CATIFA syndrome
Definition:
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.
References:
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[1]. Gokhan Unlu, et al. Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies. Nat Med. 2020 Jan;26(1):98-109. [Content Brief]
[2]. Nisha Patel, et al. Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract. Hum Genet. 2017 Feb;136(2):205-225. [Content Brief]
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