LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 14 |
OrphanetNr: | |
OMIM Id: |
615889
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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:0008209) | Premature ovarian failure | 28 / 7739 | ||||
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(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
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(HPO:0000726) | Dementia | 131 / 7739 | ||||
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(HPO:0002371) | Loss of speech | 15 / 7739 | ||||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0001337) | Tremor | 200 / 7739 | ||||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0001332) | Dystonia | 197 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0002186) | Apraxia | 22 / 7739 | ||||
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(HPO:0001272) | Cerebellar atrophy | rare [HPO:skoehler] | 197 / 7739 | |||
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(HPO:0002180) | Neurodegeneration | 31 / 7739 | ||||
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(HPO:0006980) | Progressive leukoencephalopathy | 3 / 7739 | ||||
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(HPO:0006970) | Periventricular leukomalacia | 7 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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