Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in ASXL3 gene. Common emerging features include severe intellectual disability, speech impairment, autistic traits, distinct face, hypotonia, and significant feeding difficulties.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02382 Bainbridge-Ropers syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06523 Epigenetic regulation by Polycomb complexes
H02382 Bainbridge-Ropers syndrome
Network
nt06523 Epigenetic regulation by Polycomb complexes
Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, Berg JN, Chandler K, Metcalfe KA, Lam W, Pilz DT, Tomkins S
Title
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
