Cone-rod dystrophy 20
Summary
Available tests
Clinical tests (18 available)
Clinical features
Help- Abnormality of the eye
- Blue color blindness
Blue color blindness
- MedGen UID: 57827
- Concept ID: C0155017
- Finding: Disease or Syndrome
Abnormality of the eye
- Bone spicule pigmentation of the retina
Bone spicule pigmentation of the retina
- MedGen UID: 323029
- Concept ID: C1836926
- Finding: Finding
Abnormality of the eye
- Central scotoma
Central scotoma
- MedGen UID: 57750
- Concept ID: C0152191
- Finding: Finding
Abnormality of the eye
- Cone-rod dystrophy
Cone-rod dystrophy
- MedGen UID: 896366
- Concept ID: C4085590
- Finding: Disease or Syndrome
Abnormality of the eye
- Constriction of peripheral visual field
Constriction of peripheral visual field
- MedGen UID: 68613
- Concept ID: C0235095
- Finding: Finding
Abnormality of the eye
- High myopia
High myopia
- MedGen UID: 78759
- Concept ID: C0271183
- Finding: Disease or Syndrome
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
- Visual impairment
Visual impairment
- MedGen UID: 777085
- Concept ID: C3665347
- Finding: Finding
Abnormality of the eye
- Blue color blindness
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.