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DOID:0060805 - Prieto syndrome
Disease Ontology 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.
Synonyms: Prieto-Badia-Mulas syndrome, X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome,
Xenbase Genes :
MONDO:0010667 - Prieto syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee