Clark-Baraitser syndrome (CLABARS) is a rare autosomal dominant intellectual disability syndrome characterized by intellectual disability, which may be accompanied by autism spectrum disorder (ASD), speech delay, and/or obesity. Moreover, this syndrome can also involve dysmorphic features. It has been reported that mutations in TRIP12 cause CLABARS. TRIP12 encodes an E3 ligase in the ubiquitin pathway.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H02984 Clark-Baraitser syndrome
Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denomme-Pichon AS, Charif M, Besnard T, Bezieau S, Cogne B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P
Title
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
