Disorders: E

Disorders Alternate Names Genes Inheritance Pattern
Ectopia Lentis et Pupillae ADAMTSL4 autosomal recessive
Ectopia lentis, Isolated AD FBN1 autosomal dominant
Ectopia lentis, Isolated AR ADAMTSL4 autosomal recessive
EDICT Syndrome endothelial dystrophy iris hypoplasia congenital cataract and stromal thinning syndrome, familial keratoconus with early-onset anterior polar cataract, keratoconus with cataract, KTCNCT MIR184 autosomal dominant
EEM Syndrome ectodermal dysplasia, ectrodactyly and macular dystrophy CDH3 autosomal recessive
Ehlers-Danlos Syndrome, Type VIA EDS VIA, EDS6A, oculoscoliotic type Ehlers-Danlos syndrome PLOD1 autosomal recessive
Encephalocraniocutaneous lipomatosis ECCL FGFR1 autosomal dominant?
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 EMPF2 MFF autosomal recessive
Encephalopathy, Early-Onset, With Brain Atrophy and Thin Corpus Callosum PEBAT TBCD autosomal recessive
Encephalopathy, Progressive with Amyotrophy and Optic Atrophy PEAMO TBCE autosomal recessive
Epileptic Encephalopathy, Early Infantile 28 EIEE28 WWOX autosomal recessive
Epileptic Encephalopathy, Early Infantile 47 EIEE47 FGF12 autosomal dominant?
Epileptic Encephalopathy, Early Infantile 48 EIEE48 AP3B2 autosomal recessive
Exfoliation Glaucoma exfoliation syndrome, PEX, pseudoexfoliation syndrome, XFG, XFS LOXL1 autosomal dominant?
External Ophthalmoplegia with Progressive Scoliosis HGPPS, horizontal gaze palsy with progressive scoliosis ROBO3 autosomal recessive
External Ophthalmoplegia, ANT1 and mtDNA Mutations autosomal dominant progressive external ophthalmoplegia, PEOA2 ANT1, mitochondria, SLC25A3 autosomal dominant
External Ophthalmoplegia, C10ORF2 and mtDNA Mutations PEOA3 C10ORF2, mitochondria autosomal dominant
External Ophthalmoplegia, Facial Weakness, and Malignant Hyperthermia King syndrome, King-Denborough syndrome, MHS1, susceptibility to malignant hyperthermia 1 RYR1 autosomal dominant, autosomal recessive
External Ophthalmoplegia, POLG and mtDNA Mutations ocular myopathy with hypogonadism, PEOA1, PEOB mitochondria, POLG autosomal dominant, autosomal recessive
External Ophthalmoplegia, Progressive, with mtDNA Deletions, AR 3 PEOB3, Progressive External Ophthalmoplegia Autosomal Recessive 3 TK2 autosomal recessive
External Ophthalmoplegia, Progressive, with mtDNA Deletions, AR 4 PEOB4, progressive external ophthalmoplegia autosomal recessive 4 DGUOK autosomal recessive
Eye Movement Disorders with CACNA1A Mutations CACNA1A autosomal dominant