Overview
Charcot-Marie-Tooth disease type 4K is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Areflexia
HP:0001284
Ataxia
HP:0001251
Axonal loss
HP:0003447
Deafness
HP:0000365
Dystonic disease
HP:0001332
Gait disturbance
HP:0001288
Higher than normal levels of lactate in blood
HP:0002151
Horizontal nystagmus
HP:0000666
Kyphoscoliosis
HP:0002751
Muscle wasting
HP:0003202
Neuropathy
HP:0009830
Peripheral demyelination
HP:0011096
Sensorineural deafness
HP:0000407
Tired easily
HP:0003388
Related Conditions
Quick Facts
- SNOMED CT
- 765047006
- UMLS CUI
- C4225246
- Fully Specified Name
- SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 14
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.