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hereditary spastic paraplegia 26
Summary
- Synonym
-
- GM2 synthase deficiency
- SPG26
- autosomal recessive spastic paraplegia 26
- autosomal recessive spastic paraplegia type 26
- Definition
- A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0110777
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 379299 | b4galnt1.L | beta-1,4-N-acetyl-galactosaminyl transferase 1 L homeolog | Xenopus laevis (African clawed frog) | |
| 100145208 | b4galnt1 | beta-1,4-N-acetyl-galactosaminyl transferase 1 | Xenopus tropicalis (tropical clawed frog) | |
| 108709867 | b4galnt1.S | beta-1,4-N-acetyl-galactosaminyl transferase 1 S homeolog | Xenopus laevis (African clawed frog) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000012 | Urinary urgency |
| HP:0000639 | Nystagmus |
| HP:0000712 | Emotional lability |
| HP:0001251 | Ataxia |
| HP:0001256 | Intellectual disability, mild |
| HP:0001258 | Spastic paraplegia |
| HP:0001260 | Dysarthria |
| HP:0001310 | Dysmetria |
| HP:0002064 | Spastic gait |
