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Gene: Ank2 MGI:88025

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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.

Human diseases associated with Ank2 (2 diseases)
Human diseases predicted to be associated with Ank2 (481 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cardiac Arrhythmia, Ankyrin-B-Related		Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval	OMIM:600919
Romano-Ward Syndrome		Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo...	ORPHA:101016

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

Disease	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	Type I diabetes mellitus, Diabetes mellitus	OMIM:125852
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, 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	Transient neonatal diabetes mellitus, Type II 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	Insulin resistance, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology	ORPHA:2398
Type 2 Diabetes Mellitus	Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus	OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia	OMIM:600496
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity, Delayed puberty	ORPHA:140941
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus	OMIM:613370
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly...	OMIM:612526
Morbid Obesity And Spermatogenic Failure	Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con...	OMIM:615703
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Increased hepatic glycogen content, Hypoketotic hypoglycemia, Truncal obesity, Large for gestatio...	ORPHA:293964
Transient Neonatal Diabetes Mellitus	Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you...	ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 11	Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus	OMIM:613375
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Pancreatitis, Lipoatrophy, Hepatomegaly, Diabetes mellitus, Insulin resistance,...	ORPHA:79084
Asperger Syndrome, X-Linked, Susceptibility To, 2	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:300494
Asperger Syndrome, Susceptibility To, 1	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:608631
Lipodystrophy, Familial Partial, Type 3	Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal...	OMIM:604367
Lipodystrophy, Familial Partial, Type 6	Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating...	OMIM:615980
Autism, Susceptibility To, 20	Impaired social interactions	OMIM:618830
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia...	ORPHA:411593
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ...	ORPHA:263458
Lipodystrophy, Familial Partial, Type 4	Lipoatrophy, Lipodystrophy, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin re...	OMIM:613877
Mandibuloacral Dysplasia	Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc...	ORPHA:2457
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity	OMIM:614662
Growth Hormone Insensitivity Syndrome	Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I...	ORPHA:181393
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit...	ORPHA:71529
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Large for gestational age, Truncal obesity	OMIM:240900
Lipodystrophy, Familial Partial, Type 1	Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss...	OMIM:608600
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia	OMIM:601410
Akt2-Related Familial Partial Lipodystrophy	Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia, Increa...	ORPHA:79085
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Beta-cell dysfunction, Diabetes mellitus	OMIM:612227
Acquired Partial Lipodystrophy	Insulin resistance, Hepatic steatosis, Lipoatrophy	ORPHA:79087
Lipe-Related Familial Partial Lipodystrophy	Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane...	ORPHA:435660
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr...	ORPHA:71526
Mody	Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly...	ORPHA:552
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo...	OMIM:256450
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp...	OMIM:601820
Spastic Paraplegia 45, Autosomal Recessive	Optic atrophy, Spastic gait, Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Plin1-Related Familial Partial Lipodystrophy	Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ...	ORPHA:280356
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s...	ORPHA:171706
Congenital Generalized Lipodystrophy	Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Proportionate t...	ORPHA:528
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep...	ORPHA:363400
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce...	ORPHA:71212
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Autism, Susceptibility To, X-Linked 3	Lack of peer relationships, Abnormal nonverbal communicative behavior	OMIM:300496
Autism, Susceptibility To, 8	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:607373
Autism, Susceptibility To, X-Linked 1	Lack of peer relationships, Abnormal nonverbal communicative behavior	OMIM:300425
Autism	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:608636
Chudley-Mccullough Syndrome	Hydrocephalus, Dysplastic corpus callosum, Polymicrogyria, Hypoplasia of the corpus callosum, Par...	OMIM:604213
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc...	OMIM:617885
Hyperinsulinism Due To Hnf1A Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Maturit...	ORPHA:324575
X-Linked Neurodegenerative Syndrome, Bertini Type	Ataxia, Agenesis of corpus callosum, Macular degeneration, Death in infancy	ORPHA:85334
Sinoatrial Node Dysfunction And Deafness	Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope	OMIM:614896
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Flexion contracture, Lipodystrophy, Elevated hepatic transaminase, Hypertriglycerid...	OMIM:615381
Diabetes Mellitus, Permanent Neonatal, 4	Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age	OMIM:618858
Sick Sinus Syndrome 4	Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,...	OMIM:619464
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc...	ORPHA:276575
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Failure to thrive, Ataxia, Dysplastic corpus callosum, Inability to walk, Microcephaly, Motor axo...	OMIM:618276
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Ventriculomegaly, Mild mal...	ORPHA:500166
Pparg-Related Familial Partial Lipodystrophy	Lipoatrophy, Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Maternal diabetes, Loss of faci...	ORPHA:79083
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,...	OMIM:610021
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc...	ORPHA:276580
Familial Partial Lipodystrophy, Dunnigan Type	Lipoatrophy, Pancreatitis, Cellulitis, Hepatomegaly, Splenomegaly, Lipodystrophy, Hypertriglyceri...	ORPHA:2348
Primary Lipodystrophy	Type II diabetes mellitus, Lipoatrophy, Pancreatitis, Hyperlipidemia, Splenomegaly, Cirrhosis, Li...	ORPHA:90970
Hyperinsulinemic Hypoglycemia, Familial, 3	Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus	OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 6	Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym...	OMIM:606762
Hyperinsulinism Due To Glucokinase Deficiency	Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h...	ORPHA:79299
Diabetes Mellitus, Permanent Neonatal, 1	Small for gestational age, Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus	OMIM:606176
Lissencephaly 4	Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpocephaly, Agenesis of corpus c...	OMIM:614019
Acquired Generalized Lipodystrophy	Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Generalized ...	ORPHA:79086
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Abnormal social behavior	ORPHA:436151
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hepatomegaly, Jaundice, Hypoproteinemia, Small for gestational age, Hyperammonemia,...	ORPHA:26793
Bowen Syndrome Of Multiple Malformations	Failure to thrive, Death in childhood, Agenesis of corpus callosum, Developmental glaucoma	OMIM:211200
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu...	ORPHA:2298
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor...	ORPHA:250972
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia	OMIM:610582
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul...	ORPHA:300751
Lipodystrophy, Familial Partial, Type 2	Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m...	OMIM:151660
Hyperinsulinism Due To Ucp2 Deficiency	Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket...	ORPHA:276556
Incessant Infant Ventricular Tachycardia	Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ...	ORPHA:45453
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,...	ORPHA:276608
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
Familial Multiple Lipomatosis	Hyperlipidemia, Overgrowth, Lipodystrophy, Increased adipose tissue, Insulin resistance	ORPHA:199276
Brugada Syndrome	Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi...	ORPHA:130
Hyperinsulinemic Hypoglycemia, Familial, 5	Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:609968
Atrial Fibrillation, Familial, 18	Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa...	OMIM:617280
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu...	ORPHA:79644
Long Qt Syndrome 2	Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,...	OMIM:613688
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m...	OMIM:610947
Insulinomatosis And Diabetes Mellitus	Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,...	OMIM:147630
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Flexion contracture, Hyperglycemia, Reduced C-peptide level	OMIM:618856
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Pancr...	ORPHA:280365
Intellectual Developmental Disorder, Autosomal Recessive 66	Shyness	OMIM:618221
Cidec-Related Familial Partial Lipodystrophy	Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Hepatic ...	ORPHA:435651
Hyperinsulinemic Hypoglycemia, Familial, 4	Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:609975
Long Qt Syndrome 9	Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT...	OMIM:611818
Congenital Hydrocephalus	Hydrocephalus, Small cerebral cortex, Abnormal cortical gyration, Optic atrophy, Iris coloboma, L...	ORPHA:2185
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete...	OMIM:616033
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level	OMIM:610768
Mucolipidosis Iv	Cerebral dysmyelination, Corneal opacity, Dysplastic corpus callosum, Retinal degeneration, Micro...	OMIM:252650
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Failure to thrive, Hyperinsulinemia	OMIM:606528
Lipodystrophy, Congenital Generalized, Type 4	Failure to thrive, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Elevated ci...	OMIM:613327
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy...	OMIM:604400
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure	ORPHA:871
Hyperostosis Frontalis Interna	Increased circulating prolactin concentration, Obesity, Diabetes mellitus	OMIM:144800
Long Qt Syndrome 10	Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu...	OMIM:611819
Short Syndrome	Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Weight loss, Abnormal dent...	ORPHA:3163
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac...	OMIM:194200
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Joint contracture of the hand, Flexion contracture, Small for gestational age,...	OMIM:214150
Donohue Syndrome	Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Chole...	OMIM:246200
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Failure to thrive, Neonatal hyperbilirubinemia, Small for gestational age, Truncal obesity, Hypog...	ORPHA:73272
Growth Factors, Combined Defect Of	Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin-resistant diabetes mellitus, Flexion ...	OMIM:233805
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab...	OMIM:262190
Hyperinsulinism Due To Hnf4A Deficiency	Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Abnormal...	ORPHA:263455
Childhood Disintegrative Disorder	Social and occupational deterioration, Progressive language deterioration, Mental deterioration, ...	ORPHA:168782
Solitary Fibrous Tumor/Hemangiopericytoma	Neoplasm of the liver, Hypophosphatemic rickets, Hypoinsulinemia, Abnormality of the peritoneum, ...	ORPHA:2126
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo...	OMIM:609734
Long Qt Syndrome 6	Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,...	OMIM:613693
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti...	OMIM:614021
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial...	OMIM:604772
Low Phospholipid-Associated Cholelithiasis	Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang...	ORPHA:69663
Body Mass Index Quantitative Trait Locus 20	Obesity, Hyperinsulinemia, Tall stature	OMIM:618406
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Idiopathic Neonatal Atrial Flutter	Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple...	ORPHA:45452
Temple Syndrome	Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe...	OMIM:616222
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Glycosuria, Hyperglycemia, Small for gestational age	OMIM:618857
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Diabetes mel...	OMIM:615830
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b...	OMIM:604559
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Obesity	ORPHA:369873
Polyendocrine-Polyneuropathy Syndrome	Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad...	ORPHA:453533
Blue Diaper Syndrome	Decreased circulating T4 concentration, Increased body weight, Elevated hepatic transaminase, Ele...	ORPHA:94086
Retinitis Pigmentosa	Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin, Hypogonadism, Obesity	ORPHA:791
Placental Insufficiency	Insulin resistance, Small for gestational age	ORPHA:439167
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Cortical dysplasia, Polymicrog...	ORPHA:300573
Brugada Syndrome 9	Presyncope, Palpitations, ST segment elevation, Prolonged QT interval	OMIM:616399
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, ...	ORPHA:2089
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity, Hyperinsulinemia	ORPHA:329249
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Microcephaly, Neonatal death, Abnormal cortical gyration, Polymicrogyria, Aplasia/Hypoplasia of t...	OMIM:619602
Mandibuloacral Dysplasia With Type B Lipodystrophy	Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu...	OMIM:608612
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Long Qt Syndrome 14	Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia...	OMIM:616247
Long Qt Syndrome 1	Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati...	OMIM:192500
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia...	OMIM:616117
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increa...	OMIM:615954
Autism, Susceptibility To, X-Linked 2	Lack of peer relationships, Abnormal nonverbal communicative behavior	OMIM:300495
Autosomal Recessive Spastic Paraplegia Type 66	Impaired vibration sensation in the lower limbs, Hypoplasia of the corpus callosum, Difficulty wa...	ORPHA:401815
Insulinoma	Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl...	ORPHA:97279
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Prolonged QRS complex, Prolonged P wave	OMIM:614049
Central Neurocytoma	Ataxia, Pain insensitivity, Hydrocephalus, Cerebral calcification, Paresthesia, Abnormal lateral ...	ORPHA:73256
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad...	ORPHA:66628
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Seckel Syndrome 10	Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly...	OMIM:617253
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity	ORPHA:3085
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular...	OMIM:600858
Atrial Standstill	Ventricular escape rhythm, Abnormal P wave, Flexion contracture, Atrial standstill, Palpitations,...	ORPHA:1344
Brugada Syndrome 3	J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ...	OMIM:611875
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co...	OMIM:274300
Sick Sinus Syndrome 1	Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in...	OMIM:608567
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Increased serum testosterone lev...	ORPHA:769
D-Glyceric Aciduria	Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level	ORPHA:941
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Failure to thrive, Hypoglycemia, Pancreatic hypoplasia, Diab...	OMIM:609069
Muscular Dystrophy, Becker Type	Abnormal EKG, Arrhythmia, Cardiomyopathy	OMIM:300376
Familial Short Qt Syndrome	Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At...	ORPHA:51083
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad...	ORPHA:179494
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins...	ORPHA:436182
Short Syndrome	Glucose intolerance, Lipoatrophy, Inguinal hernia, Small for gestational age, Lipodystrophy, Insu...	OMIM:269880
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone...	ORPHA:189427
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ...	OMIM:610193
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Dysplastic corpus callosum, Decreased body weight, Optic nerve hypoplasia, Microcephaly, Polymicr...	OMIM:614833
Primary Pigmented Nodular Adrenocortical Disease	Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone...	ORPHA:189439
Mandibuloacral Dysplasia With Type A Lipodystrophy	Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ...	OMIM:248370
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Generalized lipodystrophy, Calcinosis, Delayed puberty, Insulin resistance	ORPHA:90154
Galactokinase Deficiency	Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h...	ORPHA:79237
Combined Oxidative Phosphorylation Deficiency 54	Dysplastic corpus callosum, Hypoesthesia, Impaired vibratory sensation, Optic disc pallor, Retrob...	OMIM:619737
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Werner Syndrome	Slender build, Type II diabetes mellitus, Lipoatrophy, Thyroid carcinoma, Chondrocalcinosis, Lipo...	ORPHA:902
Pyruvate Dehydrogenase E1-Beta Deficiency	Ataxia, Decreased body weight, Hypoplasia of the corpus callosum, Corticospinal tract hypoplasia,...	ORPHA:255138
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Prader-Willi Habitus, Osteopenia, And Camptodactyly	Obesity, Joint contracture of the hand, Camptodactyly	OMIM:264010
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Gait imbalance, Abnormal lateral ventricle morphology, Gait ataxia, Hypoplasia of the corpus call...	ORPHA:488635
Long Qt Syndrome 15	Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte...	OMIM:616249
Adiposis Dolorosa	Obesity, Painful subcutaneous lipomas	OMIM:103200
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Impai...	OMIM:606069
Alg13-Cdg	Abnormal lateral ventricle morphology, Decreased body weight	ORPHA:324422
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Hepatomegaly, Hepatic failure, I...	ORPHA:2088
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype...	ORPHA:35878
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes...	ORPHA:90301
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Microcephaly, Peripheral axonal neuropathy, Optic disc hypoplasia, Co...	OMIM:619955
Perlman Syndrome	Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Tall stature, Inguinal hernia, Femo...	ORPHA:2849
Hypertriglyceridemia 1	Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration	OMIM:145750
Hyperlipoproteinemia, Type Iv	Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration	OMIM:144600
Pyruvate Dehydrogenase E1-Alpha Deficiency	Basal ganglia necrosis, Ataxia, Inability to walk, Cerebral atrophy, Small for gestational age, B...	ORPHA:79243
Aromatase Deficiency	Type II diabetes mellitus, Hyperlipidemia, Eunuchoid habitus, Tall stature, Hypergonadotropic hyp...	ORPHA:91
Hepatic Veno-Occlusive Disease	Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Increased body weight, Ja...	ORPHA:890
Brugada Syndrome 7	Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal...	OMIM:613120
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep...	OMIM:608594
Cardiac Arrhythmia, Ankyrin-B-Related	Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval	OMIM:600919
Cardiomyopathy, Dilated, 1Nn	Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end...	OMIM:615916
Lipodystrophy, Familial Partial, Type 7	Reduced subcutaneous adipose tissue, Glucose intolerance, Failure to thrive, Small for gestationa...	OMIM:606721
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo...	OMIM:619326
Diabetes And Deafness, Maternally Inherited	Type II diabetes mellitus, Hyperglycemia	OMIM:520000
Monosomy 13Q34	Insulin resistance, Obesity, Hepatic steatosis, Infantile hypercalcemia	ORPHA:96168
Bardet-Biedl Syndrome 2	Obesity, Hypogonadism, Diabetes mellitus	OMIM:615981
Romano-Ward Syndrome	Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo...	ORPHA:101016
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Abnormal circulating lipid concentration, Truncal obesity, Hypothyroidism, Diabe...	OMIM:616541
Silver-Russell Syndrome	Precocious puberty, Cachexia, Hyperhidrosis, Insulin resistance, Recurrent hypoglycemia, Prematur...	ORPHA:813
Subaortic Stenosis-Short Stature Syndrome	Type II diabetes mellitus, Inguinal hernia, Abnormal circulating lipid concentration, Biliary tra...	ORPHA:3191
Leprechaunism	Postprandial hyperglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Hyperinsuline...	ORPHA:508
Mehmo Syndrome	Obesity, Diabetes mellitus	ORPHA:85282
Hypothyroidism, Congenital, Nongoitrous, 6	Impaired sensitivity to thyroid hormone, Increased body mass index, Congenital hypothyroidism, In...	OMIM:614450
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Gait imbalance, Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cereb...	ORPHA:488627
Short Qt Syndrome 2	Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv...	OMIM:609621
Symptomatic Form Of Hemochromatosis Type 1	Increased circulating ferritin concentration, Testicular atrophy, Cholangiocarcinoma, Decreased s...	ORPHA:465508
Short Qt Syndrome 1	Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor...	OMIM:609620
Halothane Hepatitis	Viral hepatitis, Eosinophilia, Hepatitis, Obesity, Jaundice	OMIM:234350
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid...	OMIM:220111
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom...	OMIM:609040
Halperin-Birk Syndrome	Failure to thrive, Inability to walk, Death in childhood, Optic atrophy, Developmental cataract, ...	OMIM:618651
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ...	OMIM:269700
Adrenocortical Carcinoma	Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h...	ORPHA:1501
Combined Oxidative Phosphorylation Deficiency 12	Leukoencephalopathy, Dysplastic corpus callosum, Failure to thrive, Hypoplasia of the corpus call...	OMIM:614924
Abdominal Obesity-Metabolic Syndrome 4	Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr...	OMIM:618620
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Pituitary ...	OMIM:614963
Estrogen Resistance	Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance	OMIM:615363
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Failure to thrive, Ataxia, Hydrocephalus, Periventricular leukomalacia, Microcephaly, Retinal det...	OMIM:619833
Marbach-Rustad Progeroid Syndrome	Insulin resistance, Reduced subcutaneous adipose tissue	OMIM:619322
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Obesity, Precocious puberty, Hypercholesterolemia	ORPHA:254531
Temple Syndrome	Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t...	ORPHA:254516
Mpi-Cdg	Failure to thrive, Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypothy...	ORPHA:79319
Laurence-Moon Syndrome	Obesity, Type II diabetes mellitus, Congenital hepatic fibrosis	ORPHA:2377
Whipple Disease	Hepatomegaly, Splenomegaly, Cachexia, Hypothyroidism, Hyponatremia, Insulin resistance	ORPHA:3452
Bardet-Biedl Syndrome 9	Obesity, Truncal obesity, Hyperglycemia	OMIM:615986
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydrocephalus, Retinal dysplasia, Anencephaly, Opacification of the corneal stroma, Cortical dysp...	OMIM:615287
Atrial Fibrillation, Familial, 7	Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva...	OMIM:612240
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Alg2-Cdg	Abnormal basal ganglia MRI signal intensity, Microcephaly, Hypoplasia of the corpus callosum, Lat...	ORPHA:79326
Hsd10 Disease	Gait disturbance, Ataxia, Choreoathetosis, Abnormal social behavior	ORPHA:391417
Bardet-Biedl Syndrome 1	Abdominal obesity, Nephrogenic diabetes insipidus, Truncal obesity, Biliary tract abnormality, He...	OMIM:209900
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Glucose intolerance, Hepatomegaly, Hepatic failure, Splenomegaly, Cholestasis, Impaired glucose t...	OMIM:615630
Brugada Syndrome 6	Cardiac arrest, Ventricular fibrillation, ST segment elevation	OMIM:613119
Macrosomia Adiposa Congenita	Large for gestational age, Obesity, Eosinophilia	OMIM:248100
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Obesity, Hypogonadotropic hypogonadism, Absence of pubertal development, Diabetes mellitus	OMIM:610628
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypophosphatemia, Hepatomegaly, Glycosuria, Hypoglycemia, Large for gestational age, Elevated hep...	OMIM:616026
Congenital Left Ventricular Aneurysm	Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure	ORPHA:1055
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglyc...	OMIM:175700
Morgagni-Stewart-Morel Syndrome	Abnormality of the endocrine system, Abnormality of the thyroid gland, Hypothyroidism, Hyperurice...	ORPHA:77296
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Type II diabetes mellitus, Abnormality of the thyroid gland, Eunuchoid habitus, Hypogonadism, Obe...	ORPHA:2234
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Optic atrophy, Iris coloboma, Lissencephaly, Ventriculomegaly, Macul...	OMIM:615219
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase co...	ORPHA:264580
Peroxisome Biogenesis Disorder 6A (Zellweger)	Pachygyria, Colpocephaly	OMIM:614870
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Failure to thrive, Flexion contracture, Decreased serum iron, Hypothyroidism, Diabetes mellitus, ...	ORPHA:391372
11Q22.2Q22.3 Microdeletion Syndrome	Poor eye contact, Abnormal social behavior	ORPHA:444002
Narcolepsy 7	Obesity, Type II diabetes mellitus	OMIM:614250
Central Precocious Puberty	Premature thelarche, Isosexual precocious puberty, Overgrowth, Increased body weight, Increased c...	ORPHA:759
Fanconi Anemia, Complementation Group I	Decreased body weight, Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum, Astigma...	OMIM:609053
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Increased body weight, Hepatocellula...	ORPHA:79240
Proprotein Convertase 1/3 Deficiency	Reactive hypoglycemia, Obesity, Decreased circulating cortisol level	OMIM:600955
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co...	ORPHA:230
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Neonatal death, Dysplastic corpus callosum, Peripheral axonal neuropathy, Developmental cataract	OMIM:618810
Bangstad Syndrome	Primary gonadal insufficiency, Goiter, Insulin-resistant diabetes mellitus, Small for gestational...	OMIM:210740
Autosomal Recessive Cutis Laxa Type 2A	Ataxia, Dysplastic corpus callosum, Inability to walk, Abnormal cornea morphology, Dilated fourth...	ORPHA:357058
Gitelman Syndrome	Neoplasm of the pancreas, Glucose intolerance, Failure to thrive, Type II diabetes mellitus, Grav...	ORPHA:358
Dopa-Responsive Dystonia	Inability to walk, Abnormal social behavior, Fatigable weakness, Gait disturbance, Difficulty wal...	ORPHA:255
Unilateral Focal Polymicrogyria	Mental deterioration, Abnormal nonverbal communicative behavior, Memory impairment	ORPHA:268947
Alstrom Syndrome	Hyperinsulinemia, Hepatomegaly, Decreased response to growth hormone stimulation test, Chronic ac...	OMIM:203800
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Microcephaly, Death in childhood, Dysplastic corpus callosum, Failure to thrive	OMIM:604273
Pontocerebellar Hypoplasia Type 2	Dysplastic corpus callosum, Abnormal cortical gyration, Hypoplasia of the corpus callosum, Choreo...	ORPHA:2524
Autism, Susceptibility To, 3	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:608049
Combined Oxidative Phosphorylation Deficiency 53	Failure to thrive, Dysplastic corpus callosum, Death in childhood, Death in infancy, Secondary mi...	OMIM:619423
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia, Flexion contracture	ORPHA:90153
Dysbetalipoproteinemia	Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, H...	ORPHA:412
Brugada Syndrome 5	Bundle branch block, ST segment elevation, Ventricular fibrillation	OMIM:612838
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hepatic failure, Steatorrhea, Cir...	OMIM:602579
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism	Dysplastic corpus callosum	OMIM:601016
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block	OMIM:609438
Bloom Syndrome	Abdominal obesity, Small for gestational age, Adipose tissue loss, Diabetes mellitus, Insulin res...	ORPHA:125
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Small for gestational age, Maturity-onset diabetes of the young, Truncal obes...	ORPHA:96184
Kapur-Toriello Syndrome	Failure to thrive, Dysplastic corpus callosum, Retinal coloboma, Polymicrogyria, Iris coloboma, P...	ORPHA:2328
Multiple Endocrine Neoplasia Type 4	Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A...	ORPHA:276152
Combined Oxidative Phosphorylation Defect Type 39	Loss of ambulation, Cerebral atrophy, Tip-toe gait, Decreased nerve conduction velocity, Microcep...	ORPHA:565624
Cach Syndrome	Optic neuritis, Dysgyria, Cerebral atrophy, Dysmetria, Limb ataxia, Microcephaly, Truncal ataxia,...	ORPHA:135
Estrogen Resistance Syndrome	Glucose intolerance, Hyperinsulinemia, Tall stature, Absence of pubertal development, Absence of ...	ORPHA:785
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Small basal ganglia, Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callo...	OMIM:616900
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni...	OMIM:619489
Anterior Segment Dysgenesis 8	Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca...	OMIM:617319
Autosomal Recessive Spastic Paraplegia Type 11	Ataxia, Inability to walk, Frontal cortical atrophy, Cerebral cortical atrophy, Retinal degenerat...	ORPHA:2822
Bangstad Syndrome	Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp...	ORPHA:1227
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormal basal ganglia morphology, Inability to walk, Small basal ganglia, Normal pressure hydroc...	ORPHA:300570
Malan Overgrowth Syndrome	Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Optic disc pallor, Ventriculomeg...	ORPHA:420179
Unilateral Hemispheric Polymicrogyria	Cerebral hypoplasia, Cortical dysplasia, Lateral ventricle dilatation, Thick cerebral cortex	ORPHA:101071
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Failure to thrive, Precocious puberty, Decreased response to growth hormone stimulation test, Sma...	ORPHA:96182
Atrial Fibrillation, Familial, 14	Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation	OMIM:615378
Mitchell-Riley Syndrome	Annular pancreas, Hyperbilirubinemia, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent...	OMIM:615710
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Cerebral atrophy, Tip-toe gait, Dilated third ventricle, Astigmatism, Partial agenesis of the cor...	OMIM:617296
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia, Cholestatic liver disease, Inguinal hernia, Flexion contracture, Stea...	ORPHA:440713
Congenital Analbuminemia	Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop...	ORPHA:86816
Necrotizing Enterocolitis	Small for gestational age, Peritonitis, Hyponatremia, Abnormal glucose homeostasis, Hyperglycemia	ORPHA:391673
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Lower-limb joint contracture, Glycosuria, Neonatal insulin-dependent diabetes ...	ORPHA:99885
X-Linked Acrogigantism	Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h...	ORPHA:300373
Early-Onset Autosomal Dominant Alzheimer Disease	Abnormal social behavior, Dementia, Memory impairment, Semantic dementia	ORPHA:1020
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Simplified gyral pattern, Microcephaly, Dysplastic corpus callosum, Failure to thrive	OMIM:620001
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Adrenocortical adenoma, Episodic hypokalemia, Mildly elevated creatin...	ORPHA:681
Wilson Disease	Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis,...	ORPHA:905
Acrodysostosis 2 With Or Without Hormone Resistance	Obesity, Congenital hypothyroidism, Diabetes mellitus	OMIM:614613
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep...	ORPHA:209902
Bardet-Biedl Syndrome 6	Obesity, Diabetes mellitus	OMIM:605231
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Abnormal EKG	OMIM:178650
Attrv122I Amyloidosis	Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Arrhythmia...	ORPHA:85451
Coronary Arterial Fistula	Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur...	ORPHA:2041
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Hypoalbuminemia	ORPHA:88643
Smith-Kingsmore Syndrome	Hypoglycemia, Large for gestational age, Umbilical hernia	OMIM:616638
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, V...	OMIM:619179
9Q31.1Q31.3 Microdeletion Syndrome	Type II diabetes mellitus, Overweight, Hypercholesterolemia	ORPHA:401923
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:618619
Cardiogenic Shock	Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press...	ORPHA:97292
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Pancreatic Agenesis 1	Failure to thrive, Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitu...	OMIM:260370
Severe X-Linked Intellectual Disability, Gustavson Type	Small for gestational age, Microcephaly, Dilated fourth ventricle, Optic atrophy, Lateral ventric...	ORPHA:3078
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Difficulty walking, Shyness	ORPHA:280763
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation, Difficulty walking, Cerebral cortical hemiatrophy	ORPHA:306669
Beta-Ketothiolase Deficiency	Hepatomegaly, Hyperammonemia, Hypoglycemia, Hyperuricemia, Weight loss, Hyperglycemia	ORPHA:134
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Lissencephaly, Primary microceph...	ORPHA:284417
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Pituitary Adenoma 4, Acth-Secreting	Abdominal obesity, Glucose intolerance, Pituitary adenoma, Hypokalemia, Increased circulating ACT...	OMIM:219090
Wars2-Related Combined Oxidative Phosphorylation Defect	Leukoencephalopathy, Ataxia, Cerebral atrophy, Dysmetria, Rod-cone dystrophy, Dilated fourth vent...	ORPHA:572798
Tropical Endomyocardial Fibrosis	Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric...	ORPHA:75565
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestational age, Ele...	ORPHA:226313
X-Linked Parkinsonism-Spasticity Syndrome	Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation, Scissor gait	ORPHA:363654
Oculocerebrodental Syndrome	Dysplastic corpus callosum, Developmental cataract, Focal white matter lesions	ORPHA:557003
Hypothyroidism, Central, With Testicular Enlargement	Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Reduced circulating prol...	OMIM:300888
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Microcephaly, Colpocephaly, Polymicrogyria	OMIM:618731
Autosomal Dominant Non-Syndromic Intellectual Disability	Leukoencephalopathy, Cerebral atrophy, Microcephaly, Chorea, Hypoplasia of the corpus callosum, A...	ORPHA:178469
Slc35A2-Cdg	Inability to walk, Cerebral atrophy, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus c...	ORPHA:356961
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Splenomegaly	ORPHA:66518
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL...	ORPHA:98855
Pyruvate Carboxylase Deficiency	Failure to thrive, Hyperlysinemia, Hepatomegaly, Hyperammonemia, Increased serum pyruvate, Hypera...	ORPHA:3008
Atypical Werner Syndrome	Failure to thrive, Hyperinsulinemia, Type II diabetes mellitus, Decreased body weight, Lipoatroph...	ORPHA:79474
Resistance To Thyrotropin-Releasing Hormone Syndrome	Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Decreased ci...	ORPHA:99832
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Obesity, Pseudoh...	OMIM:603233
Hypogonadotropic Hypogonadism 27 Without Anosmia	Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration...	OMIM:619755
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Absent septum pellucidum, Microcephaly, Pigmentary retinopathy, Peters anomaly, Ir...	OMIM:309801
Female Restricted Epilepsy With Intellectual Disability	Abnormal social behavior	ORPHA:101039
Cushing Disease	Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, In...	ORPHA:96253
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Lateral ventricle dilatation	ORPHA:77299
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypothyroidism, Hypopituitarism, Hyperglycemia, Hypercholesterolemia	ORPHA:90065
Pseudohypoparathyroidism, Type Ic	Elevated circulating parathyroid hormone level, Enamel hypoplasia, Hypothyroidism, Hypocalcemic t...	OMIM:612462
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Failure to thrive, Abnormal basal ganglia morphology, Subretinal deposits, Open operculum, Dilate...	ORPHA:397715
Sotos Syndrome	Glucose intolerance, Tall stature, Overgrowth, Prolonged neonatal jaundice, Neonatal hypoglycemia...	OMIM:117550
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Hypomagnesemia, Graves disease, Hyperthyroidism, Episodic hypokalemia...	ORPHA:79102
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Prolonged ne...	ORPHA:226307
Smith-Magenis Syndrome	Hypertriglyceridemia, Increased body weight, Abnormality of the thyroid gland, Hypercholesterolemia	OMIM:182290
Steinert Myotonic Dystrophy	Secondary hyperparathyroidism, Cholelithiasis, Testicular atrophy, Hyperinsulinemia, Decreased se...	ORPHA:273
Magel2-Related Prader-Willi-Like Syndrome	Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Precocious puberty, Flexion cont...	ORPHA:398069
Basel-Vanagaite-Smirin-Yosef Syndrome	Inability to walk, Cerebral atrophy, Cavum septum pellucidum, Microcephaly, Dilated third ventric...	ORPHA:464738
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Thick corpus callosum, Dysplastic corpus callosum, Dilated third ventricle, Large for gestational...	ORPHA:544488
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Small for gestational age, Overgrowth, Large for gestational age, Umbilical hernia, Omphalocele	ORPHA:254534
Sheehan Syndrome	Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac...	ORPHA:91355
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in...	ORPHA:98754
Sim1-Related Prader-Willi-Like Syndrome	Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Precocious puberty, Small pituit...	ORPHA:398079
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Cavum septum pellucidum, Astigmatism, Abnormal cerebral white matter morphology, Lateral ...	ORPHA:457279
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in...	ORPHA:98793
Heart Defects, Congenital, And Other Congenital Anomalies	Failure to thrive, Congenital diaphragmatic hernia, Inguinal hernia, Biliary atresia, Glycosuria,...	OMIM:600001
Cerebrofacioarticular Syndrome	Ataxia, Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, Ventriculome...	ORPHA:314679
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in...	ORPHA:177901
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Female hypogonadism, Delayed menarche, Pubertal developmental failure i...	ORPHA:740
Cushing Syndrome Due To Ectopic Acth Secretion	Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car...	ORPHA:99889
Lamb-Shaffer Syndrome	Ataxia, Abnormal social behavior	ORPHA:530983
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Astigmatism, Ventriculomegaly, Colpoce...	ORPHA:261250
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Colpocephaly, Agenesis of corp...	OMIM:617260
Distal Monosomy 10Q	Facial diplegia, Failure to thrive, Ataxia, Cavum septum pellucidum, Microcephaly, Astigmatism, L...	ORPHA:96148
Alström Syndrome	Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Hypergo...	ORPHA:64
Dend Syndrome	Elevated hemoglobin A1c, Hyperglycemia	ORPHA:79134
Khan-Khan-Katsanis Syndrome	Corneal scarring, Failure to thrive, Buphthalmos, Microcephaly, Pigmentary retinopathy, Peters an...	OMIM:618460
Septo-Optic Dysplasia Spectrum	Abnormality of the hypothalamus-pituitary axis, Maternal diabetes, Hypohidrosis, Obesity, Anterio...	ORPHA:3157
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Adrenocorticotropic hormone deficiency, Hyperlipidemia, Decreased response to growth hormone stim...	ORPHA:293987
Gaisböck Syndrome	Hyperproteinemia, Increased circulating renin level, Cholecystitis, Hypertriglyceridemia, Hyperur...	ORPHA:90041
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Partial agenesis of the corpus callosum, Microcephaly, Dysplastic corpus callosum, Focal polymicr...	OMIM:619103
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation, Microcephaly, Diffuse white matter abnormalities, Hypoplasia of the...	ORPHA:208447
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Abnormal caudate nucleus morphology, Hypoplasia of the corpus callosum, Cerebral white matter atr...	ORPHA:2148
Metachromatic Leukodystrophy, Adult Form	Progressive psychomotor deterioration, Abnormal social behavior, Memory impairment, Difficulty wa...	ORPHA:309271
Pmm2-Cdg	Failure to thrive, Multiple joint contractures, Hyperinsulinemia, Elevated circulating growth hor...	ORPHA:79318
Spondyloenchondrodysplasia	Cerebral calcification, Chorea, Abnormal periventricular white matter morphology, Ventriculomegal...	ORPHA:1855
Tonne-Kalscheuer Syndrome	Broad-based gait, Shyness	OMIM:300978
Prader-Willi Syndrome	Abdominal obesity, Adrenal insufficiency, Hyperinsulinemia, Type II diabetes mellitus, Precocious...	OMIM:176270
Craniopharyngioma	Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Hypogonadotro...	ORPHA:54595
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Obesity, Precocious puberty, Type I diabetes mellitus, Dentinogenesis imperfecta	OMIM:619269
Chromosome Xp11.23-P11.22 Duplication Syndrome	Shyness	OMIM:300801
Cog5-Cdg	Microcephaly, Truncal ataxia, Cerebral white matter atrophy, Diffuse cerebral atrophy, Lateral ve...	ORPHA:263487
6Q Terminal Deletion Syndrome	Failure to thrive, Dysmetria, Polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebra...	ORPHA:75857
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight	OMIM:300860
Metachromatic Leukodystrophy, Juvenile Form	Progressive gait ataxia, Progressive psychomotor deterioration, Abnormal social behavior	ORPHA:309263
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Ventriculomegaly	ORPHA:363444
Holoprosencephaly 13, X-Linked	Optic nerve hypoplasia, Microcephaly, Septo-optic dysplasia, Colpocephaly, Agenesis of corpus cal...	OMIM:301043
Woodhouse-Sakati Syndrome	Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon...	ORPHA:3464
Mosaic Trisomy 1	Lateral ventricle dilatation, Opacification of the corneal stroma, Agenesis of corpus callosum, P...	ORPHA:1692
Metachromatic Leukodystrophy, Late Infantile Form	Tip-toe gait, Gait ataxia, Progressive gait ataxia, Abnormal social behavior	ORPHA:309256
Early-Onset Schizophrenia	Lack of peer relationships, No social interaction, Shyness, Cognitive impairment	ORPHA:96369
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation, Microcephaly	ORPHA:85290
X-Linked Intellectual Disability, Cilliers Type	Shyness	ORPHA:163971
Acrodysostosis With Multiple Hormone Resistance	Elevated calcitonin, Hypocalcemia, Decreased response to growth hormone stimulation test, Elevate...	ORPHA:280651
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:618569
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Absent septum pellucidum, Polymicrogyria, Astigmatism, Secondary micr...	OMIM:618820
Beckwith-Wiedemann Syndrome	Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Congenital diaphra...	ORPHA:116
Turner Syndrome Due To Structural X Chromosome Anomalies	Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Cholestatic liver disease, Hype...	ORPHA:99413
Turner Syndrome	Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Cholestatic liver disease, Hype...	ORPHA:881
Mosaic Monosomy X	Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Cholestatic liver disease, Hype...	ORPHA:99228
Monosomy X	Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Cholestatic liver disease, Hype...	ORPHA:99226
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Overfriendliness, Ataxia	ORPHA:369891
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m...	ORPHA:293725
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Exocrine pancreatic insufficiency, Hepatomegaly, He...	OMIM:619991
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Scorpion Envenomation	Hypokalemia, Increased circulating NT-proBNP concentration, Elevated circulating aspartate aminot...	ORPHA:466677
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Dysmetria, Abnormal social behavior, Nonprogressive cerebellar ataxia, Memory impairment,...	ORPHA:314647
Blepharophimosis-Impaired Intellectual Development Syndrome	Overfriendliness	OMIM:619293
Smith-Lemli-Opitz Syndrome	Failure to thrive, Hydrocephalus, Hypoplasia of the frontal lobes, Microcephaly, Hypoplasia of th...	OMIM:270400
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Impaired social interactions, Poor eye contact, Shyness	ORPHA:449291
Childhood Absence Epilepsy	Abnormal social behavior	ORPHA:64280
Cri-Du-Chat Syndrome	Overfriendliness, Difficulty walking	OMIM:123450
Fg Syndrome Type 1	Broad-based gait, Abnormal social behavior	ORPHA:93932
48,Xxxy Syndrome	Abnormal social behavior	ORPHA:96263
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Overfriendliness, Gait ataxia	OMIM:616579
Carney Complex	Abdominal obesity, Increased circulating insulin-like growth factor 1 concentration, Pituitary gr...	ORPHA:1359
Zttk Syndrome	Failure to thrive, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Optic atrophy, ...	OMIM:617140
Choreoacanthocytosis	Loss of ambulation, Cerebral cortical atrophy, Frontal cortical atrophy, Small basal ganglia, Abn...	ORPHA:2388
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Dysplastic corpus callosum, Progressive ventriculomegaly, Optic nerve hypoplasia, Polymicrogyria,...	ORPHA:500150
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypothyroidism, Obesity, Decreased response to growth hormone stimulation test, Hyperglycemia	ORPHA:444077
49,Xxxxy Syndrome	Overfriendliness, Shyness	ORPHA:96264
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Thick corpus callosum, Ataxia, Dysplastic corpus callosum, Slender build	OMIM:300967
Niemann-Pick Disease Type C	Ataxia, Abnormal social behavior, Mental deterioration, Cognitive impairment, Progressive neurolo...	ORPHA:646
Prader-Willi Syndrome Due To Translocation	Cerebral cortical atrophy, Stellate iris, Microcephaly, Iris hypopigmentation, Lateral ventricle ...	ORPHA:177907
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Inability to walk, Large basal ganglia, Microcornea, Hypoplasia of the corpus callosum, Polymicro...	ORPHA:261552
White-Sutton Syndrome	Overfriendliness, Waddling gait	OMIM:616364
Luscan-Lumish Syndrome	Shyness	OMIM:616831
White-Kernohan Syndrome	Obesity, Dysplastic corpus callosum	OMIM:619426
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Slender build, Failure to thrive, Ataxia, Dysplastic corpus callosum, Hypoplasia of the corpus ca...	ORPHA:466791
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Failure to thrive, Inability to walk, Aganglionic megacolon, Large basal gangli...	ORPHA:261537
Koolen-De Vries Syndrome	Overfriendliness	ORPHA:96169
Dihydropyrimidine Dehydrogenase Deficiency	Inability to walk, Abnormal social behavior	ORPHA:1675
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Cerebral white matter hypoplasia, Colpocephaly, Hypoplasia of the corpus callosum	ORPHA:477993
Trichotillomania	Hair-pulling	OMIM:613229
Witteveen-Kolk Syndrome	Dysplastic corpus callosum, Small for gestational age, Microcephaly, Anisocoria, Cortical dysplas...	OMIM:613406
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal nonverbal communicative behavior	ORPHA:485421
Hellp Syndrome	Increased body weight, Elevated hepatic transaminase	ORPHA:244242
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Corneal scarring, Failure to thrive, Cataract, Obesity, Abnormal lateral ventricle morphology, Se...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Corneal scarring, Failure to thrive, Cataract, Obesity, Abnormal lateral ventricle morphology, Se...	ORPHA:353277
Genitopatellar Syndrome	Microcephaly, Colpocephaly, Agenesis of corpus callosum	OMIM:606170
Trichothiodystrophy	Impaired social reciprocity, Gait ataxia	ORPHA:33364
Koolen-De Vries Syndrome Due To A Point Mutation	Overfriendliness, Abnormal social behavior	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Overfriendliness, Abnormal social behavior	ORPHA:363958
Orofaciodigital Syndrome V	Overfriendliness	OMIM:174300
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Hair-pulling	OMIM:616393
Mend Syndrome	Abnormal social behavior	ORPHA:401973
Van Esch-O'Driscoll Syndrome	Poor eye contact, Shyness	OMIM:301030
Williams Syndrome	Overfriendliness, Gait imbalance, Ataxia, Dysmetria, Abnormal social behavior, Gait disturbance	ORPHA:904
1P21.3 Microdeletion Syndrome	Shyness	ORPHA:293948
Tuberous Sclerosis Complex	Abnormal social behavior	ORPHA:805
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hair-pulling	ORPHA:447997
Monosomy 22Q13.3	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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