Infantile choroido cerebral calcification syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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5
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OrphanetNr:
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1313
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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:
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Prevalence:
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10
cases
[Orphanet]
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Inheritance:
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Autosomal recessive
[Orphanet]
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Age of onset:
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Neonatal
Infancy
[Orphanet]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0000486)
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Strabismus |
Very frequent [Orphanet]
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576 / 7739
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2
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(HPO:0001250)
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Seizures |
Very frequent [Orphanet]
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1245 / 7739
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3
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(HPO:0001347)
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Hyperreflexia |
Very frequent [Orphanet]
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363 / 7739
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4
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(HPO:0002514)
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Cerebral calcification |
Very frequent [Orphanet]
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89 / 7739
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5
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(HPO:0012758)
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Neurodevelopmental delay |
Very frequent [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |