banner
Genes Phenotypes Help, News, Blog

Gene: Ffar3 MGI:2685324

Log in to follow

Gene Summary

Name:
free fatty acid receptor 3
Synonyms:
Gpr41,  LOC233080

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
microphthalmia Ffar3em1(IMPC)Mbp HOM Early adult 0.00
small liver Ffar3em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Ffar3em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Ffar3em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Ffar3em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Ffar3em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

48 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

16 Images

View images

Human diseases caused by Ffar3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Ffar3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... OMIM:619902
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... OMIM:615382
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Arrhythmia, Abnormal autonomic nervous system physiology, Hypothermia, Cardiac arrest ORPHA:168593
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Idiopathic Congenital Hypothyroidism
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... ORPHA:95717
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... ORPHA:85445
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restricti... OMIM:601419
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly ORPHA:2432
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... ORPHA:95716
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Optic atrophy, Abnormal autonomic nervous system physiology, Hypothermia OMIM:614498
Meckel Syndrome, Type 8
Anophthalmia, Polycystic kidney dysplasia, Microphthalmia, Hyperechogenic kidneys, Enlarged kidney OMIM:613885
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... ORPHA:101016
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... ORPHA:324575
Pure Autonomic Failure
Orthostatic hypotension, Syncope, Abnormality of circulating catecholamine level, Abnormal autono... ORPHA:441
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... ORPHA:276608
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert... OMIM:208540
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyro... ORPHA:226313
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hyp... ORPHA:276580
Congenital Heart Block
Cyanosis, First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atriovent... ORPHA:60041
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Timothy Syndrome
Prolonged QT interval, Hypothermia, Ventricular tachycardia, Atrioventricular block, Bradycardia,... OMIM:601005
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Hypothermia OMIM:614654
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal autonomic nervous system ... ORPHA:330001
Primary Erythromelalgia
Vasculitis, Hypothermia ORPHA:90026
Tetanus
Fever, Tachycardia, Hypertension, Bradycardia, Abnormal autonomic nervous system physiology, Auto... ORPHA:3299
Spontaneous Periodic Hypothermia
Arrhythmia, Hypothermia ORPHA:29822
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Mitochondrial Complex I Deficiency, Nuclear Type 13
Fever, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pancreatic cys... ORPHA:730
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hypoglycemia, Hyperins... ORPHA:276575
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Gombo Syndrome
Microphthalmia OMIM:233270
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... OMIM:619326
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Hypothermia, Reduced left ventricular ejection fra... OMIM:616501
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... OMIM:605373
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased ra... ORPHA:90673
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Simplified gyral pattern, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Cardiac arrest, Hypoxemia, Bradycardia, Hypotension ORPHA:70587
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... OMIM:168000
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Ectopic kidney, Cystic renal dysplasia, Hepatomegaly OMIM:613730
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... ORPHA:280356
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty OMIM:616033
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Cln3 Disease
T-wave inversion, Optic atrophy, Bradycardia, Increased circulating androgen concentration ORPHA:228346
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypothermia, Hyperinsulinemia, Syncope, Orthostatic syncope ORPHA:230
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Simplified gyral pattern, Bradycardia, Atrioventricular block OMIM:614407
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Hypothermia, Bradycardia, Hypertrophic cardiomyopathy OMIM:618775
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Hypothermia, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia ORPHA:159
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Hypothermia, Pituitary hypothyroidism, Bradycardia, ... ORPHA:90674
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Intermittent hypothermia, Reduced circulating prola... OMIM:223360
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Meningococcal Meningitis
Shock, Papilledema, Fever, Hypothermia, Hypotension ORPHA:33475
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Hypothermia, Increased circulating free fatty acid level, Dil... ORPHA:26793
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem... ORPHA:276556
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Nanophthalmos
Microphthalmia ORPHA:35612
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys... OMIM:608836
Riboflavin Deficiency
Hypothermia OMIM:615026
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Diabetes mellitus, Abnormality of the thyroid gland, Cardiomyopathy, Hypogonadism, Bradycardia, A... OMIM:609286
Cat-Eye Syndrome
Microphthalmia, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... OMIM:604367
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Cyanosis, Facial palsy, Hypotherm... ORPHA:31826
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomer... OMIM:232200
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia, Hypothermia OMIM:608800
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia OMIM:120433
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Neph... OMIM:232220
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Optic atrophy, Bradycardia OMIM:614702
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Ketonuria, Renal hypoplasia, Hepatomegaly OMIM:619053
Nanophthalmos 4
Microphthalmia OMIM:615972
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i... ORPHA:552
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome... OMIM:276700
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... OMIM:608022
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... ORPHA:85451
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Microphthalmia, Hepati... OMIM:618805
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Illum Syndrome
Temperature instability, Bradycardia OMIM:208155
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... OMIM:218700
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Neuroleptic Malignant Syndrome
Fever, Tachycardia, Hypothermia, Pulmonary embolism, Hypertension, Bradycardia, Abnormal autonomi... ORPHA:94093
Alexander Disease
Diabetes mellitus, Facial palsy, Sudden cardiac death, Hypothermia, Precocious puberty, Hypertens... ORPHA:58
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Abnormal autonomic nervous system physiology, Atrioventricular block ORPHA:85447
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Microphthalmia ORPHA:858
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... ORPHA:439232
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarge... OMIM:200995
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:611561
Sheehan Syndrome
Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc... ORPHA:91355
Matthew-Wood Syndrome
Anophthalmia, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal sp... ORPHA:2470
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... OMIM:617303
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus ORPHA:3085
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:603373
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Uraciluria OMIM:274270
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia OMIM:245400
Persistent Idiopathic Facial Pain
Abnormal autonomic nervous system physiology ORPHA:398147
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the blad... ORPHA:2547
Biemond Syndrome Type 2
Microphthalmia, Hypospadias ORPHA:141333
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Glycosuria, Hyperinsul... ORPHA:263455
Menkes Disease
Intracranial hemorrhage, Hypothermia OMIM:309400
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Neona... ORPHA:293964
Glossopharyngeal Neuralgia
Cranial nerve compression, Jaw claudication, Abnormal glossopharyngeal nerve morphology, Syncope,... ORPHA:221098
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat... OMIM:261740
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Optic atrophy, Hypothermia OMIM:618493
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormal auditory evoked potentials, Hypothermia, Abnormal autonomic ner... ORPHA:99027
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Malignant Hyperthermia, Susceptibility To, 5
Fever, Tachycardia, Malignant hyperthermia, Hypercapnia OMIM:601887
Congenital Enterovirus Infection
Fever, Hypothermia, Myocarditis, Cardiomyopathy, Hypotension ORPHA:292
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... OMIM:600955
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Hyperinsulinemia, ... OMIM:613327
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Mmep Syndrome
Microphthalmia ORPHA:3434
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsulinemia, Insulin-... ORPHA:2298
Joubert Syndrome 22
Microphthalmia, Renal hypoplasia OMIM:615665
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia ORPHA:363400
Riboflavin Transporter Deficiency
Optic disc pallor, Facial palsy, Hypertension, Hypogonadism, Abnormal autonomic nervous system ph... ORPHA:97229
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Sepsis In Premature Infants
Fever, Tachycardia, Cyanosis, Bradycardia, Hypotension, Temperature instability ORPHA:90051
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Optic atrophy, Hypothermia OMIM:618329
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Unilateral microphthalmos OMIM:615085
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Fever, Cyanosis, Decreased response to growth hormone stimulation test, Central diabetes insipidu... ORPHA:293987
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Cholecy... ORPHA:449395
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria, Bradycardia, Cerebral hemorrhage OMIM:617397
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ... OMIM:130650
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Seckel Syndrome 2
Microphthalmia, Hypospadias, Ectopic kidney OMIM:606744
Necrotizing Enterocolitis
Shock, Temperature instability, Bradycardia, Hypotension ORPHA:391673
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... ORPHA:300373
Combined Oxidative Phosphorylation Defect Type 39
Decreased nerve conduction velocity, Optic disc pallor, Bradycardia ORPHA:565624
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Multiple renal cy... ORPHA:464329
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Cardiac arrest, Hypothermia, Dilated cardiomyopathy, Hypotension ORPHA:20
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia ORPHA:40366
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:603194
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Bresek Syndrome
Hypoplasia of the bladder, Optic nerve hypoplasia, Renal hypoplasia, Vesicoureteral reflux, Micro... ORPHA:85284
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia, Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:613870
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... ORPHA:280365
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Hepatocellular adenoma, Stage 5 chronic kidney disease, Nephrolithiasi... ORPHA:79259
D-Glyceric Aciduria
Bradycardia, Optic nerve hypoplasia OMIM:220120
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Tbck-Related Intellectual Disability Syndrome
Neurogenic bladder, Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypot... ORPHA:488632
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po... OMIM:246200
Joubert Syndrome 37
Microphthalmia, Micropenis, Hydronephrosis, Hepatomegaly OMIM:619185
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:613239
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia ORPHA:1473
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha... OMIM:617914
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney OMIM:619318
Mitchell Syndrome
Abnormal autonomic nervous system physiology OMIM:618960
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Cardiac conduction abnormality, Hypothermia, Dilated cardiomyopathy, Optic atrophy, Hypert... ORPHA:255210
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia ORPHA:79237
Von Hippel-Lindau Disease
Papilledema, Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Pancreatic endocr... ORPHA:892
Parkinsonism-Dystonia 2, Infantile-Onset
Temperature instability, Abnormal autonomic nervous system physiology OMIM:618049
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Multiple System Atrophy
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... ORPHA:102
Wolfram Syndrome, Mitochondrial Form
Diabetes mellitus, Optic atrophy, Abnormal autonomic nervous system physiology, Diabetes insipidus OMIM:598500
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Fever, Hyperpyrexia, Tachycardia, Retinal hemorrhage, Hypertension, Bradycardia OMIM:614653
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Peripartum Cardiomyopathy
Tachycardia, Diabetes mellitus, Abnormality of thyroid physiology, Right ventricular failure, Car... ORPHA:563
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Cofs Syndrome
Microphthalmia ORPHA:1466
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Multiple System Atrophy, Parkinsonian Type
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... ORPHA:98933
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Acquired Methemoglobinemia
Tachycardia, Cyanosis, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
H Syndrome
Micropenis, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly ORPHA:168569
Pierpont Syndrome
Microphthalmia, Micropenis OMIM:602342
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:611134
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level OMIM:610768
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst OMIM:618188
Congenital Generalized Lipodystrophy
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Precocious puberty in females ORPHA:528
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Hepatic cysts, Ureteral hypoplasia, Periportal fibrosis,... ORPHA:79328
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia OMIM:620351
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellit... OMIM:608594
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... ORPHA:505248
High Altitude Pulmonary Edema
Hypoxemia, Fever, Tachycardia, Cyanosis ORPHA:330012
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Encephalitis Lethargica
Fever, Bradycardia ORPHA:83600
Erythermalgia, Primary
Palpitations, Abnormal autonomic nervous system physiology OMIM:133020
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypothermia, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Optic atrophy, Pulm... ORPHA:79282
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia, Portal hypertension OMIM:251880
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Mandibuloacral Dysplasia
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Fever, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimo... ORPHA:83601
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Pierpont Syndrome
Microphthalmia ORPHA:487825
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Aromatic L-Amino Acid Decarboxylase Deficiency
Temperature instability, Intermittent hypothermia, Hypotension OMIM:608643
Central Hypoventilation Syndrome, Congenital, 1
Abnormality of temperature regulation, Aganglionic megacolon, Decreased heart rate variability, H... OMIM:209880
Marburg Hemorrhagic Fever
Shock, Fever, Tachycardia, Pericarditis, Hypothermia, Hypovolemia, Capillary leak, Subconjunctiva... ORPHA:99826
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Nephroblastoma OMIM:602501
Lujo Hemorrhagic Fever
Shock, Fever, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Decreased circulating cortisol level, Optic atrophy, Adrenocorticotropin... OMIM:231550
Multiple System Atrophy, Cerebellar Type
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... ORPHA:227510
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Biliary tract abnormality ORPHA:3191
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... OMIM:269700
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Abnormal pancreas morphology, Ves... ORPHA:116
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hemoperitoneum, Bra... ORPHA:99827
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Horseshoe kidney, Abdomina... OMIM:306955
Trisomy 13
Anophthalmia, Displacement of the urethral meatus, Abnormality of the ureter, Aplasia/Hypoplasia ... ORPHA:3378
Combined Oxidative Phosphorylation Deficiency 39
Type I diabetes mellitus, Pachygyria, Simplified gyral pattern, Sinus bradycardia OMIM:618397
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney OMIM:252500
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Proximal Spinal Muscular Atrophy
Facial diplegia, Bradycardia ORPHA:70
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype... OMIM:301500
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Vesicouret... OMIM:609053
Gracile Bone Dysplasia
Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic spleen OMIM:602361
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Congenital Fibrinogen Deficiency
Splenic rupture, Left ventricular hypertrophy, Microphthalmia, Micropenis, Right ventricular hype... ORPHA:335
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglyc... ORPHA:71212
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Microphthalmia, Renal hypoplasia, Unilateral renal agenesis OMIM:618494
Rabson-Mendenhall Syndrome
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... ORPHA:769
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Recurrent fever, Sinus bradycardia OMIM:261990
Sarcoidosis
Fever, Abnormal cardiac ventricular function, Hyperthyroidism, Diabetes insipidus, Facial palsy, ... ORPHA:797
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Hypothermia, Syncope, Recurrent fever, Unex... ORPHA:642
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cyanosis, Cardiac shunt, Maternal diabetes, Congestive heart failure, Left ventricul... ORPHA:860
Meacham Syndrome
Accessory spleen, Enlarged kidney, Horseshoe kidney OMIM:608978
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertrophic cardiomyopathy, Hypothermia ORPHA:17
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Fever, Atrial flutter, Tachycardia, Atrial fibrillation, Cyanosis... ORPHA:137675
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ... OMIM:614105
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Renal hypoplasia OMIM:618914
Leukodystrophy, Hypomyelinating, 12
Neurogenic bladder, Optic atrophy, Abnormal autonomic nervous system physiology, Temperature inst... OMIM:616683
Variant Abeta2M Amyloidosis
Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology ORPHA:314652
Ring Chromosome 10 Syndrome
Microphthalmia, Renal hypoplasia/aplasia ORPHA:1438
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney ORPHA:508
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Lissencephaly 8
Microphthalmia OMIM:617255
Temtamy Syndrome
Microphthalmia ORPHA:1777
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hyperthyroidism, Palpitations, Goiter OMIM:188580
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Micropenis OMIM:610756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Ogden Syndrome
Global glomerulosclerosis, Cardiomegaly, Microvesicular hepatic steatosis, Jaundice, Macrovesicul... OMIM:300855
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Cyanosis, Right ventricular failure, Third heart ... ORPHA:1329
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:609152
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Melkersson-Rosenthal Syndrome
Fever, Abnormal autonomic nervous system physiology, Facial palsy ORPHA:2483
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Fanconi Anemia, Complementation Group R
Microphthalmia, Pelvic kidney OMIM:617244
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Microphthalmia OMIM:612379
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney ORPHA:500095
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia ORPHA:79086
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Hypertension, Acrocyanosis, Recurrent fever OMIM:223900
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia OMIM:602579
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:243180
Microphthalmia, Syndromic 5
Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Menkes Disease
Intracranial hemorrhage, Gastrointestinal hemorrhage, Hypothermia ORPHA:565
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Cardiomegaly OMIM:618652
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia, Hypospadias ORPHA:77298
Refsum Disease
Splenomegaly, Microphthalmia, Renal insufficiency ORPHA:773
Rett Syndrome
Failure to thrive, Cholecystitis, Increased serum leptin ORPHA:778
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr... ORPHA:85443
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux OMIM:120200
Porphyria Variegata
Tachycardia, Neurogenic bladder, Hypertension, Abnormal autonomic nervous system physiology, Inap... ORPHA:79473
Cardiac-Urogenital Syndrome
Accessory spleen, Hepatopulmonary fusion, Enlarged kidney, Patent urachus, Micropenis, Penoscrota... OMIM:618280
Mosaic Trisomy 9
Hypoplasia of penis, Asplenia, Horseshoe kidney, Hydronephrosis, Abnormal liver lobulation, Multi... ORPHA:99776
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... OMIM:176270
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna OMIM:615873
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasi... ORPHA:2538
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Cat Eye Syndrome
Renal agenesis, Biliary atresia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia, Hydrone... OMIM:115470
Rere-Related Neurodevelopmental Syndrome
Vesicoureteral reflux, Microphthalmia, Hypospadias ORPHA:494344
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Marden-Walker Syndrome
Microphthalmia, Micropenis, Hypospadias, Renal hypoplasia OMIM:248700
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... OMIM:617666
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Hypothermia, Abnormality of the endocrine system, Precocious puberty, Abnormal... ORPHA:438213
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus OMIM:151660
Duane-Radial Ray Syndrome
Renal malrotation, Optic disc hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Ves... OMIM:607323
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Pancreatic fi... ORPHA:564
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Bohring-Opitz Syndrome
Optic atrophy, Bradycardia ORPHA:97297
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance OMIM:248370
Fatal Familial Insomnia
Fever, Abnormal autonomic nervous system physiology OMIM:600072
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Oligosacchariduria ORPHA:163649
Yellow Fever
Shock, Fever, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ... ORPHA:99829
Mosaic Trisomy 1
Hepatic agenesis, Renal cortical cysts, Renal cyst, Microphthalmia, Micropenis, Penile hypospadias ORPHA:1692
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Bilateral renal hypoplasia, Microphthalmia, Hydronephrosis OMIM:243605
Moebius Syndrome
Microphthalmia, Micropenis OMIM:157900
Atypical Werner Syndrome
Hepatic steatosis, Failure to thrive, Diabetes mellitus, Lipoatrophy, Hypertriglyceridemia, Abnor... ORPHA:79474
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Posttransplant Acute Limbic Encephalitis
Abnormal autonomic nervous system physiology ORPHA:163921
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Baraitser-Winter Syndrome 1
Microphthalmia, Micropenis OMIM:243310
Microphthalmia, Syndromic 9
Renal malrotation, Anophthalmia, Bilateral microphthalmos, Multilobulated spleen, Renal hypoplasi... OMIM:601186
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Renal agenesis, Ectopic kidney, Abnormal renal morphology, Horsesho... OMIM:227650
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Pelvic kidney, Hydronephrosis OMIM:613001
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... OMIM:256800
Infantile Neuroaxonal Dystrophy
Temperature instability, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality... ORPHA:35069
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... OMIM:614098
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Pancreatic isle... OMIM:312870
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Microphthalmia, Pelvic kidney OMIM:603467
Micro Syndrome
Microphthalmia, Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney ORPHA:2510
Meckel Syndrome 14
Microphthalmia, Hepatic fibrosis, Polycystic kidney dysplasia OMIM:619879
Adams-Oliver Syndrome
Microphthalmia, Congenital hepatic fibrosis, Cirrhosis, Portal hypertension ORPHA:974
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia, Abnormal autonomic nervous system physiology ORPHA:71273
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Stevenson-Carey Syndrome
Microphthalmia, Recurrent urinary tract infections OMIM:611961
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Microphthalmia OMIM:600901
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Microphthalmia, Hydronephrosis ORPHA:568
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Micropenis, Micro... OMIM:227646
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Warburg Micro Syndrome 4
Microphthalmia, Micropenis OMIM:615663
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Proteinuria, Multiple bladder diverticula ORPHA:2728
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Joubert Syndrome 14
Microphthalmia, Renal cyst OMIM:614424
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Neurogenic bladder, Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:466934
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Multicystic kidney dysplasia ORPHA:3301
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Occipital Horn Syndrome
Hypothermia ORPHA:198
Kapur-Toriello Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2328
Monosomy 18P
Microphthalmia ORPHA:1598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Hypospadias, Hydronephrosis OMIM:616449
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Pierson Syndrome
Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5... OMIM:609049
Temtamy Syndrome
Microphthalmia OMIM:218340
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... OMIM:146510
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin OMIM:614008
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... OMIM:617729
Warburg Micro Syndrome 3
Microphthalmia, Micropenis OMIM:614222
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Renal hypoplasia, Macronodu... OMIM:620005
Pseudotrisomy 13 Syndrome
Microphthalmia, Micropenis, Renal agenesis, Renal hypoplasia OMIM:264480
Wolfram Syndrome
Gastrointestinal hemorrhage, Diabetes mellitus, Optic atrophy, Cardiomyopathy, Hypogonadism, Abno... ORPHA:3463
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Limb joint contracture, Small for gestational age, D... ORPHA:404454
Caribbean Parkinsonism
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction ORPHA:97355
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Male urethral meatus stenosis, Microphthalmia, Cholelithiasis, Hydronephrosis ORPHA:464738
Focal Dermal Hypoplasia
Acute hepatic failure, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, ... ORPHA:2092
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Acro-Renal-Ocular Syndrome
Renal malrotation, Optic disc hypoplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Bladder div... ORPHA:959
Joubert Syndrome 2
Microphthalmia, Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Walker-Warburg Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia ORPHA:899
Steinfeld Syndrome
Microphthalmia, Unilateral renal dysplasia, Absent gallbladder OMIM:184705
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter... ORPHA:90324
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Hydronephrosis ORPHA:35173
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia, Unexplained fevers ORPHA:79404
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Rodrigues Blindness
Microphthalmia OMIM:268320
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Micropenis OMIM:241410
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Microphthalmia OMIM:227645
3Q29 Microdeletion Syndrome
Microphthalmia, Hypospadias, Horseshoe kidney ORPHA:65286
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Vesicoureteral reflux, Microphthalmia, Hydronephrosis ORPHA:2059
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Hypospadias ORPHA:2505
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hypoplasia of the iris, Nephrotic ... OMIM:251300
Neurodegeneration With Brain Iron Accumulation 5
Abnormal autonomic nervous system physiology OMIM:300894
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto... OMIM:105210
Alexander Disease Type Ii
Abnormal autonomic nervous system physiology ORPHA:363722
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Renal dysplasia OMIM:618571
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Adrenal pheochromocyt... OMIM:115310
Kapur-Toriello Syndrome
Microphthalmia, Micropenis, Abnormality of the urinary system OMIM:244300
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology OMIM:614575
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Warburg Micro Syndrome 2
Microphthalmia, Micropenis OMIM:614225
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Chromosome 13Q33-Q34 Deletion Syndrome
Left ventricular hypertrophy, Microphthalmia, Penoscrotal transposition, Hypospadias OMIM:619148
Teebi-Shaltout Syndrome
Microphthalmia, Ureteral stenosis, Hydronephrosis, Horseshoe kidney OMIM:272950
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Haddad Syndrome
Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:99803
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Hydronephrosis OMIM:302960
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Optic nerve hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Micropht... ORPHA:508498
Solitary Fibrous Tumor
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia ORPHA:2126
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypothyroidism, Abnormal autonomic nervous system physiology, Hypotension ORPHA:93256
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Hypospadias OMIM:615877
Martsolf Syndrome 1
Microphthalmia, Micropenis OMIM:212720
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Fanconi Anemia, Complementation Group L
Microphthalmia, Micropenis, Renal hypoplasia, Unilateral renal agenesis OMIM:614083
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p... OMIM:249000
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Microphthalmia, Hydronephrosis ORPHA:250989
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia ORPHA:3412
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Abnormal autonomic nervous system physiology OMIM:617903
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Abnormal localization of kidney, Absent gallbladder ORPHA:3186
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Temperature instability, Sinus bradycardia OMIM:619482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia, Renal hypoplasia, Renal cyst OMIM:616300
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Microphthalmia, Micropenis OMIM:206900
8Q21.11 Microdeletion Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:284160
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Acute Transverse Myelitis
Fever, Orthostatic hypotension, Abnormality of temperature regulation, Subarachnoid hemorrhage, H... ORPHA:139417
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Fanconi Anemia
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... ORPHA:84
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Renal cyst, Polyspl... OMIM:229850
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Micropenis OMIM:614230
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Cardiomyopathy, Abnormal autonomic nervous system physiology, Abn... ORPHA:2131
Jacobsen Syndrome
Microphthalmia, Annular pancreas, Macular hypoplasia, Hypospadias OMIM:147791
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Abnormal autonomic nervous system physiology, Hypothyroidism, Recurrent ... ORPHA:453499
Mycophenolate Mofetil Embryopathy
Microphthalmia, Ectopic kidney ORPHA:268249
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormal localization of kidney, Micr... ORPHA:2166
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99413
Mosaic Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99226
Turner Syndrome
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:881
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Degcags Syndrome
Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Abnorma... OMIM:619488
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Hydronephrosis ORPHA:2839
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Renal cyst, Vesicoureteral reflux, Microphthalmia, Annular pancreas OMIM:616975
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria... ORPHA:191
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Combined Oxidative Phosphorylation Defect Type 29
Abnormal autonomic nervous system physiology, Optic neuropathy ORPHA:478029
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal autonomic nervous system physiology OMIM:616840
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia ORPHA:2250
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... ORPHA:534
Tetraamelia Syndrome 1
Asplenia, Microphthalmia, Renal agenesis, Urethral atresia OMIM:273395
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Hypoplasia of the iris, Microphthal... OMIM:133540
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:146500
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Unilateral microphthalmos OMIM:618874
Cousin Syndrome
Microphthalmia, Hydronephrosis OMIM:260660
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Proteinuria, Abnormality of the spleen, Abnormality of the uri... ORPHA:2162
Trisomy 18
Microphthalmia, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:3380
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Nmda Receptor Encephalitis
Fever, Orthostatic hypotension, Orthostatic tachycardia, Neoplasm of the thymus, Abnormal autonom... ORPHA:217253
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Ohdo Syndrome, X-Linked
Microphthalmia, Micropenis OMIM:300895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Microphthalmia, Renal dysplasia, Optic nerve hypoplasia OMIM:236670
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Parkinsonian-Pyramidal Syndrome
Neurogenic bladder, Abnormal autonomic nervous system physiology ORPHA:171695
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia, Micropenis, Absent gallbladder OMIM:617925
Lambert-Eaton Myasthenic Syndrome
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction ORPHA:43393
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Parkinson Disease, Late-Onset
Abnormal autonomic nervous system physiology OMIM:168600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal autonomic nervous system physiology, Abnormal cranial nerve morphology ORPHA:247234
22Q11.2 Deletion Syndrome
Hypospadias, Splenomegaly, Renal hypoplasia, Multiple renal cysts, Polycystic kidney dysplasia, V... ORPHA:567
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Cohen Syndrome
Microphthalmia ORPHA:193
Frontorhiny
Microphthalmia ORPHA:391474
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Multicystic kidney dysplasia, Nephroblastoma ORPHA:1052
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Bilateral microphthalmos, Microph... ORPHA:468631
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Hypospadias OMIM:223370
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Micropenis, Chordee, Hypospadias OMIM:309801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Optic nerve hypoplasia OMIM:614643
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesis, Ureteral agenesis, Duplication o... ORPHA:141099
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Oculoauricular Syndrome
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia OMIM:612109
Monosomy 9Q22.3
Microphthalmia, Nephroblastoma ORPHA:77301
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Absence of subcutaneous fat, Weight loss, Severe fai... ORPHA:740
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Bartsocas-Papas Syndrome 1
Microphthalmia, Micropenis, Ectopic kidney OMIM:263650
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Annular pancreas OMIM:268400
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia, Horseshoe kidney ORPHA:1106
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia, Micropenis, Hypospadias, Horseshoe kidney OMIM:609945
Holoprosencephaly 9
Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Hallermann-Streiff Syndrome
Microphthalmia, Abdominal situs inversus ORPHA:2108
Roberts Syndrome
Microphthalmia, Long penis, Polycystic kidney dysplasia ORPHA:3103
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... OMIM:309000
Oculodentodigital Dysplasia
Microphthalmia, Neurogenic bladder OMIM:164200
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Micropenis, Hypospadias OMIM:603457
Monosomy 9P
Microphthalmia, Ureteropelvic junction obstruction, Hypospadias ORPHA:261112
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, U... ORPHA:2052
Aicardi Syndrome
Hepatoblastoma, Microphthalmia ORPHA:50
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Incontinentia Pigmenti
Microphthalmia ORPHA:464
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
Charge Syndrome
Anophthalmia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia, Micropenis, Hydronephrosis ORPHA:138
Treacher-Collins Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:861
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Hypospadias, Ureterocele OMIM:616734
Aicardi Syndrome
Hepatoblastoma, Microphthalmia OMIM:304050
Renpenning Syndrome 1
Microphthalmia, Hypospadias, Renal hypoplasia, Phimosis OMIM:309500
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia, Homocystinuria OMIM:601552
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Microphthalmia ORPHA:2556
Isolated Arrhinia
Microphthalmia ORPHA:1134
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Right ventricular hypertrophy, Prolonged neonatal jaundice OMIM:620186
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Focal Dermal Hypoplasia
Ureteral duplication, Anophthalmia, Horseshoe kidney, Aniridia, Microphthalmia, Bifid ureter, Hyd... OMIM:305600
Yunis-Varon Syndrome
Hypospadias, Cardiomegaly, Bilateral microphthalmos, Renovascular hypertension, Renal artery sten... ORPHA:3472
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Stüve-Wiedemann Syndrome
Hypothyroidism, Abnormal autonomic nervous system physiology, Ectopic thyroid, Recurrent fever ORPHA:3206
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Hydrolethalus Syndrome 1
Accessory spleen, Microphthalmia, Hypospadias, Hydronephrosis OMIM:236680
Liver Disease, Severe Congenital
Abnormal circulating thyroid hormone concentration, Hyperinsulinemic hypoglycemia OMIM:619991
Leprosy
Epistaxis, Abnormality of the seventh cranial nerve, Abnormal autonomic nervous system physiology... ORPHA:548
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Unilateral renal agenesis, Abnormality of the kidney, Bilateral microphth... ORPHA:508488
Trichothiodystrophy
Bilateral microphthalmos ORPHA:33364
Fraser Syndrome 1
Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Bilateral microphthalmos, Renal hypoplasia, ... OMIM:219000
Charge Syndrome
Anophthalmia, Renal agenesis, Unilateral microphthalmos, Horseshoe kidney, Renal hypoplasia, Micr... OMIM:214800
Microphthalmia, Syndromic 2
Microphthalmia, Phthisis bulbi, Anophthalmia, Hypospadias OMIM:300166
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Micropenis OMIM:613884
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos OMIM:610828
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Fontaine Progeroid Syndrome
Left ventricular hypertrophy, Microphthalmia, Micropenis OMIM:612289
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Long penis, Biliary tract abnormality, Horseshoe kidney, Polycysti... OMIM:268300
Mend Syndrome
Microphthalmia ORPHA:401973
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Myhre Syndrome
Microphthalmia OMIM:139210
Pallister-Hall Syndrome
Hypospadias, Unilateral renal agenesis, Ectopic kidney, Bilateral renal agenesis, Microphthalmia,... ORPHA:672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Holoprosencephaly 1
Microphthalmia, Micropenis OMIM:236100
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia, Renal hypoplasia OMIM:607932
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Asplenia, Chordee,... ORPHA:261537
Branchiooculofacial Syndrome
Anophthalmia, Renal agenesis, Hypospadias, Renal cyst, Microphthalmia OMIM:113620
Alström Syndrome
Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado... ORPHA:64
Witteveen-Kolk Syndrome
Hypospadias, Phimosis, Male urethral meatus stenosis, Microphallus, Microphthalmia OMIM:613406
Monosomy 13Q14
Microphthalmia ORPHA:1587
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Abnormality of the... ORPHA:2152
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Neu-Laxova Syndrome 1
Microphthalmia, Renal agenesis OMIM:256520
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Asplenia, Duplicat... ORPHA:261552
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... ORPHA:79318
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma OMIM:619539
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux... OMIM:164210
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Mowat-Wilson Syndrome
Microphthalmia, Hypospadias, Abnormality of the kidney OMIM:235730
Microphthalmia, Syndromic 1
Anophthalmia, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Renal hypoplasia, Microphthalmia OMIM:309800
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Holoprosencephaly 2
Microphthalmia OMIM:157170

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 Ffar3

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 Ffar3.

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

Title Journal IMPC Allele PubMed ID
Intestinal FFA3 mediates obesogenic effects in mice on a Western diet. American journal of physiology. Endocrinology and metabolism (July 2022) Ffar3tm1c(EUCOMM)Hmgu Ffar3tm1a(EUCOMM)Hmgu 35858247

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ffar3tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ffar3em1(IMPC)Mbp Whole-gene deletion Mice, Tissue
Ffar3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ffar3tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter