Prieto syndrome

Summary
Synonym
  • 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 variation in the chromosome region Xp11-q21.
Super Class
X-linked recessive disease syndromic X-linked intellectual disability
Disease Ontology
DOID:0060805
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
65267 WNK3 WNK lysine deficient protein kinase 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
279561 Wnk3 WNK lysine deficient protein kinase 3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024