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Article

Female-restricted syndromic intellectual disability in a patient from Thailand.

American journal of medical genetics. Part A - 1 May 2019

Sinthuwiwat Thivaratana, Ittiwut Chupong, Porntaveetus Thantrira, Shotelersuk Vorasuk

Abstract excerpt

Female-restricted syndromic intellectual disability (ID) is a neurodevelopmental disorder with developmental delay (DD)/ID, facial dysmorphism, and diverse congenital anomalies comprising heart defects, anal anomalies, choanal atresia, postaxial polydactyly, scoliosis, and brain abnormalities. Loss-of-function mutations in the USP9X gene inherited as X-linked dominance were identified as its etiology in females...

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Source

Identifiers

PMID: 30828969
DOI: 10.1002/ajmg.a.61106

Genes

USP9X

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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