Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Abnormality of body weight, Short stature, Growth delay, Delayed puberty, Decreased... |
ORPHA:314811 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Intrauterine growth retardation, Severe short stature, Hypoglycemia |
OMIM:223500 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Short Stature Due To Partial Ghr Deficiency |
|
Growth delay, Hypoglycemia, Short stature, Delayed puberty |
ORPHA:314802 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Postnatal growth retardation, H... |
OMIM:232700 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Short stature |
ORPHA:366 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Severe postnatal growth retardation, Pituitary dwarfism, Hypoglycemia, Short stature |
OMIM:262700 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Short stature, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Growth dela... |
OMIM:620211 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Growth delay, Severe short stature, Hypoglycemia |
OMIM:262400 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... |
ORPHA:324575 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Diarrhea 13 |
|
Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short stature, Obesity, Growth delay, Fasting hypoglycemia, Abnormal circulating selenium concent... |
ORPHA:171706 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo... |
ORPHA:6 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... |
ORPHA:293964 |
3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, Hypoglycemia |
ORPHA:67046 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia |
ORPHA:446 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine grow... |
OMIM:613370 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Hypoglycemia, Small for gestational age, Hyperammonemia, Elevated circu... |
OMIM:615160 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Short stature, Hypoglycemia, Postnatal growth retardation, Decreased b... |
ORPHA:231140 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia, Short stature |
ORPHA:364 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Short stature, Small for gestational age, Insulin-resistant diabetes mellitus, Hype... |
OMIM:262190 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Failure to thrive, Hypoglycemia |
OMIM:610090 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Hypoketoti... |
ORPHA:276580 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased circulating fr... |
ORPHA:276556 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasem... |
OMIM:619386 |
Glycogen Storage Disease Ixb |
|
Growth delay, Hypoglycemia, Hyperuricemia, Short stature |
OMIM:261750 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Short stature, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Fail... |
ORPHA:2089 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Short stature |
OMIM:232400 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... |
ORPHA:276575 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Death in infancy, Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal deat... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal deat... |
OMIM:618839 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Postnatal growth retardation, Hypoglycemia |
OMIM:616111 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Fasting hypoglycemia, Hyperinsuli... |
ORPHA:276608 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Growth delay, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron, Abnormality of ... |
OMIM:231100 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Small for gestational age, Intrauterine growth retardation, Hypoglycemia |
ORPHA:231147 |
2P21 Microdeletion Syndrome |
|
Growth delay, Failure to thrive, Hypoglycemia, Hypocalcemia |
ORPHA:163693 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Hypoglycemia, Growth delay, Hyperglycinemia, Death in childhood, Neonatal death... |
OMIM:245400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hypoglycemia, Decreased plasma free carnitine, Hyperalaninemia, Failure to thrive, Intrauterine g... |
OMIM:619048 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood u... |
OMIM:617872 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:618120 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car... |
ORPHA:79159 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Death in infancy, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated ... |
OMIM:617049 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra... |
ORPHA:79096 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Intrauterine growth retardation, Failure to thr... |
ORPHA:26792 |
Mehmo Syndrome |
|
Small for gestational age, Hypoglycemia, Obesity, Birth length less than 3rd percentile, Delayed ... |
OMIM:300148 |
Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Hypoglycemia, Elevated circulating creatine kinase concentration, Small for ges... |
OMIM:619055 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hypoglycemia, Death in childhood |
OMIM:246900 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Failure to thrive, Hypoglycemia, Methylmalonic acidemia |
ORPHA:289504 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypoglycemia, Short stature, Hyperlipidemia, Growth delay, Delayed puberty, Failure to thrive |
ORPHA:369 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hyperalaninemia, Failure to thrive, Hypoglycemia |
OMIM:617950 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Hypoglycemia |
ORPHA:67048 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Hypoglycemia, Postnatal growth retardation, Growth delay, Fasting hypoglycemia |
OMIM:613027 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Short stature, Small for gestational age, Postnatal growth retardation, Insulin res... |
ORPHA:73272 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hypoglycemia, Hyperammonemia, Hyperalaninemia, Failure to thrive, Intr... |
OMIM:614702 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulati... |
OMIM:620300 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia |
OMIM:615026 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hypoglycemia |
OMIM:614741 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated circulating branched chain amino acid concentration, Hypoglycemia, Hyperammonemia, Hyper... |
ORPHA:2394 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Death in infancy, Hyperprolinemia, Hyperalaninemia, Failure to thrive, ... |
OMIM:619046 |
Galactokinase Deficiency |
|
Hypoglycemia, Small for gestational age, Hyperinsulinemia, Increased level of galactitol in plasm... |
ORPHA:79237 |
Blue Diaper Syndrome |
|
Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia,... |
ORPHA:94086 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Endocardial Fibroelastosis |
|
Hypoglycemia |
ORPHA:2022 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Decreased circulating free fatty acid level, Recurrent hypoglycemia, H... |
ORPHA:79644 |
Temple Syndrome |
|
Small for gestational age, Short stature, Postnatal growth retardation, Obesity, Recurrent hypogl... |
ORPHA:254516 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Small for gestational age, Postnatal growth retardation, Hypoglycemia, Short stature |
ORPHA:231137 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Proportionate short stature, Increased circulat... |
ORPHA:71212 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:300559 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Death in infanc... |
OMIM:619355 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia |
OMIM:266150 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Hyperammonemia |
OMIM:620137 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Elevated hemoglobin A1c, Short stature, Postnatal growth retardation, Type I diabet... |
OMIM:616113 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hyperalaninemia, Failure to thrive, Hypoglycemia, Hyperammonemia |
OMIM:614739 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Intrauterine growth retardation, Failure to thrive, Hypoglycemia |
OMIM:618958 |
Pituitary Stalk Interruption Syndrome |
|
Death in infancy, Hypoglycemia, Short stature, Delayed puberty, Failure to thrive |
ORPHA:95496 |
Laron Syndrome |
|
Severe short stature, Hypoglycemia, Truncal obesity, Delayed puberty, Hypercholesterolemia |
ORPHA:633 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Short stature, Large for gestational age, Hypophos... |
OMIM:616026 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Intrauterine growth retardation, Hypoglycemia, Short stature |
ORPHA:48431 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
Saccharopinuria |
|
Short stature, Hypercystinemia, Hyperammonemia, Abnormality of circulating enzyme level, Elevated... |
ORPHA:3124 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypoglycemia |
OMIM:300438 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Cachexia, Hyperammonemia, Decre... |
ORPHA:42 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Incre... |
ORPHA:263455 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating creatine kinase concentration, Hyperammonemia, Hypoketotic hypoglycemia |
OMIM:600649 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Silver-Russell Syndrome 2 |
|
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia |
OMIM:618905 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Small for gestational age, Conjugated hyperbilirubinemia, Postnatal growth retardat... |
OMIM:617093 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rick... |
ORPHA:2126 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hypoglycemia, Hyperammonemia, Growth delay, Hyperglycemia, Failure to thrive |
OMIM:615453 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Short stature, Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia |
OMIM:613986 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre... |
ORPHA:97279 |
Carnitine Deficiency, Systemic Primary |
|
Elevated circulating creatine kinase concentration, Hyperammonemia, Recurrent hypoglycemia, Impai... |
OMIM:212140 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:5 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Hypoglycemia, Small for gestational age, Proportionate short stature, Severe p... |
ORPHA:391408 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Intrauterine growth retardation, Hypoglycemia, Hyperammonemia |
OMIM:618253 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Impaired gluconeogenesis, Low plasma citrulline, Hypoglycemia, Fasting hypoglycemia |
OMIM:261680 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Death in infancy, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia,... |
OMIM:617156 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Hyperammonemia |
OMIM:616483 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia, Short stature |
OMIM:248360 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hypoglycemia, Hyperuricemia, Hyperammonemia, Death in childhood |
OMIM:246450 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Failure to thrive, Hypoglycemia |
OMIM:210200 |
Proprotein Convertase 1/3 Deficiency |
|
Obesity, Hypoinsulinemia, Reactive hypoglycemia |
OMIM:600955 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Failure to thrive |
OMIM:251000 |
Propionic Acidemia |
|
Short stature, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Failure to thrive |
OMIM:606054 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypoglycemic seizures |
ORPHA:199296 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Neonatal hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamm... |
OMIM:212138 |
Hypotonia-Cystinuria Syndrome |
|
Postnatal growth retardation, Failure to thrive, Hypocalcemia, Neonatal hypoglycemia |
OMIM:606407 |
Carnitine Palmitoyltransferase I Deficiency |
|
Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Hyp... |
OMIM:255120 |
Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia |
ORPHA:453533 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Short sta... |
ORPHA:264580 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Growth del... |
ORPHA:2088 |
Maple Syrup Urine Disease |
|
Elevated circulating branched chain amino acid concentration, Hypoglycemia, Elevated circulating ... |
OMIM:248600 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia |
OMIM:607398 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration, Ketotic ... |
ORPHA:79240 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Small for gestational age, Growth delay, Recurrent hypoglycemia, Delayed puberty, ... |
OMIM:616817 |
Donohue Syndrome |
|
Postnatal growth retardation, Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, P... |
OMIM:246200 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Death in infancy, Elevated circulating creatine kinase concentration, Hy... |
OMIM:201475 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypoglycemia, Transient hyperlipidemia |
ORPHA:156 |
Glutaric Acidemia Type 3 |
|
Elevated circulating glutaric acid concentration, Failure to thrive, Abnormality of circulating e... |
ORPHA:35706 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ... |
ORPHA:348 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Short stature, Fasting hypoglycemia |
ORPHA:436174 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Postnatal growth retardation, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalac... |
OMIM:227810 |
Glucocorticoid Deficiency 1 |
|
Recurrent hypoglycemia, Failure to thrive |
OMIM:202200 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrea... |
ORPHA:99901 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Hypoglycemia, Hyperammonemia, Hyperleucinemia, Failure to thrive |
OMIM:210210 |
Cog8-Cdg |
|
Failure to thrive, Hypoglycemia |
ORPHA:95428 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Death in infancy, Hypoglycemia, Elevated circulating creatine kinase con... |
OMIM:608836 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Death in infancy, Hypoglycemia, Death in childhood |
OMIM:611126 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Small for gestational age, Intrauterine growth retardation, Postnatal growth retardation, Hypogly... |
ORPHA:397590 |
Post-Traumatic Pituitary Deficiency |
|
Growth delay, Hypoglycemia, Delayed puberty |
ORPHA:95619 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Death in infancy, Hypoglycemia, Intrauterine growth retardation |
OMIM:620275 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... |
OMIM:615751 |
Bachmann-Bupp Syndrome |
|
Hypoglycemia, Hyperbilirubinemia, Large for gestational age |
OMIM:619075 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia |
OMIM:201910 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228305 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Neonatal hypoglycemia, Short stature, Hypoglycemic seizures |
OMIM:262600 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... |
ORPHA:26793 |
D-Glyceric Aciduria |
|
Growth delay, Failure to thrive, Hypoglycemia, Nonketotic hyperglycinemia |
OMIM:220120 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Growth delay, Hypoalbuminemia... |
OMIM:251880 |
Glutaric Acidemia I |
|
Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia |
OMIM:231670 |
Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:616355 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Fasting hypoglycemia, Decreased... |
ORPHA:159 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Neonatal death, Elevated circulating glutaric acid concentration, Hypoglycemia, Glycosuria |
OMIM:231680 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Growth delay, Hypoglycemic seizures, Hypoketotic hypoglycemia |
OMIM:231530 |
Reni Syndrome |
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Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia |
OMIM:617575 |
Congenital Disorder Of Glycosylation, Type Im |
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Death in infancy, Failure to thrive, Hypoketotic hypoglycemia, Increased circulating free fatty a... |
OMIM:610768 |
Congenital Disorder Of Glycosylation, Type Iie |
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Death in infancy, Hypoglycemia, Elevated circulating creatine kinase concentration, Short stature... |
OMIM:608779 |
Pyruvate Carboxylase Deficiency |
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Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H... |
ORPHA:3008 |
Glycogen Storage Disease Ia |
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Short stature, Hypoglycemia, Hyperlipidemia, Growth delay, Hyperuricemia, Fasting hypoglycemia, D... |
OMIM:232200 |
Smith-Kingsmore Syndrome |
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Rhizomelia, Hypoglycemia, Large for gestational age |
OMIM:616638 |
Classic Galactosemia |
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Hypoglycemia, Delayed puberty |
ORPHA:79239 |
Hsd10 Disease, Infantile Type |
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Hypoglycemia, Hyperammonemia |
ORPHA:391428 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
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Intrauterine growth retardation, Hypoglycemia |
OMIM:617710 |
Aica-Ribosuria Due To Atic Deficiency |
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Hyponatremia, Hypoglycemia |
OMIM:608688 |
Pancreatic And Cerebellar Agenesis |
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Death in infancy, Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Hyperg... |
OMIM:609069 |
Silver-Russell Syndrome 1 |
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Intrauterine growth retardation, Small for gestational age, Fasting hypoglycemia |
OMIM:180860 |
Beta-Ketothiolase Deficiency |
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Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia |
ORPHA:134 |
Congenital Disorder Of Glycosylation, Type Ig |
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Small for gestational age, Rhizomelia, Hypoglycemia, Hypocalcemia, Failure to thrive |
OMIM:607143 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Hyperalaninemia, Failure to thrive, Hypoalbuminemia, Hypoglycemia |
OMIM:618329 |
Timothy Syndrome |
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Hypoglycemia, Hypocalcemia |
OMIM:601005 |
Late-Onset Isolated Acth Deficiency |
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Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Weight loss, Hyperuricemia, Type I diabe... |
ORPHA:199299 |
Silver-Russell Syndrome |
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Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Insulin resi... |
ORPHA:813 |
Cholera |
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Hyponatremia, Miscarriage, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
Mirage Syndrome |
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Hyponatremia, Short stature, Hypoglycemia, Hyperkalemia, Decreased body weight, Intrauterine grow... |
OMIM:617053 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:26791 |
Rabson-Mendenhall Syndrome |
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Impaired glucose tolerance, Short stature, Insulin resistance, Fasting hyperinsulinemia, Insulin-... |
ORPHA:769 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
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Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:480864 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
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Slender build, Neonatal hypoglycemia |
OMIM:617600 |
Acute Adrenal Insufficiency |
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Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating renin... |
ORPHA:95409 |
Dopamine Beta-Hydroxylase Deficiency |
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Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... |
ORPHA:230 |
Acth Deficiency, Isolated |
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Fasting hypoglycemia |
OMIM:201400 |
Glucocorticoid Resistance, Generalized |
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Hypoglycemia |
OMIM:615962 |
Congenital Disorder Of Glycosylation, Type It |
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Hypoglycemia, Elevated circulating creatine kinase concentration, Short stature, Growth delay, De... |
OMIM:614921 |
Isolated Complex I Deficiency |
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Increased serum pyruvate, Diabetes mellitus, Hypoglycemia, Intrauterine growth retardation, Failu... |
ORPHA:2609 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
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Hypoglycemia |
OMIM:201450 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Intrauterine growth retardation, Failure to thrive, Hypoglycemia, Short stature |
OMIM:618005 |
Familial Glucocorticoid Deficiency |
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Hyponatremia, Ketotic hypoglycemia, Hyperkalemia, Hypoglycemic seizures, Weight loss, Failure to ... |
ORPHA:361 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
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Elevated circulating acylcarnitine concentration, Hypoglycemia, Elevated circulating creatine kin... |
OMIM:616878 |
Shashi-Pena Syndrome |
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Intrauterine growth retardation, Hypoglycemia |
OMIM:617190 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Hyponatremia, Failure to thrive, Hyperkalemia, Hypoglycemia |
ORPHA:90790 |
Primary Fanconi Renotubular Syndrome |
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Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Growth delay, Glycosuria, Hypokalem... |
ORPHA:3337 |
Glycerol Kinase Deficiency |
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Hypertriglyceridemia, Short stature, Hypoglycemia, Hyperglycerolemia, Small for gestational age, ... |
OMIM:307030 |
Orthostatic Hypotension 1 |
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Hypomagnesemia, Neonatal hypoglycemia, Increased blood urea nitrogen |
OMIM:223360 |
Addison Disease |
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Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating renin... |
ORPHA:85138 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Hyponatremia, Hyperkalemia, Increased circulating renin level, Failure to thrive, Neonatal hypogl... |
ORPHA:90791 |
Basilicata-Akhtar Syndrome |
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Neonatal hypoglycemia |
OMIM:301032 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Tyrosinemia, Type I |
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Hypertyrosinemia, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Growth dela... |
OMIM:276700 |
Leprechaunism |
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Decreased body weight, Postnatal growth retardation, Insulin resistance, Hyperinsulinemia, Hypoka... |
ORPHA:508 |
Glycogen Storage Disease Ib |
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Hypoglycemia, Short stature, Hyperlipidemia, Hyperuricemia, Delayed puberty |
OMIM:232220 |
Immunodeficiency, Common Variable, 10 |
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Hypoglycemia |
OMIM:615577 |
Fructose-1,6-Bisphosphatase Deficiency |
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Hypoglycemia |
OMIM:229700 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
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Neonatal hypoglycemia, Large for gestational age |
ORPHA:457485 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Growth delay, Failure to thrive... |
OMIM:619418 |
Dilated Cardiomyopathy With Ataxia |
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Growth delay, Elevated circulating glutaric acid concentration, Neonatal hypoglycemia, Intrauteri... |
ORPHA:66634 |
Tenorio Syndrome |
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Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Hyperammonemia, Elevated circulating pal... |
ORPHA:79282 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
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Obesity, Neonatal hypoglycemia |
OMIM:608624 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Hypertyrosinemia, Hypoglycemia, Recurrent hypoglycemia, Neonatal death, Hyperglycemia, Failure to... |
OMIM:124000 |
Leigh Syndrome |
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Hypoglycemia, Growth delay, Hyperalaninemia, Failure to thrive, Intrauterine growth retardation |
ORPHA:506 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
Kabuki Syndrome 2 |
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Short stature, Postnatal growth retardation, Decreased body weight, Intrauterine growth retardati... |
OMIM:300867 |
Hereditary Fructose Intolerance |
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Reactive hypoglycemia, Hypermagnesemia, Growth delay, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
X-Linked Dominant Chondrodysplasia Punctata |
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Severe postnatal growth retardation, Short stature, Neonatal hypoglycemia |
ORPHA:35173 |
Mitochondrial Trifunctional Protein Deficiency |
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Failure to thrive in infancy, Hypocalcemia, Hypoketotic hypoglycemia |
ORPHA:746 |
Fructose Intolerance, Hereditary |
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Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, Glycosuria, Fa... |
OMIM:229600 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Nonketotic hypoglycemia, Hyperammonemia, Weight loss, Recurrent hypoglycemia, Hyperuricemia |
ORPHA:20 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Short stature, Hypoglycemia, Small for gestational age, Growth delay, Hypoalbuminemia, Hypocalcem... |
OMIM:613658 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hypertriglyceridemia, Hypoglycemia, Short stature, Hyperlipidemia, Hypoglycemic seizures, Growth ... |
ORPHA:79259 |
Shigellosis |
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Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Failure to thrive in infancy |
ORPHA:810 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
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Growth delay, Hypoglycemia, Short stature |
OMIM:616007 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Small for gestational age, Postnatal growth retardation, Insulin resistance, Severe intrauterine ... |
ORPHA:96182 |
Combined Oxidative Phosphorylation Defect Type 39 |
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Intrauterine growth retardation, Neonatal hypoglycemia |
ORPHA:565624 |
Immunodeficiency 59 And Hypoglycemia |
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Hypoglycemia, Short stature |
OMIM:233600 |
Sotos Syndrome |
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Glucose intolerance, Increased body weight, Neonatal hypoglycemia |
OMIM:117550 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Hypoglycemia |
ORPHA:457279 |
3-Methylglutaconic Aciduria, Type Viib |
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Growth delay, Intrauterine growth retardation, Rhizomelia, Neonatal hypoglycemia |
OMIM:616271 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Hypoglycemia, Short stature, Growth delay, Recurrent hypoglycemia, Failure to thrive |
OMIM:256810 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
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Small for gestational age, Hypoglycemia |
OMIM:614501 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Death in infancy, Hypoglycemia, Growth delay, Hyperalaninemia, Failure to thrive |
OMIM:252010 |
Alg12-Cdg |
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Hyponatremia, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholesterolemia, Intrauterine growth r... |
ORPHA:79324 |
3-Methylglutaconic Aciduria Type 7 |
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Growth delay, Neonatal hypoglycemia |
ORPHA:445038 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Cachexia, Hypoglycemia, Short stature |
ORPHA:109 |
3-Methylglutaconic Aciduria, Type Viii |
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Death in infancy, Growth delay, Neonatal death, Failure to thrive, Neonatal hypoglycemia |
OMIM:617248 |
Sheehan Syndrome |
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Hyponatremia, Hypoglycemia, Obesity |
ORPHA:91355 |
Pituitary Apoplexy |
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Hyponatremia, Hypoglycemia |
ORPHA:95613 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Methylmalonic acidemia, Failure to thrive, Growth delay, Hypoglycemia |
ORPHA:17 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
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Hypoglycemia |
OMIM:620224 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:168558 |
Deeah Syndrome |
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Death in infancy, Short stature, Death in adolescence, Death in childhood, Decreased body weight,... |
OMIM:619004 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:289548 |
Glycogen Storage Disease Ic |
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Hyperlipidemia, Hypoglycemia, Hyperuricemia, Delayed puberty |
OMIM:232240 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Pituitary dwarfism, Hypoglycemia, Overweight, Growth delay, Abnormal circulating thyroglobulin level |
ORPHA:226307 |
Holoprosencephaly |
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Hyponatremia, Diabetes mellitus, Hypoglycemia, Failure to thrive in infancy |
ORPHA:2162 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
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Intrauterine growth retardation, Neonatal hypoglycemia |
ORPHA:572798 |
Cerebral Visual Impairment |
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Neonatal hypoglycemia |
ORPHA:447788 |
Oculodentodigital Dysplasia |
|
Hypoglycemia |
ORPHA:2710 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Hyponatremia, Recurrent hypoglycemia, Failure to thrive, Hyperkalemia |
ORPHA:293978 |
Multiple Endocrine Neoplasia, Type I |
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Hypoglycemia, Hypercalcemia |
OMIM:131100 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Hypoglycemia, Obesity |
OMIM:301066 |
Perlman Syndrome |
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Hypoglycemia, Large for gestational age |
OMIM:267000 |
Primary Hyperoxaluria Type 1 |
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Calcinosis, Hyperoxaluria, Failure to thrive, Abnormality of circulating enzyme level |
ORPHA:93598 |
Marburg Hemorrhagic Fever |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... |
ORPHA:99826 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Death in infancy, Hypoglycemia, Small for gestational age, Hyperammonemia, Hyperglycemia, Failure... |
OMIM:220111 |
Histiocytoid Cardiomyopathy |
|
Failure to thrive, Hypoglycemia |
ORPHA:137675 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia, Hypoglycemia |
ORPHA:786 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Fasting hypoglycemia |
ORPHA:25 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Miscarriage, Short stature, Hyperkalemia, Weight loss, Hypochloremia, Failure to th... |
ORPHA:90794 |
Menkes Disease |
|
Intrauterine growth retardation, Hypoglycemia |
ORPHA:565 |
Non-Acquired Panhypopituitarism |
|
Pituitary dwarfism, Hypoglycemia, Short stature, Growth delay, Delayed puberty |
ORPHA:90695 |
Beckwith-Wiedemann Syndrome |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Large for gestational age, Ob... |
ORPHA:116 |
Neurooculorenal Syndrome |
|
Conjugated hyperbilirubinemia, Recurrent hypoglycemia, Postnatal growth retardation |
OMIM:620305 |
Simpson-Golabi-Behmel Syndrome |
|
Death in infancy, Hypoglycemia |
ORPHA:373 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia |
ORPHA:1848 |
Costello Syndrome |
|
Failure to thrive, Hypoglycemia, Short stature |
OMIM:218040 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Slender build, Neonatal hypoglycemia, Large for gestational age |
ORPHA:457359 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Small for gestational age, Hypoglycemia, Hyperkalemia, Decreased circulating renin ... |
OMIM:201750 |
Acute Liver Failure |
|
Hypoglycemia, Hyperammonemia |
ORPHA:90062 |
Holoprosencephaly 1 |
|
Hypoglycemia, Short stature |
OMIM:236100 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia |
OMIM:261740 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Growth delay, Pituitary dwarfism, Hypoglycemia, Delayed puberty |
ORPHA:95494 |
Beckwith-Wiedemann Syndrome |
|
Neonatal hypoglycemia |
OMIM:130650 |
Sotos Syndrome |
|
Hypercalcemia, Neonatal hypoglycemia |
ORPHA:821 |