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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:

Zfp288, D16Wsu73e, 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 (857 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Primrose Syndrome		Restlessness, Aggressive behavior, Self-injurious behavior, Seizure, Neurodegeneration, Tics, Att...	OMIM:259050
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome		Hydrocephalus, Hypogonadism, Short stature	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	Decreased serum insulin-like growth factor 1, Mild postnatal growth retardation, Delayed puberty,...	OMIM:615961
Short Stature Due To Ghsr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Short stature, Abnormality of body we...	ORPHA:314811
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati...	ORPHA:171706
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv...	OMIM:232700
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Short Stature Due To Partial Ghr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Short stature, Growth delay, Delayed ...	ORPHA:314802
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatic failure, Elevated circulating...	OMIM:617872
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hype...	OMIM:620211
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Isolated Growth Hormone Deficiency, Type Ia	Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, P...	OMIM:262400
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Pituitary Hormone Deficiency, Combined, 4	Pituitary dwarfism, Hypoglycemia, Short stature, Severe postnatal growth retardation, Adrenal ins...	OMIM:262700
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia, Short stature	ORPHA:366
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Maturity-onset ...	ORPHA:324575
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju...	OMIM:619868
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Neonatal Hemochromatosis	Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase...	ORPHA:446
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ...	ORPHA:293964
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Intrauterine growth retardation, Severe short stature, Hypoglycemia	OMIM:223500
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Small for gestational age,...	OMIM:615160
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w...	OMIM:301008
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive, Neonatal hyperbilirubinemia, Jaundice	OMIM:129850
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju...	OMIM:620010
Developmental And Epileptic Encephalopathy 104	Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se...	OMIM:619970
Intellectual Developmental Disorder, Autosomal Recessive 37	Seizure, Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi...	OMIM:614736
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Short stature, Hepatocellular carcinom...	ORPHA:369
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Mahvash Disease	Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel...	OMIM:619290
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo...	ORPHA:6
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Short sta...	OMIM:613986
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Seizure, Neurodegeneration	OMIM:613068
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Seizure, Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype...	ORPHA:35878
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic seizure, ...	OMIM:617113
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati...	OMIM:620357
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur...	ORPHA:276580
Isolated Focal Cortical Dysplasia	Psychomotor deterioration, Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic sei...	ORPHA:65683
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Short stature, Hyperlipidemia, Hyperinsulinemia, Obesity, Hypergly...	ORPHA:329249
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,...	OMIM:231100
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu...	ORPHA:276575
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea...	OMIM:619048
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia	ORPHA:67046
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Landau-Kleffner Syndrome	Short attention span, Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilat...	ORPHA:98818
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse...	ORPHA:208441
Hyperlysinemia, Type I	Short attention span, Hyperactivity, Seizure, Cognitive impairment	OMIM:238700
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:232400
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Generalized myoclonic seizure, Cerebral atrophy, Neurodegeneration, Mental de...	OMIM:610951
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Hyperactivity, Generalized-onset seizure, Cerebral atrophy, Seizure, Irritability	OMIM:616657
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Short stature, Splenomegaly, Growth delay, Hyperuricemia, Increased h...	OMIM:261750
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr...	OMIM:306000
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy...	OMIM:609968
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia, Short stature	ORPHA:364
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased ...	ORPHA:276556
Lennox-Gastaut Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Aggressive behavior...	ORPHA:2382
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Insulin res...	ORPHA:73272
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
2P21 Microdeletion Syndrome	Hypoglycemia, Growth delay, Hypogonadism, Hypocalcemia, Failure to thrive	ORPHA:163693
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:609016
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu...	OMIM:619386
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Frontotemporal dementia, Frontal lobe dementia, Irritability, Deme...	OMIM:600274
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ...	ORPHA:199296
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Small for gestational age, Elevated circulating aspartate aminotransferase concentr...	OMIM:617093
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Crigler-Najjar Syndrome Type 1	Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n...	ORPHA:79234
Hartnup Disorder	Hyperactivity, Seizure, Attention deficit hyperactivity disorder, Emotional lability, Generalized...	OMIM:234500
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ...	ORPHA:101039
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:617049
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth...	OMIM:613027
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Decreased circulating aldosterone level...	OMIM:610600
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Diabetes mellitus, Abnormal biliary tract morphology, Cholelithiasis, I...	ORPHA:438274
Rotor Syndrome	Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he...	ORPHA:3111
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset trunc...	ORPHA:71529
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co...	ORPHA:94086
Hypoadrenocorticism, Familial	Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency	OMIM:240200
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:79235
Galactokinase Deficiency	Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul...	ORPHA:79237
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating...	OMIM:616860
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Growth delay, H...	ORPHA:3363
Intellectual Developmental Disorder, X-Linked 72	Seizure, Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Intrauterine growth retar...	ORPHA:26792
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated...	OMIM:615158
Schizophrenia 15	Hyperactivity	OMIM:613950
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insuli...	ORPHA:1667
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis	OMIM:261650
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Decreased b...	ORPHA:231140
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating branched chain amino acid conce...	ORPHA:2394
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev...	ORPHA:556037
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a...	ORPHA:79644
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:617950
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Cerebral atrophy, Seizure, Myoclonus, Mental deterioration, Neuronal loss in centr...	OMIM:615924
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Hypoglycemia, Failu...	ORPHA:289504
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Hyperammonemia	ORPHA:35
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun...	OMIM:619256
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra...	ORPHA:79096
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Fa...	OMIM:613845
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality	OMIM:237500
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein...	OMIM:251880
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev...	ORPHA:556030
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Postnatal growth reta...	ORPHA:453533
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Diabetic...	OMIM:615238
Glycine Encephalopathy 1	Death in infancy, Hyperactivity, Restlessness, Impulsivity, Aggressive behavior, Agenesis of corp...	OMIM:605899
Inherited Creutzfeldt-Jakob Disease	Short attention span, Amyloidosis of peripheral nerves, Confusion, Progressive forgetfulness, Dep...	ORPHA:282166
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Short stature, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, P...	ORPHA:2089
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Short stature, Small for gestational age, Precocious puberty, Insulin-resistant dia...	OMIM:262190
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos...	OMIM:610947
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:618120
Fanconi-Bickel Syndrome	Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Postna...	OMIM:227810
Rasmussen Subacute Encephalitis	Subcortical cerebral atrophy, Hyperactivity, Bilateral tonic-clonic seizure with generalized onse...	ORPHA:1929
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t...	ORPHA:2126
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Hypoglycemia	OMIM:610090
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia, Elevated cir...	OMIM:618838
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure	OMIM:619031
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Glycosuria, Elevated circulating creatinine concentration, Increas...	OMIM:614817
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia, Jaundice	OMIM:237450
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia, Jaundice	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Crigler-Najjar Syndrome, Type Ii	Jaundice, Unconjugated hyperbilirubinemia	OMIM:606785
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Short attention span, Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal dementia, Fr...	ORPHA:412066
Alzheimer Disease 9, Susceptibility To	Neurofibrillary tangles, Depression, Disinhibition, Hippocampal atrophy, Senile plaques, Memory i...	OMIM:608907
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car...	ORPHA:79159
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia	OMIM:614741
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Hypoglycem...	OMIM:616113
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Conjugated hyperbilirubinemia, Mic...	OMIM:617156
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Temple Syndrome	Short stature, Decreased response to growth hormone stimulation test, Small for gestational age, ...	ORPHA:254516
Mehmo Syndrome	Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, O...	OMIM:300148
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Decreased li...	OMIM:246900
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Small for gestational age, Hyperammonemia, Hyperalaninemia, Failure to thrive, Intr...	OMIM:614702
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
Crigler-Najjar Syndrome, Type I	Jaundice, Unconjugated hyperbilirubinemia	OMIM:218800
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin ...	ORPHA:79085
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Small for gestational age, Intrauterine growth retardation, Hypoglycemia	ORPHA:231147
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia	ORPHA:664
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	ORPHA:79303
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Increased total bil...	ORPHA:890
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T...	OMIM:606176
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Postnatal growth retardation, Hypoglycemia	OMIM:616111
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Phonic tics, Seizure, Hippocampal at...	OMIM:301107
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Seizure, Hyperactivity	OMIM:613402
Neurodegeneration With Brain Iron Accumulation 6	Depression, Neurodegeneration, Compulsive behaviors, Mental deterioration, Motor tics	OMIM:615643
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	ORPHA:361
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating ...	ORPHA:90791
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Pancreatitis, Hyperammonemia	OMIM:620137
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia, Postnatal growth retardation, Increased insulin like growth factor bind...	OMIM:619489
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Short...	OMIM:616026
Malaria	Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
Laron Syndrome	Severe short stature, Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed...	ORPHA:633
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st...	OMIM:615710
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Decreased...	ORPHA:435660
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis...	ORPHA:280356
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista...	OMIM:604367
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Hepatomegaly	OMIM:266150
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Growth delay, Increased circulating renin level, Failure to thrive, D...	OMIM:203400
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensiti...	ORPHA:171876
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo...	ORPHA:913
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem...	ORPHA:199299
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb...	ORPHA:95715
Stxbp1-Related Encephalopathy	Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	ORPHA:599373
Amyloidosis, Cutaneous Bullous	Amyloidosis	OMIM:204900
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Seizure, Hyperactivity	ORPHA:436151
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Orthostatic Hypotension 1	Hypomagnesemia, Neonatal hypoglycemia, Reduced circulating prolactin concentration, Increased blo...	OMIM:223360
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	ORPHA:42
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Amyloidosis, Primary Localized Cutaneous, 2	Cutaneous amyloidosis	OMIM:613955
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia	OMIM:237800
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c...	OMIM:177735
Diaminopentanuria	Seizure, Neurodegeneration	OMIM:222350
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent...	OMIM:262600
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ...	OMIM:261680
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hyperalaninemia, Failure to thrive, Hypoglycemia, Hyperammonemia	OMIM:614739
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:300559
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt...	ORPHA:263455
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Fanconi-Bickel Syndrome	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolerance, Elevated circu...	ORPHA:2088
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:212140
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi...	OMIM:618858
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:245400
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia	OMIM:143500
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, ...	ORPHA:90790
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive...	OMIM:619827
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Idiopathic Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta...	ORPHA:95717
Endocardial Fibroelastosis	Anterior hypopituitarism, Hypoglycemia	ORPHA:2022
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He...	OMIM:235555
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration...	ORPHA:230
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Hypoglycemia	OMIM:300438
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin	ORPHA:2924
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Cerebral atrophy, Seizure, Inappropriate behavior, Neurodegenerat...	ORPHA:309246
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Hypoglycemia, Decreased liver function	ORPHA:67048
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Go...	ORPHA:95716
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Cerebral atrophy, Seizure, Neurodegeneration, Dysphagia, Mental deterioration...	OMIM:617672
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera...	OMIM:264350
Acute Adrenal Insufficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Adrenal hypoplas...	ORPHA:95409
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve...	OMIM:202200
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:613404
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Aggressive behavior, Cerebral atrophy, Seizure, Dementia, Neurodegeneration, ...	OMIM:300894
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia	OMIM:616483
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics	OMIM:619927
Bachmann-Bupp Syndrome	Hypoglycemia, Hyperbilirubinemia, Large for gestational age	OMIM:619075
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula...	ORPHA:264580
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-...	ORPHA:435651
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Intrauterine growth retardation, Failu...	OMIM:618958
Hyperprolinemia, Type I	Hyperactivity, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mannerisms	OMIM:239500
Juvenile Huntington Disease	Cerebellar atrophy, Hyperactivity, Depression, Seizure, Irritability, Dementia, Myoclonus, Cerebe...	ORPHA:248111
Variant Abeta2M Amyloidosis	Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, Renal amyloidosis, ...	ORPHA:314652
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Growth delay,...	OMIM:615453
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Postnatal growth retardation, Hypoglycemia, Short stature, Small for gestational age	ORPHA:231137
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, H...	ORPHA:348
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Addison Disease	Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem...	ORPHA:85138
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati...	OMIM:619355
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Failure to thrive, Neon...	OMIM:619046
Infantile Sialic Acid Storage Disease	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hydrocephalus, Failure to thrive	OMIM:269920
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Mirage Syndrome	Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Short stature, Hy...	OMIM:617053
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure	ORPHA:156
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Short attention span, Hyperactivity, Impulsivity, Neurofibrillary tangles, Ce...	OMIM:610217
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic liver disease, Increased total bilirubin	OMIM:174050
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegal...	OMIM:601847
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ...	OMIM:608836
Myeloma, Multiple	Amyloidosis	OMIM:254500
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Dementia, Neurodegeneration, Depression	OMIM:615889
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi...	ORPHA:95619
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Alzheimer Disease 4	Neurofibrillary tangles, Cerebral amyloid angiopathy, Dementia, Cognitive impairment, Senile plaq...	OMIM:606889
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ...	OMIM:606407
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea...	ORPHA:79084
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620125
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Seizure, Diminished ability to concentrate, Febrile seizure (...	OMIM:615516
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Seizure, Irritability, Compulsive behaviors, Atte...	OMIM:261600
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Obesity, ...	ORPHA:254531
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Failure to t...	OMIM:251000
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co...	OMIM:609015
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H...	ORPHA:3008
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Hydrocephalus, Seizure, Abnormal repetitive mannerisms	OMIM:619470
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Hypogonadotropic hypogonadism, Short stature, Hypoglycemia	ORPHA:48431
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Decreased liver function, Incr...	OMIM:616299
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:212138
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Retinopathy Of Prematurity	Vitreous hemorrhage	ORPHA:90050
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul...	ORPHA:79240
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc...	ORPHA:158057
Late Infantile Neuronal Ceroid Lipofuscinosis	Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, Hyperactivity, Typi...	ORPHA:168491
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El...	ORPHA:289548
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Short stature, Hydrocephalus, Growth delay, Hyperbilirubinemia, De...	OMIM:614886
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating lute...	ORPHA:168558
Glutaric Acidemia I	Hepatomegaly, Hypoglycemia, Hydrocephalus, Lateral ventricle dilatation, Elevated circulating glu...	OMIM:231670
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Moderate...	ORPHA:69076
Hijazi-Reis Syndrome	Postnatal growth retardation, Hyperbilirubinemia	OMIM:301094
Propionic Acidemia	Hepatomegaly, Short stature, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Failure to thrive, Pa...	OMIM:606054
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Intrauterine growth retardation, Hypoglycemia, Hyperammonemia	OMIM:618253
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Short stature, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbil...	OMIM:211600
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Self-injurious behavior, Seiz...	ORPHA:382
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generaliz...	OMIM:271980
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Obesity, Short stature	ORPHA:369873
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Retinal Capillary Malformation	Vitreous hemorrhage, Hyphema	ORPHA:71213
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Short stature, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delayed puberty	OMIM:616033
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia	OMIM:607398
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating aspartate amino...	OMIM:620300
Intellectual Developmental Disorder, X-Linked 30	Short attention span, Hyperactivity, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh...	OMIM:300558
Glucocorticoid Resistance, Generalized	Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s...	OMIM:615962
Aminoacylase 1 Deficiency	Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Cer...	OMIM:609924
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Maple Syrup Urine Disease	Pancreatitis, Elevated circulating branched chain amino acid concentration, Hypoglycemia, Elevate...	OMIM:248600
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Short stature, Hepatocellular carcinom...	OMIM:232200
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Abnormal neu...	ORPHA:163681
Cln5 Disease	Cerebellar atrophy, Hyperactivity, Generalized-onset seizure, Aggressive behavior, Corpus callosu...	ORPHA:228360
Fg Syndrome 3	Death in infancy, Hyperactivity, Fine hair, Frontal upsweep of hair, Sparse hair, Agenesis of cor...	OMIM:300406
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl...	OMIM:614921
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Short stature, Adrenal hypoplasia, ...	ORPHA:95496
Osteopetrosis, Autosomal Recessive 9	Postnatal growth retardation, Elevated circulating creatinine concentration, Hyperparathyroidism,...	OMIM:620366
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Conjugated hyperbilirubin...	ORPHA:30391
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr...	ORPHA:766
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatin...	ORPHA:681
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance	OMIM:307500
Obesity And Hypopigmentation	Hepatic steatosis, Hyperinsulinemia, Obesity	OMIM:620195
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, H...	ORPHA:79319
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,...	ORPHA:293978
Renal Hypoplasia, Bilateral	Hyponatremia, Short stature, Small for gestational age, Hyperkalemia, Growth delay, Glycosuria, F...	ORPHA:97362
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Failure to thrive, Goiter, Pitui...	ORPHA:90674
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Abnormal lower motor neuron morphology, Impulsivity, Depression, Dementia, Ne...	OMIM:614298
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Insulin res...	ORPHA:528
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Glucose intolerance, Abnormality of iron homeostasis, Splenomegaly	ORPHA:75563
Donohue Syndrome	Precocious puberty, Postnatal growth retardation, Hyperinsulinemia, Cholestasis, Severe failure t...	OMIM:246200
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Hypophosphat...	OMIM:229600
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Elevated circulati...	ORPHA:99901
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Small for gestational age, Abnormality of the pancreas, Jaundice, ...	ORPHA:69665
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Hypogonadism, Hypoalbuminemia, Adrenal insufficiency, Hypothy...	OMIM:617575
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Seizure, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Acys Amyloidosis	Amyloidosis, Cerebral amyloid angiopathy	ORPHA:100008
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ...	OMIM:620292
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hypoglycemia, Hyperuricemia, Hyperammonemia	OMIM:246450
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Seizure, Neurodegeneration, Atrophy/Degeneration affecting the brainstem, Men...	OMIM:612319
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypera...	OMIM:201475
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta...	OMIM:619484
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 Iv Deficiency, Nuclear Type 12	Hypoglycemia, Elevated circulating creatine kinase concentration, Small for gestational age, Hypo...	OMIM:619055
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Jaundice, Hyperammonemia, Hyperprolinemia...	OMIM:615751
Apparent Mineralocorticoid Excess	Short stature, Small for gestational age, Growth delay, Hypokalemia, Failure to thrive, Decreased...	OMIM:218030
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Aggres...	OMIM:610042
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Generalized myo...	OMIM:618090
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Self-injurious behavior, Seizure, Brain atrophy, Bruxism, Abnormal repetitive mann...	OMIM:618718
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,...	OMIM:201400
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic stea...	ORPHA:363400
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating acylcarnitine concentration, Hy...	ORPHA:159
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Rabson-Mendenhall Syndrome	Increased pineal volume, Impaired glucose tolerance, Short stature, Precocious puberty, Insulin-r...	ORPHA:769
Pseudohypoaldosteronism Type 2	Growth delay, Hyperkalemia, Short stature	ORPHA:757
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines	OMIM:301076
Glycogen Storage Disease Xii	Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Splenomegaly, Ja...	OMIM:611881
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Obesity	OMIM:618406
Hypothyroidism Due To Tsh Receptor Mutations	Thyroid hypoplasia, Increased circulating thyroglobulin level, Goiter, Elevated circulating thyro...	ORPHA:90673
Clcn4-Related X-Linked Intellectual Disability Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Generalized...	ORPHA:485350
Developmental And Epileptic Encephalopathy 109	Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a...	OMIM:620145
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature adrenarche, Hyponatremia, Hypogonadotropic hypogo...	ORPHA:90794
Cystinosis	Short stature, Portal hypertension, Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia...	ORPHA:213
Harderoporphyria	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Prolonged neonatal jaun...	OMIM:618892
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Irritabili...	ORPHA:3077
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Growth delay, Increased circulating renin level, Adrenal insufficienc...	ORPHA:427
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Hypoglycemia, Hyperammonemia, Hyperleucinemia, Failure to thrive	OMIM:210210
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:26793
Paternal Uniparental Disomy Of Chromosome 1	Short stature, Hypercalcemia, Obesity, Increased blood urea nitrogen, Delayed puberty	ORPHA:251004
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Hypoalbuminemia, Macrovesicular hepatic steatosis, D...	OMIM:618329
Glycogen Storage Disease Vii	Elevated circulating creatine kinase concentration, Jaundice, Hyperuricemia, Cholelithiasis, Incr...	OMIM:232800
Wilson Disease	Hypoparathyroidism, Acute hepatic failure, Hepatomegaly, Decreased circulating ceruloplasmin conc...	OMIM:277900
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia	ORPHA:5
Pseudohypoaldosteronism, Type Iia	Pseudohypoaldosteronism, Hyperkalemia	OMIM:145260
Birk-Landau-Perez Syndrome	Failure to thrive in infancy, Hyperkalemia, Growth delay, Increased circulating creatine kinase M...	OMIM:617595
Silver-Russell Syndrome 2	Intrauterine growth retardation, Short stature, Neonatal hypoglycemia	OMIM:618905
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb...	OMIM:208085
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Pancreatic fibrosis, Hepa...	OMIM:557000
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl...	ORPHA:79239
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Amyloidosis	OMIM:204850
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone c...	OMIM:131100
Krabbe Disease	Diffuse cerebral atrophy, Hydrocephalus, Seizure, Neurodegeneration, Motor deterioration	OMIM:245200
Tenorio Syndrome	Hydrocephalus, Hypoglycemia, Hypoinsulinemia	OMIM:616260
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short stature, Small for gestational age, Maturity-onset diabetes of the young, Precocious pubert...	ORPHA:96184
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to...	OMIM:619418
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce...	OMIM:613239
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyperin...	OMIM:602579
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Short stature, Hyperinsulinemia, Obesity, Type II diabetes mellitus	ORPHA:3085
Intellectual Developmental Disorder, X-Linked 77	Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity	OMIM:300454
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Short stature, Splenomegaly, Weight loss, Hepatosplenomegaly, Unconjugated hyperbil...	OMIM:613673
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome	OMIM:201910
Dubin-Johnson Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ...	ORPHA:234
D-Glyceric Aciduria	Growth delay, Failure to thrive, Hypoglycemia, Nonketotic hyperglycinemia	OMIM:220120
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
Timothy Syndrome	Hypothyroidism, Hypocalcemia, Hypoglycemia	OMIM:601005
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Aggressive behavior, Cerebral atrophy, Dysphagia, Depression, Neurodegenerati...	OMIM:615157
Neurooculorenal Syndrome	Decreased circulating cortisol level, Ectopic posterior pituitary, Conjugated hyperbilirubinemia,...	OMIM:620305
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati...	ORPHA:26791
Bangstad Syndrome	Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cort...	ORPHA:1227
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Short stature, Pancreatic fibrosis, He...	OMIM:232220
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Hypoglycemia	OMIM:608688
Retinoschisis 1, X-Linked, Juvenile	Vitreous hemorrhage	OMIM:312700
Leptin Deficiency Or Dysfunction	Hypogonadism, Obesity, Decreased serum leptin	OMIM:614962
Tyrosinemia, Type I	Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemi...	OMIM:276700
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Hypocalcemia, Autosomal Dominant 1	Short stature, Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, I...	OMIM:601198
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Cholelithiasis, Splenomegaly, Jaundice, Cholecystitis, Unconjugated hyperbilirubine...	OMIM:266200
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia, Short stature	OMIM:248360
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul...	OMIM:603553
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated cir...	ORPHA:228308
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth retardation, ...	ORPHA:2457
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis	OMIM:605479
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Hydrocephalus, Hypoglycemia	OMIM:616355
Neurodegeneration With Brain Iron Accumulation 3	Subcortical dementia, Dementia, Neurodegeneration, Disinhibition, Dysphagia, Emotional lability	OMIM:606159
Silver-Russell Syndrome Due To A Point Mutation	Small for gestational age, Hypoglycemia, Postnatal growth retardation, Intrauterine growth retard...	ORPHA:397590
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Short stature, El...	OMIM:608779
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Short stature, Small for gestational age, Growth delay, Recurrent hypoglycemia, Delayed puberty, ...	OMIM:616817
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Motor neuron atrophy, Depression, Agitation, Neurodegeneration, Em...	ORPHA:803
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated...	OMIM:619685
Retinitis Pigmentosa	Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity	ORPHA:791
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Short stature, Increased serum iron, Increased total iron binding ...	ORPHA:98870
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic...	OMIM:617600
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ...	ORPHA:480864
Hsd10 Disease, Infantile Type	Hypoglycemia, Hyperammonemia	ORPHA:391428
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hyperactivity, Seizure, Inappropriate laughter, Polyphagia	ORPHA:411515
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Small for gestational age, Mild postnatal growth retardation, Splenomegaly, Hyperbi...	OMIM:224120
Abeta Amyloidosis, Dutch Type	Mental deterioration, Seizure, Dementia, Cerebral amyloid angiopathy	ORPHA:100006
Amyloidosis, Finnish Type	Cardiac amyloidosis, Generalized amyloid deposition	OMIM:105120
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Hepatic steatosis, Short stature, Hypoglycemia, Small for gestatio...	OMIM:613658
Glycogen Storage Disease Due To Aldolase A Deficiency	Growth delay, Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase...	ORPHA:786
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan...	ORPHA:2137
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hypert...	OMIM:203800
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio...	OMIM:231680
Cerebral Amyloid Angiopathy, Cst3-Related	Dementia, Generalized amyloid deposition	OMIM:105150
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ...	OMIM:616878
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Anorexia, Abnormal left ventricular function, Ecchymosis, Internal hemorrhag...	ORPHA:99827
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Intrauterine growth reta...	ORPHA:2609
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia	ORPHA:134
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Short stature, Decreased response to growth hormone stimulation test, Fasting hypoglycemia	ORPHA:436174
Leprechaunism	Hepatomegaly, Decreased body weight, Postnatal growth retardation, Insulin resistance, Hyperinsul...	ORPHA:508
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Increased blood urea n...	ORPHA:90321
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic necrosis, Hypoglycemic seizures, Growth delay, Hepatic steatos...	OMIM:231530
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, In...	OMIM:235200
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Short stature, Hyperglycerolemia, ...	OMIM:307030
Intellectual Developmental Disorder, X-Linked 107	Seizure, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Amyloidosis, Primary Localized Cutaneous, 1	Amyloidosis	OMIM:105250
Hereditary Elliptocytosis	Postnatal growth retardation, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaun...	ORPHA:288
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Adrenoleukodystrophy	Seizure, Dementia, Neurodegeneration, Attention deficit hyperactivity disorder, Mental deterioration	OMIM:300100
Silver-Russell Syndrome 1	Small for gestational age, Decreased response to growth hormone stimulation test, Fasting hypogly...	OMIM:180860
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Lysosomal Acid Lipase Deficiency	Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Failure to thrive, Hepati...	ORPHA:14
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Seizure, Attenti...	OMIM:620242
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c...	ORPHA:91355
Lujo Hemorrhagic Fever	Shock, Excessive bleeding after a venipuncture, Myocarditis, Subconjunctival hemorrhage, Bradycar...	ORPHA:319213
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose...	OMIM:219090
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis	OMIM:235700
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula...	OMIM:218700
Cog8-Cdg	Elevated hepatic transaminase, Failure to thrive, Hypoglycemia	ORPHA:95428
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Attention deficit hyperactivit...	OMIM:620141
Hereditary Fructose Intolerance	Hepatomegaly, Reactive hypoglycemia, Jaundice, Hypermagnesemia, Growth delay, Hyperuricemia, Hypo...	ORPHA:469
Congenital Disorder Of Glycosylation, Type Ig	Small for gestational age, Rhizomelia, Hypoglycemia, Hypocalcemia, Failure to thrive	OMIM:607143
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype...	ORPHA:340
Silver-Russell Syndrome	Short stature, Failure to thrive in infancy, Cachexia, Precocious puberty, Postnatal growth retar...	ORPHA:813
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Abnormality of the thyroid gland, Jaundice, H...	ORPHA:186
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis	OMIM:201450
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614495
Relapsing Fever	Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, E...	ORPHA:91547
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia	OMIM:601775
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Growth delay, Elevated circulati...	ORPHA:66634
Apparent Mineralocorticoid Excess	Short stature, Hypokalemia, Abnormality of circulating cortisol level, Intrauterine growth retard...	ORPHA:320
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva...	ORPHA:90793
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Vipoma	Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Hypokal...	ORPHA:97282
Genetic Recurrent Myoglobinuria	Elevated hepatic transaminase, Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, ...	ORPHA:99845
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Growth delay, Hypokalemia, Hyperactive renin-angiotensin system, Inc...	OMIM:214700
Liver Disease, Severe Congenital	Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He...	OMIM:619991
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Growth delay, Glycosuria, Hypokalem...	ORPHA:3337
Myoclonic-Astatic Epilepsy	Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Simple feb...	ORPHA:1942
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated ci...	OMIM:617253
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:614887
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Brain atrophy, C...	ORPHA:369939
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Hypoglycemia, Short stature, Elevated circulating aspartate ...	OMIM:256810
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Short stature, Hepatocellula...	ORPHA:79259
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage	ORPHA:88619
Cerebral Visual Impairment	Short attention span, Hydrocephalus, Central nervous system degeneration, Seizure, Neurodegenerat...	ORPHA:447788
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614496
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Subconjunctival hemorrhage, Ecchymosis, Bruisi...	ORPHA:464329
Spherocytosis, Type 1	Splenomegaly, Jaundice, Cholelithiasis, Hyperbilirubinemia	OMIM:182900
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia...	ORPHA:79086
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Diffuse hepatic stea...	ORPHA:746
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic...	OMIM:609812
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, D...	ORPHA:280365
Cholera	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia	ORPHA:173
Sickle Cell Anemia	Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho...	ORPHA:232
Graft Versus Host Disease	Elevated hepatic transaminase, Jaundice, Chronic hepatitis, Hepatosplenomegaly, Hyperbilirubinemi...	ORPHA:39812
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalemia,...	OMIM:608885
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Rett Syndrome	Increased serum pyruvate, Hyperammonemia, Cholecystitis, Increased serum leptin, Failure to thrive	ORPHA:778
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Growth delay, Glucose into...	OMIM:608612
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Smith-Kingsmore Syndrome	Rhizomelia, Hypoglycemia, Large for gestational age	OMIM:616638
Spherocytosis, Type 4	Splenomegaly, Jaundice, Hyperbilirubinemia	OMIM:612653
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Hypoketotic hypoglycemia, Increased circulating free fatty acid level	OMIM:610768
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Increased blood ur...	OMIM:154230
Distal Xq28 Microduplication Syndrome	Hypothyroidism, Neonatal hyperbilirubinemia, Short stature	ORPHA:293939
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Short stature, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Growth delay, Hypoc...	OMIM:259720
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization	OMIM:193235
Dehydrated Hereditary Stomatocytosis 2	Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia	OMIM:616689
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Intrauterine growth retardation, Hypoglycemia	OMIM:617710
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Short stature, Premature thelarche, Iso...	ORPHA:90795
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Se...	ORPHA:449291
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Elevated hepatic transaminase, Short stature, Decreased response to growth hormone ...	ORPHA:293987
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipidemia, Xanth...	OMIM:232240
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Hydrocephalus, Jaundice, Hyperammonemia,...	ORPHA:79282
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Progressive neurologic deterioration, Seizure, Neur...	OMIM:214150
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Impaired glucose tolerance, Postnatal growth retardation, Hyperlipidemi...	OMIM:248370
Thrombotic Thrombocytopenic Purpura, Hereditary	Prolonged neonatal jaundice, Elevated circulating creatinine concentration, Jaundice, Increased b...	OMIM:274150
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce...	OMIM:608594
Perlman Syndrome	Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia	ORPHA:2849
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hyperaldosteronism	OMIM:605635
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia, Short stature	ORPHA:66518
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Focal-onset seizure, Hydrocephalus, Seizure, Neurodegeneration, Inappropriate laughter, Cognitive...	OMIM:618476
Spherocytosis, Type 2	Splenomegaly, Jaundice, Hyperbilirubinemia	OMIM:616649
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Pancreatic hypoplasia, H...	OMIM:609069
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Short stature, Postnata...	ORPHA:96180
Hereditary Spherocytosis	Hepatomegaly, Splenomegaly, Jaundice, Growth delay, Hyperbilirubinemia, Cholelithiasis	ORPHA:822
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin...	ORPHA:464321
Developmental And Epileptic Encephalopathy 103	Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epile...	OMIM:619913
Dehydrated Hereditary Stomatocytosis	Portal vein thrombosis, Increased circulating ferritin concentration, Splenomegaly, Intermittent ...	ORPHA:3202
Immunodeficiency, Common Variable, 10	Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ...	OMIM:615577
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia	OMIM:611126
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentra...	OMIM:201810
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Small for gestational age, Elevated circulating as...	OMIM:614866
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short stature, Hypoglycemia, Intrauterine growth retardation, Failure to thrive, Hypothyroidism	OMIM:618005
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529799
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice	OMIM:185000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Infantile Neuroaxonal Dystrophy	Psychomotor deterioration, Short attention span, Hyperactivity, Cerebellar atrophy, Impulsivity, ...	ORPHA:35069
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Rh Deficiency Syndrome	Jaundice, Hepatosplenomegaly, Hyperbilirubinemia, Intrauterine growth retardation, Reduced haptog...	ORPHA:71275
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:49041
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia	ORPHA:713
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Acute pancreatitis, Jaundic...	ORPHA:20
Marburg Hemorrhagic Fever	Abnormal bleeding, Shock, Tachycardia, Pericarditis, Anorexia, Aggressive behavior, Excessive ble...	ORPHA:99826
Fanconi Renotubular Syndrome 1	Glycosuria, Hypokalemia, Short stature, Hypophosphatemia	OMIM:134600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Increased total bilirubin	ORPHA:90037
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration	ORPHA:438134
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Growth delay, Hypokalemia, Short stature, Hyperamylasemia	OMIM:604278
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Shigellosis	Hyponatremia, Hypoglycemia, Failure to thrive in infancy, Peritonitis, Abnormal blood ion concent...	ORPHA:810
Mirizzi Syndrome	Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperbilirubinemia...	ORPHA:521219
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Growth delay, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Intrauterine growth retardation, Hypoglycemia	OMIM:620275
Eales Disease	Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vitreous hemorrhage,...	ORPHA:40923
Fumarase Deficiency	Intrahepatic cholestasis, Hyperbilirubinemia, Hepatic failure, Failure to thrive, Agenesis of cor...	OMIM:606812
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Short stature, Conjugated hyperbilirubinemia, Postnatal growth retar...	ORPHA:168577
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ...	ORPHA:189427
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Cerebral atrophy, Seizure, Neurodegeneration, Neuronal loss in central nervou...	OMIM:256600
Gm2-Gangliosidosis, Ab Variant	Cerebral atrophy, Myoclonic seizure, Seizure, Dementia, Neurodegeneration	OMIM:272750
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, He...	ORPHA:699
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium	ORPHA:100924
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, ...	ORPHA:94093
Exudative Vitreoretinopathy 4	Vitreous hemorrhage	OMIM:601813
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Hypokalemia, Hyperthyroidism, Goiter	OMIM:188580
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Basilicata-Akhtar Syndrome	Precocious puberty, Neonatal hypoglycemia	OMIM:301032
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati...	OMIM:124000
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Paroxysmal Nocturnal Hemoglobinuria	Decreased serum iron, Jaundice, Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, G...	ORPHA:447
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Splenomegaly, Jaundice, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Decreased g...	OMIM:300908
Atypical Werner Syndrome	Hepatic steatosis, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Short stature, Abn...	ORPHA:79474
Shashi-Pena Syndrome	Intrauterine growth retardation, Hypoglycemia	OMIM:617190
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:229700
Nelson Syndrome	Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo...	ORPHA:199244
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Leigh Syndrome	Hypoglycemia, Growth delay, Hepatic failure, Hyperalaninemia, Failure to thrive, Agenesis of corp...	ORPHA:506
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Myelomeningocele, ...	OMIM:607330
Mucopolysaccharidosis, Type Iiib	Seizure, Hyperactivity, Progressive neurologic deterioration, Aggressive behavior	OMIM:252920
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ...	ORPHA:403
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90036
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:96182
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	OMIM:201750
Alg12-Cdg	Hyponatremia, Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Recurr...	ORPHA:79324
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Dementia, Progressive neurologic deterioration, Cerebral amyloid angiopathy	OMIM:176500
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Seizure, Neurodegeneration	OMIM:620210
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Growth delay, Glycosur...	ORPHA:411634
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Growth delay, Hypokalemia, Failure to thrive	OMIM:602722
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Neurofibrillary tangles, Cerebral amyloid angiopathy	OMIM:117300
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Hydrocephalus, Cholestasis, Weight loss, Hypokalemia, Portal fi...	OMIM:619377
X-Linked Cerebral Adrenoleukodystrophy	Short attention span, Hyperactivity, Confusion, Myelopathy, Limb myoclonus, Seizure, Dysphagia, M...	ORPHA:139396
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi...	OMIM:613471
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Failure to thrive, Short stature, Hepatosplenomegaly	OMIM:611590
Rh-Null, Regulator Type	Jaundice, Unconjugated hyperbilirubinemia	OMIM:268150
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hypoglycemia, Decreased response to growth hormone stimulation test, Short stature, Hydrocephalus...	OMIM:616007
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
X-Linked Adrenoleukodystrophy	Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Attention deficit hyperactivity diso...	ORPHA:43
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Aqueductal stenosis, Hypoalbuminemi...	OMIM:619534
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hypothyroidism, Growth delay, Hepatic steatosis, Neonatal hypoglyc...	ORPHA:445038
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Growth delay, ...	ORPHA:17
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus	OMIM:618314
Exudative Vitreoretinopathy 1	Vitreous hemorrhage, Retinal neovascularization	OMIM:133780
Holoprosencephaly	Hyponatremia, Encephalocele, Diabetes mellitus, Hypoglycemia, Failure to thrive in infancy, Abnor...	ORPHA:2162
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Liddle Syndrome 2	Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618126
Combined Oxidative Phosphorylation Defect Type 39	Intrauterine growth retardation, Lateral ventricle dilatation, Neonatal hypoglycemia	ORPHA:565624
Senior-Boichis Syndrome	Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con...	ORPHA:84081
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Short stature, Hydrocephalus, Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia, Pancreatitis	ORPHA:544482
Familial Exudative Vitreoretinopathy	Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization	ORPHA:891
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Short stature, Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogen...	OMIM:202010
Vitreoretinochoroidopathy	Vitreous hemorrhage, Retinal neovascularization	OMIM:193220
Liddle Syndrome 1	Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:177200
Ogden Syndrome	Short stature, Maternal diabetes, Postnatal growth retardation, Microvesicular hepatic steatosis,...	OMIM:300855
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Abnormal blood ion concentration, Hypophosphatemia, Growth del...	ORPHA:411629
East Syndrome	Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia	ORPHA:199343
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Seizure, Neurodegeneration, Status epilepticus, Neuronal loss in central nerv...	OMIM:616239
Neurodegeneration With Brain Iron Accumulation 1	Motor tics, Hyperactivity, Phonic tics, Depression, Dementia, Neurodegeneration, Dysphagia, Menta...	OMIM:234200
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Neonatal hypoglycemia, Large for gestational age	ORPHA:457485
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, Hypokalemia...	ORPHA:231625
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Hypoglycemia, Short stature, Prolonged neonatal jaundice	OMIM:233600
Ectopic Aldosterone-Producing Tumor	Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenocortical adenoma, Decre...	ORPHA:231632
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Hematochezia, Vasculitis, Subconjunctival hemorrhage, Vasculitis in the skin	OMIM:617718
Sotos Syndrome	Partial agenesis of the corpus callosum, Increased body weight, Glucose intolerance, Prolonged ne...	OMIM:117550
Kabuki Syndrome 2	Short stature, Postnatal growth retardation, Decreased body weight, Intrauterine growth retardati...	OMIM:300867
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Hypoglycemia, Splenomegaly, Growth delay, Hepatic failure, Hyperalaninemia, Failure...	OMIM:252010
Citrullinemia Type Ii	Restlessness, Hyperactivity, Confusion, Aggressive behavior, Abnormal eating behavior, Seizure, I...	ORPHA:247585
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Axonal degeneration, Neurodegeneration, Myoclonic spasms, Diffuse...	ORPHA:478029
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Infantile spasms, Aggressive behavior, Cerebral atrophy, Seizure, Irritability, Neurodegeneration...	OMIM:618321
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation, Hypoglycemia	ORPHA:457279
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi...	ORPHA:3464
Cystinosis, Nephropathic	Hyponatremia, Hepatomegaly, Diabetes mellitus, Short stature, Failure to thrive in infancy, Splen...	OMIM:219800
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Rhizomelia, Short stature, Cholangitis, Splenomegaly...	OMIM:613610
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Short stature, Hypoglycemia, Cachexia, Thyroid carcinoma, Hashimo...	ORPHA:109
Uveal Melanoma	Vitreous hemorrhage	ORPHA:39044
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Short stature, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Panc...	OMIM:208500
Amyloidosis, Familial Visceral	Generalized amyloid deposition	OMIM:105200
Persistent Hyperplastic Primary Vitreous	Hemorrhage of the eye	ORPHA:91495
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:251274
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased circulating cortisol level	OMIM:611489
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin...	OMIM:613095
X-Linked Dominant Chondrodysplasia Punctata	Severe postnatal growth retardation, Short stature, Neonatal hypoglycemia	ORPHA:35173
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant...	ORPHA:95494
Leptospirosis	Pericarditis, First degree atrioventricular block, Anorexia, Retinal hemorrhage, Subconjunctival ...	ORPHA:509
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Johanson-Blizzard Syndrome	Hepatomegaly, Diabetes mellitus, Short stature, Small for gestational age, Increased VLDL cholest...	OMIM:243800
Gitelman Syndrome	Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Delayed puberty, Hypermagnesemia...	ORPHA:358
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Peritonitis, Elevated circulating creatinine concentration, Hypokalemia, Unconjugat...	ORPHA:90038
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Decrease...	ORPHA:231580
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Overweight, Hydrocephalus, Jaundice, Obesity, Hyperbilirubinemia, ...	OMIM:619475
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Growth delay, Intrauterine growth retardation, Hepatic steatosis, Neonatal hypoglycemia	OMIM:616271
Atelis Syndrome 2	Vitreous hemorrhage, Attention deficit hyperactivity disorder, Pulmonic stenosis, Supravalvar pul...	OMIM:620185
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive	OMIM:613090
Liddle Syndrome	Hypokalemia	ORPHA:526
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Partial agenesis of the corpus callosum, Hydrocephalus, Disproportionate short stature, Severe po...	OMIM:210710
Perlman Syndrome	Large for gestational age, Agenesis of corpus callosum, Pancreatic islet-cell hyperplasia, Hypogl...	OMIM:267000
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Small for gestational age, Hypoglycemia	OMIM:614501
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Juvenile Xanthogranuloma	Hyphema	ORPHA:158000
Retinoblastoma	Vitreous hemorrhage, Hyphema, Subretinal pigment epithelium hemorrhage	ORPHA:790
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Hyperaldosteronism, Dexamethasone-s...	ORPHA:369929
Wars2-Related Combined Oxidative Phosphorylation Defect	Intrauterine growth retardation, Lateral ventricle dilatation, Neonatal hypoglycemia	ORPHA:572798
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Short sta...	OMIM:601678
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Precocious puberty, Obesity, Hepatosplenomegaly, Cholecystitis, Chole...	OMIM:301066
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosplenomegaly, Unco...	OMIM:618278
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Hyphema	OMIM:221900
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Short stature, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Amyloidosis, Hereditary, Transthyretin-Related	Seizure, Amyloidosis, Dementia, Confusion	OMIM:105210
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Primary hyperaldosteronism, Hypokalemia, Decreased circulating renin level	OMIM:615474
Deeah Syndrome	Hepatomegaly, Short stature, Decreased response to growth hormone stimulation test, Anterior pitu...	OMIM:619004
Acute Liver Failure	Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellula...	ORPHA:90062
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Hypoglycemia	OMIM:620224
Palmoplantar Carcinoma, Multiple Self-Healing	Cutaneous macular amyloidosis, Amyloidosis	OMIM:615225
Degcags Syndrome	Hepatomegaly, Small for gestational age, Cholestasis, Hepatosplenomegaly, Abnormal spleen morphol...	OMIM:619488
Lethal Congenital Contracture Syndrome 5	Death in infancy, Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
Histiocytoid Cardiomyopathy	Hepatomegaly, Hypoglycemia, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum	ORPHA:137675
Holoprosencephaly 1	Diabetes insipidus, Hypoglycemia, Adrenal hypoplasia, Alobar holoprosencephaly, Short stature, Et...	OMIM:236100
Yellow Fever	Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circu...	ORPHA:99829
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia	OMIM:175500
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Gitelman Syndrome	Hypomagnesemia, Growth delay, Hypokalemia, Increased circulating renin level, Delayed puberty, Fa...	OMIM:263800
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensi...	ORPHA:89938
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypoglycemia, Small for gestational age, Increased hepatocellular lipid droplets, Microvesicular ...	OMIM:220111
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein con...	ORPHA:116
Cerebral Amyloid Angiopathy, App-Related	Cerebral amyloid angiopathy	OMIM:605714
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Fasting hypoglycemia	ORPHA:25
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke	OMIM:611773
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Aa Amyloidosis	Amyloidosis, Renal amyloidosis	ORPHA:85445
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Short statu...	OMIM:176270
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Increased circulating renin ...	OMIM:607364
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab...	OMIM:137920
Pyruvate Dehydrogenase E2 Deficiency	Dementia, Neurodegeneration	ORPHA:79244
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Aplasia of the thymus, Short stature, Congenital hypothyroidism, Unconjugated hyperbilirubinemia,...	OMIM:620186
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Neurodegeneration, Cerebral atrophy	OMIM:615491
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Proximal Renal Tubular Acidosis	Mild postnatal growth retardation, Short stature, Bicarbonaturia, Growth delay, Hypokalemia, Glyc...	ORPHA:47159
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Highly arched eyebrow, Abnormal repetitive mannerisms, Hyphema, Dysphagia, Lateral ventricle dila...	ORPHA:261552
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Epistaxis, Anorexia, Congestive heart failure, Vasculitis, Retinal h...	ORPHA:33226
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr...	OMIM:192315
Oculodentodigital Dysplasia	Hypoglycemia	ORPHA:2710
Retinal Arteries, Tortuosity Of	Retinal hemorrhage	OMIM:180000
Phacoanaphylactic Uveitis	Hyphema, Retinal arteritis	ORPHA:209959
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Short stature, Small for gestational age, Hyp...	OMIM:241200
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Irritability, Brai...	ORPHA:447997
Choreoacanthocytosis	Caudate atrophy, Compulsive behaviors, Self-mutilation of tongue and lips due to involuntary move...	ORPHA:2388
Idiopathic Trachyonychia	Amyloidosis	ORPHA:79153
Argininemia	Cerebellar atrophy, Hyperactivity, Anorexia, Seizure, Irritability	OMIM:207800
Nestor-Guillermo Progeria Syndrome	Growth delay, Failure to thrive, Short stature, Decreased serum leptin	OMIM:614008
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Neurodegeneration, Dysphagia	OMIM:615919
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami...	OMIM:619573
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage	OMIM:264420
Idiopathic Aplastic Anemia	Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding	ORPHA:88
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R...	ORPHA:758
Macular Degeneration, Age-Related, 1	Macular hemorrhage	OMIM:603075
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage	OMIM:177850
Incontinentia Pigmenti	Alopecia, Telangiectasia of the skin, Supernumerary nipple, Abnormal hair morphology, Congestive ...	ORPHA:464
Rift Valley Fever	Abnormal bleeding, Miscarriage, Anorexia, Hematemesis, Retinal hemorrhage, Melena, Gingival bleeding	ORPHA:319251
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia	ORPHA:163956
Menkes Disease	Intrauterine growth retardation, Hypoglycemia, Prolonged neonatal jaundice	ORPHA:565
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Elevated circulating aspartate...	ORPHA:466677
3-Methylglutaconic Aciduria, Type Viii	Growth delay, Jaundice, Failure to thrive, Neonatal hypoglycemia	OMIM:617248
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive	OMIM:602522
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Mucopolysaccharidosis, Type Ii	Seizure, Hydrocephalus, Neurodegeneration	OMIM:309900
Aapoaiv Amyloidosis	Cutaneous amyloidosis, Renal interstitial amyloid deposits, Cardiac amyloidosis, Renal amyloidosis	ORPHA:439232
Hurler Syndrome	Hydrocephalus, Neurodegeneration, Progressive neurologic deterioration	OMIM:607014
Incontinentia Pigmenti	Alopecia, Supernumerary nipple, Retinal hemorrhage, Fine hair, Coarse hair, Breast aplasia, Hypop...	OMIM:308300
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Polysplenia, Hepatob...	ORPHA:373
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Slender build, Neonatal hypoglycemia, Large for gestational age	ORPHA:457359
Congenital Erythropoietic Porphyria	Abnormal circulating porphyrin concentration, Splenomegaly, Unconjugated hyperbilirubinemia, Incr...	ORPHA:79277
Periodic Fever, Familial, Autosomal Dominant	AA amyloidosis, Hepatic amyloidosis	OMIM:142680
Costello Syndrome	Hydrocephalus, Failure to thrive, Hypoglycemia, Short stature	OMIM:218040
Refractory Anemia With Excess Blasts	Abnormal bleeding, Palpitations, Retinal hemorrhage	ORPHA:86839
Central Retinal Vein Occlusion	Intraretinal hemorrhage, Retinal neovascularization	ORPHA:411527
Congenital Disorder Of Glycosylation, Type Iim	Intrauterine growth retardation, Lateral ventricle dilatation, Neonatal hyperbilirubinemia	OMIM:300896
Juvenile Polyposis Syndrome	Hypokalemia, Failure to thrive, Hypoalbuminemia	OMIM:174900
Multiple System Atrophy 1, Susceptibility To	Neurodegeneration, Cognitive impairment	OMIM:146500
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation, Failure to thrive, Decreased serum leptin	OMIM:614098
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus, Neonatal hypoglycemia	OMIM:261740
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia, Hyperthyroidism, Short stature	OMIM:170390
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Short stature, Failure to thrive in infancy, High urinary gonadotr...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Short stature, Failure to thrive in infancy, High urinary gonadotr...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Short stature, Failure to thrive in infancy, High urinary gonadotr...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Short stature, Failure to thrive in infancy, High urinary gonadotr...	ORPHA:881
Goodpasture Syndrome	Weight loss, Increased blood urea nitrogen	OMIM:233450
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Growth delay, Hypokalemia, Hypocalcemia	OMIM:617913
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hyperparathyroidism, Short stature, Hypoammonemia, Abnormal circulating calcium-pho...	ORPHA:534
Helix Syndrome	Hypokalemia, Hyperparathyroidism, Hypermagnesemia	OMIM:617671
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo...	ORPHA:273
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Sparse hair, Coarse hair, Thick hair, Subretinal pigment epithelium hemorrhage	ORPHA:357074
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Decreased serum leptin, Insulin resistance, Weight loss, Severe failure to t...	ORPHA:740
Mercury Poisoning	Hypokalemia	ORPHA:330021
Familial Drusen	Macular hemorrhage	ORPHA:75376
Mucopolysaccharidosis, Type Vii	Hydrocephalus, Neurodegeneration	OMIM:253220
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Adrenocortical carcinoma, Pancreatic hyperplasia, Hepato...	OMIM:130650
Chediak-Higashi Syndrome	Seizure, Neurodegeneration	OMIM:214500
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353281
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Granulomatosis With Polyangiitis	Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage	OMIM:608710
Nijmegen Breakage Syndrome	Hyperactivity, Neurodegeneration	OMIM:251260
Distal Renal Tubular Acidosis	Growth delay, Hypokalemia, Failure to thrive, Short stature	ORPHA:18
Tubulointerstitial Nephritis And Uveitis Syndrome	Vitreous hemorrhage, Anorexia	ORPHA:91500
Retinoblastoma	Vitreous hemorrhage	OMIM:180200
Cockayne Syndrome Type 3	Dry hair, Subdural hemorrhage, Retinal hemorrhage, Premature graying of hair, Cardiomyopathy, Inc...	ORPHA:90324
Systemic Mastocytosis With Associated Hematologic Neoplasm	Amyloidosis, Eosinophilia	ORPHA:98849
Trichinellosis	Retinal hemorrhage, Dysphagia	ORPHA:863
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Failure to thrive	OMIM:618426
Q Fever	Amyloidosis, Anorexia	ORPHA:781
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Cutaneous amyloidosis	OMIM:301220
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Familial Mediterranean Fever	Amyloidosis, Renal amyloidosis	OMIM:249100
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353277
Primrose Syndrome	Restlessness, Aggressive behavior, Self-injurious behavior, Seizure, Neurodegeneration, Tics, Att...	OMIM:259050
Primary Sclerosing Cholangitis	Amyloidosis, Abnormal eosinophil morphology, Depression	ORPHA:171
Cockayne Syndrome	Hypertension, Dry hair, Retinal hemorrhage, Fine hair	ORPHA:191
Pmm2-Cdg	Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Elevated circulating growth hormone...	ORPHA:79318
Sympathetic Ophthalmia	Alopecia, Retinal hemorrhage, Poliosis	ORPHA:79098
Pierson Syndrome	Hypertension, Retinal hemorrhage, Death in childhood	OMIM:609049
Sotos Syndrome	Hypothyroidism, Hypercalcemia, Neonatal hypoglycemia, Prolonged neonatal jaundice	ORPHA:821
Generalized Arterial Calcification Of Infancy	Transient ischemic attack, Retinal hemorrhage, Hypertension, Weak pulse, Left ventricular systoli...	ORPHA:51608
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal neovascularization, Ischemic stroke, Retinal hemorrhage, Cerebral hemorrhage	OMIM:175780
Vascular Ehlers-Danlos Syndrome	Hypokalemia, Short stature	ORPHA:286
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus, Hypogonadism, Short stature	ORPHA:3042

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Zbtb20

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Zbtb20.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
ZBTB20 is crucial for the specification of a subset of callosal projection neurons and astrocytes in the mammalian neocortex.	Development (Cambridge, England) (August 2021)	Zbtb20^{tm1c(EUCOMM)Hmgu} Zbtb20^{tm1a(EUCOMM)Hmgu}	34351428

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Zbtb20^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Zbtb20^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Zbtb20^em1(IMPC)H	Indel	Mice
Zbtb20^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Zbtb20^em2(IMPC)H	Indel	Mice
Zbtb20^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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