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hereditary spastic paraplegia 82
Summary
- Synonym
-
- SPG82
- spastic paraplegia 82 autosomal recessive
- Definition
- A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0112343
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002059 | Cerebral atrophy |
| HP:0000750 | Delayed speech and language development |
| HP:0007663 | Reduced visual acuity |
| HP:0000639 | Nystagmus |
| HP:0003487 | Babinski sign |
| HP:0001257 | Spasticity |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002376 | Developmental regression |
| HP:0001249 | Intellectual disability |
| HP:0007359 | Focal-onset seizure |
