| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
| Hyperinsulinism Due To Insr Deficiency |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... |
ORPHA:263458 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy |
OMIM:121900 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemia |
OMIM:610021 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypochloremia, Increased circulating renin level, Hypokalemia |
OMIM:300971 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Cataract 47 |
|
Cataract, Microcornea, Glycosuria |
OMIM:612018 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, T... |
ORPHA:79299 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia |
OMIM:240600 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Cataract, Corneal arcus |
OMIM:618463 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:214700 |
| Cataract-Microcornea Syndrome |
|
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea |
ORPHA:1377 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Cataract |
OMIM:618660 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypochloremia, Hyperchloriduria, Hypokalemia |
OMIM:613090 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Decreased circulating renin level, Hyperkalemia |
OMIM:614492 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Hypoglycemia |
OMIM:232700 |
| Megalocornea |
|
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... |
OMIM:309300 |
| Hyperferritinemia With Or Without Cataract |
|
Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... |
OMIM:177650 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... |
OMIM:617319 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Abnormal transferrin saturation, Increased circulating ferritin concentration, Elevated... |
ORPHA:254704 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia |
ORPHA:446 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypochloremia, Hyperchloriduria, Hypokalemia |
OMIM:602522 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hypochloremia, Hyperchloriduria, Increased circulating renin level, Hypokalemia, Increased serum ... |
OMIM:601678 |
| Cataract 10, Multiple Types |
|
Zonular cataract, Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Increased C-peptide level, Hypoglycemic seizures, Hyperinsulinemia, Hypercholeste... |
OMIM:620211 |
| Cataract 1, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract |
OMIM:116200 |
| Bartter Syndrome Type 4 |
|
Hypochloremia, Increased circulating renin level, Hypokalemia, Hyponatremia, Hypomagnesemia |
ORPHA:89938 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hypochloremia, Hyperchloriduria, Increased circulating renin level, Hypokalemia, Increased serum ... |
OMIM:241200 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hyperammonemia, Hypoglycemia, Abnormal circulating leucine concentration |
ORPHA:6 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
| Aniridia 2 |
|
Cataract, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Elevated circulating fumarate concentration, Hyperalaninemia, Elevated circulatin... |
OMIM:615160 |
| Cataract 3, Multiple Types |
|
Cerulean cataract, Sutural cataract, Developmental cataract, Nuclear pulverulent cataract |
OMIM:601547 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... |
OMIM:269400 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Neonatal hypoglycemia, Hypochloremia, Hyponatremia, Hyperkalemia |
ORPHA:90794 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination... |
OMIM:225200 |
| Galactokinase Deficiency |
|
Cataract, Hypergalactosemia, Increased level of galactitol in plasma, Hyperinsulinemia, Nuclear c... |
ORPHA:79237 |
| Propionic Acidemia |
|
Hyperammonemia, Hypoglycemia |
ORPHA:35 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Hypoglycemia |
ORPHA:664 |
| Cataract 5, Multiple Types |
|
Zonular cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
| Hemochromatosis, Neonatal |
|
Abnormality of iron homeostasis, Increased serum iron, Increased circulating ferritin concentrati... |
OMIM:231100 |
| Cataract 20, Multiple Types |
|
Membranous cataract, Cortical cataract, Sutural cataract, Lamellar cataract |
OMIM:116100 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... |
OMIM:262190 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia, Hypoglycemia |
OMIM:306000 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... |
ORPHA:67043 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... |
OMIM:610256 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hypoglycemia, Hyperkalemia |
OMIM:240200 |
| Cataract 39, Multiple Types |
|
Developmental cataract, Anterior polar cataract, Lamellar cataract |
OMIM:615188 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Cataract 31, Multiple Types |
|
Nuclear cataract, Anterior subcapsular cataract, Posterior subcapsular cataract |
OMIM:605387 |
| Cataract 33, Multiple Types |
|
Nuclear cataract, Cortical cataract, Lamellar cataract |
OMIM:611391 |
| Cataract 15, Multiple Types |
|
Nuclear cataract, Cortical cataract, Lamellar cataract |
OMIM:615274 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Glycosuria, Hypouricemia, Diabetes mellitus, Hypoglycemia |
OMIM:616026 |
