Autosomal recessive spinocerebellar ataxia 17
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (9 available)
Clinical features
Help- Abnormality of head or neck
- Thick eyebrow
Thick eyebrow
- MedGen UID: 377914
- Concept ID: C1853487
- Finding: Finding
Abnormality of head or neck
- Thick eyebrow
- Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
- Abnormality of the integument
- Synophrys
Synophrys
- MedGen UID: 98132
- Concept ID: C0431447
- Finding: Congenital Abnormality
Abnormality of the integument
- Synophrys
- Abnormality of the musculoskeletal system
- Appendicular hypotonia
Appendicular hypotonia
- MedGen UID: 868520
- Concept ID: C4022919
- 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
- Mild microcephaly
Mild microcephaly
- MedGen UID: 332294
- Concept ID: C1836806
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Appendicular hypotonia
- Abnormality of the nervous system
- Broad-based gait
Broad-based gait
- MedGen UID: 167799
- Concept ID: C0856863
- Finding: Finding
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar atrophy
Cerebellar atrophy
- MedGen UID: 196624
- Concept ID: C0740279
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar hypoplasia
Cerebellar hypoplasia
- MedGen UID: 120578
- Concept ID: C0266470
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
- MedGen UID: 333548
- Concept ID: C1840379
- Finding: Finding
Abnormality of the nervous system
- Clumsiness
Clumsiness
- MedGen UID: 66690
- Concept ID: C0233844
- Finding: Sign or Symptom
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
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dysmetria
Dysmetria
- MedGen UID: 68583
- Concept ID: C0234162
- Finding: Finding
Abnormality of the nervous system
- Dystonic disorder
Dystonic disorder
- MedGen UID: 3940
- Concept ID: C0013421
- Finding: Sign or Symptom
Abnormality of the nervous system
- Easy fatigability
Easy fatigability
- MedGen UID: 373253
- Concept ID: C1837098
- Finding: Finding
Abnormality of the nervous system
- Gait ataxia
Gait ataxia
- MedGen UID: 155642
- Concept ID: C0751837
- Finding: Sign or Symptom
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- 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
- Intellectual disability, mild
Intellectual disability, mild
- MedGen UID: 10044
- Concept ID: C0026106
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intention tremor
Intention tremor
- MedGen UID: 1642960
- Concept ID: C4551520
- Finding: Sign or Symptom
Abnormality of the nervous system
- Limb ataxia
Limb ataxia
- MedGen UID: 196692
- Concept ID: C0750937
- Finding: Finding
Abnormality of the nervous system
- Oculomotor apraxia
Oculomotor apraxia
- MedGen UID: 483686
- Concept ID: C3489733
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Truncal ataxia
Truncal ataxia
- MedGen UID: 96535
- Concept ID: C0427190
- Finding: Sign or Symptom
Abnormality of the nervous system
- Unsteady gait
Unsteady gait
- MedGen UID: 68544
- Concept ID: C0231686
- Finding: Finding
Abnormality of the nervous system
- Broad-based gait
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