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Gene: Lrig3 MGI:2443955

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Gene Summary

Name:
leucine-rich repeats and immunoglobulin-like domains 3
Synonyms:
9030421L11Rik,  9430095K15Rik,  9130004I02Rik

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
abnormal heart morphology Lrig3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal digit morphology Lrig3em1(IMPC)Ccpcz HOM   Early adult 4.25×10-05
increased circulating lactate dehydrogenase level Lrig3em1(IMPC)Ccpcz HOM Early adult 5.82×10-05
female infertility Lrig3em1(IMPC)Ccpcz HOM Early adult 0.00
decreased body weight Lrig3em1(IMPC)Ccpcz HOM   Early adult 4.32×10-05
abnormal skin morphology Lrig3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal vertebrae morphology Lrig3em1(IMPC)Ccpcz HOM Early adult 1.70×10-12
abnormal spleen morphology Lrig3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal cranium morphology Lrig3em1(IMPC)Ccpcz HOM Early adult 8.64×10-06
increased circulating aspartate transaminase level Lrig3em1(IMPC)Ccpcz HOM Early adult 4.52×10-05
increased circulating alanine transaminase level Lrig3em1(IMPC)Ccpcz HOM Early adult 2.48×10-08
abnormal gait Lrig3em1(IMPC)Ccpcz HOM Early adult 6.82×10-05
male infertility Lrig3em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Lrig3em1(IMPC)Ccpcz HOM Early adult 0.00
increased kidney weight Lrig3em1(IMPC)Ccpcz HOM Early adult 1.09×10-05
decreased circulating alkaline phosphatase level Lrig3em1(IMPC)Ccpcz HOM Early adult 4.32×10-05
abnormal caudal vertebrae morphology Lrig3em1(IMPC)Ccpcz HOM   Early adult 3.74×10-05
increased circulating creatine kinase level Lrig3em1(IMPC)Ccpcz HOM Early adult 2.80×10-09
enlarged thymus Lrig3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart left ventricle morphology Lrig3em1(IMPC)Ccpcz HOM   Early adult 6.18×10-05
abnormal skeletal muscle morphology Lrig3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Lrig3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal vertebral arch morphology Lrig3em1(IMPC)Ccpcz HOM Early adult 4.42×10-12

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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 Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

28 Images

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X-ray

XRay Images Hind Leg and Hip

27 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Human diseases caused by Lrig3 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 Lrig3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestat... ORPHA:324575
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... OMIM:619897
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circul... ORPHA:276575
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizure... ORPHA:276580
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
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased c... ORPHA:276556
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Fraxe Intellectual Disability
Hyperactivity, Prominent nasal bridge, Impulsivity, Aggressive behavior, Prominent ear helix, Ste... ORPHA:100973
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... OMIM:612124
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia OMIM:608320
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... OMIM:615770
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... OMIM:619747
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,... ORPHA:45452
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Abnorm... ORPHA:860
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer... OMIM:619518
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cel... ORPHA:276608
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... ORPHA:2041
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Posteriorly rotated ears, Broad nasal tip, Wide nasal bridge, Low-set ears, Recurrent hand flappi... OMIM:618147
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
17Q21.31 Microduplication Syndrome
Anteverted nares, Compulsive behaviors, Attention deficit hyperactivity disorder, Short nose, Abn... ORPHA:217340
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Atrial Standstill 1
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... OMIM:108770
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... OMIM:615184
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Hypertension, Type II diabetes mellitus, Childho... ORPHA:71529
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limited elbow mov... OMIM:300280
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Prominent nasal bridge, Impulsivity, Aggressive behavior, Stereotypical body rocki... OMIM:309548
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention de... OMIM:613670
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:613239
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, In... OMIM:610947
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Ventri... ORPHA:263297
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Prominent nose, Anteverted ears, Aggressive behavior, Macrotia, Abnormal repetitiv... OMIM:615541
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Short nose, Anteverted nares ORPHA:2015
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:603373
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Prominent nasal bridge, Aggressive behavior, Low-set ear... OMIM:609425
Maxillonasal Dysplasia, Binder Type
Large earlobe, Short nose, Short columella, Depressed nasal bridge OMIM:155050
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Ventricular septal defect, Elevated circulating creatine kina... ORPHA:26793
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:255100
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hyperthyroidism, Weight loss, Hypokalemia, Palpitations, Goiter OMIM:188580
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares, Round ear ORPHA:1450
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... ORPHA:90064
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Mucopolysaccharidosis-Plus Syndrome
Short neck, Metaphyseal widening, Flexion contracture, Leukopenia, Hypoalbuminemia, Macrovesicula... OMIM:617303
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardia... OMIM:212138
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Hypothyroidism, Ven... OMIM:601005
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608636
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Bulbous nose, Wide nasal bridge, Attention deficit hyperactiv... OMIM:620292
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Kaposiform Lymphangiomatosis
Abnormal femur morphology, Abnormal form of the vertebral bodies, Abnormality of the cervical spi... ORPHA:464329
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... OMIM:605373
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil... OMIM:619902
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyopathy, Ventric... OMIM:600649
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Restlessness, Short nose, Sensorineural hearing impairment OMIM:618379
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Variegate Porphyria
Tachycardia OMIM:176200
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares, Low-set ears ORPHA:46
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula... OMIM:613507
Rhiny
Short nose, Anteverted nares OMIM:180360
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... OMIM:618654
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... OMIM:168000
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, N... OMIM:615285
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c... ORPHA:268
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Hepatomegaly, Thoracolum... OMIM:252500
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsul... ORPHA:263455
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Ethanolaminosis
Cardiomegaly OMIM:227150
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hypoglycemia, Congestive heart failure, Decreased plasma free carnitine,... OMIM:619048
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased... OMIM:608836
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Failure to thrive, Ventricular septal defect, Double outlet righ... ORPHA:3426
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Small for gestational ... OMIM:609152
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent... OMIM:300257
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171420
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Anteverted nares, Prominent nasal bridge, Aggressive behavior, Agita... OMIM:300558
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Pterygium Colli, Isolated
Short nose, Protruding ear OMIM:177990
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... OMIM:253700
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... OMIM:615382
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Hypertension, Tachycardia, Ventricular septal defect OMIM:613870
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Clark-Baraitser Syndrome
Hyperactivity, Depressed nasal bridge, Anteverted nares, Aggressive behavior, Large earlobe, Low-... OMIM:617752
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short nose, Anteverted nares ORPHA:1355
Lethal Osteosclerotic Bone Dysplasia
Posteriorly rotated ears, Anteverted nares, Depressed nasal ridge, Low-set ears, Short nose ORPHA:1832
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Urethral ... OMIM:314390
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
7Q31 Microdeletion Syndrome
Hyperactivity, Wide nasal ridge, Prominent nose, Hypoplasia of the cochlea, Hypoplasia of the sem... ORPHA:251061
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Meckel Syndrome, Type 8
Short neck, Pericardial effusion, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, ... OMIM:613885
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... OMIM:269920
Baker-Gordon Syndrome
Prominent nasal tip, Short nose, Abnormal repetitive mannerisms, Self-injurious behavior OMIM:618218
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Broad nasal tip, Wide nasal bridge, Large earlobe, Bruxism, Short nose OMIM:615716
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Hypertension,... ORPHA:280356
Burn-Mckeown Syndrome
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia ORPHA:1200
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... OMIM:613243
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... ORPHA:449285
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Low-set ears, Short nose, Abnormal repetitive mannerisms OMIM:613443
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Non-Distal Duplication 10Q
Low-set, posteriorly rotated ears, Short nose, Depressed nasal bridge, Convex nasal ridge ORPHA:1695
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Macrotia, Depressed nasal bridge ORPHA:438178
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Wide nasal bridge OMIM:619690
Cantu Syndrome
Bicuspid aortic valve, Ovoid vertebral bodies, Broad hallux, Large for gestational age, Pericardi... OMIM:239850
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia OMIM:617862
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... OMIM:256450
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Short nose, Impulsivity, Uplifted earlobe OMIM:300143
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur... OMIM:611705
Chung-Jansen Syndrome
Anteverted nares, Impulsivity, Aggressive behavior, Large earlobe, Attention deficit hyperactivit... OMIM:617991
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short neck, Flexion contracture, Leukopenia, Hypoalbuminemia, Thoracic kyphosis, Atrial septal de... ORPHA:505248
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Attention deficit hyperactivity disorder OMIM:245570
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysma... ORPHA:49827
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Skeletal muscle atrophy, Dicarboxylic acidu... ORPHA:42
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... OMIM:212140
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Cardiomegaly ORPHA:88643
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetitive mannerisms, Pa... OMIM:618718
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Abnormal left ventri... OMIM:540000
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose OMIM:125700
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia, Hypergonadotropic hypogonadism, Obesity, Hyperglycemia OMIM:619737
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Abnormal ... ORPHA:465508
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circulating fe... OMIM:235200
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, De... OMIM:618774
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr... ORPHA:57777
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms OMIM:617830
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism OMIM:619150
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... OMIM:306955
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c... OMIM:602088
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Myotonic Dystrophy 2
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... OMIM:602668
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Tachycardia, Failure to thrive in infancy, Elevated c... ORPHA:264675
N-Acetylaspartate Deficiency
Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Situs inversus totalis, As... OMIM:615415
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Spinal canal stenosis, Hypertrophic ... ORPHA:85451
Spermatogenic Failure 17
Male infertility OMIM:617214
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... ORPHA:730
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... OMIM:601820
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... OMIM:608022
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Acrocephalopolydactyly
Short nose, Microtia, Depressed nasal ridge ORPHA:221054
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Large for gestational age, Kyphosis, Nephroblastoma, Enlarged kidney OMIM:618272
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Anteverted nares, Repetitive compulsive behavior, Wide nasal bridge, Compulsive be... ORPHA:352490
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Ventricular tachycardia, Hyperammonemia, Cardio... ORPHA:159
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Hypotension, Postural hypotension with compensato... ORPHA:369873
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Sensorineural hearing impairment, ... ORPHA:1529
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
16P12.1P12.3 Triplication Syndrome
Tachycardia, Decreased response to growth hormone stimulation test, Abnormal heart morphology, Ab... ORPHA:485405
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Anteverted nares, Severe temper tantrums, Stereotypical hand wringing OMIM:619854
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Aggressive behavior, Attenti... OMIM:618825
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand flapping, Macrotia OMIM:300624
Chromosome 2Q37 Deletion Syndrome
Wide nose, Hyperactivity, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Aggressive b... OMIM:600430
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Sensorineural hearing impairm... OMIM:614744
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Abnormal repetitive mannerisms ORPHA:85277
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
17P13.3 Microduplication Syndrome
Low-set ears, Wide nose, Short nose ORPHA:217385
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Short nose, Depressed nasal bridge ORPHA:261120
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Anteverted nares, Aggressive behavior, Sensorineural hearing impairment, Wide nasa... OMIM:618342
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati... OMIM:613327
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Increased total bilirubin ORPHA:90037
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms, Jerky head movements ORPHA:98807
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Brad... OMIM:614702
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anteverted nares, Prominent nasal bridge, Broad nasal tip, Prominent ear helix, Bulbous nose, Lar... ORPHA:411986
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Short nose, Short nasal septum, Hearing impairment OMIM:302950
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy ORPHA:335
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, First degree atrioventricular... OMIM:115197
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... ORPHA:85445
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... OMIM:246700
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Posteriorly rotated ears, Short nose, Anteverted nares, Low-set ears OMIM:618506
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Bulbous nose, Inappropriate laughter, Thickened helices... OMIM:614104
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... OMIM:620135
Intellectual Developmental Disorder, X-Linked 91
Short nose OMIM:300577
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Elevated ci... OMIM:614921
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Depressed nasal bridge, Posteriorly rotated ears, Aggressive behavior, Bulbous nos... OMIM:618430
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Repetitive compulsive behavior, Recurrent upper respiratory tract infections, Ab... ORPHA:391372
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... OMIM:618620
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Short nose, Anteverted nares ORPHA:228384
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Attention deficit hyperactivity disorder, Short nose, He... OMIM:619736
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617820
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Delayed puberty... OMIM:616834
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment OMIM:601369
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Highly elevated creatine kinase, Hypertrophic cardiomyopathy, Tachycardia, Elevated circulating c... ORPHA:368
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms, Broad nasal tip OMIM:617393
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Self-injurious behavior, Thickened ... OMIM:618828
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Short nose ORPHA:2370
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... ORPHA:542323
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Conductive hearing impairment, Short nose, Depressed nasal bridge, Low-set ears OMIM:616910
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Short digit, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wideni... OMIM:613091
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Pheochromocytoma
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171300
Primary Ciliary Dyskinesia
Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Female infertility, Situs ... ORPHA:244
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis, Cardiomegaly, Abnormal thumb morphology, Inability to walk, Abnormal atrioventric... ORPHA:324410
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Large for gestational age, Tibial bowing, Spina bifida occulta, Long hallu... ORPHA:500095
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Overfolded helix, Abnormal middle ear morphology, Abnormal antihelix morphology, L... ORPHA:79113
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiac arrest, Premature thela... OMIM:616878
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Abnormal heart morphology ORPHA:79264
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo ORPHA:71518
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Intellectual Developmental Disorder, Autosomal Dominant 51
Aggressive behavior, Wide nasal bridge, Fixated interests, Tics, Attention deficit hyperactivity ... OMIM:617788
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Self-injurious behavior, Aggressive behavior ORPHA:382
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Coffin-Siris Syndrome 7
Wide nose, Hyperactivity, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Sev... OMIM:618027
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... OMIM:276700
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Iliac crest serration, Micromelia, Short neck, Cardiomegaly, Wide dist... OMIM:613320
Tetanus
Hypertension, Tachycardia, Bradycardia, Elevated circulating creatine kinase concentration ORPHA:3299
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped n... OMIM:300912
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinu... OMIM:256550
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Bulbous nose, Protruding ear, Abnormal antihelix morphology, Short nose, ... ORPHA:261144
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Hydroxykynureninuria
Abnormal circulating tryptophan concentration, Tachycardia, Hypotension ORPHA:79155
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... ORPHA:85450
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Pontocerebellar Hypoplasia, Type 11
Bulbous nose, Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Macro... OMIM:617695
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenop... ORPHA:858
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Fucosidosis
Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,... OMIM:230000
Stiff-Person Syndrome
Hypertension, Tachycardia, Diabetes mellitus OMIM:184850
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Thoracic scoliosis, Overlapping fingers... OMIM:617022
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Small for gestational age, Ventricular septal defect, Hypospadias, Cardiomegaly, Sho... OMIM:616897
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Kyphoscoliosis, Cardiomegaly OMIM:300886
Attrv30M Amyloidosis
Cardiomegaly, Weight loss, Cardiomyopathy, Impotence, Nephropathy, Abnormal renal physiology ORPHA:85447
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Depressed nasal bridge, Broad nasal tip, Tics, Low-set ears, Attention ... OMIM:617808
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Hypospadias, Female infertility, Crypt... ORPHA:261529
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... OMIM:300952
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... ORPHA:275864
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Failure to thrive, C... OMIM:614096
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Xq28 (MECP2) duplication
Abnormal repetitive mannerisms, Macrotia, Depressed nasal bridge, Dysphagia DECIPHER:45
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, Elevated circulating creati... OMIM:201475
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Limb hy... OMIM:619170
Potocki-Lupski Syndrome
Small for gestational age, Hypothyroidism, Hypocholesterolemia, Atrial septal defect, Failure to ... OMIM:610883
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... ORPHA:980
H Syndrome
Hallux valgus, Histiocytosis, Hypertriglyceridemia, Abnormality of the kidney, Microcytic anemia,... ORPHA:168569
Shukla-Vernon Syndrome
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Wide nasal base, Abno... OMIM:301029
Relapsing Fever
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... ORPHA:91547
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Posteriorly rotated ears, Bulbous nose, Wide nasal bridge, Low-set ears, Recurr... OMIM:613604
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se... ORPHA:71526
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Bilateral conductive hearing impairment, Low-set ears, Dysphagia, Short n... OMIM:617802
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Female infertility, Goiter OMIM:617577
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperprolinemia, Hyperalaninemia OMIM:619064
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Perlman Syndrome
Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Low-set ears, Thickened helices, S... ORPHA:2849
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... ORPHA:449395
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy... OMIM:615745
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... ORPHA:439232
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Congestive heart failure,... ORPHA:528
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Aggressive behavior, Bulbous n... ORPHA:284169
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Posteriorly rotated ears, Low-set ears, Dysphagia, Short nose, Thick nasal alae ORPHA:163961
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Hyperactivity, Restlessness, Depressed nasal bridge, Aggressive behavior, Bulbo... ORPHA:369891
Developmental And Epileptic Encephalopathy 64
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Self-injurious behavior, Low insertion... OMIM:618004
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... OMIM:255120
Dentici-Novelli Neurodevelopmental Syndrome
Macrotia, Abnormal repetitive mannerisms, Prominent nasal bridge, Hearing impairment OMIM:619877
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly OMIM:618838
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadeni... OMIM:618886
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Mercury Poisoning
Hypertension, Hypokalemia, Tachycardia, Hypotension ORPHA:330021
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... OMIM:600795
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Prominent nose, Macrotia, Abnormal repetitive mannerisms ORPHA:391307
Smith-Magenis Syndrome
Hyperactivity, Self hugging, Wide nasal bridge, Head-banging, Abnormality of the outer ear, Onych... OMIM:182290
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertro... OMIM:605676
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... ORPHA:97214
Alg9-Cdg
Short neck, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology, Nar... ORPHA:79328
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Depressed nasal bridge, Tongue thrusting, Pica, Stereotypical body rocking, Tics, ... OMIM:617865
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Depressed nasal bridge, Aggressive behavior, Bulbous nose, Wide nasal bridge, Self-injurious beha... OMIM:617061
Pierpont Syndrome
Wide nose, Posteriorly rotated ears, Broad nasal tip, Large fleshy ears, Short nose, Hearing impa... OMIM:602342
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Protruding ear ORPHA:1495
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hyp... ORPHA:14
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Microtia, Short nose, Hearing impairment ORPHA:1914
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Adrenal pheochromocyt... OMIM:115310
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Malignant Hyperthermia Of Anesthesia
High-output congestive heart failure, Hyperkalemia, Ventricular tachycardia, Cardiomyocyte mitoch... ORPHA:423
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumbar... OMIM:252920
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Limb ataxia, Truncal ataxia, Hyperalaninem... OMIM:619051
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Anosmia, Dilated vestibule o... OMIM:611584
Apert Syndrome
Depressed nasal bridge, Choanal atresia, Sensorineural hearing impairment, Abnormal semicircular ... ORPHA:87
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Alazami Syndrome
Wide nose, Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilatio... ORPHA:319671
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Shor... ORPHA:1248
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the ... OMIM:608978
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Hyperaldosteronism, Familial, Type Iv
Hypertension, Hyperaldosteronism OMIM:617027
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge OMIM:200130
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent nose, ... OMIM:617796
Refsum Disease, Classic
Short fourth metatarsal, Ataxia, Cardiomegaly, Elevated circulating phytanic acid concentration, ... OMIM:266500
Aromatase Deficiency
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism... ORPHA:91
16P11.2P12.2 Microdeletion Syndrome
Hyperactivity, Anteverted nares, Abnormal pinna morphology, Long nose, Bulbous nose, Absent nasal... ORPHA:261211
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Renal cyst, Vertebral segmentation defect, Narrow greater sciati... OMIM:312870
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms, Broad nasal tip OMIM:615637
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Obes... ORPHA:251004
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin ORPHA:90036
Potocki-Shaffer Syndrome
Short nose, Wide nasal bridge, Underdeveloped nasal alae OMIM:601224
Christianson Syndrome
Abnormality of the nose, Inappropriate laughter, Dysphagia, Macrotia, Abnormal repetitive mannerisms ORPHA:85278
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Low-set e... OMIM:614069
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Short nose, Macrotia, Low-set ears OMIM:615419
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Short fourth metatarsal, Multiple joint contractures, Brachydactyly, Single transve... OMIM:618143
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Increased circulating fr... ORPHA:71212
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbi... ORPHA:348
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Ventricular arrhythmia OMIM:141000
Chromosome 6Q11-Q14 Deletion Syndrome
Short nose, Prominent nasal bridge, Low-set ears, Broad nasal tip OMIM:613544
Scorpion Envenomation
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... ORPHA:466677
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Dermotrichic Syndrome
Short nose, Macrotia, Depressed nasal bridge ORPHA:99688
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... OMIM:618280
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Hypospadias, Single transverse palm... OMIM:612651
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, L... ORPHA:116
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia, Hyperaldosteronism OMIM:605635
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Hypertension, Diabetic... OMIM:615238
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short nose, Anteverted nares, Head-banging OMIM:619356
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Squalene Synthase Deficiency
Bicuspid aortic valve, Failure to thrive in infancy, Increased circulating farnesol concentration... OMIM:618156
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose, Stereotypical hand wringing ORPHA:289266
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Anteverted nares, Prominent nasal bridge, Sensorineural hearing impairment, Low-se... OMIM:617751
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Pheochromocytoma, Adrenocortical adenoma,... ORPHA:139411
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Cholera
Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Hypovolemic shock, Hyp... ORPHA:173
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Ovoid vertebral bodies,... ORPHA:1517
Holt-Oram Syndrome
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... OMIM:142900
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia ORPHA:79273
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, 2-4 toe syndactyly, Abnormality of the lymphatic system, Hydrocele testis, Foot pol... ORPHA:276280
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Adenylosuccinase Deficiency
Hyperactivity, Anteverted nares, Aggressive behavior, Inappropriate laughter, Low-set ears, Short... OMIM:103050
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Hypoglycemia OMIM:229700
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Anteverted nares, Bruxism, Hearing impairment OMIM:616351
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... OMIM:103900
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ... OMIM:618917
Episodic Ataxia Type 4
Abnormal head movements, Vertigo ORPHA:79136
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular carcinoma, Decreased glomerular fi... OMIM:232220
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Anteverted nares, Short columella, Microtia, Low-set ears, Short nose ORPHA:171839
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Broad nasal tip, Aggressive behavior, Self-biti... ORPHA:3306
Fetal Trimethadione Syndrome
Depressed nasal bridge, Overfolded helix, Abnormal helix morphology, Low-set ears, Short nose ORPHA:1913
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Overfolded helix, Abnormal repetitive mannerisms, Low-set ears OMIM:619092
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Enuresis nocturna, Short 4th ... OMIM:615873
Tenorio Syndrome
Raynaud phenomenon, Syncope, Hypoglycemia, Hypoinsulinemia OMIM:616260
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Anemia, Irregular... ORPHA:79259
Distal Deletion 10Q
Prominent nasal bridge, Prominent nose, Aggressive behavior, Congenital sensorineural hearing imp... ORPHA:96148
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Bulbous nose, Wide nasal bridge, Self-injurious behavior, Low-set ears,... OMIM:613174
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... ORPHA:228308
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widen... ORPHA:93352
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, M... OMIM:617713
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Micromelia, Short neck, Postaxial hand polydactyly, Hepatic fi... OMIM:200995
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, Wide nas... ORPHA:397612
Peho-Like Syndrome
Short nose OMIM:617507
Galactokinase Deficiency
Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Increa... ORPHA:79237
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Short nose OMIM:300581
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Posteriorly rotated ears, Anteverted nares, Self-injurious behavior, Low-set ears,... OMIM:601853
Solitary Fibrous Tumor
Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rick... ORPHA:2126
Tularemia
Tachycardia ORPHA:3392
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Anteverted nares, Short nose, Macrotia, Hearing impairment ORPHA:2701
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Optic Atrophy-Intellectual Disability Syndrome
Anteverted nares, Prominent nasal bridge, Repetitive compulsive behavior, Protruding ear, Abnorma... ORPHA:401777
Neuroleptic Malignant Syndrome
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... ORPHA:94093
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Hypertension, Increased circulating cortisol leve... OMIM:615962
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... ORPHA:90068
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Asplenia, Dextrocardia, Male infertility OMIM:618948
Lopes-Maciel-Rodan Syndrome
Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism OMIM:617435
Glycogen Storage Disease Ia
Hepatomegaly, Decreased muscle mass, Proteinuria, Decreased glomerular filtration rate, Hyperlipi... OMIM:232200
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
Acromicric Dysplasia
Bulbous nose, Anteverted nares, Short nose ORPHA:969
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose OMIM:610015
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, Repetitive compulsive behavior,... OMIM:300260
Myhre Syndrome
Short neck, Hypoplastic iliac wing, Atrial septal defect, Vertebral fusion, Ataxia, Pericardial e... OMIM:139210
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Short nose, Microtia, Convex nasal ridge ORPHA:2145
Macrocephaly-Intellectual Disability-Autism Syndrome
Short nose, Depressed nasal bridge, Attention deficit hyperactivity disorder ORPHA:210548
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, S... OMIM:300855
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Ohdo Syndrome
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Stenosis of the external auditory ca... OMIM:249620
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Muco... ORPHA:349
22Q11.2 Duplication Syndrome
Wide nose, Depressed nasal ridge, Anterior creases of earlobe, Compulsive behaviors, Attention de... ORPHA:1727
Distal Duplication 18Q
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Sho... ORPHA:1716
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Then... ORPHA:2463
Classic Galactosemia
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Ataxia, Decreased fertility in f... ORPHA:79239
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Sepsis In Premature Infants
Tachycardia, Small for gestational age, Elevated circulating C-reactive protein concentration, Br... ORPHA:90051
Edinburgh Malformation Syndrome
Short nose, Anteverted nares, Choanal atresia, Low-set ears ORPHA:1895
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia ORPHA:363400
Porphyria Variegata
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hypertension, Inappropri... ORPHA:79473
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Short neck, Shoulder disloc... OMIM:245600
High Altitude Pulmonary Edema
Tachycardia ORPHA:330012
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia OMIM:614653
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Severe Intellectual Disability And Progressive Spastic Paraplegia
Bulbous nose, Abnormal repetitive mannerisms ORPHA:280763
4Q21 Microdeletion Syndrome
Depressed nasal bridge, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, He... ORPHA:238750
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Palmoplantar keratoderma, Cardiomegaly OMIM:613576
Radio-Tartaglia Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Aggressive behavior, Impulsivit... OMIM:619312
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Intellectual Developmental Disorder, Autosomal Dominant 1
Prominent nose, Aggressive behavior, Bulbous nose, Cupped ear, Depressed nasal ridge, Protruding ... OMIM:156200
Fanconi Anemia, Complementation Group A
Male infertility, Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Sma... OMIM:227650
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Anteverted nares, Prominent nasal bridge, Congenital sensorineural hearing impairment, Sensorineu... ORPHA:500159
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Anteverted nares, Wide nasal bridge, Low-set ears, Attention deficit hyperac... OMIM:619383
1P21.3 Microdeletion Syndrome
Aggressive behavior, Broad nasal tip, Abnormal eating behavior, Self-injurious behavior, Long ear... ORPHA:293948
Even-Plus Syndrome
Bifid nasal tip, Short nose, Microtia, Depressed nasal ridge OMIM:616854
Foxg1 Syndrome
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Stereotypical hand wringing, Bruxism ORPHA:561854
Melanocytic Nevus Syndrome, Congenital
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip OMIM:137550
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:98855
Weiss-Kruszka Syndrome
Anteverted nares, Hearing impairment, Cupped ear, Overfolded helix, Protruding ear, Microtia, Low... OMIM:618619
Codas Syndrome
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Midline defect of the... ORPHA:1458
Miller-Dieker Syndrome
Short nose, Anteverted nares ORPHA:531
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Hypokalemia, Increased circulating renin level, P... OMIM:263800
Leprechaunism
Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Long penis, Hypercalciuria, Nephrocalcin... ORPHA:508
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Hypokalemia, Second degree at... OMIM:615474
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Hyperkalemia, Elevated circulating creatinine concent... ORPHA:340
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Short nose, Depressed nasal bridge, Low-set ears OMIM:614732
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Branchiootorenal Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:113650
Premature Ovarian Failure 13
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Female infertility, Amen... OMIM:617442
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperka... ORPHA:31826
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Elevated circulating creatine kinase concentration, Myocarditis, Elevated cir... ORPHA:36234
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal cardiovas... ORPHA:79086
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Bulbous nose, Low-set ears, Hypoplasia of the antihelix, Short nose, Hearing im... OMIM:616420
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... OMIM:203800
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Posteriorly rotated ears, Prominent nasal bridge, Underdeveloped nasal alae, Overfolded helix, Ma... ORPHA:2083
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Choanal stenosis, Low-set ears, Short ... OMIM:619859
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly,... ORPHA:308552
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Tetrasomy 18P
Low-set, posteriorly rotated ears, Short nose ORPHA:3307
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Glycogen accu... ORPHA:365
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... OMIM:223900
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:98853
Hsd10 Disease, Infantile Type
Cardiomegaly, Hyperammonemia, Choreoathetosis, Loss of ambulation, Hypertrophic cardiomyopathy, A... ORPHA:391428
Blepharophimosis-Impaired Intellectual Development Syndrome
Wide nose, Anteverted nares, Posteriorly rotated ears, Narrow nasal ridge, Underdeveloped nasal a... OMIM:619293
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Al-Raqad Syndrome
Short nose, Low-set ears OMIM:616459
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Microtia ORPHA:2547
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Cardiomegaly, Unsteady gait, Limb ataxia, Gait ataxia, Cardiomyopathy, 3-Methylglutaconic... OMIM:619259
Apparent Mineralocorticoid Excess
Hypertension, Hypokalemia, Abnormality of circulating cortisol level, Left ventricular hypertroph... ORPHA:320
Snijders Blok-Campeau Syndrome
Prominent nose, Wide nasal bridge, Attention deficit hyperactivity disorder, Low-set ears, Abnorm... OMIM:618205
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Depressed nasal bridge, Anteverted nares, Short nose OMIM:614613
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Clubbing, Weight loss, Failure to thrive, Enlarged kidney ORPHA:79128
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Bradycardia, Arrhythm... ORPHA:330001
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose ORPHA:2429
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Depressed nasal bridge, Anteverted nares, Underfolded helix, Prominent nose, Posteriorly rotated ... OMIM:618316
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Impaired glucose tolerance, Elevated circulating creatine kinase concentration, Left bundle branc... OMIM:610131
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Necrotizing Enterocolitis
Hyponatremia, Shock, Small for gestational age, Abnormal heart morphology, Bradycardia, Hypotensi... ORPHA:391673
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Prominent nose, Long nose, Macrotia, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Camptodactyly Syndrome, Guadalajara Type 1
Attached earlobe, Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Mi... ORPHA:1327
Mpi-Cdg
Gastrointestinal hemorrhage, Portal hypertension, Hypoalbuminemia, Hyperinsulinemic hypoglycemia,... ORPHA:79319
Smith-Magenis Syndrome
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Self-injurious behavior, Attention d... ORPHA:819
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy OMIM:618321
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Abnormality of the palmar crea... OMIM:618652
Autosomal Dominant Spastic Ataxia Type 1
Jerky head movements, Dysphagia ORPHA:251282
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Anteverted nares, Paroxysmal bursts of laughter OMIM:618347
Stickler Syndrome Type 1
Short nose, Sensorineural hearing impairment ORPHA:90653
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Low-set ears, Short nose ORPHA:93329
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... ORPHA:449291
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Posteriorly rotated ears OMIM:300887
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... ORPHA:231625
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:98863
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia, Weight loss ORPHA:71273
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Donnai-Barrow Syndrome
Posteriorly rotated ears, Short nose, Depressed nasal bridge, Sensorineural hearing impairment ORPHA:2143
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Scoliosis, Cardiomegaly ORPHA:3137
Alveolar Echinococcosis
Liver abscess, Cholangitis, Renal cyst, Abnormal vertebral morphology, Ataxia, Abnormal pericardi... ORPHA:284
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Femoral bowing, O... OMIM:618188
Mulibrey Nanism
Hepatomegaly, Single transverse palmar crease, Cardiomegaly, Myocardial fibrosis, Pericardial con... OMIM:253250
Intellectual Disability-Strabismus Syndrome
Hyperactivity, Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Aggressive behavior, I... ORPHA:363528
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose OMIM:611936
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... OMIM:261740
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Aggressive behavior, Wide nasal bridge, Microtia, Short nose, Macrotia, Hearing impairment OMIM:620250
Cri-Du-Chat Syndrome
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Wide nasal bridg... OMIM:123450
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Short neck, Ectopic kidney, Dermatoglyphic ridges abnormal, Hepatic fibros... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Short neck, Ectopic kidney, Dermatoglyphic ridges abnormal, Hepatic fibros... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Short neck, Ectopic kidney, Dermatoglyphic ridges abnormal, Hepatic fibros... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Short neck, Ectopic kidney, Dermatoglyphic ridges abnormal, Hepatic fibros... ORPHA:881
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Go... ORPHA:95716
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Intellectual Developmental Disorder, Autosomal Dominant 38
Depressed nasal bridge, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears,... OMIM:616393
Imerslund-Gräsbeck Syndrome
Tachycardia, Failure to thrive, Weight loss ORPHA:35858
Diamond-Blackfan Anemia 8
Short nose, Wide nasal bridge OMIM:612563
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol... OMIM:266510
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Depressed nasal bridge, Aggressive behavior, Prominent crus of h... OMIM:619695
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose ORPHA:2598
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short nose, Wide nasal bridge, Hearing impairment OMIM:614078
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Anteverted nares, Wide nasal bridge OMIM:618577
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureter... OMIM:130650
Autoimmune Hypoparathyroidism
Prolonged QT interval, Ventricular arrhythmia, Autoimmune hypoparathyroidism, Abnormal left ventr... ORPHA:36913
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... OMIM:617877
Bainbridge-Ropers Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa... OMIM:615485
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Restlessness, Short nose, Sensorineural hearing impairment ORPHA:544503
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose ORPHA:833
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin concentratio... OMIM:620306
Distal Deletion 9P
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Wide nasal bridge, Abnorma... ORPHA:1642
Sandhoff Disease
Hepatomegaly, Skeletal muscle atrophy, Ataxia, Urinary incontinence, Cardiomegaly, Hepatosplenome... OMIM:268800
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Depressed nasal bridge, Bulbous nose, Head-banging, Low-set ears, Attention deficit hyperactivity... OMIM:619103
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity OMIM:620195
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy, Hypocholesterolemia OMIM:618810
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... OMIM:603903
9q subtelomeric deletion syndrome
Short nose, Anteverted nares DECIPHER:52
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Abnormal atriov... ORPHA:280365
Craniofacial-Deafness-Hand Syndrome
Short nose, Depressed nasal bridge, Narrow naris, Sensorineural hearing impairment OMIM:122880
Lamb-Shaffer Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Abnormal temper tantrums, Broad nasal tip ORPHA:530983
Non-Distal Duplication 13Q
Abnormal antihelix morphology, Short nose, Aplasia/Hypoplasia of the earlobes ORPHA:1702
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Posteriorly rotated ears, Depressed nasal bridge, Aggressive behavior, Self-injurious behavior, S... OMIM:619833
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Lo... OMIM:616430
Difference Of Sex Development-Intellectual Disability Syndrome
Severe sensorineural hearing impairment, Short nose, Microtia, Low-set, posteriorly rotated ears ORPHA:2983
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardia, Failure to thri... OMIM:610768
Graft Versus Host Disease
Tachycardia, Failure to thrive, Hyperbilirubinemia ORPHA:39812
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Underdeveloped nasal alae, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, At... OMIM:300986
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagn... ORPHA:2239
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Skeletal muscle atrophy, Elevated circulating C-reactive... OMIM:256040
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Hearing abnormali... ORPHA:2031
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Macrotia, Abnormal repetitive mannerisms, Self-mutilation ORPHA:457240
Familial Dysautonomia
Hyponatremia, Hypertension, Orthostatic hypotension, Tachycardia ORPHA:1764
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Depressed nasal ridge, Low-set ears OMIM:300863
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Underdeveloped nasal alae, Lo... OMIM:615866
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Self-injurious behavi... ORPHA:261236
Periventricular Nodular Heterotopia 7
Short nose, Anteverted nares, Sensorineural hearing impairment OMIM:617201
Fetal Hydantoin Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Hearing abnormality, Depressed nasa... ORPHA:1912
Trigonocephaly 1
Short nose, Wide nasal bridge OMIM:190440
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension, Weight loss ORPHA:98849
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short nose ORPHA:1514
Ogden Syndrome
Abnormal head movements, Underdeveloped nasal alae, Short columella, Low-set ears, Macrotia, Enla... ORPHA:276432
Marburg Hemorrhagic Fever
Shock, Pericarditis, Tachycardia, Hypoglycemia, Elevated circulating creatine kinase concentratio... ORPHA:99826
Congenital Disorder Of Glycosylation, Type Il
Short nose, Depressed nasal bridge, Low-set ears OMIM:608776
Baraitser-Winter Syndrome 1
Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Low-set ears, Overfolded h... OMIM:243310
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, Macrotia, Wide nasal bridge OMIM:218000
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con... OMIM:618775
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Rhizomelic Dysplasia, Patterson-Lowry Type
Wide nose, Depressed nasal ridge, Short nose ORPHA:2831
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Overfolded helix, Microtia, Atresia of the external auditory c... OMIM:610536
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Trisomy 12P
Abnormal antihelix morphology, Short nose, Wide nasal bridge, Low-set ears ORPHA:1699
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Osteogenesis Imperfecta
Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Abnormal femur mor... ORPHA:666
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Anteverted nares, Short nose OMIM:618961
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... ORPHA:904
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Mogs-Cdg
Hepatomegaly, Thoracic scoliosis, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Atrial sept... ORPHA:79330
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Failu... ORPHA:99931
Severe X-Linked Intellectual Disability, Gustavson Type
Abnormal pinna morphology, Recurrent upper respiratory tract infections, Short nose, Macrotia, Pr... ORPHA:3078
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... OMIM:618914
Ritscher-Schinzel Syndrome 4
Impulsivity, Aggressive behavior, Wide nasal bridge, Dysphagia, Macrotia, Abnormal repetitive man... OMIM:619435
Retinitis Pigmentosa
Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia, Obesity ORPHA:791
Microcephaly 26, Primary, Autosomal Dominant
Short nose, Prominent nasal bridge, Wide nasal bridge, Stereotypical hand wringing OMIM:619179
Congenital Disorder Of Glycosylation, Type Iia
Posteriorly rotated ears, Prominent nasal bridge, Aggressive behavior, Sensorineural hearing impa... OMIM:212066
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis ORPHA:615
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Low-set ears, Depressed nasal bridge, Anteverted nares, Short nose OMIM:242860
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Hypospadias, Elevated circulating luteinizing hormone level, Bilateral cryptorc... ORPHA:90793
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia, Steatorrhea OMIM:607765
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated circulating cre... ORPHA:230
Rett Syndrome, Congenital Variant
Depressed nasal bridge, Bulbous nose, Tongue thrusting, Protruding ear, Bruxism, Abnormal repetit... OMIM:613454
Mucopolysaccharidosis Type 3
Cardiomegaly, Adenoiditis, Flexion contracture, Abnormal form of the vertebral bodies, Loss of am... ORPHA:581
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Arachnodactyly, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance... OMIM:619036
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Short nose, Protruding ear OMIM:615539
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Rec... OMIM:619580
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Dimple on nasal ... ORPHA:1791
Achondrogenesis
Short nose, Anteverted nares ORPHA:932
Ciliary Dyskinesia, Primary, 14
Male infertility, Situs inversus totalis, Polysplenia, Immotile sperm, Reduced sperm motility OMIM:613807
Acrodysostosis
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Wide nasal bridge, Short nose, H... ORPHA:950
Developmental And Epileptic Encephalopathy 66
Abnormal repetitive mannerisms, Wide nasal bridge OMIM:618067
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Hypergonadotropic hypogonadism, Pericardial effusion, Hypothyroidism, Cardiomyopath... OMIM:212065
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender ... OMIM:300967
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Nephrolithiasis, Obstructive azoospermia OMIM:301060
3P25.3 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nose, Sensorineural hearing impairment, Abnor... ORPHA:435638
Microcephaly-Capillary Malformation Syndrome
Low-set ears, Wide nose, Short nose, Hearing impairment OMIM:614261
2Q37 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Compulsive behaviors, Attent... ORPHA:1001
Developmental And Epileptic Encephalopathy 75
Short nose, Anteverted nares, Wide nasal bridge OMIM:618437
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Anteverted nares, Sensorineural hearing impairment, Short nose, Macrotia ORPHA:391408
Spinocerebellar Ataxia-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Short nose, Anteverted nares ORPHA:1185
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Depressed nasal bridge ORPHA:2835
Huntington Disease-Like 1
Abnormal head movements, Jerky head movements, Restlessness ORPHA:157941
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Anteverted ears, Short nose OMIM:618087
Chylomicron Retention Disease
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Cystinosis, Nephropathic
Skeletal muscle atrophy, Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecul... OMIM:219800
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Car... ORPHA:99125
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a... ORPHA:210122
Toluene Embryopathy
Short nose, Low-set ears, Protruding ear ORPHA:1920
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... OMIM:618278
Brain Malformations With Or Without Urinary Tract Defects
Short nose, Anteverted nares, Overfolded helix, Low-set ears OMIM:613735
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... OMIM:618354
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Goiter, Pituitary hypothyroidism... ORPHA:90674
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose OMIM:618618
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Depressed nasal ridge, Low-set ears ORPHA:163966
Chromosome 15Q11.2 Deletion Syndrome
Bulbous nose, Compulsive behaviors, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... OMIM:615656
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Narrow nasal bridge, Depressed nasal bridge, Wide nasal bridge, Attention deficit hyperactivity d... OMIM:620073
Rh Deficiency Syndrome
Tachycardia, Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
14Q24.1Q24.3 Microdeletion Syndrome
Short nose, Prominent nasal bridge, Wide nasal bridge ORPHA:401935
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity ORPHA:3085
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Bulbous nose, Depressed nasal bridge, Anteverted nares, Short nose OMIM:614105
Waardenburg Syndrome Type 1
Underdeveloped nasal alae, Congenital sensorineural hearing impairment, Wide nasal bridge, Short ... ORPHA:894
Achondrogenesis Type 1B
Short nose, Anteverted nares ORPHA:93298
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Diabetes insipidus, Dec... ORPHA:96180
Progressive Supranuclear Palsy-Corticobasal Syndrome
Jerky head movements, Dysphagia ORPHA:240103
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Streak ovary, Bicuspid aortic valve, Increased circulating go... ORPHA:1772
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Prominent antihelix, Abnormal repetitive mannerisms OMIM:617807
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Aggressive behavior, Abnormal temper tantrums, Low-set ears, Short nose, Abnormal repetitive mann... ORPHA:457279
Charge Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Choanal atresia, External ear malforma... ORPHA:138
3Q29 Microdeletion Syndrome
Prominent nasal bridge, Aggressive behavior, Low-set ears, Attention deficit hyperactivity disord... ORPHA:65286
Femoral-Facial Syndrome
Short nose, Microtia, Low-set ears ORPHA:1988
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Sensorineural hearing impairment, Anosmia, Hypoplasia of the... OMIM:609136
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia ORPHA:276183
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Wide nasal bridge, Low-set ears, Sho... OMIM:618529
Kleefstra Syndrome 1
Abnormal pinna morphology, Anteverted nares, Aggressive behavior, Compulsive behaviors, Abnormal ... OMIM:610253
White-Sutton Syndrome
Hyperactivity, Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Aggressive beha... OMIM:616364
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Kleefstra Syndrome
Anteverted nares, Aggressive behavior, Chronic otitis media, Self-injurious behavior, Thickened h... ORPHA:261494
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Nephroblastoma, Congenital diap... OMIM:194080
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Low-set ears, Attention deficit hyperactivity disorder,... ORPHA:357001
Pfeiffer Syndrome Type 1
Short nose, Depressed nasal bridge, Low-set ears, Hearing impairment ORPHA:93258
Congenital Disorder Of Glycosylation, Type Iu
Short nose OMIM:615042
Achondrogenesis Type 1A
Short nose, Anteverted nares ORPHA:93299
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Male infertility OMIM:300991
Acute Intermittent Porphyria
Hyponatremia, Hypertension, Tachycardia ORPHA:79276
Developmental And Epileptic Encephalopathy 6B
Abnormal repetitive mannerisms OMIM:619317
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Hearing impairment OMIM:256600
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Wide nose, Prominent nasal bridge, Aggressive behavior, Self-mutilation, Abnormalit... ORPHA:251028
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Hyperthyroidism, Elevated circulating creatine kinase concentration, Diabete... ORPHA:254892
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Cardiomegaly, Muscle fiber atrophy, Expanded metacarpals wit... OMIM:182250
8P23.1 Microdeletion Syndrome
Prominent nasal bridge, External ear malformation, Wide nasal bridge, Low-set ears, Attention def... ORPHA:251071
20Q11.2 Microduplication Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, T... ORPHA:363659
Aarskog-Scott Syndrome
Anteverted nares, Wide nasal bridge, Large earlobe, Attention deficit hyperactivity disorder, Sho... OMIM:305400
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia ORPHA:208447
Marshall-Smith Syndrome
Conductive hearing impairment, Short nose, Anteverted nares, Choanal atresia ORPHA:561
Phelan-Mcdermid Syndrome
Aggressive behavior, Bulbous nose, Tongue thrusting, Wide nasal bridge, Protruding ear, Concave n... OMIM:606232
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevat... OMIM:619991
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Low insertion of columella, ... OMIM:619005
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Depressed nasal bridge, Underdeveloped nasal alae, Long nose, Sensorineural hearing impairment, S... ORPHA:457351
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Depressed nasal bridge, Hair-pulling, Wide nasal bridge, Protruding ear, Low-set e... ORPHA:447997
Proteus Syndrome
Decreased muscle mass, Neoplasm of the thymus, Abnormal finger morphology, Abnormal form of the v... ORPHA:744
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Posteriorly rotated ears, Prominent nose, Prominent nasal tip, Short nose... ORPHA:439822
Harel-Yoon Syndrome
Short nose OMIM:617183
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Long penis, Oligozoospermia ORPHA:3000
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreas... OMIM:608013
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose ORPHA:1389
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Urinary incontinence, Cardiomegaly, Limb ataxia, Cardiomyopathy, Impotence, Truncal ataxia OMIM:105210
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Bulbous nose, Wide nasal bridge, Protruding ear, Low-set ears, Short nose OMIM:618571
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, Low-set ears, Short nose, Macrotia OMIM:613026
Donnai-Barrow Syndrome
Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Sensorineural hearing impairme... OMIM:222448
Verheij Syndrome
Short nose, Anteverted nares, Wide nasal bridge, Broad nasal tip OMIM:615583
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms OMIM:301094
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Compulsive behaviors, Attention deficit hyperactivity disorder, Short nose, ... ORPHA:476126
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... ORPHA:555874
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... ORPHA:488618
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Depressed nasal bridge, Prominent antihelix, Inappropriate laughter, Macrotia, Abnormal repetitiv... OMIM:615802
Hypothyroidism Due To Tsh Receptor Mutations
Thyroid hypoplasia, Increased circulating thyroglobulin level, Goiter, Elevated circulating thyro... ORPHA:90673
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... ORPHA:79102
Odontochondrodysplasia
Short nose, Depressed nasal bridge ORPHA:166272
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Sensorineural hearing impairm... OMIM:301040
Isolated Anencephaly
Thymus hyperplasia, Congenital diaphragmatic hernia ORPHA:563609
Gitelman Syndrome
Maternal diabetes, Glucose intolerance, Hypocalcemia, Prominent U wave, Abnormal T-wave, Hashimot... ORPHA:358
Dend Syndrome
Short nose, Anteverted nares, Thickened ears ORPHA:79134
Pallister-Hall-Like Syndrome
Short nose, Depressed nasal bridge OMIM:241800
48,Xxyy Syndrome
Chronic otitis media, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:10
Lowry-Maclean Syndrome
Choanal atresia, Low-set ears, Short nose, Short nasal bridge, Convex nasal ridge ORPHA:2409
Pontocerebellar Hypoplasia, Type 2E
Large earlobe, Wide nose, Short nose OMIM:615851
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Reduce... ORPHA:91355
Jeavons Syndrome
Abnormal head movements ORPHA:139431
Developmental Delay With Or Without Dysmorphic Facies And Autism
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Bulbo... OMIM:618454
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Mirizzi Syndrome
Tachycardia, Hyperbilirubinemia ORPHA:521219
Bohring-Opitz Syndrome
Facial hypotonia, Nephroblastoma, Ulnar deviation of the wrist, Cardiomegaly, Inability to walk, ... ORPHA:97297
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620242
Microphthalmia With Limb Anomalies
Posteriorly rotated ears, Depressed nasal bridge, Flared nostrils, Low-set ears, Short nose OMIM:206920
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:610042
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Choanal atresia ORPHA:83
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Reduced circulating transferrin concentration, Intestinal bleeding, Hy... ORPHA:90363
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Abnormal repetitive mannerisms, Wide nasal bridge, Protruding ear ORPHA:2479
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics OMIM:619725
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Abnormal repetitive mannerisms, Low-set ears, Overfriendliness OMIM:616579
Fibrochondrogenesis 2
Short nose, Anteverted nares OMIM:614524
Beck-Fahrner Syndrome
Facial hypotonia, Hip dysplasia, Ventricular septal defect, Cardiomegaly OMIM:618798
Alg12-Cdg
Hyponatremia, Decreased serum insulin-like growth factor 1, Muscular ventricular septal defect, B... ORPHA:79324
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Low-set ears, Depressed nasal bridge, Anteverted nares, Short nose ORPHA:314655
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, Abnor... ORPHA:3472
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Short nose, Anteverted nares ORPHA:1915
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Jaberi-Elahi Syndrome
Short nose, Depressed nasal bridge, Low-set ears, Protruding ear OMIM:617988
Autosomal Dominant Omodysplasia
Short nose, Depressed nasal bridge ORPHA:93328
Micro Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Wide nasal bridge, Short nose, Macrotia ORPHA:2510
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Prominent nasal bridge, Broad nasal tip, Sensorineural hearing impairment, Wide nasal bridge, Sho... OMIM:300749
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Posteriorly rotated ears, Broad nasal tip, Sensorineural hearing impairment, Wide nasal bridge, S... OMIM:239300
Rabson-Mendenhall Syndrome
Increased pineal volume, Ventricular septal defect, Impaired glucose tolerance, Precocious pubert... ORPHA:769
Lethal Acantholytic Erosive Disorder
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Clinodactyly of the 5... ORPHA:158687
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Low-set ears, Short nose OMIM:617822
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Short nose, Wide nasal bridge, Hearing impairment, Broad nasal tip OMIM:614749
Tetrasomy 12P
Short nose, Anteverted nares ORPHA:884
Tetrasomy 5P
Posteriorly rotated ears, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose ORPHA:3309
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Wide nasal bridge, Low-set ears, Dysphagia, Short nose, Abnor... ORPHA:319182
Cadds
Short nose, Sensorineural hearing impairment ORPHA:369942
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Impulsivity, Protruding ear, Microtia, Attention deficit hyperactivity di... OMIM:301030
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Depressed nasal bridge, Sensorineural hearing impairment, Head-banging, Self-injurious behavior, ... OMIM:619575
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Abdominal situs ambiguus, Male infertility, Immotile sperm OMIM:614874
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Anteverted nares, Broad nasal tip, Prominent nose, Head-banging, Attention d... ORPHA:177907
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Anteverted nares, Short nose ORPHA:163649
Cardiofaciocutaneous Syndrome 1
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Bulbous nose, Tongue thrustin... OMIM:115150
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Posteriorly rotated ears, Long nose, Low-set ears, Short nose OMIM:618590
Childhood Absence Epilepsy
Punding, Jerky head movements, Attention deficit hyperactivity disorder ORPHA:64280
Hypomandibular Faciocranial Dysostosis
Low-set ears, Anteverted nares, Choanal stenosis, Short nose ORPHA:1790
Noonan Syndrome
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... ORPHA:648
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Trichothiodystrophy 4, Nonphotosensitive
Short nose, Macrotia, Anteverted nares OMIM:234050
Warburg Micro Syndrome 2
Short nose, Macrotia, Prominent nasal bridge, Asymmetry of the ears OMIM:614225
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Low-set ears, Depressed nasal bridge, Anteverted nares, Short nose OMIM:615398
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Elevated circulating creatine kinase concentration, Premature ventricular contraction OMIM:617072
Steinert Myotonic Dystrophy
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... ORPHA:273
White-Sutton Syndrome
Hyperactivity, Posteriorly rotated ears, Depressed nasal bridge, Broad nasal tip, Aggressive beha... ORPHA:468678
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Atresia of the external auditory canal, Low-set ears, Sh... ORPHA:93259
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose OMIM:614701
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Anosmia ORPHA:1295
Meier-Gorlin Syndrome 6
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Underdeveloped nasal alae, De... OMIM:616835
Cenani-Lenz Syndrome
Short nose, Convex nasal ridge, Hearing impairment, Protruding ear ORPHA:3258
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... ORPHA:439
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Stenosis of the external auditory canal, Low-set ears, S... ORPHA:93260
Distal Duplication 5Q
Short nose, Macrotia, Prominent nasal bridge, Low-set ears ORPHA:96097
3C Syndrome
Short nose, Depressed nasal bridge, Wide nasal bridge, Low-set ears ORPHA:7
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
White-Kernohan Syndrome
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Low-set ears, Attention defi... OMIM:619426
Familial Bicuspid Aortic Valve
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... ORPHA:402075
Peho Syndrome
Short nose OMIM:260565
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Male infertility OMIM:612444
Peho Syndrome
External ear malformation, Short nose, Macrotia, Anteverted nares ORPHA:2836
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Abnormal repetitive mannerisms ORPHA:927
Coffin-Siris Syndrome
Hyperactivity, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Aggressive behavior, Re... ORPHA:1465
Down Syndrome
Depressed nasal bridge, Depressed nasal ridge, Round ear, Conductive hearing impairment, Short nose ORPHA:870
Cutis Laxa, Autosomal Recessive, Type Iia
Short nose, Anteverted nares, Low-set ears OMIM:219200
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Underdeveloped nasal alae, Wide nasal bridge, Short nose, He... OMIM:193700
Degcags Syndrome
Tachycardia, Ventricular septal defect, Small for gestational age, Pulmonic stenosis, Hyperbiliru... OMIM:619488
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Robinow Syndrome, Autosomal Dominant 2
Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairm... OMIM:616331
C Syndrome
Posteriorly rotated ears, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose OMIM:211750
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small earlobe, Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Short columella, ... ORPHA:364577
Rhombencephalosynapsis
Low-set, posteriorly rotated ears, Short nose, Anteverted nares ORPHA:59315
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short nose, Microtia, Depressed nasal bridge, Low-set ears OMIM:616723
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short nose, Sensorineural hearing impairment, Wide nasal bridge, Broad nasal tip OMIM:614207
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Short sperm flagella, Coiled sperm flagella, Male infertility OMIM:620197
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Sh... ORPHA:560
Johanson-Blizzard Syndrome
Abnormal nostril morphology, Short nose, Sensorineural hearing impairment, Underdeveloped nasal alae ORPHA:2315
Chromosome 16P13.3 Duplication Syndrome
Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Bulbous nose, Wide... OMIM:613458
Macrocephaly/Autism Syndrome
Recurrent otitis media, Short nose, Depressed nasal bridge OMIM:605309
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Se... OMIM:246200
Pitt-Hopkins Syndrome
Flared nostrils, Cupped ear, Wide nasal bridge, Self-injurious behavior, Thickened helices, Abnor... OMIM:610954
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Concave nasal ridge, Anteverted nares, Short nose OMIM:613038
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Cupped ear, Overfolded helix,... OMIM:614080
Desmosterolosis
Low-set, posteriorly rotated ears, Depressed nasal bridge, Abnormality of the nose, Abnormal earl... ORPHA:35107
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Bulbous nose, Low-set ears, Round ear, Short nose, Hearing impairment OMIM:614114
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Repetitive compulsive behavior, Self-biting, Prominent nasal tip, Short nose, Abnormal repetitive... ORPHA:522077
Teebi Hypertelorism Syndrome 1
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose OMIM:145420
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Wide nasal bridge, Microtia, Short columella, Low-set ears, Short nose OMIM:613603
Warburg Micro Syndrome 3
Short nose, Macrotia OMIM:614222
Brachytelephalangic Chondrodysplasia Punctata
Mixed hearing impairment, Broad nasal tip, Depressed nasal ridge, Nasal congestion, Short columel... ORPHA:79345
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Cupped ear, Low-set ears, S... OMIM:602398
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Short nose, Low hanging columella OMIM:615803
Fibrochondrogenesis 1
Depressed nasal bridge, Abnormal pinna morphology, Anteverted nares, Low-set ears, Short nose OMIM:228520
Poikiloderma With Neutropenia
Depressed nasal bridge, Underdeveloped nasal alae, Recurrent sinusitis, Recurrent otitis media, S... OMIM:604173
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Abnormal pinna morphology, Depressed nasal bridge, Anteverted nares, Short nose OMIM:217980
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Prolidase Deficiency
Short nose, Concave nasal ridge, Depressed nasal bridge OMIM:170100
Smith-Kingsmore Syndrome
Short nose, Depressed nasal bridge OMIM:616638
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Short nose, Anteverted nares, Low-set ears, Sensorineural hearing impairment OMIM:612394
Nablus Mask-Like Facial Syndrome
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Overfolded... OMIM:608156
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Pfeiffer Syndrome
Depressed nasal bridge, Choanal stenosis, Choanal atresia, Short nose OMIM:101600
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Obsessive-compulsive trait, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:168491
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Failure to thrive, Ventricular septal defect, Hypocholesterolemia OMIM:244450
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi... ORPHA:3464
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Posteriorly rotated ears, Broad nasal tip, Aggressive behavior, Hair-pulling, Polyph... OMIM:620330
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Short nose ORPHA:496790
Cerebral Creatine Deficiency Syndrome 1
Abnormal repetitive mannerisms, Underfolded superior helices, Attention deficit hyperactivity dis... OMIM:300352
Double Outlet Left Ventricle
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... ORPHA:3427
Desbuquois Dysplasia 1
Short nose, Concave nasal ridge, Depressed nasal bridge OMIM:251450
Otopalatodigital Syndrome, Type I
Conductive hearing impairment, Short nose, Wide nasal bridge OMIM:311300
Trisomy 10P
Depressed nasal bridge, Anteverted nares, Abnormal auditory evoked potentials, Abnormality of the... ORPHA:171929
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Protruding ear, Tics, Compulsive behaviors, Otitis media, Abnormal repetitive mannerisms, Restric... OMIM:619475
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Abnormality of the nose, Underdeveloped nasal alae, Extern... ORPHA:2710
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Bulbous nose, C... OMIM:309590
Proximal 16P11.2 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal repetitive mannerisms, ... ORPHA:261197
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Increased body mass index, Enlarged pituitary gland,... ORPHA:300373
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nose, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Recurrent otitis media,... OMIM:213980
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Posteriorly rotated ears, Narrow nasal ridge, Bulbous nose, Sensorineural hearing ... OMIM:619512
Vater/Vacterl Association
Ectopic kidney, Preaxial polydactyly, Patent urachus, Triphalangeal thumb, Vesicoureteral reflux,... OMIM:192350
Ruvalcaba Syndrome
Short nose, Convex nasal ridge ORPHA:3121
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Abnormal repetitive mannerisms OMIM:619428
Tangier Disease
Left ventricular hypertrophy, Coronary artery stenosis, Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Short nose, Posteriorly rotated ears, Low-set ears, Dysphagia OMIM:617527
Trisomy 20P
Low-set, posteriorly rotated ears, Anteverted nares, Protruding ear, Abnormal antihelix morpholog... ORPHA:261318
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Raine Syndrome
Mixed hearing impairment, Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Abno... OMIM:259775
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Short nose, Depressed nasal bridge, Low-set ears ORPHA:1812
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Posteriorly rotated ears, Microtia, Low-set ears, Short nose, Hearing imp... OMIM:601353
Bartsocas-Papas Syndrome
Short nose, Underdeveloped nasal alae ORPHA:1234
Mietens Syndrome
Wide nose, Wide nasal bridge, Short nose ORPHA:2557
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia, Male infertility OMIM:619607
Spermatogenic Failure 14
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... OMIM:615842
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Anteverted nares, Broad nasal tip, Prominent nasolabial fold, Low-set ears, Short nose ORPHA:357074
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Low-set ears, Short nose OMIM:200600
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Low-set ears, Recurre... OMIM:154780
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619121
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:98784
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Broad nasal tip, Aggressive beha... ORPHA:96121
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements OMIM:245348
Atypical Werner Syndrome
Hypertriglyceridemia, Telangiectasia of the skin, Diabetes mellitus, Abnormal circulating leptin ... ORPHA:79474
Temtamy Preaxial Brachydactyly Syndrome
Severe sensorineural hearing impairment, Short nose, Low-set ears ORPHA:363417
Opsismodysplasia
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Low-set ears, Short nose OMIM:258480
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Abnormal pinna morphology, Underdeveloped nasal alae, Cond... OMIM:164200
Musculocontractural Ehlers-Danlos Syndrome
Low-set, posteriorly rotated ears, External ear malformation, Protruding ear, Prominent nasolabia... ORPHA:2953
Microform Holoprosencephaly
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Short nose ORPHA:280200
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Sensorineural hearing impairment, Low-set ears, Short nose, Convex nasal ... OMIM:300661
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular... OMIM:163950
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Low-set ears, Shor... OMIM:257300
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Short nose, Impaired oropharyngeal swallow response, Sensorine... ORPHA:521426
Au-Kline Syndrome
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Sensorineur... OMIM:616580
Acrofacial Dysostosis, Catania Type
Low-set, posteriorly rotated ears, Short nose ORPHA:1786
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose ORPHA:1129
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Anteverted nares, Posteriorly rotated ears, Aggressive behavior, Bulbous nos... OMIM:601358
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cardiomegaly, Neonatal alloimmune thrombocytopenia, Hepato... ORPHA:51
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... OMIM:608612
Cerebrofaciothoracic Dysplasia
Low-set, posteriorly rotated ears, Wide nose, Short nose ORPHA:1394
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Depressed nasal bridge, Anteverted nares, Long nose, Bulbous nose, Short nose, Abnormal repetitiv... ORPHA:508533
Kleefstra Syndrome Due To 9Q34 Microdeletion
Short nose, Anteverted nares, Hearing impairment ORPHA:96147
Charge Syndrome
Mixed hearing impairment, Choanal atresia, Aplasia of the semicircular canal, Sensorineural heari... OMIM:214800
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Failure to thrive in infancy, Cardiomegaly, Pericardi... ORPHA:51608
Plague
Tachycardia, Hematemesis, Endocarditis, Hypotension, Arrhythmia ORPHA:707
Cerebrooculonasal Syndrome
Anteverted nares, Prominent nasal bridge, Proboscis, Posteriorly rotated ears, Low-set ears, Cond... OMIM:605627
Cystic Fibrosis
Male infertility, Hepatomegaly, Cor pulmonale, Biliary cirrhosis, Hypercalciuria, Hepatosplenomeg... OMIM:219700
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Huntington Disease-Like 3
Abnormal head movements ORPHA:157946
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly OMIM:208000
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Prominent nasal bridge, Sensorineural hearing impairment, Short nose, ... OMIM:601812
Monosomy 9Q22.3
Hyperactivity, Short nose, Thickened ears, Low-set ears ORPHA:77301
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Wide nasal bridge, Microtia, Short nose, Hearing impairment ORPHA:2282
Congenital Disorder Of Glycosylation, Type Iie
Low-set ears, Wide nose, Short nose, Sensorineural hearing impairment OMIM:608779
Cystinosis
Polydipsia, Abnormal repetitive mannerisms ORPHA:213
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Stuve-Wiedemann Syndrome 1
Anteverted nares, Low-set ears, Dysphagia, Wide nasal base, Short nose, Low hanging columella OMIM:601559
Malan Syndrome
Short nose OMIM:614753
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Precocious puberty, Hypertension, Hypoalbuminemia, Elevated circulatin... OMIM:270400
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Supravalvar pul... OMIM:620185
Rett Syndrome
Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing ORPHA:778
Miller-Dieker Lissencephaly Syndrome
Posteriorly rotated ears, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose OMIM:247200
Cardiospondylocarpofacial Syndrome
Anteverted nares, Posteriorly rotated ears, Congenital sensorineural hearing impairment, Bulbous ... OMIM:157800
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum leptin, Hyperinsulinemia, Ventricu... OMIM:269700
Baller-Gerold Syndrome
Narrow nasal bridge, Conductive hearing impairment, Short nose, Prominent nasal bridge ORPHA:1225
Den Hoed-De Boer-Voisin Syndrome
Posteriorly rotated ears, Agitation, Dysphagia, Abnormal repetitive mannerisms, Stereotypical han... OMIM:619229
Trichothiodystrophy 1, Photosensitive
Short nose, Macrotia, Protruding ear OMIM:601675
Hypotonia, Ataxia, And Delayed Development Syndrome
Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Broad nasal tip, Overfolded h... OMIM:617330
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short nose, Sensorineural hearing impairment, Depressed nasal bridge, Underdeveloped nasal alae OMIM:616007
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Anteverted nares, Short nose, Sensorineural hearing impairment ORPHA:2719
Developmental And Epileptic Encephalopathy 2
Abnormal repetitive mannerisms, Anteverted nares OMIM:300672
Chops Syndrome
Thickened helices, Short nose, Anteverted nares, Hearing impairment OMIM:616368
Chromosome 14Q11-Q22 Deletion Syndrome
Short nose, Depressed nasal bridge, Wide nasal bridge, Low-set ears OMIM:613457
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... OMIM:218700
Robinow Syndrome, Autosomal Dominant 3
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose, Hearing im... OMIM:616894
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Asplenia, Male infertility OMIM:244400
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Thickened helices, S... ORPHA:1340
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Male infertility OMIM:614935
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Atrial septal defect... OMIM:309801
Lipodystrophy, Congenital Generalized, Type 1
Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Cardiomyopathy... OMIM:608594
Monosomy 9P
Depressed nasal bridge, Anteverted nares, Choanal atresia, Abnormal antihelix morphology, Anotia,... ORPHA:261112
Renal And Mullerian Duct Hypoplasia
Short nose OMIM:266810
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Short ear, Prominent inferior crus of antihelix, Anteverted nares, Depressed... OMIM:618332
Ayme-Gripp Syndrome
Depressed nasal bridge, Posteriorly rotated ears, Sensorineural hearing impairment, Wide nasal br... OMIM:601088
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Long nose, Bulbous no... OMIM:619522
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Sensorineural hearing impairment, Abnormal repetitive mannerisms, Bilateral sensorineural hearing... ORPHA:300570
Faciodigitogenital Syndrome, Autosomal Recessive
Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Microtia, Short nose, Hearing... OMIM:227330
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Arachnodactyly, Bicuspid aortic valve, Scoliosis, Cardiomegaly ORPHA:91387
Holoprosencephaly 7
Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, Depressed nasal tip, Hypoplast... OMIM:610828
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Depressed nasal bridge, Anteverted nares, Repetitive compulsive behavior, Abnormal Eustachian tub... ORPHA:513456
Opsismodysplasia
Short nose, Depressed nasal bridge ORPHA:2746
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Anteverted nares, Choanal atresia, Narrow nose, Posteriorly rotated ears, Overfolded helix, Abnor... OMIM:301044
Lathosterolosis
Bulbous nose, Anteverted nares, Short nose, Hearing impairment ORPHA:46059
Congenital Heart Defects And Skeletal Malformations Syndrome
Long nose, Short nose, Narrow nose OMIM:617602
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Short nose ORPHA:329178
Toriello-Lacassie-Droste Syndrome
Short nose, Anteverted nares, Abnormality of the ear, Hearing impairment ORPHA:3339
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Cardiac myxoma, Hypertension, Congestive heart failure OMIM:181270
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short nose, Epistaxis OMIM:277450
Pallister-Hall Syndrome
Depressed nasal bridge, Anteverted nares, Choanal atresia, Posteriorly rotated ears, Microtia, At... OMIM:146510
Mucopolysaccharidosis Type 2
Otosclerosis, Wide nose, Hyperactivity, Impulsivity, Aggressive behavior, Sensorineural hearing i... ORPHA:580
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anteverted nares, Overfolded helix, Large fleshy ears, Microtia, Prominent tragus, Dysphagia, Sho... ORPHA:280633
Autosomal Recessive Faciodigitogenital Syndrome
Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Overfolded helix, Short nose ORPHA:1974
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Posteriorly rotated ears, Depressed nasal bridge, Aggressive behavior, Bifid nose, Recurrent otit... OMIM:301066
Noonan Syndrome 3
Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Low-set ears, Thickened hel... OMIM:609942
Deeah Syndrome
Low-set ears, Dysphagia, Prominent nasal tip, Short nose, Self-mutilation, Hearing impairment OMIM:619004
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Macrotia, Abnormal repetitive mannerisms, Dysphagia ORPHA:496641
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Bannayan-Riley-Ruvalcaba Syndrome
Wide nose, Macrotia, Anteverted nares, Short nose ORPHA:109
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Depressed nasal bridge, Abnormality of the ear, Increased size of nasopharyngeal adenoids, Low-se... ORPHA:457395
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements ORPHA:247815
Kinsship Syndrome
Bulbous nose, Low-set ears, Bruxism, Abnormal repetitive mannerisms, Low hanging columella OMIM:619297
Sarcoidosis
Abnormal cardiac ventricular function, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Portal... ORPHA:797
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... OMIM:248370
Marshall-Smith Syndrome
Depressed nasal bridge, Anteverted nares, Choanal atresia, Recurrent upper respiratory tract infe... OMIM:602535
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Polydipsia, Enlarged vestibular aqueduct ORPHA:18
Otopalatodigital Syndrome Type 2
Abnormal pinna morphology, Depressed nasal bridge, Low-set ears, Short nose, Hearing impairment ORPHA:90652
Trisomy 8P
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Recurrent upper respiratory t... ORPHA:264450
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Depressed nasal bridge, Anteverted nares, Prominent nasal br... OMIM:619325
Gapo Syndrome
Depressed nasal bridge, Anteverted nares, Short nose, Protruding ear OMIM:230740
Witteveen-Kolk Syndrome
Wide nose, Hyperactivity, Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, Under... OMIM:613406
Congenital Myopathy 22B, Severe Fetal
Short nose, Wide nasal bridge, Low-set ears OMIM:620369
Jacobsen Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Aplasia/Hypoplasia of the earlobes, Wide nas... ORPHA:2308
Aymé-Gripp Syndrome
Posteriorly rotated ears, Depressed nasal bridge, Sensorineural hearing impairment, Stenosis of t... ORPHA:1272
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Prominent nasal bridge, Wide nasal bridge, Self-injurious beha... ORPHA:468631
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Prominent nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Aggressive behavior, Protrudi... ORPHA:268261
Joubert Syndrome 6
Abnormal repetitive mannerisms OMIM:610688
Peroxisome Biogenesis Disorder 4B
Short nose, Sensorineural hearing impairment OMIM:614863
Microlissencephaly-Micromelia Syndrome
Short nose ORPHA:50810
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Hyperactivity, Anteverted nares, Posteriorly rotated ears, Aggressive behavior, Bulbou... OMIM:614756
Blomstrand Lethal Chondrodysplasia
Low-set ears, Depressed nasal bridge, Anteverted nares, Short nose ORPHA:50945
Schneckenbecken Dysplasia
Short nose OMIM:269250
Toriello-Carey Syndrome
Abnormal pinna morphology, Anotia, Low-set ears, Thickened helices, Short nose, Hearing impairment ORPHA:3338
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Protruding ear, Low-set ears, Attention deficit hyperactivity disorder... OMIM:618820
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Low... ORPHA:536467
Schinzel-Giedion Syndrome
Abnormality of the stapes, Broad nasal tip, Dysphagia, Abnormal cochlea morphology, Large earlobe... ORPHA:798
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Depressed nasal bridge, Choanal atresia, Abnormal pinna morphology, Bulbous nose, Abnormal earlob... ORPHA:95699
Osteoglophonic Dysplasia
Depressed nasal bridge, Anteverted nares, Choanal atresia, Nasal congestion, Low-set ears, Short ... OMIM:166250
Khan-Khan-Katsanis Syndrome
Short nose, Dysphagia, Sensorineural hearing impairment OMIM:618460
Bloom Syndrome
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Premature... ORPHA:125
Orofaciodigital Syndrome Type 4
Wide nose, Microtia, third degree, Posteriorly rotated ears, Choanal atresia, Depressed nasal rid... ORPHA:2753
Arboleda-Tham Syndrome
Posteriorly rotated ears, Prominent nasal bridge, Broad nasal tip, Bifid nasal tip, Anteverted ea... OMIM:616268
Carey-Fineman-Ziter Syndrome
Short nose, Anteverted nares ORPHA:1358
Trisomy 18
Low-set, posteriorly rotated ears, Pointed helix, Short nose, Choanal atresia ORPHA:3380
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Narrow nasal tip, Prominent nasal bridge, Protruding ear, Macrotia, Abnormal repet... ORPHA:464306
Congenital Tracheomalacia
Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re... ORPHA:95430
Jacobsen Syndrome
Low-set ears, Depressed nasal bridge, Anteverted nares, Short nose OMIM:147791
46,Xy Partial Gonadal Dysgenesis
Male infertility, Hypoplasia of penis, Streak ovary, Hypergonadotropic hypogonadism, Hypospadias,... ORPHA:251510
Partial Androgen Insensitivity Syndrome
Male infertility, Hypospadias, Elevated circulating luteinizing hormone level, Bilateral cryptorc... ORPHA:90797
Autosomal Recessive Robinow Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, C... ORPHA:1507
Atelosteogenesis, Type I
Short nose, Depressed nasal bridge, Low-set ears OMIM:108720
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Macroglossia ORPHA:96191
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short nose, Wide nasal bridge OMIM:618005
Rothmund-Thomson Syndrome, Type 2
Depressed nasal bridge, Underfolded helix, Overfolded helix, Prominent antihelix, Short nose OMIM:268400
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hyposmia, Overfolded helix, Abnormal repetitive mannerisms, Low-set ears OMIM:618653
Prader-Willi Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Hypogonadotr... OMIM:176270
Robinow Syndrome
Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Bro... ORPHA:97360
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Depressed nasal bridge, Wide nasal bridge, Low-set ears, Jerky head movements, Hearing impairment ORPHA:369837
Geleophysic Dysplasia 1
Thickened helices, Short nose, Anteverted nares OMIM:231050
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Abnormal renal morphology, Obstructive azoospermia, Oligozoospermia ORPHA:48
Lathosterolosis
Conductive hearing impairment, Short nose, Anteverted nares, Wide nasal bridge OMIM:607330
Robinow Syndrome, Autosomal Recessive 1
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Low-set ea... OMIM:268310
Autosomal Dominant Robinow Syndrome
Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge,... ORPHA:3107
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormal repetitive mannerisms, Prominent nasal bridge, Attention deficit hyperactivity disorder,... ORPHA:464311
Spondylocarpotarsal Synostosis Syndrome
Mixed hearing impairment, Anteverted nares, Broad nasal tip, Sensorineural hearing impairment, Sh... OMIM:272460
Coffin-Lowry Syndrome
Wide nose, Anteverted nares, Sensorineural hearing impairment, Thick nasal septum, Protruding ear... OMIM:303600
Acrocallosal Syndrome
Posteriorly rotated ears, Abnormal pinna morphology, Wide nasal bridge, Low-set ears, Short nose,... OMIM:200990
Arterial Tortuosity Syndrome
Short nose, Macrotia ORPHA:3342
Spondylodysplastic Ehlers-Danlos Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Low-set ears, Short ... ORPHA:536471
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Ring Chromosome 7 Syndrome
Small earlobe, Anteverted nares, Prominent nasal bridge, Prominent crus of helix, Wide nasal brid... ORPHA:1449
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Choanal stenosis, Low-... OMIM:269150
Ctcf-Related Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Anteverted nares, Broad nasal tip, Cupped ear, Short columella... ORPHA:363611
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short nose, Convex nasal ridge ORPHA:90154
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353281
Developmental And Epileptic Encephalopathy 100
Abnormal repetitive mannerisms, Depressed nasal bridge, Dysphagia, Broad nasal tip OMIM:619777
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Anteverted nares, Sensorineural hear... ORPHA:444077
Sandifer Syndrome
Abnormal head movements ORPHA:71272
Specc1L-Related Hypertelorism Syndrome
Prominent nasal bridge, Wide nasal bridge, Abnormal helix morphology, Low-set ears, Short nose ORPHA:1519
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Bulbous nose, Depressed nasal bridge, Anteverted nares, Short nose OMIM:271510
Legius Syndrome
Paroxysmal atrial tachycardia, Xanthelasma, Pulmonic stenosis, Mitral valve prolapse ORPHA:137605
Bartsocas-Papas Syndrome 1
Underdeveloped nasal alae, Cupped ear, Microtia, Low-set ears, Short nose OMIM:263650
Complete Androgen Insensitivity Syndrome
Male infertility, Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral ... ORPHA:99429
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent nose, Simple ear, Bul... OMIM:612474
Niemann-Pick Disease, Type C2
Abnormal repetitive mannerisms, Dysphagia OMIM:607625
Okamoto Syndrome
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, Low-set e... ORPHA:2729
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Norrie Disease
Narrow nasal bridge, Sensorineural hearing impairment, Protruding ear, Abnormal cochlea morpholog... ORPHA:649
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... ORPHA:1677
Phocomelia, Schinzel Type
Short nose, Protruding ear ORPHA:2879
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Cupped ear, Wide nasal bridge, Overfolded helix, Short nose, Hearing impairment OMIM:609945
Cornelia De Lange Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Choanal atresia, Sen... ORPHA:199
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Sensorineural hearing impairment, Depr... ORPHA:1606
Zttk Syndrome
Depressed nasal bridge, Wide nasal bridge, Protruding ear, Low-set ears, Short nose OMIM:617140
Frontofacionasal Dysplasia
Bifid nose, Short nose, Midline defect of the nose, Underdeveloped nasal alae OMIM:229400
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Short nose, Rhinitis, Depressed nasal bridge, Underdeveloped nasal alae OMIM:305100
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms, Wide nasal bridge, Hearing impairment ORPHA:508498
Primrose Syndrome
Restlessness, Calcification of the auricular cartilage, Depressed nasal bridge, Anteverted nares,... OMIM:259050
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Posteriorly rotated ears, Protruding ear, Short columella, Low-set ears, Short nose, Hearing impa... OMIM:601776
Simpson-Golabi-Behmel Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Wide nasal bridge, Abnormal helix morphology... ORPHA:373
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Depressed nasal bridge, Impulsivity, Prominent nose, Dysphagia, Prominent nasolabial fold, Stereo... OMIM:619503
Molybdenum Cofactor Deficiency, Complementation Group B
Short nose OMIM:252160
Molybdenum Cofactor Deficiency, Complementation Group A
Short nose OMIM:252150
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Wide nasal bridge, Narrow naris, Short... OMIM:617157
Lipodystrophy, Familial Partial, Type 7
Narrow nasal ridge, Low-set ears, Dysphagia, Short nose, Tinnitus OMIM:606721
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353277
Stickler Syndrome
Anteverted nares, Depressed nasal bridge, Sensorineural hearing impairment, Depressed nasal ridge... ORPHA:828
Acromesomelic Dysplasia 1
Short nose OMIM:602875
Robinow Syndrome, Autosomal Dominant 1
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Low-set ea... OMIM:180700
C Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Hypoplasia of the ea... ORPHA:1308
Fontaine Progeroid Syndrome
Depressed nasal bridge, Posteriorly rotated ears, Low-set ears, Conductive hearing impairment, Sh... OMIM:612289
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Protruding ear, Self-injurious behavior, Compulsive behaviors,... ORPHA:534
Pallister-Hall Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Depressed nasal ridge, Micr... ORPHA:672
Femoral-Facial Syndrome
Short nose, Abnormal pinna morphology, Low-set ears, Underdeveloped nasal alae OMIM:134780
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Depressed nasal bridge, Wide nasal bridge, Protruding ear, Low-set ears, Dysphagia, Short nose, H... ORPHA:500150
Geleophysic Dysplasia 2
Short nose OMIM:614185
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Sensorineural hearing impairment, Wide nasal bridge, Conductive hearin... OMIM:194190
Williams-Beuren Syndrome
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Sensorineural hearing impairment, Larg... OMIM:194050
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Peters Plus Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Short columella, Con... ORPHA:709
Omodysplasia 1
Short nose, Depressed nasal bridge, Wide nasal bridge OMIM:258315
Aspartylglucosaminuria
Chronic otitis media, Short nose, Microtia, Wide nasal bridge ORPHA:93
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Bulbous nose, Abnormal repetitive mannerisms OMIM:616682
Penile Agenesis
Posteriorly rotated ears, Short nose, Depressed nasal bridge ORPHA:49
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Depressed nasal bridge, Depressed nasal ridge, Concave nasal ridge, Short nose, Enlarged naris OMIM:271665
Sponastrime Dysplasia
Wide nose, Aplasia of the nasal bone, Anteverted nares, Depressed nasal bridge, Hypoplasia of the... ORPHA:93357
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short nose, Convex nasal ridge OMIM:619321
Pmm2-Cdg
Pericarditis, Angina pectoris, Hypogonadotropic hypogonadism, Elevated circulating growth hormone... ORPHA:79318
Nmda Receptor Encephalitis
Hypersexuality, Agitation, Abnormal repetitive mannerisms ORPHA:217253
Mowat-Wilson Syndrome
Posteriorly rotated ears, Uplifted earlobe, Sensorineural hearing impairment, Wide nasal bridge, ... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Posteriorly rotated ears, Uplifted earlobe, Sensorineural hearing impairment, Wide nasal bridge, ... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Posteriorly rotated ears, Uplifted earlobe, Sensorineural hearing impairment, Wide nasal bridge, ... ORPHA:261552
Lowe Oculocerebrorenal Syndrome
Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Pallister-Killian Syndrome
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Stenosis o... OMIM:601803

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 Lrig3

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 Lrig3.

No publications found that use IMPC mice or data for Lrig3.

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MGI Allele Allele Type Produced
Lrig3em1(IMPC)Ccpcz Inter-exon deletion Mice
Lrig3tm208514(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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