| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly |
ORPHA:33402 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
| Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neo... |
OMIM:231100 |
| Microphthalmia/Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Pancreatic Cancer, Susceptibility To, 5 |
|
Pancreatic adenocarcinoma, Melanoma |
OMIM:618680 |
| Gombo Syndrome |
|
Delayed puberty, Microphthalmia |
OMIM:233270 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... |
ORPHA:79299 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Microphthalmia, Syndromic 12 |
|
Neonatal death, Anophthalmia, Microphthalmia |
OMIM:615524 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... |
OMIM:606719 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Congenital Varicella Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:291 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Microphthalmia/Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy, Hypoglycemia |
OMIM:609016 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:616570 |
| Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... |
ORPHA:75376 |
| Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Anophthalmia, Microphthalmia |
OMIM:164180 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia |
OMIM:609054 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis |
OMIM:231530 |
| Microphthalmia, Isolated 8 |
|
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:615113 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Meckel Syndrome, Type 8 |
|
Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia |
OMIM:613885 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia |
OMIM:232700 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Neonatal Hemochromatosis |
|
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentration |
ORPHA:446 |
| Microphthalmia/Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... |
ORPHA:443167 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Short stature, Growth delay, Microphthalmia |
ORPHA:2528 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
| Microphthalmia/Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... |
OMIM:251880 |
| Li-Fraumeni Syndrome |
|
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... |
OMIM:151623 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:278780 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... |
OMIM:620211 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Carcinoid Syndrome |
|
Hepatic necrosis, Elevated circulating hepatic transaminase concentration |
ORPHA:100093 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Short stature, Intrauterine growth retardation, Microphthalmia |
OMIM:616171 |
| Leigh Syndrome, Nuclear |
|
Hepatocellular necrosis |
OMIM:256000 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
| Cat-Eye Syndrome |
|
Short stature, Intrauterine growth retardation, Microphthalmia |
ORPHA:195 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Papilledema, Hyperkalemia |
OMIM:620366 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Hepatocellular necrosis |
OMIM:201475 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Biemond Syndrome Type 2 |
|
Short stature, Delayed puberty, Microphthalmia |
ORPHA:141333 |
| Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
| Cofs Syndrome |
|
Short stature, Intrauterine growth retardation, Microphthalmia |
ORPHA:1466 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Anophthalmia |
ORPHA:1104 |
| Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia |
OMIM:218670 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... |
OMIM:241150 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Intrauterine growth retardation, Anophthalmia, Microphthalmia |
ORPHA:3378 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Matthew-Wood Syndrome |
|
Intrauterine growth retardation, Anophthalmia, Microphthalmia |
ORPHA:2470 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Microphthalmia |
OMIM:274270 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic periportal necrosis, Hepatic steatosis, Neonatal death, Hepatomegaly, Jaundice |
OMIM:231680 |
| Fanconi Anemia, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:614082 |
| Microphthalmia, Syndromic 13 |
|
Short stature, Microphthalmia |
OMIM:300915 |
| Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Short stature, Microphthalmia |
OMIM:610023 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Frontal encephalocele, Microphthalmia |
ORPHA:1528 |
| Microphthalmia, Syndromic 5 |
|
Short stature, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:610125 |
| Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase, Postprandial hyperglycemia |
ORPHA:681 |
| Lynch Syndrome 5 |
|
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... |
OMIM:614350 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatic failure, Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis, Acute hepatic fail... |
OMIM:256810 |
| Hydrolethalus |
|
Anencephaly, Anophthalmia, Microphthalmia |
ORPHA:2189 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration |
ORPHA:6 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:618528 |
| Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Solitary Median Maxillary Central Incisor |
|
Short stature, Anophthalmia, Microphthalmia |
OMIM:147250 |
| 2Q24 Microdeletion Syndrome |
|
Growth delay, Microphthalmia |
ORPHA:1617 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Hepatic necrosis, Hepatic steatosis, Elevated circulating hepatic transami... |
ORPHA:71212 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level |
OMIM:218030 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Growth delay, Anophthalmia, Microphthalmia |
ORPHA:77298 |
| Hartsfield Syndrome |
|
Intrauterine growth retardation, Encephalocele, Microphthalmia |
ORPHA:2117 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level |
OMIM:601198 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Microphthalmia |
ORPHA:324416 |
| Joubert Syndrome 22 |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:615665 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:57 |
| Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia |
ORPHA:90322 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Microphthalmia With Limb Anomalies |
|
Postnatal growth retardation, Growth delay, Anophthalmia, Microphthalmia |
OMIM:206920 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Intrauterine growth retardation, Microphthalmia |
ORPHA:48431 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
| Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:858 |
| Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microphthalmia |
ORPHA:139471 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic peripo... |
ORPHA:26791 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Propionic Acidemia |
|
Hyperammonemia, Hypoglycemia |
ORPHA:35 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
| Mody |
|
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... |
ORPHA:552 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Hypoglycemia |
ORPHA:664 |
| Bresek Syndrome |
|
Intrauterine growth retardation, Neonatal death, Microphthalmia, Growth delay, Optic nerve hypopl... |
ORPHA:85284 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Short stature, Microphthalmia |
OMIM:251270 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Microphthalmia, Syndromic 9 |
|
Severe short stature, Bilateral microphthalmos, Intrauterine growth retardation, Anophthalmia, Ne... |
OMIM:601186 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
| Birk-Landau-Perez Syndrome |
|
Optic atrophy, Increased circulating creatine kinase MB isoform, Hyperkalemia |
OMIM:617595 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Intrauterine growth retardation, Growth delay, Microphthalmia |
OMIM:610756 |
| Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Cirrhosis, Hepatic necrosis |
OMIM:127550 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Short stature, Intrauterine growth retardation, Rhizomelia, Microphthalmia |
OMIM:300863 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
| Congenital Rubella Syndrome |
|
Short stature, Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:290 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
| Meckel Syndrome, Type 2 |
|
Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly |
OMIM:603194 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Microphthalmia |
OMIM:613730 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Neonatal hypoglycemia, Increased circulating renin level |
ORPHA:90791 |
| Warburg Micro Syndrome 1 |
|
Short stature, Microphthalmia |
OMIM:600118 |
| Lissencephaly 8 |
|
Occipital encephalocele, Microphthalmia |
OMIM:617255 |
| Vacterl With Hydrocephalus |
|
Intrauterine growth retardation, Spina bifida, Anophthalmia, Microphthalmia |
ORPHA:3412 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hypoglycemic seizures, Ketotic hypoglycemia, Hyperkalemia |
ORPHA:361 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
| Pierpont Syndrome |
|
Short stature, Microphthalmia |
OMIM:602342 |
| Walker-Warburg Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:899 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:1438 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
| Trisomy 1Q |
|
Anophthalmia |
ORPHA:261344 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Postprandial hyperglycemia, Hypomagnesemia, Transient hypophosphatemia, Hyp... |
ORPHA:79102 |
| Developmental And Epileptic Encephalopathy 1 |
|
Growth delay, Microphthalmia |
OMIM:308350 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short stature, Microphthalmia |
OMIM:300887 |
| Mirage Syndrome |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:617053 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Short stature, Unilateral microphthalmos, Bilateral microphthalmos |
OMIM:619318 |
| Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Rhizomelia, Anophthalmia, Microphthalmia |
OMIM:615877 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Seckel Syndrome 2 |
|
Short stature, Growth delay, Microphthalmia |
OMIM:606744 |
| Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly |
OMIM:611134 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short stature, Intrauterine growth retardation, Rhizomelia, Microphthalmia |
ORPHA:163966 |
| Acute Adrenal Insufficiency |
|
Hypoglycemia, Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating ren... |
ORPHA:95409 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
ORPHA:90790 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia, Glycosuria |
ORPHA:97362 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Baraitser-Winter Syndrome 2 |
|
Short stature, Microphthalmia |
OMIM:614583 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Microphthalmia |
ORPHA:93267 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Short stature, Optic nerve hypoplasia, Mild short stature, Microphthalmia |
OMIM:614833 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Acute Liver Failure |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa... |
ORPHA:90062 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Postnatal growth retardation, Anophthalmia, Microphthalmia, Short stature, O... |
OMIM:206900 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
| Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:615181 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... |
ORPHA:94093 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
| Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia |
OMIM:136760 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Anophthalmia, Umbilical hernia |
ORPHA:1101 |
| Spondylo-Ocular Syndrome |
|
Short stature, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of the lens, Microp... |
ORPHA:85194 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris |
OMIM:604229 |
| Cockayne Syndrome Type 1 |
|
Postnatal growth retardation, Anophthalmia |
ORPHA:90321 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Reduced circulating cortisol-binding globulin concentration |
OMIM:611489 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Short stature, Microphthalmia |
ORPHA:2788 |
| Pelvis-Shoulder Dysplasia |
|
Short stature, Spina bifida occulta, Microphthalmia |
OMIM:169550 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Microphthalmia |
OMIM:601794 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Intrauterine growth retardation, Encephalocele, Microphthalmia |
ORPHA:228390 |
| Cystinosis |
|
Hypokalemia, Type I diabetes mellitus, Hypophosphatemia, Retinopathy |
ORPHA:213 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
| Addison Disease |
|
Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia,... |
ORPHA:85138 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
| Sandestig-Stefanova Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:618804 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
| Rodrigues Blindness |
|
Short stature, Microphthalmia |
OMIM:268320 |
| Cerebrooculonasal Syndrome |
|
Postnatal growth retardation, Encephalocele, Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
| Oculopalatocerebral Syndrome |
|
Short stature, Microphthalmia |
OMIM:257910 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Fibular Hemimelia |
|
Spina bifida, Anophthalmia |
ORPHA:93323 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hepatosplenomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis |
OMIM:618278 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Short stature, Microphthalmia |
ORPHA:3191 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:214700 |
| Fetal Alcohol Syndrome |
|
Short stature, Intrauterine growth retardation, Microphthalmia |
ORPHA:1915 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Rere-Related Neurodevelopmental Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia |
ORPHA:494344 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyperkalemia, Abnormal circulating cholesterol concentration, Hyponatremia, Neonatal hypoglycemia... |
ORPHA:168558 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Holoprosencephaly |
|
Spinal dysraphism, Branchial anomaly, Encephalocele, Anophthalmia, Microphthalmia |
ORPHA:2162 |
| Trichothiodystrophy 3, Photosensitive |
|
Short stature, Intrauterine growth retardation, Microphthalmia |
OMIM:616395 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level |
ORPHA:320 |
| Congenital Primary Aphakia |
|
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... |
ORPHA:83461 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyperkalemia, Abnormal circulating cholesterol concentration, Hyponatremia, Neonatal hypoglycemia... |
ORPHA:289548 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Postprandial hyperglycemia, Glycosuria, Hyperbilirubinemia, Increased serum bile ac... |
OMIM:227810 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia, Glycosuria |
OMIM:134600 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Abnormal choroid morphology, Hypokalemia, Abnormal retinal vascular morphology,... |
OMIM:607364 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2250 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus |
OMIM:616026 |
| Autosomal Dominant Keratitis |
|
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... |
ORPHA:2334 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia |
ORPHA:2728 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia |
OMIM:609053 |
| Joubert Syndrome 37 |
|
Short stature, Microphthalmia |
OMIM:619185 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:618914 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
| 14Q22Q23 Microdeletion Syndrome |
|
Short stature, Anophthalmia, Optic nerve aplasia |
ORPHA:264200 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Growth delay, Anophthalmia, Microphthalmia |
ORPHA:2538 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
| Monosomy 18P |
|
Short stature, Microphthalmia |
ORPHA:1598 |
| Joubert Syndrome 21 |
|
Occipital encephalocele, Encephalocele, Anophthalmia |
OMIM:615636 |
| Frontofacionasal Dysplasia |
|
Short stature, Encephalocele, Microphthalmia |
ORPHA:1791 |
| Garg-Mishra Progeroid Syndrome |
|
Short stature, Postnatal growth retardation, Microphthalmia |
OMIM:620601 |
| Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
| Meckel Syndrome |
|
Aplasia/Hypoplasia of the iris, Encephalocele, Anophthalmia, Microphthalmia, Anencephaly |
ORPHA:564 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia |
OMIM:214150 |
| Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Growth delay, Microphthalmia |
OMIM:120200 |
| Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
| Baraitser-Winter Syndrome 1 |
|
Short stature, Postnatal growth retardation, Microphthalmia |
OMIM:243310 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
| Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... |
ORPHA:769 |
| Fanconi Anemia, Complementation Group S |
|
Short stature, Microphthalmia |
OMIM:617883 |
| Anterior Segment Dysgenesis 2 |
|
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia |
OMIM:610256 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:1352 |
| East Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:199343 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic nerve hypoplasia, Occipital encephalocele, Microphthalmia |
ORPHA:370959 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Conjugated hyperbilirubinemia |
OMIM:608885 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Postnatal growth retardation, Severe intrauterine growth retardation |
OMIM:241410 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Gracile Bone Dysplasia |
|
Short stature, Aniridia, Microphthalmia |
OMIM:602361 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Severe short stature, Anophthalmia, Microphthalmia |
ORPHA:2526 |
| Microcephaly-Micromelia Syndrome |
|
Neonatal death, Intrauterine growth retardation, Microphthalmia |
OMIM:251230 |
| Fanconi Anemia, Complementation Group R |
|
Growth delay, Microphthalmia |
OMIM:617244 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
| Micro Syndrome |
|
Short stature, Intrauterine growth retardation, Delayed puberty, Microphthalmia |
ORPHA:2510 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia |
OMIM:613239 |
| Marden-Walker Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia |
OMIM:248700 |
| Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Short stature, Intrauterine growth retardation, Bilateral microphthalmos |
OMIM:610758 |
| Warburg Micro Syndrome 4 |
|
Short stature, Severe postnatal growth retardation, Microphthalmia |
OMIM:615663 |
| Cholera |
|
Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration |
ORPHA:173 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Short stature, Microphthalmia |
OMIM:617306 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Microphthalmia |
OMIM:615249 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Microphthalmia |
OMIM:301108 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
| Charge Syndrome |
|
Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Anophthalmia, De... |
ORPHA:138 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
| Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Short stature, Microphthalmia, Umbilical hernia |
ORPHA:2505 |
| Joubert Syndrome 14 |
|
Meningocele, Growth delay, Encephalocele, Microphthalmia |
OMIM:614424 |
| Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Severe short stature, Growth delay, Anophthalmia, Microphthalmia |
ORPHA:2556 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
| Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Severe postnatal growth retardation, Bilateral microphthalmos, Microphthalmia |
ORPHA:2399 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
| Holoprosencephaly 9 |
|
Anophthalmia, Microphthalmia, Short stature, Occipital meningocele, Optic nerve hypoplasia |
OMIM:610829 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Short stature, Bilateral microphthalmos, Umbilical hernia |
ORPHA:369891 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia |
OMIM:611590 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
| Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
| Microphthalmia, Syndromic 2 |
|
Umbilical hernia, Anophthalmia, Phthisis bulbi, Microphthalmia, Short stature |
OMIM:300166 |
| Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
| Oculo-Palato-Cerebral Syndrome |
|
Short stature, Intrauterine growth retardation, Microphthalmia |
ORPHA:2714 |
| Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231580 |
| Heart And Brain Malformation Syndrome |
|
Growth delay, Microphthalmia |
OMIM:616920 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Diabetes mellitus, Hypocalcemia |
ORPHA:544482 |
| Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
| Kapur-Toriello Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:244300 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
| Familial Hyperaldosteronism Type I |
|
Hypokalemia |
ORPHA:403 |
| Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy, Glycosuria, Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration |
ORPHA:411629 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Short stature, Microphthalmia |
ORPHA:1806 |
| Warburg Micro Syndrome 3 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:614222 |
| Otodental Syndrome |
|
Lens coloboma, Microphthalmia |
ORPHA:2791 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:275761 |
| Ritscher-Schinzel Syndrome 3 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:619135 |
| Fraser Syndrome 1 |
|
Myelomeningocele, Bilateral microphthalmos, Encephalocele, Anophthalmia |
OMIM:219000 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Microphthalmia |
OMIM:234050 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
| Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia, Glucose intolerance, Impaired glucose tolerance |
OMIM:219090 |
| Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
| Frontorhiny |
|
Basal encephalocele, Cranium bifidum occultum, Encephalocele, Microphthalmia |
ORPHA:391474 |
| Focal Dermal Hypoplasia |
|
Umbilical hernia, Myelomeningocele, Aniridia, Anophthalmia, Microphthalmia, Short stature, Spina ... |
OMIM:305600 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
| Frontonasal Dysplasia 2 |
|
Intrauterine growth retardation, Encephalocele, Microphthalmia |
OMIM:613451 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia |
ORPHA:335 |
| Fanconi Anemia, Complementation Group F |
|
Short stature, Intrauterine growth retardation, Microphthalmia |
OMIM:603467 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231625 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Short stature, Severe postnatal growth retardation, Microphthalmia |
ORPHA:35173 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Short stature, Microphthalmia |
OMIM:618571 |
| Microphthalmia/Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Short stature, Microphthalmia |
OMIM:612530 |
| Proboscis Lateralis |
|
Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
ORPHA:141099 |
| Warburg Micro Syndrome 2 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:614225 |
| Galloway-Mowat Syndrome 3 |
|
Short stature, Intrauterine growth retardation, Microphthalmia |
OMIM:617729 |
| Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
| Microphthalmia With Limb Anomalies |
|
Short stature, True anophthalmia, Microphthalmia |
ORPHA:1106 |
| Cohen Syndrome |
|
Short stature, Intrauterine growth retardation, Delayed puberty, Microphthalmia |
ORPHA:193 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Hypophosph... |
ORPHA:3337 |
| Familial Hyperaldosteronism Type Iii |
|
Hypokalemia |
ORPHA:251274 |
| Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia |
ORPHA:340 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Short stature, Anencephaly, Encephalocele, Microphthalmia |
OMIM:619148 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia |
OMIM:613090 |
| Fraser Syndrome |
|
Umbilical hernia, Myelomeningocele, Encephalocele, Anophthalmia, Microphthalmia |
ORPHA:2052 |
| Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
| Norrie Disease |
|
Hypoplasia of the iris, Buphthalmos, Microphthalmia |
OMIM:310600 |
| Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
| 3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Bilateral microphthalmos, Mesomelic/rhizomelic limb shortening, Neonatal short-t... |
ORPHA:2839 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... |
ORPHA:411634 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Short stature, Microphthalmia |
OMIM:610651 |
| 1Q21.1 Microdeletion Syndrome |
|
Short stature, Intrauterine growth retardation, Microphthalmia |
ORPHA:250989 |
| Adams-Oliver Syndrome |
|
Encephalocele, Microphthalmia |
ORPHA:974 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:612780 |
| Martsolf Syndrome 1 |
|
Short stature, Microphthalmia |
OMIM:212720 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Neonatal hypoglycemia, Hypochloremia |
ORPHA:90794 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Encephalocele, Microphthalmia |
OMIM:613150 |
| Galloway-Mowat Syndrome 1 |
|
Short stature, Hypoplasia of the iris, Intrauterine growth retardation, Microphthalmia |
OMIM:251300 |
| Mosaic Trisomy 9 |
|
Intrauterine growth retardation, Spina bifida, Microphthalmia |
ORPHA:99776 |
| Branchiooculofacial Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Branchial anomaly, Anophthalmia, M... |
OMIM:113620 |
| Cystinosis, Nephropathic |
|
Pigmentary retinopathy, Decreased circulating carnitine concentration, Retinal pigment epithelial... |
OMIM:219800 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Optic atrophy, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis |
OMIM:617913 |
| Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Postnatal growth retardation, Rhizomelia, Microphthalmia |
OMIM:302960 |
| Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Short stature, Microphthalmia |
OMIM:257850 |
| Trisomy 18 |
|
Growth delay, Intrauterine growth retardation, Spina bifida, Microphthalmia, Short stature, Anenc... |
ORPHA:3380 |
| Charge Syndrome |
|
Umbilical hernia, Postnatal growth retardation, Unilateral microphthalmos, Anophthalmia, Delayed ... |
OMIM:214800 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
| Fanconi Anemia, Complementation Group C |
|
Short stature, Intrauterine growth retardation, Microphthalmia |
OMIM:227645 |
| Microphthalmia, Lenz Type |
|
Short stature, Microphthalmia |
ORPHA:568 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Microphthalmia |
ORPHA:3301 |
| Adrenocortical Carcinoma |
|
Hypokalemia, Diabetes mellitus |
ORPHA:1501 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:364577 |
| Trichothiodystrophy 1, Photosensitive |
|
Short stature, Microphthalmia |
OMIM:601675 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Microphthalmia |
OMIM:253800 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
| Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemi... |
ORPHA:508 |
| Fanconi Anemia, Complementation Group N |
|
Postnatal growth retardation, Microphthalmia |
OMIM:610832 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Growth delay, Microphthalmia |
OMIM:614230 |
| Stromme Syndrome |
|
Optic nerve hypoplasia, Stillbirth, Microphthalmia |
OMIM:243605 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Encephalocele, Microphthalmia |
OMIM:614643 |
| Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia |
ORPHA:91495 |
| Joubert Syndrome 2 |
|
Encephalocele, Microphthalmia |
OMIM:608091 |
| Dubowitz Syndrome |
|
Hypoplasia of the iris, Postnatal growth retardation, Intrauterine growth retardation, Microphtha... |
OMIM:223370 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Stillbirth, Encephalocele, Microphthalmia |
OMIM:616300 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele, Microphthalmia |
OMIM:601707 |
| Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hypokalemia |
OMIM:174900 |
| Mercury Poisoning |
|
Hypokalemia |
ORPHA:330021 |
| Pallister-Hall Syndrome |
|
Intrauterine growth retardation, Neonatal death, Microphthalmia, Short stature, Growth delay |
OMIM:146510 |
| Oculoauricular Syndrome |
|
Macular hypoplasia, Phthisis bulbi, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microphthalmia |
OMIM:264480 |
| Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Phthisis bulbi, Buphthalmos, Microphthalmia |
OMIM:221900 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Microphthalmia |
OMIM:619879 |
| Fanconi Anemia, Complementation Group L |
|
Intrauterine growth retardation, Growth delay, Microphthalmia |
OMIM:614083 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia |
ORPHA:369929 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short stature, Postnatal growth retardation, Rhizomelia, Microphthalmia |
OMIM:608940 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
| Cousin Syndrome |
|
Hydranencephaly, Disproportionate short stature, Rhizomelia, Microphthalmia |
OMIM:260660 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Severe short stature, Rhizomelia, Microphthalmia |
ORPHA:85167 |
| Cat Eye Syndrome |
|
Short stature, Microphthalmia, Umbilical hernia |
OMIM:115470 |
| Jacobsen Syndrome |
|
Macular hypoplasia, Intrauterine growth retardation, Microphthalmia |
OMIM:147791 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Microphthalmia, Buphthalmos, Meningoencephalocele, Optic nerve hypoplasia |
OMIM:236670 |
| Gitelman Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:263800 |
| Nelson Syndrome |
|
Hypokalemia, Optic nerve compression, Type II diabetes mellitus |
ORPHA:199244 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Short stature, Unilateral microphthalmos |
OMIM:618874 |
| Papillorenal Syndrome |
|
Short stature, Microphthalmia |
OMIM:120330 |
| Duane-Radial Ray Syndrome |
|
Spina bifida occulta, Optic disc hypoplasia, Microphthalmia |
OMIM:607323 |
| Fanconi Anemia, Complementation Group E |
|
Short stature, Microphthalmia |
OMIM:600901 |
| Monosomy 13Q14 |
|
Short stature, Intrauterine growth retardation, Microphthalmia |
ORPHA:1587 |
| Focal Dermal Hypoplasia |
|
Microphthalmia, Hypoplasia of the iris, Spina bifida, Umbilical hernia |
ORPHA:2092 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Postnatal growth retardation, Intrauterine growth retardation, Short st... |
ORPHA:93325 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
| Gitelman Syndrome |
|
Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Hypomagnesemia, Glucose intoleranc... |
ORPHA:358 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Short stature, Intrauterine growth retardation, Growth delay, Microphthalmia |
ORPHA:1052 |
| Linear Nevus Sebaceus Syndrome |
|
Growth delay, Microphthalmia |
ORPHA:2612 |
| Fanconi Anemia, Complementation Group A |
|
Short stature, Microphthalmia |
OMIM:227650 |
| Momo Syndrome |
|
Short stature, Bilateral microphthalmos |
ORPHA:2563 |
| 8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... |
OMIM:601678 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Hypoglycemia, Decreased circulating renin level |
OMIM:201750 |
| Microphthalmia, Syndromic 6 |
|
Anophthalmia, Microphthalmia |
OMIM:607932 |
| Incontinentia Pigmenti |
|
Short stature, Spina bifida occulta, Microphthalmia, Umbilical hernia |
ORPHA:464 |
| Hallermann-Streiff Syndrome |
|
Microphthalmia, Spina bifida, Proportionate short stature |
OMIM:234100 |
| 3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
| Acrofrontofacionasal Dysostosis 1 |
|
Short stature, Microphthalmia |
OMIM:201180 |
| 2Q31.1 Microdeletion Syndrome |
|
Short stature, Microphthalmia |
ORPHA:251014 |
| Pearson Syndrome |
|
Pigmentary retinopathy, Glycosuria, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, ... |
ORPHA:699 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia, Hypoglycemia |
ORPHA:786 |
| Bartter Syndrome Type 4 |
|
Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
ORPHA:89938 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
| Teebi-Shaltout Syndrome |
|
Short stature, Microphthalmia |
OMIM:272950 |
| Mosaic Trisomy 1 |
|
Microphthalmia |
ORPHA:1692 |
| Phace Association |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:606519 |
| Kenny-Caffey Syndrome, Type 2 |
|
Severe short stature, Microphthalmia |
OMIM:127000 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
ORPHA:464738 |
| Osteootohepatoenteric Syndrome |
|
Hypokalemia, Increased serum bile acid concentration |
OMIM:619377 |
| Monosomy 9Q22.3 |
|
Microphthalmia, Umbilical hernia |
ORPHA:77301 |
| Incontinentia Pigmenti |
|
Short stature, Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe postnatal growth retardation, Intrauterine growth retardation, Microphthalmia |
OMIM:620005 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90795 |
| Cockayne Syndrome B |
|
Severe short stature, Hypoplasia of the iris, Postnatal growth retardation, Intrauterine growth r... |
OMIM:133540 |
| Fryns Syndrome |
|
Microphthalmia |
ORPHA:2059 |
| Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia, Encephalocele, Umbilical hernia |
ORPHA:2166 |
| Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia |
OMIM:601812 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Short stature, Intrauterine growth retardation, Microphthalmia |
OMIM:616975 |
| Pierson Syndrome |
|
Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro... |
OMIM:609049 |
| Basal Cell Nevus Syndrome 1 |
|
Spina bifida, Microphthalmia |
OMIM:109400 |
| Acro-Renal-Ocular Syndrome |
|
Postnatal growth retardation, Optic disc hypoplasia, Microphthalmia |
ORPHA:959 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Short stature, Optic nerve hypoplasia, Spina bifida, Microphthalmia |
ORPHA:508498 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Scorpion Envenomation |
|
Glycosuria, Hyperglycemia, Hypokalemia, Increased circulating creatine kinase MB isoform, Increas... |
ORPHA:466677 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... |
ORPHA:90038 |
| Roberts Syndrome |
|
Microphthalmia, Postnatal growth retardation, Severe intrauterine growth retardation |
ORPHA:3103 |
| Atelis Syndrome 2 |
|
Microphthalmia |
OMIM:620185 |
| Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Stillbirth, Small placenta, Intrauterine growth retardation, Short umbilical cor... |
OMIM:256520 |
| Myhre Syndrome |
|
Short stature, Intrauterine growth retardation, Birth length less than 3rd percentile, Microphtha... |
OMIM:139210 |
| Lymphedema-Distichiasis Syndrome |
|
Microphthalmia |
OMIM:153400 |
| Fanconi Anemia |
|
Umbilical hernia, Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Spina bifida, ... |
ORPHA:84 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
OMIM:202010 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia |
OMIM:602522 |
| Bartsocas-Papas Syndrome 1 |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:263650 |
| Hallermann-Streiff Syndrome |
|
Microphthalmia, Proportionate short stature |
ORPHA:2108 |
| Trichothiodystrophy |
|
Intrauterine growth retardation, Bilateral microphthalmos, Umbilical hernia |
ORPHA:33364 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90793 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:608670 |
| Mycophenolate Mofetil Embryopathy |
|
Microphthalmia |
ORPHA:268249 |
| Treacher-Collins Syndrome |
|
Branchial fistula, Encephalocele, Microphthalmia |
ORPHA:861 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia |
OMIM:170390 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Short stature, Microphthalmia |
OMIM:268400 |
| Aicardi Syndrome |
|
Postnatal growth retardation, Spina bifida, Microphthalmia |
OMIM:304050 |
| Fanconi Anemia, Complementation Group D2 |
|
Short stature, Microphthalmia |
OMIM:227646 |
| Craniofacial Microsomia 1 |
|
Branchial anomaly, Occipital encephalocele, Anophthalmia, Microphthalmia |
OMIM:164210 |
| Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Hypoglycemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hy... |
ORPHA:99826 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Microphthalmia |
OMIM:617925 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypochloremia, I... |
OMIM:241200 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Short stature, Microphthalmia |
OMIM:309801 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe short stature, Intrauterine growth retardation, Bilateral microphthalmos, Optic nerve hypo... |
ORPHA:468631 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Short stature, Intrauterine growth retardation, Branchial cyst, Microphthalmia |
OMIM:620186 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Short stature, Phthisis bulbi, Microphthalmia |
OMIM:259770 |
| Vipoma |
|
Hypokalemia, Hypercalcemia, Diabetes mellitus |
ORPHA:97282 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Aicardi Syndrome |
|
Delayed puberty, Microphthalmia |
ORPHA:50 |
| Mend Syndrome |
|
Short stature, Microphthalmia |
ORPHA:401973 |
| Holoprosencephaly 7 |
|
Occipital meningocele, Bilateral microphthalmos, Microphthalmia |
OMIM:610828 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Intrauterine growth retardation, Large placenta, Microphthalmia, Anencep... |
OMIM:249000 |
| Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Growth delay, Umbilical hernia |
OMIM:613884 |
| Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
| Histiocytoid Cardiomyopathy |
|
Congenital aphakia, Microphthalmia |
ORPHA:137675 |
| 22Q11.2 Deletion Syndrome |
|
Umbilical hernia, Intrauterine growth retardation, Spina bifida, Microphthalmia, Short stature, M... |
ORPHA:567 |
| Fontaine Progeroid Syndrome |
|
Umbilical hernia, Intrauterine growth retardation, Neonatal death, Microphthalmia, Short stature |
OMIM:612289 |
| Steinfeld Syndrome |
|
Microphthalmia |
OMIM:184705 |
| Hydrolethalus Syndrome 1 |
|
Intrauterine growth retardation, Anencephaly, Stillbirth, Microphthalmia |
OMIM:236680 |
| Cockayne Syndrome Type 3 |
|
Mild postnatal growth retardation, Microphthalmia |
ORPHA:90324 |
| Microphthalmia, Syndromic 1 |
|
Growth delay, Anophthalmia, Microphthalmia |
OMIM:309800 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Umbilical hernia, Delayed puberty, Microphthalmia, Short stature, Buphthalmos |
ORPHA:534 |
| Fraser Syndrome 2 |
|
Microphthalmia |
OMIM:617666 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Microphthalmia |
ORPHA:306542 |
| Cockayne Syndrome |
|
Severe short stature, Postnatal growth retardation, Delayed puberty, Microphthalmia, Growth delay |
ORPHA:191 |
| Traboulsi Syndrome |
|
Microphthalmia |
OMIM:601552 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Short stature, Microphthalmia |
OMIM:616734 |
| Fryns Syndrome |
|
Stillbirth, Microphthalmia |
OMIM:229850 |
| Phace Syndrome |
|
Lens coloboma, Optic nerve hypoplasia, Microphthalmia |
ORPHA:42775 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia |
OMIM:618426 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia |
OMIM:609945 |
| Degcags Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:619488 |
| Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
| Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Hypokalemia, Hypertriglyceridemia |
OMIM:619573 |
| Proximal Renal Tubular Acidosis |
|
Hypokalemia, Glycosuria, Bicarbonaturia |
ORPHA:47159 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Microphthalmia |
OMIM:100300 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia |
ORPHA:3186 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation |
OMIM:175050 |
| Yunis-Varon Syndrome |
|
Short stature, Postnatal growth retardation, Bilateral microphthalmos, Microphthalmia |
ORPHA:3472 |
| Neuroocular Syndrome 1 |
|
Umbilical hernia, Hypoplasia of the fovea, Microphthalmia, Short stature, Lens coloboma |
OMIM:619539 |
| Renpenning Syndrome 1 |
|
Short stature, Microphthalmia |
OMIM:309500 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Hypoplasia of the retina, Microphthalmia |
OMIM:253280 |
| Witteveen-Kolk Syndrome |
|
Branchial fistula, Intrauterine growth retardation, Microphthalmia, Short stature, Growth delay |
OMIM:613406 |
| Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Hepatic arteriovenous malfor... |
ORPHA:774 |
| Distal Renal Tubular Acidosis |
|
Hypokalemia |
ORPHA:18 |
| Holoprosencephaly 1 |
|
Short stature, Microphthalmia |
OMIM:236100 |
| Lowe Oculocerebrorenal Syndrome |
|
Short stature, Postnatal growth retardation, Microphthalmia |
OMIM:309000 |
| 8Q24.3 Microdeletion Syndrome |
|
Infancy onset short-trunk short stature, Branchial cyst, Bilateral microphthalmos, Intrauterine g... |
ORPHA:508488 |
| Tetraamelia Syndrome 1 |
|
Microphthalmia |
OMIM:273395 |
| Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia |
ORPHA:91347 |
| Pallister-Hall Syndrome |
|
Short stature, Intrauterine growth retardation, Microphthalmia, Umbilical hernia |
ORPHA:672 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia |
OMIM:612474 |
| Norrie Disease |
|
Hypoplasia of the iris, Delayed puberty, Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:649 |
| Roberts-Sc Phocomelia Syndrome |
|
Stillbirth, Postnatal growth retardation, Frontal encephalocele, Microphthalmia, Severe intrauter... |
OMIM:268300 |
| Mowat-Wilson Syndrome |
|
Short stature, Microphthalmia |
OMIM:235730 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
| Juvenile Polyposis Syndrome |
|
Extrahepatic portal hypertension, Neoplasm of the pancreas, Hepatic arteriovenous malformation |
ORPHA:2929 |
| Townes-Brocks Syndrome |
|
Short stature, Delayed puberty, Microphthalmia |
ORPHA:857 |
| Holoprosencephaly 2 |
|
Microphthalmia |
OMIM:157170 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Cirrhosis, Hepatic arteriovenous malformation |
OMIM:600376 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Cirrhosis, Hepatic arteriovenous malformation |
OMIM:187300 |
| Mowat-Wilson Syndrome |
|
Short stature, Growth delay, Microphthalmia |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Short stature, Microphthalmia |
ORPHA:261537 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Short stature, Microphthalmia |
ORPHA:261552 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypokalemia |
ORPHA:286 |
