Disease Aliases (25) | Catch 22 Craniosynostosis with arachnodactyly and abdominal hernias Cayler cardiofacial syndrome Conotruncal anomaly face syndrome Craniosynostosis and marfanoid disorder, type 1 Digeorge sequence Digeorge syndrome Marfanoid craniosynostosis syndrome Marfanoid disorder with craniosynostosis, type i Marfanoid disorder with craniosynostosis type 1 Marfanoid disorder with craniosynostosis, type 1 Marfanoid-craniosynostosis syndrome Microdeletion 22q11.2 Sgs Sedlackova syndrome Shprintzen golberg craniosynostosis Shprintzen golberg craniosynostosis syndrome Shprintzen goldberg craniosynostosis syndrome Shprintzen syndrome Shprintzen-goldberg craniosynostosis syndrome Shprintzen-goldberg craniosynostosis syndrome; sgs Shprintzen-goldberg marfanoid syndrome Takao syndrome Velocardiofacial syndrome |
Associated Genes (2) NCBI-RefSeq: FBN1 (Fibrillin 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: SKI (SKI proto-oncogene) External Links: gnomAD browser Ensembl GeneCards
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Cross-references of Shprintzen-Goldberg syndrome | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations |