Gene: Zbtb20 MGI:1929213

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

zinc finger and BTB domain containing 20

Synonyms:

D16Wsu73e, Zfp288, 1300017A20Rik, A930017C21Rik, HOF, 7330412A13Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Zbtb20 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Zbtb20 (2 diseases)
Human diseases predicted to be associated with Zbtb20 (834 diseases)

The table below shows human diseases associated to Zbtb20 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Primrose Syndrome		Self-injurious behavior, Seizure, Neurodegeneration, Aggressive behavior, Attention deficit hyper...	OMIM:259050
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome		Hypogonadism, Short stature, Hydrocephalus	ORPHA:3042

The table below shows human diseases predicted to be associated to Zbtb20 by phenotypic similarity.

Disease	Matching phenotypes	Source
Acid-Labile Subunit Deficiency	Insulin insensitivity, Mild postnatal growth retardation, Reduced insulin like growth factor bind...	OMIM:615961
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro...	ORPHA:314811
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated...	ORPHA:171706
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty, Short stature, Growt...	ORPHA:314802
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan...	OMIM:232700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ...	ORPHA:293964
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ...	ORPHA:263458
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Fa...	OMIM:617872
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ...	ORPHA:79299
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu...	OMIM:240900
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Hyperinsulinemic Hypoglycemia, Familial, 8	Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyper...	OMIM:620211
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Severe postnatal growth retardation, Hyp...	OMIM:262700
Isolated Growth Hormone Deficiency, Type Ia	Severe short stature, Hypoglycemia, Decreased serum insulin-like growth factor 1, Reduced circula...	OMIM:262400
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Short stature, Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Failure to thrive, Hyperglycemia, Intrauterine growth retar...	ORPHA:99886
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat...	OMIM:619868
Mody	Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-...	ORPHA:552
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insu...	ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Cerebral cortical atrophy, Seizure, Febrile seizure (within the age range of 3 months to 6 years)...	OMIM:301008
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Severe short stature, Intrauterine growth retardation, Hypoglycemia	OMIM:223500
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen...	OMIM:615160
Neonatal Hemochromatosis	Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat...	ORPHA:446
Edinburgh Malformation Syndrome	Hydrocephalus, Neonatal hyperbilirubinemia, Jaundice, Failure to thrive	OMIM:129850
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur...	OMIM:619970
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ...	OMIM:614736
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:369
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk...	ORPHA:411593
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Hyperbilirub...	OMIM:613986
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr...	ORPHA:6
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration, Seizure	OMIM:613068
Intellectual Developmental Disorder, Autosomal Recessive 37	Bruxism, Aggressive behavior, Seizure, Hyperactivity	OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Bruxism, Aggressive behavior, Seizure, Hyperactivity	ORPHA:356996
Hemochromatosis, Neonatal	Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Hypoglycemia, Increa...	OMIM:231100
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi...	ORPHA:35878
Isolated Focal Cortical Dysplasia	Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ...	ORPHA:65683
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu...	OMIM:620357
Developmental And Epileptic Encephalopathy 43	Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hyperactivity, Bil...	OMIM:617113
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul...	ORPHA:276580
Landau-Kleffner Syndrome	Memory impairment, Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Gener...	ORPHA:98818
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior, Bilateral t...	ORPHA:208441
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia	ORPHA:67046
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, I...	OMIM:619048
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Cerebral atrophy, Seizure, Generalized-onset seizure, Irritability, Hyperactivity	OMIM:616657
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip...	OMIM:232400
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul...	ORPHA:276575
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Short stature, Hypoglycemia, Hyperlipidemia, Hyperuricemia	ORPHA:364
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa...	OMIM:620085
Glycogen Storage Disease Ixb	Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Shor...	OMIM:261750
Lennox-Gastaut Syndrome	Mental deterioration, Myoclonus, Focal-onset seizure, Irritability, Aggressive behavior, Generali...	ORPHA:2382
Ceroid Lipofuscinosis, Neuronal, 7	Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Generalized myoclo...	OMIM:610951
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con...	OMIM:619874
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi...	OMIM:306000
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca...	ORPHA:276556
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, P...	ORPHA:73272
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Memory impairment, Frontotemporal cerebral atrophy, Inappropriate behavior, Short attention span,...	ORPHA:412066
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:609016
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu...	OMIM:610600
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Failure to thrive, Hypoglycemia	OMIM:606528
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Hypoglycemia, Dec...	OMIM:617093
2P21 Microdeletion Syndrome	Failure to thrive, Hypoglycemia, Hypogonadism, Hypocalcemia, Growth delay	ORPHA:163693
Female Restricted Epilepsy With Intellectual Disability	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:101039
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adrenal insufficienc...	OMIM:619386
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Frontal lobe dementia, Inappropriate laughter, Disinhibition, Irri...	OMIM:600274
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona...	ORPHA:79234
Immune Thrombocytopenia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep...	ORPHA:3002
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Cholestasis, Adrenal insufficiency, Hyperb...	OMIM:609734
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g...	OMIM:619290
Late-Onset Familial Hypoaldosteronism	Failure to thrive, Postnatal growth retardation, Hyponatremia, Decreased circulating aldosterone ...	ORPHA:556037
Crigler-Najjar Syndrome Type 2	Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Galactokinase Deficiency	Small for gestational age, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,...	ORPHA:79237
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati...	OMIM:613027
Citrullinemia, Type Ii, Neonatal-Onset	Hyperbilirubinemia, Hyperthreoninemia, Increased serum bile acid concentration, Cirrhosis, Elevat...	OMIM:605814
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Seizure, Hyperactivity, Dysphagia, Status epilepticus, Impulsivity	OMIM:620448
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase...	OMIM:617049
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia, Decreased response to growth hormone stimulation test, Hypogonadism,...	ORPHA:3363
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Blue Diaper Syndrome	Increased proinsulin:insulin ratio, Hyperphosphatemia, Elevated circulating thyroid-stimulating h...	ORPHA:94086
Hypoadrenocorticism, Familial	Hypoglycemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia, Hyperkalemia	OMIM:240200
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentration	OMIM:606785
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity, Seizure	OMIM:300271
Schizophrenia 15	Hyperactivity	OMIM:613950
Rotor Syndrome	Jaundice, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Intermittent jaundice	ORPHA:3111
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Postnatal growth retardation, Hyponatremia, Decreased circulating aldosterone ...	ORPHA:556030
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Intrauterine growth retardat...	ORPHA:26792
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Postnatal growt...	ORPHA:453533
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
Encephalopathy, Progressive, With Or Without Lipodystrophy	Mental deterioration, Seizure, Cerebral atrophy, Myoclonus, Hyperactivity, Neuronal loss in centr...	OMIM:615924
Wolcott-Rallison Syndrome	Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic trans...	ORPHA:1667
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia	OMIM:261650
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Postnatal growth retardation, Decreased body weight, Short stature, Neonatal hypogl...	ORPHA:231140
Pyruvate Dehydrogenase E3 Deficiency	Elevated circulating branched chain amino acid concentration, Hepatic failure, Decreased circulat...	ORPHA:2394
Combined Oxidative Phosphorylation Deficiency 36	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:617950
Combined Malonic And Methylmalonic Acidemia	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Dicarbo...	ORPHA:289504
Hypercholanemia, Familial, 2	Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Increased serum bile acid concentra...	OMIM:619256
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi...	OMIM:606762
Hartnup Disorder	Seizure, Emotional lability, Generalized tonic seizure, Attention deficit hyperactivity disorder,...	OMIM:234500
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Propionic Acidemia	Hepatomegaly, Hyperammonemia, Hypoglycemia	ORPHA:35
Dubin-Johnson Syndrome	Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality	OMIM:237500
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Failure to thrive, Hypomagnesemia, Hyperuricemia, Hyponatremia, Increased blood urea nitrogen, Di...	OMIM:613845
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri...	OMIM:610947
Fanconi-Bickel Syndrome	Hypouricemia, Postprandial hyperglycemia, Intrahepatic cholestasis, Glycosuria, Failure to thrive...	OMIM:227810
Rasmussen Subacute Encephalitis	Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Cognitive impairment, ...	ORPHA:1929
Glycine Encephalopathy 1	Death in infancy, Agenesis of corpus callosum, Aggressive behavior, Hyperactivity, Restlessness, ...	OMIM:605899
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h...	OMIM:600955
Inherited Creutzfeldt-Jakob Disease	Global brain atrophy, Central nervous system degeneration, Depression, Amyloidosis of peripheral ...	ORPHA:282166
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ...	ORPHA:2089
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentration	OMIM:218800
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Hyperammonemia, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:618120
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Solitary Fibrous Tumor	Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of the liver, Weight los...	ORPHA:2126
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Hypoglycemia	OMIM:610090
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Seizure, Infantile spasms, Aggressive behavior, Hyperactivity	OMIM:619031
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia...	OMIM:262190
Pyridoxal Phosphate-Responsive Seizures	Failure to thrive, Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulatin...	ORPHA:79096
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva...	ORPHA:71212
Hyperbilirubinemia, Rotor Type	Jaundice, Conjugated hyperbilirubinemia	OMIM:237450
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Jaundice, Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Intrauterine growth retardation, Hypoglycemia, Elevated cir...	OMIM:618838
Alzheimer Disease 9, Susceptibility To	Cerebral cortical atrophy, Memory impairment, Depression, Neurofibrillary tangles, Hippocampal at...	OMIM:608907
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car...	ORPHA:79159
Interstitial Nephritis, Karyomegalic	Glycosuria, Elevated circulating creatinine concentration, Elevated circulating hepatic transamin...	OMIM:614817
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertrigl...	OMIM:617885
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Increased serum pyruvate, Hypoglycemia	OMIM:614741
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Neoplasm of the pancreas, Increas...	ORPHA:438274
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Failure to thriv...	ORPHA:90791
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ...	OMIM:246900
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased circulating T4 concentration, Abnormality of thyroid physiology, Reduced radioactive io...	ORPHA:95715
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Hyperammonemia, Hyperalaninemia...	OMIM:614702
Mehmo Syndrome	Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, ...	OMIM:300148
Temple Syndrome	Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test...	ORPHA:254516
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Abnormal circulating aldosterone, Failure to thrive in infancy, Increased circula...	ORPHA:171876
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Intrauterine growth retardation, Small for gestational age, Hypoglycemia	ORPHA:231147
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Increased bod...	ORPHA:890
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F...	ORPHA:79303
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Postnatal growth retardation, Hyp...	OMIM:616113
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hyperammonemia, Hypoglycemia	ORPHA:664
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Growth de...	OMIM:203400
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Familial Glucocorticoid Deficiency	Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating...	ORPHA:361
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Hyperactivity, Seizure	OMIM:613402
Neurodegeneration With Brain Iron Accumulation 6	Mental deterioration, Depression, Neurodegeneration, Motor tics, Compulsive behaviors	OMIM:615643
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-a...	OMIM:177735
Intellectual Developmental Disorder, X-Linked 111	Phonic tics, Seizure, Hippocampal atrophy, Aggressive behavior, Corpus callosum atrophy, Hyperact...	OMIM:301107
Malaria	Elevated circulating C-reactive protein concentration, Hyperbilirubinemia	ORPHA:673
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Intrauterine growth retardat...	OMIM:615710
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Pancreatitis, Hyperammonemia, Hypoglycemia	OMIM:620137
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ...	OMIM:616026
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Increased total bilirub...	OMIM:210500
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Postnatal growth retardation, Hypoglycemia	OMIM:616111
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Intrauterine growth retardation, Reduced C-peptide level...	OMIM:606176
Laron Syndrome	Severe short stature, Hypoglycemia, Delayed puberty, Hypercholesterolemia, Truncal obesity, Abnor...	ORPHA:633
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Seizure	ORPHA:436151
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c...	OMIM:214900
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen, Elevated circulating dihydroxyphenylacetic acid co...	OMIM:223360
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Pyruvate Carboxylase Deficiency	Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia	OMIM:266150
Stxbp1-Related Encephalopathy	Generalized myoclonic seizure, Focal impaired awareness seizure, Seizure, Epileptic spasm, Infant...	ORPHA:599373
Amyloidosis, Cutaneous Bullous	Amyloidosis	OMIM:204900
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Hyperammonemia...	OMIM:600649
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly	OMIM:237800
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Recurrent hypoglycemia, Elevate...	OMIM:212140
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa...	ORPHA:247598
Amyloidosis, Primary Localized Cutaneous, 2	Cutaneous amyloidosis	OMIM:613955
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ...	ORPHA:42
Diaminopentanuria	Neurodegeneration, Seizure	OMIM:222350
Hsd10 Mitochondrial Disease	Hypoglycemia, Elevated circulating tiglylglycine concentration	OMIM:300438
Gilbert Syndrome	Unconjugated hyperbilirubinemia, Hepatic failure, Elevated circulating hepatic transaminase conce...	OMIM:143500
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Splenomegaly, Intermittent jaundice	OMIM:179700
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Increased C-p...	OMIM:615238
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Failure to thrive, Hyperalaninemia, Hyperammonemia, Hypoglycemia	OMIM:614739
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypophosph...	ORPHA:263455
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, I...	OMIM:245400
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low plasma citr...	OMIM:261680
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hepatic failure, Growth delay, Glycosuria, Failure to thrive, Elevate...	ORPHA:2088
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl...	ORPHA:71529
Acute Adrenal Insufficiency	Failure to thrive, Androgen insufficiency, Hypoglycemia, Increased circulating ACTH level, Primar...	ORPHA:95409
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin	ORPHA:2924
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH ...	ORPHA:90790
Non-Acquired Isolated Growth Hormone Deficiency	Prolonged neonatal jaundice, Delayed puberty, Abdominal obesity, Short stature, Neonatal hypoglyc...	ORPHA:631
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Seizure, Neurodegeneration, Cerebral atro...	ORPHA:309246
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Hypoglycemia, Intrauterine growth retardation, Elevated circulating cre...	OMIM:618835
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Hypoglycemia, Intrauterine growth retardation, Elevated circulating cre...	OMIM:618839
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Decreased circulating T4 concentration, Neonatal hyperbilirubinemia,...	ORPHA:95717
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Endocardial Fibroelastosis	Anterior hypopituitarism, Hypoglycemia	ORPHA:2022
Hypertriglyceridemia 1	Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Congenital Isolated Acth Deficiency	Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Hyponatremia, Decreased circulati...	ORPHA:199296
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Mental deterioration, Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Cerebral atrophy, N...	OMIM:617672
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-a...	OMIM:264350
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Memory impairment, Inappropriate behavior, Seizure, Generalized-onset se...	OMIM:619827
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ...	OMIM:618858
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Hepatiti...	OMIM:613812
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:300559
3-Methylglutaconic Aciduria Type 4	Decreased liver function, Failure to thrive, Hypoglycemia	ORPHA:67048
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Short Stature, Dauber-Argente Type	Short stature, Postnatal growth retardation, Increased insulin like growth factor binding protein...	OMIM:619489
Neurodegeneration With Brain Iron Accumulation 5	Mental deterioration, Cerebellar atrophy, Seizure, Cerebral atrophy, Neurodegeneration, Aggressiv...	OMIM:300894
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Bachmann-Bupp Syndrome	Large for gestational age, Hyperbilirubinemia, Hypoglycemia	OMIM:619075
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Infantile Liver Failure Syndrome 2	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp...	OMIM:616483
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic ste...	ORPHA:79085
Addison Disease	Thymoma, Type I diabetes mellitus, Failure to thrive, Androgen insufficiency, Hypoglycemia, Adren...	ORPHA:85138
Glucocorticoid Deficiency 1	Failure to thrive, Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulatin...	OMIM:202200
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinemia, Elevated c...	ORPHA:95716
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Reduced C-pe...	OMIM:616329
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620125
Mirage Syndrome	Hypoglycemia, Adrenal insufficiency, Intrauterine growth retardation, Decreased body weight, Hypo...	OMIM:617053
Infantile Sialic Acid Storage Disease	Failure to thrive, Splenomegaly, Hydrocephalus, Hepatomegaly, Conjugated hyperbilirubinemia	OMIM:269920
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ...	OMIM:606069
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:264580
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Splenomegaly, Hyperprolinemia, Increased serum pyruvate, Hyperalaninemia, Neon...	OMIM:619046
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Acute h...	OMIM:615453
Variant Abeta2M Amyloidosis	Renal amyloidosis, Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, ...	ORPHA:314652
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Hepatic failure, Elevated circulating ...	OMIM:619355
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Purpura, Vitreous hemorrhage, Pulmonary embolism	OMIM:612304
Hyperprolinemia, Type I	Seizure, Aggressive behavior, Hyperactivity, Motor stereotypy, Status epilepticus	OMIM:239500
Juvenile Huntington Disease	Depression, Cerebellar atrophy, Seizure, Cerebellar vermis atrophy, Myoclonus, Irritability, Hype...	ORPHA:248111
Combined Oxidative Phosphorylation Deficiency 47	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Intraut...	OMIM:618958
Intellectual Developmental Disorder, Autosomal Dominant 67	Seizure, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive behaviors	OMIM:619927
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi...	ORPHA:348
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Short stature, Postnatal growth retardation, Small for gestational age, Hypoglycemia	ORPHA:231137
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Hepatomegaly, C...	OMIM:601847
Neurodegeneration With Brain Iron Accumulation 2B	Mental deterioration, Cerebellar atrophy, Neurofibrillary tangles, Seizure, Cerebral atrophy, Neu...	OMIM:610217
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Transient...	ORPHA:156
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic liver disease, Increased total bilirubin	OMIM:174050
Myeloma, Multiple	Amyloidosis	OMIM:254500
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Increased total bilirubin,...	OMIM:608836
Leukoencephalopathy, Progressive, With Ovarian Failure	Dementia, Neurodegeneration, Depression, Cerebellar atrophy	OMIM:615889
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, F...	ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, F...	ORPHA:168558
Alzheimer Disease 4	Memory impairment, Neurofibrillary tangles, Cognitive impairment, Dementia, Senile plaques, Cereb...	OMIM:606889
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Intellectual Developmental Disorder, Autosomal Recessive 38	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Recurrent hand flapping, ...	OMIM:615516
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Growth delay, Failure to thrive, Hypoglycemia, Hyperglycemia, Hypera...	ORPHA:3008
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic ste...	ORPHA:435660
Lipoyltransferase 1 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:616299
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Post-Traumatic Pituitary Deficiency	Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease...	ORPHA:95619
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Hypotonia-Cystinuria Syndrome	Failure to thrive, Decreased response to growth hormone stimulation test, Postnatal growth retard...	OMIM:606407
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hyperbi...	OMIM:614886
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Maturity-onset diabetes of the young, Postnatal growth retardation, Obesity, ...	ORPHA:254531
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Seizure, Aggressive behavior, Hydrocephalus, Hyperactivity, Motor stereotypy	OMIM:619470
Glucocorticoid Deficiency 3	Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c...	OMIM:609197
Adrenocortical Carcinoma	Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre...	ORPHA:1501
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia, Failure to thrive	OMIM:143860
Hijazi-Reis Syndrome	Postnatal growth retardation, Hyperbilirubinemia	OMIM:301094
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	OMIM:609015
Late Infantile Neuronal Ceroid Lipofuscinosis	Mental deterioration, Obsessive-compulsive trait, Motor deterioration, Motor stereotypy, Cerebral...	ORPHA:168491
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Failure to thrive, Splenomegaly, Hepatomegaly, Cirrhosis, Intrahepatic cholestasi...	OMIM:211600
Glutaric Acidemia I	Elevated circulating glutaric acid concentration, Lateral ventricle dilatation, Failure to thrive...	OMIM:231670
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Succinic Semialdehyde Dehydrogenase Deficiency	Self-injurious behavior, Cerebellar atrophy, Generalized non-motor (absence) seizure, Seizure, Ag...	OMIM:271980
Zollinger-Ellison Syndrome	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:913
Mitochondrial Complex I Deficiency, Nuclear Type 33	Intrauterine growth retardation, Small for gestational age, Hyperammonemia, Hypoglycemia	OMIM:618253
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase, Postprandial hyper...	ORPHA:681
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia...	ORPHA:79240
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Pituitary adenoma, Graves disease, Hypoglycemia, Adrenocorticotropin de...	ORPHA:199299
Phenylketonuria	Depression, Seizure, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hypera...	OMIM:261600
Propionic Acidemia	Failure to thrive, Hypoglycemia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Pancreatitis, Sho...	OMIM:606054
Guanidinoacetate Methyltransferase Deficiency	Self-injurious behavior, Focal impaired awareness seizure, Seizure, Aggressive behavior, Hyperact...	ORPHA:382
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Hyperam...	OMIM:212138
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula...	ORPHA:64743
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Acute hepatic steatosis, Failure to thrive, Hypoglycemia	OMIM:210200
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating f...	ORPHA:158057
Retinal Capillary Malformation	Vitreous hemorrhage, Hyphema	ORPHA:71213
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia, Postnatal growt...	OMIM:620366
Long-Olsen-Distelmaier Syndrome	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:620609
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Hypogonadotropic hypogonadism, Intrauterine growth retardation, Hypoglycemia	ORPHA:48431
Cholestasis, Benign Recurrent Intrahepatic, 1	Intermittent jaundice, Increased serum bile acid concentration, Pancreatitis, Intrahepatic choles...	OMIM:243300
Aminoacylase 1 Deficiency	Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Cerebral atrophy, Hyperactivity, Bilatera...	OMIM:609924
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c...	OMIM:615962
Intellectual Developmental Disorder, X-Linked 30	Generalized non-motor (absence) seizure, Seizure, Short attention span, Aggressive behavior, Hype...	OMIM:300558
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ...	ORPHA:30391
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating hepatic transaminase concentration, Abnormal pineal melatonin secretion, Hyp...	ORPHA:69665
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	ORPHA:766
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Hypoglycemia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Hepatomegaly, Met...	OMIM:251000
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal temper tantrums, Mental deterioration, Seizure, Cerebellar vermis atrophy, Focal-onset s...	ORPHA:163681
Fg Syndrome 3	Fine hair, Frontal upsweep of hair, Death in infancy, Agenesis of corpus callosum, Hyperactivity,...	OMIM:300406
Glycogen Storage Disease Ia	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi...	OMIM:232200
Mitochondrial Trifunctional Protein Deficiency 2	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Elev...	OMIM:620300
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Renal Hypoplasia, Bilateral	Glycosuria, Failure to thrive, Hyponatremia, Short stature, Hyperkalemia, Growth delay, Small for...	ORPHA:97362
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Hyperglyc...	OMIM:251110
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis...	ORPHA:435651
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa...	OMIM:201475
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Growth...	ORPHA:90674
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total...	OMIM:267700
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Attention deficit hyperactivity disorder, Hyperactivity, Seizure	OMIM:617182
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	OMIM:613070
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Hypothyroidism, Delayed puberty, Ad...	ORPHA:95496
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Neurodegeneration With Brain Iron Accumulation 4	Mental deterioration, Depression, Cerebellar atrophy, Neurodegeneration, Lewy bodies, Emotional l...	OMIM:614298
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hyp...	OMIM:614921
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Maple Syrup Urine Disease, Type Ia	Elevated circulating branched chain amino acid concentration, Pancreatitis, Elevated circulating ...	OMIM:248600
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Postprandial hyperglycemia, Graves disease, Hypomagnesemia, Obesity, Weight...	ORPHA:79102
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Failure to thr...	OMIM:229600
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr...	OMIM:201450
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly, Elevated circulating hepatic ...	ORPHA:75563
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Donohue Syndrome	Precocious puberty, Postprandial hyperglycemia, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyp...	OMIM:246200
Acys Amyloidosis	Amyloidosis, Cerebral amyloid angiopathy	ORPHA:100008
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Mental deterioration, Cerebellar atrophy, Seizure, Neurodegeneration, Atrophy/Degeneration affect...	OMIM:612319
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci...	OMIM:615751
Retinopathy Of Prematurity	Vitreous hemorrhage	ORPHA:90050
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Atte...	OMIM:620292
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Hypoglycemia, Intrauterine growth retardation, Decreased body weight, Proportionate short stature...	ORPHA:391408
Reni Syndrome	Hypoalbuminemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypertriglyce...	OMIM:617575
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Clcn4-Related X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Cerebral cortical atrophy, Depression, Generalized non-motor (absence) s...	ORPHA:485350
Familial Hypoaldosteronism	Failure to thrive, Adrenal insufficiency, Hyponatremia, Decreased circulating aldosterone level, ...	ORPHA:427
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,...	OMIM:201910
Pitt-Hopkins-Like Syndrome 1	Focal impaired awareness seizure, Status epilepticus, Generalized-onset seizure, Aggressive behav...	OMIM:610042
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Self-injurious behavior, Seizure, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal bursts of ...	OMIM:618718
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Elevated circu...	OMIM:619055
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Hepatome...	OMIM:618892
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Decreased circulating carnitine concentration, Failure to thrive, Hypoglycemia, Hyperammonemia, H...	OMIM:210210
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Decr...	ORPHA:90673
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Bilateral tonic-clonic seizure, Hyperactivity, Inflexible adherence to routines	OMIM:301076
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased circulating carnitin...	ORPHA:159
Pseudohypoaldosteronism Type 2	Short stature, Hyperkalemia, Growth delay	ORPHA:757
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Weight loss, Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating dehy...	ORPHA:90794
Acth Deficiency, Isolated	Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena...	OMIM:201400
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear-induced behavior, Seizure, Irritability, Aggressive behavior, Hyperactivity, Anorex...	ORPHA:3077
Developmental And Epileptic Encephalopathy 109	Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Tonic seizure, H...	OMIM:620145
Cystinosis	Type I diabetes mellitus, Failure to thrive, Portal hypertension, Hypokalemia, Hypothyroidism, Hy...	ORPHA:213
D-Glyceric Aciduria	Failure to thrive, Hypoglycemia, Elevated circulating D-glyceric concentration, Growth delay, Non...	OMIM:220120
Apparent Mineralocorticoid Excess	Failure to thrive, Decreased circulating renin level, Hypokalemia, Decreased circulating aldoster...	OMIM:218030
Rabson-Mendenhall Syndrome	Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me...	ORPHA:769
Drug-Induced Lupus Erythematosus	Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci...	ORPHA:231111
Paternal Uniparental Disomy Of Chromosome 1	Obesity, Delayed puberty, Increased blood urea nitrogen, Short stature, Hypercalcemia	ORPHA:251004
Aromatic L-Amino Acid Decarboxylase Deficiency	Short stature, Hypoglycemia, Failure to thrive, Increased circulating prolactin concentration	ORPHA:35708
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Tonic seizure, Hyperactivity, Bilateral tonic-clonic seizure, Generalized myo...	OMIM:618090
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ...	OMIM:610582
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly	ORPHA:5
Glycogen Storage Disease Xii	Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Reduced haptoglobin level, Elevated circulatin...	OMIM:611881
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:26793
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:208085
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Amyloidosis	OMIM:204850
Tenorio Syndrome	Hypoinsulinemia, Hydrocephalus, Hypoglycemia	OMIM:616260
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years)	OMIM:300454
Pearson Marrow-Pancreas Syndrome	Type I diabetes mellitus, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:557000
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo...	OMIM:618329
Dubin-Johnson Syndrome	Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice, Conjugated hyperbili...	ORPHA:234
Silver-Russell Syndrome 2	Short stature, Intrauterine growth retardation, Neonatal hypoglycemia	OMIM:618905
Birk-Landau-Perez Syndrome	Failure to thrive in infancy, Intrauterine growth retardation, Agenesis of corpus callosum, Incre...	OMIM:617595
Glycogen Storage Disease Vii	Cholelithiasis, Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase co...	OMIM:232800
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Short stature, Decreased circulatin...	OMIM:601198
Pseudohypoaldosteronism, Type Iia	Hyperkalemia, Pseudohypoaldosteronism	OMIM:145260
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr...	ORPHA:157
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Amyotrophic Lateral Sclerosis	Depression, Amyotrophic lateral sclerosis, Neurodegeneration, Emotional lability, Frontotemporal ...	ORPHA:803
Classic Galactosemia	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased...	ORPHA:79239
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Maturity-onset diabetes of the young, Postnatal growth retardation, Obesity, ...	ORPHA:96184
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Failure to thrive, Hypoglycemia, Polysplenia, Failur...	OMIM:619418
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Hepatomegaly, Hy...	OMIM:613673
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Timothy Syndrome	Hypothyroidism, Hypocalcemia, Hypoglycemia	OMIM:601005
Neurooculorenal Syndrome	Ectopic posterior pituitary, Central hypothyroidism, Recurrent hypoglycemia, Decreased circulatin...	OMIM:620305
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel...	OMIM:131100
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia, Hypoglycemia	OMIM:608688
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Intrauterine growth retardation, Cholecystitis, Reduced haptoglobin level, Spleno...	OMIM:266200
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Incr...	OMIM:603553
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Decreased thyroid-stimulating hormone level, Hypokalemia, Weight loss, Increased circulat...	OMIM:613239
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr...	ORPHA:400
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebral cortical atrophy, Depression, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, A...	OMIM:615157
Retinoschisis 1, X-Linked, Juvenile	Vitreous hemorrhage	OMIM:312700
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:26791
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:613280
Severe Neurodegenerative Syndrome With Lipodystrophy	Seizure, Progressive psychomotor deterioration, Cerebral atrophy, Myoclonus, Caudate atrophy, Hyp...	ORPHA:363400
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia	OMIM:605479
Krabbe Disease	Seizure, Neurodegeneration, Diffuse cerebral atrophy, Hydrocephalus, Motor deterioration	OMIM:245200
Glucocorticoid Deficiency 2	Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating reni...	OMIM:607398
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:98870
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Malonyl-Coa Decarboxylase Deficiency	Short stature, Hypoglycemia	OMIM:248360
Neurodegeneration With Brain Iron Accumulation 3	Neurodegeneration, Emotional lability, Disinhibition, Dysphagia, Dementia, Subcortical dementia	OMIM:606159
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr...	ORPHA:228308
Glycogen Storage Disease Ib	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi...	OMIM:232220
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbil...	OMIM:619685
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia, Postnatal growth retardation, Intrauterine growth retardation, Hypothyroidism, Smal...	ORPHA:397590
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Recurrent hypoglycemia, Intrauterine growth retardation, Hypothyroidism, Delayed puberty, Short s...	OMIM:616817
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo...	OMIM:613658
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Hydrocephalus, Hypoglycemia	OMIM:616355
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism, Decreased circulating renin level	OMIM:614492
Congenital Disorder Of Glycosylation, Type Iie	Failure to thrive, Hypoglycemia, Decreased liver function, Elevated circulating aspartate aminotr...	OMIM:608779
Hsd10 Disease, Infantile Type	Hyperammonemia, Hypoglycemia	ORPHA:391428
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Seizure, Inappropriate laughter, Short attention span, Polyphagia, Hyperactivity	ORPHA:411515
Isolated Complex I Deficiency	Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Hepatomegaly, Increased serum p...	ORPHA:2609
Beta-Ketothiolase Deficiency	Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Weight loss, Hepatomegaly	ORPHA:134
Autoimmune Hepatitis	Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub...	ORPHA:2137
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Ketotic hypoglycemia, Hyperalaninemia, Failure to thrive	OMIM:620646
Anemia, Congenital Dyserythropoietic, Type Ia	Hyperbilirubinemia, Mild postnatal growth retardation, Splenomegaly, Prolonged neonatal jaundice,...	OMIM:224120
Tyrosinemia, Type I	Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Fai...	OMIM:276700
Abeta Amyloidosis, Dutch Type	Dementia, Mental deterioration, Seizure, Cerebral amyloid angiopathy	ORPHA:100006
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:480864
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Growth delay, Elevated creatine kinase after exercise	ORPHA:57
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterine growth retardati...	ORPHA:294
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera...	ORPHA:508
Amyloidosis, Primary Localized Cutaneous, 1	Cutaneous amyloidosis	OMIM:105250
Cerebral Amyloid Angiopathy, Cst3-Related	Dementia, Generalized amyloid deposition	OMIM:105150
Cockayne Syndrome Type 1	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Failure to thrive, Po...	ORPHA:90321
Intellectual Developmental Disorder, Autosomal Dominant 45	Myoclonic seizure, Generalized non-motor (absence) seizure, Recurrent hand flapping, Myoclonus, A...	OMIM:617600
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia, Hepatic periportal ne...	OMIM:231680
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Anorexia, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch blo...	ORPHA:99827
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Porta...	ORPHA:53035
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:275761
Hyperkalemic Periodic Paralysis	Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration	ORPHA:682
Adrenoleukodystrophy	Mental deterioration, Seizure, Neurodegeneration, Attention deficit hyperactivity disorder, Dementia	OMIM:300100
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	OMIM:616878
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Short stature, Fasting hypoglycemia	ORPHA:436174
Wilson Disease	Hypouricemia, Hypoalbuminemia, Hepatic failure, Portal fibrosis, Glycosuria, Acute hepatic failur...	OMIM:277900
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Diarrhea 1, Secretory Chloride, Congenital	Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin s...	OMIM:214700
Intellectual Developmental Disorder, X-Linked 107	Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Seizure	OMIM:301013
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Fulminant hepatic failure, Hypogly...	OMIM:231530
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase...	ORPHA:14
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Fasting h...	OMIM:180860
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Jaundice	OMIM:235700
Lujo Hemorrhagic Fever	Hypotension, Shock, Excessive bleeding after a venipuncture, Ecchymosis, Dysphagia, Bradycardia, ...	ORPHA:319213
Hyperlysinemia, Type I	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Short attention span, Cog...	OMIM:238700
Vipoma	Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact...	ORPHA:97282
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myelomeningocele, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity ...	OMIM:620141
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Depression, Seizure, Short attention span, Aggressive behavior, Attention deficit hyperactivity d...	OMIM:620242
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Relapsing Fever	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Elevated circ...	ORPHA:91547
Cog8-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia	ORPHA:95428
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul...	ORPHA:186
Hereditary Fructose Intolerance	Hypermagnesemia, Reactive hypoglycemia, Hyperuricemia, Chronic hepatic failure, Hypophosphatemia,...	ORPHA:469
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Failure to thrive, Hypoglycemia, Hypocalcemia, Small for gestational age	OMIM:607143
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Capillary leak, Petechia...	ORPHA:340
Pituitary Apoplexy	Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr...	ORPHA:95613
Sheehan Syndrome	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:91355
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism	OMIM:614495
Genetic Recurrent Myoglobinuria	Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Hypocalcemia, Hyperka...	ORPHA:99845
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul...	ORPHA:90793
Megaloblastic Anemia, Folate-Responsive	Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration	OMIM:601775
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose intolerance, Hypokalemia, A...	OMIM:219090
Apparent Mineralocorticoid Excess	Failure to thrive, Intrauterine growth retardation, Abnormality of circulating cortisol level, De...	ORPHA:320
Seckel Syndrome 10	Insulin resistance, Severe short stature, Elevated circulating luteinizing hormone level, Acute p...	OMIM:617253
Hypothyroidism, Congenital, Nongoitrous, 2	Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased c...	OMIM:218700
Peroxisome Biogenesis Disorder 13A (Zellweger)	Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Reduced ...	OMIM:614887
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Decreased circulating carnitine concentration, Hypoglycemia, Elevated circulating aspartate amino...	OMIM:246450
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Silver-Russell Syndrome	Premature adrenarche, Insulin resistance, Precocious puberty, Recurrent hypoglycemia, Failure to ...	ORPHA:813
Dilated Cardiomyopathy With Ataxia	Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce...	ORPHA:66634
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Growth delay, Splenomegaly, Hepatomegaly, Short stature, Jaundice, Hyperkalemia, Conjugated hyper...	OMIM:608885
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebral cortical atrophy, Cerebellar atrophy, Aggressive behavior, Corpus callosum atrophy, Hype...	ORPHA:369939
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Impaired...	OMIM:301068
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Agenesis of...	ORPHA:226307
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage	ORPHA:88619
Kaposiform Lymphangiomatosis	Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Subconjunctival hemorrhage, Ep...	ORPHA:464329
Cerebral Visual Impairment	Central nervous system degeneration, Seizure, Neurodegeneration, Short attention span, Attention ...	ORPHA:447788
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatic failure, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Acute hepa...	OMIM:256810
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Splenomegaly	OMIM:182900
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism	OMIM:614496
Liver Disease, Severe Congenital	Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato...	OMIM:619991

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