Neurological ciliopathiesGene: CEP104
Mutations identified in three unrelated patients with Joubert. Recognised on G2P
Created: 25 Jan 2017, 12:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome 25 616781
gene: CEP104 was added gene: CEP104 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP104 were set to 26477546 Phenotypes for gene: CEP104 were set to Joubert syndrome 25, 616781; Joubert syndrome 25