Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ankyrin 2, brain
Synonyms:
Ankyrin-B,  Gm4392,  Ank-2,  ankyrin B,  Ankyrin-2

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 Ank2 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.

The table below shows human diseases associated to Ank2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ank2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Hepatomegaly, Multiple lipomas, Insulin resistance ORPHA:2398
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... OMIM:615980
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Increased waist to hip ratio, Insulin resistance OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity, Insulin resistance ORPHA:140941
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... ORPHA:293964
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized... OMIM:612526
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Diabetes mellitus... ORPHA:79084
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Cortisone Reductase Deficiency 2
Obesity, Insulin resistance OMIM:614662
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failure to thriv... ORPHA:181393
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Obes... ORPHA:71529
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu... OMIM:608600
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Severe failure to thrive, Transient neonatal diabetes mellitus OMIM:601410
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... ORPHA:79085
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Insulin resistance ORPHA:79087
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... ORPHA:435660
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... ORPHA:71526
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608631
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... ORPHA:280356
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Spastic gait, Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Insulin resistance, Failure to thrive, Lipodystrophy... ORPHA:528
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dystonia, Dysplastic corpus callosum, Failure to thrive, Ataxia, Inability to walk, Microcephaly OMIM:618276
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... ORPHA:363400
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Abn... ORPHA:71212
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concen... OMIM:604367
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Ventriculomegaly, Polymicrog... OMIM:604213
X-Linked Neurodegenerative Syndrome, Bertini Type
Ataxia, Death in infancy, Agenesis of corpus callosum, Macular degeneration ORPHA:85334
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestat... ORPHA:324575
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis, Diabetes mellit... OMIM:615381
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:147630
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... ORPHA:276575
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus, Small for gestational age OMIM:618858
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Pa... ORPHA:2348
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... ORPHA:276580
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Shyness, Gait ataxia OMIM:618221
Primary Lipodystrophy
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Pancreatitis, Splen... ORPHA:90970
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Bowen Syndrome Of Multiple Malformations
Failure to thrive, Developmental glaucoma, Agenesis of corpus callosum, Death in childhood OMIM:211200
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... ORPHA:79086
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... ORPHA:2298
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hepatomegaly, Hypoketotic hypoglycemia, Small for gestational age, Elevated circ... ORPHA:26793
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Small for gestational age, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Familial Multiple Lipomatosis
Increased adipose tissue, Overgrowth, Hyperlipidemia, Insulin resistance, Lipodystrophy ORPHA:199276
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Excessive insulin response to glu... ORPHA:276556
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Optic nerve hypoplasia, Polymicrogyria, Agenesis of cor... ORPHA:250972
Mucolipidosis Iv
Optic atrophy, Dystonia, Dysplastic corpus callosum, Retinal degeneration, Corneal opacity, Opaci... OMIM:252650
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Loss of s... OMIM:151660
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty OMIM:616033
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... OMIM:610947
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus, Flexion contracture OMIM:618856
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Insulin resistance, Failure to thrive, Elevated circulating creatine kinase concent... OMIM:613327
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Loss of s... ORPHA:280365
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... ORPHA:435651
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... ORPHA:300573
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Central Neurocytoma
Paresthesia, Ataxia, Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification... ORPHA:73256
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia ORPHA:871
Short Syndrome
Insulin resistance, Weight loss, Lipodystrophy, Abnormal dental enamel morphology, Diabetes melli... ORPHA:3163
Congenital Hydrocephalus
Abnormal cortical gyration, Optic atrophy, Small cerebral cortex, Colpocephaly, Ventriculomegaly,... ORPHA:2185
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Adipose tissue loss, Precocious puberty, P... OMIM:246200
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Small for gestational age, Insulin resistance, Failure to thrive, Neonatal hyperbil... ORPHA:73272
Growth Factors, Combined Defect Of
Insulin-resistant diabetes mellitus, Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion ... OMIM:233805
Childhood Disintegrative Disorder
Dementia, Social and occupational deterioration, Mental deterioration, Motor deterioration, Impai... ORPHA:168782
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... OMIM:262190
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Aplasia/Hypoplasia of the pyramidal tract, Neonatal death, Polymicrog... OMIM:619602
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Decreased response to growth hormone stimulation test, Hyperbilirubinemia,... OMIM:609734
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl... ORPHA:2126
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Cholecystitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstr... ORPHA:69663
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Dorsocervica... OMIM:615830
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... OMIM:616222
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Blue Diaper Syndrome
Hypercalcemia, Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating thyro... ORPHA:94086
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Small for gestational age, Type I diabetes mellitus, Glycosuria OMIM:618857
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Elevated hepatic transaminas... ORPHA:2089
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hyperinsulinemia ORPHA:791
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... OMIM:248370
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... ORPHA:97279
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... OMIM:615954
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypogonadism, D... ORPHA:453533
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Dysplastic corpus callosum, Failure to thrive, Leukoencephalopathy, Bradykinesia, Hypop... OMIM:614924
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia ORPHA:3085
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Insuli... ORPHA:769
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia, Hepatic... ORPHA:436182
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Death in childhood, Retinal pigment epithelial mottling,... OMIM:619517
Placental Insufficiency
Small for gestational age, Insulin resistance ORPHA:439167
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Martsolf Syndrome 2
Developmental cataract, Cataract, Dilation of lateral ventricles, Decreased body weight, Hypoplas... OMIM:619420
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Chorioretinal coloboma, Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum OMIM:300864
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Short Syndrome
Small for gestational age, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intoleranc... OMIM:269880
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Reduced subcutaneous adipo... OMIM:609069
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Basal ganglia necrosis, Dystonia, Small for gestational ... ORPHA:79243
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Decreased body weight, Lissen... OMIM:614833
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Hyperlipidemia,... ORPHA:189439
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed puberty ORPHA:90154
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... OMIM:617253
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia OMIM:606762
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Corticospinal tract hypoplasia, Ventriculomegaly, Ataxia, Short corpus cal... ORPHA:255138
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hype... ORPHA:79237
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C... OMIM:606069
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Spastic gait, Impaired vibration sensation in the lower limbs, Hypoplasia of the co... ORPHA:401815
Alg13-Cdg
Decreased body weight, Abnormal lateral ventricle morphology ORPHA:324422
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Insulin r... ORPHA:90301
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... ORPHA:2088
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Gait ataxia, Gait imbalance, Abnormal lateral ventricle morpho... ORPHA:488635
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Aromatase Deficiency
Type II diabetes mellitus, Hyperlipidemia, Tall stature, Insulin resistance, Eunuchoid habitus, H... ORPHA:91
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:144600
Dopa-Responsive Dystonia
Gait disturbance, Dystonia, Arm dystonia, Fatigable weakness, Inability to walk, Generalized dyst... ORPHA:255
Perlman Syndrome
Hepatomegaly, Tall stature, Hyperinsulinemia, Abnormal pancreas morphology, Inguinal hernia, Femo... ORPHA:2849
Hepatic Veno-Occlusive Disease
Hepatomegaly, Increased total bilirubin, Elevated hepatic transaminase, Increased body weight, Ja... ORPHA:890
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Mehmo Syndrome
Hypoglycemia, Small for gestational age, Male hypogonadism, Obesity, Decreased response to growth... OMIM:300148
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Leprechaunism
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Fail... ORPHA:508
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Abnormal circulating lipid concentration, Obesity, Biliary tract abnor... ORPHA:3191
Werner Syndrome
Thyroid carcinoma, Type II diabetes mellitus, Chondrocalcinosis, Insulin resistance, Lipodystroph... ORPHA:902
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Abnormal circulating lipid concentration, Truncal obesity, Diabetes mellitus,... OMIM:616541
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Insulin resistance, Premature adrenarche, Recurrent hypog... ORPHA:813
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Insulin resistance, Truncal obesity, Hypogonadism, Nephrogenic diabetes insipid... OMIM:209900
Monosomy 13Q34
Hepatic steatosis, Obesity, Infantile hypercalcemia, Insulin resistance ORPHA:96168
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Congenital hypothyroidism, Increased body mass index, Increased T3/T4 ratio, Impaire... OMIM:614450
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Diabetes mellitus OMIM:615981
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocell... ORPHA:465508
Halothane Hepatitis
Obesity, Hepatitis, Viral hepatitis, Eosinophilia, Jaundice OMIM:234350
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Failure to thrive, Increased hepat... OMIM:220111
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Gait disturbance, Multifocal cerebral white matter abnormalities, Failure to thrive in infancy, D... ORPHA:488627
Pancreatic Agenesis 1
Pancreatic hypoplasia, Failure to thrive, Diabetes mellitus, Exocrine pancreatic insufficiency, N... OMIM:260370
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Umbilical hernia, Tall stature, Insulin-resistant diabetes mellitus at puberty, Red... OMIM:608594
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepa... OMIM:602579
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... ORPHA:1501
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Leptin Receptor Deficiency
Pituitary hypothyroidism, Diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Decreased r... OMIM:614963
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hepatomegaly, Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus OMIM:616026
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Partial agenesis of the corpus callosum, Obesity, Spastic gait, Astigmat... OMIM:617296
Alg2-Cdg
Iris coloboma, Cataract, Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Hyper... ORPHA:79326
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Attention deficit hyperactivity disorder, Poor eye contact ORPHA:444002
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Optic nerve hypoplasia, Dilation of lateral ventricles, Agenesis of co... OMIM:618736
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Umbilical hernia, Tall stature, Insulin-resistant diabetes mellitus at puberty, Red... OMIM:269700
Temple Syndrome
Type II diabetes mellitus, Small for gestational age, Recurrent hypoglycemia, Obesity, Decreased ... ORPHA:254516
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Precocious puberty ORPHA:254531
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Anencephaly, Retinal dysplasia, Ventriculomegaly, Hydrocephalus, Optic... OMIM:615287
Whipple Disease
Hepatomegaly, Cachexia, Hyponatremia, Insulin resistance, Splenomegaly, Hypothyroidism ORPHA:3452
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Obesity, Type II diabetes mellitus ORPHA:2377
Halperin-Birk Syndrome
Optic atrophy, Developmental cataract, Colpocephaly, Failure to thrive, Ventriculomegaly, Inabili... OMIM:618651
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Truncal obesity OMIM:615986
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Decreased liver... ORPHA:79319
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... OMIM:618620
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Hypogonadotropic hypogonadism, Diabetes mellitus OMIM:610628
Macrosomia Adiposa Congenita
Obesity, Eosinophilia, Large for gestational age OMIM:248100
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Glucose intolerance, Impaired glucose tolerance, Splenomegaly, Ch... OMIM:615630
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hyperglycemia, Joint contracture of the hand, Inguinal hernia, Camptodactyly of... OMIM:175700
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Failure to t... ORPHA:264580
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulat... ORPHA:79240
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus, Hypo... ORPHA:77296
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Obesity, Decreased circulating cortisol level OMIM:600955
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Decreased serum iron, Diabetes mellitus, Flexion contracture, Overweight, Hypo... ORPHA:391372
Cach Syndrome
Optic atrophy, Dysmetria, Dysgyria, Optic neuritis, Truncal ataxia, T2 hypointense thalamus, Cere... ORPHA:135
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Paroxysmal dystonia, Dysplastic corpus callosum, Choreoathetosis, Ven... ORPHA:2524
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Increased blood ... ORPHA:230
Hsd10 Disease
Abnormal social behavior, Gait disturbance, Ataxia ORPHA:391417
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Cerebral cortical hemiatrophy, Bradykinesia, Dilation of lateral ventricles, Difficulty... ORPHA:306669
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dysgenesis of the hippocampus, Torticollis, Spastic ataxia, Polymicrogyria, Abnormality of the ba... ORPHA:300570
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Small for gestational age, Go... OMIM:210740
Fanconi Anemia, Complementation Group I
Colpocephaly, Optic nerve hypoplasia, Absent septum pellucidum, Decreased body weight, Astigmatis... OMIM:609053
Gitelman Syndrome
Maternal diabetes, Type II diabetes mellitus, Chondrocalcinosis, Primary hyperaldosteronism, Insu... ORPHA:358
Central Precocious Puberty
Overgrowth, Increased circulating gonadotropin level, Isosexual precocious puberty, Premature the... ORPHA:759
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Developmental cataract, Peripheral axonal neuropathy, Dysplastic corpus callosum, Neonatal death OMIM:618810
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Combined Oxidative Phosphorylation Deficiency 53
Death in infancy, Dysplastic corpus callosum, Failure to thrive, Death in childhood, Secondary mi... OMIM:619423
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Diabetes insipid... OMIM:203800
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness OMIM:300801
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Flexion contracture, Insulin resistance ORPHA:90153
Summitt Syndrome
Obesity OMIM:272350
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Optic atrophy, Colpocephaly, Simplified gyral pattern, Ventriculomeg... OMIM:615219
Bloom Syndrome
Small for gestational age, Insulin resistance, Adipose tissue loss, Abdominal obesity, Diabetes m... ORPHA:125
Cardiofaciocutaneous Syndrome 4
Developmental cataract, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Abnormal later... OMIM:615280
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Unilateral Hemispheric Polymicrogyria
Dilation of lateral ventricles, Thick cerebral cortex, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Retinal coloboma, Failure to thrive, Iris coloboma, Pachygyria, Polym... ORPHA:2328
Autosomal Recessive Cutis Laxa Type 2A
Athetosis, Dandy-Walker malformation, Dystonia, Dysplastic corpus callosum, Dilated fourth ventri... ORPHA:357058
Autosomal Dominant Non-Syndromic Intellectual Disability
Cerebral atrophy, Dystonia, Chorea, Leukoencephalopathy, Abnormal cerebral white matter morpholog... ORPHA:178469
Idiopathic Neonatal Atrial Flutter
Maternal diabetes, Large for gestational age ORPHA:45452
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... ORPHA:96184
Estrogen Resistance Syndrome
Overgrowth, Tall stature, Glucose intolerance, Absence of pubertal development, Absence of second... ORPHA:785
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Combined Oxidative Phosphorylation Defect Type 39
Deep white matter hypodensities, Optic disc pallor, Abnormal corpus callosum morphology, Decrease... ORPHA:565624
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Ventriculomegaly, Small basal ganglia, Periventricular leukomalacia, ... OMIM:616900
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Hyperbilirubinemia, Absen... OMIM:615710
Bangstad Syndrome
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... ORPHA:1227
Autosomal Recessive Spastic Paraplegia Type 11
Gait disturbance, Hypothalamic atrophy, Peripheral axonal neuropathy, Retinal degeneration, Ortho... ORPHA:2822
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Dementia, Semantic dementia, Memory impairment ORPHA:1020
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Type II diabetes mellitus, Eunuchoid habitus, Hypogonadism, Abnormality of the thyroid gland, Obe... ORPHA:2234
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Small for gestational age, Insulin resistance, Failure to thrive, Premature... ORPHA:96182
Pontocerebellar Hypoplasia, Type 13
Dandy-Walker malformation, Failure to thrive, Inability to walk, Hypoplastic hippocampus, Hypopla... OMIM:618606
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Hyperglycemia, Contractures of the joints of the lower limbs, Failure to t... ORPHA:99885
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Peritonitis, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Isolated Sedoheptulokinase Deficiency
Hepatitis, Arthrogryposis multiplex congenita, Cholestatic liver disease, Steatorrhea, Cholestasi... ORPHA:440713
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Dilation of lateral ventricles, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microc... OMIM:618890
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis... ORPHA:905
Malan Overgrowth Syndrome
Optic disc pallor, Optic disc hypoplasia, Ventriculomegaly, Episodic ataxia, Dilation of lateral ... ORPHA:420179
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Congenital hypothyroidism, Diabetes mellitus OMIM:614613
Congenital Analbuminemia
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, ... ORPHA:86816
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... ORPHA:209902
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Shyness, Waddling gait, Difficulty walking ORPHA:280763
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Dilation of lateral ventricles, Agenesis of corpus callosum OMIM:300952
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Mildly elevated creatine kinase, Postprandial hyperglycemia, Episodic hyp... ORPHA:681
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Failure to thrive, Simplified gyral pattern, Ventriculomegaly, Pachyg... OMIM:619179
Smith-Kingsmore Syndrome
Hypoglycemia, Umbilical hernia, Large for gestational age OMIM:616638
Nephronophthisis 15
Obesity, Hepatic failure OMIM:614845
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Cerebral white matter hypoplasia, Simplified gyral pattern, Primary... ORPHA:284417
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Scissor gait, Bradykinesia, Diffuse cerebral atrophy, Dilation of latera... ORPHA:363654
Oculocerebrodental Syndrome
Focal white matter lesions, Developmental cataract, Dysplastic corpus callosum, Abnormality of th... ORPHA:557003
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus, Overweight ORPHA:401923
Bilateral Generalized Polymicrogyria
Dystonia, Diffuse white matter abnormalities, Hypoplastic hippocampus, Dilation of lateral ventri... ORPHA:208447
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Hyperactivity ORPHA:101039
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Hyperglycemia, Weight loss, Hyperammonemia, Hyperuricemia ORPHA:134
Glutamine Deficiency, Congenital
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Subependymal cysts, Neonatal d... OMIM:610015
Intellectual Developmental Disorder, X-Linked 103
Dilation of lateral ventricles, Polymicrogyria OMIM:300982
Weiss-Kruszka Syndrome
Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Glucose intolerance, Impaired glucose tolerance, Pituitary adenoma, Abdominal obesit... OMIM:219090
Severe X-Linked Intellectual Disability, Gustavson Type
Dandy-Walker malformation, Optic atrophy, Small for gestational age, Dilated fourth ventricle, Di... ORPHA:3078
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Congenital hypothyroidism, Goiter, Decreased circulating T4 level, Large for gestational age, Ele... ORPHA:226313
Hypotonia, Infantile, With Psychomotor Retardation
Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:616816
Glutaric Acidemia I
Dystonia, Choreoathetosis, Failure to thrive, Symmetrical progressive peripheral demyelination, D... OMIM:231670
Wars2-Related Combined Oxidative Phosphorylation Defect
Athetosis, Cerebral white matter hypoplasia, Dysmetria, Dilated fourth ventricle, Leukoencephalop... ORPHA:572798
Slc35A2-Cdg
Dandy-Walker malformation, Failure to thrive in infancy, Cerebral white matter atrophy, Abnormal ... ORPHA:356961
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98855
Microphthalmia-Brain Atrophy Syndrome
Dilation of lateral ventricles, Corpus callosum atrophy, Microcephaly, Diffuse cerebral atrophy ORPHA:77299
Mental Retardation, Autosomal Dominant 48
Dilated fourth ventricle, Polymicrogyria, Dilation of lateral ventricles, Hypoplasia of the corpu... OMIM:617751
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Hypernatremia, Neonatal hyperbilirubinemia, Hyperglycemia, Failure to... ORPHA:3008
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Sclerocornea, Absent septum pellucidum, Iris coloboma, Hydrocephalus, Cataract, Pig... OMIM:309801
Lamb-Shaffer Syndrome
Abnormal social behavior, Hyperactivity, Ataxia ORPHA:530983
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating free T3, Thyroid hypoplasia, Abnormal circulating thyroglobulin level, Pitu... ORPHA:99832
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum... ORPHA:544488
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Obesity, ... OMIM:603233
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98863
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Hypoglycemia OMIM:608624
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98853
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypogonadism, Enamel hypopla... OMIM:612462
Cushing Disease
Adrenal hyperplasia, Increased urinary cortisol level, Increased circulating cortisol level, Impa... ORPHA:96253
Bachmann-Bupp Syndrome
Hypoglycemia, Hyperbilirubinemia, Large for gestational age OMIM:619075
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria, Microcephaly OMIM:618731
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Inappropriate antidiuretic hormone secretion, Thyroid hypoplasia, Hypogonadotropic ... ORPHA:226307
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypercholesterolemia, Hypothyroidism, Hypopituitarism ORPHA:90065
Holoprosencephaly 5
Central diabetes insipidus, Dilation of lateral ventricles, Hydrocephalus, Microcephaly OMIM:609637
Smith-Magenis Syndrome
Hypercholesterolemia, Increased body weight, Hypertriglyceridemia, Abnormality of the thyroid gland OMIM:182290
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Insulin resistance, Secondary hyperparathyro... ORPHA:273
Atypical Werner Syndrome
Type II diabetes mellitus, Chondrocalcinosis, Abnormality of circulating leptin level, Insulin-re... ORPHA:79474
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Type II diabetes mellitus, Failure to thrive, Xerostomia, Absence of pube... ORPHA:398069
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Focal polymicrogyria, Attent... OMIM:619103
Thyrotoxic Periodic Paralysis
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Episodic hypokalemia, Weight loss,... ORPHA:79102
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypogonadism, Enamel hypopla... OMIM:103580
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Dandy-Walker malformation, Subretinal deposits, Colpocephaly, Failure to... ORPHA:397715
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Overgrowth, Small for gestational age, Large for gestational age, Umbilical hernia ORPHA:254534
Sheehan Syndrome
Hyponatremia, Central adrenal insufficiency, Hypoglycemia, Abnormal size of pituitary gland, Decr... ORPHA:91355
Aicardi Syndrome
Dilated third ventricle, Partial agenesis of the corpus callosum, Choroid plexus cyst, Dandy-Walk... OMIM:304050
Senior-Loken Syndrome 9
Obesity, Hepatic fibrosis, Cholestasis OMIM:616629
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Hyperglycemia, Congenital diaphragmatic hernia, Failure to thrive, Aplasia... OMIM:600001
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... ORPHA:98754
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Ataxia, Hypoplasia of the corpus callosum, Agenesis... ORPHA:314679
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Dementia, Dystonia, Progressive gait ataxia, Abnormal soci... ORPHA:309271
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Type II diabetes mellitus, Failure to thrive, Premature adrenarche, Hypog... ORPHA:398079
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Developmental cataract, Cavum septum pellucidum, Inability to walk, Diff... ORPHA:464738
Aicardi-Goutieres Syndrome 9
Optic atrophy, Dystonia, Failure to thrive, Weight loss, Diffuse leukoencephalopathy, Chorioretin... OMIM:619487
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Absence of subcutaneous fat, Weight loss, Severe failure to thrive, Decreased... ORPHA:740
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... ORPHA:98793
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Atypical pulmonary carcinoid tumor, Small intestine carcinoid, Neoplasm of t... ORPHA:99889
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... ORPHA:177904
D-2-Hydroxyglutaric Aciduria 1
Dilation of lateral ventricles, Multifocal cerebral white matter abnormalities, Subependymal cysts OMIM:600721
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... ORPHA:177901
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Elevated circulating creatine kinase concentration, Obesity, Achilles tendon contracture, Hyperal... OMIM:615418
Alström Syndrome
Hyperlipidemia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concent... ORPHA:64
Macrocephaly/Autism Syndrome
Obesity, Hepatomegaly, Splenomegaly OMIM:605309
Down Syndrome
Obesity, Type II diabetes mellitus, Umbilical hernia, Hypothyroidism ORPHA:870
Prader-Willi Syndrome
Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Hypogonadotropic ... OMIM:176270
Distal Monosomy 10Q
Failure to thrive, Facial diplegia, Astigmatism, Cavum septum pellucidum, Ataxia, Unsteady gait, ... ORPHA:96148
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Hyponatremia, Hyperlipidemia, Elevated hepatic transaminase, Hyperglycemi... ORPHA:293987
Gaisböck Syndrome
Hyperproteinemia, Obesity, Hyperuricemia, Hypercholesterolemia, Overweight, Diabetes mellitus, Hy... ORPHA:90041
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Astigmatism, Abnormal corpus callosum morphology, Cavum septum pellucidum, Ataxia, Abnormal cereb... ORPHA:457279
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Diabetes insipidus, Abnormality of the hypothalamus-pituitary axis, Anterior p... ORPHA:3157
Prader-Willi-Like Syndrome
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... ORPHA:398073
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior, Progressive psychomotor deterioration, Dystonia, Progressive gait ataxia ORPHA:309263
16Q24.3 Microdeletion Syndrome
Colpocephaly, Optic nerve hypoplasia, Ventriculomegaly, Astigmatism, Hypoplasia of the corpus cal... ORPHA:261250
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Dilation of lateral ventricles, Small for gestational age, Microcephaly OMIM:619278
Kohlschutter-Tonz Syndrome-Like
Obesity, Ventriculomegaly, Ataxia, Inability to walk, Decreased body weight, Death in adolescence... OMIM:619229
Pmm2-Cdg
Hepatic fibrosis, Insulin resistance, Failure to thrive, Elevated hepatic transaminase, Hypogonad... ORPHA:79318
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Chromosome 6Q24-Q25 Deletion Syndrome
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum, Probst bundles OMIM:612863
Tonne-Kalscheuer Syndrome
Shyness, Broad-based gait OMIM:300978
Khan-Khan-Katsanis Syndrome
Buphthalmos, Colpocephaly, Failure to thrive, Corneal scarring, Peters anomaly, Pigmentary retino... OMIM:618460
Spondyloenchondrodysplasia
Chorea, Decreased response to growth hormone stimulation test, Ventriculomegaly, Abnormal lateral... ORPHA:1855
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Progressive gait ataxia, Tip-toe gait, Abnormal social behavior, Gait ataxia ORPHA:309256
Craniopharyngioma
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Hypogonadotro... ORPHA:54595
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity, Precocious puberty, Type I diabetes mellitus, Dentinogenesis imperfecta OMIM:619269
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Pachygyria, Agyria, Dilation ... ORPHA:2148
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Obesity, Precociou... OMIM:301066
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Shyness, Poor eye contact, Hyperactivity, Impaired social interactions, Attention deficit hyperac... ORPHA:449291
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Lens coloboma OMIM:618914
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly OMIM:602200
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Death in infancy, Optic nerve compression, Hydrocephalus, Death in childhood, Dila... OMIM:612301
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Absent septum pellucidum, Attention deficit hyperactivi... OMIM:618820
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Ventriculomegaly ORPHA:363444
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Secondary growth hormone deficiency, Absence of secondary sex char... ORPHA:2235
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Anterior polar cataract, Failure to thrive, Hydrocephalus, Overweight, D... OMIM:619575
Woodhouse-Sakati Syndrome
Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellitus, Delayed puberty, Decreased ser... ORPHA:3464
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Colpocephaly, Optic nerve hypoplasia, Agenesis of corpus callosum, Microce... OMIM:301043
Childhood Absence Epilepsy
Abnormal social behavior, Attention deficit hyperactivity disorder ORPHA:64280
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Hyperactivity, Ataxia ORPHA:369891
Early-Onset Schizophrenia
Shyness, Cognitive impairment, Lack of peer relationships, No social interaction, Attention defic... ORPHA:96369
X-Linked Intellectual Disability, Cilliers Type
Shyness ORPHA:163971
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Attention deficit hyperactivity disorder OMIM:619293
Acrodysostosis With Multiple Hormone Resistance
Elevated circulating parathyroid hormone level, Congenital hypothyroidism, Hypogonadism, Pseudohy... ORPHA:280651
6Q Terminal Deletion Syndrome
Abnormal cerebral cortex morphology, Dysmetria, Colpocephaly, Failure to thrive, Hypoplasia of th... ORPHA:75857
Choreoacanthocytosis
Oromandibular dystonia, Frontal cortical atrophy, Abnormal hippocampus morphology, Lingual dyston... ORPHA:2388
Cog5-Cdg
Cerebral white matter atrophy, Truncal ataxia, Diffuse cerebral atrophy, Dilation of lateral vent... ORPHA:263487
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly OMIM:618569
Cri-Du-Chat Syndrome
Overfriendliness, Hyperactivity, Difficulty walking OMIM:123450
Mosaic Trisomy 1
Dilation of lateral ventricles, Opacification of the corneal stroma, Polymicrogyria, Agenesis of ... ORPHA:1692
Beckwith-Wiedemann Syndrome
Adrenocortical carcinoma, Adrenocortical cytomegaly, Omphalocele, Hypoglycemia, Hepatomegaly, Tal... ORPHA:116
Fg Syndrome Type 1
Abnormal social behavior, Attention deficit hyperactivity disorder, Broad-based gait ORPHA:93932
Bainbridge-Ropers Syndrome
Death in infancy, Failure to thrive, Inability to walk, Dilation of lateral ventricles, Hypoplasi... OMIM:615485
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Obesit... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Obesit... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Obesit... ORPHA:99228
Monosomy X
Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Obesit... ORPHA:99226
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Joubert Syndrome 8
Prolonged neonatal jaundice, Obesity, Hepatomegaly OMIM:612291
X-Linked Intellectual Disability, Wilson Type
Dilation of lateral ventricles, Microcephaly ORPHA:85290
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Niemann-Pick Disease Type C
Gait disturbance, Dementia, Dystonia, Axial dystonia, Cognitive impairment, Progressive neurologi... ORPHA:646
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Dysmetria, Ataxia, Nonprogressive cerebellar ataxia, Abnormal social behavior, Unsteady gait, Mem... ORPHA:314647
Scorpion Envenomation
Hypokalemia, Hyperglycemia, Glycosuria, Increased circulating NT-proBNP concentration, Elevated c... ORPHA:466677
Witteveen-Kolk Syndrome
Dysplastic corpus callosum, Small for gestational age, Ventriculomegaly, Iris coloboma, Hyperacti... OMIM:613406
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Abnormal caudate nucleus morphology, Primary microcephaly, Periventricular l... ORPHA:293725
Zttk Syndrome
Optic atrophy, Dysplastic corpus callosum, Failure to thrive, Ventriculomegaly, Periventricular l... OMIM:617140
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Dilation of lateral ventricles, Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy OMIM:607485
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypomagnesemia, Obesity ORPHA:34527
48,Xxxy Syndrome
Abnormal social behavior, Attention deficit hyperactivity disorder ORPHA:96263
Carney Complex
Thyroid carcinoma, Euthyroid multinodular goiter, Increased serum insulin-like growth factor 1, H... ORPHA:1359
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Pineal cyst, Dysplastic corpus callosum, Slender build, Thick corpus callosum, Ataxia OMIM:300967
White-Kernohan Syndrome
Obesity, Attention deficit hyperactivity disorder, Dysplastic corpus callosum OMIM:619426
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Failure to thrive in infancy, Dysplastic corpus callosum, Progressive ventriculome... ORPHA:500150
Prader-Willi Syndrome Due To Translocation
Stellate iris, Obesity, Attention deficit hyperactivity disorder, Anterior pituitary hypoplasia, ... ORPHA:177907
Perlman Syndrome
Pancreatic islet-cell hyperplasia, Congenital diaphragmatic hernia, Large for gestational age OMIM:267000
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Obesity, Decreased response to growth hormone stimulation test, Hypothyroidism ORPHA:444077
Bardet-Biedl Syndrome 20
Pancreatitis, Hypercholesterolemia, Male hypogonadism, Elevated hepatic transaminase, Obesity OMIM:619471
Luscan-Lumish Syndrome
Shyness OMIM:616831
49,Xxxxy Syndrome
Overfriendliness, Shyness, Attention deficit hyperactivity disorder ORPHA:96264
Chromosome 1P36 Deletion Syndrome, Distal
Optic atrophy, Optic disc pallor, Obesity, Leukoencephalopathy, Optic disc coloboma, Microcephaly... OMIM:607872
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Retinal coloboma, Iris coloboma, Polymicrogyria, Abnormal hippocampus morphology, Focal hypointen... ORPHA:261552
Koolen-De Vries Syndrome
Overfriendliness ORPHA:96169
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dysplastic corpus callosum, Failure to thrive, Slender build, Ataxia, Anterior pituitary hypoplas... ORPHA:466791
Digeorge Syndrome
Parathyroid agenesis, Inguinal hernia, Cholelithiasis, Decreased circulating parathyroid hormone ... OMIM:188400
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior, Inability to walk ORPHA:1675
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Retinal coloboma, Iris coloboma, Polymicrogyria, Abnormal hippocampus morphology, Focal hypointen... ORPHA:261537
Weaver Syndrome
Dilation of lateral ventricles, Absent septum pellucidum OMIM:277590
Mend Syndrome
Abnormal social behavior, Hyperactivity ORPHA:401973
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Failure to thrive, Corneal scarring, Abnormal corpus callosum morphology, Hyperactivity, Cataract... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Failure to thrive, Corneal scarring, Abnormal corpus callosum morphology, Hyperactivity, Cataract... ORPHA:353277
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:363958
Trichotillomania
Hair-pulling OMIM:613229
Hellp Syndrome
Elevated hepatic transaminase, Increased body weight ORPHA:244242
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Small pituitary gland, Ventric... OMIM:619479
Trichothiodystrophy
Gait ataxia, Impaired social reciprocity ORPHA:33364
Van Esch-O'Driscoll Syndrome
Shyness OMIM:301030
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia ORPHA:477993
Tuberous Sclerosis Complex
Abnormal social behavior, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:805
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Dilation of lateral ventricles, Pachygyria, Retinal dystrophy OMIM:263520
Genitopatellar Syndrome
Colpocephaly, Agenesis of corpus callosum, Microcephaly OMIM:606170
Congenital Disorder Of Glycosylation, Type Iim
Rod-cone dystrophy, Cerebral atrophy, Dilation of lateral ventricles, Hypoplasia of the corpus ca... OMIM:300896
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling ORPHA:447997
Williams Syndrome
Gait disturbance, Gait imbalance, Dysmetria, Ataxia, Overfriendliness, Attention deficit hyperact... ORPHA:904
1P21.3 Microdeletion Syndrome
Shyness ORPHA:293948
Biliary, Renal, Neurologic, And Skeletal Syndrome
Failure to thrive, Neonatal death, Anterior pituitary hypoplasia, Hydrocephalus, Dilation of late... OMIM:619534
Monosomy 22Q13.3
Hyperactivity, Hair-pulling ORPHA:48652

Histopathology

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

There is no histopathology data for Ank2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ank2.

No publications found that use IMPC mice or data for Ank2.

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