Acromelic frontonasal dysostosis ZSWIM6
Del Dup
NGS
Acromesomelic dysplasia, Hunter-Thompson type GDF5
Del Dup
NGS
Acromesomelic dysplasia, Maroteaux type NPR2
Del Dup
NGS
Alopecia universalis congenita and Atrichia with papular lesions HR
Del Dup
NGS
Amelogenesis imperfecta, type IV DLX3
Sanger
Del Dup
NGS
Aortic aneurysm, familial thoracic 7 MYLK
Del Dup
NGS
Auriculocondylar syndrome NGS panel EDN1, GNAI3, PLCB4
Del Dup
NGS
Basal cell nevus syndrome - SUFU SUFU
Del Dup
NGS
Birt-Hogg-Dube syndrome FLCN
Del Dup
NGS
Blepharocheilodontic syndrome NGS panel CDH1, CTNND1
Del Dup
NGS
Caffey disease COL1A1
Del Dup
NGS
Cardiac valvular dysplasia, X-linked FLNA
Del Dup
NGS
Chondrodysplasia, Grebe type GDF5
Del Dup
NGS
Cleidocranial dysplasia RUNX2
Del Dup
NGS
Cohen syndrome VPS13B
Del Dup
NGS
Diaphanospondylodysostosis BMPER
Del Dup
NGS
Ehlers-Danlos syndrome, spondylodysplastic type, 2 B3GALT6
Del Dup
NGS
Ehlers-Danlos syndrome, type VIIA / VIIB COL1A1, COL1A2
Del Dup
NGS
Exostoses, multiple, type I EXT1
Del Dup
NGS
Exostoses, multiple, type II EXT2
Del Dup
NGS
Fibrodysplasia ossificans progressiva ACVR1
Del Dup
NGS
Fibular hypoplasia and complex brachydactyly GDF5
Del Dup
NGS
Focal dermal hypoplasia PORCN
Del Dup
NGS
Frontometaphyseal dysplasia FLNA
Del Dup
NGS
Geleophysic dysplasia 1 ADAMTSL2
Del Dup
NGS
Genitopatellar syndrome KAT6B
Del Dup
NGS
Glass syndrome SATB2
Del Dup
NGS
Gracile bone dysplasia FAM111A
Del Dup
NGS
Insulin-like growth factor I deficiency IGF1
Del Dup
NGS
Insulin-like growth factor I, resistance to IGF1R
Del Dup
NGS
KBG syndrome ANKRD11
Del Dup
NGS
Kenny-Caffey syndrome, type 1 TBCE
Del Dup
NGS
Kenny-Caffey syndrome, type 2 FAM111A
Del Dup
NGS
Larsen syndrome, autosomal dominant FLNB
Sanger
Del Dup
NGS
Melnick-Needles syndrome FLNA
Del Dup
NGS
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly RUNX2
Del Dup
NGS
Microcephaly-capillary malformation syndrome STAMBP
Del Dup
NGS
Mowat-Wilson syndrome ZEB2
Del Dup
NGS
Multiple pterygium syndrome, lethal type & Escobar variant CHRNG
Del Dup
NGS
Multiple pterygium syndrome, lethal type - CHRNA1 CHRNA1
Del Dup
NGS
Multiple pterygium syndrome, lethal type - CHRND CHRND
Del Dup
NGS
Myhre syndrome SMAD4
Sanger
Del Dup
NGS
Neu-Laxova syndrome 1 PHGDH
Del Dup
NGS
Neu-Laxova syndrome 2 PSAT1
Del Dup
NGS
Neu-Laxova syndrome NGS panel PHGDH, PSAT1
Del Dup
NGS
Noonan syndrome core NGS panel BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2
Del Dup
NGS
Ohdo syndrome, SBBYS variant KAT6B
Del Dup
NGS
Omodysplasia NGS panel FZD2, GPC6
Del Dup
NGS
Opitz GBBB syndrome NGS panel MID1, SPECC1L
Del Dup
NGS
Osteopetrosis, autosomal recessive 6 PLEKHM1
Del Dup
NGS
Otopalatodigital syndrome, type I / II FLNA
Del Dup
NGS
Periventricular nodular heterotopia 1 FLNA
Del Dup
NGS
Phosphoglycerate dehydrogenase deficiency PHGDH
Del Dup
NGS
Phosphoserine aminotransferase deficiency PSAT1
Del Dup
NGS
Pneumothorax, primary spontaneous FLCN
Del Dup
NGS
Popliteal pterygium syndrome IRF6
Del Dup
NGS
Postaxial acrofacial dysostosis DHODH
Del Dup
NGS
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome FLVCR2
Del Dup
NGS
Roberts syndrome & SC phocomelia syndrome ESCO2
Del Dup
NGS
Robinow syndrome, autosomal dominant 2 DVL1
Del Dup
NGS
Saethre-Chotzen syndrome FGFR3, TWIST1
Sanger
Del Dup
NGS
Short stature with endocrinopathy NGS panel BTK, GH1, GHR, GHRHR, GHSR, HESX1, IGF1, IGF1R, LHX3, LHX4, OTX2, POU1F1, PROP1, SOX3
Del Dup
NGS
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies BMP2
Del Dup
NGS
Smith-Lemli-Opitz syndrome DHCR7
Del Dup
NGS
Snyder-Robinson mental retardation syndrome SMS
Del Dup
NGS
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures B3GALT6
Del Dup
NGS
Spondyloepiphyseal dysplasia tarda, X-linked TRAPPC2
Sanger
Del Dup
NGS
Spondyloocular syndrome XYLT2
Del Dup
NGS
Stiff skin syndrome FBN1
Del Dup
NGS
Terminal osseous dysplasia FLNA
Del Dup
NGS
Torg-Winchester syndrome MMP2
Del Dup
NGS
Trichorhinophalangeal syndrome, type I / III TRPS1
Del Dup
NGS
Van der Woude syndrome 1 IRF6
Del Dup
NGS
Van der Woude syndrome 2 GRHL3
Del Dup
NGS
Zimmermann-Laband syndrome 1 KCNH1
Del Dup
NGS
Zimmermann-Laband syndrome 2 ATP6V1B2
Del Dup
NGS

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