Baller-Gerold syndrome

GPTKB entity

Statements (23)
Predicate Object
gptkbp:instanceOf 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
https://www.w3.org/2000/01/rdf-schema#label Baller-Gerold syndrome
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 7