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X-Linked Intellectual Developmental Disorder-93 Caused by BRWD3 Mutation in Females: A Case Report and Literature Review.

Molecular genetics & genomic medicine - 1 Jun 2026

Xiu Yang, Zhang Yige, Jiao Yake, Wang Wei, Hu Yanyan

Abstract excerpt

OBJECTIVE: To report the clinical manifestations and genetic diagnosis of a female patient with X-linked intellectual developmental disorder-93 (XLID93, OMIM#300659) caused by a BRWD3 gene mutation. Systematically summarize the clinical and genetic characteristics of reported female cases and analyze the genotype-phenotype correlation. METHODS: A case of XLID93 in a 1-year-and-3-month-old girl was reported....

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PMID: 42298746
DOI: 10.1002/mgg3.70251
PMCID: PMC13269170

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