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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:0003621 | Juvenile onset |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0007340 | Lower limb muscle weakness |
| HP:0002359 | Frequent falls |
| HP:0100280 | Crohn's disease |
| HP:0001276 | Hypertonia |
| HP:0003593 | Infantile onset |
| HP:0100702 | Arachnoid cyst |
| HP:0001761 | Pes cavus |
| HP:0006380 | Knee flexion contracture |
