X-linked retinal dysplasia
General Information (adopted from Orphanet):
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Synonyms, Signs:
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PRD
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Number of Symptoms
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9
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OrphanetNr:
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1852
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OMIM Id:
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312550
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ICD-10:
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Q14.1
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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X-linked recessive inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Retinal dystrophy
-Rare eye disease
-Rare genetic disease
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1
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(HPO:0000486)
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Strabismus |
Frequent [Orphanet]
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576 / 7739
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2
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(HPO:0007973)
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Retinal dysplasia |
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27 / 7739
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3
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(HPO:0000510)
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Rod-cone dystrophy |
Very frequent [Orphanet]
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266 / 7739
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4
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(HPO:0008046)
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Abnormality of the retinal vasculature |
Very frequent [Orphanet]
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41 / 7739
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5
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(HPO:0000639)
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Nystagmus |
Very frequent [Orphanet]
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555 / 7739
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6
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(HPO:0001493)
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Falciform retinal fold |
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6 / 7739
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7
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(HPO:0000572)
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Visual loss |
Very frequent [Orphanet]
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272 / 7739
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8
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(HPO:0001417)
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X-linked inheritance |
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173 / 7739
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9
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(OMIM)
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Elevated retinal fold from optic disc over macula |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |