Bainbridge-Ropers syndrome

Developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features. Mutations in the ASXL3 gene cause this disorder (see ASXL3 PROTEIN, HUMAN). OMIM: 615485

Also Known As:

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Experts

1.	Artamonov, Artyom: 1 article (01/2020)
2.	Bielas, Stephanie L: 1 article (01/2020)
3.	Frank, Dale: 1 article (01/2020)
4.	Lichtig, Hava: 1 article (01/2020)
5.	Polevoy, Hanna: 1 article (01/2020)
6.	Reid, Christine D: 1 article (01/2020)
7.	Ge, Juan: 1 article (01/2019)
8.	Li, Tang: 1 article (01/2019)
9.	Liu, Yusheng: 1 article (01/2019)
10.	Qiao, Lingyan: 1 article (01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Bainbridge-Ropers syndrome:

1.	Nonsense Codon (Nonsense Mutation)IBA 01/01/2019 - "Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome." 01/01/2018 - "A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome."
2.	Proteins (Proteins, Gene)FDA Link 01/01/2020 - "We have found that ASXL3 protein knockdown during early embryo development highly perturbs neural cell fate specification, potentially resembling the Bainbridge-Ropers syndrome phenotype in humans. " 01/01/2018 - "Bainbridge-Ropers syndrome is a genetic syndrome caused by heterozygous loss-of-function pathogenic variants in ASXL3, which encodes a protein involved in transcriptional regulation. "