Neuronopathy, distal hereditary motor, autosomal dominant 11
- Synonyms
- NEUROPATHY, DISTAL HEREDITARY MOTOR, 11
Summary
Available tests
Clinical tests (1 available)
Clinical features
Help- Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- Narrow palate
Narrow palate
- MedGen UID: 278045
- Concept ID: C1398312
- Finding: Finding
Abnormality of head or neck
- High palate
- 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
- 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
- Hallux valgus
Hallux valgus
- MedGen UID: 5416
- Concept ID: C0018536
- Finding: Anatomical Abnormality
Abnormality of limbs
- Hammertoe
Hammertoe
- MedGen UID: 209712
- Concept ID: C1136179
- Finding: Anatomical Abnormality
Abnormality of limbs
- Hyporeflexia of lower limbs
Hyporeflexia of lower limbs
- MedGen UID: 371881
- Concept ID: C1834696
- Finding: Finding
Abnormality of limbs
- Hyporeflexia of upper limbs
Hyporeflexia of upper limbs
- MedGen UID: 323007
- Concept ID: C1836835
- Finding: Finding
Abnormality of limbs
- Long fingers
Long fingers
- MedGen UID: 346836
- Concept ID: C1858091
- Finding: Finding
Abnormality of limbs
- Pes cavus
Pes cavus
- MedGen UID: 675590
- Concept ID: C0728829
- Finding: Congenital Abnormality
Abnormality of limbs
- Pes planus
Pes planus
- MedGen UID: 42034
- Concept ID: C0016202
- Finding: Anatomical Abnormality
Abnormality of limbs
- Upper limb muscle weakness
Upper limb muscle weakness
- MedGen UID: 305607
- Concept ID: C1698196
- Finding: Finding
Abnormality of limbs
- Areflexia of lower limbs
- Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration
- MedGen UID: 69128
- Concept ID: C0241005
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
- Abnormality of the musculoskeletal system
- Achilles tendon contracture
Achilles tendon contracture
- MedGen UID: 98052
- Concept ID: C0410264
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Claw hand deformity
Claw hand deformity
- MedGen UID: 1814631
- Concept ID: C5702555
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Difficulty climbing stairs
Difficulty climbing stairs
- MedGen UID: 68676
- Concept ID: C0239067
- Finding: Finding
Abnormality of the musculoskeletal system
- Distal lower limb amyotrophy
Distal lower limb amyotrophy
- MedGen UID: 324515
- Concept ID: C1836451
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Distal muscle weakness
Distal muscle weakness
- MedGen UID: 140883
- Concept ID: C0427065
- Finding: Finding
Abnormality of the musculoskeletal system
- Frequent falls
Frequent falls
- MedGen UID: 163408
- Concept ID: C0850703
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Pectus carinatum
Pectus carinatum
- MedGen UID: 57643
- Concept ID: C0158731
- Finding: Finding
Abnormality of the musculoskeletal system
- Upper limb amyotrophy
Upper limb amyotrophy
- MedGen UID: 867165
- Concept ID: C4021523
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Achilles tendon contracture
- Abnormality of the nervous system
- Babinski sign
Babinski sign
- MedGen UID: 19708
- Concept ID: C0034935
- Finding: Finding
Abnormality of the nervous system
- Broad-based gait
Broad-based gait
- MedGen UID: 167799
- Concept ID: C0856863
- Finding: Finding
Abnormality of the nervous system
- Clumsiness
Clumsiness
- MedGen UID: 66690
- Concept ID: C0233844
- Finding: Sign or Symptom
Abnormality of the nervous system
- Decreased compound muscle action potential amplitude
Decreased compound muscle action potential amplitude
- MedGen UID: 908357
- Concept ID: C4230625
- Finding: Finding
Abnormality of the nervous system
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- Finding: Finding
Abnormality of the nervous system
- Dyslexia
Dyslexia
- MedGen UID: 96906
- Concept ID: C0476254
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Gait disturbance
Gait disturbance
- MedGen UID: 107895
- Concept ID: C0575081
- Finding: Finding
Abnormality of the nervous system
- Hyperactive patellar reflex
Hyperactive patellar reflex
- MedGen UID: 66003
- Concept ID: C0240116
- Finding: Finding
Abnormality of the nervous system
- Hypoesthesia
Hypoesthesia
- MedGen UID: 6974
- Concept ID: C0020580
- Finding: Finding
Abnormality of the nervous system
- Impaired vibratory sensation
Impaired vibratory sensation
- MedGen UID: 220959
- Concept ID: C1295585
- Finding: Finding
Abnormality of the nervous system
- Loss of ambulation
Loss of ambulation
- MedGen UID: 332305
- Concept ID: C1836843
- Finding: Finding
Abnormality of the nervous system
- Motor axonal neuropathy
Motor axonal neuropathy
- MedGen UID: 413108
- Concept ID: C2749625
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Peripheral axonal neuropathy
Peripheral axonal neuropathy
- MedGen UID: 266071
- Concept ID: C1263857
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Peripheral neuropathy
Peripheral neuropathy
- MedGen UID: 18386
- Concept ID: C0031117
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Restless legs
Restless legs
- MedGen UID: 48427
- Concept ID: C0035258
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Steppage gait
Steppage gait
- MedGen UID: 98105
- Concept ID: C0427149
- Finding: Finding
Abnormality of the nervous system
- Unsteady gait
Unsteady gait
- MedGen UID: 68544
- Concept ID: C0231686
- Finding: Finding
Abnormality of the nervous system
- Babinski sign
- Constitutional symptom
- Asthenia
Asthenia
- MedGen UID: 2107
- Concept ID: C0004093
- Finding: Sign or Symptom
Constitutional symptom
- Asthenia
- Growth abnormality
- Tall stature
Tall stature
- MedGen UID: 69137
- Concept ID: C0241240
- Finding: Finding
Growth abnormality
- Tall stature
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