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Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

MONDO:0014744

An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.

Also known as: SCAR21, acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, autosomal recessive spinocerebellar ataxia type 21, spinocerebellar ataxia, autosomal recessive 21, spinocerebellar ataxia, autosomal recessive type 21, autosomal recessive spinocerebellar ataxia 21, spinocerebellar ataxia, autosomal recessive 21, with hepatopathy

31 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Neurodegenerative disease (155) Brain disorder (110) Central nervous system disorder (97) Movement disorder (89) Cerebellar ataxia (32) Syndromic disease (24) Acute disease (18)
Trials to join now! 16 Not yet recruiting 3 Not yet finished but already full! 5 Completed 7
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