Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
muscular dystrophy |
| gptkbp:affects |
central nervous system
muscular system ocular system |
| gptkbp:category |
genetic disorder
muscular dystrophy |
| gptkbp:causedBy |
mutation in POMGNT1 gene
|
| gptkbp:firstDescribed |
1977
|
| https://www.w3.org/2000/01/rdf-schema#label |
Muscle-eye-brain disease
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
253280
|
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
variable
|
| gptkbp:symptom |
hypotonia
intellectual disability muscle weakness myopia seizures brain malformations eye abnormalities |
| gptkbp:synonym |
MEB disease
muscle-eye-brain syndrome |
| gptkbp:treatment |
supportive care
occupational therapy physical therapy seizure management |
| gptkbp:bfsParent |
gptkb:muscular_dystrophy
|
| gptkbp:bfsLayer |
6
|