Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology |
ORPHA:2398 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity, Delayed puberty |
ORPHA:140941 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... |
OMIM:612526 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased hepatic glycogen content, Hypoketotic hypoglycemia, Truncal obesity, Large for gestatio... |
ORPHA:293964 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus |
OMIM:613375 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Lipoatrophy, Hepatomegaly, Diabetes mellitus, Insulin resistance,... |
ORPHA:79084 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608631 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... |
OMIM:604367 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... |
OMIM:615980 |
Autism, Susceptibility To, 20 |
|
Impaired social interactions |
OMIM:618830 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Lipodystrophy, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... |
ORPHA:2457 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity |
OMIM:614662 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... |
ORPHA:181393 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Large for gestational age, Truncal obesity |
OMIM:240900 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... |
OMIM:608600 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia |
OMIM:601410 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia, Increa... |
ORPHA:79085 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Lipoatrophy |
ORPHA:79087 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane... |
ORPHA:435660 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... |
OMIM:601820 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Optic atrophy, Spastic gait, Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... |
ORPHA:171706 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Proportionate t... |
ORPHA:528 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
ORPHA:363400 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... |
ORPHA:71212 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300425 |
Autism |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608636 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Dysplastic corpus callosum, Polymicrogyria, Hypoplasia of the corpus callosum, Par... |
OMIM:604213 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... |
OMIM:617885 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Maturit... |
ORPHA:324575 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Ataxia, Agenesis of corpus callosum, Macular degeneration, Death in infancy |
ORPHA:85334 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Flexion contracture, Lipodystrophy, Elevated hepatic transaminase, Hypertriglycerid... |
OMIM:615381 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age |
OMIM:618858 |
Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:276575 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Failure to thrive, Ataxia, Dysplastic corpus callosum, Inability to walk, Microcephaly, Motor axo... |
OMIM:618276 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Ventriculomegaly, Mild mal... |
ORPHA:500166 |
Pparg-Related Familial Partial Lipodystrophy |
|
Lipoatrophy, Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Maternal diabetes, Loss of faci... |
ORPHA:79083 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:276580 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Lipoatrophy, Pancreatitis, Cellulitis, Hepatomegaly, Splenomegaly, Lipodystrophy, Hypertriglyceri... |
ORPHA:2348 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Lipoatrophy, Pancreatitis, Hyperlipidemia, Splenomegaly, Cirrhosis, Li... |
ORPHA:90970 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... |
OMIM:606762 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Lissencephaly 4 |
|
Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpocephaly, Agenesis of corpus c... |
OMIM:614019 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Generalized ... |
ORPHA:79086 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hepatomegaly, Jaundice, Hypoproteinemia, Small for gestational age, Hyperammonemia,... |
ORPHA:26793 |
Bowen Syndrome Of Multiple Malformations |
|
Failure to thrive, Death in childhood, Agenesis of corpus callosum, Developmental glaucoma |
OMIM:211200 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... |
ORPHA:2298 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... |
ORPHA:250972 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... |
OMIM:151660 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket... |
ORPHA:276556 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia, Overgrowth, Lipodystrophy, Increased adipose tissue, Insulin resistance |
ORPHA:199276 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... |
OMIM:610947 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Flexion contracture, Hyperglycemia, Reduced C-peptide level |
OMIM:618856 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Pancr... |
ORPHA:280365 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Shyness |
OMIM:618221 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Hepatic ... |
ORPHA:435651 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
Congenital Hydrocephalus |
|
Hydrocephalus, Small cerebral cortex, Abnormal cortical gyration, Optic atrophy, Iris coloboma, L... |
ORPHA:2185 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... |
OMIM:616033 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level |
OMIM:610768 |
Mucolipidosis Iv |
|
Cerebral dysmyelination, Corneal opacity, Dysplastic corpus callosum, Retinal degeneration, Micro... |
OMIM:252650 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Elevated ci... |
OMIM:613327 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure |
ORPHA:871 |
Hyperostosis Frontalis Interna |
|
Increased circulating prolactin concentration, Obesity, Diabetes mellitus |
OMIM:144800 |
Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... |
OMIM:611819 |
Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Weight loss, Abnormal dent... |
ORPHA:3163 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Joint contracture of the hand, Flexion contracture, Small for gestational age,... |
OMIM:214150 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Chole... |
OMIM:246200 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Neonatal hyperbilirubinemia, Small for gestational age, Truncal obesity, Hypog... |
ORPHA:73272 |
Growth Factors, Combined Defect Of |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin-resistant diabetes mellitus, Flexion ... |
OMIM:233805 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... |
OMIM:262190 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Abnormal... |
ORPHA:263455 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Progressive language deterioration, Mental deterioration, ... |
ORPHA:168782 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Neoplasm of the liver, Hypophosphatemic rickets, Hypoinsulinemia, Abnormality of the peritoneum, ... |
ORPHA:2126 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... |
OMIM:609734 |
Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia, Tall stature |
OMIM:618406 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
Temple Syndrome |
|
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... |
OMIM:616222 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Small for gestational age |
OMIM:618857 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Diabetes mel... |
OMIM:615830 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Increased body weight, Elevated hepatic transaminase, Ele... |
ORPHA:94086 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin, Hypogonadism, Obesity |
ORPHA:791 |
Placental Insufficiency |
|
Insulin resistance, Small for gestational age |
ORPHA:439167 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Cortical dysplasia, Polymicrog... |
ORPHA:300573 |
Brugada Syndrome 9 |
|
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval |
OMIM:616399 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, ... |
ORPHA:2089 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Microcephaly, Neonatal death, Abnormal cortical gyration, Polymicrogyria, Aplasia/Hypoplasia of t... |
OMIM:619602 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu... |
OMIM:608612 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Long Qt Syndrome 14 |
|
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... |
OMIM:616247 |
Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increa... |
OMIM:615954 |
Autism, Susceptibility To, X-Linked 2 |
|
Lack of peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300495 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Impaired vibration sensation in the lower limbs, Hypoplasia of the corpus callosum, Difficulty wa... |
ORPHA:401815 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave |
OMIM:614049 |
Central Neurocytoma |
|
Ataxia, Pain insensitivity, Hydrocephalus, Cerebral calcification, Paresthesia, Abnormal lateral ... |
ORPHA:73256 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Seckel Syndrome 10 |
|
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... |
OMIM:617253 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity |
ORPHA:3085 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Flexion contracture, Atrial standstill, Palpitations,... |
ORPHA:1344 |
Brugada Syndrome 3 |
|
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... |
OMIM:274300 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Increased serum testosterone lev... |
ORPHA:769 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Hypoglycemia, Pancreatic hypoplasia, Diab... |
OMIM:609069 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... |
ORPHA:436182 |
Short Syndrome |
|
Glucose intolerance, Lipoatrophy, Inguinal hernia, Small for gestational age, Lipodystrophy, Insu... |
OMIM:269880 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... |
ORPHA:189427 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Decreased body weight, Optic nerve hypoplasia, Microcephaly, Polymicr... |
OMIM:614833 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... |
ORPHA:189439 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:248370 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Generalized lipodystrophy, Calcinosis, Delayed puberty, Insulin resistance |
ORPHA:90154 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... |
ORPHA:79237 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Hypoesthesia, Impaired vibratory sensation, Optic disc pallor, Retrob... |
OMIM:619737 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Werner Syndrome |
|
Slender build, Type II diabetes mellitus, Lipoatrophy, Thyroid carcinoma, Chondrocalcinosis, Lipo... |
ORPHA:902 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ataxia, Decreased body weight, Hypoplasia of the corpus callosum, Corticospinal tract hypoplasia,... |
ORPHA:255138 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity, Joint contracture of the hand, Camptodactyly |
OMIM:264010 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Gait imbalance, Abnormal lateral ventricle morphology, Gait ataxia, Hypoplasia of the corpus call... |
ORPHA:488635 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Impai... |
OMIM:606069 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Decreased body weight |
ORPHA:324422 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Hepatomegaly, Hepatic failure, I... |
ORPHA:2088 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... |
ORPHA:90301 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Microcephaly, Peripheral axonal neuropathy, Optic disc hypoplasia, Co... |
OMIM:619955 |
Perlman Syndrome |
|
Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Tall stature, Inguinal hernia, Femo... |
ORPHA:2849 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration |
OMIM:144600 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia necrosis, Ataxia, Inability to walk, Cerebral atrophy, Small for gestational age, B... |
ORPHA:79243 |
Aromatase Deficiency |
|
Type II diabetes mellitus, Hyperlipidemia, Eunuchoid habitus, Tall stature, Hypergonadotropic hyp... |
ORPHA:91 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Increased body weight, Ja... |
ORPHA:890 |
Brugada Syndrome 7 |
|
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
OMIM:608594 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Glucose intolerance, Failure to thrive, Small for gestationa... |
OMIM:606721 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Hyperglycemia |
OMIM:520000 |
Monosomy 13Q34 |
|
Insulin resistance, Obesity, Hepatic steatosis, Infantile hypercalcemia |
ORPHA:96168 |
Bardet-Biedl Syndrome 2 |
|
Obesity, Hypogonadism, Diabetes mellitus |
OMIM:615981 |
Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Abnormal circulating lipid concentration, Truncal obesity, Hypothyroidism, Diabe... |
OMIM:616541 |
Silver-Russell Syndrome |
|
Precocious puberty, Cachexia, Hyperhidrosis, Insulin resistance, Recurrent hypoglycemia, Prematur... |
ORPHA:813 |
Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Inguinal hernia, Abnormal circulating lipid concentration, Biliary tra... |
ORPHA:3191 |
Leprechaunism |
|
Postprandial hyperglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Hyperinsuline... |
ORPHA:508 |
Mehmo Syndrome |
|
Obesity, Diabetes mellitus |
ORPHA:85282 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Impaired sensitivity to thyroid hormone, Increased body mass index, Congenital hypothyroidism, In... |
OMIM:614450 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Gait imbalance, Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cereb... |
ORPHA:488627 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Testicular atrophy, Cholangiocarcinoma, Decreased s... |
ORPHA:465508 |
Short Qt Syndrome 1 |
|
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... |
OMIM:609620 |
Halothane Hepatitis |
|
Viral hepatitis, Eosinophilia, Hepatitis, Obesity, Jaundice |
OMIM:234350 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid... |
OMIM:220111 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
Halperin-Birk Syndrome |
|
Failure to thrive, Inability to walk, Death in childhood, Optic atrophy, Developmental cataract, ... |
OMIM:618651 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... |
OMIM:269700 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Leukoencephalopathy, Dysplastic corpus callosum, Failure to thrive, Hypoplasia of the corpus call... |
OMIM:614924 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... |
OMIM:618620 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Pituitary ... |
OMIM:614963 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Failure to thrive, Ataxia, Hydrocephalus, Periventricular leukomalacia, Microcephaly, Retinal det... |
OMIM:619833 |
Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance, Reduced subcutaneous adipose tissue |
OMIM:619322 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Obesity, Precocious puberty, Hypercholesterolemia |
ORPHA:254531 |
Temple Syndrome |
|
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
Mpi-Cdg |
|
Failure to thrive, Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypothy... |
ORPHA:79319 |
Laurence-Moon Syndrome |
|
Obesity, Type II diabetes mellitus, Congenital hepatic fibrosis |
ORPHA:2377 |
Whipple Disease |
|
Hepatomegaly, Splenomegaly, Cachexia, Hypothyroidism, Hyponatremia, Insulin resistance |
ORPHA:3452 |
Bardet-Biedl Syndrome 9 |
|
Obesity, Truncal obesity, Hyperglycemia |
OMIM:615986 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Retinal dysplasia, Anencephaly, Opacification of the corneal stroma, Cortical dysp... |
OMIM:615287 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Alg2-Cdg |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Hypoplasia of the corpus callosum, Lat... |
ORPHA:79326 |
Hsd10 Disease |
|
Gait disturbance, Ataxia, Choreoathetosis, Abnormal social behavior |
ORPHA:391417 |
Bardet-Biedl Syndrome 1 |
|
Abdominal obesity, Nephrogenic diabetes insipidus, Truncal obesity, Biliary tract abnormality, He... |
OMIM:209900 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Glucose intolerance, Hepatomegaly, Hepatic failure, Splenomegaly, Cholestasis, Impaired glucose t... |
OMIM:615630 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
Macrosomia Adiposa Congenita |
|
Large for gestational age, Obesity, Eosinophilia |
OMIM:248100 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Obesity, Hypogonadotropic hypogonadism, Absence of pubertal development, Diabetes mellitus |
OMIM:610628 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hepatomegaly, Glycosuria, Hypoglycemia, Large for gestational age, Elevated hep... |
OMIM:616026 |
Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglyc... |
OMIM:175700 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Abnormality of the thyroid gland, Hypothyroidism, Hyperurice... |
ORPHA:77296 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Type II diabetes mellitus, Abnormality of the thyroid gland, Eunuchoid habitus, Hypogonadism, Obe... |
ORPHA:2234 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Optic atrophy, Iris coloboma, Lissencephaly, Ventriculomegaly, Macul... |
OMIM:615219 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase co... |
ORPHA:264580 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Pachygyria, Colpocephaly |
OMIM:614870 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Failure to thrive, Flexion contracture, Decreased serum iron, Hypothyroidism, Diabetes mellitus, ... |
ORPHA:391372 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Poor eye contact, Abnormal social behavior |
ORPHA:444002 |
Narcolepsy 7 |
|
Obesity, Type II diabetes mellitus |
OMIM:614250 |
Central Precocious Puberty |
|
Premature thelarche, Isosexual precocious puberty, Overgrowth, Increased body weight, Increased c... |
ORPHA:759 |
Fanconi Anemia, Complementation Group I |
|
Decreased body weight, Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum, Astigma... |
OMIM:609053 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Increased body weight, Hepatocellula... |
ORPHA:79240 |
Proprotein Convertase 1/3 Deficiency |
|
Reactive hypoglycemia, Obesity, Decreased circulating cortisol level |
OMIM:600955 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co... |
ORPHA:230 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Dysplastic corpus callosum, Peripheral axonal neuropathy, Developmental cataract |
OMIM:618810 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Goiter, Insulin-resistant diabetes mellitus, Small for gestational... |
OMIM:210740 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Ataxia, Dysplastic corpus callosum, Inability to walk, Abnormal cornea morphology, Dilated fourth... |
ORPHA:357058 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Glucose intolerance, Failure to thrive, Type II diabetes mellitus, Grav... |
ORPHA:358 |
Dopa-Responsive Dystonia |
|
Inability to walk, Abnormal social behavior, Fatigable weakness, Gait disturbance, Difficulty wal... |
ORPHA:255 |
Unilateral Focal Polymicrogyria |
|
Mental deterioration, Abnormal nonverbal communicative behavior, Memory impairment |
ORPHA:268947 |
Alstrom Syndrome |
|
Hyperinsulinemia, Hepatomegaly, Decreased response to growth hormone stimulation test, Chronic ac... |
OMIM:203800 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Microcephaly, Death in childhood, Dysplastic corpus callosum, Failure to thrive |
OMIM:604273 |
Pontocerebellar Hypoplasia Type 2 |
|
Dysplastic corpus callosum, Abnormal cortical gyration, Hypoplasia of the corpus callosum, Choreo... |
ORPHA:2524 |
Autism, Susceptibility To, 3 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608049 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Failure to thrive, Dysplastic corpus callosum, Death in childhood, Death in infancy, Secondary mi... |
OMIM:619423 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia, Flexion contracture |
ORPHA:90153 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, H... |
ORPHA:412 |
Brugada Syndrome 5 |
|
Bundle branch block, ST segment elevation, Ventricular fibrillation |
OMIM:612838 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hepatic failure, Steatorrhea, Cir... |
OMIM:602579 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Dysplastic corpus callosum |
OMIM:601016 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block |
OMIM:609438 |
Bloom Syndrome |
|
Abdominal obesity, Small for gestational age, Adipose tissue loss, Diabetes mellitus, Insulin res... |
ORPHA:125 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Small for gestational age, Maturity-onset diabetes of the young, Truncal obes... |
ORPHA:96184 |
Kapur-Toriello Syndrome |
|
Failure to thrive, Dysplastic corpus callosum, Retinal coloboma, Polymicrogyria, Iris coloboma, P... |
ORPHA:2328 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Loss of ambulation, Cerebral atrophy, Tip-toe gait, Decreased nerve conduction velocity, Microcep... |
ORPHA:565624 |
Cach Syndrome |
|
Optic neuritis, Dysgyria, Cerebral atrophy, Dysmetria, Limb ataxia, Microcephaly, Truncal ataxia,... |
ORPHA:135 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Tall stature, Absence of pubertal development, Absence of ... |
ORPHA:785 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Small basal ganglia, Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callo... |
OMIM:616900 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Inability to walk, Frontal cortical atrophy, Cerebral cortical atrophy, Retinal degenerat... |
ORPHA:2822 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal basal ganglia morphology, Inability to walk, Small basal ganglia, Normal pressure hydroc... |
ORPHA:300570 |
Malan Overgrowth Syndrome |
|
Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Optic disc pallor, Ventriculomeg... |
ORPHA:420179 |
Unilateral Hemispheric Polymicrogyria |
|
Cerebral hypoplasia, Cortical dysplasia, Lateral ventricle dilatation, Thick cerebral cortex |
ORPHA:101071 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Failure to thrive, Precocious puberty, Decreased response to growth hormone stimulation test, Sma... |
ORPHA:96182 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Hyperbilirubinemia, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent... |
OMIM:615710 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Cerebral atrophy, Tip-toe gait, Dilated third ventricle, Astigmatism, Partial agenesis of the cor... |
OMIM:617296 |
Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Cholestatic liver disease, Inguinal hernia, Flexion contracture, Stea... |
ORPHA:440713 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... |
ORPHA:86816 |
Necrotizing Enterocolitis |
|
Small for gestational age, Peritonitis, Hyponatremia, Abnormal glucose homeostasis, Hyperglycemia |
ORPHA:391673 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Lower-limb joint contracture, Glycosuria, Neonatal insulin-dependent diabetes ... |
ORPHA:99885 |
X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior, Dementia, Memory impairment, Semantic dementia |
ORPHA:1020 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Simplified gyral pattern, Microcephaly, Dysplastic corpus callosum, Failure to thrive |
OMIM:620001 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma, Episodic hypokalemia, Mildly elevated creatin... |
ORPHA:681 |
Wilson Disease |
|
Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis,... |
ORPHA:905 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Obesity, Congenital hypothyroidism, Diabetes mellitus |
OMIM:614613 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... |
ORPHA:209902 |
Bardet-Biedl Syndrome 6 |
|
Obesity, Diabetes mellitus |
OMIM:605231 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Attrv122I Amyloidosis |
|
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Arrhythmia... |
ORPHA:85451 |
Coronary Arterial Fistula |
|
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... |
ORPHA:2041 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Hypoalbuminemia |
ORPHA:88643 |
Smith-Kingsmore Syndrome |
|
Hypoglycemia, Large for gestational age, Umbilical hernia |
OMIM:616638 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, V... |
OMIM:619179 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Overweight, Hypercholesterolemia |
ORPHA:401923 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly |
OMIM:618619 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Pancreatic Agenesis 1 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitu... |
OMIM:260370 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Small for gestational age, Microcephaly, Dilated fourth ventricle, Optic atrophy, Lateral ventric... |
ORPHA:3078 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Difficulty walking, Shyness |
ORPHA:280763 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Difficulty walking, Cerebral cortical hemiatrophy |
ORPHA:306669 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hyperammonemia, Hypoglycemia, Hyperuricemia, Weight loss, Hyperglycemia |
ORPHA:134 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Lissencephaly, Primary microceph... |
ORPHA:284417 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abdominal obesity, Glucose intolerance, Pituitary adenoma, Hypokalemia, Increased circulating ACT... |
OMIM:219090 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Leukoencephalopathy, Ataxia, Cerebral atrophy, Dysmetria, Rod-cone dystrophy, Dilated fourth vent... |
ORPHA:572798 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... |
ORPHA:75565 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestational age, Ele... |
ORPHA:226313 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation, Scissor gait |
ORPHA:363654 |
Oculocerebrodental Syndrome |
|
Dysplastic corpus callosum, Developmental cataract, Focal white matter lesions |
ORPHA:557003 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Reduced circulating prol... |
OMIM:300888 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Microcephaly, Colpocephaly, Polymicrogyria |
OMIM:618731 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Leukoencephalopathy, Cerebral atrophy, Microcephaly, Chorea, Hypoplasia of the corpus callosum, A... |
ORPHA:178469 |
Slc35A2-Cdg |
|
Inability to walk, Cerebral atrophy, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus c... |
ORPHA:356961 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... |
ORPHA:98855 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Hyperlysinemia, Hepatomegaly, Hyperammonemia, Increased serum pyruvate, Hypera... |
ORPHA:3008 |
Atypical Werner Syndrome |
|
Failure to thrive, Hyperinsulinemia, Type II diabetes mellitus, Decreased body weight, Lipoatroph... |
ORPHA:79474 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Decreased ci... |
ORPHA:99832 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Obesity, Pseudoh... |
OMIM:603233 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... |
OMIM:619755 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Absent septum pellucidum, Microcephaly, Pigmentary retinopathy, Peters anomaly, Ir... |
OMIM:309801 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Cushing Disease |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, In... |
ORPHA:96253 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Lateral ventricle dilatation |
ORPHA:77299 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypothyroidism, Hypopituitarism, Hyperglycemia, Hypercholesterolemia |
ORPHA:90065 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Enamel hypoplasia, Hypothyroidism, Hypocalcemic t... |
OMIM:612462 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Failure to thrive, Abnormal basal ganglia morphology, Subretinal deposits, Open operculum, Dilate... |
ORPHA:397715 |
Sotos Syndrome |
|
Glucose intolerance, Tall stature, Overgrowth, Prolonged neonatal jaundice, Neonatal hypoglycemia... |
OMIM:117550 |
Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Hypomagnesemia, Graves disease, Hyperthyroidism, Episodic hypokalemia... |
ORPHA:79102 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Prolonged ne... |
ORPHA:226307 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Increased body weight, Abnormality of the thyroid gland, Hypercholesterolemia |
OMIM:182290 |
Steinert Myotonic Dystrophy |
|
Secondary hyperparathyroidism, Cholelithiasis, Testicular atrophy, Hyperinsulinemia, Decreased se... |
ORPHA:273 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Precocious puberty, Flexion cont... |
ORPHA:398069 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inability to walk, Cerebral atrophy, Cavum septum pellucidum, Microcephaly, Dilated third ventric... |
ORPHA:464738 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Thick corpus callosum, Dysplastic corpus callosum, Dilated third ventricle, Large for gestational... |
ORPHA:544488 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Overgrowth, Large for gestational age, Umbilical hernia, Omphalocele |
ORPHA:254534 |
Sheehan Syndrome |
|
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... |
ORPHA:91355 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:98754 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Precocious puberty, Small pituit... |
ORPHA:398079 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Cavum septum pellucidum, Astigmatism, Abnormal cerebral white matter morphology, Lateral ... |
ORPHA:457279 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:98793 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Failure to thrive, Congenital diaphragmatic hernia, Inguinal hernia, Biliary atresia, Glycosuria,... |
OMIM:600001 |
Cerebrofacioarticular Syndrome |
|
Ataxia, Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, Ventriculome... |
ORPHA:314679 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:177901 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Female hypogonadism, Delayed menarche, Pubertal developmental failure i... |
ORPHA:740 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... |
ORPHA:99889 |
Lamb-Shaffer Syndrome |
|
Ataxia, Abnormal social behavior |
ORPHA:530983 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Astigmatism, Ventriculomegaly, Colpoce... |
ORPHA:261250 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Colpocephaly, Agenesis of corp... |
OMIM:617260 |
Distal Monosomy 10Q |
|
Facial diplegia, Failure to thrive, Ataxia, Cavum septum pellucidum, Microcephaly, Astigmatism, L... |
ORPHA:96148 |
Alström Syndrome |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Hypergo... |
ORPHA:64 |
Dend Syndrome |
|
Elevated hemoglobin A1c, Hyperglycemia |
ORPHA:79134 |
Khan-Khan-Katsanis Syndrome |
|
Corneal scarring, Failure to thrive, Buphthalmos, Microcephaly, Pigmentary retinopathy, Peters an... |
OMIM:618460 |
Septo-Optic Dysplasia Spectrum |
|
Abnormality of the hypothalamus-pituitary axis, Maternal diabetes, Hypohidrosis, Obesity, Anterio... |
ORPHA:3157 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Adrenocorticotropic hormone deficiency, Hyperlipidemia, Decreased response to growth hormone stim... |
ORPHA:293987 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased circulating renin level, Cholecystitis, Hypertriglyceridemia, Hyperur... |
ORPHA:90041 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Microcephaly, Dysplastic corpus callosum, Focal polymicr... |
OMIM:619103 |
Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation, Microcephaly, Diffuse white matter abnormalities, Hypoplasia of the... |
ORPHA:208447 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Abnormal caudate nucleus morphology, Hypoplasia of the corpus callosum, Cerebral white matter atr... |
ORPHA:2148 |
Metachromatic Leukodystrophy, Adult Form |
|
Progressive psychomotor deterioration, Abnormal social behavior, Memory impairment, Difficulty wa... |
ORPHA:309271 |
Pmm2-Cdg |
|
Failure to thrive, Multiple joint contractures, Hyperinsulinemia, Elevated circulating growth hor... |
ORPHA:79318 |
Spondyloenchondrodysplasia |
|
Cerebral calcification, Chorea, Abnormal periventricular white matter morphology, Ventriculomegal... |
ORPHA:1855 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Shyness |
OMIM:300978 |
Prader-Willi Syndrome |
|
Abdominal obesity, Adrenal insufficiency, Hyperinsulinemia, Type II diabetes mellitus, Precocious... |
OMIM:176270 |
Craniopharyngioma |
|
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Hypogonadotro... |
ORPHA:54595 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Obesity, Precocious puberty, Type I diabetes mellitus, Dentinogenesis imperfecta |
OMIM:619269 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Shyness |
OMIM:300801 |
Cog5-Cdg |
|
Microcephaly, Truncal ataxia, Cerebral white matter atrophy, Diffuse cerebral atrophy, Lateral ve... |
ORPHA:263487 |
6Q Terminal Deletion Syndrome |
|
Failure to thrive, Dysmetria, Polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebra... |
ORPHA:75857 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Progressive gait ataxia, Progressive psychomotor deterioration, Abnormal social behavior |
ORPHA:309263 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Ventriculomegaly |
ORPHA:363444 |
Holoprosencephaly 13, X-Linked |
|
Optic nerve hypoplasia, Microcephaly, Septo-optic dysplasia, Colpocephaly, Agenesis of corpus cal... |
OMIM:301043 |
Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... |
ORPHA:3464 |
Mosaic Trisomy 1 |
|
Lateral ventricle dilatation, Opacification of the corneal stroma, Agenesis of corpus callosum, P... |
ORPHA:1692 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Tip-toe gait, Gait ataxia, Progressive gait ataxia, Abnormal social behavior |
ORPHA:309256 |
Early-Onset Schizophrenia |
|
Lack of peer relationships, No social interaction, Shyness, Cognitive impairment |
ORPHA:96369 |
X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation, Microcephaly |
ORPHA:85290 |
X-Linked Intellectual Disability, Cilliers Type |
|
Shyness |
ORPHA:163971 |
Acrodysostosis With Multiple Hormone Resistance |
|
Elevated calcitonin, Hypocalcemia, Decreased response to growth hormone stimulation test, Elevate... |
ORPHA:280651 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618569 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Absent septum pellucidum, Polymicrogyria, Astigmatism, Secondary micr... |
OMIM:618820 |
Beckwith-Wiedemann Syndrome |
|
Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Congenital diaphra... |
ORPHA:116 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Cholestatic liver disease, Hype... |
ORPHA:99413 |
Turner Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Cholestatic liver disease, Hype... |
ORPHA:881 |
Mosaic Monosomy X |
|
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Cholestatic liver disease, Hype... |
ORPHA:99228 |
Monosomy X |
|
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Cholestatic liver disease, Hype... |
ORPHA:99226 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Overfriendliness, Ataxia |
ORPHA:369891 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m... |
ORPHA:293725 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Exocrine pancreatic insufficiency, Hepatomegaly, He... |
OMIM:619991 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Scorpion Envenomation |
|
Hypokalemia, Increased circulating NT-proBNP concentration, Elevated circulating aspartate aminot... |
ORPHA:466677 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Dysmetria, Abnormal social behavior, Nonprogressive cerebellar ataxia, Memory impairment,... |
ORPHA:314647 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Overfriendliness |
OMIM:619293 |
Smith-Lemli-Opitz Syndrome |
|
Failure to thrive, Hydrocephalus, Hypoplasia of the frontal lobes, Microcephaly, Hypoplasia of th... |
OMIM:270400 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Impaired social interactions, Poor eye contact, Shyness |
ORPHA:449291 |
Childhood Absence Epilepsy |
|
Abnormal social behavior |
ORPHA:64280 |
Cri-Du-Chat Syndrome |
|
Overfriendliness, Difficulty walking |
OMIM:123450 |
Fg Syndrome Type 1 |
|
Broad-based gait, Abnormal social behavior |
ORPHA:93932 |
48,Xxxy Syndrome |
|
Abnormal social behavior |
ORPHA:96263 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Overfriendliness, Gait ataxia |
OMIM:616579 |
Carney Complex |
|
Abdominal obesity, Increased circulating insulin-like growth factor 1 concentration, Pituitary gr... |
ORPHA:1359 |
Zttk Syndrome |
|
Failure to thrive, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Optic atrophy, ... |
OMIM:617140 |
Choreoacanthocytosis |
|
Loss of ambulation, Cerebral cortical atrophy, Frontal cortical atrophy, Small basal ganglia, Abn... |
ORPHA:2388 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Progressive ventriculomegaly, Optic nerve hypoplasia, Polymicrogyria,... |
ORPHA:500150 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypothyroidism, Obesity, Decreased response to growth hormone stimulation test, Hyperglycemia |
ORPHA:444077 |
49,Xxxxy Syndrome |
|
Overfriendliness, Shyness |
ORPHA:96264 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Thick corpus callosum, Ataxia, Dysplastic corpus callosum, Slender build |
OMIM:300967 |
Niemann-Pick Disease Type C |
|
Ataxia, Abnormal social behavior, Mental deterioration, Cognitive impairment, Progressive neurolo... |
ORPHA:646 |
Prader-Willi Syndrome Due To Translocation |
|
Cerebral cortical atrophy, Stellate iris, Microcephaly, Iris hypopigmentation, Lateral ventricle ... |
ORPHA:177907 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Inability to walk, Large basal ganglia, Microcornea, Hypoplasia of the corpus callosum, Polymicro... |
ORPHA:261552 |
White-Sutton Syndrome |
|
Overfriendliness, Waddling gait |
OMIM:616364 |
Luscan-Lumish Syndrome |
|
Shyness |
OMIM:616831 |
White-Kernohan Syndrome |
|
Obesity, Dysplastic corpus callosum |
OMIM:619426 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Slender build, Failure to thrive, Ataxia, Dysplastic corpus callosum, Hypoplasia of the corpus ca... |
ORPHA:466791 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Failure to thrive, Inability to walk, Aganglionic megacolon, Large basal gangli... |
ORPHA:261537 |
Koolen-De Vries Syndrome |
|
Overfriendliness |
ORPHA:96169 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Abnormal social behavior |
ORPHA:1675 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cerebral white matter hypoplasia, Colpocephaly, Hypoplasia of the corpus callosum |
ORPHA:477993 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
Witteveen-Kolk Syndrome |
|
Dysplastic corpus callosum, Small for gestational age, Microcephaly, Anisocoria, Cortical dysplas... |
OMIM:613406 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal nonverbal communicative behavior |
ORPHA:485421 |
Hellp Syndrome |
|
Increased body weight, Elevated hepatic transaminase |
ORPHA:244242 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Corneal scarring, Failure to thrive, Cataract, Obesity, Abnormal lateral ventricle morphology, Se... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Corneal scarring, Failure to thrive, Cataract, Obesity, Abnormal lateral ventricle morphology, Se... |
ORPHA:353277 |
Genitopatellar Syndrome |
|
Microcephaly, Colpocephaly, Agenesis of corpus callosum |
OMIM:606170 |
Trichothiodystrophy |
|
Impaired social reciprocity, Gait ataxia |
ORPHA:33364 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Overfriendliness, Abnormal social behavior |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Overfriendliness, Abnormal social behavior |
ORPHA:363958 |
Orofaciodigital Syndrome V |
|
Overfriendliness |
OMIM:174300 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Hair-pulling |
OMIM:616393 |
Mend Syndrome |
|
Abnormal social behavior |
ORPHA:401973 |
Van Esch-O'Driscoll Syndrome |
|
Poor eye contact, Shyness |
OMIM:301030 |
Williams Syndrome |
|
Overfriendliness, Gait imbalance, Ataxia, Dysmetria, Abnormal social behavior, Gait disturbance |
ORPHA:904 |
1P21.3 Microdeletion Syndrome |
|
Shyness |
ORPHA:293948 |
Tuberous Sclerosis Complex |
|
Abnormal social behavior |
ORPHA:805 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling |
ORPHA:447997 |
Monosomy 22Q13.3 |
|
Hair-pulling |
ORPHA:48652 |