Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
muscular dystrophy |
| gptkbp:associatedWith |
FKRP
FKTN LARGE1 POMT1 POMT2 |
| gptkbp:category |
genetic disorder
muscular dystrophy muscle disease |
| gptkbp:causedBy |
genetic disorder
|
| gptkbp:diagnosedBy |
clinical evaluation
MRI genetic testing |
| gptkbp:firstDescribed |
1942
|
| https://www.w3.org/2000/01/rdf-schema#label |
Walker-Warburg syndrome
|
| gptkbp:ICD-10_code |
G71.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:lifeExpectancy |
usually less than 3 years
|
| gptkbp:namedAfter |
gptkb:Arthur_Earl_Walker
Melek Warburg |
| gptkbp:OMIM |
236670
|
| gptkbp:prevalence |
less than 1 in 100,000
|
| gptkbp:prognosis |
poor
|
| gptkbp:symptom |
muscle weakness
seizures developmental delay brain malformations eye abnormalities |
| gptkbp:treatment |
supportive care
symptom management |
| gptkbp:bfsParent |
gptkb:muscular_dystrophy
|
| gptkbp:bfsLayer |
6
|