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Charcot-Marie-Tooth disease axonal type 2Z
Summary
- Synonym
-
- CMT2Z
- Charcot-Marie-Tooth neuropathy type 2Z
- autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12.
- Super Class
- Charcot-Marie-Tooth disease type 2 autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110181
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y6X9 | ATPase MORC2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0003431 | Decreased motor nerve conduction velocity |
| HP:0001270 | Motor delay |
| HP:0006886 | Impaired distal vibration sensation |
| HP:0002312 | Clumsiness |
| HP:0008954 | Intrinsic hand muscle atrophy |
| HP:0003677 | Slowly progressive |
| HP:0001251 | Ataxia |
| HP:0011462 | Young adult onset |
| HP:0002066 | Gait ataxia |
