Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:rare_disease
|
| gptkbp:affects |
gptkb:nervous_system
skeletal system |
| gptkbp:causedBy |
mutations in RECQL4 gene
|
| gptkbp:firstDescribed |
1950
|
| gptkbp:frequency |
very rare
|
| gptkbp:hasOrphanetID |
ORPHA:138
|
| gptkbp:ICD-10_code |
Q87.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:namedAfter |
Felix Baller
M. Gerold |
| gptkbp:OMIM |
218600
|
| gptkbp:symptom |
short stature
developmental delay craniosynostosis radial aplasia |
| gptkbp:synonym |
craniosynostosis with radial aplasia
|
| gptkbp:treatment |
supportive care
surgical intervention |
| gptkbp:bfsParent |
gptkb:RECQL4
gptkb:RECQL4_(human) |
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
Baller-Gerold syndrome
|