Spastic ataxia 9, autosomal recessive
Available tests
Clinical tests (1 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of limbs
- Abnormality of the eye
- Limited extraocular movements
Limited extraocular movements
- MedGen UID: 388060
- Concept ID: C1858427
- Finding: Finding
Abnormality of the eye
- Reduced visual acuity
Reduced visual acuity
- MedGen UID: 65889
- Concept ID: C0234632
- Finding: Finding
Abnormality of the eye
- Slow saccadic eye movements
Slow saccadic eye movements
- MedGen UID: 232942
- Concept ID: C1321329
- Finding: Finding
Abnormality of the eye
- Limited extraocular movements
- Abnormality of the genitourinary system
- Premature ovarian insufficiency
Premature ovarian insufficiency
- MedGen UID: 9963
- Concept ID: C0025322
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Premature ovarian insufficiency
- Abnormality of the musculoskeletal system
- Axial hypotonia
Axial hypotonia
- MedGen UID: 342959
- Concept ID: C1853743
- Finding: Finding
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- Finding: Finding
Abnormality of the musculoskeletal system
- Distal amyotrophy
Distal amyotrophy
- MedGen UID: 338530
- Concept ID: C1848736
- 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
- Axial hypotonia
- Abnormality of the nervous system
- Abnormal pyramidal sign
Abnormal pyramidal sign
- MedGen UID: 68582
- Concept ID: C0234132
- Finding: Sign or Symptom
Abnormality of the nervous system
- Babinski sign
Babinski sign
- MedGen UID: 19708
- Concept ID: C0034935
- 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 vermis atrophy
Cerebellar vermis atrophy
- MedGen UID: 149271
- Concept ID: C0742028
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Dysmetria
Dysmetria
- MedGen UID: 68583
- Concept ID: C0234162
- Finding: Finding
Abnormality of the nervous system
- Hoffmann sign
Hoffmann sign
- MedGen UID: 78828
- Concept ID: C0277839
- Finding: Sign or Symptom
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- 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
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- Abnormal pyramidal sign
- Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Growth delay
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