Statements (51)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
muscular dystrophy |
| gptkbp:affects |
gptkb:nervous_system
muscular system ocular system |
| gptkbp:associatedWith |
AGRN
B3GALNT2 B3GNT1 DAG1 DPM1 DPM2 DPM3 FKRP FKTN GMPPB ISPD LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 B4GAT1 CRPPA GTDC2 SGK196 TMEM5 |
| gptkbp:causedBy |
genetic disorder
|
| gptkbp:frequency |
very rare
|
| gptkbp:hasLifeExpectancy |
less than 3 years
|
| gptkbp:hasOrphanetID |
ORPHA:1020
|
| gptkbp:hasTypicalOnset |
congenital
|
| https://www.w3.org/2000/01/rdf-schema#label |
Walker–Warburg syndrome
|
| gptkbp:ICD-10_code |
G71.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:namedAfter |
gptkb:Arthur_Earl_Walker
Moses Warburg |
| gptkbp:OMIM |
236670
|
| gptkbp:prognosis |
poor
|
| gptkbp:symptom |
hypotonia
muscle weakness seizures developmental delay brain malformations eye abnormalities |
| gptkbp:synonym |
gptkb:WWS
Cerebroocular dysgenesis Warburg syndrome |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Arthur_Earl_Walker
|
| gptkbp:bfsLayer |
8
|