Clinical features
Pathogenic homozygous or compound heterozygous variants in ANKLE2 may lead to a multiple congenital anomaly syndrome characterized by severe microcephaly, often associated with neurological symptoms and facial dysmorphism.
Prevalence
The prevalence of ANKLE2-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
ANKLE2-related multiple congenital anomaly syndrome is inherited in an autosomal recessive manner.
ANKLE2