Brown-Vialetto-van Laere Syndrome 2(Riboflavin transporter deficiency type 2)
An Autosomal recessive mode(s) within the Neuromuscular disorders category
An Autosomal recessive mode(s) within the Neuromuscular disorders category
Reported Pathogenic variants
Candidate Gene Information
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | SLC52A2/79581 | solute carrier family 52 member 2 | 8q24.3 | Chr8, NC_000008.11 (144358552..144361272) |
2721 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities