Klippel-feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism; Kfs4

Description

Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015).For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).

Genes related to Klippel-feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism; Kfs4

MYO18B

Clinical Features

Top most frequent phenotypes and symptoms related to Klippel-feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism; Kfs4

Short stature
Generalized hypotonia
Microcephaly
Scoliosis
Micrognathia
Motor delay
Ptosis
Abnormal facial shape
Muscle weakness
Myopathy

And another 19 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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Klippel-feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism; Kfs4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Klippel-Feil syndrome (NGS panel for 5 genes). By CGC Genetics in Portugal. GDF6, GDF3, MEOX1, RIPPLY2, MYO18B Specificity 20 % Genes 100 %
Klippel-Feil syndrome (NGS panel for 5 genes). By CGC Genetics in Portugal. GDF6, GDF3, MEOX1, RIPPLY2, MYO18B Specificity 20 % Genes 100 %
Congenital Myopathy Sequencing Panel. By PreventionGenetics PreventionGenetics in United States. NEB, DNM2, LMNA, TTN, KLHL9, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1 , (...) View the complete list with 10 more genes Panel GTR000511732 complete gene list NEB, DNM2, LMNA, TTN, KLHL9, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, BICD2, COL6A2, COL6A3, COL6A1, COL12A1, KLHL41, STAC3, LMOD3, MICU1, MYO18B Specificity 4 % Genes 100 %
Comprehensive Neuromuscular Sequencing Panel. By PreventionGenetics PreventionGenetics in United States. AGL, GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, ISCU, CHAT, PFKM, PYGM, GBE1, DPAGT1, DMD, CHRNE , (...) View the complete list with 104 more genes Panel GTR000552444 complete gene list AGL, GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, ISCU, CHAT, PFKM, PYGM, GBE1, DPAGT1, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, CLCN1, FKRP, CAV3, DYSF, SCN4A, TTN, KLHL9, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, ATP2A1, BAG3, FHL1, SELENON, CACNA1S, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, BICD2, SYNE1, TMEM43, EMD, TRAPPC11, DNAJB6, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, SNAP25, CHRNG, COL12A1, GLE1, KLHL41, LIMS2, TNPO3, TNNI2, HNRNPDL, TOR1AIP1, POMK, STAC3, LMOD3, GMPPB, TNNT3, MYH3, ECEL1, STIM1, MICU1, COL13A1, SYT2, PREPL, ALG14, HNRNPA2B1, HNRNPA1, MYO18B Specificity 1 % Genes 100 %
Klippel-Feil syndrome Comprehensive panel. By Connective Tissue Gene Tests in United States. GDF6, GDF3, MEOX1, RIPPLY2, MYO18B Specificity 20 % Genes 100 %
Klippel-Feil syndrome NGS panel. By Connective Tissue Gene Tests in United States. GDF6, GDF3, MEOX1, RIPPLY2, MYO18B Specificity 20 % Genes 100 %
Klippel-Feil syndrome Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. GDF6, GDF3, MEOX1, RIPPLY2, MYO18B Specificity 20 % Genes 100 %
Klippel-Feil syndrome type 4, autosomal dominant, with myopathy and facial dysmorphism. By Centogene AG - the Rare Disease Company in Germany. MYO18B Specificity 100 % Genes 100 %
Klippel-feil syndrome panel. By Centogene AG - the Rare Disease Company in Germany. GDF6, GDF3, MEOX1, MYO18B Specificity 25 % Genes 100 %
MYO18B. By Fulgent Genetics Fulgent Genetics in United States. MYO18B Specificity 100 % Genes 100 %
KLIPPEL-FEIL SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. GDF6, GDF3, MEOX1, MYO18B, PAX1 Specificity 20 % Genes 100 %

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