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Ataxia and cerebellar anomalies - narrow panel v2.234 | GMPPB | Sarah Leigh Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v0.5 | GMPPB |
Ellen McDonagh gene: GMPPB was added gene: GMPPB was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GMPPB were set to 23768512 Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type |