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Gastrointestinal neuromuscular disorders v1.15 | RAD21 |
Zornitza Stark gene: RAD21 was added gene: RAD21 was added to Gastrointestinal neuromuscular disorders. Sources: Expert Review Mode of inheritance for gene: RAD21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAD21 were set to 14638363; 32193685; 25575569 Phenotypes for gene: RAD21 were set to Mungan syndrome, MIM# 611376 Review for gene: RAD21 was set to GREEN Added comment: Mono-allelic variants are associated with CdL but bi-allelic variants are associated with Mungan syndrome, which includes pseudo-obstruction. Sources: Expert Review |