Infantile spasms - broad thumbs
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Tsao-Ellingson syndrome
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Number of Symptoms
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15
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OrphanetNr:
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3173
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OMIM Id:
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ICD-10:
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G40.4
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Epileptic syndrome
-Rare genetic disease
-Rare neurologic disease
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1
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(HPO:0000045)
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Abnormality of the scrotum |
Very frequent [Orphanet]
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14 / 7739
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2
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(HPO:0000252)
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Microcephaly |
Very frequent [Orphanet]
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832 / 7739
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3
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(HPO:0000444)
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Convex nasal ridge |
Very frequent [Orphanet]
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87 / 7739
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4
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(HPO:0000239)
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Large fontanelles |
Very frequent [Orphanet]
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135 / 7739
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5
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(HPO:0000277)
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Abnormality of the mandible |
Very frequent [Orphanet]
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394 / 7739
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6
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(HPO:0000494)
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Downslanted palpebral fissures |
Very frequent [Orphanet]
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328 / 7739
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7
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(HPO:0000316)
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Hypertelorism |
Very frequent [Orphanet]
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644 / 7739
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8
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(HPO:0000518)
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Cataract |
Very frequent [Orphanet]
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454 / 7739
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9
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(HPO:0002353)
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EEG abnormality |
Very frequent [Orphanet]
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188 / 7739
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10
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(HPO:0001250)
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Seizures |
Very frequent [Orphanet]
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1245 / 7739
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11
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(HPO:0001172)
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Abnormality of the thumb |
Very frequent [Orphanet]
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103 / 7739
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12
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(HPO:0001638)
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Cardiomyopathy |
Very frequent [Orphanet]
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192 / 7739
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13
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(HPO:0007370)
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Aplasia/Hypoplasia of the corpus callosum |
Very frequent [Orphanet]
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180 / 7739
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14
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(HPO:0012758)
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Neurodevelopmental delay |
Very frequent [Orphanet]
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949 / 7739
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15
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(HPO:0002120)
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Cerebral cortical atrophy |
Very frequent [Orphanet]
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187 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |