CEREBELLAR VERMIS APLASIA WITH ASSOCIATED FEATURES SUGGESTING SMITH-LEMLI-OPITZSYNDROME AND MECKEL SYNDROME
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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9
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OrphanetNr:
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OMIM Id:
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213010
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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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No data available.
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Inheritance:
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Autosomal 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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No data available.
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1
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(HPO:0000079)
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Abnormality of the urinary system |
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88 / 7739
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2
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(HPO:0002085)
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Occipital encephalocele |
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20 / 7739
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3
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(HPO:0100259)
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Postaxial polydactyly |
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85 / 7739
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4
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(HPO:0001405)
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Periportal fibrosis |
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5 / 7739
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5
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(OMIM)
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Bile duct accentuation |
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1 / 7739
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6
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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7
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(HPO:0002335)
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Agenesis of cerebellar vermis |
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25 / 7739
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8
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(OMIM)
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Immature glomeruli |
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1 / 7739
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9
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(OMIM)
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Dilated collecting ducts |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |