Autosomal recessive spastic paraplegia type 30 (Q99407)
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Autosomal recessive spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1110461645 |
||
| English | Autosomal recessive spastic paraplegia type 30 |
Autosomal recessive spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. |
Statements
CID11:ID_1110461645
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dki-india-ID_1110461645
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Concluído
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15 August 2026
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