LETHAL CONGENITAL CONTRACTURE SYNDROME 4
General Information (adopted from Orphanet):
| Synonyms, Signs: |
LCCS4 |
| Number of Symptoms | 1 |
| OrphanetNr: | |
| OMIM Id: |
614915
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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: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
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(HPO:0005684) | Distal arthrogryposis | 31 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Molecular genetics OMIM |
Markus et al. (2012) studied 2 consanguineous families from apparently unrelated Bedouin tribes in southern Israel in which affected individuals had a clinical phenotype 'identical to that of LCCS3' (611369) but were negative for mutation in the PIP5K1C ... |