Dystonia 28(DYT-KMT2B)
An Autosomal dominant mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Neurodevelopmental 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 | KMT2B/9757 | lysine methyltransferase 2B | 19q13.12 | Chr19, NC_000019.10 (35718003..35738878) |
20876 nt | 38 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: GTR MalaCards NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |