Isolated Pierre-Robin Syndrome(Isolated Pierre Robin sequence) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Oral disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Oral disorders category
Reported Pathogenic variants
S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
1 | SNRPB/6628 | small nuclear ribonucleoprotein polypeptides B and B1 | 20p13 | Chr20, NC_000020.11 (2461642..2470789, complement) |
9148 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: GARD GTR MalaCards NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |