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GTR Home > Conditions/Phenotypes > X-linked parkinsonism-spasticity syndrome

X-linked parkinsonism-spasticity syndrome

Synonyms
Parkinsonism with spasticity, X-linked
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

A rare genetic neurological disorder with characteristics of parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. There is evidence this disease is caused by hemizygous mutation in the ATP6AP2 gene on chromosome Xp11. [from SNOMEDCT_US]

Available tests

24 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: (P)RR, APT6M8-9, ATP6IP2, ATP6M8-9, CDG2R, ELDF10, HT028, M8-9, MRXE, MRXSH, MSTP009, PRR, RENR, XMRE, XPDS, ATP6AP2
    Summary: ATPase H+ transporting accessory protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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