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GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia 43

Hereditary spastic paraplegia 43

Synonyms
Spastic paraplegia 43, autosomal recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Spastic paraplegia-43 (SPG43) is an autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive spasticity affecting the lower and upper limbs (summary by Meilleur et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800. [from OMIM]

Available tests

32 tests are in the database for this condition.

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Clinical tests (32 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MPAN, NBIA3, NBIA4, SPG43, C19orf12
    Summary: chromosome 19 open reading frame 12

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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