Optic atrophy 10 with or without ataxia, intellectual disability, and seizures
- Synonyms
- OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES; Optic atrophy 10 with or without ataxia, mental retardation, and seizures
Available tests
21 tests are in the database for this condition.
Clinical tests (21 available)
Clinical features
Help- Abnormality of the eye
- Blind-spot enlargement
Blind-spot enlargement
- MedGen UID: 508920
- Concept ID: C0152192
- Finding: Finding
Abnormality of the eye
- Central scotoma
Central scotoma
- MedGen UID: 57750
- Concept ID: C0152191
- Finding: Finding
Abnormality of the eye
- Color vision defect
Color vision defect
- MedGen UID: 115964
- Concept ID: C0234629
- Finding: Finding
Abnormality of the eye
- Congenital blue dot cataract
Congenital blue dot cataract
- MedGen UID: 138007
- Concept ID: C0344523
- Finding: Congenital Abnormality
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Optic disc pallor
Optic disc pallor
- MedGen UID: 108218
- Concept ID: C0554970
- Finding: Finding
Abnormality of the eye
- Reduced visual acuity
Reduced visual acuity
- MedGen UID: 65889
- Concept ID: C0234632
- Finding: Finding
Abnormality of the eye
- Blind-spot enlargement
- Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
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
- Myoclonic seizure
Myoclonic seizure
- MedGen UID: 1385980
- Concept ID: C4317123
- Finding: Sign or Symptom
Abnormality of the nervous system
- Photophobia
Photophobia
- MedGen UID: 43220
- Concept ID: C0085636
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebellar ataxia
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.