POLYMYOCLONUS, INFANTILE
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 9 |
OrphanetNr: | |
OMIM Id: |
263550
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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:0007295) | Chaotic rapid conjugate ocular movements | 1 / 7739 | ||||
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(HPO:0000737) | Irritability | 93 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0001336) | Myoclonus | 115 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Dancing feet | 1 / 7739 | ||||
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(OMIM) | Dancing eyes | 1 / 7739 | ||||
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(OMIM) | Somatic myoclonus | 1 / 7739 | ||||
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(OMIM) | Infantile polymyoclonus | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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