Version: 8.0.0
Date: Tue Jan 28 2025
Prieto syndrome
DOID:0060805
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • Prieto-Badia-Mulas syndrome
  • X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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