Clinical features
Mutations in KIAA1109 cause a clinically recognizable autosomal-recessive disorder, Alkuraya-Kucinskas syndrome, which is characterized by brain atrophy with clubfoot and arthrogryposis, cerebral parenchymal underdevelopment, ventriculomegaly, cerebellar hypoplasia with brainstem dysgenesis, cardiac abnormalities, and ophthalmologic anomalies. Severe loss of function mutations are usually incompatible with life. Individuals with milder mutations may survive but may also present with severe global developmental delay, severe hypotonia, and syndactyly of 2nd and 3rd toes.
Prevalence
The prevalence of KIAA1109-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
KIAA1109-related disorder is inherited in an autosomal recessive manner.