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MIRAGE
hereditary spastic paraplegia 63
Summary
- Synonym
-
- SPG63
- autosomal recessive spastic paraplegia 63
- spastic paraplegia 63
- Definition
- A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0110814
- Mondo Disease Ontology
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q01433 | AMP deaminase 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002194 | Delayed gross motor development |
| HP:0004325 | Decreased body weight |
| HP:0001276 | Hypertonia |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0001257 | Spasticity |
| HP:0004322 | Short stature |
| HP:0001347 | Hyperreflexia |
| HP:0012407 | Scissor gait |
| HP:0002518 | Abnormal periventricular white matter morphology |
| HP:0002169 | Clonus |
