Cardiomyopathy-renal anomalies
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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3
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OrphanetNr:
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90022
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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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2
cases
- PMID: 17159516 [IBIS]
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Inheritance:
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Autosomal recessive
X-linked
- PMID: 17159516 [IBIS]
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Age of onset:
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Neonatal
Infancy
- PMID: 17159516 [IBIS]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Cardiomyopathy
-Rare cardiac disease
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Comment:
| Two male siblings were affected by cardiomyopathy and genitourinary tract abnormalities. They were born to nonconsanguineous, phenotypically normal parents (PMID:17159516). |
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |