EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 16 |
OrphanetNr: | |
OMIM Id: |
616339
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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:0000643) | Blepharospasm | 20 / 7739 | ||||
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
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(HPO:0002072) | Chorea | 53 / 7739 | ||||
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(HPO:0001284) | Areflexia | 198 / 7739 | ||||
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(HPO:0009830) | Peripheral neuropathy | 206 / 7739 | ||||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0001298) | Encephalopathy | 72 / 7739 | ||||
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(HPO:0002827) | Hip dislocation | 94 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0001511) | Intrauterine growth retardation | 358 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0003429) | CNS hypomyelination | 21 / 7739 | ||||
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(HPO:0002059) | Cerebral atrophy | 171 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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