MeSH Browser

MeSH Supplementary: Bainbridge-Ropers syndrome
Unique ID: C000726367
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C000726367
Entry Term(s): ASXL3 deficiency syndrome; ASXL3-related disorder
Registry Number: 0
Heading Mapped to: *Abnormalities, Multiple; *Facies; *Neurodevelopmental Disorders
Note: 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
Date of Entry: 2022/12/21
Revision Date: 2022/12/22

Bainbridge-Ropers syndrome MeSH Supplementary Concept Data 2024