Clinical features
Mutations in ABCA2 cause a multiple
congenital anomaly syndrome characterized by infantile-onset global
developmental delay, hypotonia, and poor growth. Seizures are observed in most
patients, while ataxia, microcephaly, and facial dysmorphism are less common
and more variable.
Prevalence
The
prevalence of ABCA2-related
conditions cannot be ascertained with precision due to the limited number of
cases identified to date.
Inheritance
ABCA2-related
multiple congenital anomaly syndrome is inherited in an autosomal recessive
manner.