Disease phenotype
OMIM
Gene symbol (chromosome)
protein
protein
? - (1q42)
? - (19q13)
? - (Xp22.3)
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Early onset calf distal myopathy (1.30, 4.13) | ||
| Early onset distal myopathy with KLHL9 mutations (4.14) | ||
| Electron transfer flavoprotein, Beta polypeptide (9.19) | ||
| Emery-Dreifuss Autosomal recessive (1.4, 1.12, 1.5, 10.26, 14.51) | ||
| Emery-dreifuss muscular dystrophy 1 (1.2) | ||
| Emery-dreifuss muscular dystrophy 4 (1.6, 13.47, 16.14, 10.64) | ||
| Emery-dreifuss muscular dystrophy 6 (1.3, 5.18, 5.19, 2.15, 5.20) | ||
| Emery-Dreifuss muscular dystrophy, autosomal dominant (1.4, 1.12, 1.5, 10.26, 14.51) | ||
| Endocardial fibroelastosis-2 (10.54, 10.69) | ||
| Enolase deficiency (9.14) | ||
| Epidermolysis bullosa simplex associated with late-onset muscular dystrophy (5.14, 1.34, 11.22) | ||
| episodic ataxia type 5, included (13.32) | ||
| episodic ataxia type 6 (13.33) | ||
| episodic ataxia type-3 (13.31) | ? - (1q42) | |
| episodic ataxia type-7 (13.34) | ? - (19q13) | |
| Episodic ataxia with myokymia (7.12, 13.29) | ||
| Episodic ataxia, type 2 (7.9, 13.6, 13.35, 7.10, 13.30) | ||
| episodic muscle weakness, x-linked (5.21) | ? - (Xp22.3) | |
| Escobar syndrome (multiple pterygium syndrome) (11.21) | ||
| Exertional myoglobinuria due to deficiency of LDH-A (9.13) |