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hereditary sensory and autonomic neuropathy type 1C
Summary
- Synonym
-
- HSAN1C
- hereditary sensory and autonomic neuropathy type IC
- Definition
- A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.
- Super Class
- autosomal dominant disease hereditary sensory and autonomic neuropathy type 1
External Links
- Disease Ontology
- DOID:0070157
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003621 | Juvenile onset |
| HP:0003431 | Decreased motor nerve conduction velocity |
| HP:0009053 | Distal lower limb muscle weakness |
| HP:0002600 | Hyporeflexia of lower limbs |
| HP:0007328 | Impaired pain sensation |
