| Metadata | |
|---|---|
| ID | DOID:0060820 |
| Name | syndromic X-linked intellectual disability Nascimento type |
| Definition | A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24. https://www.ncbi.nlm.nih.gov/pubmed/16909393, https://www.ncbi.nlm.nih.gov/pubmed/20412111 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
mental retardation, X-linked syndromic, Nascimento-type [EXACT] X-linked intellectual disability-nail dystrophy-seizures syndrome [EXACT] |
| Parent Relationships |