|
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 |
|
Elsahy-Waters Syndrome |
brachioskeletogenital syndrome, BSG syndrome, ESWS |
CDH11 |
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, Early-Onset, wtih Brain Atrophy and Spasticity |
PABAS |
TRAPPC12 |
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 |
|
Epileptic Encephalopathy, Early Infantile 58 |
EIEE58 |
NTRK2 |
autosomal dominant |
|
Epileptic Encephalopathy, Infantile or Early Childhood 2 |
IECEE2 |
GABRB2 |
autosomal dominant |
|
Exfoliation Glaucoma |
exfoliation syndrome, PEX, pseudoexfoliation syndrome, XFG, XFS |
LOXL1 |
autosomal dominant? |
|
External Ophthalmoplegia, ANT1 and mtDNA Mutations |
autosomal dominant progressive external ophthalmoplegia, PEOA2 |
mitochondria, SLC25A4 |
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 |
