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 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I 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 |
|
Type II diabetes mellitus, Transient neonatal 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 |
|
Abnormal adipose tissue morphology, Hepatomegaly, Multiple lipomas, Insulin resistance |
ORPHA:2398 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... |
OMIM:615980 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Increased waist to hip ratio, Insulin resistance |
OMIM:125853 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity, Insulin resistance |
ORPHA:140941 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... |
ORPHA:293964 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized... |
OMIM:612526 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... |
OMIM:615703 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... |
ORPHA:99886 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight |
OMIM:613375 |
Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... |
OMIM:606721 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Diabetes mellitus... |
ORPHA:79084 |
Autism, Susceptibility To, 20 |
|
Impaired social interactions |
OMIM:618830 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:2457 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Insulin resistance |
OMIM:614662 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age, Neonatal hypoglycemia |
OMIM:240900 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failure to thriv... |
ORPHA:181393 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Obes... |
ORPHA:71529 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu... |
OMIM:608600 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Severe failure to thrive, Transient neonatal diabetes mellitus |
OMIM:601410 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... |
ORPHA:79085 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance |
OMIM:612227 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lipoatrophy, Insulin resistance |
ORPHA:79087 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... |
ORPHA:435660 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:614296 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... |
ORPHA:71526 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors |
OMIM:608631 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Mody |
|
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... |
ORPHA:552 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... |
OMIM:601820 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... |
ORPHA:280356 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Optic atrophy, Spastic gait, Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
OMIM:613162 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Precocious puberty in females, Insulin resistance, Failure to thrive, Lipodystrophy... |
ORPHA:528 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity, Hyperlipidemia, Insulin resistance |
OMIM:617885 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dystonia, Dysplastic corpus callosum, Failure to thrive, Ataxia, Inability to walk, Microcephaly |
OMIM:618276 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... |
ORPHA:363400 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Abn... |
ORPHA:71212 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concen... |
OMIM:604367 |
Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Ventriculomegaly, Polymicrog... |
OMIM:604213 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Ataxia, Death in infancy, Agenesis of corpus callosum, Macular degeneration |
ORPHA:85334 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestat... |
ORPHA:324575 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis, Diabetes mellit... |
OMIM:615381 |
Insulinomatosis And Diabetes Mellitus |
|
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:147630 |
Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... |
ORPHA:276575 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus, Small for gestational age |
OMIM:618858 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior, Hyperactivity |
ORPHA:436151 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... |
ORPHA:79083 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Pa... |
ORPHA:2348 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... |
ORPHA:276580 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Attention deficit hyperactivity disorder, Shyness, Gait ataxia |
OMIM:618221 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Pancreatitis, Splen... |
ORPHA:90970 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Bowen Syndrome Of Multiple Malformations |
|
Failure to thrive, Developmental glaucoma, Agenesis of corpus callosum, Death in childhood |
OMIM:211200 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... |
ORPHA:79086 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... |
ORPHA:2298 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Hepatomegaly, Hypoketotic hypoglycemia, Small for gestational age, Elevated circ... |
ORPHA:26793 |
Bardet-Biedl Syndrome 6 |
|
Obesity, Diabetes mellitus |
OMIM:605231 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Small for gestational age, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Obesity |
|
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio |
OMIM:601665 |
Familial Multiple Lipomatosis |
|
Increased adipose tissue, Overgrowth, Hyperlipidemia, Insulin resistance, Lipodystrophy |
ORPHA:199276 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Excessive insulin response to glu... |
ORPHA:276556 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Optic nerve hypoplasia, Polymicrogyria, Agenesis of cor... |
ORPHA:250972 |
Mucolipidosis Iv |
|
Optic atrophy, Dystonia, Dysplastic corpus callosum, Retinal degeneration, Corneal opacity, Opaci... |
OMIM:252650 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Loss of s... |
OMIM:151660 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... |
OMIM:610947 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus, Flexion contracture |
OMIM:618856 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Insulin resistance, Failure to thrive, Elevated circulating creatine kinase concent... |
OMIM:613327 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Loss of s... |
ORPHA:280365 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... |
ORPHA:435651 |
Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... |
ORPHA:300573 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Central Neurocytoma |
|
Paresthesia, Ataxia, Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification... |
ORPHA:73256 |
Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
Familial Progressive Cardiac Conduction Defect |
|
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia |
ORPHA:871 |
Short Syndrome |
|
Insulin resistance, Weight loss, Lipodystrophy, Abnormal dental enamel morphology, Diabetes melli... |
ORPHA:3163 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Optic atrophy, Small cerebral cortex, Colpocephaly, Ventriculomegaly,... |
ORPHA:2185 |
Hyperostosis Frontalis Interna |
|
Obesity, Diabetes mellitus, Increased circulating prolactin concentration |
OMIM:144800 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Adipose tissue loss, Precocious puberty, P... |
OMIM:246200 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Small for gestational age, Insulin resistance, Failure to thrive, Neonatal hyperbil... |
ORPHA:73272 |
Growth Factors, Combined Defect Of |
|
Insulin-resistant diabetes mellitus, Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion ... |
OMIM:233805 |
Childhood Disintegrative Disorder |
|
Dementia, Social and occupational deterioration, Mental deterioration, Motor deterioration, Impai... |
ORPHA:168782 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... |
OMIM:262190 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Abnormal cortical gyration, Aplasia/Hypoplasia of the pyramidal tract, Neonatal death, Polymicrog... |
OMIM:619602 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... |
ORPHA:263455 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Decreased response to growth hormone stimulation test, Hyperbilirubinemia,... |
OMIM:609734 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl... |
ORPHA:2126 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... |
OMIM:608612 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Cholecystitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstr... |
ORPHA:69663 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Dorsocervica... |
OMIM:615830 |
Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... |
OMIM:616222 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia, Tall stature |
OMIM:618406 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Blue Diaper Syndrome |
|
Hypercalcemia, Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating thyro... |
ORPHA:94086 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Small for gestational age, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Elevated hepatic transaminas... |
ORPHA:2089 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Obesity Due To Sim1 Deficiency |
|
Obesity, Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
Long Qt Syndrome 10 |
|
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... |
OMIM:611819 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hyperinsulinemia |
ORPHA:791 |
Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... |
OMIM:248370 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age |
OMIM:248110 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... |
ORPHA:97279 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... |
OMIM:615954 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypogonadism, D... |
ORPHA:453533 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dystonia, Dysplastic corpus callosum, Failure to thrive, Leukoencephalopathy, Bradykinesia, Hypop... |
OMIM:614924 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia |
ORPHA:3085 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Insuli... |
ORPHA:769 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia, Hepatic... |
ORPHA:436182 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Death in childhood, Retinal pigment epithelial mottling,... |
OMIM:619517 |
Placental Insufficiency |
|
Small for gestational age, Insulin resistance |
ORPHA:439167 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Martsolf Syndrome 2 |
|
Developmental cataract, Cataract, Dilation of lateral ventricles, Decreased body weight, Hypoplas... |
OMIM:619420 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Chorioretinal coloboma, Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum |
OMIM:300864 |
Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
Short Syndrome |
|
Small for gestational age, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intoleranc... |
OMIM:269880 |
Pancreatic And Cerebellar Agenesis |
|
Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Reduced subcutaneous adipo... |
OMIM:609069 |
Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Partial agenesis of the corpus callosum, Basal ganglia necrosis, Dystonia, Small for gestational ... |
ORPHA:79243 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Decreased body weight, Lissen... |
OMIM:614833 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Hyperlipidemia,... |
ORPHA:189439 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed puberty |
ORPHA:90154 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity, Joint contracture of the hand, Camptodactyly |
OMIM:264010 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
Seckel Syndrome 10 |
|
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... |
OMIM:617253 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia |
OMIM:606762 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Corticospinal tract hypoplasia, Ventriculomegaly, Ataxia, Short corpus cal... |
ORPHA:255138 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hype... |
ORPHA:79237 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C... |
OMIM:606069 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Spastic gait, Impaired vibration sensation in the lower limbs, Hypoplasia of the co... |
ORPHA:401815 |
Alg13-Cdg |
|
Decreased body weight, Abnormal lateral ventricle morphology |
ORPHA:324422 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Insulin r... |
ORPHA:90301 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... |
ORPHA:2088 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Hypoplasia of the corpus callosum, Gait ataxia, Gait imbalance, Abnormal lateral ventricle morpho... |
ORPHA:488635 |
Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... |
OMIM:611875 |
Aromatase Deficiency |
|
Type II diabetes mellitus, Hyperlipidemia, Tall stature, Insulin resistance, Eunuchoid habitus, H... |
ORPHA:91 |
Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Hypertriglyceridemia 1 |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism |
OMIM:144600 |
Dopa-Responsive Dystonia |
|
Gait disturbance, Dystonia, Arm dystonia, Fatigable weakness, Inability to walk, Generalized dyst... |
ORPHA:255 |
Perlman Syndrome |
|
Hepatomegaly, Tall stature, Hyperinsulinemia, Abnormal pancreas morphology, Inguinal hernia, Femo... |
ORPHA:2849 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Increased total bilirubin, Elevated hepatic transaminase, Increased body weight, Ja... |
ORPHA:890 |
Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
Mehmo Syndrome |
|
Hypoglycemia, Small for gestational age, Male hypogonadism, Obesity, Decreased response to growth... |
OMIM:300148 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Large for gestational age |
ORPHA:2432 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Leprechaunism |
|
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Fail... |
ORPHA:508 |
Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Abnormal circulating lipid concentration, Obesity, Biliary tract abnor... |
ORPHA:3191 |
Werner Syndrome |
|
Thyroid carcinoma, Type II diabetes mellitus, Chondrocalcinosis, Insulin resistance, Lipodystroph... |
ORPHA:902 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Abnormal circulating lipid concentration, Truncal obesity, Diabetes mellitus,... |
OMIM:616541 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Insulin resistance, Premature adrenarche, Recurrent hypog... |
ORPHA:813 |
Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Insulin resistance, Truncal obesity, Hypogonadism, Nephrogenic diabetes insipid... |
OMIM:209900 |
Monosomy 13Q34 |
|
Hepatic steatosis, Obesity, Infantile hypercalcemia, Insulin resistance |
ORPHA:96168 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Congenital hypothyroidism, Increased body mass index, Increased T3/T4 ratio, Impaire... |
OMIM:614450 |
Bardet-Biedl Syndrome 2 |
|
Hypogonadism, Obesity, Diabetes mellitus |
OMIM:615981 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Mehmo Syndrome |
|
Obesity, Diabetes mellitus |
ORPHA:85282 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocell... |
ORPHA:465508 |
Halothane Hepatitis |
|
Obesity, Hepatitis, Viral hepatitis, Eosinophilia, Jaundice |
OMIM:234350 |
Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Failure to thrive, Increased hepat... |
OMIM:220111 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Gait disturbance, Multifocal cerebral white matter abnormalities, Failure to thrive in infancy, D... |
ORPHA:488627 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Failure to thrive, Diabetes mellitus, Exocrine pancreatic insufficiency, N... |
OMIM:260370 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Umbilical hernia, Tall stature, Insulin-resistant diabetes mellitus at puberty, Red... |
OMIM:608594 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepa... |
OMIM:602579 |
Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... |
ORPHA:1501 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Obesity |
ORPHA:3055 |
Leptin Receptor Deficiency |
|
Pituitary hypothyroidism, Diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Decreased r... |
OMIM:614963 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hepatomegaly, Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus |
OMIM:616026 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Obesity, Spastic gait, Astigmat... |
OMIM:617296 |
Alg2-Cdg |
|
Iris coloboma, Cataract, Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Hyper... |
ORPHA:79326 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior, Attention deficit hyperactivity disorder, Poor eye contact |
ORPHA:444002 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Optic nerve hypoplasia, Dilation of lateral ventricles, Agenesis of co... |
OMIM:618736 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Umbilical hernia, Tall stature, Insulin-resistant diabetes mellitus at puberty, Red... |
OMIM:269700 |
Temple Syndrome |
|
Type II diabetes mellitus, Small for gestational age, Recurrent hypoglycemia, Obesity, Decreased ... |
ORPHA:254516 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Precocious puberty |
ORPHA:254531 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Dandy-Walker malformation, Anencephaly, Retinal dysplasia, Ventriculomegaly, Hydrocephalus, Optic... |
OMIM:615287 |
Whipple Disease |
|
Hepatomegaly, Cachexia, Hyponatremia, Insulin resistance, Splenomegaly, Hypothyroidism |
ORPHA:3452 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis, Obesity, Type II diabetes mellitus |
ORPHA:2377 |
Halperin-Birk Syndrome |
|
Optic atrophy, Developmental cataract, Colpocephaly, Failure to thrive, Ventriculomegaly, Inabili... |
OMIM:618651 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Obesity, Truncal obesity |
OMIM:615986 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Decreased liver... |
ORPHA:79319 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... |
OMIM:618620 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Obesity, Hypogonadotropic hypogonadism, Diabetes mellitus |
OMIM:610628 |
Macrosomia Adiposa Congenita |
|
Obesity, Eosinophilia, Large for gestational age |
OMIM:248100 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic fibrosis, Glucose intolerance, Impaired glucose tolerance, Splenomegaly, Ch... |
OMIM:615630 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hyperglycemia, Joint contracture of the hand, Inguinal hernia, Camptodactyly of... |
OMIM:175700 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Failure to t... |
ORPHA:264580 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Dysplastic corpus callosum, Anterior hypopituitarism |
OMIM:601016 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulat... |
ORPHA:79240 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus, Hypo... |
ORPHA:77296 |
Narcolepsy 7 |
|
Obesity, Type II diabetes mellitus |
OMIM:614250 |
Proprotein Convertase 1/3 Deficiency |
|
Reactive hypoglycemia, Obesity, Decreased circulating cortisol level |
OMIM:600955 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Failure to thrive, Decreased serum iron, Diabetes mellitus, Flexion contracture, Overweight, Hypo... |
ORPHA:391372 |
Cach Syndrome |
|
Optic atrophy, Dysmetria, Dysgyria, Optic neuritis, Truncal ataxia, T2 hypointense thalamus, Cere... |
ORPHA:135 |
Pontocerebellar Hypoplasia Type 2 |
|
Abnormal cortical gyration, Paroxysmal dystonia, Dysplastic corpus callosum, Choreoathetosis, Ven... |
ORPHA:2524 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Increased blood ... |
ORPHA:230 |
Hsd10 Disease |
|
Abnormal social behavior, Gait disturbance, Ataxia |
ORPHA:391417 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Cerebral cortical hemiatrophy, Bradykinesia, Dilation of lateral ventricles, Difficulty... |
ORPHA:306669 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Dysgenesis of the hippocampus, Torticollis, Spastic ataxia, Polymicrogyria, Abnormality of the ba... |
ORPHA:300570 |
Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... |
ORPHA:101016 |
Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Small for gestational age, Go... |
OMIM:210740 |
Fanconi Anemia, Complementation Group I |
|
Colpocephaly, Optic nerve hypoplasia, Absent septum pellucidum, Decreased body weight, Astigmatis... |
OMIM:609053 |
Gitelman Syndrome |
|
Maternal diabetes, Type II diabetes mellitus, Chondrocalcinosis, Primary hyperaldosteronism, Insu... |
ORPHA:358 |
Central Precocious Puberty |
|
Overgrowth, Increased circulating gonadotropin level, Isosexual precocious puberty, Premature the... |
ORPHA:759 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Developmental cataract, Peripheral axonal neuropathy, Dysplastic corpus callosum, Neonatal death |
OMIM:618810 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Pachygyria |
OMIM:614870 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Death in infancy, Dysplastic corpus callosum, Failure to thrive, Death in childhood, Secondary mi... |
OMIM:619423 |
Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Diabetes insipid... |
OMIM:203800 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Shyness |
OMIM:300801 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Flexion contracture, Insulin resistance |
ORPHA:90153 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Optic atrophy, Colpocephaly, Simplified gyral pattern, Ventriculomeg... |
OMIM:615219 |
Bloom Syndrome |
|
Small for gestational age, Insulin resistance, Adipose tissue loss, Abdominal obesity, Diabetes m... |
ORPHA:125 |
Cardiofaciocutaneous Syndrome 4 |
|
Developmental cataract, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Abnormal later... |
OMIM:615280 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... |
ORPHA:412 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
Unilateral Hemispheric Polymicrogyria |
|
Dilation of lateral ventricles, Thick cerebral cortex, Cortical dysplasia, Cerebral hypoplasia |
ORPHA:101071 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Retinal coloboma, Failure to thrive, Iris coloboma, Pachygyria, Polym... |
ORPHA:2328 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Athetosis, Dandy-Walker malformation, Dystonia, Dysplastic corpus callosum, Dilated fourth ventri... |
ORPHA:357058 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Cerebral atrophy, Dystonia, Chorea, Leukoencephalopathy, Abnormal cerebral white matter morpholog... |
ORPHA:178469 |
Idiopathic Neonatal Atrial Flutter |
|
Maternal diabetes, Large for gestational age |
ORPHA:45452 |
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 |
Estrogen Resistance Syndrome |
|
Overgrowth, Tall stature, Glucose intolerance, Absence of pubertal development, Absence of second... |
ORPHA:785 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Deep white matter hypodensities, Optic disc pallor, Abnormal corpus callosum morphology, Decrease... |
ORPHA:565624 |
Tenorio Syndrome |
|
Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Dysplastic corpus callosum, Ventriculomegaly, Small basal ganglia, Periventricular leukomalacia, ... |
OMIM:616900 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Hyperbilirubinemia, Absen... |
OMIM:615710 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... |
ORPHA:1227 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Gait disturbance, Hypothalamic atrophy, Peripheral axonal neuropathy, Retinal degeneration, Ortho... |
ORPHA:2822 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior, Dementia, Semantic dementia, Memory impairment |
ORPHA:1020 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Type II diabetes mellitus, Eunuchoid habitus, Hypogonadism, Abnormality of the thyroid gland, Obe... |
ORPHA:2234 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Fasting hypoglycemia, Small for gestational age, Insulin resistance, Failure to thrive, Premature... |
ORPHA:96182 |
Pontocerebellar Hypoplasia, Type 13 |
|
Dandy-Walker malformation, Failure to thrive, Inability to walk, Hypoplastic hippocampus, Hypopla... |
OMIM:618606 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Hyperglycemia, Contractures of the joints of the lower limbs, Failure to t... |
ORPHA:99885 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Peritonitis, Hyperglycemia, Abnormal glucose homeostasis |
ORPHA:391673 |
Polyrrhinia |
|
Dilation of lateral ventricles, Abnormal third ventricle morphology |
ORPHA:141091 |
Isolated Sedoheptulokinase Deficiency |
|
Hepatitis, Arthrogryposis multiplex congenita, Cholestatic liver disease, Steatorrhea, Cholestasi... |
ORPHA:440713 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Dilation of lateral ventricles, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microc... |
OMIM:618890 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... |
ORPHA:300373 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Wilson Disease |
|
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis... |
ORPHA:905 |
Malan Overgrowth Syndrome |
|
Optic disc pallor, Optic disc hypoplasia, Ventriculomegaly, Episodic ataxia, Dilation of lateral ... |
ORPHA:420179 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Obesity, Congenital hypothyroidism, Diabetes mellitus |
OMIM:614613 |
Congenital Analbuminemia |
|
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, ... |
ORPHA:86816 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... |
ORPHA:209902 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Dystonia, Shyness, Waddling gait, Difficulty walking |
ORPHA:280763 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Failure to thrive, Dilation of lateral ventricles, Agenesis of corpus callosum |
OMIM:300952 |
Hypokalemic Periodic Paralysis |
|
Adrenocortical adenoma, Mildly elevated creatine kinase, Postprandial hyperglycemia, Episodic hyp... |
ORPHA:681 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Hypoalbuminemia |
ORPHA:88643 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Dysplastic corpus callosum, Failure to thrive, Simplified gyral pattern, Ventriculomegaly, Pachyg... |
OMIM:619179 |
Smith-Kingsmore Syndrome |
|
Hypoglycemia, Umbilical hernia, Large for gestational age |
OMIM:616638 |
Nephronophthisis 15 |
|
Obesity, Hepatic failure |
OMIM:614845 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Failure to thrive in infancy, Cerebral white matter hypoplasia, Simplified gyral pattern, Primary... |
ORPHA:284417 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Scissor gait, Bradykinesia, Diffuse cerebral atrophy, Dilation of latera... |
ORPHA:363654 |
Oculocerebrodental Syndrome |
|
Focal white matter lesions, Developmental cataract, Dysplastic corpus callosum, Abnormality of th... |
ORPHA:557003 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Type II diabetes mellitus, Overweight |
ORPHA:401923 |
Bilateral Generalized Polymicrogyria |
|
Dystonia, Diffuse white matter abnormalities, Hypoplastic hippocampus, Dilation of lateral ventri... |
ORPHA:208447 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior, Hyperactivity |
ORPHA:101039 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperglycemia, Weight loss, Hyperammonemia, Hyperuricemia |
ORPHA:134 |
Glutamine Deficiency, Congenital |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Subependymal cysts, Neonatal d... |
OMIM:610015 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Dilation of lateral ventricles, Polymicrogyria |
OMIM:300982 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia, Glucose intolerance, Impaired glucose tolerance, Pituitary adenoma, Abdominal obesit... |
OMIM:219090 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dandy-Walker malformation, Optic atrophy, Small for gestational age, Dilated fourth ventricle, Di... |
ORPHA:3078 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Congenital hypothyroidism, Goiter, Decreased circulating T4 level, Large for gestational age, Ele... |
ORPHA:226313 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum |
OMIM:616816 |
Glutaric Acidemia I |
|
Dystonia, Choreoathetosis, Failure to thrive, Symmetrical progressive peripheral demyelination, D... |
OMIM:231670 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Athetosis, Cerebral white matter hypoplasia, Dysmetria, Dilated fourth ventricle, Leukoencephalop... |
ORPHA:572798 |
Slc35A2-Cdg |
|
Dandy-Walker malformation, Failure to thrive in infancy, Cerebral white matter atrophy, Abnormal ... |
ORPHA:356961 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... |
OMIM:300888 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... |
ORPHA:98855 |
Microphthalmia-Brain Atrophy Syndrome |
|
Dilation of lateral ventricles, Corpus callosum atrophy, Microcephaly, Diffuse cerebral atrophy |
ORPHA:77299 |
Mental Retardation, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Polymicrogyria, Dilation of lateral ventricles, Hypoplasia of the corpu... |
OMIM:617751 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hypernatremia, Neonatal hyperbilirubinemia, Hyperglycemia, Failure to... |
ORPHA:3008 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Colpocephaly, Sclerocornea, Absent septum pellucidum, Iris coloboma, Hydrocephalus, Cataract, Pig... |
OMIM:309801 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior, Hyperactivity, Ataxia |
ORPHA:530983 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Decreased circulating free T3, Thyroid hypoplasia, Abnormal circulating thyroglobulin level, Pitu... |
ORPHA:99832 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum... |
ORPHA:544488 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Obesity, ... |
OMIM:603233 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... |
ORPHA:98863 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Hypoglycemia |
OMIM:608624 |
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 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypogonadism, Enamel hypopla... |
OMIM:612462 |
Cushing Disease |
|
Adrenal hyperplasia, Increased urinary cortisol level, Increased circulating cortisol level, Impa... |
ORPHA:96253 |
Bachmann-Bupp Syndrome |
|
Hypoglycemia, Hyperbilirubinemia, Large for gestational age |
OMIM:619075 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Polymicrogyria, Microcephaly |
OMIM:618731 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypoglycemia, Inappropriate antidiuretic hormone secretion, Thyroid hypoplasia, Hypogonadotropic ... |
ORPHA:226307 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypercholesterolemia, Hypothyroidism, Hypopituitarism |
ORPHA:90065 |
Holoprosencephaly 5 |
|
Central diabetes insipidus, Dilation of lateral ventricles, Hydrocephalus, Microcephaly |
OMIM:609637 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Increased body weight, Hypertriglyceridemia, Abnormality of the thyroid gland |
OMIM:182290 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Non-medullary thyroid carcinoma, Insulin resistance, Secondary hyperparathyro... |
ORPHA:273 |
Atypical Werner Syndrome |
|
Type II diabetes mellitus, Chondrocalcinosis, Abnormality of circulating leptin level, Insulin-re... |
ORPHA:79474 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Failure to thrive, Xerostomia, Absence of pube... |
ORPHA:398069 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Focal polymicrogyria, Attent... |
OMIM:619103 |
Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Episodic hypokalemia, Weight loss,... |
ORPHA:79102 |
Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypogonadism, Enamel hypopla... |
OMIM:103580 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dilated third ventricle, Dandy-Walker malformation, Subretinal deposits, Colpocephaly, Failure to... |
ORPHA:397715 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Overgrowth, Small for gestational age, Large for gestational age, Umbilical hernia |
ORPHA:254534 |
Sheehan Syndrome |
|
Hyponatremia, Central adrenal insufficiency, Hypoglycemia, Abnormal size of pituitary gland, Decr... |
ORPHA:91355 |
Aicardi Syndrome |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Choroid plexus cyst, Dandy-Walk... |
OMIM:304050 |
Senior-Loken Syndrome 9 |
|
Obesity, Hepatic fibrosis, Cholestasis |
OMIM:616629 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Pancreatic hypoplasia, Hyperglycemia, Congenital diaphragmatic hernia, Failure to thrive, Aplasia... |
OMIM:600001 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... |
ORPHA:98754 |
Cerebrofacioarticular Syndrome |
|
Dysplastic corpus callosum, Ventriculomegaly, Ataxia, Hypoplasia of the corpus callosum, Agenesis... |
ORPHA:314679 |
Metachromatic Leukodystrophy, Adult Form |
|
Progressive psychomotor deterioration, Dementia, Dystonia, Progressive gait ataxia, Abnormal soci... |
ORPHA:309271 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Failure to thrive, Premature adrenarche, Hypog... |
ORPHA:398079 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Dilated third ventricle, Developmental cataract, Cavum septum pellucidum, Inability to walk, Diff... |
ORPHA:464738 |
Aicardi-Goutieres Syndrome 9 |
|
Optic atrophy, Dystonia, Failure to thrive, Weight loss, Diffuse leukoencephalopathy, Chorioretin... |
OMIM:619487 |
Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance, Absence of subcutaneous fat, Weight loss, Severe failure to thrive, Decreased... |
ORPHA:740 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... |
ORPHA:98793 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Atypical pulmonary carcinoid tumor, Small intestine carcinoid, Neoplasm of t... |
ORPHA:99889 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... |
ORPHA:177904 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Dilation of lateral ventricles, Multifocal cerebral white matter abnormalities, Subependymal cysts |
OMIM:600721 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... |
ORPHA:177901 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Obesity, Achilles tendon contracture, Hyperal... |
OMIM:615418 |
Alström Syndrome |
|
Hyperlipidemia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concent... |
ORPHA:64 |
Macrocephaly/Autism Syndrome |
|
Obesity, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Down Syndrome |
|
Obesity, Type II diabetes mellitus, Umbilical hernia, Hypothyroidism |
ORPHA:870 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Hypogonadotropic ... |
OMIM:176270 |
Distal Monosomy 10Q |
|
Failure to thrive, Facial diplegia, Astigmatism, Cavum septum pellucidum, Ataxia, Unsteady gait, ... |
ORPHA:96148 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Hyponatremia, Hyperlipidemia, Elevated hepatic transaminase, Hyperglycemi... |
ORPHA:293987 |
Gaisböck Syndrome |
|
Hyperproteinemia, Obesity, Hyperuricemia, Hypercholesterolemia, Overweight, Diabetes mellitus, Hy... |
ORPHA:90041 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Astigmatism, Abnormal corpus callosum morphology, Cavum septum pellucidum, Ataxia, Abnormal cereb... |
ORPHA:457279 |
Septo-Optic Dysplasia Spectrum |
|
Maternal diabetes, Diabetes insipidus, Abnormality of the hypothalamus-pituitary axis, Anterior p... |
ORPHA:3157 |
Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... |
ORPHA:398073 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abnormal social behavior, Progressive psychomotor deterioration, Dystonia, Progressive gait ataxia |
ORPHA:309263 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Optic nerve hypoplasia, Ventriculomegaly, Astigmatism, Hypoplasia of the corpus cal... |
ORPHA:261250 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Dilation of lateral ventricles, Small for gestational age, Microcephaly |
OMIM:619278 |
Kohlschutter-Tonz Syndrome-Like |
|
Obesity, Ventriculomegaly, Ataxia, Inability to walk, Decreased body weight, Death in adolescence... |
OMIM:619229 |
Pmm2-Cdg |
|
Hepatic fibrosis, Insulin resistance, Failure to thrive, Elevated hepatic transaminase, Hypogonad... |
ORPHA:79318 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum, Probst bundles |
OMIM:612863 |
Tonne-Kalscheuer Syndrome |
|
Shyness, Broad-based gait |
OMIM:300978 |
Khan-Khan-Katsanis Syndrome |
|
Buphthalmos, Colpocephaly, Failure to thrive, Corneal scarring, Peters anomaly, Pigmentary retino... |
OMIM:618460 |
Spondyloenchondrodysplasia |
|
Chorea, Decreased response to growth hormone stimulation test, Ventriculomegaly, Abnormal lateral... |
ORPHA:1855 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Dystonia, Progressive gait ataxia, Tip-toe gait, Abnormal social behavior, Gait ataxia |
ORPHA:309256 |
Craniopharyngioma |
|
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Hypogonadotro... |
ORPHA:54595 |
Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Obesity, Precocious puberty, Type I diabetes mellitus, Dentinogenesis imperfecta |
OMIM:619269 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Pachygyria, Agyria, Dilation ... |
ORPHA:2148 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Obesity, Precociou... |
OMIM:301066 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Shyness, Poor eye contact, Hyperactivity, Impaired social interactions, Attention deficit hyperac... |
ORPHA:449291 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Lens coloboma |
OMIM:618914 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Osteopetrosis, Autosomal Recessive 7 |
|
Optic atrophy, Death in infancy, Optic nerve compression, Hydrocephalus, Death in childhood, Dila... |
OMIM:612301 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Absent septum pellucidum, Attention deficit hyperactivi... |
OMIM:618820 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Ventriculomegaly |
ORPHA:363444 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypogonadotropic hypogonadism, Secondary growth hormone deficiency, Absence of secondary sex char... |
ORPHA:2235 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Anterior polar cataract, Failure to thrive, Hydrocephalus, Overweight, D... |
OMIM:619575 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellitus, Delayed puberty, Decreased ser... |
ORPHA:3464 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Colpocephaly, Optic nerve hypoplasia, Agenesis of corpus callosum, Microce... |
OMIM:301043 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:64280 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Overfriendliness, Hyperactivity, Ataxia |
ORPHA:369891 |
Early-Onset Schizophrenia |
|
Shyness, Cognitive impairment, Lack of peer relationships, No social interaction, Attention defic... |
ORPHA:96369 |
X-Linked Intellectual Disability, Cilliers Type |
|
Shyness |
ORPHA:163971 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Overfriendliness, Attention deficit hyperactivity disorder |
OMIM:619293 |
Acrodysostosis With Multiple Hormone Resistance |
|
Elevated circulating parathyroid hormone level, Congenital hypothyroidism, Hypogonadism, Pseudohy... |
ORPHA:280651 |
6Q Terminal Deletion Syndrome |
|
Abnormal cerebral cortex morphology, Dysmetria, Colpocephaly, Failure to thrive, Hypoplasia of th... |
ORPHA:75857 |
Choreoacanthocytosis |
|
Oromandibular dystonia, Frontal cortical atrophy, Abnormal hippocampus morphology, Lingual dyston... |
ORPHA:2388 |
Cog5-Cdg |
|
Cerebral white matter atrophy, Truncal ataxia, Diffuse cerebral atrophy, Dilation of lateral vent... |
ORPHA:263487 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly |
OMIM:618569 |
Cri-Du-Chat Syndrome |
|
Overfriendliness, Hyperactivity, Difficulty walking |
OMIM:123450 |
Mosaic Trisomy 1 |
|
Dilation of lateral ventricles, Opacification of the corneal stroma, Polymicrogyria, Agenesis of ... |
ORPHA:1692 |
Beckwith-Wiedemann Syndrome |
|
Adrenocortical carcinoma, Adrenocortical cytomegaly, Omphalocele, Hypoglycemia, Hepatomegaly, Tal... |
ORPHA:116 |
Fg Syndrome Type 1 |
|
Abnormal social behavior, Attention deficit hyperactivity disorder, Broad-based gait |
ORPHA:93932 |
Bainbridge-Ropers Syndrome |
|
Death in infancy, Failure to thrive, Inability to walk, Dilation of lateral ventricles, Hypoplasi... |
OMIM:615485 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Obesit... |
ORPHA:99413 |
Turner Syndrome |
|
Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Obesit... |
ORPHA:881 |
Mosaic Monosomy X |
|
Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Obesit... |
ORPHA:99228 |
Monosomy X |
|
Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Obesit... |
ORPHA:99226 |
Paganini-Miozzo Syndrome |
|
Dilation of lateral ventricles |
OMIM:301025 |
Joubert Syndrome 8 |
|
Prolonged neonatal jaundice, Obesity, Hepatomegaly |
OMIM:612291 |
X-Linked Intellectual Disability, Wilson Type |
|
Dilation of lateral ventricles, Microcephaly |
ORPHA:85290 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Niemann-Pick Disease Type C |
|
Gait disturbance, Dementia, Dystonia, Axial dystonia, Cognitive impairment, Progressive neurologi... |
ORPHA:646 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Dysmetria, Ataxia, Nonprogressive cerebellar ataxia, Abnormal social behavior, Unsteady gait, Mem... |
ORPHA:314647 |
Scorpion Envenomation |
|
Hypokalemia, Hyperglycemia, Glycosuria, Increased circulating NT-proBNP concentration, Elevated c... |
ORPHA:466677 |
Witteveen-Kolk Syndrome |
|
Dysplastic corpus callosum, Small for gestational age, Ventriculomegaly, Iris coloboma, Hyperacti... |
OMIM:613406 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Abnormal caudate nucleus morphology, Primary microcephaly, Periventricular l... |
ORPHA:293725 |
Zttk Syndrome |
|
Optic atrophy, Dysplastic corpus callosum, Failure to thrive, Ventriculomegaly, Periventricular l... |
OMIM:617140 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Dilation of lateral ventricles, Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy |
OMIM:607485 |
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia |
|
Hypomagnesemia, Obesity |
ORPHA:34527 |
48,Xxxy Syndrome |
|
Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:96263 |
Carney Complex |
|
Thyroid carcinoma, Euthyroid multinodular goiter, Increased serum insulin-like growth factor 1, H... |
ORPHA:1359 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Pineal cyst, Dysplastic corpus callosum, Slender build, Thick corpus callosum, Ataxia |
OMIM:300967 |
White-Kernohan Syndrome |
|
Obesity, Attention deficit hyperactivity disorder, Dysplastic corpus callosum |
OMIM:619426 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Failure to thrive in infancy, Dysplastic corpus callosum, Progressive ventriculome... |
ORPHA:500150 |
Prader-Willi Syndrome Due To Translocation |
|
Stellate iris, Obesity, Attention deficit hyperactivity disorder, Anterior pituitary hypoplasia, ... |
ORPHA:177907 |
Perlman Syndrome |
|
Pancreatic islet-cell hyperplasia, Congenital diaphragmatic hernia, Large for gestational age |
OMIM:267000 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hyperglycemia, Obesity, Decreased response to growth hormone stimulation test, Hypothyroidism |
ORPHA:444077 |
Bardet-Biedl Syndrome 20 |
|
Pancreatitis, Hypercholesterolemia, Male hypogonadism, Elevated hepatic transaminase, Obesity |
OMIM:619471 |
Luscan-Lumish Syndrome |
|
Shyness |
OMIM:616831 |
49,Xxxxy Syndrome |
|
Overfriendliness, Shyness, Attention deficit hyperactivity disorder |
ORPHA:96264 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic atrophy, Optic disc pallor, Obesity, Leukoencephalopathy, Optic disc coloboma, Microcephaly... |
OMIM:607872 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Retinal coloboma, Iris coloboma, Polymicrogyria, Abnormal hippocampus morphology, Focal hypointen... |
ORPHA:261552 |
Koolen-De Vries Syndrome |
|
Overfriendliness |
ORPHA:96169 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dysplastic corpus callosum, Failure to thrive, Slender build, Ataxia, Anterior pituitary hypoplas... |
ORPHA:466791 |
Digeorge Syndrome |
|
Parathyroid agenesis, Inguinal hernia, Cholelithiasis, Decreased circulating parathyroid hormone ... |
OMIM:188400 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Abnormal social behavior, Inability to walk |
ORPHA:1675 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Retinal coloboma, Iris coloboma, Polymicrogyria, Abnormal hippocampus morphology, Focal hypointen... |
ORPHA:261537 |
Weaver Syndrome |
|
Dilation of lateral ventricles, Absent septum pellucidum |
OMIM:277590 |
Mend Syndrome |
|
Abnormal social behavior, Hyperactivity |
ORPHA:401973 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Failure to thrive, Corneal scarring, Abnormal corpus callosum morphology, Hyperactivity, Cataract... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Failure to thrive, Corneal scarring, Abnormal corpus callosum morphology, Hyperactivity, Cataract... |
ORPHA:353277 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Overfriendliness, Attention deficit hyperactivity disorder, Abnormal social behavior |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Overfriendliness, Attention deficit hyperactivity disorder, Abnormal social behavior |
ORPHA:363958 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Increased body weight |
ORPHA:244242 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Small pituitary gland, Ventric... |
OMIM:619479 |
Trichothiodystrophy |
|
Gait ataxia, Impaired social reciprocity |
ORPHA:33364 |
Van Esch-O'Driscoll Syndrome |
|
Shyness |
OMIM:301030 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Colpocephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia |
ORPHA:477993 |
Tuberous Sclerosis Complex |
|
Abnormal social behavior, Hyperactivity, Attention deficit hyperactivity disorder |
ORPHA:805 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Dilation of lateral ventricles, Pachygyria, Retinal dystrophy |
OMIM:263520 |
Genitopatellar Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:606170 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Rod-cone dystrophy, Cerebral atrophy, Dilation of lateral ventricles, Hypoplasia of the corpus ca... |
OMIM:300896 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling |
ORPHA:447997 |
Williams Syndrome |
|
Gait disturbance, Gait imbalance, Dysmetria, Ataxia, Overfriendliness, Attention deficit hyperact... |
ORPHA:904 |
1P21.3 Microdeletion Syndrome |
|
Shyness |
ORPHA:293948 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Failure to thrive, Neonatal death, Anterior pituitary hypoplasia, Hydrocephalus, Dilation of late... |
OMIM:619534 |
Monosomy 22Q13.3 |
|
Hyperactivity, Hair-pulling |
ORPHA:48652 |