Facioscapulohumeral Muscular Dystrophy(Landouzy-Dejerine dystrophy) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Neuromuscular 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 | SMCHD1/23347 | structural maintenance of chromosomes flexible hinge domain containing 1 | 18p11.32 | Chr18, NC_000018.10 (2655726..2805017) |
149292 nt | 51 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | DNMT3B/1789 | DNA methyltransferase 3 beta | 20q11.21 | Chr20, NC_000020.11 (32762385..32809356) |
46972 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | LRIF1/55791 | ligand dependent nuclear receptor interacting factor 1 | 1p13.3 | Chr1, NC_000001.11 (110874957..110963922, complement) |
88966 nt | 5 | 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 |