MEF2C haploinsufficiency syndrome
GPTKB entity
Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
neurological disorder |
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:causedBy |
mutation in MEF2C gene
|
| gptkbp:containsGene |
gptkb:MEF2C
|
| gptkbp:firstDescribed |
2009
|
| gptkbp:frequency |
rare
|
| gptkbp:hasICD-10 |
Q99.9
|
| https://www.w3.org/2000/01/rdf-schema#label |
MEF2C haploinsufficiency syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
5q14.3
|
| gptkbp:OMIM |
613443
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
unknown
|
| gptkbp:prognosis |
variable
|
| gptkbp:symptom |
hypotonia
intellectual disability seizures autistic features limited or absent speech severe speech impairment stereotypic movements |
| gptkbp:synonym |
MRD20
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations |
| gptkbp:treatment |
physical therapy
speech therapy antiepileptic drugs supportive therapy |
| gptkbp:bfsParent |
gptkb:MEF2C
|
| gptkbp:bfsLayer |
7
|