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Ataxia and cerebellar anomalies - narrow panel v0.5 | POMT2 |
Ellen McDonagh gene: POMT2 was added gene: POMT2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT2 were set to 15894594 Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type |