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GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia 63

Hereditary spastic paraplegia 63

Synonyms
Spastic paraplegia 63, autosomal recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

An extremely rare and complex form of hereditary spastic paraplegia with characteristics of onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2. [from SNOMEDCT_US]

Available tests

10 tests are in the database for this condition.

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Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AMPD, PCH9, SPG63, AMPD2
    Summary: adenosine monophosphate deaminase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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