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Mitchell syndrome
Summary
- Definition
- A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1.
- Super Class
- autosomal dominant disease peroxisomal disease
External Links
- Disease Ontology
- DOID:0070516
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0001344 | Absent speech |
| HP:0003690 | Limb muscle weakness |
| HP:0001250 | Seizure |
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0012391 | Hyporeflexia of upper limbs |
| HP:0002312 | Clumsiness |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0002355 | Difficulty walking |
| HP:0003390 | Sensory axonal neuropathy |
