Brachydactyly, Type B1; Bdb1

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 Brachydactyly, Type B1; Bdb1

ROR2
NOG

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Brachydactyly, Type B1; Bdb1

Sensorineural hearing impairment
Brachydactyly
Ventricular septal defect
Syndactyly
Micropenis
Camptodactyly
Finger syndactyly
Hypermetropia
Toe syndactyly
Short distal phalanx of finger

And another 36 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.)
— The onset for some of the known clinical features related to this disease may vary, including congenital onset .

Alternative names

Brachydactyly, Type B1; Bdb1 Is also known as bdb, brachydactyly, type b.

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.

Brachydactyly, Type B1; Bdb1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Abnormal/Ambiguous Genitalia Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...) View the complete list with 52 more genes Panel complete gene list ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C, ARX, GRIP1, FRAS1, SCARF2, B3GLCT, CHD7, BCOR, ICK, RSPO1, WDR60, FEZF1, FAT4, CREBBP, TCTN3, FREM2, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, ESCO2, CCNQ, DHCR24, DHCR7, DHH, SPECC1L, DYNC2H1, DNMT3B, NSMF, AKR1C2, GATA4, KISS1R, HCCS, RIPK4, HOXA13, HSD17B3, HSD3B2, IRF6, ANOS1, AR, LHCGR, LMNA, MAP3K1, MKKS, MKS1, NEK1, NR0B1, NR5A1, OPHN1, ATRX, POR, PTPN11 Specificity 2 % Genes 50 %
ROR2 sequencing. By Genetic Services Laboratory University of Chicago (United States). ROR2 Specificity 100 % Genes 50 %
Cornelia de Lange Syndrome PLUS Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24, EP300 , (...) View the complete list with 1 more genes Panel complete gene list ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24, EP300, RAD21 Specificity 5 % Genes 50 %
ROR2 deletion/duplication analysis. By Genetic Services Laboratory University of Chicago (United States). ROR2 Specificity 100 % Genes 50 %
Cornelia de Lange PLUS Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, AFF4, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24 , (...) View the complete list with 2 more genes Panel complete gene list ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, AFF4, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24, EP300, RAD21 Specificity 5 % Genes 50 %
ROR2 - Robinow syndrome, autosomal recessive. By Centre of Molecular Diseases (CMM) CHUV (Switzerland). ROR2 Specificity 100 % Genes 50 %
ROR2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). ROR2 Specificity 100 % Genes 50 %
ROR2. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). ROR2 Specificity 100 % Genes 50 %

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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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