Lethal congenital contracture syndrome type 3
General Information (adopted from Orphanet):
| Synonyms, Signs: |
LCCS3 |
| Number of Symptoms | 5 |
| OrphanetNr: | 137783 |
| OMIM Id: |
611369
614915 |
| ICD-10: |
Q68.8 |
| 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: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Lethal congenital contracture syndrome -Rare developmental defect during embryogenesis Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0002804) | Arthrogryposis multiplex congenita | 93 / 7739 | ||||
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(HPO:0002093) | Respiratory insufficiency | 410 / 7739 | ||||
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(HPO:0003202) | Skeletal muscle atrophy | 281 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0003811) | Neonatal death | 44 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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