| Metadata | |
|---|---|
| ID | DOID:0060821 |
| Name | syndromic X-linked intellectual disability 14 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/17704778, https://www.ncbi.nlm.nih.gov/pubmed/22957832 |
| Xrefs |
SNOMEDCT_US_2023_03_01:422437002 |
| Subsets |
DO_rare_slim |
| Synonyms |
mental retardation, X-linked, syndromic 14 [EXACT] |
| Parent Relationships |