Eleanor Williams Phenotypes for gene: KIAA0753 were changed from Orofaciodigital syndrome XV 617127 to ?Orofaciodigital syndrome XV 617127; Short-rib skeletal dysplasia; Joubert syndrome
Eleanor Williams Added comment: Comment on list classification: 5 unrelated cases with homozygous or compound heterozygous variants in this gene and a ciliopathy-related phenotype.