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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Increased hepatic glycogen ... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced ... OMIM:262400
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia ORPHA:314802
Autism, Susceptibility To, X-Linked 3
Increased serum serotonin, Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Increased serum serotonin, Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Autism, Susceptibility To, 8
Increased serum serotonin, Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Autism
Increased serum serotonin, Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia ORPHA:314811
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin ... ORPHA:324575
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Neoplasm of the pancreas, Increas... ORPHA:438274
Glycogen Storage Disease Vi
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Increased he... OMIM:232700
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276580
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... ORPHA:171706
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276575
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Excessive in... ORPHA:276556
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidi... OMIM:262700
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoth... ORPHA:99886
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... ORPHA:552
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, F... ORPHA:35878
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, A... OMIM:620211
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adrenal insufficienc... OMIM:619386
Chromosome 15Q11-Q13 Duplication Syndrome
Increased serum serotonin, Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608636
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:246900
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decreased testi... ORPHA:453533
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... ORPHA:369
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Pr... OMIM:617872
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Cirrhosis,... OMIM:231100
Endocardial Fibroelastosis
Anterior hypopituitarism, Cryptorchidism, Hypoglycemia ORPHA:2022
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Abnormal head movements, Hyperactivity ORPHA:382
Hsd10 Mitochondrial Disease
Hypoglycemia, Aggressive behavior, Abnormal mitochondrial morphology, Restlessness, Agitation OMIM:300438
Autism, Susceptibility To, X-Linked 2
Increased serum serotonin, Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Aggressiv... OMIM:300148
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Primary Dystonia, Dyt13 Type
Motor stereotypy, Jerky head movements ORPHA:98807
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recurrent hypoglycemia OMIM:620357
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, E... OMIM:619048
Combined Oxidative Phosphorylation Deficiency 47
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cryptorchidism, Hepatomega... OMIM:618958
Glycogen Storage Disease Iii
Hepatomegaly, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglyc... OMIM:232400
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Fragile X Syndrome
Abnormal head movements, Recurrent hand flapping, Macroorchidism, postpubertal, Hyperactivity, Se... OMIM:300624
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Hypoglycemia, Increased hepatic glycogen content OMIM:261750
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, Agitation OMIM:617171
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypoketoti... ORPHA:263455
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi... OMIM:600955
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Hypoglycemia OMIM:620137
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618709
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy OMIM:617270
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Elevated circul... OMIM:261680
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hypoglycemia OMIM:306000
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis ORPHA:26792
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease... ORPHA:95619
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cryptorch... ORPHA:79239
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena... OMIM:201400
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Neonatal hypoglycemia, Delayed puberty, Anterior hypopituitarism ORPHA:631
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly, Hypoglycemia ORPHA:664
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Death in infancy OMIM:616341
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Hypoglycemia ORPHA:67048
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Abnormal peritoneum morphology, Hypo... ORPHA:2126
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Pyridoxine-Dependent Epilepsy
Restlessness, Hypoglycemia ORPHA:3006
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,... OMIM:201910
Autosomal Dominant Spastic Ataxia Type 1
Dysphagia, Jerky head movements ORPHA:251282
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Motor stereotypy, Dysphagia OMIM:617862
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Glycine Encephalopathy 1
Death in infancy, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoglycemia, Cryptorchidism, Death in infancy, Hypothyroidism, Dela... ORPHA:95496
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Death in infancy, Neonatal hypoglycemia, Splenomegaly, Agitation OMIM:619046
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism ORPHA:79237
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia ORPHA:2394
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Bruxism, Inappropriate laughter, Motor stereotypy, Aggressive behavior OMIM:619150
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH le... OMIM:614736
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Neonatal hypogl... OMIM:617600
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619470
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Developmental And Epileptic Encephalopathy 58
Motor stereotypy OMIM:617830
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements ORPHA:71518
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Death in childhood, ... OMIM:245400
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Dea... OMIM:617049
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Hypoketotic hypoglycemia, Cholestatic liver disease ORPHA:5
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Death in ... OMIM:611126
Combined Oxidative Phosphorylation Deficiency 36
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:617950
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia ORPHA:156
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent... OMIM:600649
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Combined Malonic And Methylmalonic Acidemia
Elevated circulating hepatic transaminase concentration, Hypoglycemia ORPHA:289504
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
N-Acetylaspartate Deficiency
Motor stereotypy, Self-mutilation OMIM:614063
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Jaundice, Elevated circulating hepatic transaminase concentration, Hypogly... OMIM:616483
Zollinger-Ellison Syndrome
Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi... ORPHA:913
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Decreased ... ORPHA:199296
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy OMIM:617820
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia OMIM:615160
Congenital Disorder Of Glycosylation, Type Iiaa
Nodular regenerative hyperplasia of liver, Hepatic fibrosis, Biliary cirrhosis, Hepatic failure, ... OMIM:620454
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypoglycemia, Dysphagia, Increased circulating prolactin concentration ORPHA:35708
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Donohue Syndrome
Precocious puberty, Hepatic fibrosis, Postprandial hyperglycemia, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Autism, Susceptibility To, 3
Increased serum serotonin, Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608049
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:609425
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Hypogly... OMIM:201450
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Hypogly... OMIM:231530
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Hypoglycemia, Death in infancy, Neonatal death, Decreased circulating c... OMIM:618835
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... ORPHA:42
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Hypoglycemia, Death in infancy, Neonatal death, Decreased circulating c... OMIM:618839
2P21 Microdeletion Syndrome
Hypogonadism, Hypoglycemia ORPHA:163693
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Decreased testicular size, Hypogo... OMIM:616113
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Carnitine Deficiency, Systemic Primary
Recurrent hypoglycemia, Decreased carnitine level in liver, Elevated circulating aspartate aminot... OMIM:212140
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia, Bilateral cryptorchidism, Increased circulating ACTH level,... OMIM:607398
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase concentration, Elev... ORPHA:94086
Bachmann-Bupp Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Cryptorchidism, Hypoglycemia OMIM:619075
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia ORPHA:48431
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Hypogonadism, Attention deficit hyperactivity disorder, Hyperac... ORPHA:73272
Huntington Disease-Like 1
Restlessness, Abnormal head movements, Jerky head movements ORPHA:157941
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter OMIM:618718
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hyperactivity, Hepatomegaly ORPHA:363400
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Collectionism, ... ORPHA:275864
Intellectual Developmental Disorder, Autosomal Recessive 41
Hepatomegaly, Self-injurious behavior, Motor stereotypy, Splenomegaly OMIM:615637
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Type II diabetes mellitus ORPHA:247815
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elevated circulating aspar... OMIM:605911
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hypoglycemia, Hepatic periportal necrosis, Hepatic steatosis, Neonatal death, Hepatom... OMIM:231680
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH level, Abnor... OMIM:202200
Maple Syrup Urine Disease, Type Ia
Pancreatitis, Hypoglycemia OMIM:248600
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Abnormal hepatic glycogen storage, Eleva... ORPHA:2088
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hepatic steatosis, Death in infancy, Nonketotic hyp... OMIM:201475
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, Elevated circulati... OMIM:251880
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Hepatom... OMIM:212138
Progressive Supranuclear Palsy-Corticobasal Syndrome
Dysphagia, Jerky head movements ORPHA:240103
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Bruxism, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Hepatomega... OMIM:618342
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Increased circulating free T4 ... OMIM:275000
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Polyphagia, Neonatal hypoglycemia, Hypergo... OMIM:606407
Propionic Acidemia
Hepatomegaly, Pancreatitis, Hypoglycemia OMIM:606054
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Death in infancy, Diabetes mellitus, Pancreat... OMIM:609069
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Abnormal circulating leptin co... ORPHA:2298
Silver-Russell Syndrome Due To A Point Mutation
Attention deficit hyperactivity disorder, Hypothyroidism, Cryptorchidism, Hypoglycemia ORPHA:397590
Hsd10 Disease, Infantile Type
Paroxysmal bursts of laughter, Restlessness, Dysphagia, Hypoglycemia ORPHA:391428
Autism Spectrum Disorder Due To Auts2 Deficiency
Cryptorchidism, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperac... ORPHA:352490
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Combined Oxidative Phosphorylation Deficiency 59
Attention deficit hyperactivity disorder, Cholelithiasis, Ketotic hypoglycemia OMIM:620646
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Motor stereotypy OMIM:619690
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... ORPHA:264580
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor st... OMIM:617044
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Hepatomegaly, ... OMIM:616026
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Disinhibition, Aggressive behavior, Restlessness, Motor stereotypy OMIM:600795
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Hepatitis, Graves disease, Hypoglycemia, Adrenocorti... ORPHA:199299
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Aggressive behavior, Severe temper tantrums, Hypoglycemia OMIM:617710
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Fasting hypoglycemia ORPHA:436174
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Episodic Ataxia Type 4
Abnormal head movements ORPHA:79136
Transketolase Deficiency
Self-injurious behavior, Type I diabetes mellitus, Attention deficit hyperactivity disorder, Hepa... ORPHA:488618
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Fasting hyperinsulinemia, Acute hepatic ... ORPHA:71212
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Oral aversion, Anorexia, Hepatomegaly, Agitation ORPHA:134
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic periportal necrosi... ORPHA:26791
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Elevated circulating hepatic transaminase conce... ORPHA:2089
Fructose-1,6-Bisphosphatase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Fasting... ORPHA:348
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hyp... OMIM:614921
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Death in infancy, Ne... OMIM:620300
Laron Syndrome
Abnormality of the endocrine system, Delayed puberty, Hypoglycemia ORPHA:633
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Pancreatitis, Hypoglycemia OMIM:251000
Long-Olsen-Distelmaier Syndrome
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:620609
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia OMIM:240200
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic fibrosis, Intrahepatic cholestasis, Hypoglycemia, Decreased liver function, Elevated circ... OMIM:617093
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Dysphagia, Disinhibition OMIM:612069
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Epilepsy With Eyelid Myoclonia
Abnormal head movements ORPHA:139431
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Testicular seminoma, Fasting hypoglycemia,... OMIM:180860
Mitochondrial Complex I Deficiency, Nuclear Type 33
Dysphagia, Hypoglycemia OMIM:618253
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abnormal re... OMIM:615577
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Cryptorchidism, Stereotypical hand wringing, Compulsive behaviors, Motor... OMIM:618917
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Aggressive behavior, ... ORPHA:449291
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Micronodular cirrhosis, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Recu... OMIM:256810
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia OMIM:210200
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemi... ORPHA:228305
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
D-Glyceric Aciduria
Tongue thrusting, Patent ductus arteriosus, Hypoglycemia OMIM:220120
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Pancreatitis, Delayed pube... OMIM:232200
48,Xxyy Syndrome
Decreased testicular size, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Attention defi... ORPHA:10
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Hypoglycemia, Abnormal circulating androgen level, Increase... ORPHA:90790
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy OMIM:617393
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Foxg1 Syndrome
Bruxism, Paroxysmal bursts of laughter, Motor stereotypy, Stereotypical hand wringing ORPHA:561854
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia OMIM:614702
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elevated circulating aspar... OMIM:608836
Glycogen Storage Disease Ib
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Pancreatitis... OMIM:232220
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Reni Syndrome
Hypoglycemia, Hypogonadism, Adrenal insufficiency, Cryptorchidism, Hypothyroidism OMIM:617575
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Hypoglycemia, Supernumerary nipple, Aggressive behavior, Motor stereotypy ORPHA:457279
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Jerky head movements ORPHA:64280
Immunodeficiency 10
Hepatomegaly, Splenomegaly, Hypoglycemia OMIM:612783
Timothy Syndrome
Hypothyroidism, Patent ductus arteriosus, Hypoglycemia OMIM:601005
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia, Cryptorchidism, Hyperactivity ORPHA:457485
Baker-Gordon Syndrome
Self-injurious behavior, Motor stereotypy OMIM:618218
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypothyroidism, Delayed puberty, Cryptorchidism, Recurrent hypoglycemia OMIM:616817
Shukla-Vernon Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity OMIM:301029
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Hypogonadism, Cryptorchidism, Aggressive behavior, Hyperactivity, Self-biting... ORPHA:3306
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Hypoglycemia, Exocrine pancreatic insuf... OMIM:619418
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
Dilated Cardiomyopathy With Ataxia
Elevated circulating hepatic transaminase concentration, Bilateral cryptorchidism, Microvesicular... ORPHA:66634
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Delayed puberty, Hypoglycemia, Diabetes mellitus ORPHA:391408
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypoglycemia, Decreased response to growth hormone stimulation test,... ORPHA:226307
Smith-Kingsmore Syndrome
Cryptorchidism, Hypoglycemia OMIM:616638
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent ductus arteriosus, Motor stereotypy, Cryptorchidism, Diabetes mellitus ORPHA:500159
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Cryptorchidism, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity... ORPHA:228402
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Paroxysmal bursts of laughter, Hypothyroid... OMIM:618347
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Hyperglycemia, Elevated circulating hepatic transaminase concentration, Hy... OMIM:615453
Glutaric Acidemia I
Hepatomegaly, Hypoglycemia OMIM:231670
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:620292
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Stereotypical hand wringing, Skin-picking, Aggressive behavior, Hypothyr... OMIM:600430
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cholestas... OMIM:617156
Cog8-Cdg
Elevated circulating hepatic transaminase concentration, Hypoglycemia ORPHA:95428
Cystinosis
Type I diabetes mellitus, Polydipsia, Portal hypertension, Hypothyroidism, Delayed puberty, Nephr... ORPHA:213
Lopes-Maciel-Rodan Syndrome
Motor stereotypy, Bruxism, Dysphagia, Agitation OMIM:617435
Rabson-Mendenhall Syndrome
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Polydipsia, Insulin-resistant... ORPHA:769
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Death in childhood, Death in infancy, Neonatal death, Death in adolescence, Neonata... OMIM:619055
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618906
Congenital Disorder Of Glycosylation, Type Iie
Hypoglycemia, Decreased liver function, Elevated circulating aspartate aminotransferase concentra... OMIM:608779
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
Christianson Syndrome
Inappropriate laughter, Death in early adulthood, Motor stereotypy, Dysphagia ORPHA:85278
Combined Oxidative Phosphorylation Deficiency 37
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:618329
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Death in childhood, ... OMIM:246450
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Mirage Syndrome
Hypoglycemia, Decreased testicular size, Adrenal insufficiency, Cryptorchidism, Adrenal hypoplasi... OMIM:617053
Houge-Janssens Syndrome 1
Hypoglycemia OMIM:616355
Deeah Syndrome
Decreased response to growth hormone stimulation test, Panhypopituitarism, Exocrine pancreatic in... OMIM:619004
Sheehan Syndrome
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:91355
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemi... ORPHA:159
Smith-Magenis Syndrome
Head-banging, Abnormality of the thyroid gland, Onychotillomania, Self-mutilation, Hyperactivity,... OMIM:182290
Sotos Syndrome
Glucose intolerance, Cryptorchidism, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:117550
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Decreased liver function, Hyperglycemia, Agitation, Hyperactivity, Impulsivity OMIM:620423
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Death in infancy, Hypoglycemia OMIM:620275
Addison Disease
Thymoma, Type I diabetes mellitus, Androgen insufficiency, Hypoglycemia, Adrenal calcification, I... ORPHA:85138
Intellectual Developmental Disorder, Autosomal Dominant 7
Inappropriate laughter, Motor stereotypy, Hyperactivity, Stereotypical hand wringing OMIM:614104
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia OMIM:617695
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Death in infancy, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypog... OMIM:619355
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Aggressive b... OMIM:301066
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Decreased serum insulin-like growth factor 1, Elevated circulating growth ho... ORPHA:85327
Rauch-Steindl Syndrome
Exocrine pancreatic insufficiency, Aggressive behavior, Hyperactivity, Hepatomegaly, Motor stereo... OMIM:619695
Xq28 (MECP2) duplication
Motor stereotypy, Dysphagia, Death in childhood DECIPHER:45
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Obsessive-compul... OMIM:618825
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia, Lipid accumulati... ORPHA:20
Mitochondrial Trifunctional Protein Deficiency 1
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hypoketotic hypoglyce... OMIM:609015
Aica-Ribosiduria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Hypoglycemia, Hyperglycemia, Recurrent hand flapping, Anorexia, Hepatom... ORPHA:3008
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Compensated hypothyroidism... ORPHA:480864
Congenital Disorder Of Glycosylation, Type Ig
Patent ductus arteriosus, Cryptorchidism, Hypoglycemia OMIM:607143
Shashi-Pena Syndrome
Patent ductus arteriosus, Hypoglycemia OMIM:617190
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy ORPHA:280763
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Prolonged neonatal jaundice, Hypoglycemia OMIM:233600
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Hypoglycemia OMIM:251110
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Elevated circulating hepatic transaminase concentration, Hypoglycem... ORPHA:17
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements OMIM:245348
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste... ORPHA:313892
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Hypoketotic hypoglycemia, Chronic hepatic failure, Hypoparathyroidism, Diffuse hepat... ORPHA:746
Potocki-Lupski Syndrome
Hypothyroidism, Motor stereotypy, Hyperactivity, Oral-pharyngeal dysphagia OMIM:610883
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated circulating hepatic transaminase concentration, Nonketotic hypogl... ORPHA:99901
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Recur... OMIM:124000
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Oral-pharyngeal dysphagia,... OMIM:616878
Basilicata-Akhtar Syndrome
Precocious puberty, Neonatal hypoglycemia OMIM:301032
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Rett Syndrome
Increased serum leptin, Bruxism, Cholecystitis, Stereotypical hand wringing, Motor stereotypy, Ag... ORPHA:778
Ogden Syndrome
Abnormal head movements, Cryptorchidism ORPHA:276432
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Neonatal hypoglycemia, Hepatic steatosis, Elevated circulating hepatic transamina... ORPHA:445038
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Motor stereotypy, Agitation ORPHA:927
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Motor stereotyp... ORPHA:457240
Huntington Disease-Like 3
Abnormal head movements ORPHA:157946
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... ORPHA:90695
Acute Adrenal Insufficiency
Androgen insufficiency, Hypoglycemia, Increased circulating ACTH level, Primary adrenal insuffici... ORPHA:95409
Tyrosinemia, Type I
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hep... OMIM:276700
Isolated Complex I Deficiency
Hepatomegaly, Diabetes mellitus, Hypoglycemia ORPHA:2609
Shigellosis
Hepatic failure, Hypoglycemia, Cholestasis, Peritonitis, Splenic abscess, Anorexia ORPHA:810
Intellectual Developmental Disorder, Autosomal Dominant 52
Bilateral cryptorchidism, Obsessive-compulsive trait, Cryptorchidism, Hypothyroidism, Hyperactivi... OMIM:617796
47,Xyy Syndrome
Azoospermia, Cryptorchidism, Attention deficit hyperactivity disorder, Hyperactivity, Increased s... ORPHA:8
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone level, Increased circulating f... OMIM:609152
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617808
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Glycosuria, Elevated circulating aspartate ... OMIM:227810
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620502
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy, Cryptorchidism OMIM:618504
Cerebral Visual Impairment
Attention deficit hyperactivity disorder, Neonatal hypoglycemia ORPHA:447788
Citrullinemia Type Ii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Delayed menarche, Abno... ORPHA:247585
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Hepatosplenomegaly, Motor stereotypy ORPHA:397612
Glycogen Storage Disease Ic
Hypoglycemia, Chronic pancreatitis, Hepatoblastoma, Delayed puberty, Hepatomegaly, Hepatocellular... OMIM:232240
Silver-Russell Syndrome
Premature adrenarche, Precocious puberty, Insulin resistance, Recurrent hypoglycemia, Decreased t... ORPHA:813
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Motor stereotypy, Hyperactivity OMIM:617751
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Neonatal death, Jaundice, Neonatal hypoglycemia, Dysphagia, Patent ductus arter... OMIM:617248
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Recurrent hypoglycemia, Decreased response t... ORPHA:293978
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy OMIM:619317
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypoglycemia, Hepatic steatosis, Increased hepatic glycogen content, Polyc... ORPHA:79259
Developmental And Epileptic Encephalopathy 66
Motor stereotypy, Cryptorchidism OMIM:618067
Blepharophimosis-Impaired Intellectual Development Syndrome
Cryptorchidism, Overfriendliness, Attention deficit hyperactivity disorder, Motor stereotypy, Pat... OMIM:619293
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperact... OMIM:300986
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Motor stereotypy, Hyperactivity ORPHA:530983
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:620242
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia... OMIM:617061
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia ORPHA:208447
Congenital Syphilis
Prolonged neonatal jaundice, Hepatosplenomegaly, Pancreatitis, Hypoglycemia ORPHA:499009
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Compulsive behaviors, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:618430
Coffin-Siris Syndrome 7
Compulsive behaviors, Severe temper tantrums, Motor stereotypy, Hyperactivity OMIM:618027
Niemann-Pick Disease, Type C2
Splenomegaly, Death in childhood, Death in infancy, Hepatomegaly, Motor stereotypy, Prolonged neo... OMIM:607625
Cri-Du-Chat Syndrome
Oppositional defiant disorder, Cryptorchidism, Overfriendliness, Self-mutilation, Aggressive beha... OMIM:123450
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism, Patent ductus arteriosus, Hypoglycemia OMIM:618005
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity ORPHA:391307
Intellectual Developmental Disorder, X-Linked 98
Central hypothyroidism, Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, St... OMIM:300912
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Adrenal calcific... ORPHA:289548
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy ORPHA:85277
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia, Cryptorchidism ORPHA:565624
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Motor stereotypy OMIM:619877
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Absence of secon... ORPHA:168558
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Hypoglycemia OMIM:615751
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hypoketotic hypoglycemia, Elevated circulating hepatic transaminase conce... ORPHA:26793
Alazami Syndrome
Abnormal eating behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing ORPHA:319671
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Cryptorchidism, Hypoglycemia OMIM:620224
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Recurrent hand flapping, Aggressive behavior, Attention deficit hyperactivity disorder, Tongue th... OMIM:619580
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Hepatic failure, Hepatic calcification ORPHA:157
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy OMIM:619092
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Hypoglycemia OMIM:616007
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Precocious puberty, Premature adrenarche, Insulin resistance, Decreased response to growth hormon... ORPHA:96182
White-Sutton Syndrome
Self-injurious behavior, Overfriendliness, Aggressive behavior, Hyperactivity, Hypoglycemic seizu... OMIM:616364
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:610042
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Motor stereotypy OMIM:613443
Perlman Syndrome
Hypoglycemia, Cryptorchidism, Pancreatic islet-cell hyperplasia OMIM:267000
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy ORPHA:411986
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Hepatic steatosis OMIM:616271
Hereditary Fructose Intolerance
Hepatomegaly, Jaundice, Chronic hepatic failure, Reactive hypoglycemia ORPHA:469
Joubert Syndrome 6
Hepatic fibrosis, Motor stereotypy, Bile duct proliferation OMIM:610688
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Bruxism, Cryptorchidism, Motor stereotypy, Repetitive compulsive behavior, Dysphagia OMIM:300260
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Death in infancy OMIM:610768
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Hepatic steato... OMIM:229600
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Increased circulating androgen concentration, Elevated circulating 17-hydro... ORPHA:90794
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Bruxism, Motor stereotypy OMIM:618004
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Attention deficit hyperactivity disorder, Motor stereotypy, Cryptorchidism OMIM:620073
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Hypoglycemia, Splenomegaly, Death in infancy, Hepatomegaly OMIM:252010
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatic calcification, Hepatomegaly ORPHA:228308
Glycerol Kinase Deficiency
Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, Cryptorchidism OMIM:307030
Houge-Janssens Syndrome 3
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618354
Wars2-Related Combined Oxidative Phosphorylation Defect
Aggressive behavior, Neonatal hypoglycemia, Dysphagia ORPHA:572798
Cholera
Hypoglycemia, Miscarriage ORPHA:173
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypog... ORPHA:95494
Hijazi-Reis Syndrome
Motor stereotypy OMIM:301094
Leigh Syndrome
Hepatic failure, Dysphagia, Hypoglycemia ORPHA:506
22Q11.2 Duplication Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Aplasia/Hypopla... ORPHA:1727
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor tics, Motor stereotypy OMIM:619725
Radio-Tartaglia Syndrome
Precocious puberty, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia, Mot... OMIM:619312
Acute Liver Failure
Elevated circulating hepatic transaminase concentration, Hepatitis, Hypoglycemia, Hepatic peripor... ORPHA:90062
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Impulsivity OMIM:618914
Ritscher-Schinzel Syndrome 4
Cryptorchidism, Aggressive behavior, Motor stereotypy, Dysphagia, Impulsivity OMIM:619435
4Q21 Microdeletion Syndrome
Self-injurious behavior, Motor stereotypy ORPHA:238750
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper... ORPHA:508
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Dysphagia ORPHA:79264
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperactivit... ORPHA:99819
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Frequent temper tantrums, Cryptorchidism, Attention deficit hyperactivity disorder,... OMIM:619103
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperactivit... ORPHA:424
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618205
Combined Oxidative Phosphorylation Deficiency 58
Hypoglycemia OMIM:620451
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:613658
Smith-Magenis Syndrome
Precocious puberty, Self-injurious behavior, Attention deficit hyperactivity disorder, Hypothyroi... ORPHA:819
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia OMIM:210210
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Cryptorchidism, Self-mutilation, Hyperactivity OMIM:300486
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Motor stereotypy, Compulsive behaviors OMIM:613174
Glutaryl-Coa Dehydrogenase Deficiency
Dysphagia, Fasting hypoglycemia ORPHA:25
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Adrenocortical cytomegaly, Cryptorchidism, Adrenocortical carcinoma, Hepa... OMIM:130650
Alg12-Cdg
Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia, Cryptorchidism, ... ORPHA:79324
Late Infantile Neuronal Ceroid Lipofuscinosis
Aggressive behavior, Motor stereotypy, Obsessive-compulsive trait, Hyperactivity ORPHA:168491
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Motor stereotypy OMIM:616351
Simpson-Golabi-Behmel Syndrome
Polysplenia, Supernumerary nipple, Hypoglycemia, Cryptorchidism, Pancreatic islet-cell hyperplasi... ORPHA:373
Childhood Disintegrative Disorder
Motor stereotypy ORPHA:168782
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Motor stereotypy, Overfriendliness, Supernumerary nipple OMIM:616579
Beckwith-Wiedemann Syndrome
Abnormal pancreas morphology, Hypoglycemia, Exocrine pancreatic insufficiency, Adrenocortical cyt... ORPHA:116
Sandifer Syndrome
Abnormal head movements ORPHA:71272
Holoprosencephaly
Hypoglycemia, Panhypopituitarism, Abnormality of the spleen, Cryptorchidism, Diabetes insipidus, ... ORPHA:2162
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Jerky head movements, Patent ductus arteriosus, Precocious puberty ORPHA:369837
Bannayan-Riley-Ruvalcaba Syndrome
Hashimoto thyroiditis, Thyroid carcinoma, Hypoglycemia, Neoplasm of the adrenal cortex ORPHA:109
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Cryptorchidism, Self-mutilation, Death in childhood, Attention deficit hyperactivity disorder, He... OMIM:619005
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:619121
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia ORPHA:35173
Histiocytoid Cardiomyopathy
Hepatomegaly, Hypoglycemia, Polycystic ovaries ORPHA:137675
Argininemia
Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hyperactivity, Anorexia, Hepatomegaly OMIM:207800
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy OMIM:617807
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy OMIM:619428
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Patent ductus arteriosus ORPHA:435638
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
2Q37 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Supernumerary n... ORPHA:1001
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Motor stereotypy, Dysphagia OMIM:617802
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoglycemia OMIM:614501
Marburg Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Orchitis, Aggressive behav... ORPHA:99826
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Dysphagia ORPHA:572013
Bainbridge-Ropers Syndrome
Self-injurious behavior, Precocious puberty, Supernumerary nipple, Recurrent hand flapping, Crypt... OMIM:615485
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy ORPHA:529965
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Hypoglycemia ORPHA:79282
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Decreased response to growth hormone stimulation test, Sk... ORPHA:177907
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:98784
Kleefstra Syndrome 1
Compulsive behaviors, Aggressive behavior, Motor stereotypy, Cryptorchidism OMIM:610253
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hyperglycemia, Death in infancy, Microvesicular hepatic steatosis, Dysphagia, Incre... OMIM:220111
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsiv... OMIM:620494
Kabuki Syndrome 2
Neonatal hypoglycemia OMIM:300867
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
Menkes Disease
Prolonged neonatal jaundice, Hypoglycemia ORPHA:565
Neurooculorenal Syndrome
Ectopic posterior pituitary, Central hypothyroidism, Recurrent hypoglycemia, Decreased circulatin... OMIM:620305
Phelan-Mcdermid Syndrome
Bruxism, Aggressive behavior, Tongue thrusting, Motor stereotypy, Patent ductus arteriosus OMIM:606232
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavi... ORPHA:476126
Den Hoed-De Boer-Voisin Syndrome
Stereotypical hand wringing, Death in adolescence, Dysphagia, Motor stereotypy, Agitation OMIM:619229
Kleefstra Syndrome
Self-injurious behavior, Supernumerary nipple, Cryptorchidism, Self-mutilation, Aggressive behavi... ORPHA:261494
Hydroxykynureninuria
Motor stereotypy ORPHA:79155
Cerebral Creatine Deficiency Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:300352
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros... OMIM:201750
Chromosome 15Q11.2 Deletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:615656
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing OMIM:212066
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Inappropriate laughter, Motor stereotypy OMIM:615802
White-Sutton Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor stereotypy ORPHA:468678
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Elevated circulating hepatic transaminase concentration, Violent behavior, ... OMIM:619475
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy ORPHA:261144
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Motor stereotypy OMIM:616393
Proximal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:261197
Rett Syndrome, Congenital Variant
Bruxism, Tongue thrusting, Motor stereotypy OMIM:613454
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Cryptorchidism, Aggressive behavior, Polyphagia, Hyperactivity, Collecti... ORPHA:96121
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Motor stereotypy ORPHA:2479
Wiedemann-Steiner Syndrome
Decreased response to growth hormone stimulation test, Aggressive behavior, Dysphagia, Hyperactiv... ORPHA:319182
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Head-banging, Frequent temper tantrums, Attention deficit hyperactivity ... OMIM:619575
Pitt-Hopkins Syndrome
Self-injurious behavior, Motor stereotypy, Cryptorchidism, Supernumerary nipple OMIM:610954
1P36 Deletion Syndrome
Self-injurious behavior, Annular pancreas, Hypogonadism, Abnormality of the spleen, Abnormality o... ORPHA:1606
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Cryptorchidism, Posterior pituitary hypoplasia, Attention deficit hyperactivity disorder, Motor s... ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Cryptorchidism, Hyperactivity, Anterior pituitary hypoplasia, Motor stereotypy... ORPHA:464306
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Motor stereotypy ORPHA:457351
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Frequent temper tantrums, Cryptorchidism, Hyperactivity, Compulsive beha... OMIM:619512
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Bruxism, Cryptorchidism, Polyphagia, Atten... OMIM:615873
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Oppositional defiant disorder, Splenomegaly, Aggressive behavior, Hyper... ORPHA:580
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating h... ORPHA:534
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Motor stereotypy ORPHA:300570
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Motor stereotypy ORPHA:508533
Ogden Syndrome
Decreased testicular size, Cryptorchidism, Microvesicular hepatic steatosis, Dysphagia, Maternal ... OMIM:300855
Primary Fanconi Renotubular Syndrome
Glycosuria, Hypoglycemia ORPHA:3337
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Dysphagia ORPHA:496641
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-mutilation, Repetitive compulsive behavior, Motor stereotypy, Self-biting ORPHA:522077
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Motor stereotypy, Cryptorchidism OMIM:301040
Kinsship Syndrome
Bruxism, Motor stereotypy, Death in infancy OMIM:619297
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Motor stereotypy, Dysphagia, Hyperactivity, Hair-pulling ORPHA:447997
Van Esch-O'Driscoll Syndrome
Hypogonadotropic hypogonadism, Attention deficit hyperactivity disorder, Motor stereotypy, Impuls... OMIM:301030
Developmental And Epileptic Encephalopathy 2
Motor stereotypy OMIM:300672
Costello Syndrome
Hypoglycemia OMIM:218040
Holoprosencephaly 1
Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia