Charcot-Marie-Tooth disease, axonal, Type 2HH
- Synonyms
- CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2HH; Charcot-Marie-Tooth disease, axonal, Type 2HH
Summary
Available tests
Clinical tests (4 available)
Clinical features
Help- Abnormality of limbs
- Areflexia of lower limbs
Areflexia of lower limbs
- MedGen UID: 347285
- Concept ID: C1856694
- Finding: Finding
Abnormality of limbs
- Areflexia of upper limbs
Areflexia of upper limbs
- MedGen UID: 388832
- Concept ID: C2674177
- Finding: Finding
Abnormality of limbs
- Clubbing of fingers
Clubbing of fingers
- MedGen UID: 3129
- Concept ID: C0009080
- Finding: Finding
Abnormality of limbs
- Foot dorsiflexor weakness
Foot dorsiflexor weakness
- MedGen UID: 356163
- Concept ID: C1866141
- Finding: Finding
Abnormality of limbs
- Pes cavus
Pes cavus
- MedGen UID: 675590
- Concept ID: C0728829
- Finding: Congenital Abnormality
Abnormality of limbs
- Areflexia of lower limbs
- Abnormality of metabolism/homeostasis
- Edema
Edema
- MedGen UID: 4451
- Concept ID: C0013604
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Edema
- Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Dysphagia
- Abnormality of the musculoskeletal system
- Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers
- MedGen UID: 330782
- Concept ID: C1842170
- Finding: Finding
Abnormality of the musculoskeletal system
- Distal muscle weakness
Distal muscle weakness
- MedGen UID: 140883
- Concept ID: C0427065
- Finding: Finding
Abnormality of the musculoskeletal system
- First dorsal interossei muscle weakness
First dorsal interossei muscle weakness
- MedGen UID: 371289
- Concept ID: C1832277
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Intrinsic hand muscle atrophy
Intrinsic hand muscle atrophy
- MedGen UID: 351202
- Concept ID: C1864716
- Finding: Finding
Abnormality of the musculoskeletal system
- Kyphoscoliosis
Kyphoscoliosis
- MedGen UID: 154361
- Concept ID: C0575158
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Triceps weakness
Triceps weakness
- MedGen UID: 810994
- Concept ID: C2230441
- Finding: Finding
Abnormality of the musculoskeletal system
- Centrally nucleated skeletal muscle fibers
- Abnormality of the nervous system
- Delayed ability to walk
Delayed ability to walk
- MedGen UID: 66034
- Concept ID: C0241726
- Finding: Finding
Abnormality of the nervous system
- Fasciculations
Fasciculations
- MedGen UID: 5124
- Concept ID: C0015644
- Finding: Sign or Symptom
Abnormality of the nervous system
- Impaired distal vibration sensation
Impaired distal vibration sensation
- MedGen UID: 381262
- Concept ID: C1853767
- Finding: Finding
Abnormality of the nervous system
- Impaired pain sensation
Impaired pain sensation
- MedGen UID: 373348
- Concept ID: C1837522
- Finding: Finding
Abnormality of the nervous system
- Impaired tandem gait
Impaired tandem gait
- MedGen UID: 476998
- Concept ID: C3275367
- Finding: Finding
Abnormality of the nervous system
- Impaired temperature sensation
Impaired temperature sensation
- MedGen UID: 866867
- Concept ID: C4021222
- Finding: Finding
Abnormality of the nervous system
- Migraine
Migraine
- MedGen UID: 57451
- Concept ID: C0149931
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Polyminimyoclonus
Polyminimyoclonus
- MedGen UID: 1671047
- Concept ID: C4732793
- Finding: Finding
Abnormality of the nervous system
- Tremor
Tremor
- MedGen UID: 21635
- Concept ID: C0040822
- Finding: Sign or Symptom
Abnormality of the nervous system
- Delayed ability to walk
- Abnormality of the respiratory system
- Stridor
Stridor
- MedGen UID: 11613
- Concept ID: C0038450
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Stridor
- Abnormality of the voice
- Vocal cord paresis
Vocal cord paresis
- MedGen UID: 155888
- Concept ID: C0751576
- Finding: Disease or Syndrome
Abnormality of the voice
- Vocal cord paresis
- Constitutional symptom
- Night sweats
Night sweats
- MedGen UID: 10351
- Concept ID: C0028081
- Finding: Sign or Symptom
Constitutional symptom
- Night sweats
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