Not currently registered for phenotyping at IMPC

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

Gene Summary

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

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
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Palpitations, Fasting hypoglycemia, Maternal diabetes, Hyperinsulinemic hy... ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Palpitations, Focal pancreatic islet hyperplasia, Fasting hypoglycemia, Hy... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Palpitations, Fasting hypoglycemia, Maternal diabetes, Hyperinsulinemic hy... ORPHA:276580
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Palpitations, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hype... ORPHA:276556
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertension, Sudden cardi... OMIM:610947
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Abnormal heart morphology, Hypothyroidis... ORPHA:99886
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Maternal diabetes, Paroxysmal supraventricular tachycardia... ORPHA:45452
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Myocardial infarction, Hypertension OMIM:608320
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Fraxe Intellectual Disability
Clumsiness, Prominent ear helix, Recurrent hand flapping, Prominent nasal bridge, Stereotypical b... ORPHA:100973
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Atrial fibrillation, Sick sinus syndrome, Decreased body weight, Pulmonic stenosi... OMIM:616201
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Mental Retardation, Autosomal Recessive 39
Anteverted ears, Macrotia, Stereotypy, Prominent nose OMIM:615541
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertension, Hypertriglyceridemia, Type II diabetes mellitus, Childhood-onset ... ORPHA:71529
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Anomalous pulmonary venous return, Palpitations, Cardiac conductio... ORPHA:99105
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Short nose ORPHA:2015
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Primary Dystonia, Dyt13 Type
Postural tremor, Action tremor, Torticollis, Jerky head movements, Stereotypy, Involuntary movements ORPHA:98807
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
Maxillonasal Dysplasia, Binder Type
Short columella, Short nose, Large earlobe, Depressed nasal bridge OMIM:155050
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hypertension, Hypertriglyceridemia, Myocardial infarcti... OMIM:615703
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Goiter, Weight loss, Hypokalemia, Tachycardia, Hyperthyroidism OMIM:613239
Baker-Gordon Syndrome
Short nose, Hyperkinetic movements, Ataxia, Prominent nasal tip, Stereotypy, Involuntary movement... OMIM:618218
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Goiter, Weight loss, Hypokalemia, Tachycardia, Hyperthyroidism OMIM:188580
Intellectual Developmental Disorder With Autism And Speech Delay
Stereotypy OMIM:606053
Autism
Stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Hydroxykynureninuria
Hypotension, Tachycardia OMIM:236800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, Low-set ears, Anteverted nares, Chronic bronchitis, Depressed nasal bridge OMIM:614069
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Atrial septal defect, Dilated cardiomyopathy, Patent foramen ovale... ORPHA:26793
Hyperthyroidism, Familial Gestational
Increased circulating T4 level, Tachycardia, Decreased thyroid-stimulating hormone level, Hyperth... OMIM:603373
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Macrotia, Posteriorly rotated ears, Low-set ears, Stereotypy, Prominent nasal bridge OMIM:609425
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Variegate Porphyria
Tachycardia OMIM:176200
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Broad nasal tip, Stereotypy, Spasticity OMIM:617393
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Pericardial effusion, Atrial flutter, Atr... ORPHA:300751
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... ORPHA:90064
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Ring Chromosome 8 Syndrome
Round ear, Anteverted nares, Short nose ORPHA:1450
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Decreased plasma free carnitine, Hypoglycemia, Congestive heart failure,... OMIM:619048
Familial Dilated Cardiomyopathy
Abnormal circulating creatine kinase concentration, Palpitations, Ventricular arrhythmia, Reduced... ORPHA:217607
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements, Macrotia ORPHA:397933
Fatty Acyl-Coa Reductase 1 Deficiency
Macrotia, Spastic tetraparesis, Short nose, Depressed nasal bridge ORPHA:438178
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Paragangliomas 3
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Adren... OMIM:605373
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular hypertrophy, Arrhythmia, Cardiomyocyte hypertrophy, T-wave inversion, V... ORPHA:263297
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose OMIM:218010
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Paragangliomas 1
Palpitations, Extraadrenal pheochromocytoma, Vagal paraganglioma, Hypertension associated with ph... OMIM:168000
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Neonatal hypoglycemia, Hypotension, Ventricular extrasystoles, Hypoglyce... OMIM:212138
Rhiny
Anteverted nares, Short nose OMIM:180360
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa... ORPHA:251282
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Ventricular tachycardia, Cardiomegaly, Elevated... OMIM:600649
17Q21.31 Microduplication Syndrome
Anteverted nares, Short nose, Abnormality of the outer ear ORPHA:217340
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Vertigo, Ataxia ORPHA:71518
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Hyp... ORPHA:263455
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Developmental And Epileptic Encephalopathy 73
Hypertonia, Sensorineural hearing impairment, Short nose, Narrow nasal bridge OMIM:618379
Pterygium Colli, Isolated
Protruding ear, Short nose OMIM:177990
Double Outlet Right Ventricle
Hypocalcemia, Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Pu... ORPHA:3426
Smith-Magenis syndrome
Stereotypy DECIPHER:8
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Combined Oxidative Phosphorylation Deficiency 25
Short nose, Wide nasal bridge, Low-set ears, Anteverted nares, Depressed nasal bridge OMIM:616430
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Pheochromocytoma, Episodic hypertension, Cerebral hemorrhage, Hy... OMIM:171420
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Ataxia, Enlarged vestibular aqueduct, Sensorineural hearing i... ORPHA:705
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Adenylosuccinate Lyase Deficiency
Low-set ears, Anteverted nares, Short nose ORPHA:46
Myotonic Dystrophy 2
Palpitations, Hypogonadism, Tachycardia, Insulin insensitivity, Elevated circulating creatine kin... OMIM:602668
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Developmental And Epileptic Encephalopathy 58
Spastic diplegia, Stereotypy OMIM:617830
Intellectual Developmental Disorder, X-Linked 98
Short nose, Underdeveloped nasal alae, Macrotia, Ataxia, Stereotypy, Prominent nasal bridge, Ante... OMIM:300912
N-Acetylaspartate Deficiency
Truncal ataxia, Stereotypy OMIM:614063
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Tachycardia, Hypertension, Ventricular septal defect OMIM:613870
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Ataxia OMIM:618709
Mental Retardation With Language Impairment And With Or Without Autistic Features
Short nose, Broad nasal tip, Stereotypy, Speech apraxia OMIM:613670
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... OMIM:618782
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Left atrial enl... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Absent Eyebrows And Eyelashes With Mental Retardation
Convex nasal ridge, Progressive spastic quadriplegia, Short nose OMIM:200130
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Broad nasal tip, Spasticity ORPHA:500545
Lethal Osteosclerotic Bone Dysplasia
Short nose, Posteriorly rotated ears, Low-set ears, Depressed nasal ridge, Anteverted nares ORPHA:1832
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Short nose, Depressed nasal ridge ORPHA:1355
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Overfolded helix, Hypertonia, Ataxia, Low-set ears, Myoclonus, Stereotypy, L... OMIM:619092
Mental Retardation, Autosomal Recessive 41
Stereotypy, Broad nasal tip OMIM:615637
Burn-Mckeown Syndrome
Bilateral choanal atresia, Prominent nasal bridge, Short nose, Wide nasal bridge ORPHA:1200
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hypertension, Hypertriglyceridemia, Abnormal circulating hormone concentration,... ORPHA:280356
Episodic Ataxia Type 4
Vertigo, Incoordination, Ataxia, Abnormal head movements, Frequent falls ORPHA:79136
Hyperthyroidism, Nonautoimmune
Goiter, Tachycardia, Small for gestational age, Thyroid hyperplasia, Hyperthyroidism OMIM:609152
Linear Skin Defects With Multiple Congenital Anomalies 3
Ventricular tachycardia, Ventricular fibrillation, Cardiac arrest, Failure to thrive, Dilated car... OMIM:300952
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Ventricular extrasystoles, Tachycardia, Syncope OMIM:192445
Jaberi-Elahi Syndrome
Tremor, Gait ataxia, Short nose, Low-set ears, Protruding ear, Depressed nasal bridge, Dysmetria,... OMIM:617988
Pontocerebellar Hypoplasia, Type 11
Bulbous nose, Macrotia, Limb ataxia, Poor coordination, Ataxia, Stereotypy, Recurrent respiratory... OMIM:617695
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Hyponatremia, Epistaxis, Hypopituitarism... ORPHA:449285
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block ORPHA:1479
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Hypotension, Postural hypotension with compensatory tachyc... ORPHA:369873
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Snijders Blok-Campeau Syndrome
Speech apraxia, Wide nasal bridge, Low-set ears, Stereotypy, Prominent nose OMIM:618205
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Tachycardia OMIM:221400
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... ORPHA:49827
Non-Distal Trisomy 10Q
Low-set, posteriorly rotated ears, Convex nasal ridge, Short nose, Depressed nasal bridge ORPHA:1695
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Stereotypy OMIM:619150
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyper... OMIM:145600
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Hypertonia, Anosmia, Morphological abnormality of the vesti... OMIM:611584
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hypoglycemia, Sudden cardiac death, Delayed puberty, Tachycardia, Elevate... OMIM:614921
Facial Paresis, Hereditary Congenital, 3
Short nose, Posteriorly rotated ears, Low-set ears, Sensorineural hearing impairment, Anteverted ... OMIM:614744
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Atrial fibrillation, Hypertriglyceridemia, Tachycardia, Pro... OMIM:613327
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Short nose OMIM:122880
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Hypertonia, Protruding ear, Short nose, Recurrent pneumonia ORPHA:1495
Mody
Abnormal oral glucose tolerance, Overweight, Hyperinsulinemic hypoglycemia, Glucose intolerance, ... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Histiocytoid Cardiomyopathy
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, H... ORPHA:137675
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Bulbous nose, Myoclonus, Stereotypy, Broad nasal tip, Prominent ear helix, Prominent nasal bridge... ORPHA:411986
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Wide nasal bridge, Prominent nasal tip, Low-set ears, Stereotypy, Repetitive compulsi... ORPHA:352490
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Hereditary Pulmonary Alveolar Proteinosis
Elevated carcinoembryonic antigen level, Tachycardia, Failure to thrive in infancy, Abnormal circ... ORPHA:264675
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Bulbous nose, Macrotia, Recurrent hand flapping, Anteverted nares, Depressed nasal bridge OMIM:617268
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Short nose, Macrotia OMIM:300558
Timothy Syndrome
Hypocalcemia, Ventricular septal defect, Hypothyroidism, Hypoglycemia, Cardiomegaly, Prolonged QT... OMIM:601005
Mental Retardation, Autosomal Dominant 20
Low-set ears, Anteverted nares, Short nose, Depressed nasal bridge OMIM:613443
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Hyperprolinemia, Type I
Stereotypy, Ataxia OMIM:239500
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Short nose, Stereotypy ORPHA:85277
Mental Retardation, Autosomal Dominant 48
Anteverted nares, Abnormality of the pinna, Low-set ears, Sensorineural hearing impairment, Stere... OMIM:617751
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Hypoalbumine... ORPHA:75565
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Prominent antihelix, Underdeveloped nasal alae, Stereotypy, Anteverted nares, Low hanging columel... OMIM:618825
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Fasting hypoglycemia, Arrhythmia, Hypotension, Hypoketotic hypoglycem... ORPHA:159
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Congestive heart failure, Tachycardia ORPHA:90037
Acrocephalopolydactyly
Short nose, Microtia, Depressed nasal ridge ORPHA:221054
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, H... ORPHA:66628
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Anosmia, Hearing impairment, Short nasal septum, Depressed nasal bridge OMIM:302950
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Short nose, Depressed nasal bridge ORPHA:261120
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Short nose, Macrotia, Abnormal pyramidal sign, Low-set ears, Spastic tetraplegia OMIM:615419
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Diabetes Insipidus, Neurohypophyseal
Short nose, Wide nose OMIM:125700
Xq28 (MECP2) duplication
Gait ataxia, Macrotia, Stereotypy, Progressive spasticity, Recurrent respiratory infections, Depr... DECIPHER:45
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Hypertension, Insulin resistance ORPHA:79084
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Hyperpepsinogenemia I, Atrial arrhythmia,... OMIM:615745
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Chromosome 16P13.3 Duplication Syndrome
Low-set ears, Short nose, Protruding ear, Bulbous nose OMIM:613458
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Abnormality of the pinna, Wide nasal bridge, Low-set ears, Microtia OMIM:613603
Mental Retardation, X-Linked 91
Short nose OMIM:300577
Miller-Dieker Syndrome
Anteverted nares, Short nose, Ataxia ORPHA:531
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Coronary artery stenosis, Hypertension, Myocardial infarction, Truncal obes... OMIM:615812
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, H... ORPHA:179494
Peho-Like Syndrome
Short nose, Myoclonus OMIM:617507
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Prominent nasolabial fold, Short nose, Hypoplastic helices, Recurrent upper res... ORPHA:391372
Leukodystrophy, Hypomyelinating, 10
Bulbous nose, Short nose, Hyperkinetic movements, Low-set ears, Hearing impairment, Babinski sign... OMIM:616420
Craniofacial-Deafness-Hand Syndrome
Short nose, Sensorineural hearing impairment, Depressed nasal ridge, Aplasia/Hypoplasia involving... ORPHA:1529
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Severe Intellectual Disability And Progressive Spastic Paraplegia
Bulbous nose, Babinski sign, Stereotypy, Progressive spastic paraplegia, Spastic dysarthria, Spas... ORPHA:280763
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Tachycardia, Syncope ORPHA:464453
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Tinnitus, Postlingual sensorineural hearing impairment OMIM:601369
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Short nose ORPHA:2370
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Anteverted nares, Recurrent hand flapping, Spasticity OMIM:618859
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Short nose, Absent tragus, Overfolded helix, Large earlobe, Conduct... ORPHA:79113
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Conductive hearing impairment, Short nose, Low-set ears, Depressed nasal bridge OMIM:616910
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Slurred speech, Poor fine motor coordination, Br... ORPHA:157941
Chromosome 6Q11-Q14 Deletion Syndrome
Low-set ears, Abnormality of the pinna, Short nose, Broad nasal tip OMIM:613544
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Elevated circulating creatine kinase concentration, Highly elevated creatine kinase, Tachycardia,... ORPHA:368
Congenital Fibrinogen Deficiency
Tachycardia, Right ventricular hypertrophy, Left ventricular hypertrophy, Internal hemorrhage ORPHA:335
17P13.3 Microduplication Syndrome
Low-set ears, Short nose, Wide nose ORPHA:217385
Mental Retardation, Autosomal Dominant 7
Thickened helices, Incoordination, Bulbous nose, Macrotia, Abnormality of the pinna, Ataxia, Ster... OMIM:614104
5Q14.3 Microdeletion Syndrome
Anteverted nares, Short nose, Stereotypy ORPHA:228384
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormality of the antihelix, Short nose, Bulbous nose, Protruding ear, Stereotypy, Depressed nas... ORPHA:261144
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Bradycardia, Left ventricular hypertrophy OMIM:614654
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Hypertonia, Spastic tetraparesis, Short columella, Laryngomalacia, Low-set ears, Ante... ORPHA:171839
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... OMIM:163800
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Respiratory tract infection, Tremor, Short nose, Macrotia, Wide nasal bridge, Limb tremor OMIM:218000
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Abnormal heart morphology ORPHA:79264
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Short nose, Tics, Hypertonia, Broad columella, Depressed nasal bridge OMIM:617865
Pierpont Syndrome
Short nose, Hypertonia, Posteriorly rotated ears, Hearing impairment, Broad nasal tip, Large fles... OMIM:602342
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Abnormal heart morphology, Abnormal tricuspid valve morphology, Tachycardia... ORPHA:485405
Tetanus
Elevated circulating creatine kinase concentration, Tachycardia, Hypertension, Bradycardia ORPHA:3299
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Macrotia OMIM:617061
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Elevated circulating creatinine concentration... ORPHA:542323
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Hydroxykynureninuria
Hypotension, Tachycardia, Abnormal circulating tryptophan concentration ORPHA:79155
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Stereotypy, Spasticity OMIM:612069
Pheochromocytoma
Positive regitine blocking test, Pheochromocytoma, Episodic hypertension, Cerebral hemorrhage, Hy... OMIM:171300
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea OMIM:618760
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Hyperuricemia, Hypertension, Insulin-resistant diabetes mell... OMIM:604367
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Pericardial effusion, Atrial flutter, Atrial fibrillation, Congestive hea... OMIM:115200
Cebalid Syndrome
Short nose, Abnormality of the pinna, Posteriorly rotated ears, Low-set ears, Hearing impairment,... OMIM:618774
Developmental And Epileptic Encephalopathy 87
Hypertonia, Bulbous nose, Recurrent hand flapping, Prominent nose OMIM:618916
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Premature pubarche, Hypothyroidism, Hypoglycemia, Ventricular tachycardia, Ve... OMIM:616878
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertension, Hypertriglyceridemia, Myocardial infarction, Type II diabe... OMIM:618620
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Delayed puberty, Failure to thrive, Hypocholesterolemia OMIM:616834
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, Tremor, Stereotypy, Spasticity OMIM:618718
Aapoaiv Amyloidosis
Cardiac amyloidosis, Cardiac conduction abnormality, Abnormal cardiac ventricular function, Eleva... ORPHA:439232
Chondrodysplasia With Joint Dislocations, Gpapp Type
Hearing impairment, Short nose, Wide nasal bridge OMIM:614078
Obesity, Hyperphagia, And Developmental Delay
Stereotypy OMIM:613886
Insulinoma
Palpitations, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm... ORPHA:97279
Nabais Sa-De Vries Syndrome, Type 1
Thickened helices, Short nose, Bulbous nose, Hypertonia, Hearing impairment, Prominent nasal brid... OMIM:618828
Huntington Disease-Like 3
Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progressive gait ... ORPHA:157946
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Recurrent upper respiratory tract infections, Pneumonia, Posteriorly rotated ears, Lo... OMIM:300209
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Failure to thrive OMIM:606528
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71526
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Stereotypical hand wringing, Short nose, Hypertonia, Myoclonus ORPHA:289266
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Eye poking OMIM:204000
Spinocerebellar Ataxia With Dysmorphism
Short nose, Anteverted nares, Babinski sign, Ataxia OMIM:271270
Perlman Syndrome
Thickened helices, Short nose, Wide nasal bridge, Posteriorly rotated ears, Low-set ears, Antever... ORPHA:2849
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Low-set ears, Short nose, Depressed nasal bridge OMIM:617802
Christianson Syndrome
Gait ataxia, Truncal ataxia, Macrotia, Abnormality of the nose, Stereotypy ORPHA:85278
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortene... OMIM:261740
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Short nose, Anteverted ears, Oculomotor apraxia, Ataxia, Dysmetria, Spasticity OMIM:618087
Gms Syndrome
Low-set ears, Short nose, Microtia, Depressed nasal bridge OMIM:138770
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Insulin resistance, Hypertriglyceridemia, Increased C-pep... ORPHA:528
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Gait ataxia, Chorea, Stereotypy, Stereotypical hand wringing, Spasticity OMIM:618917
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Short nose, Underdeveloped nasal alae, Overfolded helix, Macrotia, Hypertonia, Posteriorly rotate... ORPHA:2083
Mercury Poisoning
Hypotension, Hypokalemia, Tachycardia, Hypertension ORPHA:330021
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose, Spasticity ORPHA:2429
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Rigidity, Myoclonus, Stereotypy OMIM:600795
Hyperphosphatasia With Mental Retardation Syndrome 3
Hearing impairment, Short nose, Wide nasal bridge, Broad nasal tip OMIM:614207
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Bulbous nose, Posteriorly rotated ears, Low-set ears, Hearing impairment OMIM:613604
Edinburgh Malformation Syndrome
Short nose, Hypertonia, Choanal atresia, Low-set ears, Anteverted nares ORPHA:1895
Ocular Motor Apraxia
Jerky head movements, Oculomotor apraxia OMIM:257550
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Macrotia, Anteverted ears, Poor coordination, Ataxia, Recurrent hand flapping ORPHA:544254
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Pulmonary fibrosis, Upper limb spasticity, Macrotia, Hyperkinetic movements, Stereotypy ORPHA:457240
Coffin-Siris Syndrome 6
Tics, Low-set, posteriorly rotated ears, Conductive hearing impairment, Stereotypy, Broad nasal t... OMIM:617808
Chromosome 14Q11-Q22 Deletion Syndrome
Short nose, Hypertonia, Spasticity, Abnormality of the pinna, Low-set ears, Wide nose, Depressed ... OMIM:613457
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Distal Monosomy 10Q
Short nose, Cochlear malformation, Poor fine motor coordination, Oculomotor apraxia, Ataxia, Wide... ORPHA:96148
Stiff-Person Syndrome
Diabetes mellitus, Tachycardia, Hypertension OMIM:184850
Paragangliomas 4
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Adren... OMIM:115310
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Tachycardia ORPHA:90036
Relapsing Fever
Increased total bilirubin, Hypotension, Elevated circulating creatinine concentration, Epistaxis,... ORPHA:91547
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Spastic paraparesis, Anosmia, Ataxia, Absent brainstem audi... OMIM:609136
Hereditary Coproporphyria
Tachycardia, Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Recurrent respiratory infections, Short nose ORPHA:1389
Dermotrichic Syndrome
Macrotia, Short nose, Depressed nasal bridge ORPHA:99688
4Q21 Microdeletion Syndrome
Tremor, Low-set ears, Hearing impairment, Stereotypy, Depressed nasal bridge ORPHA:238750
Malignant Hyperthermia Of Anesthesia
Ventricular extrasystoles, Ventricular tachycardia, Elevated creatine kinase after exercise, Card... ORPHA:423
Severe X-Linked Intellectual Disability, Gustavson Type
Profound hearing impairment, Short nose, Recurrent upper respiratory tract infections, Macrotia, ... ORPHA:3078
Scorpion Envenomation
Cardiogenic shock, Increased circulating creatine kinase MB isoform, Bundle branch block, Cardiac... ORPHA:466677
Chung-Jansen Syndrome
Anteverted nares, Short nose, Macrotia OMIM:617991
Atypical Rett Syndrome
Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Hand apraxia, Tongue thrusting, Involuntary mo... ORPHA:3095
Eisenmenger Syndrome
Ventricular arrhythmia, Hyperuricemia, Tricuspid regurgitation, Elevated circulating C-reactive p... ORPHA:97214
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Failure to thrive in infancy, Hypocholest... OMIM:618156
Carney Triad
Arrhythmia, Adrenocortical adenoma, Gastrointestinal hemorrhage, Pheochromocytoma, Hypertension, ... ORPHA:139411
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Palpitations, Abnorma... ORPHA:1501
Developmental And Epileptic Encephalopathy 6B
Chorea, Hyperkinetic movements, Ataxia, Myoclonus, Stereotypy, Choreoathetosis OMIM:619317
Intellectual Developmental Disorder, Autosomal Recessive 71
Stereotypy, Macrotia OMIM:618504
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Spastic tetraparesis, Ataxia, Hemiplegia/hemiparesis, Spasticity ORPHA:833
Apert Syndrome
Convex nasal ridge, Conductive hearing impairment, Choanal atresia, Sensorineural hearing impairm... ORPHA:87
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Hyperuricemia, Hypoglycemia, Neonatal hyperbilirubin... ORPHA:348
Microcephaly-Capillary Malformation Syndrome
Short nose, Spastic tetraparesis, Low-set ears, Hearing impairment, Myoclonus, Wide nose OMIM:614261
Foxg1 Syndrome
Hyperkinetic movements, Myoclonus, Stereotypy, Stereotypical hand wringing, Choreoathetosis, Spas... ORPHA:561854
Helsmoortel-Van Der Aa Syndrome
Short nose, Low-set, posteriorly rotated ears, Wide nasal bridge, Stereotypy, Broad nasal tip, An... OMIM:615873
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Al-Raqad Syndrome
Low-set ears, Short nose OMIM:616459
16P11.2P12.2 Microdeletion Syndrome
Absent nasal bridge, Bulbous nose, Short nose, Tics, Chronic otitis media, Abnormality of the pin... ORPHA:261211
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Hypokalemia, S... ORPHA:101016
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Abnormality of the larynx, Abnormality of the outer ... OMIM:182290
Potocki-Shaffer Syndrome
Short nose, Underdeveloped nasal alae, Wide nasal bridge OMIM:601224
Pontocerebellar Hypoplasia, Type 2E
Short nose, Large earlobe, Hypertonia, Opisthotonus, Spastic tetraplegia, Myoclonus, Wide nose, S... OMIM:615851
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements, Choreoathetosis, Oculomotor apraxia, Ataxia OMIM:245348
Robinow Syndrome, Autosomal Recessive 2
Short nose, Wide nasal bridge, Posteriorly rotated ears, Low-set ears, Broad nasal tip, Anteverte... OMIM:618529
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Weight loss, Myocardial infarct... ORPHA:330001
Pontocerebellar Hypoplasia, Type 10
Short nose, Underdeveloped nasal alae, Hypertonia, Wide nasal bridge, Spasticity OMIM:615803
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ventric... ORPHA:1055
Maxillonasal Dysplasia
Short nose, Short columella, Abnormality of the nares, Depressed nasal ridge, Depressed nasal bridge ORPHA:1248
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:251274
Guanidinoacetate Methyltransferase Deficiency
Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor function, Chore... ORPHA:382
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Abnormality of the antihelix, Short nose, Aplasia/Hypoplasia of the lungs, Mi... ORPHA:2145
Autosomal Recessive Non-Syndromic Intellectual Disability
Chorea, Stereotypy, Spasticity ORPHA:88616
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Necrotizing Enterocolitis
Abnormal heart morphology, Hypotension, Hyponatremia, Small for gestational age, Shock, Hyperglyc... ORPHA:391673
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypogl... ORPHA:71212
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short nose, Underdeveloped nasal alae, Low-set, posteriorly rotated ears, Hypertonia, Protruding ... ORPHA:2031
Potocki-Lupski Syndrome
Atrial septal defect, Hypothyroidism, Hypocholesterolemia, Small for gestational age, Failure to ... OMIM:610883
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short nose, Macrotia, Low-set, posteriorly rotated ears, Hearing impairment, Anteverted nares ORPHA:2701
Hyperaldosteronism, Familial, Type I
Hypertension, Hyperaldosteronism, Decreased circulating renin level, Adrenal hyperplasia, Adrenog... OMIM:103900
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Anteverted nares, Recurrent otitis media, Sensorineural hearing impairment, Tracheobronchomalacia... ORPHA:500159
Meckel Syndrome, Type 8
Low-set ears, Short nose, Depressed nasal ridge OMIM:613885
Fetal Trimethadione Syndrome
Short nose, Overfolded helix, Low-set ears, Abnormality of the helix, Depressed nasal bridge ORPHA:1913
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Vitamin K Antagonist Embryofetopathy
Short nose, Choanal atresia, Hearing impairment, Anteverted nares, Microtia, Depressed nasal bridge ORPHA:1914
Robinow Syndrome, Autosomal Dominant 2
Short nose, Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, ... OMIM:616331
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Bradycardia, Pulmonary arterial hypertension OMIM:616299
Cholera
Hypocalcemia, Hypotension, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia, Hypokale... ORPHA:173
Macrocephaly-Developmental Delay Syndrome
Wide nasal bridge, Abnormal speech discrimination, Stereotypy, Recurrent pneumonia ORPHA:397612
Behavioral Variant Of Frontotemporal Dementia
Fasciculations, Upper motor neuron dysfunction, Stereotypy, Abnormality of extrapyramidal motor f... ORPHA:275864
Neuroleptic Malignant Syndrome
Hypocalcemia, Arrhythmia, Hypotension, Hypernatremia, Hyponatremia, Elevated circulating creatine... ORPHA:94093
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Macrotia, Stereotypy, Prominent nose ORPHA:391307
Codas Syndrome
Short nose, Overfolded helix, Crumpled ear, Abnormality of the larynx, Sensorineural hearing impa... ORPHA:1458
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Prominent nasal bridge, Anteverted nares, Macrotia, Chorea, Ataxia, Wide nasal bridge, Low-set ea... OMIM:300260
Mental Retardation, Autosomal Dominant 40
Low-set ears, Gait ataxia, Recurrent respiratory infections, Stereotypy OMIM:616579
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Supraventricular arrhythmia, Hypovolemia, Prolonged QRS ... ORPHA:90068
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Hypoglycemia OMIM:229700
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 level, Neonatal hyperbilirubinemia, Bradycardia, Elevated circulating th... ORPHA:95717
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Abnormal pyramidal sign, Ataxia, Hearing impairment, Spastic tetraplegia OMIM:256600
Pick Disease Of Brain
Stereotypy OMIM:172700
Linear Skin Defects With Multiple Congenital Anomalies 2
Posteriorly rotated ears, Short nose OMIM:300887
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Bulbous nose, Short nose, Poor coordination, Spasticity, Ataxia, Posteriorly rotated ears, Low-se... OMIM:618430
Mental Retardation, Autosomal Dominant 1
Short nose, Bulbous nose, Abnormality of the pinna, Ataxia, Abnormality of the outer ear, Low-set... OMIM:156200
Optic Atrophy-Intellectual Disability Syndrome
Anteverted nares, Short nasal bridge, Hearing impairment, Protruding ear, Abnormality of the heli... ORPHA:401777
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Tularemia
Tachycardia ORPHA:3392
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
Pituitary Hormone Deficiency, Combined, 1
Anteverted nares, Short nose, Depressed nasal bridge OMIM:613038
Distal Trisomy 18Q
Short nose, Anteverted nares, Low-set, posteriorly rotated ears, Choanal atresia, Prominent nasal... ORPHA:1716
Gitelman Syndrome
Palpitations, Hypotension, Increased circulating renin level, Ventricular tachycardia, Delayed pu... OMIM:263800
Ohdo Syndrome
Short nose, Wide nasal bridge, Hearing impairment, Stenosis of the external auditory canal, Antev... OMIM:249620
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebe... ORPHA:247815
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Weight loss, Hypoglycemia, Reduced C-peptide level, Hypoinsulinemia, Re... ORPHA:2126
Mental Retardation, Autosomal Dominant 34
Hearing impairment, Anteverted nares, Stereotypy OMIM:616351
Acromicric Dysplasia
Short nose, Anteverted nares, Bulbous nose ORPHA:969
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Ventricular arrhythmia, Palpitations, Syncope, Sudden cardiac death, Right ventricular cardiomyop... OMIM:609040
Coffin-Siris Syndrome 9
Abnormality of the columella, Short nose, Underdeveloped nasal alae, Abnormality of the nares, Po... OMIM:615866
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Low-set ears, Short nose, Depressed nasal bridge OMIM:614732
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Patent foramen... ORPHA:542306
Bainbridge-Ropers Syndrome
Prominent nasal bridge, Anteverted nares, Short nose, Broad nasal tip OMIM:615485
Developmental And Epileptic Encephalopathy 75
Short nose, Wide nasal bridge, Babinski sign, Anteverted nares, Spasticity OMIM:618437
Sepsis In Premature Infants
Hypotension, Decreased body weight, Small for gestational age, Tachycardia, Elevated circulating ... ORPHA:90051
Ethylene Glycol Poisoning
Hypocalcemia, Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Tachycard... ORPHA:31826
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Short nose, Macrotia, Hypertonia, Wide nasal bridge, Hearing impairment, Sensorineural hearing im... OMIM:300749
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia, Raynaud phenomenon, Syncope OMIM:616260
Apparent Mineralocorticoid Excess
Hypertension, Abnormality of circulating cortisol level, Decreased circulating renin level, Hypok... ORPHA:320
Porphyria Variegata
Hyponatremia, Hypertension, Tachycardia, Abnormal circulating porphyrin concentration, Inappropri... ORPHA:79473
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevated circulating... ORPHA:95716
Alazami Syndrome
Stereotypical hand wringing, Low-set ears, Stereotypy, Wide nose ORPHA:319671
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Atrial septal defect, Decreased circulating follicle stimulating hormone concentration, Hyperinsu... OMIM:619326
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Glucose intolerance, Impaired glucose tolerance, Atrioventricular block, Failure to thrive, Brady... OMIM:614407
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... ORPHA:35878
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypotension, Elevated circulating creatinine concentration, Tachycardia, Hypoalbumi... ORPHA:36234
Glutamine Deficiency, Congenital
Short nose, Wide nasal bridge, Low-set ears, Anteverted nares, Recurrent respiratory infections, ... OMIM:610015
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Short nose OMIM:300143
Radio-Tartaglia Syndrome
Tremor, Bulbous nose, Anteverted nares, Conductive hearing impairment, Ataxia, Wide nasal bridge,... OMIM:619312
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Hypertension, Insulin resistance ORPHA:363400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Abnormality of the thyroid gland, Hypogonadism, Diabetes mellitus, Bradycardia, Cardi... OMIM:609286
Clark-Baraitser Syndrome
Short nose, Depressed nasal bridge OMIM:617752
Weiss-Kruszka Syndrome
Short nose, Overfolded helix, Low-set ears, Cupped ear, Hearing impairment, Horizontal crus of he... OMIM:618619
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Microtia ORPHA:2547
Blepharophimosis-Impaired Intellectual Development Syndrome
Narrow nasal ridge, Recurrent bronchitis, Underdeveloped nasal alae, Wide nasal bridge, Posterior... OMIM:619293
Shukla-Vernon Syndrome
Wide nasal base, Stereotypy OMIM:301029
Gomez-Lopez-Hernandez Syndrome
Short nose, Hypertonia, Ataxia, Posteriorly rotated ears, Low-set ears, Anteverted nares OMIM:601853
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Abnormal cardiovascular system physiology, Hypertension, Ab... ORPHA:79086
Ebstein Malformation Of The Tricuspid Valve
Atrial septal defect, Arrhythmia, Abnormal endocardium morphology, Imperforate tricuspid valve, A... ORPHA:1880
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Spastic paraparesis, Bulbous nose, Short nose, Macrotia, Ataxia, Wide nasal bridg... ORPHA:369891
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Posteriorly rotated ears, Short nose, Thick nasal alae, Low-set ears ORPHA:163961
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Orthostatic hypotension, Elevated circulating creatinine concentra... OMIM:223900
Chromosome 5P13 Duplication Syndrome
Low-set ears, Bulbous nose, Stereotypy, Wide nasal bridge OMIM:613174
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Hyperurice... OMIM:203800
Ogden Syndrome
Enlarged naris, Underdeveloped nasal alae, Macrotia, Hypertonia, Short columella, Low-set ears, T... ORPHA:276432
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Camptodactyly Syndrome, Guadalajara Type 1
Short nose, Low-set, posteriorly rotated ears, Attached earlobe, Anteverted nares, Microtia, Depr... ORPHA:1327
Rett Syndrome, Congenital Variant
Apraxia, Bulbous nose, Chorea, Protruding ear, Depressed nasal bridge, Tongue thrusting, Stereoty... OMIM:613454
22Q11.2 Duplication Syndrome
Hearing impairment, Stereotypy, Depressed nasal ridge, Anterior creases of earlobe, Wide nose, Ab... ORPHA:1727
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short nose, Low-set ears, Depressed nasal bridge, Anteverted nares, Microtia, Wide nose OMIM:613320
Harel-Yoon Syndrome
Short nose, Ataxia, Spasticity OMIM:617183
Serotonin Syndrome
Hypotension, Tachycardia, Hypertension ORPHA:43116
Truncus Arteriosus
Adrenocortical abnormality, Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Abnor... ORPHA:3384
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Abnormal heart morphology, Pulmonary arterial hypertension, Tricuspid regur... ORPHA:505248
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Adenylosuccinase Deficiency
Gait ataxia, Short nose, Low-set ears, Opisthotonus, Myoclonus, Anteverted nares, Spasticity OMIM:103050
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Renal Nutcracker Syndrome
Weight loss, Tachycardia, Orthostatic hypotension, Syncope ORPHA:71273
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Increased circulating cortisol level, Neoplasm of the adrenal gland, Intracranial h... ORPHA:231625
Ogden Syndrome
Atrial septal defect, Arrhythmia, Ventricular septal defect, Ventricular extrasystoles, Ventricul... OMIM:300855
Autosomal Recessive Omodysplasia
Short nose, Posteriorly rotated ears, Low-set ears, Anteverted nares, Depressed nasal bridge ORPHA:93329
Fragile X Syndrome
Abnormal head movements, Macrotia OMIM:300624
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Gait ataxia, Abnormality of the pinna, Stereotypy, Spasticity OMIM:617807
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Bradycardia OMIM:614653
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Steatorrhea, Hypocholesterolemia OMIM:266510
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short nose, Bronchiectasis, Pneumonia, Low-set ears, Sinusitis, Anteverted nares, Chronic bronchi... OMIM:242860
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Short nose, Speech apraxia, Low-set ears, Aspiration pneumonia, Myoclonus, Recurrent pneumonia, A... ORPHA:314655
Lamb-Shaffer Syndrome
Stereotypy, Broad nasal tip, Ataxia, Upper motor neuron dysfunction ORPHA:530983
Stickler Syndrome Type 1
Sensorineural hearing impairment, Short nose ORPHA:90653
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Anteverted nares, Short nose, Broad nasal tip OMIM:137550
Bainbridge-Ropers Syndrome
Bulbous nose, Underdeveloped nasal alae, Hypertonia, Recurrent hand flapping, Long nose, Prominen... ORPHA:352577
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Short nose, Bulbous nose, Choanal atresia, Posteriorly rotated ears, Hearing impairment, Depresse... ORPHA:284169
Chromosome 3Q29 Duplication Syndrome
Short nose, Bulbous nose, Wide nasal bridge OMIM:611936
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Stereotypy, Broad nasal tip ORPHA:3306
Donnai-Barrow Syndrome
Posteriorly rotated ears, Sensorineural hearing impairment, Short nose, Depressed nasal bridge ORPHA:2143
Tetrasomy 18P
Low-set, posteriorly rotated ears, Short nose ORPHA:3307
Distal Monosomy 9P
Abnormality of the antihelix, Short nose, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia o... ORPHA:1642
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose ORPHA:2598
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Small for gestational age, Elevated circulating ... OMIM:618775
Microcephaly 26, Primary, Autosomal Dominant
Short nose, Spastic tetraparesis, Wide nasal bridge, Recurrent pneumonia, Stereotypical hand wrin... OMIM:619179
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... ORPHA:2298
Achondrogenesis
Aplasia/Hypoplasia of the lungs, Anteverted nares, Short nose ORPHA:932
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Stereotypy OMIM:618906
Diamond-Blackfan Anemia 8
Short nose, Wide nasal bridge OMIM:612563
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Warburg Micro Syndrome 2
Asymmetry of the ears, Short nose, Macrotia, Spastic diplegia, Prominent nasal bridge OMIM:614225
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Short nose, Ankle clonus, Ataxia, Low-set ears, Babinski sign, Anteverted nares, Depressed nasal ... OMIM:615398
Autism, Susceptibility To, 3
Stereotypy OMIM:608049
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Short nose, Hypertonia, Spasticity, Sensorineural hearing impairment, Narrow nasal bridge ORPHA:544503
9q subtelomeric deletion syndrome
Anteverted nares, Short nose DECIPHER:52
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Tachycardia, Weight loss, Syncope ORPHA:98849
Familial Dysautonomia
Hypertension, Tachycardia, Hyponatremia, Orthostatic hypotension ORPHA:1764
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Midsystolic murmur, Pulmonary arterial hypertension, Hypertensio... OMIM:600309
Disorder Of Sex Development-Intellectual Disability Syndrome
Severe sensorineural hearing impairment, Low-set, posteriorly rotated ears, Short nose, Microtia ORPHA:2983
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Oculocerebral Hypopigmentation Syndrome, Cross Type
Short nose, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia, Sensor... ORPHA:2719
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decre... ORPHA:90674
Non-Distal Trisomy 13Q
Abnormality of the antihelix, Aplasia/Hypoplasia of the earlobes, Short nose ORPHA:1702
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypertonia, Wide nasal bridge, Low-set ears, Lower limb spasticity, Protruding ear, Stereotypy, C... ORPHA:447997
Craniodigital-Intellectual Disability Syndrome
Short nose, Narrow nasal bridge ORPHA:1514
Even-Plus Syndrome
Microtia, Short nose, Depressed nasal ridge, Bifid nasal tip OMIM:616854
Axial Spondylometaphyseal Dysplasia
Anteverted nares, Short nose ORPHA:168549
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Short nose, Spastic paraparesis, Macrotia, Sensorineural hearing impairment, Anteverted nares, Wi... ORPHA:391408
Fetal Hydantoin Syndrome
Short nose, Low-set, posteriorly rotated ears, Abnormality of the pinna, Depressed nasal ridge, H... ORPHA:1912
Graft Versus Host Disease
Hyperbilirubinemia, Tachycardia, Failure to thrive ORPHA:39812
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries,... OMIM:617877
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Anteverted nares, Short nose, Depressed nasal bridge OMIM:618961
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs, Anteverted nares, Short nose ORPHA:93298
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Spasticity ORPHA:208447
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Short nose, Wide nasal bridge OMIM:618577
48,Xxyy Syndrome
Tremor, Chronic otitis media, Ataxia, Stereotypy, Recurrent respiratory infections ORPHA:10
Baraitser-Winter Syndrome 1
Short nose, Overfolded helix, Wide nasal bridge, Low-set ears, Sensorineural hearing impairment, ... OMIM:243310
3P25.3 Microdeletion Syndrome
Ataxia, Abnormality of the outer ear, Sensorineural hearing impairment, Depressed nasal bridge, S... ORPHA:435638
Short Stature, Developmental Delay, And Congenital Heart Defects
Stereotypy OMIM:617044
Cri-Du-Chat Syndrome