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| Ataxia and cerebellar anomalies - narrow panel v0.5 | SMPD4 |
Ellen McDonagh gene: SMPD4 was added gene: SMPD4 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMPD4 were set to cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis, diabetes |
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