Imagawa-Matsumoto syndrome is a very rare overgrowth syndrome that resembles Weaver syndrome [DS:H01751]. Mutations in SUZ12 cause this disease. SUZ12 is a core component of polycomb repressive complex 2 (PRC2) along with EZH2 and EED.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2C Overgrowth syndromes
H02522 Imagawa-Matsumoto syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06523 Epigenetic regulation by Polycomb complexes
H02522 Imagawa-Matsumoto syndrome
Network
nt06523 Epigenetic regulation by Polycomb complexes
