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Article

Speech and Language Development of Two Brothers With Bainbridge-Ropers Syndrome: Phenotypic and Bioinformatic Support for a Cerebellar ASXL3 Hypothesis.

American journal of medical genetics. Part A - 1 Jan 2026

Peter Beate, Aggarwal Pooja, Kim Yookyung, Bruce Laurel, Klein-Seetharaman Judith

Abstract excerpt

Bainbridge-Ropers syndrome (BRPS) is a rare neurodevelopmental disorder caused by variants in the ASXL3 gene. Nearly all cases are de novo, representing widely varying ASXL3 genotypes. Commonly observed traits include feeding difficulties, global motor delays, hypotonia, intellectual disability, autism, seizures, and craniofacial and skeletal changes. Difficulty with verbal communication is present in all cases,...

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Identifiers

PMID: 40891523
DOI: 10.1002/ajmg.a.64240

Genes

ASXL3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

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Speech and Language Development of Two Brothers With Bainbridge-Ropers Syndrome: Phenotypic and Bioinformatic Support for a Cerebellar ASXL3 Hypothesis.PMID 40891523Read ↗

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