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MIRAGE
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:0001276 | Hypertonia |
| HP:0001288 | Gait disturbance |
| HP:0001290 | Generalized hypotonia |
| HP:0001315 | Reduced tendon reflexes |
| HP:0001328 | Specific learning disability |
| HP:0001337 | Tremor |
| HP:0001620 | High pitched voice |
| HP:0001761 | Pes cavus |
| HP:0001999 | Abnormal facial shape |
| HP:0002167 | Abnormality of speech or vocalization |
