Clinical features
Pathogenic homozygous variants in RIC1 have been documented to cause cleft lip, cataracts, tooth abnormalities, impaired intellectual development, facial dysmorphism, and attention-deficit hyperactivity disorder, a constillation of symptoms termed CATIFA syndrome. Other variable features including asthma, sleep disturbances, microcephaly, strabismus, hypotonic gait, and mild brain atrophy have been observed in some reported cases.
Prevalence
The prevalence of RIC1-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
RIC1-related multiple congenital anomaly syndrome is inherited in an autosomal recessive manner.
RIC1