Episodic ataxia type 6
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (38 available)
Clinical features
Help- Abnormality of the digestive system
- Abnormality of the eye
- Diplopia
Diplopia
- MedGen UID: 41600
- Concept ID: C0012569
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypometric saccades
Hypometric saccades
- MedGen UID: 98065
- Concept ID: C0423082
- Finding: Finding
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Diplopia
- Abnormality of the musculoskeletal system
- Episodic generalized hypotonia
Episodic generalized hypotonia
- MedGen UID: 870528
- Concept ID: C4024976
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Episodic generalized hypotonia
- 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
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Hemiparesis
Hemiparesis
- MedGen UID: 6783
- Concept ID: C0018989
- Finding: Finding
Abnormality of the nervous system
- Hemiplegia
Hemiplegia
- MedGen UID: 9196
- Concept ID: C0018991
- Finding: Sign or Symptom
Abnormality of the nervous system
- Hereditary episodic ataxia
Hereditary episodic ataxia
- MedGen UID: 314033
- Concept ID: C1720189
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Migraine
Migraine
- MedGen UID: 57451
- Concept ID: C0149931
- 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
- Phonophobia
Phonophobia
- MedGen UID: 155864
- Concept ID: C0751466
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Photophobia
Photophobia
- MedGen UID: 43220
- Concept ID: C0085636
- Finding: Sign or Symptom
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Slurred speech
Slurred speech
- MedGen UID: 65885
- Concept ID: C0234518
- Finding: Finding
Abnormality of the nervous system
- Truncal ataxia
Truncal ataxia
- MedGen UID: 96535
- Concept ID: C0427190
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebellar atrophy
- Ear malformation
- Vertigo
Vertigo
- MedGen UID: 53006
- Concept ID: C0042571
- Finding: Sign or Symptom
Ear malformation
- Vertigo
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.