Neuropathy, hereditary sensory, type 2C
- Synonyms
- Hereditary sensory and autonomic neuropathy type IIC
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Ingo Kurth
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (39 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
- Autoamputation of digits
Autoamputation of digits
- MedGen UID: 343770
- Concept ID: C1852289
- Finding: Finding
Abnormality of limbs
- Distal lower limb muscle weakness
Distal lower limb muscle weakness
- MedGen UID: 324514
- Concept ID: C1836450
- Finding: Finding
Abnormality of limbs
- Foot dorsiflexor weakness
Foot dorsiflexor weakness
- MedGen UID: 356163
- Concept ID: C1866141
- Finding: Finding
Abnormality of limbs
- Areflexia of lower limbs
- Abnormality of the integument
- Acral ulceration
Acral ulceration
- MedGen UID: 1648438
- Concept ID: C4732740
- Finding: Finding
Abnormality of the integument
- Acral ulceration
- 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
- Intrinsic hand muscle atrophy
- Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hypoesthesia
Hypoesthesia
- MedGen UID: 6974
- Concept ID: C0020580
- Finding: Finding
Abnormality of the nervous system
- Hyporeflexia
Hyporeflexia
- MedGen UID: 195967
- Concept ID: C0700078
- Finding: Finding
Abnormality of the nervous system
- Impaired distal proprioception
Impaired distal proprioception
- MedGen UID: 867227
- Concept ID: C4021585
- Finding: Finding
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
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Peripheral neuropathy
Peripheral neuropathy
- MedGen UID: 18386
- Concept ID: C0031117
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Global developmental delay
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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