Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Familial brachial plexus neuropathy | SEPT9 (17q25) | |
| Familial hypertrophic cardiomyopathy | MYH7 (14q12) myosin, heavy polypeptide 7, cardiac muscle, beta | |
| Familial limb-girdle myasthenia | DOK7 (4p16.2) docking protein 7 | |
| familial sinusal bradycardia | HCN4 (15q24.1) hyperpolarization activated cyclic nucleotide-gated potassium channel 4 | |
| Familial spastic paraplegia, autosomal dominant, 1 | SPG3A (14q22.1) atlastin | |
| Familial spastic paraplegia, autosomal dominant, 2 | SPAST (2p24-p21) spastin | |
| Fatty aldehyde dehydrogenase | ALDH3A2 (17p11.2) aldehyde dehydrogenase 3A2 | |
| Fibrodysplasia ossificans progressiva | ACVR1 (2q23-q24) activin A receptor, type II-like kinase 2 | |
| Fibrosis of extraocular muscles, congenital, 1 | KIF21A (12q12) kinesin family member 21A | |
| Fibrosis of extraocular muscles, congenital, 2 | PHOX2A (11q13.2) paired-like aristaless homeobox protein 2A | |
| Fibrosis of extraocular muscles, congenital, 3 | ? - (16q24.2-q24.3) | |
| Filamin C-related | FLNC (7q32) filamin C, gamma (actin-binding protein - 280) | |
| Filaminopathy, autosomal dominant | FLNC (7q32) filamin C, gamma (actin-binding protein - 280) | |
| Friedreich ataxia | FXN (9q13-q21.1) frataxin | |
| friedreich ataxia 2 | ? - (9p23-p11) | |
| Friedreich ataxia with retained reflexes | FXN (9q13-q21.1) frataxin | |
| fukuyama congenital muscular dystrophy | FKTN (9q31-q33) fukutin |