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| Ataxia and cerebellar anomalies - narrow panel v0.5 | NAGLU |
Ellen McDonagh gene: NAGLU was added gene: NAGLU was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: NAGLU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NAGLU were set to PMID: 25818867 Phenotypes for gene: NAGLU were set to Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920) Mode of pathogenicity for gene: NAGLU was set to Other - please provide details in the comments |
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