Term Name: | Prieto syndrome |
---|---|
Synonyms: | Prieto-Badia-Mulas syndrome, X-linked intellectual disability-dysmorphism-cerebral atrophy 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. |
Ontology: | Human Disease [DOID:0060805] ( DOID:0060805 ) |