Shprintzen-goldberg syndrome

Disease Term Disease ID Gene Symbol Classification References Source
SHPRINTZEN SYNDROME
C0220704
TBX1 Unknown — Disgenet
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
182212
SKI Unknown — HPO
SHPRINTZEN-GOLDBERG SYNDROME
2462C1321551MONDO:0008426
SKI Causal
23023332
ClinGen ClinVar Disgenet GenCC Orphanet
FBN1 Unknown
16333834 19293843 20301454 8563763 9338588
CTD ClinGen Disgenet Orphanet