Brachydactyly, Type B1; Bdb1
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.
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
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
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
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 % |
You can get up to 71 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC; CMS20 OCULOPHARYNGEAL MUSCULAR DYSTROPHY CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1 MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13 MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS; IMD11B ROBINOW-SORAUF SYNDROME