Overview
Cowchock syndrome 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.
Abnormal liver enzymes
Always present (100%)HP:0002910
Elevated serum creatine phosphokinase
Always present (100%)HP:0003236
Increased lactate dehydrogenase level
Always present (100%)HP:0025435
Areflexia
Very frequent (80-99%)HP:0001284
Cavus foot
Very frequent (80-99%)HP:0001761
Decreased nerve conduction velocity
Very frequent (80-99%)HP:0000762
Distal limb muscle weakness due to peripheral neuropathy
Very frequent (80-99%)HP:0002460
Muscle atrophy, neurogenic
Very frequent (80-99%)HP:0003202
Nerve damage causing decreased feeling and movement
Very frequent (80-99%)HP:0007141
Sensory neuropathy
Very frequent (80-99%)HP:0000763
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Hunched back
Frequent (30-79%)HP:0002808
Hypoacusis
Frequent (30-79%)HP:0000365
Impaired pain sensation
Frequent (30-79%)HP:0007328
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Sensorineural deafness
Frequent (30-79%)HP:0000407
Ataxia
Occasional (5-29%)HP:0001251
Gait disturbance
Occasional (5-29%)HP:0001288
Intellectual impairment
Occasional (5-29%)HP:0100543
Tremor
Occasional (5-29%)HP:0001337
Trouble sleeping
Occasional (5-29%)HP:0002360
Distal muscle weakness in lower limbs
HP:0009053
Loss of distal sensation
HP:0002936
Lower limb atrophy
HP:0008944
Motor axonal neuropathy
HP:0007002
Muscle weakness
HP:0001324
Peripheral sensory axonal neuropathy
HP:0003390
Quick Facts
- SNOMED CT
- 763400005
- UMLS CUI
- C0795910
- Fully Specified Name
- X-linked Charcot-Marie-Tooth disease type 4 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 27
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.