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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:0000020 | Urinary incontinence |
| HP:0000252 | Microcephaly |
| HP:0000365 | Hearing impairment |
| HP:0000467 | Neck muscle weakness |
| HP:0000518 | Cataract |
| HP:0001047 | Atopic dermatitis |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001263 | Global developmental delay |
| HP:0001272 | Cerebellar atrophy |
