Charcot-Marie-Tooth disease X-linked recessive 3
Findings
No curated finding names Charcot-Marie-Tooth disease X-linked recessive 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.
Definition from the Mondo Disease Ontology (MONDO:0010551), read 2026-09-29. CC BY 4.0.
Features
27 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal foot morphologyHPOHP:0001760
- Frequent (30% to 79% of cases)
- AreflexiaHPOHP:0001284
- Frequent (30% to 79% of cases)
- Decreased motor nerve conduction velocityHPOHP:0003431
- Frequent (30% to 79% of cases)
- Delayed ability to walkHPOHP:0031936
- Frequent (30% to 79% of cases)
- Distal amyotrophyHPOHP:0003693
- Frequent (30% to 79% of cases)
- Distal lower limb amyotrophyHPOHP:0008944
- Frequent (30% to 79% of cases)
- Equinovarus deformity
Show the remaining 15
- Pes cavusHPOHP:0001761
- Frequent (30% to 79% of cases)
- Progressive distal muscle weaknessHPOHP:0009063
- Frequent (30% to 79% of cases)
- Sensorimotor neuropathyHPOHP:0007141
- Frequent (30% to 79% of cases)
- Somatic sensory dysfunctionHPOHP:0003474
- Frequent (30% to 79% of cases)
- Demyelinating peripheral neuropathyHPOHP:0007108
- Occasional (5% to 29% of cases)
- Distal upper limb amyotrophyHPOHP:0007149
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
9 names
Resolves to: Charcot-Marie-Tooth disease X-linked recessive 3
- Also called
- Charcot Marie Tooth disease X-linked recessive 3Charcot-Marie-Tooth disease X-linked recessive type 3Charcot-Marie-Tooth disease, X-linked recessive, 3Charcot-Marie-Tooth neuropathy, X-linked recessive, 3Charcot-Marie-Tooth neuropathy, X-linked recessive, 3, X-linked recessiveCMT3XCMTX 3CMTX3X-linked Charcot-Marie-Tooth disease type 3