| Synonym | Exact | mental retardation, X-linked, syndromic 14 | |||
| Parent | Is_a | DOID:0060309 | |||
| DB_info | Database | OMIM | disease | 300676 | |
| Attribute_of | Gene_by_orthology | WBGene00004882 |
