CATIFA syndrome is a novel autosomal recessive syndrome characterized by cleft lip, cataract, tooth abnormality, intellectual disability, facial dysmorphism, and ADHD. It has been reported that mutations in RIC1 cause CATIFA syndrome. RIC1 is an essential component of the procollagen secretory pathway.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02478 CATIFA syndrome
Patel N, Anand D, Monies D, Maddirevula S, Khan AO, Algoufi T, Alowain M, Faqeih E, Alshammari M, Qudair A, Alsharif H, Aljubran F, Alsaif HS, Ibrahim N, Abdulwahab FM, Hashem M, Alsedairy H, Aldahmesh MA, Lachke SA, Alkuraya FS
Title
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
