Lipomatosis, Multiple Symmetric(Multiple symmetric lipomatosis) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive, MT inheritance mode(s) within the Skin disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive, MT inheritance mode(s) within the Skin 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 | MFN2/9927 | mitofusin 2 | 1p36.22 | Chr1, NC_000001.11 (11980444..12013508) |
33065 nt | 22 | 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 |