Cohen-Gibson syndrome (COGIS) is an overgrowth syndrome caused by mutations in EED. Patients are with overgrowth, facial dysmorphism and intellectual disability. EED is a member of the polycomb repressive complex 2 (PRC2) that maintains gene silencing.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2C Overgrowth syndromes
H02477 Cohen-Gibson syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06523 Epigenetic regulation by Polycomb complexes
H02477 Cohen-Gibson syndrome
Network
nt06523 Epigenetic regulation by Polycomb complexes
