MEGALENCEPHALY, AUTOSOMAL DOMINANT
General Information (adopted from Orphanet):
Synonyms, Signs: |
|
Number of Symptoms | 2 |
OrphanetNr: | |
OMIM Id: |
155350
|
ICD-10: |
|
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant inheritance [Omim] |
Age of onset: |
|
Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
|
(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
(HPO:0001355) | Megalencephaly | 39 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|
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. ... |