| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... |
OMIM:601820 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... |
ORPHA:171706 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Infertility, Hyperinsulinemia, Lipoatrophy, Loss of gluteal ... |
ORPHA:280356 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... |
OMIM:619855 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... |
ORPHA:324575 |
| Morbid Obesity And Spermatogenic Failure |
|
Infertility, Type II diabetes mellitus, Azoospermia, Increased LDL cholesterol concentration, Dec... |
OMIM:615703 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Large for gestational age, Truncal obesity |
OMIM:240900 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Insulin resista... |
OMIM:604367 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:606762 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276580 |
| Insulinoma |
|
Fluctuations in consciousness, Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyper... |
ORPHA:97279 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... |
OMIM:608600 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus |
OMIM:613375 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276575 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... |
OMIM:262400 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... |
ORPHA:276556 |
| Hypoglycemia, Leucine-Induced |
|
Ataxia, Hyperinsulinemic hypoglycemia, Coma, Hypoglycemia, Drowsiness, Spasticity |
OMIM:240800 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
| Multiple Symmetric Lipomatosis |
|
Abnormal adipose tissue morphology, Insulin resistance, Multiple lipomas, Gait disturbance, Pares... |
ORPHA:2398 |
| Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ... |
ORPHA:314811 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... |
OMIM:232700 |
| Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... |
OMIM:610947 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Constipation, Secondary amenorrhea, Hypercholesterolemia, Inappropriately normal thyroid-stimulat... |
OMIM:301033 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... |
OMIM:612526 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... |
ORPHA:181393 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Lipoatrophy, Polycystic ovaries, Diabetes mellitus,... |
ORPHA:79084 |
| Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
| Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:151660 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Insulin resistance, Oligomenorrhea, Decreased serum leptin, Hypertr... |
ORPHA:79085 |
| Huntington Disease |
|
Gait imbalance, Inability to walk, Babinski sign, Chorea, Difficulty walking, Abnormal libido, Ex... |
ORPHA:399 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia |
OMIM:601410 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Oligomen... |
ORPHA:435651 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
| Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Insulin resistance, Loss ... |
ORPHA:435660 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
| Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... |
ORPHA:79237 |
| Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314802 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Irregular menstruation, Decreased... |
OMIM:615238 |
| Hyperostosis Frontalis Interna |
|
Increased circulating prolactin concentration, Obesity, Irregular menstruation, Diabetes mellitus |
OMIM:144800 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... |
OMIM:617885 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... |
OMIM:615954 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Diarrhea, Vomiting, Hypoglycemia |
OMIM:606528 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
| Congenital Generalized Lipodystrophy |
|
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Pro... |
ORPHA:528 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Hypergon... |
OMIM:614963 |
| Temple Syndrome |
|
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... |
OMIM:616222 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
| Glut1 Deficiency Syndrome 1 |
|
Ataxia, Myoclonus, Babinski sign, Confusion, Hemiparesis, Paroxysmal lethargy, Choreoathetosis, S... |
OMIM:606777 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis |
OMIM:261650 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Polyphagia, Hyperinsulinemia, Tall stature |
OMIM:618406 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Polyphagia, Hyperinsulinemia |
ORPHA:329249 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Ataxia, Reduced intraabdominal adipose tissue, Hyperinsuline... |
ORPHA:363400 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Cyanosis, Confusion, Hemiparesis, Chore... |
ORPHA:71277 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Polyphagia, Hyperinsulinemia, Obesity |
ORPHA:369873 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Oligomenorrhea, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mell... |
OMIM:613877 |
| X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
| Hyperlysinemia, Type I |
|
Anemia, Hyperlysinemia, Hyperactivity, Cognitive impairment |
OMIM:238700 |
| Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Spasticity, Dystonia, Lethargy |
OMIM:617829 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Failure to thrive, Hepatomegaly |
ORPHA:67046 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... |
OMIM:609734 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... |
ORPHA:263455 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Diabetes ... |
OMIM:610717 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepat... |
OMIM:617872 |
| Mehmo Syndrome |
|
Inability to walk, Decreased response to growth hormone stimulation test, Small for gestational a... |
OMIM:300148 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... |
OMIM:262190 |
| Leptin Deficiency Or Dysfunction |
|
Primary amenorrhea, Decreased serum leptin, Abnormal eating behavior, Polyphagia, Hypogonadism, O... |
OMIM:614962 |
| Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitarism, Glucose intolerance |
OMIM:144600 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitarism, Glucose intolerance |
OMIM:145750 |
| Classic Galactosemia |
|
Gait imbalance, Ataxia, Action tremor, Clumsiness, Primary amenorrhea, Oligomenorrhea, Decreased ... |
ORPHA:79239 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Infertility, Type II diabetes mellitus, Precocious puberty,... |
ORPHA:398079 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... |
ORPHA:436182 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adren... |
OMIM:262700 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Decreased response to growth hormone stimulation test, Truncal obesity |
OMIM:618160 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Hypogonadism, Central hypothyroidism |
OMIM:616113 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Encephalopathy, Recurrent, Of Childhood |
|
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordinati... |
OMIM:130950 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Mandibuloacral Dysplasia |
|
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... |
ORPHA:2457 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... |
ORPHA:2298 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Secondary a... |
ORPHA:3085 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Temple Syndrome |
|
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Developmental And Epileptic Encephalopathy 40 |
|
Small for gestational age, Myoclonus, Choreoathetosis, Spasticity, Spastic tetraparesis, Lethargy |
OMIM:617065 |
| Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin, Hypogonadism, Obesity, Ab... |
ORPHA:791 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Dystonia, Lethargy |
OMIM:618224 |
| Perlman Syndrome |
|
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly, Tall stature, Inguinal hernia, Femo... |
ORPHA:2849 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Adrenal calcification, Cirrhosis, Diarrhea, Hypertriglyceridemia, Hyp... |
ORPHA:75234 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Ovari... |
OMIM:246200 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Bradykinesia, Oculogyric crisis, Babinski sign, Parkinsonism, Rigidity, Myoclonus, Gait a... |
ORPHA:101150 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypoglycemia, Ataxia, Dystonia, Lethargy |
OMIM:246900 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Bardet-Biedl Syndrome 11 |
|
Obesity, Hypogonadism |
OMIM:615988 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Obesity, Cryptorchidism, Hypogonadism |
ORPHA:85274 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperlipidemia, Hy... |
OMIM:248370 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... |
OMIM:615234 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Abnormal pyramidal sign, Tremor, Unsteady gait, Incoordination, Obesity |
OMIM:614947 |
| Neonatal Hemochromatosis |
|
Hypoglycemia, Prolonged neonatal jaundice, Congenital hepatic fibrosis |
ORPHA:446 |
| Galactosemia |
|
Gait imbalance, Failure to thrive, Ataxia, Action tremor, Primary amenorrhea, Oligomenorrhea, Gai... |
ORPHA:352 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Primary amenorrhea, Delayed puberty, Delayed thelarche, Dorsocervi... |
OMIM:616033 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Flexion contracture, Loss of truncal subcu... |
OMIM:608612 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... |
OMIM:262600 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypertonia, Failure to thrive, Ketotic hypoglycemia, Dystonia, Lethargy |
ORPHA:26792 |
| Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia |
OMIM:617018 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... |
OMIM:614561 |
| Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Hypoglycemia, Pancreatic hypoplasia, Diab... |
OMIM:609069 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy, Difficulty walking, Paralysis, Distal sensory impairment |
OMIM:613710 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Failure to thrive, Ataxia, Lethargy |
ORPHA:622 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Amenorrhea, Testicular atrophy, Cholangiocarcinoma,... |
ORPHA:465508 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Meningioma |
|
Amenorrhea, Enlarged pituitary gland, Impotence, Decreased serum testosterone concentration, Redu... |
ORPHA:2495 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Infertility, Type II diabetes mellitus, Precocious puberty,... |
ORPHA:398069 |
| Post-Traumatic Pituitary Deficiency |
|
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... |
ORPHA:95619 |
| Gaisböck Syndrome |
|
Peripheral arterial stenosis, Stroke, Increased hematocrit, Elevated plasma cell count, Hyperprot... |
ORPHA:90041 |
| Bardet-Biedl Syndrome 12 |
|
Obesity, Hypogonadism |
OMIM:615989 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Obesity, Ataxia, Polyphagia |
ORPHA:411515 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hypoglycemia, Jaundice |
OMIM:617156 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Insulin resistance, Cirrhosis, Dysmenorrhe... |
ORPHA:79083 |
| Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Spinocerebellar Ataxia 37 |
|
Ataxia, Frequent falls, Tremor, Unsteady gait, Dysphagia |
OMIM:615945 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirub... |
OMIM:619868 |
| Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Small for gestational age, Episodic vomiting, Adrenocortical hypoplasia, H... |
OMIM:307030 |
| Mpi-Cdg |
|
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diarrhea, Vomiting, Hypothyroidis... |
ORPHA:79319 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Type I diabetes mellitus... |
OMIM:620044 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... |
OMIM:277410 |
| Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Polyphagia, Hypogonadism |
OMIM:617119 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Obesity, Precocious puberty, Hypercholesterolemia |
ORPHA:254531 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Coma, Confusion, Hemiparesis, Tremor, Drowsiness |
OMIM:141500 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Flexion contracture, Babinski sign, Tremor, Spasticity |
OMIM:611105 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Cryptorchidism |
OMIM:309585 |
| Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Diarrhea, Vomiting, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
| Endocardial Fibroelastosis |
|
Hypoglycemia, Cryptorchidism, Anterior hypopituitarism |
ORPHA:2022 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Broad-based gait, Ataxia, Inability to walk, Waddling gait, Obesity, Lower limb spasticity, Dystonia |
OMIM:616756 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age |
OMIM:618858 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Hepatic steatosis, Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol c... |
OMIM:616829 |
| Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Insulin resistance, Cir... |
ORPHA:79086 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Patent ductus arteriosus, Hypercalcemia |
ORPHA:2123 |
| Macrosomia Adiposa Congenita |
|
Adrenocortical adenoma, Obesity, Polyphagia, Large for gestational age |
OMIM:248100 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Irregular menstruation, Truncal obesity, Polyphagia, Obesity, Hyperglycemia |
OMIM:615986 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Insulin resistance, Lipoatrophy, Dysmenorrh... |
ORPHA:2348 |
| Polycythemia Vera |
|
Increased hematocrit, Cerebral hemorrhage, Leukocytosis, Splenomegaly, Increased red blood cell m... |
OMIM:263300 |
| Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Obesity, Pseudoh... |
OMIM:603233 |
| Rhabdoid Tumor |
|
Anemia, Thrombocytopenia, Irritability, Hypercalcemia |
ORPHA:69077 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Leukoencephalopathy With Vanishing White Matter |
|
Primary amenorrhea, Gait disturbance, Secondary amenorrhea, Spasticity, Unsteady gait, Primary go... |
OMIM:603896 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... |
OMIM:616689 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Lipodystrophy, Secondary amenorr... |
ORPHA:280365 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Bradykinesia, Resting tremor, Flexion contracture, Babinski sign, Parkinsonism, Wrist fle... |
OMIM:300055 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... |
ORPHA:251282 |
| Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Gait disturbance, Failure to thrive, Lethargy |
ORPHA:79283 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Bradyphrenia, Apathy, Stroke, Cerebral hemorrhage, Cognitive impairment, Depression, Intracranial... |
ORPHA:136 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, Decreased tes... |
OMIM:610628 |
| 6Q16 Microdeletion Syndrome |
|
Broad-based gait, Obesity, Polyphagia, Poor coordination |
ORPHA:171829 |
| Laron Syndrome |
|
Abnormality of the endocrine system, Truncal obesity, Hypoglycemia, Delayed puberty, Hypercholest... |
ORPHA:633 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... |
OMIM:615980 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Coma... |
OMIM:607483 |
| Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Truncal obesity, Decreased testicular size, Hypogonadism, Cryptorchidism, Prem... |
ORPHA:261483 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... |
ORPHA:90674 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Diarrhea, Vomiting, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Increa... |
ORPHA:264580 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... |
OMIM:615710 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Cerebral artery atherosclerosis, Progressive neurologic deterioration, Gait disturbance, Tremor, ... |
ORPHA:1192 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Inability to walk, Limb fasciculations, Distal sensory impairment, Tremor, Somatic sensory dysfun... |
ORPHA:90117 |
| Hypophosphatasia |
|
Anemia, Irritability, Hypercalcemia |
ORPHA:436 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
OMIM:608594 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Flexion contracture, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Insuli... |
OMIM:615381 |
| Narcolepsy Type 1 |
|
Excessive daytime somnolence, Obesity, Cataplexy, Slurred speech |
ORPHA:2073 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Small for gestational age, Maturity-onset diabetes of the young, Truncal obes... |
ORPHA:96184 |
| Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Tall stature, Absence of pubertal development, Primary ame... |
ORPHA:785 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ... |
OMIM:616860 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Ataxia, Bradykinesia, Chorea |
OMIM:618683 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Motor stereotypy, Obesity, Polyphagia |
OMIM:613886 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... |
OMIM:269700 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid... |
OMIM:220111 |
| Retinohepatoendocrinologic Syndrome |
|
Maturity-onset diabetes of the young, Infertility, Degenerative liver disease, Hypothyroidism |
OMIM:268040 |
| Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Primary amenorrhea, Impaired glucose tolerance |
OMIM:615363 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Failure to thrive, Ataxia, Babinski sign, Dysphagia, Dystonia, Lethargy |
OMIM:618226 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance |
OMIM:300660 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Choreoathetosis, Dystonia, Lethargy, Episodic ataxia |
OMIM:312170 |
| Severe Canavan Disease |
|
Inability to walk, Decerebrate rigidity, Babinski sign, Spasticity, Lethargy, Oral-pharyngeal dys... |
ORPHA:314911 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... |
OMIM:605814 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Alstrom Syndrome |
|
Hyperinsulinemia, Hepatomegaly, Decreased response to growth hormone stimulation test, Chronic ac... |
OMIM:203800 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Dysphagia, Dystonia, ... |
OMIM:233910 |
| Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... |
ORPHA:276152 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... |
ORPHA:71212 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Diarrhea, Vomiting, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Portal... |
ORPHA:370 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... |
OMIM:619755 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| Pituitary Stalk Interruption Syndrome |
|
Failure to thrive, Abnormality of the hypothalamus-pituitary axis, Primary amenorrhea, Hypoglycem... |
ORPHA:95496 |
| Schaaf-Yang Syndrome |
|
Inability to walk, Flexion contracture, Camptodactyly, Polyphagia, Arthrogryposis multiplex conge... |
OMIM:615547 |
| Central Precocious Puberty |
|
Hypothalamic hamartoma, Premature thelarche, Isosexual precocious puberty, Overgrowth, Increased ... |
ORPHA:759 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction |
ORPHA:423296 |
| Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Abnormality of the thyroid gland, Hypothyroidism, Hyperurice... |
ORPHA:77296 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation |
ORPHA:217012 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Type II diabetes mellitus, Abnormality of the thyroid gland, Eunuchoid habitus, Decreased testicu... |
ORPHA:2234 |
| Dopa-Responsive Dystonia |
|
Leg dystonia, Inability to walk, Poor coordination, Abnormality of extrapyramidal motor function,... |
ORPHA:255 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular ca... |
ORPHA:369 |
| Developmental And Epileptic Encephalopathy 41 |
|
Lethargy, Inability to walk, Spasticity, Flexion contracture |
OMIM:617105 |
| Methylmalonic Acidemia With Homocystinuria |
|
Gait disturbance, Failure to thrive, Lethargy |
ORPHA:26 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Hemochromatosis Type 2 |
|
Impotence, Abnormality of endocrine pancreas physiology, Hypogonadism, Diabetes mellitus, Lethargy |
ORPHA:79230 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Diarrhea, Primary amenorrhea... |
OMIM:600955 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Macrocytic anemia, Hyperhomocy... |
ORPHA:2169 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Polyphagia, Obesity |
ORPHA:177910 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
| Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Hyperglycemia |
OMIM:520000 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Lethargy |
OMIM:618573 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Falls |
OMIM:615883 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Hyperglycemia |
OMIM:619737 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Failure to thrive |
OMIM:610090 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vomiting, Hypothyroidism, Nausea, Hypercholesterolemia, Hypopituitarism, Hyperglycemia |
ORPHA:90065 |
| Bardet-Biedl Syndrome 10 |
|
Obesity, Hypogonadism |
OMIM:615987 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Steatorrhea, Diarrhea, Vomiting, Hepatic bridging fibrosis, Adrenal insufficiency, ... |
OMIM:278000 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central adrenal insufficiency, Primary amenorrhea, Decreased inhibin B level, Precocious puberty,... |
ORPHA:98754 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Fasciculations, Gait disturbance, Tremor, Impaired distal vibration sensation,... |
ORPHA:276435 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Small for gestational age |
OMIM:618857 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia, Premature ovarian insufficiency |
OMIM:615889 |
| Dysbetalipoproteinemia |
|
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, H... |
ORPHA:412 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Gait disturbance, Obesity |
ORPHA:436141 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c... |
OMIM:616828 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Steatorrhea, Cirrhosis, Diarrhea,... |
OMIM:602579 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Recurrent hypoglycemia... |
ORPHA:79240 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Go... |
ORPHA:231720 |
| Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Infertility, Irregular menstruation |
OMIM:615962 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central adrenal insufficiency, Primary amenorrhea, Decreased inhibin B level, Precocious puberty,... |
ORPHA:98793 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... |
ORPHA:189427 |
| Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... |
ORPHA:247585 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central adrenal insufficiency, Primary amenorrhea, Decreased inhibin B level, Precocious puberty,... |
ORPHA:177904 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Type II diabetes mellitus, Coma, Central adrenal insufficiency, Abnorma... |
ORPHA:54595 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central adrenal insufficiency, Primary amenorrhea, Decreased inhibin B level, Precocious puberty,... |
ORPHA:177901 |
| Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia |
ORPHA:94086 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait, Hypo... |
OMIM:615768 |
| Hyperprolactinemia |
|
Increased circulating prolactin concentration, Infertility, Oligomenorrhea, Menorrhagia |
OMIM:615555 |
| Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Coma, Confusion, Hypoglycemia, Impaired gluconeogenesis, Excessive daytime som... |
OMIM:212140 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Hypogonad... |
ORPHA:453533 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Cerebral hemorrhage, Splenomegaly, Increased red blood cell mass, Increased... |
OMIM:133100 |
| Bardet-Biedl Syndrome 5 |
|
Obesity, Hypogonadism |
OMIM:615983 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus,... |
OMIM:604360 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
| Pyruvate Dehydrogenase Deficiency |
|
Ataxia, Cerebral palsy, Abnormal pyramidal sign, Multiple lipomas, Gait disturbance, Tremor, Chor... |
ORPHA:765 |
| Early Myoclonic Encephalopathy |
|
Dysphagia, Myoclonus, Lethargy |
ORPHA:1935 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:615924 |
| Kleine-Levin Hibernation Syndrome |
|
Episodic hypersomnia, Polyphagia, Confusion |
OMIM:148840 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paresthesia, Lethargy, Diabetes mellitus |
ORPHA:49827 |
| X-Linked Intellectual Disability, Hedera Type |
|
Action tremor, Inability to walk, Dysmetria, Extrapyramidal muscular rigidity, Babinski sign, Fre... |
ORPHA:93952 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Cryptorch... |
OMIM:175700 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Failure to thrive, Ataxia, Hypoglycemia, Spasticity, Lethargy |
ORPHA:2394 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... |
ORPHA:216873 |
| Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hypergonadotropic hypog... |
OMIM:606407 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... |
ORPHA:189439 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Cryptorchidism |
OMIM:614736 |
| Prader-Willi-Like Syndrome |
|
Central adrenal insufficiency, Primary amenorrhea, Decreased inhibin B level, Abnormality of the ... |
ORPHA:398073 |
| Propionic Acidemia |
|
Hypoglycemia, Hepatomegaly |
ORPHA:35 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hypoglycemia, Failure to thrive, Hepatic steatosis, Hepatomegaly |
OMIM:619048 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Hypertonia, Failure to thrive, Tetraplegia, Lethargy |
OMIM:274270 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Hepatomegaly, Increased hepatic ... |
ORPHA:2088 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Loss of ambulation, Ataxia, Distal sensory impairment, Unsteady gait, Obesity, Impaired pain sens... |
OMIM:618124 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Ileus, Hyperinsulinemia, Hepatomegaly, Constipation, Flexion contracture, Sple... |
OMIM:613327 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
| Man1B1-Cdg |
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Broad-based gait, Polyphagia, Truncal obesity, Resting tremor |
ORPHA:397941 |
| Intrinsic Factor Deficiency |
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Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
| Blue Diaper Syndrome |
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Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
| Niemann-Pick Disease, Type B |
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Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL cholesterol co... |
OMIM:607616 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Cortisone Reductase Deficiency 1 |
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Infertility, Oligomenorrhea, Precocious puberty, Obesity |
OMIM:604931 |
| Dystonia, Dopa-Responsive |
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Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
| Late-Onset Isolated Acth Deficiency |
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Eosinophilia, Normocytic anemia, Macrocytic anemia, Hypoglycemia, Type I diabetes mellitus, Hyper... |
ORPHA:199299 |
| Polycystic Ovary Syndrome 1 |
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Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries, Obesity |
OMIM:184700 |
| Citrullinemia Type I |
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Torticollis, Failure to thrive, Ataxia, Coma, Ankle clonus, Spasticity, Slurred speech, Lethargy,... |
ORPHA:247525 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Intracranial hemorrhage, Hypercalcemia, Anemia, Irritability |
OMIM:241500 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
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Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Erythrocytosis, Familial, 2 |
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Stroke, Increased hematocrit, Cerebral hemorrhage, Increased red blood cell mass, Increased hemog... |
OMIM:263400 |
| Hemochromatosis, Neonatal |
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Hepatocellular necrosis, Cirrhosis, Cholestasis, Hypoglycemia, Hepatic fibrosis, Prolonged neonat... |
OMIM:231100 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
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Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Rigidity, Parkinsonism, Tremor, Chor... |
OMIM:261640 |
| Gangliocytoma |
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Abnormality of the pituitary gland, Amenorrhea, Pituitary null cell adenoma, Elevated circulating... |
ORPHA:251937 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
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Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
OMIM:616921 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
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Obesity, Decreased fertility, Abnormal testis morphology, Hypogonadism |
ORPHA:2233 |
| Prader-Willi Syndrome |
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Abdominal obesity, Failure to thrive, Infertility, Precocious puberty, Central adrenal insufficie... |
ORPHA:739 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
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Lethargy, Ataxia, Myoclonus |
OMIM:618225 |
| Acth Deficiency, Isolated |
|
Adrenocorticotropic hormone deficiency, Decreased circulating cortisol level, Cholestasis, Adrena... |
OMIM:201400 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
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Abdominal obesity, Decreased serum testosterone concentration, Cryptorchidism, Small for gestatio... |
OMIM:300869 |
| Non-Functioning Paraganglioma |
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Tremor, Panic attack, Cerebral hemorrhage, Hypercalcemia |
ORPHA:94080 |
| Kallmann Syndrome With Spastic Paraplegia |
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Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Hypogonadotropi... |
OMIM:308750 |
| Diarrhea 1, Secretory Chloride, Congenital |
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Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
| 48,Xxyy Syndrome |
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Motor stereotypy, Infertility, Ataxia, Type II diabetes mellitus, Azoospermia, Inguinal hernia, T... |
ORPHA:10 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
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Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
| Spinocerebellar Ataxia Type 15/16 |
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Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Sheehan Syndrome |
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Impotence, Constipation, Central adrenal insufficiency, Dyspareunia, Decreased circulating cortis... |
ORPHA:91355 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
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Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... |
ORPHA:2235 |
| Pseudohypoparathyroidism, Type Ic |
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Elevated circulating parathyroid hormone level, Hypothyroidism, Enamel hypoplasia, Hypocalcemic t... |
OMIM:612462 |
| Laurence-Moon Syndrome |
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Obesity, Ataxia, Type II diabetes mellitus |
ORPHA:2377 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
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Hypertriglyceridemia |
OMIM:618010 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hypercalcemia |
ORPHA:2668 |
| Glucocorticoid Deficiency 1 |
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Failure to thrive, Tall stature, Decreased circulating cortisol level, Increased circulating ACTH... |
OMIM:202200 |
| Abdominal Obesity-Metabolic Syndrome 4 |
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Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... |
OMIM:618620 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:614741 |
| Diamond-Blackfan Anemia 8 |
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Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
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Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
| Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Ataxia, Puberty and gonadal disorders, Difficulty walking, Progressive spastic paraplegia, Spasti... |
ORPHA:464282 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Postprandial hyperglycemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
| Segawa Syndrome, Autosomal Recessive |
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Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Coma, Cachexia, Hypoglycemia, Distal arthrogryposis, Lethargy, Loss of consciousness |
ORPHA:42 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... |
OMIM:616000 |
| Smith-Magenis Syndrome |
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Abnormality of the thyroid gland, Constipation, Hypertriglyceridemia, Hypercholesterolemia, Incre... |
OMIM:182290 |
| Spinocerebellar Ataxia Type 37 |
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Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... |
ORPHA:363710 |
| Mehmo Syndrome |
|
Obesity, Cryptorchidism, Diabetes mellitus |
ORPHA:85282 |
| Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
| Seckel Syndrome 10 |
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Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... |
OMIM:617253 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
| Glycine Encephalopathy |
|
Impulsivity, Irritability, Hyperactivity, Hyperglycinemia, Aggressive behavior, Lethargy |
OMIM:605899 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Myoclonus, Spasticity, Abnormality of extrapyramidal motor function, Lethargy |
OMIM:614299 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Gait imbalance, Ankle flexion contracture, Hypoglycemia, Lethargy |
OMIM:618120 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Lipoatrophy |
ORPHA:79087 |
| Gaba-Transaminase Deficiency |
|
Lethargy, Tall stature |
OMIM:613163 |
| Angelman Syndrome |
|
Broad-based gait, Ataxia, Inability to walk, Recurrent hand flapping, Precocious puberty in femal... |
ORPHA:72 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Polyp... |
OMIM:275000 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Fasting ... |
OMIM:613027 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypothyroidism, Hypertriglyceridemia, Hypoalbuminemia, Hypopituitarism, Hepat... |
OMIM:619013 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Decreased circulating follicle stimu... |
OMIM:229070 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Motor stereotypy, Failure to thrive, Ataxia, Coma, Delirium, Confusion, Paraplegia, Drowsiness, L... |
ORPHA:927 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Decreased body weight, Neonatal hypoglycemia, Small for gestational age |
ORPHA:231140 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralogy of Fallot, Macrocytic a... |
OMIM:612561 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Failure to thrive, Small for gestational age |
OMIM:614702 |
| Bardet-Biedl Syndrome 4 |
|
Obesity, Cryptorchidism, Hypogonadism |
OMIM:615982 |
| Riboflavin Deficiency |
|
Hypoglycemia, Lethargy |
OMIM:615026 |
| Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Hypothyroidism, Hypertriglyceridemia, Hypoglycemia, Hypoalbuminemia, Hypog... |
OMIM:617575 |
| Familial Pseudohyperkalemia |
|
