| Metadata | |
|---|---|
| ID | DOID:0060805 |
| Name | Prieto syndrome |
| Definition | A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in hemizygous mutation in the WNK3 gene on chromosome Xp11. https://www.ncbi.nlm.nih.gov/pubmed/1673297, https://www.ncbi.nlm.nih.gov/pubmed/3121220 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Prieto-Badia-Mulas syndrome [EXACT] X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome [EXACT] |
| Parent Relationships |