DWARFISM, FAMILIAL, WITH MUSCLE SPASMS
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 15 |
| OrphanetNr: | |
| OMIM Id: |
600771
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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:0002209) | Sparse scalp hair | 59 / 7739 | ||||
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(HPO:0000520) | Proptosis | 192 / 7739 | ||||
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(HPO:0003683) | Large beaked nose | 4 / 7739 | ||||
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(HPO:0000400) | Macrotia | 108 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0011964) | Intermittent painful muscle spasms | 1 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0003510) | Severe short stature | 90 / 7739 | ||||
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(HPO:0004779) | Brittle scalp hair | 4 / 7739 | ||||
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(OMIM) | Slightly prominent eyes | 1 / 7739 | ||||
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(OMIM) | Normal intelligence | 81 / 7739 | ||||
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(OMIM) | Intermittent painful trunk and limb muscle contractions | 1 / 7739 | ||||
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(OMIM) | No body hair | 1 / 7739 | ||||
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(OMIM) | Fragile, thin, and sparse scalp hair | 1 / 7739 | ||||
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(OMIM) | Large, low-implanted ears | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Sica et al. (1995) described what they suggested may be a previously unrecognized syndrome. Two brothers, residents of the northern part of Argentina, suffered from intermittent painful muscle contractions in the trunk limbs. These began at the ages ... |