Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Areflexia
Frequent (30-79%)HP:0001284
Decreased motor nerve conduction velocity
Frequent (30-79%)HP:0003431
Delayed ability to walk
Frequent (30-79%)HP:0031936
Distal muscle atrophy, upper and lower limbs
Frequent (30-79%)HP:0003693
Equinovarus deformity
Frequent (30-79%)HP:0008110
Foot deformity
Frequent (30-79%)HP:0001760
Gait disturbance
Frequent (30-79%)HP:0001288
Hand muscle weakness
Frequent (30-79%)HP:0030237
Inability to heel walk
Frequent (30-79%)HP:0009027
Intrinsic hand muscle atrophy
Frequent (30-79%)HP:0008954
Lower limb muscle hypotrophy
Frequent (30-79%)HP:0008944
Muscle weakness, progressive, distal
Frequent (30-79%)HP:0009063
Nerve damage causing decreased feeling and movement
Frequent (30-79%)HP:0007141
No development of motor milestones
Frequent (30-79%)HP:0001270
Pes cavus
Frequent (30-79%)HP:0001761
Sensory impairment
Frequent (30-79%)HP:0003474
Abnormal formation of the hip
Occasional (5-29%)HP:0001385
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Demyelinating peripheral neuropathy
Occasional (5-29%)HP:0007108
Distal upper limb amyotrophy
Occasional (5-29%)HP:0007149
Hyporeflexia
Occasional (5-29%)HP:0001265
Inability to walk
Occasional (5-29%)HP:0002540
Peripheral axonal neuropathy
Occasional (5-29%)HP:0003477
Pes valgus
Occasional (5-29%)HP:0008081
Proximal muscle weakness in lower limbs
Occasional (5-29%)HP:0008994
Restrictive respiratory disease
Occasional (5-29%)HP:0002091
Tremor
Occasional (5-29%)HP:0001337
Decreased nerve conduction velocity
HP:0000762
Distal limb muscle weakness due to peripheral neuropathy
HP:0002460
EMG: axonal abnormality
HP:0003482
Quick Facts
- SNOMED CT
- 763458005
- UMLS CUI
- C1844865
- Fully Specified Name
- X-linked Charcot-Marie-Tooth disease type 3 (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.