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GTR Home > Conditions/Phenotypes > Prieto syndrome

Prieto syndrome

Synonyms
Mental retardation, X-linked with dysmorphism and cerebral atrophy; Mental retardation, X-linked, syndromic 2; Prieto X-linked mental retardation syndrome; X-linked dysmorphic syndrome with mental retardation
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Prieto syndrome (PRS) is an X-linked intellectual developmental disorder characterized by mildly to severely impaired intellectual development, developmental delay, autism spectrum disorder, or neuropsychiatric symptoms, variably accompanied by speech delay, epilepsy, microcephaly, structural brain defects, and minor facial anomalies (summary by Kury et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: MRXS2, PRKWNK3, PRS, WNK3
    Summary: WNK lysine deficient protein kinase 3

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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