Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Constriction of peripheral visual field
Always present (100%)HP:0001133
Disease of the heart muscle
Occasional (5-29%)HP:0001638
Eye drop
Occasional (5-29%)HP:0000508
Difficulty articulating speech
HP:0001260
External ophthalmoplegia
HP:0000544
Hyperglycemia
HP:0003074
Interictal vestibular dysfunction
HP:0001751
NIDDM
HP:0005978
Pigmentary retinopathy
HP:0000580
Retinal degeneration
HP:0000546
Seizures
HP:0001250
Sensorineural deafness
HP:0000407
Unsteady walk
HP:0002317
Vertigo
HP:0002321
Quick Facts
- SNOMED CT
- 237619009
- UMLS CUI
- C0342289
- Fully Specified Name
- Maternally inherited diabetes and deafness (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.