Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased phosphoribosylpyrophosphate synthetase level
Always present (100%)HP:0032460
Progressive visual loss
Always present (100%)HP:0000529
Absent tendon reflexes
Very frequent (80-99%)HP:0001284
Hearing impairment
Very frequent (80-99%)HP:0000365
Hypertrophic muscles
Very frequent (80-99%)HP:0003712
Muscle weakness
Very frequent (80-99%)HP:0001324
Nerve conduction abnormalities
Very frequent (80-99%)HP:0040129
Optic atrophy
Very frequent (80-99%)HP:0000648
Peripheral neuropathy
Very frequent (80-99%)HP:0009830
Pes cavus
Very frequent (80-99%)HP:0001761
Sensory neuropathy
Very frequent (80-99%)HP:0000763
Impaired pain sensation
Frequent (30-79%)HP:0007328
Ataxia
Occasional (5-29%)HP:0001251
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Difficulty articulating speech
Occasional (5-29%)HP:0001260
Excessive daytime somnolence
Occasional (5-29%)HP:0001262
Gait disturbance
Occasional (5-29%)HP:0001288
Hunched back
Occasional (5-29%)HP:0002808
Language impairment
Occasional (5-29%)HP:0002463
Loss of distal sensation
Occasional (5-29%)HP:0002936
Partial paralysis of legs
Occasional (5-29%)HP:0002385
Retinitis pigmentosa
Occasional (5-29%)HP:0000510
Tremor
Occasional (5-29%)HP:0001337
Areflexia in lower limbs
HP:0002522
Distal muscle atrophy, upper and lower limbs
HP:0003693
No development of motor milestones
HP:0001270
Onion bulb formation
HP:0003383
Peripheral nerve disease
HP:0001271
Segmental peripheral demyelination/remyelination
HP:0003481
Sensorineural deafness
HP:0000407
Quick Facts
- SNOMED CT
- 763460007
- UMLS CUI
- C1839566
- Fully Specified Name
- X-linked Charcot-Marie-Tooth disease type 5 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.