| Syndrome |
Gene |
Chromosome |
Location |
Category |
| EARLY GROWTH RESPONSE 2 | EGR2 | 10 | q21.3 | Autism spectrum | |
| Early-onset androgenetic alopecia | AUTS2 | 7 | q11.22 | Alopecia | |
| EB-PA Epidermolysis bullosa with pyloric atresia | ITGA6 | 2 | q31.1 | Alopecia | |
| EB-PA Epidermolysis bullosa with pyloric atresia | ITGB4 | 17 | q25.1 | Alopecia | |
| EB-PA Epidermolysis bullosa with pyloric atresia | PLEC | 8 | q24.3 | Alopecia | |
| ECCL Encephalocraniocutaneous lipomatosis | FGFR1 | 8 | p11.23 | Alopecia | |
| Ectopia lentis | ADAMTSL4 | 1 | q21.2 | Cataracts | |
| ELONGATOR ACETYLTRANSFERASE COMPLEX SUBUNIT 4 | ELP4 | 11 | p13 | Autism spectrum | |
| Emanuel syndrome | (der 11) | 22 | extra | Cleft lip / cleft palate | |
| Emanuel syndrome | (der 22) | 11 | extra | Cleft lip / cleft palate | |
| Emery-Dreifuss muscular dystrophy | EMD | 23 | q28 | Bradycardia (<60 beats/minute) | |
| Emery-Dreifuss muscular dystrophy | LMNA | 1 | q22 | Bradycardia (<60 beats/minute) | |
| Epilepsy childhood absence 5 (ECA5) | GABRB3 | 15 | q12 | Autism spectrum | |
| Epilepsy early-onset vitamin B6-dependent | PLPBP | 8 | p11.23 | Epilepsy and seizures | |
| Epilepsy familial focal with variable foci (FFEVF) | DEPDC5 | 22 | q12.3 | Autism spectrum | |
| EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 1 | FFEVF1 | 22 | Q12.2-3 | Autism spectrum | |
| EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 3 | FFEVF3 | 16 | p13.3 | Autism spectrum | |
| EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 4 | FFEVF4 | 2 | q24.3 | Autism spectrum | |
| EPILEPSY FOCAL WITH SPEECH DISORDER | GRIN2A | 16 | p13 | Autism spectrum | |
| Epilepsy hearing loss and mental retardation syndrome | SPATA5 | 4 | q28.1 | Epilepsy and seizures | |
| EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 15 | EIG15 | 9 | q21.13 | Autism spectrum | |
| EPILEPSY X_LINKED WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS | SYN1 | 23 | p11.3 | Autism spectrum | |
| EPILEPTIC ENCEPHALOPATHY CHILDHOOD-ONSET | EEOC | 15 | q26.1 | Autism spectrum | |
| EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 1 | EIEE1 | 23 | p21.3 | Autism spectrum | |
| EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 11 | EIEE11 | 2 | q24.3 | Autism spectrum | |
| EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 13 | EIEE13 | 12 | q13.13 | Autism spectrum | |
| EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 2 | EIEE2 | 23 | p22.13 | Autism spectrum | |
| EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 24 | EIEE24 | 5 | p12 | Autism spectrum | |
| Epileptic encephalopathy early infantile 24 (EIEE24) | CHD2 | 15 | q26.1 | Autism spectrum | |
| Epileptic encephalopathy early infantile 24 (EIEE24) | HCN1 | 5 | p12 | Autism spectrum | |
| Epileptic encephalopathy early infantile 26 | KCNB1 | 20 | q13.13 | Epilepsy and seizures | |
| EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 27 | EIEE27 | 12 | p13.1 | Autism spectrum | |
| Epileptic encephalopathy early infantile 29 (EIEE29) | AARS | 16 | q22.1 | Autism spectrum | |
| EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 30 | EIEE30 | 21 | q22.3 | Autism spectrum | |
| EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 33 | EIEE33 | 20 | q13.33 | Autism spectrum | |
| EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 42 | EIEE42 | 19 | p13.13 | Autism spectrum | |
| EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 46 | EIEE46 | 19 | q13.33 | Autism spectrum | |
| EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 47 | EIEE47 | 3 | q28-q29 | Autism spectrum | |
| EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 54 | EIEE54 | 1 | q44 | Autism spectrum | |
| Epileptic encephalopathy early infantile 54 (EIEE54) | HNRNPU | 1 | q44 | Epilepsy and seizures | |
| EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 56 | EIEE56 | 7 | q11.23 | Autism spectrum | |
| EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 58 | EIEE58 | 9 | q21.33 | Autism spectrum | |
| EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 59 | EIEE59 | 9 | q22.33 | Autism spectrum | |
| EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 6 | EIEE6 | 2 | q24.3 | Autism spectrum | |
| EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 66 | EIEE66 | 14 | q32.33 | Autism spectrum | |
| EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 67 | EIEE67 | 12 | q24.11-12 | Autism spectrum | |
| EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 70 | EIEE70 | 6 | p24.1 | Autism spectrum | |
| EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 9 | EIEE9 | 23 | q22.1 | Autism spectrum | |
| Epileptic encephalopathy early infantile 9 (EIEE9) | PCDH19 | 23 | q22.1 | Autism spectrum | |
| EPILEPTIC ENCEPHALOPATHY INFANTILE OR EARLY CHILDHOOD 1 | IECEE1 | 4 | q24 | Autism spectrum | |
| Episodic ataxia | CACNA1A | 19 | p13.13 | Ataxia spectrum | |
| Episodic ataxia | CACNB4 | 2 | q23.3 | Ataxia spectrum | |
| Episodic ataxia | KCNA1 | 12 | p13.32 | Ataxia spectrum | |
| Episodic ataxia | SLC1A3 | 5 | p13.2 | Ataxia spectrum | |
| Epsilon-trimethyllysine hydroxylase deficiency | TMLHE | 23 | q28 | Autism spectrum | |
| EUKARYOTIC TRANSLATION ELONGATION FACTOR 1 ALPHA-2 | EEF1A2 | 20 | q13.33 | Autism spectrum | |
| Eukaryotic translation error syndrome | EIF4E | 4 | q23 | Autism spectrum | |
| EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 2 | EIF4EBP2 | 10 | q22.1 | Autism spectrum | |