Central bilateral macrogyria
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 7 |
| OrphanetNr: | 2431 |
| OMIM Id: |
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| 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: | 4 cases [Orphanet] |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Cerebral cortical dysplasia
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0001097) | Keratoconjunctivitis sicca | Occasional [Orphanet] | 25 / 7739 | |||
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(HPO:0002353) | EEG abnormality | Very frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0001347) | Hyperreflexia | Very frequent [Orphanet] | 363 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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