Okur-Chung neurodevelopmental syndrome (OCNDS) is a rare autosomal dominant disorder characterized by intellectual disability, developmental delay, and multisystemic abnormalities. It has been reported that mutations in CSNK2A1 cause this syndrome. CSNK2A1 encodes the alpha subunit of casein kinase 2, a protein kinase involved in several cellular processes.
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
H02854 Okur-Chung neurodevelopmental syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06523 Epigenetic regulation by Polycomb complexes
H02854 Okur-Chung neurodevelopmental syndrome
nt06512 Chromosome cohesion and segregation
H02854 Okur-Chung neurodevelopmental syndrome
Network
nt06512 Chromosome cohesion and segregation nt06523 Epigenetic regulation by Polycomb complexes
