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hereditary spastic paraplegia 84
Summary
- Synonym
-
- SPG84
- spastic paraplegia 84 autosomal recessive
- Definition
- A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0112347
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002355 | Difficulty walking |
| HP:0006466 | Ankle flexion contracture |
| HP:0001258 | Spastic paraplegia |
| HP:0011448 | Ankle clonus |
| HP:0003487 | Babinski sign |
| HP:0000012 | Urinary urgency |
| HP:0008969 | Leg muscle stiffness |
| HP:0002495 | Impaired vibratory sensation |
| HP:0100543 | Cognitive impairment |
| HP:0001347 | Hyperreflexia |
