Clinical features and prevalence
TBCK-related encephalopathy (also called Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 in OMIM) is a rare progressive neurogenetic disorder.
There are about 30 reported cases worldwide.
There is a founder variant in the Caribbean region (“Boricua mutation”) that is associated with severe disease, also known as TBCK-encephaloneuronopathy due to significant neuromuscular involvement.
Inheritance
It is an autosomal recessive disease.