Charcot-Marie-tooth disease-deafness-intellectual disability syndrome
ORPHA: 90103
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Charcot-Marie-tooth disease-deafness-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.
Decreased nerve conduction velocityMild intellectual disabilityDecreased number of large peripheral myelinated nerve fibersDecreased amplitude of sensory action potentialsSensorimotor neuropathyLower limb amyotrophySevere sensorineural hearing impairmentDysarthriaGlobal developmental delayAbsent speechFailure to thrive in infancyPes cavusGait ataxiaAreflexia of lower limbsAbnormality of peripheral nerve conductionDistal sensory impairment of all modalitiesAbsent Achilles reflexImpaired vibration sensation at anklesDistal lower limb amyotrophyIntrinsic hand muscle atrophyDistal upper limb muscle weaknessCalf muscle hypoplasiaFoot dorsiflexor weaknessAmyotrophy of ankle musculatureDistal lower limb muscle weaknessUpper limb amyotrophyRespiratory insufficiencyAreflexia of upper limbsPain
Classification & Codes
Orphanet Code
ORPHA:90103Charcot-Marie-tooth disease-deafness-intellectual disability syndrome
| Orphanet | ORPHA:90103 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO