SHORT STATURE-OBESITY SYNDROME
General Information (adopted from Orphanet):
Synonyms, Signs: |
SSOS |
Number of Symptoms | 16 |
OrphanetNr: | |
OMIM Id: |
269870
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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: |
Autosomal recessive inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000460) | Narrow nose | 14 / 7739 | ||||
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(HPO:0000426) | Prominent nasal bridge | 121 / 7739 | ||||
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(HPO:0000340) | Sloping forehead | 86 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000341) | Narrow forehead | 96 / 7739 | ||||
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(HPO:0008551) | Microtia | 98 / 7739 | ||||
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(HPO:0004209) | Clinodactyly of the 5th finger | 288 / 7739 | ||||
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(HPO:0002983) | Micromelia | 130 / 7739 | ||||
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(HPO:0001156) | Brachydactyly syndrome | 180 / 7739 | ||||
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(HPO:0001513) | Obesity | 172 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(OMIM) | Sloping, narrow forehead | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Long nasal septum | 1 / 7739 | ||||
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(OMIM) | Short limbs | 17 / 7739 | ||||
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(MedDRA:10072883) | Brachydactyly | 153 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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