Spinal Muscular Atrophy With Congenital Bone Fractures 2; Smabf2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Spinal Muscular Atrophy With Congenital Bone Fractures 2; Smabf2

ASCC1

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Clinical Features

Top most frequent phenotypes and symptoms related to Spinal Muscular Atrophy With Congenital Bone Fractures 2; Smabf2

Global developmental delay
Generalized hypotonia
Muscle weakness
Flexion contracture
Peripheral neuropathy
Skeletal muscle atrophy
Dysphagia
Respiratory insufficiency
Respiratory distress
Patent ductus arteriosus

And another 17 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Spinal Muscular Atrophy With Congenital Bone Fractures 2; Smabf2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ASCC1. By Fulgent Genetics Fulgent Genetics (United States). ASCC1 Specificity 100 % Genes 100 %
SPINAL MUSCULAR ATROPHY WITH FRACTURES, PRENATAL (SMABF). By Laboratorio de Genetica Clinica SL (Spain). TRIP4, ASCC1 Specificity 50 % Genes 100 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics (Canada). RNASEL, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, SMARCB1, STK11, BUB1B, EPCAM, TERT, TGFBR1, TINF2, TP53, TSC1 , (...) View the complete list with 122 more genes Panel complete gene list RNASEL, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, SMARCB1, STK11, BUB1B, EPCAM, TERT, TGFBR1, TINF2, TP53, TSC1, TSC2, UROD, VHL, WAS, WRN, WT1, XPA, XPC, XRCC3, GLMN, RTEL1, SUFU, KIF1B, CDC73, CD96, PALLD, DICER1, NDUFA13, CDH1, CDK4, CDKN1B, CDKN2A, TMC6, CEBPA, SBDS, LYST, GALNT12, BRIP1, TMC8, FANCL, RHBDF2, ANTXR1, RSPO1, POU6F2, ANTXR2, FANCM, SLX4, ASCC1, FANCI, CYLD, CYP21A2, SDHAF2, TMEM127, PALB2, DDB2, ESCO2, FLCN, KLHDC8B, DIS3L2, DKC1, EHBP1, EPHB2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, EXT1, EXT2, FAH, AIP, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FH, AKT1, GATA2, ALK, GLI3, GPC3, HFE, APC, KDR, KIT, LIG4, SMAD4, MAX, MC1R, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH6, MSMB, MSR1, MTAP, MUTYH, NBN, NF1, NF2, ATM, NTRK1, PDE11A, PDGFRA, ATR, PIK3CA, AXIN2, PMS2, PHOX2B, POLD1, POLE, POLH, PRKAR1A, BAP1, BARD1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51B, RAD51D, RB1, RECQL4, RET Specificity 1 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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