MEGALENCEPHALY, AUTOSOMAL DOMINANT
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
155350
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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: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001355) | Megalencephaly | 39 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) | Primary megalencephaly is defined as a head circumference about the 98th percentile that most likely is due to brain enlargement and is not secondary to disease (review by Petersson et al., 1999). |
| Clinical Description OMIM |
DeMyer (1972) reported instances of apparently autosomal dominant megalencephaly, with male-to-male transmission in some cases. In a family with megalencephaly in 3 generations, the proband also had mediastinal ganglioneuroblastoma. Macrocephaly predominated in males. Schreier et al. ... |