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| Ataxia and cerebellar anomalies - narrow panel v0.5 | PCLO | Ellen McDonagh Added phenotypes Pontocerebellar Hypoplasia type 3 for gene: PCLO | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.5 | PCLO |
Ellen McDonagh gene: PCLO was added gene: PCLO was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCLO were set to PMID: 25832664 Phenotypes for gene: PCLO were set to Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree. |
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