Major Affective Disorder 2 |
|
Bipolar affective disorder |
OMIM:309200 |
Lithium Transport |
|
Bipolar affective disorder |
OMIM:152420 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Mental Retardation, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Major Affective Disorder 1 |
|
Depression |
OMIM:125480 |
Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Osteoporosis, Hypercholesterolem... |
OMIM:610947 |
Mental Retardation, Autosomal Recessive 59 |
|
Aggressive behavior |
OMIM:617323 |
Intellectual Developmental Disorder, X-Linked 63 |
|
Anxiety |
OMIM:300387 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... |
OMIM:232700 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia |
OMIM:306000 |
Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
Persistent Idiopathic Facial Pain |
|
Anxiety, Depression |
ORPHA:398147 |
Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... |
OMIM:606721 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... |
OMIM:615703 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Obes... |
ORPHA:71529 |
Familial Alzheimer-Like Prion Disease |
|
Anxiety, Emotional lability, Depression |
ORPHA:280397 |
Lipase Deficiency, Combined |
|
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia |
OMIM:246650 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy... |
OMIM:612526 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... |
OMIM:608600 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia |
OMIM:613877 |
Hypertriglyceridemia 1 |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia |
OMIM:144600 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... |
OMIM:616000 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus at puberty, Red... |
ORPHA:280356 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:2457 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Failure to thrive in infancy, Hypertriglyceridemia |
OMIM:619175 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Insulin resistance, Failure to thrive, Truncal obesity, ... |
ORPHA:181393 |
Chorea, Benign Hereditary |
|
Anxiety |
OMIM:118700 |
Lipodystrophy, Familial Partial, Type 5 |
|
Abnormal circulating lipid concentration, Lipodystrophy, Hypertriglyceridemia |
OMIM:615238 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Anxiety, Depression |
OMIM:614296 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concen... |
OMIM:604367 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... |
OMIM:605814 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elbow flexion contracture, Elevate... |
OMIM:616516 |
Myoclonus-Dystonia Syndrome |
|
Panic attack, Anxiety, Depression, Personality disorder |
ORPHA:36899 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
ORPHA:436182 |
Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... |
OMIM:616222 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia, Large for gestational age |
OMIM:248110 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Dystonia 11, Myoclonic |
|
Agoraphobia, Anxiety, Depression |
OMIM:159900 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, Insulin-resista... |
ORPHA:435660 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystrophy, Increased... |
ORPHA:79085 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating creatine kinase concentration, Diabetes mellitus, Hypertriglyceridemia |
OMIM:610717 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Congenital Generalized Lipodystrophy |
|
Bone cyst, Insulin resistance, Failure to thrive, Lipodystrophy, Adipose tissue loss, Hypercholes... |
ORPHA:528 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of subcutaneous ad... |
OMIM:151660 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Lipodystrophy, Osteoporosis, Hypertriglyceridemia, Diabetes mellitus, Flexion... |
OMIM:615381 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior |
OMIM:619031 |
Glycerol Kinase Deficiency |
|
Osteoporosis, Hypoglycemia, Hypertriglyceridemia, Small for gestational age |
OMIM:307030 |
Childhood-Onset Benign Chorea With Striatal Involvement |
|
Anxiety |
ORPHA:494541 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant diabetes mellitus... |
ORPHA:435651 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoporosis, Hyperuricemia, Hypercholesterolemia, Hyperostosis frontalis interna, Diabetes melli... |
ORPHA:77296 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, G... |
ORPHA:363400 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... |
OMIM:618620 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia |
ORPHA:254531 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Huntington Disease-Like 2 |
|
Anxiety, Irritability, Apathy, Depression |
OMIM:606438 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Rickets, Failure to thrive, Impaired glucose tolerance, Hypophosphatemia, G... |
ORPHA:2088 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea |
OMIM:613703 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... |
ORPHA:79086 |
Galactokinase Deficiency |
|
Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hypercholesterolem... |
ORPHA:79237 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Arthrogryposis multiplex congenita |
OMIM:616570 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Large for gestational age |
ORPHA:2432 |
Pparg-Related Familial Partial Lipodystrophy |
|
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resi... |
ORPHA:79083 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Lipoatrophy, Dia... |
ORPHA:2348 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Lipodystrophy, Hypercholesterolemia, ... |
ORPHA:86816 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Laron Syndrome |
|
Hypercholesterolemia, Hypoglycemia, Truncal obesity |
ORPHA:633 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity, Hyperlipidemia, Insulin resistance |
OMIM:617885 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridem... |
OMIM:207750 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of subcutaneous ad... |
ORPHA:280365 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Elevated circulating creatine kinase concentration, Failure to thrive, Lipody... |
OMIM:613327 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Failure to thrive, Osteoporosis, Arthrogryposis multiplex congenita, Joint contra... |
OMIM:214150 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... |
OMIM:608612 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... |
ORPHA:412 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... |
ORPHA:96184 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... |
OMIM:248370 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Suicidal ideation |
ORPHA:208441 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Elevated circulating creatine kinase concentration, Osteoporosis, Ketotic h... |
ORPHA:79240 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Failure to thrive, Osteoporosis, Osteopenia |
ORPHA:369 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Type II diabetes mellitus, Overweight |
ORPHA:401923 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Microphthalmia, Abnormal circulating lipid concentration, Obesity, Ing... |
ORPHA:3191 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Cigarette-paper scars, Bilateral microphthalmos, Inguinal hernia |
OMIM:608763 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Obesity, Hyperinsulinemia, Hypertriglyceridemia |
ORPHA:66628 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Panniculitis, Hypertriglyceridemia |
OMIM:618398 |
Glycogen Storage Disease Ixc |
|
Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia |
OMIM:613027 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... |
ORPHA:98855 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Obesity, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Congenital Varicella Syndrome |
|
Atypical scarring of skin, Microphthalmia |
ORPHA:291 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Obesity, Hyperinsulinemia, Hypertriglyceridemia |
ORPHA:179494 |
Dystonia 26, Myoclonic |
|
Anxiety, Depression |
OMIM:616398 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Osteoporosis, Microphthalmia, Camptodactyly of finger |
ORPHA:48431 |
2Q24 Microdeletion Syndrome |
|
Failure to thrive, Microphthalmia, Small for gestational age, Camptodactyly of finger |
ORPHA:1617 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... |
ORPHA:567548 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Decreased body mass ind... |
ORPHA:247585 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Failure t... |
ORPHA:264580 |
Early-Onset Schizophrenia |
|
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... |
ORPHA:96369 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... |
ORPHA:98853 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concent... |
OMIM:238600 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia, Abdominal obesity, Truncal obesity |
OMIM:615812 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia |
ORPHA:2089 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... |
ORPHA:650 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... |
ORPHA:247598 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Small for gestational age, Camptodactyly of finger |
OMIM:610756 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:208920 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Microphthalmia |
OMIM:274270 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissue, Lipodystrop... |
OMIM:608594 |
Foveal Hypoplasia 2 |
|
Microphthalmia, Hypoplasia of the fovea |
OMIM:609218 |
Nephrotic Syndrome, Type 14 |
|
Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Congenital diaphragmatic hernia, Microphthalmia |
OMIM:615524 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... |
OMIM:267700 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Truncal obesity, Hy... |
OMIM:203800 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia, Hypoplasia of the iris, Osteopenia |
OMIM:249310 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hyperargininemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperammonemia |
OMIM:603471 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Decreased body weight... |
ORPHA:444490 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Lysosomal Acid Lipase Deficiency |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Failure to thri... |
OMIM:278000 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, Hypoplasia of the iris, Osteopenia |
ORPHA:2479 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissue, Lipodystrop... |
OMIM:269700 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Warburg Micro Syndrome 1 |
|
Failure to thrive, Osteoporosis, Microphthalmia |
OMIM:600118 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Obesity, Diabetes mellitus, Overweight |
ORPHA:69663 |
Cog4-Cdg |
|
Hypercholesterolemia, Failure to thrive in infancy |
ORPHA:263501 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158057 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Irritability, Abnormal aggressive, i... |
ORPHA:3077 |
Pierpont Syndrome |
|
Abnormal subcutaneous fat tissue distribution, Microphthalmia, Small for gestational age |
ORPHA:487825 |
Xp21 Deletion Syndrome |
|
Elevated circulating creatine kinase concentration, Osteoporosis, Hypertriglyceridemia, Reduced b... |
ORPHA:261476 |
Cofs Syndrome |
|
Microphthalmia, Arthrogryposis multiplex congenita, Camptodactyly of finger |
ORPHA:1466 |
Seckel Syndrome 10 |
|
Insulin resistance, Glucose intolerance, Impaired glucose tolerance, Glycosuria, Diabetes mellitu... |
OMIM:617253 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Craniosynostosis, Microphthalmia |
OMIM:218670 |
H Syndrome |
|
Lipodystrophy, Hernia, Hypertriglyceridemia, Diabetes mellitus, Camptodactyly, Osteolysis |
ORPHA:168569 |
Glycogen Storage Disease Iii |
|
Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperlipidemia |
OMIM:232400 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Craniotelencephalic Dysplasia |
|
Craniosynostosis, Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Lipodystrophy, Panniculitis, Hypertriglyceridemia, Flexion contracture |
OMIM:617591 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Microphthalmia, Decreased skull ossification |
ORPHA:93267 |
Faciothoracogenital Syndrome |
|
Microphthalmia |
OMIM:227320 |
Biemond Syndrome Type 2 |
|
Obesity, Microphthalmia |
ORPHA:141333 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Microphthalmia |
OMIM:221950 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Elevated circulating creatine kinase concentration, Failure to thrive, Hype... |
ORPHA:370 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Failure to thrive in infancy, Microphthalmia, Hypoalbuminemia |
OMIM:618805 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... |
ORPHA:64753 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Obesity, Failure to thrive in infancy, Hypertriglyceridemia |
ORPHA:819 |
Warburg Micro Syndrome 4 |
|
Microphthalmia, Flexion contracture |
OMIM:615663 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Microphthalmia |
OMIM:120433 |
Cholestasis-Lymphedema Syndrome |
|
Reduced bone mineral density, Hyperlipidemia, Multiple lipomas |
ORPHA:1414 |
Sitosterolemia 1 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration, Hyperapobetalipoproteinemia |
OMIM:210250 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Gaisböck Syndrome |
|
Hyperproteinemia, Obesity, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglycer... |
ORPHA:90041 |
Pierpont Syndrome |
|
Failure to thrive, Decreased body weight, Microphthalmia |
OMIM:602342 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Umbilical hernia, Inguinal hernia, Osteopenia, Diabetes mellitus, Hypertriglyceridemia, Ventral h... |
ORPHA:536532 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum ... |
OMIM:619662 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Failure to thrive,... |
ORPHA:90674 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Microphthalmia |
OMIM:615181 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteoporosis, Microphthalmia, Osteopenia |
ORPHA:2788 |
Gracile Bone Dysplasia |
|
Microphthalmia, Aniridia, Failure to thrive, Decreased skull ossification, Hypocalcemia |
OMIM:602361 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypercholesterolemia |
ORPHA:90065 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Acroosteolysis of dist... |
ORPHA:90154 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Elevated circulating creatine kinase concentration, Microphthalmia |
OMIM:613153 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Microphthalmia, Joint contracture of the hand, Pericallosal lipoma, Cam... |
OMIM:136760 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Microphthalmia, Hypocalcemia |
ORPHA:1438 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Type II diabetes mellitus, Hyperlipidemia, Glucose intolerance, Dorsocervical fat pad, Abnormal s... |
ORPHA:189439 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemia, Hyperlipidemia, Failure to thrive, Osteoporosis, Hyperuricemia, Hypercholesterolemi... |
ORPHA:79259 |
Hartsfield Syndrome |
|
Craniosynostosis, Microphthalmia |
ORPHA:2117 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Failure to thrive, Increased total bilirubin, Increased circulatin... |
OMIM:603553 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis, Microphthalmia |
OMIM:617306 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Lipoatrophy |
ORPHA:90970 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Lysinuric Protein Intolerance |
|
Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Increased LDL... |
ORPHA:470 |
Mody |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia |
ORPHA:83461 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Hernia |
OMIM:602501 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Microphthalmia |
OMIM:212550 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Microphthalmia |
OMIM:613885 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia, Rickets, Failure to thrive, Elevated maternal serum alpha-fetoprotein, Joint cont... |
OMIM:309000 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Congenital Rubella Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the iris, Type I diabetes mellitus |
ORPHA:290 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hyperlipidemia, Glucose intolerance, Dorsocervical fat pad, Increased circulating cortisol level,... |
ORPHA:189427 |
Familial Multiple Lipomatosis |
|
Increased adipose tissue, Lipodystrophy, Hyperlipidemia, Insulin resistance |
ORPHA:199276 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia |
ORPHA:363618 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Tarsal stippling, Elevated 8(9)-cholestenol, Microphthalmia, Epiphyseal stippling, Failure to thr... |
OMIM:302960 |
Spondylo-Ocular Syndrome |
|
Osteoporosis, Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Atypical Werner Syndrome |
|
Chondrocalcinosis, Type II diabetes mellitus, Insulin-resistant diabetes mellitus, Hyperglycemia,... |
ORPHA:79474 |
Warburg Micro Syndrome 3 |
|
Microphthalmia, Flexion contracture |
OMIM:614222 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
Congenital Toxoplasmosis |
|
Failure to thrive in infancy, Microphthalmia |
ORPHA:858 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Inguinal hernia |
ORPHA:1135 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Small for gestational age, Thickened cortex of long bones, Increased bone mineral... |
OMIM:127000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Microphthalmia, Flexion contracture, Elevated circulating creatine kinase... |
OMIM:615249 |
Aromatase Deficiency |
|
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Osteoporosis, Delayed epiphyseal o... |
ORPHA:91 |
Methanol Poisoning |
|
Type II diabetes mellitus, Type I diabetes mellitus, Hyperlipidemia |
ORPHA:31825 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Epiphyseal stippling, Anterior rib punctate calcifications, Scarring alopecia of ... |
ORPHA:35173 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Decreased body weight, Microphthalmia, Flexion contracture |
OMIM:614833 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Congenital diaphragmatic hernia, Microphthalmia |
OMIM:612530 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:164180 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Abnormal bone ossification, Microphthalmia, Increased bone mineral density, Delayed patellar ossi... |
ORPHA:163649 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Omphalocele, Microphthalmia |
OMIM:248450 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic disc hypoplasia, Optic nerve hypoplasia, Unilateral microphthalmos, Aplasia/Hypoplasia of t... |
ORPHA:137902 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Glucose intolerance, Generalized lipodystrophy, Osteopenia, Elevated hemoglobin A1c, Flexion cont... |
OMIM:619127 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:618183 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Multiple lipomas, Lipomas of eyelids |
OMIM:167730 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Microphthalmia, Multiple lipomas, Lipomas of eyelids |
ORPHA:2399 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Craniosynostosis, Osteopenia, Hypertriglyceridemia, Obesity |
ORPHA:369837 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Flexion contracture of toe, Failure to thrive, Panniculi... |
OMIM:256040 |
Microtriplication 11Q24.1 |
|
Obesity, Hyperlipidemia |
ORPHA:289522 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Decreased skull ossification, Microphthalmia |
OMIM:300863 |
Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hyponatremia, Cachexia, Failure to thrive, Weight loss, Hypercholesterolemia, Xanth... |
ORPHA:275761 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity, Microphthalmia |
OMIM:601794 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Camptodactyly of finger |
ORPHA:2547 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Obesity, Microphthalmia |
ORPHA:363741 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Insulin resistance, Osteolytic defects of the distal phalanges of the hand, Acroo... |
ORPHA:90153 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:98907 |
Gm2 Gangliosidosis, Ab Variant |
|
Anxiety, Abnormal fear/anxiety-related behavior, Inappropriate behavior |
ORPHA:309246 |
Trisomy 13 |
|
Anophthalmia, Microphthalmia, Aplasia/Hypoplasia of the iris, Hernia |
ORPHA:3378 |
Seckel Syndrome 2 |
|
Microphthalmia, Small for gestational age |
OMIM:606744 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Buphthalmos, Microphthalmia, Hypokalemia, Failure to thrive, Abnormal dental enamel... |
ORPHA:534 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Failure to thrive in infancy, Hypoglycemia, Failure to thrive, Neonatal hypoglycemia, Hypertrigly... |
OMIM:619418 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Obesity |
OMIM:619471 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Microphthalmia, Umbilical hernia, Inguinal hernia, Joint contracture of the 4th fi... |
OMIM:618914 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hyperlipidemia, Increased LDL cholesterol concentration,... |
ORPHA:77293 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Failure to thrive in infancy, Flexion contracture of toe, Arthrogryposis multiplex congenita, Dec... |
OMIM:610758 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Reduced bone mineral density |
ORPHA:891 |
Norrie Disease |
|
Microphthalmia, Hypoplasia of the iris |
OMIM:310600 |
Tangier Disease |
|
Hypocholesterolemia, Hypertriglyceridemia |
ORPHA:31150 |
3Q29 Microduplication Syndrome |
|
Microphthalmia, Aniridia, Craniosynostosis, Obesity, Camptodactyly of toe |
ORPHA:251038 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Microphthalmia |
ORPHA:370959 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Small for gestational age, Camptodactyly |
OMIM:618804 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris |
OMIM:604229 |
Ritscher-Schinzel Syndrome 3 |
|
Poorly ossified vertebrae, Microphthalmia, Epiphyseal stippling |
OMIM:619135 |
Joubert Syndrome 37 |
|
Obesity, Microphthalmia |
OMIM:619185 |
Matthew-Wood Syndrome |
|
Anophthalmia, Congenital diaphragmatic hernia, Microphthalmia, Failure to thrive |
ORPHA:2470 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Fanconi Anemia, Complementation Group S |
|
Failure to thrive, Microphthalmia |
OMIM:617883 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Joint contracture of the hand, Camptodactyly |
OMIM:611961 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Elevated circulating creatine kinase concentration, Buphthalmos, Microphthalmia |
OMIM:616538 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Decreased circulating copper concentration, Failure to thrive |
OMIM:300972 |
Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Diabetes mellitus, Hypertriglyceridemia |
ORPHA:98908 |
Glycogen Storage Disease Ia |
|
Hypoglycemia, Hyperlipidemia, Osteoporosis, Hyperuricemia, Xanthelasma |
OMIM:232200 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Microphthalmia |
ORPHA:85284 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia |
ORPHA:158048 |
Baraitser-Winter Syndrome 1 |
|
Failure to thrive, Microphthalmia |
OMIM:243310 |
Encephalocraniocutaneous Lipomatosis |
|
Microphthalmia, Hypoplasia of the iris, Lipoma, Subcutaneous lipoma, Multiple central nervous sys... |
OMIM:613001 |
Moebius Syndrome |
|
Microphthalmia, Arthrogryposis multiplex congenita, Camptodactyly |
OMIM:157900 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Microphthalmia, Camptodactyly of 2nd-5th fingers |
OMIM:206920 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Curry-Jones Syndrome |
|
Craniosynostosis, Microphthalmia |
ORPHA:1553 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Glycogen Storage Disease Ib |
|
Hypoglycemia, Hyperlipidemia, Osteoporosis, Hyperuricemia, Xanthelasma |
OMIM:232220 |
Chédiak-Higashi Syndrome |
|
Hypoproteinemia, Increased circulating ferritin concentration, Hyponatremia, Hypertriglyceridemia |
ORPHA:167 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Macular hypoplasia, Bilateral microph... |
ORPHA:2334 |
Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:615113 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Microphthalmia |
OMIM:152950 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Marden-Walker Syndrome |
|
Microphthalmia, Joint contracture of the hand, Camptodactyly, Inguinal hernia, Congenital contrac... |
OMIM:248700 |
19P13.12 Microdeletion Syndrome |
|
Obesity, Craniosynostosis, Arthrogryposis multiplex congenita, Hyperlipidemia |
ORPHA:254346 |
Curry-Jones Syndrome |
|
Craniosynostosis, Microphthalmia |
OMIM:601707 |
Wiedemann-Rautenstrauch Syndrome |
|
Failure to thrive, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy,... |
OMIM:264090 |
Focal Dermal Hypoplasia |
|
Omphalocele, Microphthalmia, Hypoplasia of the iris, Congenital diaphragmatic hernia, Abnormal de... |
ORPHA:2092 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Failure to thrive, Hiatus hernia, Hypoalbuminemia, Camptodactyly |
OMIM:617729 |
Joubert Syndrome 14 |
|
Microphthalmia |
OMIM:614424 |
Wiedemann-Rautenstrauch Syndrome |
|
Type II diabetes mellitus, Failure to thrive, Optic disc hypoplasia, Slender build, Reduced subcu... |
ORPHA:3455 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Decreased body weight, Microphthalmia |
OMIM:609053 |
Walker-Warburg Syndrome |
|
Anophthalmia, Abnormal circulating creatine kinase concentration, Microphthalmia |
ORPHA:899 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive |
OMIM:118450 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Congenital aphakia, Microphthalmia, Aniridia |
OMIM:610256 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Otodental Syndrome |
|
Lens coloboma, Microphthalmia, Abnormal dental enamel morphology |
ORPHA:2791 |
Trichothiodystrophy 1, Photosensitive |
|
Absence of subcutaneous fat, Microphthalmia, Small for gestational age, Flexion contracture |
OMIM:601675 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Microphthalmia |
OMIM:251230 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia |
ORPHA:79477 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Microphthalmia, Septo-optic dysplasia |
ORPHA:3301 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Coronal craniosynostosis, Microphthalmia |
ORPHA:228390 |
Momo Syndrome |
|
Abnormal bone ossification, Obesity, Bilateral microphthalmos, Large for gestational age |
ORPHA:2563 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Elevated circulating creatine kinase concentration, Buphthalmos, Microphthalmia, Congenital contr... |
OMIM:613150 |
Hydrolethalus |
|
Anophthalmia, Microphthalmia |
ORPHA:2189 |
Fetal Alcohol Syndrome |
|
Congenital diaphragmatic hernia, Microphthalmia |
ORPHA:1915 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Obesity, Bilateral microphthalmos |
OMIM:600122 |
Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, Microphthalmia, Hypoplasia of the iris, Small for gestational age, Joint contrac... |
OMIM:251300 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia |
ORPHA:494344 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Small for gestational age, Hypertriglyceri... |
OMIM:619573 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Umbilical hernia, Inguinal hernia |
ORPHA:2505 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Decreased plasma free carnitine, Hypoketotic hypoglycemia, Hyperlipidemia, Elevated circulating c... |
ORPHA:157 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Arthrogryposis-like hand anomaly, Bilateral microphthalmos, Umbilical hernia, Camptodactyly |
ORPHA:369891 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia, Camptodactyly of finger |
OMIM:616920 |
3P25.3 Microdeletion Syndrome |
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Microphthalmia, Knee flexion contracture |
ORPHA:435638 |
Solitary Median Maxillary Central Incisor |
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Anophthalmia, Microphthalmia |
OMIM:147250 |
Aapoaiv Amyloidosis |
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Elevated circulating creatinine concentration, Diabetes mellitus, Hyperlipidemia |
ORPHA:439232 |
Microphthalmia With Brain And Digit Anomalies |
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Anophthalmia, Microphthalmia |
ORPHA:139471 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Cortical thickening of long bone diaphyses, Hypocalcemic tetany, Hypocalcemic seizures, Calvarial... |
ORPHA:93325 |
Kapur-Toriello Syndrome |
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Failure to thrive, Microphthalmia |
ORPHA:2328 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Anophthalmia, Microphthalmia |
OMIM:615877 |
Combined Deficiency Of Factor V And Factor Viii |
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Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Holoprosencephaly |
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Omphalocele, Hyponatremia, Failure to thrive in infancy, Microphthalmia, Hypoglycemia, Anophthalm... |
ORPHA:2162 |
Steinert Myotonic Dystrophy |
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Hypercholesterolemia, Hyperinsulinemia, Diabetes mellitus, Insulin resistance |
ORPHA:273 |
Oculofaciocardiodental Syndrome |
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Flexion contracture of the 4th toe, Flexion contracture of the 2nd toe, Microphthalmia |
ORPHA:2712 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Failure to thrive, Microphthalmia, Abnormal dental enamel morphology |
OMIM:257850 |
Chromosome 17Q12 Duplication Syndrome |
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Microphthalmia |
OMIM:614526 |
Meckel Syndrome, Type 5 |
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Microphthalmia |
OMIM:611561 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Microphthalmia, Small for gestational age, Camptodactyly |
OMIM:619148 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
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Microphthalmia |
ORPHA:404440 |
Refsum Disease |
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Microphthalmia |
ORPHA:773 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
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Microphthalmia |
ORPHA:163966 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Warburg Micro Syndrome 2 |
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Microphthalmia, Flexion contracture |
OMIM:614225 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
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Optic nerve hypoplasia, Bilateral microphthalmos |
OMIM:607597 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:77298 |
Vitreoretinochoroidopathy |
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Microphthalmia |
OMIM:193220 |