Clinical features
Autosomal recessive mutations in the KCNA4 gene cause a syndrome, which is characterized by microcephaly, congenital cataract, abnormal striatum, intellectual disability and attention deficit hyperactivity disorder.
Prevalence
Currently there is only a single family reported in the literature. Prevalence and recurrence of the disease unknown.
Inheritance
KCNA4-related disorders are inherited in an autosomal recessive manner.