Clinical Disorder Search
Alphabetical List Grouped by Letter
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Ectopia Lentis et Pupillae | ADAMTSL4 | 225200 | autosomal recessive | |
| Ectopia lentis, Isolated AD | FBN1 | 129600 | autosomal dominant | |
| Ectopia lentis, Isolated AR | ADAMTSL4 | 225100 | autosomal recessive | |
| EDICT Syndrome | MIR184 | KTCNCT, keratoconus with cataract, familial keratoconus with early-onset anterior polar cataract, endothelial dystrophy iris hypoplasia congenital cataract and stromal thinning syndrome | 614303 | autosomal dominant |
| EEM Syndrome | CDH3 | ectodermal dysplasia, ectrodactyly and macular dystrophy | 225280 | autosomal recessive |
| Ehlers-Danlos Syndrome, Type VIA | PLOD1 | oculoscoliotic type Ehlers-Danlos syndrome, EDS VIA, EDS6A | 225400 | autosomal recessive |
| Elsahy-Waters Syndrome | CDH11 | ESWS, brachioskeletogenital syndrome, BSG syndrome | 211380 | autosomal recessive |
| Encephalocraniocutaneous Lipomatosis | FGFR1 | ECCL | 613001 | autosomal dominant? |
| Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 | MFF | EMPF2 | 617086 | autosomal recessive |
| Encephalopathy, Early-Onset, With Brain Atrophy and Thin Corpus Callosum | TBCD | PEBAT | 617193 | autosomal recessive |
| Encephalopathy, Progressive, Early-Onset, wtih Brain Atrophy and Spasticity | TRAPPC12 | PABAS | 617669 | autosomal recessive |
| Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy | TBCE | PEAMO | 617207 | autosomal recessive |
| Epileptic Encephalopathy, Early Infantile 28 | WWOX | EIEE28 | 616211 | autosomal recessive |
| Epileptic Encephalopathy, Early Infantile 47 | FGF12 | EIEE47 | 617166 | autosomal dominant? |
| Epileptic Encephalopathy, Early Infantile 48 | AP3B2 | EIEE48 | 617276 | autosomal recessive |
| Epileptic Encephalopathy, Early Infantile 58 | NTRK2 | EIEE58 | 617830 | autosomal dominant |
| Epileptic Encephalopathy, Infantile or Early Childhood 2 | GABRB2 | IECEE2 | 617829 | autosomal dominant |
| Exfoliation Glaucoma | LOXL1 | exfoliation syndrome, XFG, PEX, pseudoexfoliation syndrome, XFS | 177650 | autosomal dominant? |
| External Ophthalmoplegia, ANT1 and mtDNA Mutations | mitochondria, SLC25A4 | PEOA2, autosomal dominant progressive external ophthalmoplegia | 609283 | autosomal dominant |
| External Ophthalmoplegia, C10ORF2 and mtDNA Mutations | mitochondria, C10ORF2 | PEOA3 | 609286 | autosomal dominant |
| External Ophthalmoplegia, Facial Weakness, and Malignant Hyperthermia | RYR1 | MHS1, susceptibility to malignant hyperthermia 1, King syndrome, King-Denborough syndrome | 145600 | autosomal recessive, autosomal dominant |
| External Ophthalmoplegia, POLG and mtDNA Mutations | POLG, mitochondria | PEOA1, PEOB, ocular myopathy with hypogonadism | 157640, 258450 | autosomal recessive, autosomal dominant |
| External Ophthalmoplegia, Progressive, with mtDNA Deletions, AR 3 | TK2 | PEOB3, Progressive External Ophthalmoplegia Autosomal Recessive 3 | 617069 | autosomal recessive |
| External Ophthalmoplegia, Progressive, with mtDNA Deletions, AR 4 | DGUOK | PEOB4, progressive external ophthalmoplegia autosomal recessive 4 | 617070 | autosomal recessive |
| Eye Movement Disorders with CACNA1A Mutations | CACNA1A | 601011 | autosomal dominant |