| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:601820 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... |
ORPHA:293964 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Reduced subcutaneous adipose ti... |
ORPHA:280356 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Constipation, Central hypothyroidism, Inappropriately normal thyroid-stimul... |
OMIM:301033 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... |
ORPHA:324575 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypercholesterolemia, Infertility, Azoospermia, Oligospermia, Insulin resistance, Hepatic steatos... |
OMIM:615703 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age, Neonatal hypoglycemia |
OMIM:240900 |
| Insulinoma |
|
Coma, Tremor, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Paresthesia, Neoplasm of... |
ORPHA:97279 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... |
ORPHA:276580 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes mellitus, Chil... |
ORPHA:71529 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Lipodystrophy,... |
OMIM:604367 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Lipodystrophy, Insulin-resistant diabetes mellitus, Acu... |
OMIM:608600 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsuli... |
ORPHA:276575 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity |
OMIM:613375 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Decre... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Decre... |
ORPHA:71526 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Decreased response to... |
OMIM:262400 |
| Multiple Symmetric Lipomatosis |
|
Paresthesia, Insulin resistance, Gait disturbance, Abnormal adipose tissue morphology, Multiple l... |
ORPHA:2398 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic is... |
ORPHA:276556 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
OMIM:609968 |
| Hypoglycemia, Leucine-Induced |
|
Coma, Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia, Drowsiness, Spasticity |
OMIM:240800 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... |
ORPHA:79299 |
| Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Abnormality of body weight, Hypoglycemia, Decreased... |
ORPHA:314811 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive in infancy, Hepatomegaly, Hypertriglyceri... |
OMIM:232700 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... |
ORPHA:276608 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... |
OMIM:610947 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Primary... |
OMIM:612526 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... |
ORPHA:263458 |
| Mody |
|
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Overweight, Glucose intolerance, ... |
ORPHA:552 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Polyphagia, Hyperinsulinemia, Attention deficit hyperactivity disorder, Obesity |
ORPHA:369873 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis |
OMIM:613370 |
| Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... |
ORPHA:181393 |
| Huntington Disease |
|
Dystonia, Decreased body mass index, Clumsiness, Poor fine motor coordination, Weight loss, Rigid... |
ORPHA:399 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Insulinomatosis And Diabetes Mellitus |
|
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... |
OMIM:147630 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatom... |
ORPHA:79084 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:306000 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity, Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 |
ORPHA:140941 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... |
ORPHA:99886 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance |
OMIM:307500 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose ... |
OMIM:151660 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Increased intraabdominal fat, Oligomenorrhea, Insulin resistance, Hepatic... |
ORPHA:79085 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Oligomenorrhea, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabe... |
ORPHA:435651 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia |
OMIM:601410 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Oligomenorrhea, Hepatic steatosis, Lipoatrophy, Hypertriglyceridemia, Diabetes mellitus |
OMIM:613877 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Increased intraabdominal fat, Oligomenorrhea, Insulin resistance, Hepatic... |
ORPHA:435660 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Tremor, Gait ataxia, Hyperinsulinemia, Insulin resistance, Poor motor coordination, Reduced intra... |
ORPHA:363400 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
| Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... |
ORPHA:411593 |
| Galactokinase Deficiency |
|
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... |
ORPHA:79237 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... |
ORPHA:66628 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia, Diarrhea, Failure to thrive, Vomiting |
OMIM:606528 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Gait ataxia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, Impaired g... |
OMIM:606721 |
| Short Stature Due To Partial Ghr Deficiency |
|
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 |
ORPHA:314802 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... |
ORPHA:179494 |
| Hyperostosis Frontalis Interna |
|
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration, Obesity |
OMIM:144800 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Amenorrhea, Oligomenorrhea, Hepatic steatosis,... |
ORPHA:528 |
| Leptin Receptor Deficiency |
|
Polyphagia, Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism, Pituitary hypothyro... |
OMIM:614963 |
| Temple Syndrome |
|
Hypercholesterolemia, Maturity-onset diabetes of the young, Cryptorchidism, Overweight, Flexion c... |
OMIM:616222 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... |
OMIM:615954 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Lethargy, Hemiparesis, Ataxia, Paralysis, Confusion, Myoclonus, Babinski sig... |
OMIM:606777 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
| X-Linked Acrogigantism |
|
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... |
ORPHA:300373 |
| Mehmo Syndrome |
|
Inability to walk, Male hypogonadism, Gait ataxia, Difficulty walking, Hypoplasia of the corpus c... |
OMIM:300148 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia, Tall stature, Obesity |
OMIM:618406 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Failure to thrive |
OMIM:617950 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Tremor, Incoordination, Slurred speech, Spastic gait, Babinski sign |
OMIM:160120 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Hyperinsulinemic hypoglycemia, Primary amenorrhea, Delayed puberty, Dorsocervi... |
OMIM:616033 |
| Developmental And Epileptic Encephalopathy 92 |
|
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, Myoclonus, Secondary microceph... |
OMIM:617829 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Lethargy, Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Confusion, Myocl... |
ORPHA:71277 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... |
OMIM:614561 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hypoglycemic seizures, Gonadotropin deficiency, Adrenal hypoplasia, Polyphagia, Obesity, Adrenal ... |
OMIM:609734 |
| Type 2 Diabetes Mellitus |
|
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Hyp... |
ORPHA:263455 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Ataxia, Obesity, Cessation of head growth, Hyperactivity, Broad-based gait |
ORPHA:411515 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... |
OMIM:262190 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Infertility, Lethargy, Polyphagia, Premature pubarche, Premature adrenarche, Central hypothyroidi... |
ORPHA:398079 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Polyphagia, Primary amenorrhea, Abnormal eating behavior, Hypogonadism, O... |
OMIM:614962 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Hypoglycemia, Failure to thrive |
ORPHA:67046 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatomegaly, Failure to thrive, ... |
OMIM:617872 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase conce... |
OMIM:610717 |
| Optic Atrophy 2 |
|
Dysdiadochokinesis, Tremor, Babinski sign |
OMIM:311050 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... |
ORPHA:79506 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hepatic... |
ORPHA:436182 |
| Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism |
OMIM:144600 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism |
OMIM:145750 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... |
ORPHA:35878 |
| Classic Galactosemia |
|
Postural tremor, Decreased fertility in females, Dystonia, Lethargy, Clumsiness, Incoordination, ... |
ORPHA:79239 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Impaired growth-hormone response to insulin stimulation test, Hypothyroidism, Adrenal insufficien... |
OMIM:262700 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level |
OMIM:618856 |
| Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism |
|
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... |
OMIM:619326 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Gait disturbance, Abnormal cerebral white matter morphology, Babinski... |
OMIM:300660 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadism, Central hypothyroidism, Hypoglycemia |
OMIM:616113 |
| Prader-Willi syndrome (Type 1) |
|
Hypogonadism, Truncal obesity |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Hypogonadism, Truncal obesity |
DECIPHER:53 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Flexion contracture, Ataxia, Babinski sign, Leukoencephalopathy, Spasticity |
OMIM:611105 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Polycystic ovaries, Se... |
ORPHA:3085 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Hepatic steatosis, Lipodystrophy, Abdominal obesity, Diabetes mellitus |
OMIM:615980 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Cerebral cortical atrophy, Failure to thrive, Lethargy, Ataxia |
ORPHA:622 |
| Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli... |
ORPHA:2457 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Tremor, Incoordination, Abnormal cerebral white matter morphology, Abnormal pyramidal sign, Ataxi... |
OMIM:614947 |
| Isolated Growth Hormone Deficiency, Type V |
|
Abdominal obesity, Microcephaly, Truncal obesity, Decreased response to growth hormone stimuation... |
OMIM:618160 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... |
ORPHA:2298 |
| Temple Syndrome |
|
Polyphagia, Decreased response to growth hormone stimuation test, Small for gestational age, Type... |
ORPHA:254516 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Hypochromia, Azoospermia, Hypogonadism, Anemia, Spl... |
OMIM:615234 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia |
OMIM:613227 |
| Retinitis Pigmentosa |
|
Hyperinsulinemia, Abnormal testis morphology, Atypical scarring of skin, Type II diabetes mellitu... |
ORPHA:791 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Glucose intolerance, Flexion contracture, Insulin-resistant diabetes mellitus, ... |
OMIM:608612 |
| Donohue Syndrome |
|
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue ... |
OMIM:246200 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dystonia, Lethargy, Ketotic hypoglycemia, Hypertonia, Failure to thrive, Microcephaly |
ORPHA:26792 |
| Immunodeficiency 8 |
|
Lymphopenia, Hyperactivity |
OMIM:615401 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Spinocerebellar Ataxia 43 |
|
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity |
OMIM:617018 |
| Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Inability to walk, Dystonia, Hypoplasia of the corpus callosum, Cerebral atrophy, Ataxia, Obesity... |
OMIM:616756 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Hypogonadism, Obesity |
ORPHA:85274 |
| Sickle Cell Anemia |
|
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... |
ORPHA:232 |
| Perlman Syndrome |
|
Cryptorchidism, Hyperinsulinemia, Tall stature, Hepatomegaly, Inguinal hernia, Femoral hernia, Ab... |
ORPHA:2849 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Hypertriglyceridemia, Jaundice, Diarrhea, Splenome... |
ORPHA:75234 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Dystonia, Lethargy, Hypoglycemia, Ataxia, Microcephaly |
OMIM:246900 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Increased total bilirubin, Nonspherocytic hemolytic... |
ORPHA:3202 |
| Mental Retardation, Autosomal Dominant 52 |
|
Anxiety, Hyperactivity |
OMIM:617796 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Hypoglycemic seizures, Panhypopituitarism, Neonatal hypoglycemia, Hypothyroidism, Adrenal insuffi... |
OMIM:262600 |
| Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... |
ORPHA:1227 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Postural tremor, Gait ataxia, Lethargy, Abnormality of extrapyramidal motor function, Ataxia, Bra... |
ORPHA:101150 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Tremor, Apraxia, Dystonia, Ataxia, Progressive leukoencephalopathy, Periventricular leukomalacia,... |
OMIM:615889 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Aggressive behavior, Hyperactivity |
OMIM:309548 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Infertility, Lethargy, Polyphagia, Premature pubarche, Central hypothyroidism, Hypothalamic lutei... |
ORPHA:398069 |
| Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche, Insulin resistance |
OMIM:614662 |
| Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Obesity |
OMIM:617119 |
| Post-Traumatic Pituitary Deficiency |
|
Panhypopituitarism, Infertility, Decreased circulating ACTH level, Amenorrhea, Pituitary hypothyr... |
ORPHA:95619 |
| Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Hypoglycemia |
ORPHA:446 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Pancreatic And Cerebellar Agenesis |
|
Hypoglycemia, Pancreatic hypoplasia, Failure to thrive, Reduced subcutaneous adipose tissue, Hype... |
OMIM:609069 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Dystonia, Lethargy, Megaloblastic anemia, Spastic ataxia, Hypomethioninemia, Methylmalonic acidem... |
OMIM:277410 |
| Meningioma |
|
Decreased circulating ACTH level, Decreased circulating follicle stimulating hormone concentratio... |
ORPHA:2495 |
| Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Obesity |
OMIM:615989 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... |
OMIM:248370 |
| Glycerol Kinase Deficiency |
|
Cryptorchidism, Adrenocortical hypoplasia, Hypoglycemia, Hypertriglyceridemia, Adrenal insufficie... |
OMIM:307030 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls |
OMIM:615945 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Dystonia, Lethargy, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia |
OMIM:618224 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Decreased circulating T4 level, Lethargy, Reduced TSH response to thyrotrophin-releasing hormone ... |
OMIM:618573 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Diarrhea, Hypoalbuminem... |
OMIM:602579 |
| Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Obesity |
OMIM:605231 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Hypertonia, Cerebral atrophy, Failure to thrive, Hyperactivity, Tetraplegia, Microcepha... |
OMIM:274270 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Infertility, Cirrhosis, Abnormality of iron homeost... |
ORPHA:465508 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... |
ORPHA:251282 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Hyperglycemia, Diabetes mellitus, Polyphagia |
OMIM:222100 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Galactosemia |
|
Postural tremor, Dystonia, Lethargy, Decreased serum insulin-like growth factor 1, Oligomenorrhea... |
ORPHA:352 |
| Severe Canavan Disease |
|
Inability to walk, Lethargy, Cerebral white matter atrophy, Megalencephaly, Oral-pharyngeal dysph... |
ORPHA:314911 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicular size, Dia... |
OMIM:610628 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Episodic ataxia, Lethargy, Dystonia, Basal ganglia cysts, Cerebral atrophy, Small for gestational... |
OMIM:312170 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... |
ORPHA:231720 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Irritability, Hyperactivity |
OMIM:616657 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Spastic paraplegia, Abnormal periventricular white matter morphology, Dysphagia, Hypoplasia of th... |
OMIM:604360 |
| Developmental And Epileptic Encephalopathy 41 |
|
Inability to walk, Lethargy, Hypoplasia of the corpus callosum, Flexion contracture, Cerebral atr... |
OMIM:617105 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Maternal diabetes, Oligomenorrhea, Insulin resistance, Hepatic steatosis, Lipoatrophy,... |
ORPHA:79083 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Cirrhosis, Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Jaundice, Failure to thrive |
OMIM:617156 |
| Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction |
OMIM:612227 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Obesity |
ORPHA:254531 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... |
OMIM:616689 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Irritability, Hypercalcemia, Anemia |
ORPHA:69077 |
| 6Q16 Microdeletion Syndrome |
|
Obesity, Poor coordination, Polyphagia, Broad-based gait |
ORPHA:171829 |
| Endocardial Fibroelastosis |
|
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia |
ORPHA:2022 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Inability to walk, Tremor, Dysphagia, Somatic sensory dysfunction, Distal sensory impairment, Lim... |
ORPHA:90117 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Coma, Tremor, Hemiparesis, Ataxia, Confusion, Drowsiness |
OMIM:141500 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Polycystic ovaries... |
ORPHA:2348 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... |
OMIM:616829 |
| Bardet-Biedl Syndrome 9 |
|
Polyphagia, Irregular menstruation, Truncal obesity, Hyperglycemia, Polydipsia, Obesity |
OMIM:615986 |
| Macrosomia Adiposa Congenita |
|
Large for gestational age, Adrenocortical adenoma, Polyphagia, Obesity |
OMIM:248100 |
| Mpi-Cdg |
|
Congenital hepatic fibrosis, Hypoglycemia |
ORPHA:79319 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... |
OMIM:616860 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Leukoencephalopathy With Vanishing White Matter |
|
Lethargy, Gait disturbance, Primary amenorrhea, Unsteady gait, Secondary amenorrhea, Decreased ci... |
OMIM:603896 |
| Mental Retardation, Autosomal Recessive 37 |
|
Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Acquired Generalized Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Abnormal circul... |
ORPHA:79086 |
| Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphos... |
OMIM:603233 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Patent ductus arteriosus, Anemia |
ORPHA:2123 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:144300 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Secondary amenorrhea, Increased facial adipose tissue, Insulin resistance, Increased adipose tiss... |
ORPHA:280365 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Diarrhea, Hypoalbuminemia, Failure to thrive, Vomiting, Hyperlipidemia |
OMIM:615863 |
| Mental Retardation, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617600 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Coma, Dystonia, Hypertonia, Tetraparesis, Rigidity, Chorea, Abnormal pyramidal sign, Craniofacial... |
OMIM:607483 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Dystonia, Lethargy, Dysphagia, Ataxia, Babinski sign, Failure to thrive, Leukoencephalopathy, Pro... |
OMIM:618226 |
| Methylcobalamin Deficiency Type Cble |
|
Lethargy, Neutropenia, Pancytopenia, Hypomethioninemia, Increased mean corpuscular volume, Hyperh... |
ORPHA:2169 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Laron Syndrome |
|
Hypercholesterolemia, Hypoglycemia, Delayed puberty, Truncal obesity, Abnormality of the endocrin... |
ORPHA:633 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Gait disturbance, Lethargy, Failure to thrive |
ORPHA:79283 |
| Schaaf-Yang Syndrome |
|
Inability to walk, Arthrogryposis multiplex congenita, Polyphagia, Camptodactyly, Flexion contrac... |
OMIM:615547 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Delayed puberty, Diarrhea, Elevated circulating creatine kinase concentrati... |
ORPHA:264580 |
| Retinohepatoendocrinologic Syndrome |
|
Infertility, Maturity-onset diabetes of the young, Degenerative liver disease, Hypothyroidism |
OMIM:268040 |
| Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Hypocalcemia, Falls |
OMIM:615883 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... |
OMIM:206000 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decre... |
ORPHA:90674 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Hyperg... |
OMIM:615710 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Tremor, Gait ataxia, Dystonia, Abnormal cerebral white matter morphology, Ataxia, Myoclonus, Babi... |
OMIM:607317 |
| Methylmalonic Acidemia With Homocystinuria |
|
Microcephaly, Gait disturbance, Lethargy, Failure to thrive |
ORPHA:26 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Difficulty walking, Contractures of the joints of the lower limbs, Lethargy, Paralysis |
OMIM:613710 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Cryptorchidism, Insulin resistance, Hepatic steatosis, Flexion contracture, Lipodystrophy, Hepato... |
OMIM:615381 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Stereotypy, Obesity |
OMIM:613886 |
| Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Polycythemia Vera |
|
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... |
OMIM:263300 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Cirrhosis, Decreased serum leptin, Decreased fertility in females, Hyperinsulinemia, Hepatic stea... |
OMIM:269700 |
| Hypophosphatasia |
|
Irritability, Hypercalcemia, Anemia |
ORPHA:436 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity |
ORPHA:217012 |
| Spinocerebellar Ataxia Type 38 |
|
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia |
ORPHA:423296 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Diabetic ketoacidosis |
OMIM:618858 |
| Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Breast hypoplasi... |
ORPHA:785 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... |
ORPHA:98870 |
| Narcolepsy Type 1 |
|
Slurred speech, Excessive daytime somnolence, Cataplexy, Obesity |
ORPHA:2073 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, Hepatomegaly, Hypertr... |
OMIM:615238 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Tremor, Dysphagia, Gait disturbance, Impaired distal vibration sensation, Fasc... |
ORPHA:276435 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Cirrhosis, Decreased serum leptin, Decreased fertility in females, Hyperinsulinemia, Hepatic stea... |
OMIM:608594 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Maturity-onset diabetes of the young, Cryptorchidism, Truncal obesity, Smal... |
ORPHA:96184 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Hypoplasia of the corpus callosum, ... |
ORPHA:93952 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Confusion, Lethargy, Hemiparesis |
OMIM:617900 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Gait disturbance, Obesity |
ORPHA:436141 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Tremor, Lethargy, Ataxia, Decreased serum testosterone concentration, Failure to thrive, Hypogona... |
OMIM:201100 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Cerebral atrophy |
OMIM:615924 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Failure ... |
OMIM:220111 |
| Hemochromatosis Type 2 |
|
Lethargy, Impotence, Hypogonadism, Diabetes mellitus, Abnormality of endocrine pancreas physiology |
ORPHA:79230 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Hypogonadism, Sp... |
OMIM:615768 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls |
ORPHA:494526 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... |
ORPHA:276152 |
| Alstrom Syndrome |
|
Hyperinsulinemia, Multinodular goiter, Chronic active hepatitis, Hypergonadotropic hypogonadism, ... |
OMIM:203800 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotropin concen... |
ORPHA:98754 |
| Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Primary amenorrhea |
OMIM:615363 |
| Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Truncal obesity, Failure to thrive, Decreased testicular size, Hypogonadism, Prem... |
ORPHA:261483 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Progressive neurologic deterioration, Gait disturbance, Coronary artery atherosclerosis, Type I d... |
ORPHA:1192 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls |
OMIM:616921 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Delayed puberty, Diarrhea, Elevated circulating creatine kinase concentrati... |
ORPHA:370 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... |
OMIM:619041 |
| Prader-Willi Syndrome |
|
Central hypothyroidism, Decreased circulating gonadotropin concentration, Precocious puberty, Pre... |
ORPHA:739 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... |
OMIM:605814 |
| Craniopharyngioma |
|
Coma, Polyphagia, Abnormal hypothalamus morphology, Enlarged pituitary gland, Excessive daytime s... |
ORPHA:54595 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Decreased plasma carnitine, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypogl... |
ORPHA:71212 |
| Pituitary Stalk Interruption Syndrome |
|
Cryptorchidism, Adrenal hypoplasia, Hypothyroidism, Ectopic posterior pituitary, Primary amenorrh... |
ORPHA:95496 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotropin concen... |
ORPHA:98793 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
| Pyruvate Dehydrogenase Deficiency |
|
Dystonia, Tremor, Lethargy, Aplasia/Hypoplasia of the corpus callosum, Gait disturbance, Abnormal... |
ORPHA:765 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Polyphagia, Obesity |
ORPHA:177910 |
| Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Cirrhosis, Increased hepatic echogenicity, Hepatic steatosis, Portal hypert... |
OMIM:278000 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Hypoglycemia, Truncal obesity, Small for gestational age, Failure to thrive, ... |
ORPHA:73272 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotropin concen... |
ORPHA:177904 |
| Prader-Willi Syndrome |
|
Abdominal obesity, Infertility, Hyperinsulinemia, Polyphagia, Oligomenorrhea, Poor fine motor coo... |
OMIM:176270 |
| Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity |
OMIM:615987 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotropin concen... |
ORPHA:177901 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypogonadism, Abnormality of the thyroid gland, Type II diabetes mellitus, Decreased testicular s... |
ORPHA:2234 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Chorea, Lethargy, Ataxia, Bradykinesia |
OMIM:618683 |
| Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Infertility, Hypoglycemia |
OMIM:615962 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Primary amenorrhea, Diarrhea, Hypogonadotropic hypogonadism... |
OMIM:600955 |
| Glycine Encephalopathy |
|
Lethargy, Agenesis of corpus callosum, Myoclonus, Hyperactivity |
OMIM:605899 |
| Spinal Muscular Atrophy, Jokela Type |
|
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment |
OMIM:615048 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hernia of the abdominal wall, Aplasia/Hypoplasia of the testes, Obesity |
ORPHA:3055 |
| Citrullinemia Type Ii |
|
Hypercholesterolemia, Hypoproteinemia, Decreased body mass index, Hepatic steatosis, Hepatocellul... |
ORPHA:247585 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Lethargy, Dystonia, Rigidity, Dysphagia, Hyperkinetic movements, Limb hypertonia, Choreoa... |
OMIM:233910 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
| Central Precocious Puberty |
|
Hypothalamic hamartoma, Increased circulating gonadotropin level, Overgrowth, Isosexual precociou... |
ORPHA:759 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Puberty and gonadal disorders, Dystonia, Cerebral white matter atrophy, Difficulty walking, Hypop... |
ORPHA:464282 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Constipation, Flexion contracture, Lipod... |
OMIM:613327 |
| Graves Disease, Susceptibility To, 1 |
|
Graves disease, Goiter, Polyphagia, Weight loss, Hyperactivity |
OMIM:275000 |
| Early Myoclonic Encephalopathy |
|
Dysphagia, Lethargy, Myoclonus |
ORPHA:1935 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased LDL cholesterol concentration, Decrea... |
OMIM:607616 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Failure to thrive |
OMIM:610090 |
| Dopa-Responsive Dystonia |
|
Inability to walk, Tremor, Dystonia, Lethargy, Abnormality of extrapyramidal motor function, Diff... |
ORPHA:255 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age |
OMIM:606176 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... |
ORPHA:216873 |
| Encephalopathy, Recurrent, Of Childhood |
|
Lethargy, Truncal ataxia, Incoordination, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... |
OMIM:130950 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Hypergonadotropic hypogonadism, Tremor, Ataxia, Spasticity |
OMIM:614307 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Dystonia, Dysphagia, Hypertonia, Myoclonus, Cerebral calcification, Microcephaly, Choreoa... |
OMIM:261630 |
| Carnitine Deficiency, Systemic Primary |
|
Coma, Lethargy, Excessive daytime somnolence, Impaired gluconeogenesis, Hypoglycemia, Confusion, ... |
OMIM:212140 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver dis... |
OMIM:616828 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatomegaly, Splenomegaly |
OMIM:614480 |
| Cortisone Reductase Deficiency 1 |
|
Infertility, Precocious puberty, Oligomenorrhea, Obesity |
OMIM:604931 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Cirrhosis, Hepatocellular carcinoma, Hypoglycemia, Hepatic fibrosis, Hepatomegaly, Delayed pubert... |
ORPHA:369 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Confusion, Lethargy, Hemiparesis |
OMIM:613002 |
| Hyperprolactinemia |
|
Infertility, Menorrhagia, Increased circulating prolactin concentration, Oligomenorrhea |
OMIM:615555 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Hypothyroidism, Nausea, Hypopituitarism, Vomiting, Hyperglycemia |
ORPHA:90065 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Lethargy, Hypoglycemia, Ataxia, Failure to thrive, Microcephaly, Spasticity |
ORPHA:2394 |
| Angelman Syndrome |
|
Inability to walk, Tremor, Polyphagia, Dysphagia, Ataxia, Obesity, Cerebral cortical atrophy, Pre... |
ORPHA:72 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Dementia, Depression, Apathy, Gait disturbance, Bradyphrenia, Dysphagia, Emotional lability, Moto... |
ORPHA:136 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Hypoplasia of the corpus callosum, Tremor, Ataxia, Spasticity |
OMIM:616494 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria |
OMIM:618857 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Failure to thrive, Decreased r... |
OMIM:606407 |
| Dysbetalipoproteinemia |
|
Xanthelasma, Hypercholesterolemia, Hypothyroidism, Hepatic steatosis, Acute pancreatitis, Hepatom... |
ORPHA:412 |
| Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Obesity |
OMIM:615983 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Gaba-Transaminase Deficiency |
|
Lethargy, Agenesis of corpus callosum, Tall stature |
OMIM:613163 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| 48,Xxyy Syndrome |
|
Infertility, Abnormal dental enamel morphology, Tremor, Azoospermia, Hypergonadotropic hypogonadi... |
ORPHA:10 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Tremor, Dystonia, Rigidity, Dysphagia, Hypertonia, Excessive daytime somnolence, Bradykinesia, At... |
OMIM:261640 |
| Late-Onset Isolated Acth Deficiency |
|
Lethargy, Hyponatremia, Hyperuricemia, Hypoglycemia, Normocytic anemia, Hypercalcemia, Type I dia... |
ORPHA:199299 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Paresthesia, Lethargy |
ORPHA:49827 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Hemolytic anemia, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hepa... |
OMIM:611590 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Stereotypy, Progres... |
OMIM:617862 |
| Segawa Syndrome, Autosomal Recessive |
|
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... |
OMIM:605407 |
| Prader-Willi-Like Syndrome |
|
Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotropin concen... |
ORPHA:398073 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia |
OMIM:201910 |
| Man1B1-Cdg |
|
Truncal obesity, Polyphagia, Resting tremor, Broad-based gait |
ORPHA:397941 |
| Mental Retardation, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
| Fish-Eye Disease |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... |
OMIM:136120 |
| Mental Retardation, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Kleine-Levin Hibernation Syndrome |
|
Confusion, Episodic hypersomnia, Polyphagia |
OMIM:148840 |
| Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Basal ganglia c... |
OMIM:612462 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Inability to walk, Hypoplasia of the corpus callosum, Cerebral atrophy, Ataxia, Obesity, Unsteady... |
OMIM:618443 |
| Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Camptodactyly of toe, Umbilical hernia, Inguinal hernia, Joint contracture of the... |
OMIM:175700 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Tremor, Dystonia, Cerebral atrophy, Bradykinesia, Ankle clonus, Progressive inability to walk, Mu... |
ORPHA:521406 |
| 2Q23.1 Microdeletion Syndrome |
|
Polyphagia, Ataxia, Stereotypy, Hyperactivity, Microcephaly |
ORPHA:228402 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... |
ORPHA:101110 |
| Pediatric-Onset Graves Disease |
|
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Tremor, Po... |
ORPHA:525731 |
| Hypogonadotropic Hypogonadism 24 Without Anosmia |
|
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism |
OMIM:229070 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
| Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume |
OMIM:252270 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Cryptorchidism, Hypoglycemia, Congenital hypothyroidism, Failure to thrive, Precocious puberty |
OMIM:614736 |
| Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia |
ORPHA:35 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... |
ORPHA:98762 |
| Central Neurocytoma |
|
Coma, Lethargy, Paresthesia, Pain insensitivity, Ataxia, Cerebral calcification, Babinski sign, A... |
ORPHA:73256 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... |
ORPHA:363710 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... |
ORPHA:98769 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... |
ORPHA:453533 |
| Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Fasting hypoglycemia, Postprandial hyperglycemia, Hepatocellular carcinoma, Imp... |
ORPHA:2088 |
| Retinitis Pigmentosa 71 |
|
Pancreatitis, Obesity |
OMIM:616394 |
| Bardet-Biedl Syndrome 7 |
|
Obesity |
OMIM:615984 |
| Hemochromatosis, Neonatal |
|
Cirrhosis, Hepatocellular necrosis, Hypoglycemia, Cholestasis, Hepatic fibrosis, Prolonged neonat... |
OMIM:231100 |
| Laurence-Moon Syndrome |
|
Ataxia, Type II diabetes mellitus, Obesity |
ORPHA:2377 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Abnormal cerebral white matter morphology, Flexion contracture, Lethargy, Failure to thrive |
OMIM:201470 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Dysmetria, Hypera... |
OMIM:618090 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elbow flexion contractu... |
OMIM:616516 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypothyroidism, Hepatic steatosis, Hypopituitarism, Hypertriglyceridemia, Hypoalbuminemia, Microc... |
OMIM:619013 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Cerebral atrophy, Hypoalbuminemia |
OMIM:607250 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hyponatremia, Hypochloremia |
OMIM:214700 |
| Gangliocytoma |
|
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Paresthesi... |
ORPHA:251937 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Failure to thrive, Ataxia, Abnormal cerebral white matter morphology |
OMIM:618951 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor |
OMIM:608687 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Anemia |
ORPHA:2668 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hepatic steatosis, Hypoglycemia, Failure to thrive |
OMIM:619048 |
| Acth Deficiency, Isolated |
|
Fasting hypoglycemia, Adrenal hypoplasia, Decreased circulating cortisol level, Cholestasis, Jaun... |
OMIM:201400 |
| Hypermanganesemia With Dystonia 2 |
|
Tremor, Dystonia, Gait disturbance, Flexion contracture, Cerebral atrophy, Bradykinesia, Ankle cl... |
OMIM:617013 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Hypogonadism, Decreased fertility, Abnormal testis morphology, Obesity |
ORPHA:2233 |
| Dystonia, Dopa-Responsive |
|
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... |
OMIM:128230 |
| Sheehan Syndrome |
|
Pituitary hypothyroidism, Abnormal size of pituitary gland, Obesity, Adrenocorticotropin deficien... |
ORPHA:91355 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Unsteady gait, Premature ovarian insufficiency, Distal sensory impairment, Obesity |
OMIM:618124 |
| Familial Pseudohyperkalemia |
|
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... |
ORPHA:90044 |
| Mental Retardation, Autosomal Dominant 55, With Seizures |
|
Tremor, Gait ataxia |
OMIM:617831 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Coma, Lethargy, Impaired vibratory sensation, Spastic paraparesis, Poor coordination, Abnormal py... |
OMIM:238970 |
| Immunodeficiency 61 |
|
Attention deficit hyperactivity disorder, Obesity |
OMIM:300310 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Lethargy, Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Ga... |
OMIM:615838 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:614741 |
| Behr Syndrome |
|
Tremor, Gait disturbance, Ataxia, Achilles tendon contracture, Adductor longus contractures, Dysm... |
OMIM:210000 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Jaundice, Cirrhosis, Hypoglycemia, Failure to thrive |
OMIM:617049 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Breast hypoplasia, Absence of secondary sex characteristics, Primary amenorrhea, Obesity, Hypotha... |
ORPHA:2235 |
| Pseudohypoparathyroidism, Type Ia |
|
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Basal ganglia c... |
OMIM:103580 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign, Diffuse c... |
OMIM:615362 |
| Analbuminemia |
|
Hypercholesterolemia, Elevated circulating transferrin concentration, Lipodystrophy, Hypoalbumine... |
OMIM:616000 |
| Wolfram-Like Syndrome |
|
Male hypogonadism, Glucose intolerance, Hypothyroidism, Progressive cerebellar ataxia, Delayed pu... |
ORPHA:411590 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Myoclonus, Ataxia |
OMIM:618225 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Decreased serum testosterone concentrat... |
OMIM:300869 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Ataxia, Hyperprolinemia |
OMIM:239500 |
| Polycystic Ovary Syndrome 1 |
|
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries, Obesity |
OMIM:184700 |
| Kallmann Syndrome With Spastic Paraplegia |
|
