Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
Early onset axonal neuropathy with sensory ataxia (14.81) | ||
Early onset distal myopathy with KLHL9 mutations (4.21) | ||
Early-onset axonal Charcot-Marie-Tooth with ataxia (14.89, 14.97) | ||
Early-onset myofibrillar myopathy with PYRODX1 defect (5.9, 1.60, 3.59) | ||
Emery-Dreifuss Autosomal recessive (1.3, 1.4, 10.40, 2.17, 14.88) | 181350 | |
Emery-dreifuss muscular dystrophy 1 (1.2) | 310300 | |
Emery-dreifuss muscular dystrophy 4 (1.5, 13.68, 16.23, 10.93) | 612998 | |
Emery-dreifuss muscular dystrophy 6 (1.7, 5.31, 5.32, 5.33) | 300696 | |
Emery-dreifuss muscular dystrophy 7 (10.119, 1.8) | 614302 | |
Emery-Dreifuss muscular dystrophy, autosomal dominant (1.3, 1.4, 10.40, 2.17, 14.88) | 181350 | |
Endocardial fibroelastosis-2 (10.91, 10.103) | 300394 | |
Enolase deficiency (9.16) | 131370 | |
Epidermolysis bullosa simplex associated with late-onset muscular dystrophy (5.27, 1.35, 11.36, 1.59) | 226670 | |
episodic ataxia type 5, included (13.50) | 601949 | |
episodic ataxia type 6 (13.51) | 612656 | |
episodic ataxia type-3 (13.49) | 606554 | ? - (1q42) |
episodic ataxia type-7 (13.52) | 611907 | ? - (19q13) |
Episodic ataxia type-9 (13.53) | ||
Episodic ataxia with myokymia (7.12) | 160120 | |
Episodic ataxia, type 2 (7.9, 13.6, 13.54, 7.10, 13.48) | 108500 | |
episodic muscle weakness, x-linked (5.34) | 300211 | ? - (Xp22.3) |
Episodic pain syndrome, familial 3 (14.116, 14.126) | 615552 | |
Erythrocyte lactate transporter defect (9.17) | 245340 | |
Erythromelalgia, Primary (14.111, 14.125) | 133020 | |
Escobar syndrome (multiple pterygium syndrome) (11.35) | 265000 | |
Exertional myoglobinuria due to deficiency of LDH-A (9.15) | 150000 |