Cone-rod dystrophy 12
Summary
Available tests
Clinical tests (38 available)
Genes See tests for all associated and related genes
Also known as: AC133, CD133, CORD12, MCDR2, MSTP061, PROML1, RP41, STGD4, PROM1
Summary: prominin 1
Clinical features
Help- Abnormality of the eye
- Abnormal light- and dark-adapted electroretinogram
Abnormal light- and dark-adapted electroretinogram
- MedGen UID: 462461
- Concept ID: C3151111
- Finding: Finding
Abnormality of the eye
- Bull eye maculopathy
Bull eye maculopathy
- MedGen UID: 321812
- Concept ID: C1828210
- 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
- Cone-rod dystrophy
Cone-rod dystrophy
- MedGen UID: 896366
- Concept ID: C4085590
- Finding: Disease or Syndrome
Abnormality of the eye
- Night blindness
Night blindness
- MedGen UID: 10349
- Concept ID: C0028077
- Finding: Disease or Syndrome
Abnormality of the eye
- Reduced visual acuity
Reduced visual acuity
- MedGen UID: 65889
- Concept ID: C0234632
- Finding: Finding
Abnormality of the eye
- Abnormal light- and dark-adapted electroretinogram
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