Disease Aliases (25) | Facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles Facioscapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy, infantile Fmd Frg1 facioscapulohumeral muscular dystrophy Fsh dystrophy Fshd Fshd1 Fshd1a Fshmd1a Facioscapulohumeral muscular dystrophy 1a Facioscapulohumeral myopathy Landouzy-dejerine muscular dystrophy Landouzy-dejerine dystrophy Landouzy-dejerine muscular dystrophy facioscapulohumeral muscular dystrophy, infantile, included Landouzy-dejerine myopathy Muscular dystrophy, facioscapulohumeral, type 1 Muscular dystrophy, facioscapulohumeral, type 1a Muscular dystrophy, facioscapulohumeral Facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles, included Facioscapulohumeral muscular dystrophy 1 Facioscapulohumeral muscular dystrophy 1; fshd1 Facioscapulohumeral muscular dystrophy caused by mutation in frg1 Facioscapulohumeral muscular dystrophy type 1 Facioscapulohumeral muscular dystrophy type 1a |
Associated Genes (5) NCBI-RefSeq: DNMT3B (DNA methyltransferase 3 beta) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: DUX4 (Double homeobox 4) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: FRG1 (FSHD region gene 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: DUX4L1 (Double homeobox 4 like 1 (pseudogene)) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: SMCHD1 (Structural maintenance of chromosomes flexible hinge domain containing 1) External Links: gnomAD browser Ensembl GeneCards
| |||||||
Cross-references of Facioscapulohumeral muscular dystrophy | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations |