Overview
KLHL9-related early-onset distal myopathy 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.
Ankle flexion contracture
Very frequent (80-99%)HP:0006466
EMG: myopathic changes
Very frequent (80-99%)HP:0003458
Loss of distal sensation
Very frequent (80-99%)HP:0002936
Muscle weakness, progressive, distal
Very frequent (80-99%)HP:0009063
Weakness of the intrinsic hand muscles
Very frequent (80-99%)HP:0009005
Abnormal calf muscles
Frequent (30-79%)HP:0001430
Abnormal levels of creatine kinase in blood
Frequent (30-79%)HP:0040081
Absent patellar reflexes
Frequent (30-79%)HP:0006844
Amyotrophy of ankle musculature
Frequent (30-79%)HP:0009031
Distal sensory loss, especially vibratory sense
Frequent (30-79%)HP:0002166
Gait disturbance
Frequent (30-79%)HP:0001288
Impaired distal tactile sensation
Frequent (30-79%)HP:0006937
Intrinsic hand muscle atrophy
Frequent (30-79%)HP:0008954
Steppage gait
Frequent (30-79%)HP:0003376
Absent Achilles reflex
Occasional (5-29%)HP:0003438
Axonal neuropathy
Very rare (1-4%)HP:0003477
Loss of ambulation
Very rare (1-4%)HP:0002505
Quick Facts
- SNOMED CT
- 763776004
- UMLS CUI
- C4706574
- Fully Specified Name
- Kelch like family member 9 related early-onset distal myopathy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 17
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.