Nodular neuronal heterotopia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 11 |
| OrphanetNr: | 2149 |
| OMIM Id: |
300049
608097 608098 612881 615544 |
| ICD-10: |
Q04.8 |
| 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 X-linked dominant [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic cerebral malformation due to abnormal neuronal migration
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0002353) | EEG abnormality | Very frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0001256) | Intellectual disability, mild | 141 / 7739 | ||||
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(HPO:0001643) | Patent ductus arteriosus | 228 / 7739 | ||||
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(HPO:0001297) | Stroke | 44 / 7739 | ||||
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(HPO:0001647) | Bicuspid aortic valve | 34 / 7739 | ||||
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(HPO:0003256) | Abnormality of the coagulation cascade | 19 / 7739 | ||||
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(HPO:0002536) | Abnormal cortical gyration | Very frequent [Orphanet] | 72 / 7739 | |||
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(HPO:0002269) | Abnormality of neuronal migration | 10 / 7739 | ||||
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(HPO:0002282) | Heterotopia | 21 / 7739 | ||||
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(HPO:0001423) | X-linked dominant inheritance | 69 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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