Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0060805 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models