| Major Depressive Disorder |
|
Depression |
OMIM:608516 |
| Major Affective Disorder 1 |
|
Mania, Depression |
OMIM:125480 |
| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
| Obsessive-Compulsive Disorder |
|
Collectionism, Compulsive behaviors, Skin-picking, Depression |
OMIM:164230 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Increased LDL cholesterol concent... |
OMIM:610947 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... |
OMIM:232700 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... |
OMIM:615703 |
| Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:71529 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Insu... |
OMIM:612526 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc... |
OMIM:608600 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Analbuminemia |
|
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... |
OMIM:616000 |
| Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
ORPHA:436182 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia |
OMIM:306000 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity |
OMIM:617885 |
| Neutral Lipid Storage Disease With Myopathy |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Adipose tissue loss, Insulin resistance, ... |
ORPHA:528 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:151660 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Elevated circu... |
ORPHA:435660 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hyperuricemia, Hypercho... |
ORPHA:77296 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Inc... |
ORPHA:79085 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Diabetes melli... |
OMIM:615381 |
| Hypertriglyceridemia, Transient Infantile |
|
Failure to thrive, Hypertriglyceridemia |
OMIM:614480 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Insulin-resist... |
ORPHA:435651 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Hypertriglyceridemia, Lipodystrophy, Increased C-peptide level |
OMIM:615238 |
| Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... |
OMIM:616222 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipos... |
OMIM:248370 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
| Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young |
ORPHA:254531 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,... |
ORPHA:363400 |
| Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia |
ORPHA:329249 |
| Galactokinase Deficiency |
|
Small for gestational age, Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasm... |
ORPHA:79237 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Rickets, Glycosu... |
ORPHA:2088 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Diabetes mellitu... |
ORPHA:79083 |
| Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide... |
OMIM:615980 |
| Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... |
ORPHA:79086 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, D... |
ORPHA:2348 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Large for gestational age |
ORPHA:2432 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
| Laron Syndrome |
|
Hypercholesterolemia, Hypoglycemia, Truncal obesity |
ORPHA:633 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
ORPHA:280365 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Obesity, Increa... |
ORPHA:412 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Obesity, Truncal obesity, Hyperc... |
ORPHA:96184 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Werner Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mine... |
OMIM:277700 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Arthrogryposis multiplex congenita |
OMIM:616570 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hypoglycemia, Hyperlipidemia, Osteoporosis, Failure to thrive |
ORPHA:369 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentrati... |
OMIM:613327 |
| Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Obesity |
ORPHA:66628 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, O... |
ORPHA:79240 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Obesity |
ORPHA:179494 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:613027 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Obesity, Type II diabetes mellitus, Microphthalmia, Abnormal circulating lipid c... |
ORPHA:3191 |
| Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98855 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... |
OMIM:608612 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Osteoporosis, Camptodactyly of finger, Hypoglycemia |
ORPHA:48431 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis |
OMIM:618398 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
| 2Q24 Microdeletion Syndrome |
|
Microphthalmia, Failure to thrive, Small for gestational age, Camptodactyly of finger |
ORPHA:1617 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Osteoporo... |
ORPHA:264580 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
| Cog4-Cdg |
|
Hypercholesterolemia, Failure to thrive in infancy |
ORPHA:263501 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98853 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr... |
OMIM:608594 |
| Congenital Varicella Syndrome |
|
Atypical scarring of skin, Microphthalmia |
ORPHA:291 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive |
ORPHA:2089 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity |
ORPHA:209902 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Small for gestational age |
OMIM:278780 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615947 |
| Seckel Syndrome 10 |
|
Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired glucose tolerance, Ins... |
OMIM:617253 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia, Craniosynostosis |
OMIM:218670 |
| Chylomicron Retention Disease |
|
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Failure to thrive |
OMIM:274270 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr... |
OMIM:269700 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... |
OMIM:203800 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Craniosynostosis |
ORPHA:1528 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Insulin resistance, Flexion contracture, Osteoporosis, Elbow flexion c... |
OMIM:214150 |
| Neuhauser Syndrome |
|
Hypoplasia of the iris, Osteopenia, Hypercholesterolemia |
OMIM:249310 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
| Warburg Micro Syndrome 1 |
|
Microphthalmia, Failure to thrive, Osteoporosis |
OMIM:600118 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypoplasia of the iris, Osteopenia, Hypercholesterolemia |
ORPHA:2479 |
| Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Increased circulating chylomicron concen... |
ORPHA:444490 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Flexion contracture, Elevated circulating creatine kinase concentration |
OMIM:613155 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
| Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity |
ORPHA:69663 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Osteoporosis, Elevated circulating creatine kinase concentration, Reduced b... |
ORPHA:261476 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Congenital diaphragmatic hernia |
OMIM:615524 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Cofs Syndrome |
|
Microphthalmia, Arthrogryposis multiplex congenita, Camptodactyly of finger |
ORPHA:1466 |
| Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
| Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia |
OMIM:617575 |
| Pierpont Syndrome |
|
Microphthalmia, Abnormal subcutaneous fat tissue distribution, Small for gestational age |
ORPHA:487825 |
| Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in infancy, Obesity |
ORPHA:819 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Lipodystrophy, Flexion contracture, Panniculitis, Failure to thrive |
OMIM:617591 |
| H Syndrome |
|
Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Osteolysis, Hernia, Camptodactyly |
ORPHA:168569 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:606721 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Microphthalmia, Decreased skull ossification |
ORPHA:93267 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Hypoalbuminemia, Failure to thrive in infancy |
OMIM:618805 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Obesity |
ORPHA:141333 |
| Cholestasis-Lymphedema Syndrome |
|
Multiple lipomas, Hyperlipidemia, Reduced bone mineral density |
ORPHA:1414 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Lissencephaly 8 |
|
Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:617255 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration |
OMIM:615181 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Obesity, Hyperproteinemia, Increased circula... |
ORPHA:90041 |
| Gracile Bone Dysplasia |
|
Decreased skull ossification, Hypocalcemia, Aniridia, Microphthalmia, Failure to thrive |
OMIM:602361 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Hyperglycemia |
ORPHA:90065 |
| Pierpont Syndrome |
|
Microphthalmia, Failure to thrive, Decreased body weight |
OMIM:602342 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis, Failure to thrive, Unilateral microphthalmos |
OMIM:615085 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hyperglycerolemia, Osteoporosis |
OMIM:307030 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Ventral hernia, Inguinal hernia, Hypertriglyceridemia, Widened atrophic scar, Diabete... |
ORPHA:536532 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Hyperchole... |
ORPHA:90674 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Microphthalmia, Osteoporosis |
ORPHA:2788 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Hyperalaninemia, Hypertriglyceridemia, Hyper... |
ORPHA:470 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Insulin resistance, Osteolysis, Generalized lipodystrophy, Osteolytic... |
ORPHA:90154 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Osteoporosis, Hypoglycemic seizur... |
ORPHA:79259 |
| Lowe Oculocerebrorenal Syndrome |
|
Hypercholesterolemia, Osteomalacia, Elevated circulating creatine kinase concentration, Elevated ... |
OMIM:309000 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
| Hartsfield Syndrome |
|
Microphthalmia, Craniosynostosis |
ORPHA:2117 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Lipoatrophy, Diabet... |
ORPHA:79474 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Hypocalcemia, Cachexia |
ORPHA:1438 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Camptodactyly, Microphthalmia, Joint contracture o... |
OMIM:136760 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Hernia |
OMIM:602501 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Camptodactyly, Knee flexion contracture |
OMIM:619694 |
| Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
| Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
| Congenital Toxoplasmosis |
|
Microphthalmia, Failure to thrive in infancy |
ORPHA:858 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Increased bone mineral density, Osteopetrosis, Decreased body weight |
OMIM:617306 |
| Familial Multiple Lipomatosis |
|
Insulin resistance, Hyperlipidemia, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
| Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Inguinal hernia |
ORPHA:1135 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:613153 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp... |
OMIM:127000 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Type I diabetes mellitus |
ORPHA:290 |
| Aromatase Deficiency |
|
Osteopenia, Eunuchoid habitus, Delayed epiphyseal ossification, Hyperlipidemia, Osteoporosis, Obe... |
ORPHA:91 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test... |
ORPHA:189427 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossi... |
ORPHA:163649 |
| Methanol Poisoning |
|
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus |
ORPHA:31825 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy |
ORPHA:363618 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Scarring alopecia of scalp, Neonatal epiphyseal stippling, Flexion... |
ORPHA:35173 |
| Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Congenital diaphragmatic hernia |
OMIM:300887 |
| Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Osteoporosis |
ORPHA:85194 |
| Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Flexion contracture, Elevated circulating creatine kinase concentration, Abnormal... |
OMIM:615249 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Flexion contracture, Optic nerve hypoplasia, Decreased body weight |
OMIM:614833 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Epiphyseal stippling, Stippled calcific... |
OMIM:302960 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal fear-induced behavior, Agitation, Restlessness, Depression |
ORPHA:100924 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexion contracture, Osteolytic defect... |
OMIM:619127 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration |
ORPHA:98907 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Microphthalmia, Hypocalcemic seizures |
OMIM:241410 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Obesity |
ORPHA:369837 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Xanthelasma, Steatorrhea... |
ORPHA:275761 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Obesity |
OMIM:601794 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Obesity |
ORPHA:363741 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Flexion contracture of finger, Hypertriglyceridemia, Lip... |
OMIM:256040 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
| Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Flexion contracture, Insulin resistance, Osteolysis, Osteolytic defects of the di... |
ORPHA:90153 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Decreased skull ossification |
OMIM:300863 |
| Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Camptodactyly of finger |
ORPHA:2547 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Small for gestational age, Camptodactyly of finger |
OMIM:610756 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Inguinal hernia, Hypercholesterolemia, Hypoammonemia, Osteomalacia, Abnormal dental... |
ORPHA:534 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age |
OMIM:256300 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Microphthalmia |
OMIM:614105 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Failure to thrive, Neonatal hyp... |
OMIM:619418 |
| Seckel Syndrome 2 |
|
Microphthalmia, Small for gestational age |
OMIM:606744 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Inguinal hernia, Lens coloboma, Joint contracture of the 4th finger, Joint contracture of the 5th... |
OMIM:618914 |
| Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Obesity |
OMIM:619471 |
| Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Hernia |
ORPHA:3378 |
| Neutral Lipid Storage Myopathy |
|
Diabetes mellitus, Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration |
ORPHA:98908 |
| Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Osteop... |
ORPHA:77293 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration |
ORPHA:370959 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Failure to thrive in infancy, Camptodactyly of finger, Bilateral microphthalmos, Elbow flexion co... |
OMIM:610758 |
| Sandestig-Stefanova Syndrome |
|
Microphthalmia, Small for gestational age, Camptodactyly |
OMIM:618804 |
| Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia |
OMIM:613730 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Lipomas of eyelids |
OMIM:167730 |
| Glycogen Storage Disease Ia |
|
Hypoglycemia, Hyperlipidemia, Osteoporosis, Xanthelasma, Hyperuricemia, Fasting hypoglycemia |
OMIM:232200 |
| Immunodeficiency 47 |
|
Hypercholesterolemia, Failure to thrive, Decreased circulating copper concentration |
OMIM:300972 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
| Joubert Syndrome 37 |
|
Microphthalmia, Obesity |
OMIM:619185 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
| 3Q29 Microduplication Syndrome |
|
Craniosynostosis, Obesity, Aniridia, Microphthalmia, Camptodactyly of toe |
ORPHA:251038 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia, Corneal scarring |
OMIM:212550 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Failure to thrive |
OMIM:612379 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Coronal craniosynostosis |
ORPHA:228390 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Poorly ossified vertebrae, Epiphyseal stippling |
OMIM:619135 |
| Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Reduced bone mineral density |
ORPHA:891 |
| Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Radial dysplasia |
OMIM:617244 |
| Moebius Syndrome |
|
Microphthalmia, Arthrogryposis multiplex congenita, Camptodactyly |
OMIM:157900 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos, Lipomas of eyelids, Multiple lipomas |
ORPHA:2399 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
| Curry-Jones Syndrome |
|
Microphthalmia, Craniosynostosis |
ORPHA:1553 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Failure to thrive, Anophthalmia, Congenital diaphragmatic hernia |
ORPHA:2470 |
| Stevenson-Carey Syndrome |
|
Microphthalmia, Joint contracture of the hand, Camptodactyly |
OMIM:611961 |
| Bresek Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:85284 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| 19P13.12 Microdeletion Syndrome |
|
Arthrogryposis multiplex congenita, Hyperlipidemia, Obesity, Craniosynostosis |
ORPHA:254346 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:616538 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Failure to thrive |
OMIM:617883 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
| Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Failure to thrive |
OMIM:243310 |
| Premature Aging Syndrome, Penttinen Type |
|
Flexion contracture of finger, Lipoatrophy, Osteoporosis, Keloids, Osteolytic defects of the dist... |
OMIM:601812 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Lipoma, Microphthalmia, Multiple central nervous system lipomas, Subcutan... |
OMIM:613001 |
| Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia |
ORPHA:167 |
| Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Abnormal dental enamel morphology, Congenital diaphragmatic hernia,... |
ORPHA:2092 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Microphthalmia With Limb Anomalies |
|
Microphthalmia, Failure to thrive, Anophthalmia, Camptodactyly of 2nd-5th fingers |
OMIM:206920 |
| Marden-Walker Syndrome |
|
Inguinal hernia, Congenital contracture, Camptodactyly, Microphthalmia, Joint contracture of the ... |
OMIM:248700 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
| Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
| Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia, Abnormal circulating creatine kinase concentration |
ORPHA:899 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Optic disc hypoplasia, Cam... |
ORPHA:3455 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Umbilical hernia, Bilateral microphthalmos, Arthrogryposis-like hand anomaly, Camptodactyly |
ORPHA:369891 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
| Griscelli Syndrome Type 2 |
|
Hyperlipidemia |
ORPHA:79477 |
| Otodental Syndrome |
|
Microphthalmia, Lens coloboma, Abnormal dental enamel morphology |
ORPHA:2791 |
| Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
| Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Optic nerve hypoplasia, Decreased body weight |
OMIM:609053 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Microphthalmia, Septo-optic dysplasia |
ORPHA:3301 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
| Galloway-Mowat Syndrome 3 |
|
Hiatus hernia, Hypoalbuminemia, Camptodactyly, Microphthalmia, Failure to thrive |
OMIM:617729 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia |
OMIM:118450 |
| Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Failure to thrive |
OMIM:616395 |
| Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia |
ORPHA:494344 |
| Warburg Micro Syndrome 4 |
|
Microphthalmia, Flexion contracture |
OMIM:615663 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
| Glycogen Storage Disease Ib |
|
Hypoglycemia, Hyperlipidemia, Osteoporosis, Xanthelasma, Hyperuricemia |
OMIM:232220 |
| Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Congenital contracture, Elevated circulating creatine kinase concent... |
OMIM:613150 |
| Galloway-Mowat Syndrome 1 |
|
Small for gestational age, Hiatus hernia, Hypoplasia of the iris, Hypoalbuminemia, Camptodactyly,... |
OMIM:251300 |
| Meckel Syndrome, Type 2 |
|
Omphalocele, Microphthalmia |
OMIM:603194 |
| Aapoaiv Amyloidosis |
|
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration |
ORPHA:439232 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
| Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive pro... |
OMIM:619573 |
| Fetal Alcohol Syndrome |
|
Microphthalmia, Congenital diaphragmatic hernia |
ORPHA:1915 |
| Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Flexion contracture, Small for gestational age, Absence of subcutaneous fat |
OMIM:601675 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Warburg Micro Syndrome 3 |
|
Microphthalmia, Flexion contracture |
OMIM:614222 |
| Momo Syndrome |
|
Bilateral microphthalmos, Large for gestational age, Obesity, Abnormal bone ossification |
ORPHA:2563 |
| Heart And Brain Malformation Syndrome |
|
Microphthalmia, Camptodactyly of finger |
OMIM:616920 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
| 3P25.3 Microdeletion Syndrome |
|
Microphthalmia, Knee flexion contracture |
ORPHA:435638 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Inguinal hernia, Umbilical hernia |
ORPHA:2505 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalc... |
ORPHA:93325 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Failure to thrive |
ORPHA:2328 |
| Steinert Myotonic Dystrophy |
|
Hypercholesterolemia, Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:273 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia, Flexion contracture, Elevated circulating creatine kinase concentration |
OMIM:253800 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Microphthalmia, Anophthalmia |
OMIM:248450 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Congenital diaphragmatic hernia |
OMIM:612530 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
| Oculofaciocardiodental Syndrome |
|
Microphthalmia, Flexion contracture of the 2nd toe, Flexion contracture of the 4th toe |
ORPHA:2712 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Small for gestational age, Lipoatrophy... |
OMIM:264090 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
| Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Inguinal hernia |
OMIM:616449 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Holoprosencephaly |
|
Hyponatremia, Omphalocele, Anophthalmia, Failure to thrive in infancy, Hypoglycemia, Congenital d... |
ORPHA:2162 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Joint contracture of the 5th finger |
OMIM:620098 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
| Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia, Inguinal hernia, Hypocholesterolemia |
OMIM:223370 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia |
ORPHA:335 |
| Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia, Small for gestational age, Camptodactyly |
OMIM:619148 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Small for gestational age, Osteoporosis, Ivory epiphyses of ... |
OMIM:133540 |
| Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
| Microcephaly-Micromelia Syndrome |
|
Microphthalmia, Craniosynostosis |
OMIM:251230 |
| Martsolf Syndrome 1 |
|
Microphthalmia, Inguinal hernia |
OMIM:212720 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia, Hypotriglyceridemia |
ORPHA:85167 |
| Frontonasal Dysplasia 2 |
|
Microphthalmia, Craniosynostosis |
OMIM:613451 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration |
OMIM:614643 |
| Warburg Micro Syndrome 2 |
|
Microphthalmia, Flexion contracture |
OMIM:614225 |
| Joubert Syndrome 14 |
|
Microphthalmia |
OMIM:614424 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Adams-Oliver Syndrome |
|
Microphthalmia, Failure to thrive |
ORPHA:974 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Buphthalmos, Congenit... |
OMIM:236670 |
| Mosaic Trisomy 1 |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture,... |
ORPHA:1692 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Joint contracture of the hand, Camptodactyly of finger |
OMIM:244300 |
| Frontorhiny |
|
Microphthalmia, Camptodactyly of finger, Pericallosal lipoma |
ORPHA:391474 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Incontinentia Pigmenti |
|
Camptodactyly of finger, Abnormal dental enamel morphology, Osteolysis, Umbilical hernia, Microph... |
ORPHA:464 |
| Mend Syndrome |
|
Microphthalmia, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Failure to thrive |
ORPHA:401973 |
| Ohdo Syndrome, X-Linked |
|
Microphthalmia, Inguinal hernia, Hiatus hernia, Decreased body weight |
OMIM:300895 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia, Failure to thrive |
OMIM:257850 |
| Papillorenal Syndrome |
|
Microphthalmia, Elevated circulating creatinine concentration |
OMIM:120330 |
| Meckel Syndrome 14 |
|
Microphthalmia, Decreased calvarial ossification |
OMIM:619879 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
| Trisomy 18 |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Hernia, Micropht... |
ORPHA:3380 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concen... |
OMIM:619534 |
| Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Bilate... |
ORPHA:33364 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
| Curry-Jones Syndrome |
|
Bicoronal synostosis, Microphthalmia, Unicoronal synostosis |
OMIM:601707 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Scarring alopecia of scalp, Enamel hypoplasia |
OMIM:618727 |
| Meckel Syndrome, Type 4 |
|
Microphthalmia |
OMIM:611134 |
| Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
| Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... |
OMIM:609049 |
| Hallermann-Streiff Syndrome |
|
Microphthalmia, Small for gestational age, Decreased number of sternal ossification centers |
OMIM:234100 |
| Cohen Syndrome |
|
Microphthalmia, Failure to thrive in infancy, Obesity |
ORPHA:193 |
| Micro Syndrome |
|
Microphthalmia |
ORPHA:2510 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
| 3Q29 Microdeletion Syndrome |
|
Microphthalmia, Failure to thrive |
ORPHA:65286 |
| 1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Inguinal hernia, Failure to thrive |
ORPHA:250989 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Microphthalmia, Unicoronal synostosis |
OMIM:616300 |
| Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Small for gestational age, Abnormal circulating fa... |
ORPHA:567983 |
| Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
| Fryns Syndrome |
|
Omphalocele, Microphthalmia, Congenital diaphragmatic hernia |
ORPHA:2059 |
| Vacterl With Hydrocephalus |
|
Microphthalmia, Inguinal hernia, Anophthalmia, Femoral hernia |
ORPHA:3412 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Enamel hypoplasia, Failure to thrive, Unilateral microphthalmos |
OMIM:618874 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Inguinal hernia, Contracture of the proximal interphalangeal joint of the 3rd finger |
ORPHA:464738 |
| Microphthalmia, Lenz Type |
|
Microphthalmia, Camptodactyly of finger |
ORPHA:568 |
| Oculodentodigital Dysplasia |
|
Microphthalmia, Joint contracture of the 5th finger, Vertebral hyperostosis, Enamel hypoplasia |
OMIM:164200 |
| Woodhouse-Sakati Syndrome |
|
Osteopenia, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia |
ORPHA:3464 |
| Pseudotrisomy 13 Syndrome |
|
Omphalocele, Microphthalmia |
OMIM:264480 |
| 8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Camptodactyly of finger |
ORPHA:284160 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
| Joubert Syndrome 2 |
|
Microphthalmia, Failure to thrive |
OMIM:608091 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Camptodactyly |
OMIM:614230 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
| Treacher-Collins Syndrome |
|
Abnormal dental enamel morphology, Microphthalmia, Failure to thrive, Abnormality of bone mineral... |
ORPHA:861 |
| Mosaic Trisomy 9 |
|
Microphthalmia, Camptodactyly of finger |
ORPHA:99776 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Failure to thrive |
OMIM:300952 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Small for gestational age, Microphthalmia, Osteoporosis |
OMIM:268400 |
| Pallister-Hall Syndrome |
|
Microphthalmia, Decreased circulating cortisol level |
OMIM:146510 |
| Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
| 2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Inguinal hernia, Camptodactyly of finger |
ORPHA:251014 |
| Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Failure to thrive |
OMIM:603467 |
| Atelis Syndrome 2 |
|
Microphthalmia, Hyperinsulinemia |
OMIM:620185 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Microphthalmia, Phthisis bulbi, Osteoporosis |
OMIM:259770 |
| Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Flexion contracture, Small for gestational age |
OMIM:227645 |
| Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
| Cousin Syndrome |
|
Microphthalmia, Joint contracture of the hand, Wrist flexion contracture, Camptodactyly |
OMIM:260660 |
| Jacobsen Syndrome |
|
Microphthalmia, Failure to thrive, Macular hypoplasia, Flexion contracture |
OMIM:147791 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatine kinase concentration |
ORPHA:565612 |
| Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Cachexia, Contractures of the large joint... |
ORPHA:191 |
| Monosomy 9Q22.3 |
|
Microphthalmia, Umbilical hernia, Large for gestational age |
ORPHA:77301 |
| Histiocytoid Cardiomyopathy |
|
Microphthalmia, Failure to thrive, Hypoglycemia, Congenital aphakia |
ORPHA:137675 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Absence of subcutaneous fat, Craniosynostosis |
OMIM:620005 |
| Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Small for gestational age |
OMIM:600901 |
| Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Cellulitis |
OMIM:153400 |
| Duane-Radial Ray Syndrome |
|
Microphthalmia, Optic disc hypoplasia |
OMIM:607323 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
| Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Irregular ossification of hand bones |
OMIM:109400 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Inguinal hernia, Anophthalmia |
ORPHA:2250 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Failure to thrive |
ORPHA:364577 |
| Hallermann-Streiff Syndrome |
|
Microphthalmia, Reduced bone mineral density |
ORPHA:2108 |
| Acro-Renal-Ocular Syndrome |
|
Microphthalmia, Optic disc hypoplasia, Radial club hand |
ORPHA:959 |
| Fanconi Anemia, Complementation Group A |
|
Microphthalmia, Small for gestational age |
OMIM:227650 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia, Scarring |
OMIM:308300 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Optic nerve hypoplasia, Craniosynostosis, Ankle flexion contracture,... |
ORPHA:468631 |
| 22Q11.2 Deletion Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Multiple suture craniosynostosis, Um... |
ORPHA:567 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia, Osteolysis |
ORPHA:1052 |
| Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos, Camptodactyly of finger |
ORPHA:2839 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Camptodactyly of finger |
ORPHA:1236 |
| Glycogen Storage Disease Ic |
|
Xanthelasma, Hyperlipidemia, Hypoglycemia, Hyperuricemia |
OMIM:232240 |
| Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
| Teebi-Shaltout Syndrome |
|
Microphthalmia, Camptodactyly |
OMIM:272950 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
| Cat Eye Syndrome |
|
Microphthalmia, Umbilical hernia |
OMIM:115470 |
| Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Congenital diaphragmatic hernia |
ORPHA:268249 |
| Degcags Syndrome |
|
Osteopenia, Small for gestational age, Craniosynostosis, Hiatus hernia, Hyperbilirubinemia, Micro... |
OMIM:619488 |
| Roberts Syndrome |
|
Progressive flexion contractures, Craniosynostosis, Knee flexion contracture, Microphthalmia, Wri... |
ORPHA:3103 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
| Fanconi Anemia |
|
Weight loss, Aplasia/Hypoplasia of the iris, Reduced bone mineral density, Umbilical hernia, Micr... |
ORPHA:84 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Failure to thrive, Anophthalmia, Hiatus hernia |
ORPHA:2538 |
| Stromme Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia, Panniculitis, Cellulitis |
ORPHA:2526 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
| Aicardi Syndrome |
|
Microphthalmia, Multiple lipomas, Hiatus hernia |
ORPHA:50 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia, Decreased calvarial ossification |
OMIM:617925 |
| Oculoauricular Syndrome |
|
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia |
OMIM:612109 |
| Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Anophthalmia, Bilateral microphthalmos, Congenital diaphragmatic hernia |
OMIM:601186 |
| Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Inguinal hernia, Flexion contracture, Microphthalmia, Arthrogryposis multiplex conge... |
OMIM:263650 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia, Inguinal hernia, Craniosynostosis, Knee flexion contracture |
OMIM:609945 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Small for gestational age, Craniosynostosis, Umbilical herni... |
OMIM:612289 |
| Fryns Syndrome |
|
Omphalocele, Large for gestational age, Aplasia of the left hemidiaphragm, Camptodactyly, Microph... |
OMIM:229850 |
| Phace Association |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Microphthalmia, Umbilical hernia |
ORPHA:2166 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| Aicardi Syndrome |
|
Lipoma, Microphthalmia, Hiatus hernia |
OMIM:304050 |
| Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Small for gestational age |
OMIM:227646 |
| Microphthalmia With Limb Anomalies |
|
Microphthalmia, Failure to thrive, Camptodactyly of 2nd-5th fingers, True anophthalmia |
ORPHA:1106 |
| Meckel Syndrome, Type 1 |
|
Elevated amniotic fluid alpha-fetoprotein, Microphthalmia, Omphalocele, Camptodactyly of finger |
OMIM:249000 |
| Monosomy 9P |
|
Microphthalmia, Hernia, Congenital diaphragmatic hernia |
ORPHA:261112 |
| Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Diabetes mellitus |
OMIM:241080 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina, Elevated circulating creatine kinase conce... |
OMIM:253280 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, Phthisis bulbi, Flexion contracture, Umbilical hernia, Decreased body weight, Micro... |
OMIM:300166 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:508498 |
| Myhre Syndrome |
|
Microphthalmia, Small for gestational age, Obesity, Camptodactyly |
OMIM:139210 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia, Congenital diaphragmatic hernia |
OMIM:309801 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Microphthalmia,... |
ORPHA:2556 |
| Yunis-Varon Syndrome |
|
Absent sternal ossification, Bilateral microphthalmos, Severe failure to thrive, Microphthalmia, ... |
ORPHA:3472 |
| Cockayne Syndrome Type 3 |
|
Microphthalmia, Enamel hypoplasia, Flexion contracture |
ORPHA:90324 |
| Alström Syndrome |
|
Hypertriglyceridemia, Dorsocervical fat pad, Hyperlipidemia, Insulin resistance, Hyperinsulinemia... |
ORPHA:64 |
| Holoprosencephaly 7 |
|
Omphalocele, Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Microphthalmia, Unconjugated hyperbilirubinemia |
OMIM:620186 |
| Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia |
ORPHA:2714 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353277 |
| Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
| Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
| Charge Syndrome |
|
Microphthalmia, Anophthalmia, Abnormality of bone mineral density |
ORPHA:138 |
| Frontofacionasal Dysplasia |
|
Microphthalmia, Frontal cutaneous lipoma |
OMIM:229400 |
| Fanconi Anemia, Complementation Group L |
|
Microphthalmia |
OMIM:614083 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microphthalmia |
OMIM:616975 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Anophthalmia, Congenital diaphragmatic hernia, Hiatus hernia, Umbil... |
OMIM:305600 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
| Meckel Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia |
ORPHA:564 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Microphthalmia |
ORPHA:3186 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Inguinal hernia |
OMIM:603457 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia, Camptodactyly of finger, Pericallosal lipoma |
ORPHA:306542 |
| Fraser Syndrome 2 |
|
Microphthalmia |
OMIM:617666 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia, Obesity, Hyperglycemia |
ORPHA:293987 |
| Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Inguinal hernia, Umbilical hernia |
OMIM:613884 |
| Steinfeld Syndrome |
|
Microphthalmia |
OMIM:184705 |
| Witteveen-Kolk Syndrome |
|
Inguinal hernia, Small for gestational age, Congenital diaphragmatic hernia, Obesity, Contracture... |
OMIM:613406 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Failure to thrive |
OMIM:608670 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Diabetes mellitus, Cachexia, Hypoplasia of the iris, Microphthalm... |
ORPHA:649 |
| Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia, Failure to thrive, Truncal obesity, Camptodactyly |
OMIM:612474 |
| Neu-Laxova Syndrome 1 |
|
Microphthalmia, Joint contracture of the hand, Yellow subcutaneous tissue covered by thin, scaly ... |
OMIM:256520 |
| Tetraamelia Syndrome 1 |
|
Microphthalmia, Congenital diaphragmatic hernia |
OMIM:273395 |
| Charge Syndrome |
|
Omphalocele, Anophthalmia, Unilateral microphthalmos, Umbilical hernia, Hypocalcemia, Microphthalmia |
OMIM:214800 |
| Renpenning Syndrome 1 |
|
Microphthalmia, Joint contracture of the hand, Camptodactyly |
OMIM:309500 |
| Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
| Fraser Syndrome |
|
Omphalocele, Microphthalmia, Anophthalmia, Umbilical hernia |
ORPHA:2052 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:619539 |
| Microphthalmia, Syndromic 6 |
|
Microphthalmia, Failure to thrive, Anophthalmia, Lambdoidal craniosynostosis |
OMIM:607932 |
| Holoprosencephaly 1 |
|
Microphthalmia, Hypoglycemia |
OMIM:236100 |
| Monosomy 13Q14 |
|
Microphthalmia |
ORPHA:1587 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:175780 |
| Pallister-Hall Syndrome |
|
Inguinal hernia, Large for gestational age, Umbilical hernia, Distal arthrogryposis, Microphthalmia |
ORPHA:672 |
| Adams-Oliver Syndrome 1 |
|
Microphthalmia |
OMIM:100300 |
| 8Q24.3 Microdeletion Syndrome |
|
Inguinal hernia, Bilateral microphthalmos, Small for gestational age, Optic nerve hypoplasia |
ORPHA:508488 |
| Roberts-Sc Phocomelia Syndrome |
|
Ankle flexion contracture, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture,... |
OMIM:268300 |
| Branchiooculofacial Syndrome |
|
Atypical scarring of skin, Microphthalmia, Anophthalmia, Elbow flexion contracture |
OMIM:113620 |
| Hydrolethalus Syndrome 1 |
|
Omphalocele, Microphthalmia |
OMIM:236680 |
| Fraser Syndrome 1 |
|
Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Flexion contracture, Camptodactyly, Right unicoronal synostosis, Microphthalmia, Failure to thrive |
ORPHA:261537 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Flexion contracture, Camptodactyly, Right unicoronal synostosis, Microphthalmia, Failure to thrive |
ORPHA:261552 |
| Townes-Brocks Syndrome |
|
Microphthalmia, Failure to thrive |
ORPHA:857 |
| Mowat-Wilson Syndrome |
|
Microphthalmia |
OMIM:235730 |
| Mowat-Wilson Syndrome |
|
Microphthalmia, Flexion contracture, Camptodactyly, Decreased body weight |
ORPHA:2152 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
| Holoprosencephaly 2 |
|
Microphthalmia |
OMIM:157170 |
| Microphthalmia, Syndromic 1 |
|
Joint contracture of the hand, Microphthalmia, Anophthalmia, Camptodactyly |
OMIM:309800 |
| Craniofacial Microsomia 1 |
|
Microphthalmia, Anophthalmia |
OMIM:164210 |
