Variants
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Amyotrophic lateral sclerosis type 16

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Description

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene.

MONDO

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

50

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Genes

External Links

  • OMIM

    614373

  • Orphanet
  • HPO
  • Medgen

    C3280587

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