Aniridia-intellectual deficit syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Walker-Dyson syndrome |
| Number of Symptoms | 5 |
| OrphanetNr: | 1068 |
| OMIM Id: |
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| ICD-10: |
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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:
| Prevalence: | 2 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare genetic intellectual deficit with developmental anomaly
-Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease Syndromic aniridia -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0008053) | Aplasia/Hypoplasia of the iris | Very frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0001083) | Ectopia lentis | Very frequent [Orphanet] | 45 / 7739 | |||
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(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0012795) | Abnormality of the optic disc | Very frequent [Orphanet] | 187 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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