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Ataxia and cerebellar anomalies - narrow panel v0.5 | TSEN34 | Ellen McDonagh Added phenotypes Pontocerebellar hypoplasia 2C (612390) for gene: TSEN34 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v0.5 | TSEN34 |
Ellen McDonagh gene: TSEN34 was added gene: TSEN34 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSEN34 were set to PMID: 18711368 Phenotypes for gene: TSEN34 were set to Pontocerebellar hypoplasia type 2C,612390; Pontocerebellar Hypoplasia type 2C; Pontocerebellar Hypoplasia |