Spondylometaphyseal Dysplasia, Megarbane-dagher-melki Type; Smdmdm

Genes related to Spondylometaphyseal Dysplasia, Megarbane-dagher-melki Type; Smdmdm

PAM16

Clinical Features

Top most frequent phenotypes and symptoms related to Spondylometaphyseal Dysplasia, Megarbane-dagher-melki Type; Smdmdm

Global developmental delay
Short stature
Generalized hypotonia
Growth delay
Low-set ears
Depressed nasal bridge
Short neck
Frontal bossing
Anteverted nares
Respiratory insufficiency

And another 31 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Spondylometaphyseal Dysplasia, Megarbane-dagher-melki Type; Smdmdm Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...) View the complete list with 34 more genes Panel GTR000559319 complete gene list COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410, B3GAT3, BGN, B3GALT6, EIF2AK3, SMARCAL1, NEK1, RNU4ATAC, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, FLNB, LIFR, RAB33B, TRAPPC2, MATN3, DDR2, MMP13, INPPL1, MMP9, PCYT1A, NPR2, IHH, GPX4, XYLT1, PAPSS2, FN1, ACAN, KIF22, NANS, LONP1, PAM16, RSPRY1 Specificity 2 % Genes 100 %
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel. By Connective Tissue Gene Tests in United States. COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...) View the complete list with 34 more genes Panel GTR000559381 complete gene list COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410, B3GAT3, BGN, B3GALT6, EIF2AK3, SMARCAL1, NEK1, RNU4ATAC, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, FLNB, LIFR, RAB33B, TRAPPC2, MATN3, DDR2, MMP13, INPPL1, MMP9, PCYT1A, NPR2, IHH, GPX4, XYLT1, PAPSS2, FN1, ACAN, KIF22, NANS, LONP1, PAM16, RSPRY1 Specificity 2 % Genes 100 %
Spondylo-Epi-Metaphyseal dysplasias NGS panel. By Connective Tissue Gene Tests in United States. COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...) View the complete list with 34 more genes Panel GTR000559385 complete gene list COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410, B3GAT3, BGN, B3GALT6, EIF2AK3, SMARCAL1, NEK1, RNU4ATAC, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, FLNB, LIFR, RAB33B, TRAPPC2, MATN3, DDR2, MMP13, INPPL1, MMP9, PCYT1A, NPR2, IHH, GPX4, XYLT1, PAPSS2, FN1, ACAN, KIF22, NANS, LONP1, PAM16, RSPRY1 Specificity 2 % Genes 100 %
PAM16. By Fulgent Genetics Fulgent Genetics in United States. PAM16 Specificity 100 % Genes 100 %
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel. By Insight Medical Genetics in United States. ALPL, FKBP10, IFITM5, COL2A1, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, AGPS, PPIB, FGFR3, FGFR2, PEX7, SLC26A2, FGFR1, COL11A1, TWIST1 , (...) View the complete list with 13 more genes Panel GTR000518899 complete gene list ALPL, FKBP10, IFITM5, COL2A1, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, AGPS, PPIB, FGFR3, FGFR2, PEX7, SLC26A2, FGFR1, COL11A1, TWIST1, SOX9, TMEM38B, BMP1, WNT1, SERPINH1, IFT80, EVC, EVC2, DYNC2H1, ESCO2, ROR2, INPPL1, PAM16 Specificity 4 % Genes 100 %