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Ataxia and cerebellar anomalies - narrow panel v0.5 | SEPSECS | Ellen McDonagh Added phenotypes Pontocerebellar hypoplasia type 2D (613811) for gene: SEPSECS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v0.5 | SEPSECS |
Ellen McDonagh gene: SEPSECS was added gene: SEPSECS was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEPSECS were set to PMID: 12920088; PMID: 20920667 Phenotypes for gene: SEPSECS were set to Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia type 2D, 613811; Pontocerebellar Hypoplasia type 2D |