Prieto syndrome

Term ID

DOID:0060805

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. (2)

References

• MIM:309610
• ORDO:2958

Ontology

Human Disease   ( DOID:0060805 )