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 |
OMIM:236100 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Neonatal hypoglycemia |
ORPHA:457359 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Exocrine pancreatic insufficiency, Motor stereotypy |
ORPHA:508498 |
Primrose Syndrome |
|
Self-injurious behavior, Bilateral cryptorchidism, Glucose intolerance, Cryptorchidism, Aggressiv... |
OMIM:259050 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Abnormal fear-induced behavior, Cryptorchidism, Aggressive behavior, Hyp... |
ORPHA:353281 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Motor stereotypy, Cryptorchidism |
ORPHA:468631 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Motor stereotypy, Cryptorchidism, Supernumerary nipple |
OMIM:618653 |
Sotos Syndrome |
|
Cryptorchidism, Aggressive behavior, Attention deficit hyperactivity disorder, Hypothyroidism, Pr... |
ORPHA:821 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Patent ductus arteriosus, Motor stereotypy, Cryptorchidism |
OMIM:616682 |
Developmental And Epileptic Encephalopathy 100 |
|
Motor stereotypy, Dysphagia |
OMIM:619777 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Stereotypical body rocking, Repetitive compulsive behavior, Pineal cyst |
ORPHA:513456 |
Norrie Disease |
|
Self-injurious behavior, Cryptorchidism, Attention deficit hyperactivity disorder, Delayed pubert... |
ORPHA:649 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Fixated interests, Hair-pulling, Polyphagia, Attention deficit hyperacti... |
OMIM:620330 |
Arboleda-Tham Syndrome |
|
Patent ductus arteriosus, Motor stereotypy, Dysphagia, Bilateral cryptorchidism |
OMIM:616268 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Dysphagia, Motor stereotypy, Cryptorchidism |
OMIM:617330 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Motor stereotypy, Cryptorchidism, Hyperactivity |
OMIM:309590 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Self-injurious behavior, Abnormal fear-induced behavior, Cryptorchidism, Aggressive behavior, Hyp... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Self-injurious behavior, Abnormal fear-induced behavior, Cryptorchidism, Aggressive behavior, Hyp... |
ORPHA:353277 |
Nmda Receptor Encephalitis |
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Testicular teratoma, Ovarian teratoma, Neoplasm of the thymus, Motor stereotypy, Agitation, Hyper... |
ORPHA:217253 |
Wolf-Hirschhorn Syndrome |
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Accessory spleen, Precocious puberty, Cryptorchidism, Biliary tract abnormality, Motor stereotypy |
OMIM:194190 |
Coffin-Siris Syndrome 12 |
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Hypothyroidism, Motor stereotypy, Cryptorchidism, Elevated circulating hepatic transaminase conce... |
OMIM:619325 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity |
OMIM:614756 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Cryptorchidism, Motor stereotypy, Attention deficit hyperactivity disorder, Hydrocele testis, Dys... |
OMIM:619522 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Self-injurious behavior, Motor stereotypy, Patent ductus arteriosus |
OMIM:612474 |
Lowe Oculocerebrorenal Syndrome |
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Aggressive behavior, Motor stereotypy, Cryptorchidism |
OMIM:309000 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Motor stereotypy |
OMIM:301044 |
Mowat-Wilson Syndrome |
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Bruxism, Cryptorchidism, Motor stereotypy, Asplenia, Hydrocele testis, Dysphagia, Patent ductus a... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bruxism, Cryptorchidism, Motor stereotypy, Asplenia, Hydrocele testis, Dysphagia, Patent ductus a... |
ORPHA:261552 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bruxism, Cryptorchidism, Motor stereotypy, Asplenia, Hydrocele testis, Dysphagia |
ORPHA:261537 |