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Gene: Dnajb9 MGI:1351618

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Registered for phenotyping at IMPC

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

Gene Summary

Name:
DnaJ heat shock protein family (Hsp40) member B9
Synonyms:
microvascular endothelial differentiation gene,  mDj7,  ERdj4,  Mdg1

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 Dnajb9 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dnajb9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Mahvash Disease
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... OMIM:262400
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased... OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased... OMIM:300425
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Autism, Susceptibility To, 8
Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased... OMIM:607373
Autism
Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased... OMIM:209850
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314811
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... OMIM:615158
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... ORPHA:324575
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Diabetes mellitus, Increased glucagon level, Cholelithiasis, Abnormal b... ORPHA:438274
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Polyphagia, Hypoglycemic seizures, Type I diab... ORPHA:276580
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia OMIM:232700
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Agitation, Fasti... ORPHA:276575
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Agitation, Fasting hy... ORPHA:276608
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren... OMIM:262700
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Agitation, Hy... ORPHA:276556
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice ORPHA:446
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder... ORPHA:35878
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... ORPHA:552
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, An... OMIM:619386
Chromosome 15Q11-Q13 Duplication Syndrome
Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased... OMIM:608636
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Decreased liver function, Death in chi... OMIM:246900
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Hemochromatosis, Neonatal
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... OMIM:231100
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Cir... ORPHA:369
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... OMIM:617872
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decr... ORPHA:453533
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased... OMIM:300495
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Abnormal head movements, Aggressive behavior ORPHA:382
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Mehmo Syndrome
Hypoglycemia, Decreased response to growth hormone stimulation test, Aggressive behavior, Delayed... OMIM:300148
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Hsd10 Mitochondrial Disease
Restlessness, Hypoglycemia, Aggressive behavior, Abnormal mitochondrial morphology, Agitation OMIM:300438
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71526
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Hepatic steatosis OMIM:620357
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Dysphagia OMIM:618958
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619048
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms, Jerky head movements ORPHA:98807
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperinsulinemia, Hyperglycemia, Polyphagia ORPHA:329249
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hypoglycemia OMIM:232400
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia OMIM:261750
Fragile X Syndrome
Macroorchidism, postpubertal, Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand... OMIM:300624
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis, Polyphagia OMIM:620195
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,... OMIM:613027
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hyperinsulinemia, Glycosuria, Pancreatic islet-cell ... ORPHA:263455
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase... OMIM:261680
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase OMIM:306000
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... ORPHA:79239
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Ketotic hypoglycemia ORPHA:26792
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d... OMIM:201400
Temple Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Recurr... ORPHA:254516
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hypoglycemia ORPHA:664
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Decreased liver function ORPHA:67048
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... OMIM:600955
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Hypo... ORPHA:2126
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Pituitary Stalk Interruption Syndrome
Death in infancy, Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Cryptorchidism, ... ORPHA:95496
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Developmental And Epileptic Encephalopathy 30
Death in infancy, Abnormal repetitive mannerisms OMIM:616341
Pyridoxine-Dependent Epilepsy
Restlessness, Hypoglycemia ORPHA:3006
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia OMIM:617862
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Death in infancy, Impulsivity, Aggressive behavior OMIM:605899
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly ORPHA:79237
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Agitation, Neonatal hypoglycemia, Death in infancy OMIM:619046
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Ja... OMIM:617049
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hypoglycemia ORPHA:2394
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchidism, Increased... OMIM:614736
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... OMIM:617600
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Neonatal hypoglycemia ORPHA:231140
Autosomal Dominant Spastic Ataxia Type 1
Jerky head movements, Dysphagia ORPHA:251282
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, El... OMIM:245400
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism OMIM:619150
Combined Oxidative Phosphorylation Deficiency 36
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... OMIM:617950
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cholestatic liver disease, Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements ORPHA:71518
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Death in infancy, Hypoglycemia, Microvesicular hepatic steatosis, ... OMIM:611126
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hypoglycemia ORPHA:156
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms OMIM:617830
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:201450
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperactivity, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic steatosis ORPHA:363400
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Hypoglycemia ORPHA:289504
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Jaundice, Hypoglycemia, Acute hepatic failure OMIM:616483
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Hepatic steatosis, Hypoketoti... OMIM:231530
Perlman Syndrome
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Cryptorchidism ORPHA:2849
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypogl... OMIM:600649
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pol... OMIM:604367
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Hypoglycemia, Decreased liver function OMIM:615160
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
N-Acetylaspartate Deficiency
Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic isl... OMIM:246200
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis... OMIM:616113
Autism, Susceptibility To, 3
Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased... OMIM:608049
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia OMIM:618406
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
2P21 Microdeletion Syndrome
Hypogonadism, Hypoglycemia ORPHA:163693
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, N... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, N... OMIM:618839
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Decreased liver function, Hepatic stea... ORPHA:42
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia ORPHA:48431
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:609425
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren... ORPHA:199296
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:212140
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Death in infancy, Hepatocellular necrosis, Periportal fibr... OMIM:201475
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic... OMIM:251880
Blue Diaper Syndrome
Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, In... ORPHA:94086
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Hypoglycemia, Insulin resistance, Hypogonadism, Attention deficit hyperactivity di... ORPHA:73272
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Neonatal death, Hepatic periportal necrosis, He... OMIM:231680
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Death in childhood OMIM:246450
Bachmann-Bupp Syndrome
Cryptorchidism, Hypoglycemia, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619075
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... OMIM:619927
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Huntington Disease-Like 1
Restlessness, Jerky head movements, Abnormal head movements ORPHA:157941
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... OMIM:202200
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617820
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... OMIM:618718
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino... ORPHA:2088
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... ORPHA:275864
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia OMIM:212138
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Intellectual Developmental Disorder, Autosomal Recessive 41
Splenomegaly, Hepatomegaly, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... OMIM:606407
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Pancreatic And Cerebellar Agenesis
Death in infancy, Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreat... OMIM:609069
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... ORPHA:2298
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Pancreatitis OMIM:606054
Progressive Supranuclear Palsy-Corticobasal Syndrome
Jerky head movements, Dysphagia ORPHA:240103
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Fasting hyperinsulinemia, Hypoglycemic seiz... ORPHA:71212
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Type II diabetes mellitus ORPHA:247815
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Hepatocellular adenoma, ... ORPHA:264580
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Hypothyroidism, Attention deficit hyperactivity disorder, Hypoglycemia ORPHA:397590
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hepatomegaly, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Bruxi... OMIM:618342
Hsd10 Disease, Infantile Type
Restlessness, Hypoglycemia, Paroxysmal bursts of laughter, Dysphagia ORPHA:391428
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Hypoglycemia, Pancreatitis OMIM:251000
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Decreased liver fu... ORPHA:26791
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Polyphagia, Increased serum leptin OMIM:617885
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Fasting hypoglycemia ORPHA:436174
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Cryptorchidism, Repetitive compulsive behavior, Compulsive behaviors, Attention de... ORPHA:352490
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Transketolase Deficiency
Hepatomegaly, Patent ductus arteriosus, Self-injurious behavior, Compulsive behaviors, Attention ... ORPHA:488618
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia, Severe temper tantrums, Aggressive behavior OMIM:617710
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... OMIM:600795
Episodic Ataxia Type 4
Abnormal head movements ORPHA:79136
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Self-injurious behavior, Attention deficit hyperactivity disorder, Comp... OMIM:617044
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... OMIM:614921
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Anorexia, Pituitary adeno... ORPHA:199299
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosi... ORPHA:348
Laron Syndrome
Abnormality of the endocrine system, Hypoglycemia, Delayed puberty ORPHA:633
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, El... OMIM:620300
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ovaries, Type II dia... ORPHA:3085
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Elevated hepatic transaminase, Glycosuria ORPHA:2089
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Anorexia, Agitation, Oral aversion, Hyperglycemia ORPHA:134
Silver-Russell Syndrome 1
Testicular seminoma, Decreased response to growth hormone stimulation test, Fasting hypoglycemia,... OMIM:180860
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferas... OMIM:256810
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Retinitis Pigmentosa
Hypogonadism, Abnormal testis morphology, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating androstenedion... ORPHA:90791
D-Glyceric Aciduria
Patent ductus arteriosus, Tongue thrusting, Hypoglycemia OMIM:220120
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ... ORPHA:90790
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... OMIM:617093
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Dysphagia OMIM:618253
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Hypoglycemia, Decrease... OMIM:615577
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia OMIM:210200
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hypothyroidism, Self-inju... ORPHA:449291
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis, Hypoketotic hypo... ORPHA:228305
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Fasting hypo... OMIM:232200
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Del... OMIM:232220
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ketotic hypoglycemia, Splenomegaly, Hepatocellular a... ORPHA:79240
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Jeavons Syndrome
Abnormal head movements ORPHA:139431
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cryptorchidism, Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, St... OMIM:618917
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Death in infancy, Elevated hepatic transaminase, Hypoglyce... OMIM:608836
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia OMIM:614702
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms OMIM:617393
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Repeti... ORPHA:66634
Reni Syndrome
Hypoglycemia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Hypothyroidism OMIM:617575
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Foxg1 Syndrome
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Stereotypical hand wringing, Bruxism ORPHA:561854
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h... ORPHA:79319
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia, Supernumerary nipple, Aggressive behavior, Abnormal temper tantrums, Abnormal repet... ORPHA:457279
48,Xxyy Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Azoospermia, Type II diabetes mellitus, Attention... ORPHA:10
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypoglycemia, Microvesicular hepatic steatosis, Splenomegaly, Mac... OMIM:619418
Childhood Absence Epilepsy
Punding, Jerky head movements, Attention deficit hyperactivity disorder ORPHA:64280
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Recurrent hypoglycemia, Hypothyroidism, Delayed puberty OMIM:616817
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypothyroidism, Hypoglycemia, Delayed puberty ORPHA:391408
Timothy Syndrome
Patent ductus arteriosus, Hypothyroidism, Hypoglycemia OMIM:601005
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Hyperactivity, Neonatal hypoglycemia ORPHA:457485
Baker-Gordon Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Death in infancy, Hypoglycemia, Microvesicular hepatic steatosis, ... OMIM:617156
Smith-Kingsmore Syndrome
Cryptorchidism, Hypoglycemia OMIM:616638
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Hypothyroidism, Decreased response... OMIM:618347
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Hyperglycemia, Hypoglycemia, Elevated hepatic transaminase OMIM:615453
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... OMIM:301029
X-Linked Acrogigantism
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Diabetes insipidus, Elevat... ORPHA:300373
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Precocious puberty, Cryptorchidism, Self-biting, Hypogonadism... ORPHA:3306
Cog8-Cdg
Elevated hepatic transaminase, Hypoglycemia ORPHA:95428
Glutaric Acidemia I
Hepatomegaly, Hypoglycemia OMIM:231670
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Insuli... ORPHA:769
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Hypoglycemia, Death in adolescence, Death in childhood, Neonatal death, Neonata... OMIM:619055
Cystinosis
Portal hypertension, Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Delayed pube... ORPHA:213
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... ORPHA:95613
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Hypothyroidism, Self-injurious behavior, Skin-picking, Abnorm... OMIM:600430
Lopes-Maciel-Rodan Syndrome
Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism OMIM:617435
2Q23.1 Microdeletion Syndrome
Hyperactivity, Cryptorchidism, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerism... ORPHA:228402
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620292
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cryptorchidism, Patent ductus arteriosus, Diabetes mellitus, Abnormal repetitive mannerisms ORPHA:500159
Smith-Magenis Syndrome
Hyperactivity, Abnormality of the thyroid gland, Self hugging, Head-banging, Onychotillomania, Ab... OMIM:182290
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea... OMIM:618329
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase con... OMIM:608779
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Death in childhood, Hyperinsulinemic hypoglycemia, Hep... OMIM:602579
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Hypoglycemi... ORPHA:85138
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsuline... ORPHA:528
Houge-Janssens Syndrome 1
Hypoglycemia OMIM:616355
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... ORPHA:91355
Christianson Syndrome
Death in early adulthood, Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia ORPHA:85278
Sotos Syndrome
Aggressive behavior, Cryptorchidism, Patent ductus arteriosus, Glucose intolerance, Attention def... OMIM:117550
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Cryptorchidism, Patent ductus a... OMIM:617053
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Fasting hypoglycemia, Hepatic failure, Hypoketotic h... ORPHA:159
Deeah Syndrome
Hepatomegaly, Death in infancy, Decreased response to growth hormone stimulation test, Anterior p... OMIM:619004
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Death in infancy, Hypoglycemia OMIM:620275
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Aggressive behavior, Precocious puberty, Hepatosplenomegaly, Cholecys... OMIM:301066
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated hepatic transaminase, Death in infancy, Hepatic failure, Hypoglycemia OMIM:619355
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... OMIM:617695
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Cho... OMIM:609015
Rauch-Steindl Syndrome
Hepatomegaly, Hyperactivity, Miscarriage, Aggressive behavior, Abnormal repetitive mannerisms, Ex... OMIM:619695
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal repetitive mannerisms, Inappropriate laughter, Stereotypical hand wringing OMIM:614104
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... ORPHA:85327
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Elevated hepatic transaminase, Anorexi... ORPHA:20
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... OMIM:618825
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi... ORPHA:79086
Xq28 (MECP2) duplication
Death in childhood, Abnormal repetitive mannerisms, Dysphagia DECIPHER:45
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Anorexia, Compulsive behaviors, Abnormal temper tantrums, Hyperglycem... ORPHA:3008
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated hepatic transaminase, Hypoglycemia, Hypoglycemic seizures, Dysphagia, Compensated hypoth... ORPHA:480864
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Patent ductus arteriosus, Hypoglycemia OMIM:607143
Shashi-Pena Syndrome
Patent ductus arteriosus, Hypoglycemia OMIM:617190
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Hypoglycemia, Prolonged neonatal jaundice OMIM:233600
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Cholestasis, Diffuse hepatic steatosis, Chronic hepatic failure, Hypoketotic ... ORPHA:746
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Abnormal mitochondrial shape, Hypoglycemia, Aggressi... ORPHA:17
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Hypoglycemia, Premature thelarche, Oral-pharyngeal dysphagia, Hypo... OMIM:616878
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Chole... OMIM:124000
Basilicata-Akhtar Syndrome
Precocious puberty, Neonatal hypoglycemia OMIM:301032
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal repetitive mannerisms ORPHA:280763
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Splenomegaly, P... OMIM:276700
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Salt craving, Hypoglycemia, Adrenal hypoplasia, Anorexia, P... ORPHA:95409
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Hepatic steatosis, Acute hepatic failure, Elevated hepatic transaminase ORPHA:99901
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements OMIM:245348
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Neonatal hypoglycemia ORPHA:445038
Potocki-Lupski Syndrome
Abnormal repetitive mannerisms, Hyperactivity, Hypothyroidism, Oral-pharyngeal dysphagia OMIM:610883
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Self-mutilation, Abnormal repetitive mannerisms, Decreased response to... ORPHA:457240
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin... OMIM:609152
Rett Syndrome
Agitation, Cholecystitis, Increased serum leptin, Abnormal repetitive mannerisms, Stereotypical h... ORPHA:778
Shigellosis
Hypoglycemia, Anorexia, Peritonitis, Cholestasis, Splenic abscess, Hepatic failure ORPHA:810
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Agitation, Abnormal repetitive mannerisms ORPHA:927
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogona... OMIM:203800
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Ogden Syndrome
Cryptorchidism, Abnormal head movements ORPHA:276432
Isolated Complex I Deficiency
Hepatomegaly, Diabetes mellitus, Hypoglycemia ORPHA:2609
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Bilateral cryptorchidism, Cryptorchidism, Hypothyroidism, Pica, Obsessive-compulsi... OMIM:617796
Huntington Disease-Like 3
Abnormal head movements ORPHA:157946
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Renal tubular epithelial necrosis, Hepatic calcification, Hepatic failure, Hypoketo... ORPHA:157
Cerebral Visual Impairment
Attention deficit hyperactivity disorder, Neonatal hypoglycemia ORPHA:447788
Fanconi-Bickel Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... OMIM:227810
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder OMIM:617808
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased ser... OMIM:608594
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... OMIM:151660
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Jaundice, Patent ductus arteriosus, Dysphagia, Neonatal death, Neonatal hypogly... OMIM:617248
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Restlessness, Aggressive behavior, Ab... ORPHA:247585
Silver-Russell Syndrome
Precocious puberty, Cryptorchidism, Insulin resistance, Recurrent hypoglycemia, Premature adrenar... ORPHA:813
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Hepatosplenomegaly ORPHA:397612
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Chronic pancreatitis, Delayed puberty, Hepa... OMIM:232240
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypoglycemia, Hypothyroidism, Delayed puberty, Hepatocellular adenoma, Hypoglycemic... ORPHA:79259
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypoglycemia, Chronic pancreatitis, Cryptorchidism, Adrenal insufficiency OMIM:307030
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Patent ductus arteriosus, Hypothyroidism, Hypoglycemia OMIM:618005
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Elevated circulating luteinizing hor... ORPHA:289548
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Hyperactivity, Abnormal repetitive mannerisms OMIM:617751
Blepharophimosis-Impaired Intellectual Development Syndrome
Cryptorchidism, Patent ductus arteriosus, Attention deficit hyperactivity disorder, Abnormal repe... OMIM:619293
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Insulin resistance, Hyperinsulinemia, ... OMIM:613327
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal tubular epithelial necrosis, Hepatic calcification, Hepatic failure, Hepatic ... ORPHA:228308
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... ORPHA:168558
Lamb-Shaffer Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Abnormal temper tantrums ORPHA:530983
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Neonatal hypoglycemia ORPHA:565624
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Abnormal repetitive mannerisms OMIM:618067
Developmental And Epileptic Encephalopathy 6B
Abnormal repetitive mannerisms OMIM:619317
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv... OMIM:300986
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... ORPHA:293978
Niemann-Pick Disease, Type C2
Hepatomegaly, Death in infancy, Splenomegaly, Jaundice, Dysphagia, Death in childhood, Prolonged ... OMIM:607625
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia ORPHA:208447
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:618430
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620242
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Hypoglycemia OMIM:615751
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Central hypothyroidism, Stereotypical b... OMIM:300912
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Hypoketotic hypoglycemia ORPHA:26793
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Perlman Syndrome
Cryptorchidism, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:267000
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Patent ductus arteriosus, Self-injurious behavior, Compulsive behaviors, Dys... OMIM:617061
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Abnormal repetitive mannerisms OMIM:619877
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Insuli... ORPHA:96182
Cri-Du-Chat Syndrome
Hyperactivity, Aggressive behavior, Cryptorchidism, Abnormal repetitive mannerisms, Self-mutilati... OMIM:123450
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Cryptorchidism, Hypoglycemia OMIM:620224
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Splenome... OMIM:269700
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Rec... OMIM:619580
Alazami Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... ORPHA:319671
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Hypoglycemia, Decreased response to growth hormone stimulation test OMIM:616007
Coffin-Siris Syndrome 7
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors OMIM:618027
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Patent ductus arteriosus, Hypoglycemic seizures, Self-injurio... OMIM:616364
Hereditary Fructose Intolerance
Hepatomegaly, Jaundice, Chronic hepatic failure, Reactive hypoglycemia ORPHA:469
3-Methylglutaconic Aciduria, Type Viib
Hepatic steatosis, Neonatal hypoglycemia OMIM:616271
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Abnormal repetitive mannerisms OMIM:619092
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:610042
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal repetitive mannerisms OMIM:613443
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Hepat... OMIM:229600
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female... ORPHA:90794
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:411986
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Hypoketotic hypoglycemia OMIM:610768
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolera... OMIM:608612
Cholera
Miscarriage, Hypoglycemia ORPHA:173
Wars2-Related Combined Oxidative Phosphorylation Defect
Dysphagia, Neonatal hypoglycemia, Aggressive behavior ORPHA:572798
Acute Liver Failure
Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellula... ORPHA:90062
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Cryptorchidism, Repetitive compulsive behavior, Bruxism, Dysphagia, Abnormal repetitive mannerisms OMIM:300260
Leigh Syndrome
Hepatic failure, Hypoglycemia, Dysphagia ORPHA:506
Joubert Syndrome 6
Abnormal repetitive mannerisms, Bile duct proliferation, Hepatic fibrosis OMIM:610688
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Death in infancy, Hypoglycemia, Splenomegaly, Hepatic failure OMIM:252010
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism OMIM:618004
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Cryptorchidism, Abnormal repetitive mannerisms, Attention deficit hyperactivi... OMIM:620073
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Precocious puberty, Attention deficit hyperactivity disorder, D... OMIM:619312
Leprechaunism
Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyp... ORPHA:508
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Aplasia/Hypoplasia of t... ORPHA:1727
4Q21 Microdeletion Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:238750
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms OMIM:301094
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics OMIM:619725
Ritscher-Schinzel Syndrome 4
Impulsivity, Aggressive behavior, Cryptorchidism, Dysphagia, Abnormal repetitive mannerisms OMIM:619435
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior OMIM:618914
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia OMIM:210210
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal repetitive mannerisms, Dysphagia ORPHA:79264
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cryptorchidism, Head-banging, Attention deficit hyperactivity disorder, Frequent temper tantrums,... OMIM:619103
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Cryptorchidism, Pancreatic hyperplasia, Adrenocortical c... OMIM:130650
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Death in infancy, Hypoglycemia, Supernumerary nipple, Cryptorchidism, Splenomegaly,... ORPHA:373
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia, Dysphagia ORPHA:25
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:424
Alg12-Cdg
Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Cryptorchidism, Pate... ORPHA:79324
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Hypoglycemia, Portal hypertension, Cholestasis, Bile duct prolifer... OMIM:613658
Smith-Magenis Syndrome
Precocious puberty, Hypothyroidism, Self-injurious behavior, Attention deficit hyperactivity diso... ORPHA:819
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Hypoglycemia, Cryptorchidism, Splenomegaly, Adrenocortic... ORPHA:116
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... OMIM:176270
Holoprosencephaly
Diabetes mellitus, Diabetes insipidus, Hypoglycemia, Cryptorchidism, Abnormality of the spleen, A... ORPHA:2162
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors OMIM:613174
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Obsessive-compulsive trait, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:168491
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Cryptorchidism, Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Bruxism OMIM:616351
Snijders Blok-Campeau Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618205
Mandibuloacral Dysplasia
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Thyroid carcinoma, Hashimoto thyroiditis, Hypoglycemia ORPHA:109
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Patent ductus arteriosus, Jerky head movements ORPHA:369837
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Abnormal repetitive mannerisms, Supernumerary nipple, Overfriendliness OMIM:616579
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Portal fibrosis OMIM:207800
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia ORPHA:35173
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Cryptorchidism, Attention deficit hyperactivity disorder, Death in childhood, Abnor... OMIM:619005
Histiocytoid Cardiomyopathy
Hepatomegaly, Hypoglycemia, Polycystic ovaries ORPHA:137675
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... OMIM:248370
Sandifer Syndrome
Abnormal head movements ORPHA:71272
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Abnormal repetitive mannerisms OMIM:617807
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoglycemia OMIM:614501
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619121
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Hypoglycemia, Anorexia, Aggressive behavior, Orchitis, Jaundice, P... ORPHA:99826
Atelis Syndrome 2
Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormone concentration, Hyperin... OMIM:620185
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Hypoglycemia ORPHA:79282
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
3P25.3 Microdeletion Syndrome
Patent ductus arteriosus, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:435638
Bainbridge-Ropers Syndrome
Death in infancy, Supernumerary nipple, Precocious puberty, Cryptorchidism, Self-injurious behavi... OMIM:615485
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Abnormal repetitive mannerisms, Dysphagia OMIM:617802
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Abnormal repetitive mannerisms OMIM:619428
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal repetitive mannerisms, S... ORPHA:1001
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... ORPHA:177907
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Death in infancy, Hypoglycemia, Microvesicular hepatic steatosis, Hyperglycemia, Dysphagia, Incre... OMIM:220111
Kabuki Syndrome 2
Neonatal hypoglycemia OMIM:300867
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:98784
Kleefstra Syndrome 1
Cryptorchidism, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:610253
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Neurooculorenal Syndrome
Ectopic posterior pituitary, Decreased circulating cortisol level, Cryptorchidism, Decreased circ... OMIM:620305
Menkes Disease
Hypoglycemia, Prolonged neonatal jaundice ORPHA:565
Phelan-Mcdermid Syndrome
Aggressive behavior, Patent ductus arteriosus, Tongue thrusting, Bruxism, Abnormal repetitive man... OMIM:606232
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal rep... ORPHA:476126
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Pancreatic endocrine tumor, Pituitary adenoma, R... ORPHA:805
Den Hoed-De Boer-Voisin Syndrome
Death in adolescence, Agitation, Dysphagia, Abnormal repetitive mannerisms, Stereotypical hand wr... OMIM:619229
Kleefstra Syndrome
Supernumerary nipple, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Abnormal repe... ORPHA:261494
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Chromosome 15Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors OMIM:615656
Cerebral Creatine Deficiency Syndrome 1
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:300352
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Congenital Disorder Of Glycosylation, Type Iia
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Aggressive behavior OMIM:212066
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms ORPHA:261144
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Restrictive behavior, Hyperactivity, Impulsivity, Aggressive behav... OMIM:619475
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo... ORPHA:273
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Abnormal repet... ORPHA:468678
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Abnormal repetitive mannerisms, Inappropriate laughter OMIM:615802
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms OMIM:616393
Megalocornea-Intellectual Disability Syndrome
Abnormal repetitive mannerisms, Hypothyroidism ORPHA:2479
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Aggressive behavior, Cryptorchidism, Patent ductus arteriosus, Poly... ORPHA:96121
Proximal 16P11.2 Microdeletion Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:261197
Rett Syndrome, Congenital Variant
Tongue thrusting, Abnormal repetitive mannerisms, Bruxism OMIM:613454
Wiedemann-Steiner Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Aggressive behavior, Dyspha... ORPHA:319182
Pitt-Hopkins Syndrome
Cryptorchidism, Self-injurious behavior, Abnormal repetitive mannerisms, Supernumerary nipple OMIM:610954
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Cryptorchidism, Patent ductus arteriosus, Posterior pituitary hypoplasia, Attention deficit hyper... ORPHA:464311
1P36 Deletion Syndrome
Abnormality of the spleen, Cryptorchidism, Hypothyroidism, Abnormal repetitive mannerisms, Polyph... ORPHA:1606
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Anterior pituitary hypoplasia, Cryptorchidism, Patent ductus arteriosus, Abnormal ... ORPHA:464306
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Head-banging, Self-injurious behavior, Attention deficit hyperactivity disorder, Frequent temper ... OMIM:619575
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:457351
Atypical Werner Syndrome
Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus... ORPHA:79474
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Cryptorchidism, Abnormal re... OMIM:615873
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Cryptorchidism, Self-injurious behavior, Compulsive behaviors, Frequent temper tan... OMIM:619512
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Glycosuria ORPHA:3337
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Hyperparathyroidism, Cryptorchidism, Abnormal repetitive mannerisms, Abnormal c... ORPHA:534
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Hashimoto thyroiditis, High urinary gonadotropin level, Increased ... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Hashimoto thyroiditis, High urinary gonadotropin level, Increased ... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Hashimoto thyroiditis, High urinary gonadotropin level, Increased ... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Hashimoto thyroiditis, High urinary gonadotropin level, Increased ... ORPHA:99226
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal repetitive mannerisms ORPHA:300570
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Abnormal repetitive mannerisms ORPHA:508533
Mucopolysaccharidosis Type 2
Hepatomegaly, Hyperactivity, Impulsivity, Aggressive behavior, Splenomegaly, Abnormal temper tant... ORPHA:580
Ogden Syndrome
Maternal diabetes, Cryptorchidism, Jaundice, Microvesicular hepatic steatosis, Patent ductus arte... OMIM:300855
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:496641
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Repetitive compulsive behavior, Abnormal repetitive mannerisms, Self-mutilation, Self-biting ORPHA:522077
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Cryptorchidism, Abnormal repetitive mannerisms OMIM:301040
Kinsship Syndrome
Death in infancy, Abnormal repetitive mannerisms, Bruxism OMIM:619297
Holoprosencephaly 1
Hypoglycemia, Diabetes insipidus, Adrenal hypoplasia OMIM:236100
Costello Syndrome
Hypoglycemia OMIM:218040
Van Esch-O'Driscoll Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Hypogonadotropic hypogo... OMIM:301030
Developmental And Epileptic Encephalopathy 2
Abnormal repetitive mannerisms OMIM:300672
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Neonatal hypoglycemia ORPHA:457359
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia ORPHA:447997
Primrose Syndrome
Restlessness, Diabetes mellitus, Hypergonadotropic hypogonadism, Aggressive behavior, Bilateral c... OMIM:259050
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms, Exocrine pancreatic insufficiency ORPHA:508498
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Abnormal repetitive mannerisms, Supernumerary nipple OMIM:618653
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353281
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cryptorchidism, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:468631
Sotos Syndrome
Aggressive behavior, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Attention defici... ORPHA:821
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Repetitive compulsive behavior, Stereotypical body rocking, Abnormal repetitive mannerisms, Pinea... ORPHA:513456
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Cryptorchidism, Patent ductus arteriosus, Abnormal repetitive mannerisms OMIM:616682
Norrie Disease
Diabetes mellitus, Cryptorchidism, Self-injurious behavior, Attention deficit hyperactivity disor... ORPHA:649
Developmental And Epileptic Encephalopathy 100
Abnormal repetitive mannerisms, Dysphagia OMIM:619777
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
Hypotonia, Ataxia, And Delayed Development Syndrome
Cryptorchidism, Abnormal repetitive mannerisms, Dysphagia OMIM:617330
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Cryptorchidism, Hyperactivity, Abnormal repetitive mannerisms OMIM:309590
Arboleda-Tham Syndrome
Bilateral cryptorchidism, Patent ductus arteriosus, Abnormal repetitive mannerisms, Dysphagia OMIM:616268
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induced behavior, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induced behavior, ... ORPHA:353277
Nmda Receptor Encephalitis
Ovarian teratoma, Neoplasm of the thymus, Hypersexuality, Agitation, Testicular teratoma, Abnorma... ORPHA:217253
Wolf-Hirschhorn Syndrome
Accessory spleen, Precocious puberty, Cryptorchidism, Biliary tract abnormality, Abnormal repetit... OMIM:194190
Coffin-Siris Syndrome 12
Elevated hepatic transaminase, Cryptorchidism, Abnormal repetitive mannerisms, Hypothyroidism OMIM:619325
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:614756
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Attention deficit hyperactivity disor... OMIM:619522
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Patent ductus arteriosus, Abnormal repetitive mannerisms OMIM:612474
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Abnormal repetitive mannerisms OMIM:301044
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Pmm2-Cdg
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Elevated circulating growth hormone... ORPHA:79318
Mowat-Wilson Syndrome
Asplenia, Cryptorchidism, Patent ductus arteriosus, Bruxism, Hydrocele testis, Dysphagia, Abnorma... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Cryptorchidism, Patent ductus arteriosus, Bruxism, Hydrocele testis, Dysphagia, Abnorma... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Cryptorchidism, Bruxism, Hydrocele testis, Dysphagia, Abnormal repetitive mannerisms ORPHA:261537

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 Dnajb9

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 Dnajb9.

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

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Dnajb9em1(IMPC)Wtsi PMC7263671

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
Dnajb9tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dnajb9tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dnajb9em1(IMPC)Wtsi Exon Deletion Mice
Dnajb9tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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