Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is associated with epilepsy, intellectual disability, and developmental delay. It has been reported that mutations in CSNK2B cause this syndrome. CSNK2B encodes the beta subunit of casein kinase II (CK2), plays an important role in neuron morphology and synaptic transmission.
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
H02635 Poirier-Bienvenu neurodevelopmental syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06523 Epigenetic regulation by Polycomb complexes
H02635 Poirier-Bienvenu neurodevelopmental syndrome
Network
nt06523 Epigenetic regulation by Polycomb complexes
