Registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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 Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... 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
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessive insulin res... ORPHA:324575
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Inc... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Inc... ORPHA:276580
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Increased C-peptide l... ORPHA:276556
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Myofiber disarray, M... OMIM:619897
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... OMIM:614954
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... OMIM:612158
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... OMIM:601493
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Left atrial enlargement, Atri... OMIM:615770
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Palpitation... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Sudden cardiac death, Impaired glucose tolerance, Hypertrigl... OMIM:610947
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Familial Dilated Cardiomyopathy
Failure to thrive, Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular... ORPHA:217607
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Reactive ... ORPHA:276608
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Atrial Standstill
Abnormal heart morphology, Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpita... ORPHA:1344
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... ORPHA:563
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Heart murmur, Ventricular se... ORPHA:860
Coronary Arterial Fistula
Angina pectoris, Abnormal heart morphology, Abnormal left ventricular function, Bacterial endocar... ORPHA:2041
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:608320
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Sudd... OMIM:604169
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Cardiomyopathy, Dilated, 2F
Increased circulating brain natriuretic peptide concentration, Increased left ventricular end-dia... OMIM:619747
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking, Prominent n... ORPHA:100973
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... OMIM:108770
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Myocardial fibrosis, Left ventricular hypertrophy, Palpitations, Ventricular tac... OMIM:613873
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Left ventricular n... OMIM:616249
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Elevated circulating creatine kinase concentration, Increased left ventricu... OMIM:615184
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Chronic Atrial And Intestinal Dysrhythmia
Failure to thrive, Bicuspid aortic valve, Decreased body weight, Pulmonic stenosis, Mitral regurg... OMIM:616201
Ventricular Tachycardia, Familial
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block OMIM:192605
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:255100
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Short nose, Low-set, posteriorly rotated ears ORPHA:2015
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Jerky head movements, Involuntary movements, Postur... ORPHA:98807
Maxillonasal Dysplasia, Binder Type
Large earlobe, Depressed nasal bridge, Short nose, Short columella OMIM:155050
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Ventricular fibrillation, Syncope OMIM:603829
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Atrial septal defect, Hypoproteinemia, Hyperammonemia, Small for gestational age, H... ORPHA:26793
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Hyperthyroidism, Palpitations, Tachycardia, Weight loss, Goiter OMIM:188580
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Systolic heart murmur, Elevated pulmonary artery pressure, Right b... ORPHA:1329
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Autism
Motor stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
Motor stereotypy OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy OMIM:608636
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Anteverted nares, Depressed nasal bridge, Short nose, Low-set ears OMIM:614069
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Broad nasal tip, Spasticity OMIM:617393
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose, Round ear ORPHA:1450
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Prominent nasal tip, Hyperkinetic movements, Short nose, Choreoathetosi... OMIM:618218
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Absent ankle pulse, Myocardial infarction, Abnormality of venous ph... ORPHA:90064
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, ST segment elevation, Cardiomyocyte hypertrophy, T-wave inversion, Vent... ORPHA:263297
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... ORPHA:66529
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... ORPHA:293964
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab... ORPHA:216694
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Gait ataxia, Posteriorly rotated ears, Macrotia, Low-set ears, Prominent nasal ... OMIM:609425
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine kinase concentra... OMIM:212138
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, Right ventricular dilatation, First degree atr... OMIM:615616
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Short nose, Anteverted nares, Low-set ears, Wide nasal bridge OMIM:616430
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Prominent nasal bridge, Stereotypical body rocking, Poor coordination OMIM:309548
Fatty Acyl-Coa Reductase 1 Deficiency
Spastic tetraparesis, Depressed nasal bridge, Short nose, Macrotia ORPHA:438178
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose OMIM:218010
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hypokalemia, Hyperthyroidism, Tachycardia, Weight lo... OMIM:613239
Adenylosuccinate Lyase Deficiency
Anteverted nares, Low-set ears, Short nose ORPHA:46
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Atri... OMIM:613690
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Dil... OMIM:600649
Variegate Porphyria
Tachycardia OMIM:176200
Rhiny
Anteverted nares, Short nose OMIM:180360
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... OMIM:115000
Smith-Magenis syndrome
Motor stereotypy DECIPHER:8
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing, Macrotia ORPHA:397933
17Q21.31 Microduplication Syndrome
Anteverted nares, Abnormality of the outer ear, Short nose ORPHA:217340
Paragangliomas 3
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... OMIM:605373
Developmental And Epileptic Encephalopathy 73
Sensorineural hearing impairment, Hypertonia, Short nose, Narrow nasal bridge OMIM:618379
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Anteverted ears, Prominent nose, Macrotia OMIM:615541
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... ORPHA:263455
Paragangliomas 1
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... OMIM:168000
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Vertigo, Ataxia, Abnormal head movements ORPHA:71518
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism OMIM:603373
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Limb ataxia, Babinski sign, Jerky head movements, Spastic dysarthria, Spastic paraple... ORPHA:251282
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Failure to thrive, Left ventricular hypertrophy, Hypoglycemia, Decreased... OMIM:619048
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Broad nasal tip, Short nose, Speech apraxia OMIM:613670
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Car... OMIM:300952
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoparathyroidism, Failure to thrive, Hypocalcemia, Hypoplastic l... ORPHA:3426
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Pheochromocytoma, Episodic hyp... OMIM:171420
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Pterygium Colli, Isolated
Short nose, Protruding ear OMIM:177990
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Hypertension, Tachycardia, Atrial septal defect OMIM:613870
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Premature ventricular contraction, Syncope OMIM:192445
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia OMIM:617830
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia OMIM:618709
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Ebstein anomaly of the tricu... OMIM:611878
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Left ... OMIM:613426
N-Acetylaspartate Deficiency
Motor stereotypy, Truncal ataxia OMIM:614063
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... ORPHA:34217
Romano-Ward Syndrome
Torsade de pointes, Hypokalemia, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, S... ORPHA:101016
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Chorea, Paroxysmal dyskinesia OMIM:619150
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Short nose, Depressed nasal ridge ORPHA:1355
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Short nose, Anteverted nares, Low-set ears, Posteriorly rotated ears ORPHA:1832
Snijders Blok-Campeau Syndrome
Motor stereotypy, Speech apraxia, Prominent nose, Low-set ears, Wide nasal bridge OMIM:618205
Loeffler Endocarditis
Right bundle branch block, Weight loss, Pericarditis, Myocardial fibrosis, Abnormal morphology of... ORPHA:75566
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Broad nasal tip, Spasticity ORPHA:500545
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Abnormal ... ORPHA:280356
Burn-Mckeown Syndrome
Short nose, Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia ORPHA:1200
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge, Progressive spastic quadriplegia OMIM:200130
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Mody
Glucose intolerance, Hypoinsulinemia, Abnormal circulating insulin concentration, Abnormal C-pept... ORPHA:552
Episodic Ataxia Type 4
Ataxia, Frequent falls, Vertigo, Abnormal head movements, Incoordination ORPHA:79136
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Hypotension, Postural hypotension with compensatory tachyc... ORPHA:369873
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Spastic tetraplegia OMIM:615282
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Paroxysmal atrial tachycardia, Ventricular septal defect, Diabetes mellitus... ORPHA:49827
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hypotension, Hyperphosphatemia, ... OMIM:145600
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Facial Paresis, Hereditary Congenital, 3
Sensorineural hearing impairment, Depressed nasal bridge, Short nose, Anteverted nares, Low-set e... OMIM:614744
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Pendred Syndrome
Sensorineural hearing impairment, Ataxia, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of th... ORPHA:705
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Anteverted nares, Depressed nasal bridge, Short nose, Low-set ears OMIM:613443
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Large fleshy ears, Overfolded helix, Myoclonus, Tremor, Gai... OMIM:619092
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Snakebite Envenomation
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... ORPHA:449285
Naxos Disease
Abnormal heart morphology, Prolonged QRS complex, Premature ventricular contraction, Right ventri... OMIM:601214
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Non-Distal Trisomy 10Q
Depressed nasal bridge, Short nose, Convex nasal ridge, Low-set, posteriorly rotated ears ORPHA:1695
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears OMIM:619717
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Cirrhotic Cardiomyopathy
Right atrial enlargement, Abnormal A-type atrial natriuretic peptide level, Third heart sound, Le... ORPHA:57777
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Perimembranous ve... OMIM:618782
Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Small for gestational age, Tachycardia, Thyroid hyperplasia, Goiter OMIM:609152
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Transient i... ORPHA:99103
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Increased circulating brain natriuretic pepti... OMIM:601494
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Bulbous nose, Ataxia, Limb ataxia, Poor coordination, Spasticity, Macrotia OMIM:617695
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Short nose, Tetraparesis ORPHA:85277
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity, Tachycardia, Hyperglycemia OMIM:619737
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level,... ORPHA:264675
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Cardiac Diverticulum
Angina pectoris, Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Encephalopathy Due To Sulfite Oxidase Deficiency
Ataxia, Hemiplegia/hemiparesis, Short nose, Spasticity, Spastic tetraparesis ORPHA:833
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Involuntary movements, Spasticity OMIM:617820
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Large earlobe, Bulbous nose, Prominent ear helix, Broad nasal tip, Myoclonus, A... ORPHA:411986
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Failure to thrive, Tachycardia, Jun... ORPHA:137675
Brunet-Wagner Neurodevelopmental Syndrome
Motor stereotypy, Wide nasal bridge OMIM:619690
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Hypertonia, Hypoplasia of the semicircular canal, Dilated vesti... OMIM:611584
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Prominent nasal tip, Cerebral palsy, Spasticity, Repetitive compuls... ORPHA:352490
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... OMIM:601820
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Orthostati... ORPHA:66628
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy,... OMIM:617222
Myotonic Dystrophy 2
Type II diabetes mellitus, Premature ventricular contraction, Palpitations, Elevated circulating ... OMIM:602668
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... OMIM:246700
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... OMIM:606762
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia ORPHA:104
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Intellectual Developmental Disorder With Autism And Macrocephaly
Clumsiness, Recurrent hand flapping, Wide nose, Posteriorly rotated ears, Wide nasal bridge OMIM:615032
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Hypertonia, Short nose, Protruding ear ORPHA:1495
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Chorea, Progressive extrapyramidal movement disorder, Athetosis, Abnormal head movements,... ORPHA:382
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Hypertonia, Short nose, Stereotypical hand wringing OMIM:619854
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Bulbous nose, Recurrent hand flapping, Depressed nasal bridge, Macrotia, Anteverted nares OMIM:617268
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Short nose OMIM:122880
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Orthostati... ORPHA:179494
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... ORPHA:75565
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Effort-induced polymorphi... OMIM:600996
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... ORPHA:159
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Acrocephalopolydactyly
Short nose, Depressed nasal ridge, Microtia ORPHA:221054
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Tachycardia, Congestive heart failure ORPHA:90037
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, D... ORPHA:1529
17P13.3 Microduplication Syndrome
Low-set ears, Wide nose, Short nose ORPHA:217385
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Abnormal pyramidal sign, Short nose, Spastic tetraplegia, Macrotia, Low-set ears OMIM:615419
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Maternal di... OMIM:604367
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Intellectual Developmental Disorder, X-Linked 30
Clumsiness, Short nose, Macrotia, Anteverted nares, Prominent nasal bridge OMIM:300558
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Short nose, Low-set, posteriorly rotated ears ORPHA:261120
Leukodystrophy, Hypomyelinating, 10
Bulbous nose, Babinski sign, Hyperkinetic movements, Hearing impairment, Short nose, Spasticity, ... OMIM:616420
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Tachycardia, Dilated cardiomyopathy, Syncope OMIM:615821
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short nose, Hearing impairment, Short nasal septum, Anosmia OMIM:302950
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hypertension, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Hyperprolinemia, Type I
Motor stereotypy, Ataxia OMIM:239500
16P12.1P12.3 Triplication Syndrome
Failure to thrive, Atrial septal defect, Decreased response to growth hormone stimulation test, T... ORPHA:485405
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Tremor, Motor stereotypy OMIM:619470
Chromosome 16P13.3 Duplication Syndrome
Low-set ears, Bulbous nose, Short nose, Protruding ear OMIM:613458
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Abnormality of the ear, Broad nasal tip, Recurrent upper respiratory tract infections, Oromotor a... ORPHA:391372
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Speech apraxia OMIM:245570
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Peho-Like Syndrome
Short nose, Myoclonus OMIM:617507
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Tachycardia, Elevated circulating creatine kinase concentrat... OMIM:613327
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy ORPHA:335
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Acquired Methemoglobinemia
Palpitations, Tachycardia, Arrhythmia, Syncope ORPHA:464453
Mental Retardation, X-Linked 91
Short nose OMIM:300577
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Tremor, Low-set ears, Spasticity OMIM:618718
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hypertonia, Depressed nasal bridge, Broad columella, Short nose, Tics OMIM:617865
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... OMIM:617885
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Short nose, Low-set ears, Conductive hearing impairment OMIM:616910
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Tachycardia, Elevated circulating creatine kinase concentration, Cardiomega... OMIM:614921
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Short nose, Low-set ears, Abnormal pinna morphology OMIM:613544
Miller-Dieker Syndrome
Anteverted nares, Short nose, Ataxia ORPHA:531
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Abnormal pinna morphology, Microtia, Short nose, Low-set ears, Wide nasal bridge OMIM:613603
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentrati... OMIM:616834
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose OMIM:125700
Timothy Syndrome
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Hypoglycemia, Paten... OMIM:601005
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Macrotia, Hearing impairment, Prominent nasal bridge OMIM:619877
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fract... ORPHA:542323
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity, Myocardial infarction, Hypercholesterolemia, Hypertension, Co... OMIM:615812
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Low-set, posteriorly rotated ears ORPHA:2370
5Q14.3 Microdeletion Syndrome
Anteverted nares, Short nose, Motor stereotypy ORPHA:228384
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Highly elevated creatine kinase, Tachycardia, Elevated circulating creatine kinase concentration,... ORPHA:368
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration OMIM:601369
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Bulbous nose, Ataxia, Abnormal pinna morphology, Stereotypical hand wringing, M... OMIM:614104
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Bulbous nose, Babinski sign, Spastic dysarthria, Progressive spastic paraplegia... ORPHA:280763
Xq28 (MECP2) duplication
Motor stereotypy, Depressed nasal bridge, Progressive spasticity, Gait ataxia, Macrotia DECIPHER:45
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Jerky head movements, Simultan... ORPHA:157941
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea OMIM:618760
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Pheochromocytoma, Episodic hyp... OMIM:171300
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... OMIM:224700
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Left bundle branch block, Congestive heart failure, Myofiber disarray, ... OMIM:115197
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Pierpont Syndrome
Large fleshy ears, Hypertonia, Broad nasal tip, Short nose, Wide nose, Hearing impairment, Poster... OMIM:602342
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Microtia, Overfolded... ORPHA:79113
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy, Abnormal antihelix morphology, Bulbous nose, Protruding ear, Depressed nasal br... ORPHA:261144
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Anteverted nares, Recurrent hand flapping, Spasticity OMIM:618859
Tetanus
Hypertension, Tachycardia, Elevated circulating creatine kinase concentration, Bradycardia ORPHA:3299
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Short nose, Stereotypical hand wringing, Myoclonus ORPHA:289266
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Abnormal heart morphology ORPHA:79264
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Failure to thrive OMIM:618378
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Torsade de pointes, Hyperammonemia, Premature t... OMIM:616878
Clark-Baraitser Syndrome
Large earlobe, Low hanging columella, Depressed nasal bridge, Short nose, Anteverted nares, Low-s... OMIM:617752
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Ataxia, Dysmetria, Short nose, Spasticity, Oculomotor apraxia, Anteverted ears OMIM:618087
Hydroxykynureninuria
Tachycardia, Hypotension, Abnormal circulating tryptophan concentration ORPHA:79155
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Cebalid Syndrome
Abnormal pinna morphology, Depressed nasal ridge, Depressed nasal bridge, Hearing impairment, Sho... OMIM:618774
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypertonia, Microtia, Depressed nasal bridge, Short nose, Spastic tetraparesis, Anteverted nares,... ORPHA:171839
Autism, Susceptibility To, X-Linked 2
Motor stereotypy OMIM:300495
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Motor stereotypy, Sensorineural hearing impairment, Protruding ear, Tremor, Anteverted nares, Low... OMIM:618342
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Chondrodysplasia With Joint Dislocations, Gpapp Type
Hearing impairment, Short nose, Wide nasal bridge OMIM:614078
Nabais Sa-De Vries Syndrome, Type 1
Hypertonia, Bulbous nose, Depressed nasal bridge, Short nose, Hearing impairment, Prominent nasal... OMIM:618828
Atrial Standstill 2
Atrial arrhythmia, Hyperpepsinogenemia I, Atrial standstill, Palpitations, Absent P wave, Atrial ... OMIM:615745
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Wide nose, Short nose, Anteverted nares, Low-set ea... OMIM:300209
Edinburgh Malformation Syndrome
Hypertonia, Short nose, Choanal atresia, Anteverted nares, Low-set ears ORPHA:1895
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation ORPHA:90647
Developmental And Epileptic Encephalopathy 87
Hypertonia, Bulbous nose, Prominent nose, Recurrent hand flapping OMIM:618916
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tremor, Short nose, Macrotia, Limb tremor, Wide nasal bridge OMIM:218000
Absence Of The Pulmonary Artery
Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect, Systolic hea... ORPHA:980
Chromosome 14Q11-Q22 Deletion Syndrome
Hypertonia, Abnormal pinna morphology, Depressed nasal bridge, Short nose, Wide nose, Spasticity,... OMIM:613457
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Gms Syndrome
Depressed nasal bridge, Short nose, Low-set ears, Microtia OMIM:138770
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Relapsing Fever
Elevated circulating C-reactive protein concentration, Tachycardia, Hypotension, Increased total ... ORPHA:91547
Perlman Syndrome
Short nose, Anteverted nares, Low-set ears, Posteriorly rotated ears, Thickened helices, Wide nas... ORPHA:2849
Spinocerebellar Ataxia With Dysmorphism
Anteverted nares, Short nose, Babinski sign, Ataxia OMIM:271270
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Increased C-peptide level, Hy... ORPHA:528
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Babinski sign, Spasticity OMIM:612069
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose, Spasticity ORPHA:2429
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Al-Raqad Syndrome
Low-set ears, Short nose OMIM:616459
Huntington Disease-Like 3
Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormal pyramidal sign, Chorea, Spa... ORPHA:157946
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity OMIM:618917
Aapoaiv Amyloidosis
Sinus bradycardia, Left bundle branch block, Hyperlipidemia, Cardiac amyloidosis, Left ventricula... ORPHA:439232
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Low-set ears, Recurrent hand flapping OMIM:620021
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Broad nasal tip, Short nose, Hearing impairment, Wide nasal bridge OMIM:614207
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Elevated circulating C-reactive protein concentrati... ORPHA:97214
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy OMIM:613886
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypertonia, Overfolded helix, Short nose, Posteriorly rotated ears, Macrotia, Prominent nasal bri... ORPHA:2083
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Bulbous nose, Hearing impairment, Short nose, Low-set ears, Posteriorly rotated ears OMIM:613604
Mercury Poisoning
Hypertension, Tachycardia, Hypotension, Hypokalemia ORPHA:330021
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increa... OMIM:615954
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... ORPHA:423
Coffin-Siris Syndrome 6
Motor stereotypy, Conductive hearing impairment, Broad nasal tip, Depressed nasal bridge, Low-set... OMIM:617808
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Left ventricular hypertrophy, Bradycardia OMIM:614654
Coffin-Siris Syndrome 7
Motor stereotypy, Convex nasal ridge, Depressed nasal bridge, Macrotia, Hearing impairment, Wide ... OMIM:618027
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction OMIM:612956
Potocki-Lupski Syndrome
Failure to thrive, Atrial septal defect, Small for gestational age, Hypothyroidism, Hypocholester... OMIM:610883
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Distal Monosomy 10Q
Ataxia, Protruding ear, Cochlear malformation, Poor fine motor coordination, Congenital sensorine... ORPHA:96148
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Tachycardia ORPHA:90036
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Motor stereotypy, Depressed nasal bridge, Bilateral conductive hearing impairment, Short nose, Lo... OMIM:617802
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating cr... OMIM:300257
Chung-Jansen Syndrome
Anteverted nares, Short nose, Macrotia OMIM:617991
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Motor stereotypy, Low hanging columella, Anteverted nares, Prominent nasal bridge, Underdeveloped... OMIM:618825
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Meckel Syndrome, Type 8
Low-set ears, Short nose, Depressed nasal ridge OMIM:613885
Robinow Syndrome, Autosomal Recessive 2
Broad nasal tip, Short nose, Anteverted nares, Low-set ears, Posteriorly rotated ears, Wide nasal... OMIM:618529
Christianson Syndrome
Motor stereotypy, Truncal ataxia, Abnormality of the nose, Gait ataxia, Macrotia ORPHA:85278
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Scorpion Envenomation
Bundle branch block, Hypokalemia, Premature ventricular contraction, ST segment depression, Incre... ORPHA:466677
Hereditary Coproporphyria
Abnormal circulating porphyrin concentration, Tachycardia, Hyponatremia ORPHA:79273
Apert Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Convex nasal ridge, Depressed na... ORPHA:87
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Pontocerebellar Hypoplasia, Type 10
Hypertonia, Short nose, Spasticity, Underdeveloped nasal alae, Wide nasal bridge OMIM:615803
Fragile X Syndrome
Recurrent hand flapping, Abnormal head movements, Macrotia OMIM:300624
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Tremor, Macrotia, Anteverted ears ORPHA:544254
Stiff-Person Syndrome
Hypertension, Tachycardia, Diabetes mellitus OMIM:184850
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia, Hyperuricemia, Neonatal h... ORPHA:348
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Severe X-Linked Intellectual Disability, Gustavson Type
Hypertonia, Abnormal pinna morphology, Myoclonus, Recurrent upper respiratory tract infections, S... ORPHA:3078
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Spasticity, Chorea ORPHA:88616
Potocki-Shaffer Syndrome
Short nose, Underdeveloped nasal alae, Wide nasal bridge OMIM:601224
Foxg1 Syndrome
Motor stereotypy, Myoclonus, Hyperkinetic movements, Stereotypical hand wringing, Choreoathetosis... ORPHA:561854
Paragangliomas 4
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Paraganglioma of head and ne... OMIM:115310
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Squalene Synthase Deficiency
Bicuspid aortic valve, Increased circulating farnesol concentration, Hypocholesterolemia, Decreas... OMIM:618156
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Myoclonus, Hyperkinetic movements, Chorea, Choreoathetosis OMIM:619317
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Myoclonus, Babinski sign, Rigidity OMIM:600795
Vitamin K Antagonist Embryofetopathy
Microtia, Depressed nasal bridge, Short nose, Choanal atresia, Anteverted nares, Hearing impairment ORPHA:1914
Pontocerebellar Hypoplasia, Type 2E
Large earlobe, Hypertonia, Opisthotonus, Myoclonus, Wide nose, Short nose, Spasticity, Spastic te... OMIM:615851
Microcephaly-Capillary Malformation Syndrome
Myoclonus, Hearing impairment, Wide nose, Short nose, Spastic tetraparesis, Low-set ears OMIM:614261
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Ataxia, Depressed nasal bridge, Rigidity, Chorea, Progressive spasticity, Repet... OMIM:300260
Dermotrichic Syndrome
Depressed nasal bridge, Short nose, Macrotia ORPHA:99688
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Arrhythmia, Bradycardia OMIM:614302
16P11.2P12.2 Microdeletion Syndrome
Bulbous nose, Abnormal pinna morphology, Long nose, Chronic otitis media, Hearing impairment, Sho... ORPHA:261211
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertriglyceridemia, H... OMIM:615238
Cholera
Hypokalemia, Hypocalcemia, Hypovolemic shock, Tachycardia, Hypotension, Hypoglycemia, Abnormal bl... ORPHA:173
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Biventricular hypertrophy, Bradycardia, Neonatal hypoglycemia... OMIM:261740
Helsmoortel-Van Der Aa Syndrome
Motor stereotypy, Broad nasal tip, Low-set, posteriorly rotated ears, Short nose, Anteverted nare... OMIM:615873
Intellectual Developmental Disorder, X-Linked 98
Motor stereotypy, Ataxia, Recurrent hand flapping, Stereotypical body rocking, Long nose, Depress... OMIM:300912
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Maxillonasal Dysplasia
Depressed nasal ridge, Depressed nasal bridge, Abnormality of the nares, Short nose, Short columella ORPHA:1248
Carney Triad
Adrenocortical adenoma, Tachycardia, Arrhythmia, Paraganglioma, Pheochromocytoma, Adrenal overact... ORPHA:139411
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Bulbous nose, Ataxia, Poor coordination, Depressed nasal bridge, Short nose, Spasticity, Low-set ... OMIM:618430
Intellectual Developmental Disorder, Autosomal Dominant 51
Recurrent hand flapping, Low hanging columella, Tics, Recurrent otitis media, Wide nasal bridge, ... OMIM:617788
Fetal Trimethadione Syndrome
Abnormal helix morphology, Overfolded helix, Depressed nasal bridge, Short nose, Low-set ears ORPHA:1913
4Q21 Microdeletion Syndrome
Motor stereotypy, Depressed nasal bridge, Hearing impairment, Tremor, Low-set ears ORPHA:238750
Atypical Rett Syndrome
Hand apraxia, Pill-rolling tremor, Stereotypical hand wringing, Tongue thrusting, Limb myoclonus,... ORPHA:3095
Familial Hyperaldosteronism Type Iii
Hypokalemia, Left ventricular hypertrophy, Intracranial hemorrhage, Adrenal hyperplasia, Prolonge... ORPHA:251274
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Hyperkalemia OMIM:141000
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Hypoinsulinemia, Hypoglycemia, Reduced C-peptide level, Recurrent hypog... ORPHA:2126
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Tachycardia OMIM:229700
Intellectual Developmental Disorder, Autosomal Recessive 71
Motor stereotypy, Macrotia OMIM:618504
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Posteriorly rotated ears OMIM:300887
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Developmental And Epileptic Encephalopathy 75
Babinski sign, Short nose, Spasticity, Anteverted nares, Wide nasal bridge OMIM:618437
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Hypertonia, Protruding ear, Low-set, posteriorly rotated ears, Hearing abnormality, Short nose, A... ORPHA:2031
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Short nose, Macrotia, Anteverted nares, Hearing impairment ORPHA:2701
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Short nose ORPHA:1389
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Sensorineural hearing impairment, Low hanging columella, Recurrent otitis media... OMIM:617751
Glutamine Deficiency, Congenital
Depressed nasal bridge, Short nose, Anteverted nares, Low-set ears, Wide nasal bridge OMIM:610015
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level, Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyp... OMIM:103900
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Elevated ... ORPHA:94093
Jaberi-Elahi Syndrome
Protruding ear, Dysmetria, Depressed nasal bridge, Appendicular spasticity, Tremor, Short nose, C... OMIM:617988
Tenorio Syndrome
Hypoglycemia, Raynaud phenomenon, Hypoinsulinemia, Syncope OMIM:616260
Ohdo Syndrome
Microtia, Stenosis of the external auditory canal, Depressed nasal bridge, Short nose, Anteverted... OMIM:249620
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Bacterial endocarditis, Heart block, Premature ventricular contraction ORPHA:1964
Acromicric Dysplasia
Anteverted nares, Bulbous nose, Short nose ORPHA:969
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Absent brainstem auditory responses, Ataxia, Hypoplasia of the semicircular canal, S... OMIM:609136
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure ORPHA:90033
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Eye poking OMIM:204000
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bulbous nose, Ataxia, Spastic paraparesis, Depressed nasal bridge, Hearing impairment, Short nose... ORPHA:369891
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, I... ORPHA:79237
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia, Hypertension ORPHA:363400
Teebi Hypertelorism Syndrome 2
Broad nasal tip, Depressed nasal bridge, Short nose, Hearing impairment OMIM:619736
Distal Trisomy 18Q
Low-set, posteriorly rotated ears, Short nose, Choanal atresia, Anteverted nares, Prominent nasal... ORPHA:1716
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Short nose OMIM:300143
Pyruvate Dehydrogenase E2 Deficiency
Choreoathetosis, Oculomotor apraxia, Ataxia, Jerky head movements OMIM:245348
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Hyperkinetic movements, Tremor, Macrotia, Upper limb spasticity ORPHA:457240
Tularemia
Tachycardia ORPHA:3392
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy, Sensorineural hearing impairment, Congenital sensorineural hearing impairment, ... ORPHA:500159
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Short nose, Convex nasal ridge, Microtia ORPHA:2145
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... ORPHA:35878
Intellectual Developmental Disorder, Autosomal Dominant 34
Anteverted nares, Hearing impairment, Motor stereotypy OMIM:616351
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Patent foramen ovale, Prolonged PR in... ORPHA:542306
Adenylosuccinase Deficiency
Opisthotonus, Myoclonus, Short nose, Gait ataxia, Spasticity, Anteverted nares, Low-set ears OMIM:103050
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Motor stereotypy, Bulbous nose, Overfolded helix, Depressed nasal bridge, Tremor, Short nose, Mac... OMIM:617061
Gitelman Syndrome
Failure to thrive, Hypomagnesemia, Hypokalemia, Palpitations, Hypotension, Increased circulating ... OMIM:263800
Alazami Syndrome
Motor stereotypy, Low-set ears, Wide nose, Stereotypical hand wringing ORPHA:319671
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Failure to thrive, Right ventricular hypertrophy, Left ventricula... ORPHA:444013
Sepsis In Premature Infants
Decreased body weight, Elevated circulating C-reactive protein concentration, Small for gestation... ORPHA:90051
Chromosome 5P13 Duplication Syndrome
Motor stereotypy, Low-set ears, Bulbous nose, Wide nasal bridge OMIM:613174
Pick Disease Of Brain
Motor stereotypy OMIM:172700
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased body weight, Hematemesis, Palpitations, Tachycardia, Intracranial hemorrhage, H... ORPHA:340
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Fasciculations, Upper motor neuron dysfunction, Abnormality of extrapyramidal m... ORPHA:275864
Codas Syndrome
Sensorineural hearing impairment, Overfolded helix, Depressed nasal bridge, Crumpled ear, Short n... ORPHA:1458
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Depressed nasal bridge, Short nose, Low-set ears OMIM:614732
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Retinal hemorrhage, Ventricular septal defect, Hypertension, Bradycardia OMIM:614653
Intellectual Developmental Disorder, Autosomal Recessive 41
Motor stereotypy, Broad nasal tip OMIM:615637
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Prominent nose, Macrotia ORPHA:391307
Ethylene Glycol Poisoning
Hypocalcemia, Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, Prolonged QT in... ORPHA:31826
Optic Atrophy-Intellectual Disability Syndrome
Protruding ear, Abnormal helix morphology, Short nasal bridge, Spasticity, Repetitive compulsive ... ORPHA:401777
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal cardio... ORPHA:79086
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Abnormal hea... ORPHA:247815
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Abnormal pyramidal sign, Short nose, Spastic tetraplegia, Hearing impairment OMIM:256600
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating aldosterone level, Hypokalemia, Decreased circulating re... ORPHA:320
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... ORPHA:98855
Porphyria Variegata
Inappropriate antidiuretic hormone secretion, Tachycardia, Abnormal circulating porphyrin concent... ORPHA:79473
Weiss-Kruszka Syndrome
Horizontal crus of helix, Protruding ear, Microtia, Overfolded helix, Cupped ear, Hearing impairm... OMIM:618619
Smith-Magenis Syndrome
Motor stereotypy, Morphological abnormality of the middle ear, Abnormality of the outer ear, Hear... OMIM:182290
Intellectual Developmental Disorder, Autosomal Recessive 13
Recurrent hand flapping, Wide nasal bridge OMIM:613192
Branchiootorenal Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana... OMIM:113650
Phosphoribosylaminoimidazole Carboxylase Deficiency
Depressed nasal bridge, Bilateral choanal atresia, Short nose, Choanal atresia, Choanal stenosis,... OMIM:619859
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Tachycardia, Elevated circulating creatine kinase concentration, Hypotension, Myoca... ORPHA:36234
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Low-set ears, Short nose, Posteriorly rotated ears, Thick nasal alae ORPHA:163961
Gomez-Lopez-Hernandez Syndrome
Hypertonia, Ataxia, Short nose, Anteverted nares, Low-set ears, Posteriorly rotated ears OMIM:601853
Tetrasomy 18P
Short nose, Low-set, posteriorly rotated ears ORPHA:3307
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... OMIM:262190
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Bundle branch block, Adrena... ORPHA:99827
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Microtia ORPHA:2547
Alstrom Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... OMIM:203800
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Spastic ataxia OMIM:618906
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... ORPHA:98853
Shukla-Vernon Syndrome
Motor stereotypy, Wide nasal base OMIM:301029
Radio-Tartaglia Syndrome
Motor stereotypy, Large earlobe, Bulbous nose, Prominent nasal tip, Ataxia, Conductive hearing im... OMIM:619312
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Microtia, Depressed nasal bridge, Short nose, Wide nose, Anteverted nares, Low-set ears OMIM:613320
Macrocephaly-Developmental Delay Syndrome
Motor stereotypy, Abnormal speech discrimination, Wide nasal bridge ORPHA:397612
Camptodactyly Syndrome, Guadalajara Type 1
Microtia, Attached earlobe, Depressed nasal bridge, Low-set, posteriorly rotated ears, Short nose... ORPHA:1327
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... ORPHA:330001
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Orthostatic hypotension, Tachycardia, Elevated circulating creatin... OMIM:223900
Necrotizing Enterocolitis
Small for gestational age, Hypotension, Shock, Bradycardia, Hyponatremia, Abnormal glucose homeos... ORPHA:391673
Rett Syndrome, Congenital Variant
Motor stereotypy, Bulbous nose, Protruding ear, Depressed nasal bridge, Tongue thrusting, Chorea,... OMIM:613454
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Long nose, Gait ataxia, Prominent nose, Spasticity, Macrotia OMIM:300486
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism, Hypoalbuminemia, Portal hyperte... ORPHA:79319
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Low hanging columella, Broad col