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Skeletal dysplasia v0.0 | FGFR2 |
Zornitza Stark gene: FGFR2 was added gene: FGFR2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: FGFR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FGFR2 were set to Craniosynostosis, nonspecific Crouzon syndrome 123500; Pfeiffer syndrome 101600; Beare-Stevenson cutis gyrata syndrome 123790; Apert syndrome 101200; Gastric cancer, somatic 613659; Craniofacial-skeletal-dermatologic dysplasia 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Bent bone dysplasia syndrome 614592; Jackson-Weiss syndrome 123150; LADD syndrome 149730 |