1. Biology Dictionary
  2. CATIFA syndrome

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.

Biomedical Dictionary

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