Cataract - nephropathy - encephalopathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Crome syndrome |
| Number of Symptoms | 14 |
| OrphanetNr: | 1380 |
| OMIM Id: |
218900
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| ICD-10: |
Q87.8 |
| 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 recessive [Orphanet] |
| Age of onset: |
Neonatal [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 renal or urinary tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease |
Symptom Information:
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(HPO:0008682) | Acute tubular necrosis | 4 / 7739 | ||||
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(HPO:0000124) | Renal tubular dysfunction | Very frequent [Orphanet] | 46 / 7739 | |||
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(HPO:0000639) | Nystagmus | Frequent [Orphanet] | 555 / 7739 | |||
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(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0000519) | Congenital cataract | 73 / 7739 | ||||
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(HPO:0002383) | Encephalitis | Very frequent [Orphanet] | 41 / 7739 | |||
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(HPO:0001298) | Encephalopathy | 72 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0007033) | Cerebellar dysplasia | 13 / 7739 | ||||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Very frequent [Orphanet] | 137 / 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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