Autosomal recessive spinocerebellar ataxia 20

MONDO:0014601

Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene.

Also known as: SCAR20, SNX14 autosomal recessive cerebellar ataxia, autosomal recessive cerebellar ataxia caused by mutation in SNX14, autosomal recessive spinocerebellar ataxia type 20, intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome, spinocerebellar ataxia, autosomal recessive type 20, intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome, spinocerebellar ataxia, autosomal recessive 20

18 clinical trials for this condition and its sub-types, 0 tagged with Autosomal recessive spinocerebellar ataxia 20 itself.

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↑ Congenital nervous system disorder (287) ↑ Autosomal recessive cerebellar ataxia (72) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Central nervous system malformation (51)

Including sub-types (18) Tagged with Autosomal recessive spinocerebellar ataxia 20 (0)

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