FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Prieto syndrome ID (Ontology) DOID:0060805 (Human Disease)
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.
Also Known As "Prieto-Badia-Mulas syndrome" ; "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome"
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 Genes
 Prieto syndrome       1
 for disease ribbon | Prieto syndrome       1
 model of | Prieto syndrome       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__syndromic X-linked intellectual disability__
 |__X-linked recessive disease__________________|
syndromic intellectual disability               |
 |__syndromic X-linked intellectual disability__|
                                                Prieto syndrome  1 rec.
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Is a syndromic X-linked intellectual disability
X-linked recessive disease
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Synonyms
  • "Prieto-Badia-Mulas syndrome" EXACT
    "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome" EXACT
Secondary IDs
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MIM:309610
ORDO:2958