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Gene: Ackr3 MGI:109562

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Gene Summary

Name:
atypical chemokine receptor 3
Synonyms:
Rdc1,  Cxcr7,  Cmkor1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular hemoglobin concentration Ackr3tm2b(EUCOMM)Wtsi HET Early adult 1.60×10-05
decreased total retina thickness Ackr3tm2b(EUCOMM)Wtsi HET   Early adult 2.16×10-05
decreased grip strength Ackr3tm2b(EUCOMM)Wtsi HET Early adult 2.09×10-06
preweaning lethality, complete penetrance Ackr3tm2b(EUCOMM)Wtsi HOM   Early adult 0.00
tremors Ackr3tm2b(EUCOMM)Wtsi HET   Early adult 7.93×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Ackr3 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.

The table below shows human diseases associated to Ackr3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oculomotor-Abducens Synkinesis
OMIM:619215

The table below shows human diseases predicted to be associated to Ackr3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... OMIM:615779
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Pulmonary fibrosis... OMIM:616373
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Honeycomb lung, Pu... OMIM:616371
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Right ventricular dilata... ORPHA:2041
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Ethanolaminosis
Death in infancy, Cardiomegaly OMIM:227150
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement OMIM:615377
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Congenital Gerbode Defect
Crackles, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpholog... ORPHA:99095
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency ORPHA:2111
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Cyanosis, Tricuspid regurgitation, Splenomegaly, Congestive h... ORPHA:2414
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch... ORPHA:860
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale, Lymphocytic interstitial pneumonia OMIM:247610
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Congenital Aortic Valve Stenosis
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... ORPHA:3093
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Tricuspid Atresia
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persist... ORPHA:1209
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Criss-Cross Heart
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition... ORPHA:1461
Cardiomyopathy, Familial Restrictive, 6
Death in infancy, Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyo... OMIM:619433
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insufficiency OMIM:178550
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... ORPHA:228410
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... OMIM:614823
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,... OMIM:619477
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Isolated Right Ventricular Hypoplasia
Cyanosis, Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right vent... ORPHA:439
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Asthma, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... OMIM:619371
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Double outlet right ventricle, Cough,... OMIM:618254
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... OMIM:620294
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... ORPHA:133
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... OMIM:615382
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... OMIM:185500
Sarcoidosis, Susceptibility To, 2
Facial palsy, Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonar... OMIM:612387
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Familial Aortic Dissection
Aortic regurgitation, Cutis marmorata, Cardiomegaly, Descending thoracic aorta aneurysm, Patent d... ORPHA:229
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve calcification, Aortic valve stenosis OMIM:114065
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... ORPHA:2302
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis ORPHA:2871
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cyanosis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Do... ORPHA:3304
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... ORPHA:402075
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Atrial Fibrillation, Familial, 10
Right ventricular dilatation, Left ventricular hypertrophy, Stroke, Left atrial enlargement OMIM:614022
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... ORPHA:2299
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Palmoplantar cutis laxa OMIM:618499
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul... OMIM:610476
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,... OMIM:231005
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Systolic anterior moti... OMIM:620236
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Limb-girdle muscle weakness, Achilles... ORPHA:254361
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... OMIM:615451
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Right ventricular dilatation, B lymphocyto... OMIM:619705
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... ORPHA:79126
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... ORPHA:363705
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Decreased nasal nitric oxide, B... OMIM:612444
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... OMIM:115197
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Crackles, Abnormal pleura morphology, Dyspnea, Myocardial fibrosis, Restrictive ventilatory defec... ORPHA:210136
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:608644
Double Outlet Right Ventricle
Tachycardia, Cyanosis, Ventricular septal defect, Tachypnea, Double outlet right ventricle, Heart... ORPHA:3426
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... OMIM:220210
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... ORPHA:1354
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Congestiv... ORPHA:615
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... ORPHA:3427
Sarcosinemia
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:3129
Singleton-Merten Syndrome 2
Aortic valve calcification, Aortic valve stenosis OMIM:616298
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cyanosis, Tricuspid regurgitati... ORPHA:555874
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Stillbirth, Aortic valve stenosis, Pulm... OMIM:615415
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Cor pulmonale, Respiratory failure, Cough OMIM:263000
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:300991
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... ORPHA:99104
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular r... OMIM:601927
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis OMIM:607016
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function OMIM:165300
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... ORPHA:210122
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:615504
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... OMIM:620203
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Congenital Heart Block
Cyanosis, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive he... ORPHA:60041
Scedosporiosis
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... ORPHA:449280
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... ORPHA:99106
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchie... OMIM:611884
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation OMIM:615616
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... OMIM:614561
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Death in childhood OMIM:253300
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Crescentic glomerulonephritis, Ar... OMIM:616414
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Epistaxis, Mitral valve prolapse, Gastrointestinal angiodysplasia, A... OMIM:193400
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... OMIM:614096
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Orthopnea, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, S... ORPHA:75249
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Crackles, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diff... ORPHA:99931
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Nodular pattern on pulmonary HRCT, Cough ORPHA:60026
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation OMIM:220220
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Death in infancy, Left atrial enlargement, Left ventricular noncompaction cardiomyo... OMIM:619424
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency,... OMIM:617021
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Cardiac Valvular Dysplasia 1
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tricuspid ... OMIM:212093
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Atrial sep... OMIM:610978
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Recurrent otiti... OMIM:620032
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Mitral regurgitation, Pulm... OMIM:615355
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... OMIM:614473
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Left superior vena cava drai... OMIM:613759
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... OMIM:612422
Riddle Syndrome
Pulmonary fibrosis OMIM:611943
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi... OMIM:612877
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ... OMIM:615067
Craniosynostosis 1
Aortic valve stenosis, Systolic heart murmur OMIM:123100
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis OMIM:252605
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat... ORPHA:980
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... OMIM:619897
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:615505
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Mungan Syndrome
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Gaucher Disease, Type I
Hepatomegaly, Epistaxis, Splenomegaly, Dyspnea, Hypertension, Mitral regurgitation, Pulmonary art... OMIM:230800
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Alkaptonuria
Aortic valve calcification, Mitral valve calcification, Coronary artery calcification, Aortic ane... OMIM:203500
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Hepatomegaly ORPHA:422
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia OMIM:617018
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... OMIM:609008
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Death in infancy, Ventricular septal defect, Jaundice, Epiphyseal stippling OMIM:614876
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... OMIM:617877
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... OMIM:253700
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness OMIM:300580
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r... OMIM:614679
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
3-Methylglutaconic Aciduria, Type Iv
Biventricular hypertrophy, Neonatal respiratory distress, Subvalvular aortic stenosis OMIM:250951
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... OMIM:615481
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Combined Immunodeficiency, X-Linked
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media OMIM:312863
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Restrictive ventilatory defect, Pulmonary fibrosis, Joint contracture, E... OMIM:615704
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis OMIM:617175
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... OMIM:179613
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... ORPHA:444013
Alkaptonuria
Mitral valve calcification, Abnormal heart valve morphology, Coronary artery calcification, Aorti... ORPHA:56
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Prematu... ORPHA:363618
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dyspnea, Asthma, Chronic pulmonary obstruction, H... ORPHA:1163
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Crackles, Dyspnea, Reticular pattern on pulmonary HRCT, Pulmonary fibrosis, Cough, Decreased DLCO... OMIM:614742
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Scimitar Syndrome
Respiratory distress, Heart block, Pulmonary artery hypoplasia, Cough, Atrial septal defect, Sing... ORPHA:185
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Snijders Blok-Campeau Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:618205
Gaucher Disease Type 3
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Pericard... ORPHA:77261
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Progeroid facial appearance, Aortic valve stenosis, Pulmonic stenosis ORPHA:75496
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... ORPHA:3400
3C Syndrome
Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid... ORPHA:7
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia OMIM:618806
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defe... OMIM:306955
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di... OMIM:612863
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Mitral atresia, Patent ductus arteriosus, Double outlet right vent... OMIM:618164
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ... OMIM:616749
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Abnormal cardiac septu... OMIM:601612
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Congenital Laryngeal Web
Respiratory distress, Stridor, Abnormal cardiac septum morphology ORPHA:2374
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular d... OMIM:164500
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... ORPHA:1677
Felty Syndrome
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Hepatomegaly, Recurrent ... ORPHA:47612
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
Cardiomyopathy, Familial Hypertrophic, 16
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... OMIM:613838
Atrial Septal Defect 9
Secundum atrial septal defect, Bicuspid aortic valve OMIM:614475
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Productive cough, ... OMIM:615482
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C... ORPHA:216873
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Gait ataxia ORPHA:217012
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough ORPHA:930
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,... OMIM:617478
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Adams-Oliver Syndrome 5
Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Paten... OMIM:616028
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Joint contracture of the hand, Foot joint contracture, Pulmonary... ORPHA:220402
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Pulmonary fibrosis OMIM:611926
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Pneumonia, Abnormality on pulmonary function testing, E... ORPHA:97244
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Alagille Syndrome 2
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... OMIM:610205
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Death in infancy, Patent ductus arteriosus, Perimembranous ventricular septal defec... OMIM:608104
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Clonus, Babinski sign, Dysmetria, Hypochromic microcytic anemia, Dysdiadoch... OMIM:301310
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmon... OMIM:618845
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Bronchiectasis, Ulcerative colitis, Colitis, Pulmonary fibros... OMIM:618394
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Hepatomegaly, Skin rash, Eczema, Crackles, Respiratory tract infection,... ORPHA:79128
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Congenital Myopathy 8
Congestive heart failure, Reduced vital capacity, Respiratory insufficiency, Cardiomegaly OMIM:618654
Antisynthetase Syndrome
Recurrent respiratory infections, Myositis, Skin rash, Myocarditis, Abnormal pulmonary interstiti... ORPHA:81
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Otitis media, R... OMIM:608971
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Pulmonary Arteriovenous Malformation
Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Heart murm... ORPHA:2038
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... OMIM:616481
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Legius Syndrome
Supravalvar pulmonary stenosis OMIM:611431
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Dec... OMIM:617092
Peripartum Cardiomyopathy
Left atrial enlargement, Myocarditis, Dilated cardiomyopathy, Abnormal atrioventricular valve mor... ORPHA:563
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... OMIM:619657
Microphthalmia, Syndromic 9
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atrium, Respiratory insuffi... OMIM:601186
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Chronic bronchitis, Si... OMIM:616037
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... ORPHA:3097
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Death in infancy, Hypertrophic cardiomyopathy, Respiratory insufficiency due to m... OMIM:617184
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Geleophysic Dysplasia 2
Hepatomegaly, Tricuspid stenosis, Respiratory insufficiency, Mitral valve prolapse, Mitral regurg... OMIM:614185
Serkal Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:139466
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... ORPHA:2306
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:615500
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Recur... OMIM:609029
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic regurgitation, Carotid artery dissection, Progeroid facial appear... OMIM:208050
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Death in infancy, Respiratory distress OMIM:616974
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Right ventricular dilatation, Hepatomegaly, Hepatic steatosis ORPHA:369840
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Dextrocardia, Secundum atrial septal defect, Asth... ORPHA:2257
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Polymyositis
Pericarditis, Abnormal muscle fiber morphology, Dilated cardiomyopathy, Abnormal pulmonary inters... ORPHA:732
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... OMIM:612098
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Recurren... OMIM:608647
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis OMIM:617660
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Dyspnea, Patent ductus arte... ORPHA:555877
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otit... OMIM:614017
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Lymphadenitis, Chronic pulmonary obstruction, Recurrent pneumon... OMIM:618986
Developmental Delay, Language Impairment, And Ocular Abnormalities
Pulmonic stenosis, Facial telangiectasia OMIM:620141
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Stuve-Wiedemann Syndrome 2
Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Neonatal death,... OMIM:619751
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Decreased ... OMIM:618063
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart... ORPHA:363444
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetri... OMIM:608758
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Respiratory failure OMIM:618804
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Biventricu... OMIM:613243
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Dyspnea, Abnormal cardiovascular system physiology, Abnormal ... ORPHA:50251
Glutathione Synthetase Deficiency
Hemolytic anemia, Ataxia, Spastic tetraparesis, Pigmentary retinopathy, Neutropenia, Intention tr... OMIM:266130
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular septal hypertrophy, Right bundle branc... OMIM:115195
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Asthma, Pate... OMIM:601808
Baraitser-Winter Syndrome 1
Patent ductus arteriosus, Aortic valve stenosis, Bicuspid aortic valve OMIM:243310
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Hepatosplenomegaly, Atrial... OMIM:267010
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Death in infancy, Secundum atrial septal defect, Splenomegaly, Jaundice, Congestive... OMIM:608779
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Pulmonic stenosis, Atrial septal defect OMIM:618282
Mixed Connective Tissue Disease
Prolonged bleeding time, Myositis, Pericarditis, Skin rash, Gastritis, Hepatomegaly, Myocarditis,... ORPHA:809
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... ORPHA:1600
Immunodeficiency 13
Recurrent upper respiratory tract infections, Bronchiolitis obliterans organizing pneumonia, Bron... OMIM:615518
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... OMIM:616564
Mucopolysaccharidosis, Type X
Left ventricular hypertrophy, Aortic valve stenosis, Thickened aortic valve cusp, Aortic regurgit... OMIM:619698
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Frequent falls, Hemiballismus ORPHA:494526
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy ORPHA:26792
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency OMIM:610773
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Death in infancy, Cardiomegaly, Death in childhood, Pulmonary arterial hypertension OMIM:619064
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Cough... ORPHA:96170
Intellectual Developmental Disorder, Autosomal Dominant 45
Heart murmur, Pulmonic stenosis OMIM:617600
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis, Hyperventilation OMIM:614325
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti... ORPHA:90060
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Hepatomegaly, Dyspnea, Splenomegaly, Abnormal pulmonary interst... OMIM:607616
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Cutis marmorata, Pulmonary artery stenosis, Hyp... OMIM:100300
Sneddon Syndrome
Bicuspid aortic valve, Cutis marmorata, Cerebral hemorrhage, Livedo reticularis, Livedo, Hyperten... OMIM:182410
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Lipoid pneumonia, Hypertrophic cardiomyopathy, Respiratory failure, Nocturnal hypoventil... OMIM:620326
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... OMIM:613808
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... OMIM:612650
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Conotruncal defect, Coarctation of aorta, Abnormal cardiac septum morpholog... ORPHA:96147
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Apnea, Ventricular septal defect, Respiratory failure, Bradycardia, Hypertrophi... OMIM:616277
Gaucher Disease
Death in infancy, Mitral valve calcification, Hepatomegaly, Abnormal heart valve morphology, Abno... ORPHA:355
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Noonan Syndrome 5
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pulmonary fibrosis OMIM:614743
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Splenomegaly, Eczematoid dermatitis OMIM:269840
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonic stenosi... OMIM:608149
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... OMIM:600001
Meacham Syndrome
Accessory spleen, Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardi... OMIM:608978
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Cyanosis, Anomalous origin of left coronary artery from the pulmonary arter... ORPHA:2326
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis ORPHA:306550
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Cardiofaciocutaneous Syndrome 4
Ventricular septal hypertrophy, Abnormal aortic valve morphology, Pulmonic stenosis OMIM:615280
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis med... OMIM:613193
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Chronic otitis media, Neonatal respiratory distress, Abnormal atrial arra... ORPHA:244
Pulmonary Capillary Hemangiomatosis
Cyanosis, Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Dyspnea, ... ORPHA:199241
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Coronary artery calcification... OMIM:208000
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Myositis, Scapular winging, Skin rash, Myocarditis, Abnormal pulmonary i... ORPHA:206569
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Aortic valve stenosis ORPHA:459061
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ... ORPHA:314978
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Situs inversus tot... OMIM:615444
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Cardiomyopathy, Respiratory insufficiency, Global systolic dysfunction OMIM:606842
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhiniti... OMIM:614935
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp... OMIM:613873
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Abnormal pulmonary valve morphology, Myocar... ORPHA:500
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Hepatomegaly, Hypertrophic cardiomyopathy, Respiratory insufficiency due to... OMIM:613561
Leukoencephalopathy With Ataxia
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ... OMIM:615651
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Abnormal lef... ORPHA:45452
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Mitral valve calcification, Pancytopenia, Aortic valve calcification, Abnormality of the spleen, ... ORPHA:2072
Migraine, Familial Hemiplegic, 1
Tremor, Hemiplegia, Ataxia, Hemiparesis OMIM:141500
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arterios... OMIM:601005
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, U... OMIM:618935
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cardiomyopathy, Cough, Left ventricular hypertrophy ORPHA:86812
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... ORPHA:98762
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia OMIM:617638
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Abnormal optic nerve morphology, Macular dys... ORPHA:33445
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia OMIM:612126
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Noonan Syndrome 6
Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613224
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... OMIM:277600
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitra... OMIM:212140
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Cardiac arrest, Splenomegaly, Cough, Abnormal pattern of resp... ORPHA:77260
Congenital Fibrinogen Deficiency
Tachycardia, Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Internal hemorrhage... ORPHA:335
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respirat... OMIM:614299
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis ORPHA:1131
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... OMIM:605275
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Portal hypertension, Situs inversus totalis, Splenomegaly, Patent ductus arteriosus... OMIM:208540
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart mo... ORPHA:2847
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... ORPHA:314632
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Anoma... ORPHA:1120
Trisomy 17P
Patent ductus arteriosus, Aortic valve stenosis, Hypoplastic left heart ORPHA:261290
Braddock Syndrome
Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary fibrosis, Congenital mu... ORPHA:52047
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax, Chronic pulmonary obstruct... OMIM:619825
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Cirrhosis,... ORPHA:101028
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Hypertension, Respiratory distress OMIM:616733
Nemaline Myopathy 9
Ventricular septal defect OMIM:615731
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crackles, ... ORPHA:264675
Pseudo-Torch Syndrome 3
Death in infancy, Apnea, Cerebral hemorrhage, Cardiomegaly, Respiratory insufficiency, Hypertension OMIM:618886
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Noonan Syndrome 4
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... OMIM:610733
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Mitra... OMIM:620233
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Cardiomyopathy, Inflammation of the large intestine, Colitis,... OMIM:203300
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... OMIM:617284
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Eczema, Oligoarthritis, Pulmonary fibrosis, Erythroderma OMIM:619510
Cenani-Lenz Syndactyly Syndrome
Pulmonic stenosis OMIM:212780
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... OMIM:613807
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Respiratory arrest OMIM:600649
Pulmonary Alveolar Microlithiasis
Mitral valve calcification, Bronchitis, Respiratory tract infection, Nonproductive cough, Dyspnea... ORPHA:60025
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Sup... ORPHA:97214
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:612561
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Cardiac arrest, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respirator... ORPHA:70587
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Restrictive ventilatory defect, Mitral regurgitation, Intimal thickening in the cor... OMIM:253010
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Abnormal heart morphology ORPHA:1143
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg... ORPHA:308552
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep... OMIM:158170
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... ORPHA:435638
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613706
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Respiratory distress, Ventricular septal defect... ORPHA:26793
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hepatomegaly, Death in infancy, Cardiac arrest, Myofiber disarray, Hypertro... OMIM:604377
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... OMIM:618652
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Death in childhood OMIM:269920
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... OMIM:606763
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Patent ductus arteriosus, Mi... OMIM:602782
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis OMIM:619123
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Pulmonic stenosis OMIM:618914
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... OMIM:616276
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:1839
Ectodermal Dysplasia-Syndactyly Syndrome 2
Ectodermal dysplasia, Cardiomegaly OMIM:613576
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Upper limb muscle weakness, Respirat... ORPHA:90117
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased p... ORPHA:70591
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Myocardial fibrosis, Respiratory insufficiency, Transposition of the grea... OMIM:253800
Hermansky-Pudlak Syndrome 4
Restrictive ventilatory defect, Epistaxis, Pulmonary fibrosis OMIM:614073
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... OMIM:613101
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Congenital Myopathy 11
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619967
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia, Heart murmur, Abnormal heart morphology ORPHA:1867
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Abnormal left ventricular function, Pulmonic stenosis, P... OMIM:301056
Monosomy 13Q34
Hematochezia, Common atrium, Epistaxis, Pulmonic stenosis ORPHA:96168
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiec... OMIM:620197
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova... ORPHA:2255
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Coarctation of aorta ORPHA:2780
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Microlissencephaly
Pneumonia ORPHA:1083
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Intellectual Developmental Disorder, Autosomal Dominant 43
Pulmonic stenosis OMIM:616977
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia ORPHA:3405
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... ORPHA:209905
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... OMIM:617091
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Myositis, Skeletal muscle atrophy, Skin rash, Pustule, Tachypne... OMIM:615934
Halperin-Birk Syndrome
Aspiration, Perimembranous ventricular septal defect, Death in childhood OMIM:618651
Costello Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse ORPHA:3071
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Atrial septal defect... OMIM:309801
Formiminoglutamic Aciduria
Atrial septal defect, Anemia, Megaloblastic anemia ORPHA:51208
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria ORPHA:363710
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... ORPHA:251282
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Bicuspid aortic valve OMIM:617744
Dystonia 12
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia OMIM:128235
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilated cardio... ORPHA:367
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... OMIM:115470
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... ORPHA:100078
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... ORPHA:401935
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect, Hepatic cysts OMIM:263630
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Neonatal respiratory distress, Pulmonary arterial hypertension OMIM:619003
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect, Thrombocytopenia ORPHA:49827
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Splenomegaly, Cardiomyopathy, Stroke ORPHA:79312
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Myocardial infarction, Intracranial hemorrhage, Generalized ... ORPHA:740
Riddle Syndrome
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... ORPHA:420741
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... OMIM:610910
Cd8 Deficiency, Familial
Recurrent respiratory infections, Bronchiectasis OMIM:608957
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... OMIM:613490
Congenital Left Ventricular Aneurysm
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma... ORPHA:1055
Atypical Werner Syndrome
Premature arteriosclerosis, Hepatic steatosis, Prominent superficial veins, Abnormal cerebral vas... ORPHA:79474
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Mitral regurgitati... OMIM:608328
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... OMIM:249270
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Death in infancy, Ventricular septal defect, Hepatomegaly OMIM:613730
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Death in infancy, Sudden cardiac death, Cardiomegaly, Tachypnea, Reduced left ventr... OMIM:201475
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus ORPHA:98763
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait OMIM:600363
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal pericardium morphology, Abnormal ... ORPHA:2357
Noonan Syndrome 3
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... OMIM:609942
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Cyanosis, Sudden episodic apnea, Ventricular tachycardia, Respiratory insufficiency... ORPHA:159
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Pigmentary retinopathy, Spasticity, Rod-cone dystrophy, Intention tr... OMIM:614307
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary arterial hypertension, Pulmonary venous occlusion, Interlobular septal thickening OMIM:265450
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Neonatal death, Atrial septal defect, Atrioventric... OMIM:265380
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... ORPHA:2396
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea OMIM:617577
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Cyanosis, Ventricular septal defect... ORPHA:137675
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Exertional dyspnea, Syncope, Pulmonary arterial hyper... OMIM:265400
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Respiratory insufficiency, Membranous subvalvular aortic stenosis, Subvalvular aortic... ORPHA:3191
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Ogden Syndrome
Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardi... OMIM:300855
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Osteomyelitis, Skin rash, Pustule, Splenomegaly, Pulmonary fi... OMIM:612852
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Noonan Syndrome 14
Aortic regurgitation, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic cardiomyopathy, Brui... OMIM:619745
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Pulmoni... OMIM:201000
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Skeletal muscle atrophy, Internally nucleated skeletal muscle f... ORPHA:98905
Reactive Arthritis
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Respiratory insufficiency, Enth... ORPHA:29207
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Varicose veins, Pulmonic stenosis, Aortic dissection, Bruising susceptibility, Vascular dilatation OMIM:618343
Keutel Syndrome
Sinusitis, Miscarriage, Ventricular septal defect, Hypertension, Pulmonary artery hypoplasia, Pul... OMIM:245150
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Bicuspid aortic valve OMIM:614501
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Restrictive ventilatory defect, Pulmonary fibrosis OMIM:619767
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly... ORPHA:290
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Anauxetic Dysplasia 1
Aortic valve stenosis OMIM:607095
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Geleophysic Dysplasia 1
Hepatomegaly, Tricuspid stenosis, Congestive heart failure, Aortic valve stenosis, Mitral stenosis OMIM:231050
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Retinitis Pigmentosa 89
Bicuspid aortic valve, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic... OMIM:618955
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recur... OMIM:607594
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Ventricular septal defect, Splenomegaly, Coarctation of aorta, Leukopenia, Lymphopenia OMIM:620210
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Atelis Syndrome 2
Dyspnea, Patent ductus arteriosus, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic ... OMIM:620185
Alg9-Cdg
Hepatomegaly, Ventricular septal defect, Pericardial effusion, Abnormal heart morphology, Right v... ORPHA:79328
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Pulmonary fibrosis ORPHA:457240
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Spleno... OMIM:612541
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pericardial effusion, Dyspnea, Iridocyclitis, Splenomegaly, Bronchiectasis, Uveitis... OMIM:181000
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Aortic valve stenosis, Bicuspid aortic valve, Lack of facial subcutaneous fat OMIM:176690
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Tremor, Rigidity, Splenomegaly, Dystonia, Thrombocytopenia OMIM:615010
Watson Syndrome
Pulmonic stenosis OMIM:193520
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media OMIM:601457
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect OMIM:612527
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Spastic paraparesis ORPHA:329284
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:615802
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Hepatomegaly, Splenomegaly, Impaired ADP-induced platelet aggregation, R... OMIM:608233
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Abnormal heart rate v... ORPHA:70588
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Pneumonia, Right... ORPHA:97287
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Abnormal pericardium morphology, Myocardial... ORPHA:183
Kabuki Syndrome 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta OMIM:300867
Arterial Tortuosity Syndrome
Respiratory distress, Myocardial infarction, Prematurely aged appearance, Pulmonary artery stenos... ORPHA:3342
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Cardiomegaly, Tachypnea, Hypertension, Death in childhood, Pulmonary arterial h... OMIM:613320
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... ORPHA:217390
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Cardiomegaly ORPHA:858
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Ventricular septal defect, Ascending aorta hypoplasia, Neonatal a... ORPHA:141127
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Cutis marmorata, Bicuspid aortic valve, Patent ductus arteriosus, Pulm... OMIM:610759
Hypoglossia With Situs Inversus
Situs inversus totalis, Upper airway obstruction, Respiratory distress OMIM:612776
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Spinocerebellar Ataxia 23
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia OMIM:610245
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion OMIM:614702
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopath... OMIM:235200
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly ORPHA:391428
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale, Respiratory distress ORPHA:89844
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy... OMIM:615745
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic ... OMIM:617506
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, ... ORPHA:2519
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Noonan Syndrome 12
Lymphopenia, Tetralogy of Fallot, Ventricular septal defect, Thrombocytopenia OMIM:618624
Toriello-Carey Syndrome
Neonatal respiratory distress, Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Ab... ORPHA:3338
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus... OMIM:606003
Erdheim-Chester Disease
Osteomyelitis, Skin rash, Abnormal pericardium morphology, Dyspnea, Abnormal pulmonary interstiti... ORPHA:35687
Primary Effusion Lymphoma
Pericardial effusion, Dyspnea, Pleural effusion ORPHA:48686
Diffuse Cutaneous Systemic Sclerosis
Dyspnea, Flexion contracture, Arthritis, Pulmonary fibrosis, Pulmonary arterial hypertension ORPHA:220393
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... ORPHA:98897
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis,... OMIM:244400
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect OMIM:272950
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia OMIM:615550
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... OMIM:619313
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Coarc... ORPHA:508498
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:1338
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... ORPHA:397946
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Reduced forced vital capacity, Mitral stenosis, Respiratory insufficiency due to muscle weakness,... OMIM:619461
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Abnormal capillary physiology, Angioedema, Erythema, Upper airway obstructi... ORPHA:100057
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Bicuspid aortic valve, Splenomegaly, Hepatosplenomegaly, Mitral regurgitation, Chylothorax, Aorti... OMIM:613563
Atelis Syndrome 1
Ventricular septal defect, Anemia, Leukopenia, Atrial septal defect, Thrombocytopenia OMIM:620184
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Chronic pulmon... OMIM:616576
Dohle Bodies And Leukemia
Secundum atrial septal defect, Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia OMIM:223350
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Dyspnea, Nonproductive cough, Atelectasis, Wheezing, Asthma, Hypersensitivity pneumonit... ORPHA:2902
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Cutis marmorata, Tracheomalacia, Patent ductus arteriosus, Atrial sept... ORPHA:96121
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Truncus arteriosus OMIM:616589
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Cardiomyopathy, Dilated, 1Oo
Atrial septal defect, Dilated cardiomyopathy OMIM:620247
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Hepatomegaly, Chronic mucocutaneous candidiasis, Hepatosplenome... ORPHA:79124
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurrent pneumo... OMIM:619644
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Aortic root aneurysm,... OMIM:610443
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Buerger Disease
Vasculitis, Acrocyanosis ORPHA:36258
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis OMIM:619126
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
Staphylococcal Necrotizing Pneumonia
Shock, Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hy... ORPHA:36238
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... OMIM:619167
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia ORPHA:324588
Isolated Atp Synthase Deficiency
Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:254913
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Ventricular septal defect, Cholestasis ORPHA:1296
Cerebrofacioarticular Syndrome
Tracheomalacia, Pulmonic stenosis, Abnormal heart morphology ORPHA:314679
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250
Juvenile Dermatomyositis
Calcinosis, Myositis, Pericarditis, Skin rash, Dyspnea, Restrictive ventilatory defect, Arthritis... ORPHA:93672
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Typhoid
Hepatomegaly, Skin rash, Epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphology, Cou... ORPHA:99745
Brittle Cornea Syndrome
Bruising susceptibility, Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Pneumonia, Asth... ORPHA:353281
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pulmonary artery, Abnormal aor... ORPHA:1166
Alpha-N-Acetylgalactosaminidase Deficiency
Recurrent pneumonia, Vascular skin abnormality, Cardiomegaly ORPHA:3137
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Respiratory insufficie... OMIM:139210
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Recurrent respiratory infections, Hepatomegaly, Cardiomegaly, Atelectasi... OMIM:618278
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Bronchiectasis, Arthritis, Recurrent otitis media, Recurre... ORPHA:397596
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Death in infancy ORPHA:93946
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat... OMIM:300280
Waardenburg Syndrome Type 3
Atrial septal defect, Acrocyanosis, Tracheomalacia ORPHA:896
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction OMIM:253250
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal jugular vein morphology, Increased pulmonary vascular resistanc... ORPHA:275766
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... OMIM:143095
Granulomatosis With Polyangiitis
Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent intrapulmonary hemorrhage, E... ORPHA:900
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Osteoarthritis, Bronchiectasis, Small thenar eminence, Distal lower limb muscle... OMIM:620080
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Dyspnea, Heart murmur, Stroke, Bacterial endocard... ORPHA:1054
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... ORPHA:392
Rajab Interstitial Lung Disease With Brain Calcifications 2
Decreased muscle mass, Abnormal pulmonary interstitial morphology, Hepatosplenomegaly, Restrictiv... OMIM:619013
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Abnormal heart valve morphology, Respiratory insufficiency, Restrictive ve... ORPHA:536471
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Hereditary Methemoglobinemia
Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity, Methemoglobinemia ORPHA:621
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Retinal dystrophy,... ORPHA:713
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Arterial dissection, Arterial tortuosity, Patent ductu... ORPHA:284984
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Dyspnea, Death in childhood, Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:613870
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re... OMIM:620300
Interstitial Lung And Liver Disease
Hepatomegaly, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Abnorm... OMIM:615486
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Left atrial enlargement, Progeroid facial appearance, Dyspnea, Right... OMIM:614008
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis OMIM:618223
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Congestive heart failure, Nonprod... ORPHA:454836
Bone Marrow Failure Syndrome 5
Pulmonary fibrosis OMIM:618165
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Stiff Skin Syndrome
Bicuspid aortic valve OMIM:184900
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cherry red spot... OMIM:256550
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology... ORPHA:904
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Takenouchi-Kosaki Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Pulmonic stenosis OMIM:616737
Klippel-Trénaunay Syndrome
Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, Venous insufficiency, Patent d... ORPHA:90308
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot OMIM:300887
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia OMIM:618049
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect ORPHA:2516
Refsum Disease, Classic
Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly OMIM:266500
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:464311
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... OMIM:614609
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:610655
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Dyspnea, Myocarditis,... ORPHA:90291
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... ORPHA:488618
Jacobsen Syndrome
Death in infancy, Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic... ORPHA:2308
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Spinocerebellar Ataxia With Epilepsy
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:254881
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Pulmonic s... OMIM:222470
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia OMIM:266265
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Chromosome 13Q33-Q34 Deletion Syndrome
Left ventricular hypertrophy, Patent ductus arteriosus, Pulmonic stenosis OMIM:619148
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Orthopnea, Transient ischemic attack, Thoracic aortic aneurys... ORPHA:365
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity OMIM:213200
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Arrhythmia, Exertional dyspnea, Cardiomegaly ORPHA:42
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Patent ductus arteriosus, Persistence of hemoglobin F, Increased size ... OMIM:619769
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Ventricular septal defect OMIM:617895
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Slc35A1-Cdg
Respiratory distress, Prolonged bleeding time, Pneumonia, Hypoxemia, Pulmonary hemorrhage ORPHA:238459
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Inflammatory abnormality of the skin, Cholangitis,... ORPHA:3260
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Patent foramen ovale OMIM:617182
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
46,Xx Gonadal Dysgenesis
Pulmonary fibrosis ORPHA:243
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Pneumonia, Eczema, Splenomegaly, Asthma OMIM:607271
Q Fever
Respiratory distress, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pneumonia, Per... ORPHA:781
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... OMIM:239850
Overlap Myositis
Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Abnormal pulmonary ... ORPHA:206572
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Asp... ORPHA:314655
Fanconi Anemia, Complementation Group O
Neonatal death, Death in infancy, Miscarriage, Abnormal heart morphology OMIM:613390
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus OMIM:619028
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Respiratory... OMIM:220110
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia OMIM:618067
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Perimembranous ventricular septal defect OMIM:606812
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Behr Syndrome
Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Hypoplastic optic chiasm, Progressive sp... OMIM:210000
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s... ORPHA:96
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:464306
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Excessive wrinkled skin, Pulmonic stenosis, Atrial septal defect... ORPHA:1340
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart OMIM:618142
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta OMIM:616145
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Stroke ORPHA:268943
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... OMIM:615157
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy, Pulmonary fibrosis OMIM:613989
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atr... OMIM:618316
Meckel Syndrome 14
Tricuspid regurgitation, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Mitral regurgitation, ... OMIM:619879
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia OMIM:617916
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... OMIM:612474
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Doubl... OMIM:300166
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Splenomegaly, Respiratory insufficiency, Respiratory... OMIM:607625
Tbck-Related Intellectual Disability Syndrome
Respiratory insufficiency, Asthma, Ventricular septal defect, Pulmonic stenosis ORPHA:488632
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dyspnea... OMIM:614921
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Hepatomegaly, Situs inversus totalis OMIM:619881
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia ORPHA:306669
Mend Syndrome
Aortic valve stenosis, Abnormal heart morphology ORPHA:401973
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Respiratory f... ORPHA:158687
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... OMIM:615009
Leopard Syndrome 1
Bundle branch block, Complete atrioventricular canal defect, Mitral valve prolapse, Third degree ... OMIM:151100
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage, Hepatomegaly OMIM:251000
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arterios... OMIM:270100
Peroxisome Biogenesis Disorder 5B
Ataxia, Retinal dystrophy, Tremor, Dysmetria, Oculomotor apraxia, Rod-cone dystrophy OMIM:614867
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Respiratory distress, Tracheomalacia, Situs inversus totalis OMIM:202650
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic... ORPHA:79263
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Tricuspid regurgitation, Cardiomegaly OMIM:620306
Distal Deletion 19P
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... ORPHA:240085
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Secundum atrial septal defect, Recurrent upper respiratory tract infec... OMIM:614868
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale, P... OMIM:300707
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Neonat... OMIM:608013
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... OMIM:607721
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Optic atrophy, Ataxia ORPHA:99014
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Prematurely aged appearance, Ventricular septal defect, Progeroid facial ap... OMIM:123700
Aceruloplasminemia
Refractory anemia, Abnormality of retinal pigmentation, Torticollis, Ataxia, Parkinsonism, Involu... ORPHA:48818
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Intention tremor OMIM:610185
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal pulmonary interstitial morphology, Hypertrophic cardiomyopathy, Pleural ef... ORPHA:330001
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathet... ORPHA:101
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Keratitis, Bronchiectasis, Macroglossia, Recurrent otit... OMIM:618523
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Splenomegaly, Congestive heart failure, Recurrent pneumonia, ... OMIM:617303
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... OMIM:618877
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Skin rash, Pneumonia, Recurrent pneumonia, Chronic oral candidiasis OMIM:300400
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:500159
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... OMIM:613280
Leber Optic Atrophy
Postural tremor, Ataxia, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atro... OMIM:535000
Hajdu-Cheney Syndrome
Hepatomegaly, Ventricular septal defect, Mitral stenosis, Splenomegaly, Patent ductus arteriosus,... ORPHA:955
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-like lysosomal... OMIM:208085
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Splenomegaly, Erythema, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Ac... OMIM:225750
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Pneumonia, Asth... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Pneumonia, Asth... ORPHA:353277
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Telangiectasia OMIM:608799
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... OMIM:261640
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls OMIM:616719
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Megalencephaly
Atrial septal defect ORPHA:2477
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Cyanosis, Abnormal mucociliary clearance, Splenomegaly, Jaundice, Dysp... ORPHA:90051
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Hypoxemia, Hypertension, Stroke OMIM:603903
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Mosaic Variegated Aneuploidy Syndrome 1
Atrial septal defect, Pulmonic stenosis OMIM:257300
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Endocardial fibroelastosis OMIM:276822
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... ORPHA:329224
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Frontometaphyseal Dysplasia 2
Bicuspid aortic valve, Patent ductus arteriosus, Stridor, Pulmonic stenosis, Patent foramen ovale OMIM:617137
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension ORPHA:401923
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve OMIM:300997
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Respiratory distress OMIM:619383
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Coarctation of aorta, Normochromic anemia, Neutropenia, Atrial septal d... OMIM:614857
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Tularemia
Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis media, Cough... ORPHA:3392
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Clonus, Spastic tetraparesis, Macular coloboma, Babinski si... ORPHA:423479
Lymphatic Malformation 7
Respiratory distress, Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pl... OMIM:617300
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Subvalvular aortic stenosis OMIM:600430
Nipah Virus Disease
Respiratory distress, Hypotension, Cough ORPHA:99825
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Patent ductus arteriosus, Ventricular septal defect, Exocrine pancreatic insuff... ORPHA:452
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... OMIM:619725
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Splenomegaly, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:115150
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Dilated cardiomyopathy, Normochro... OMIM:610198
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary insufficiency, Tracheomalacia, Respiratory insufficiency OMIM:245650
Autism Spectrum Disorder Due To Auts2 Deficiency
Atrial septal defect, Abnormal heart morphology ORPHA:352490
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Wheezing, Bronchiectasis, Recurrent pneumonia, ... OMIM:300755
Robinow Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At... ORPHA:97360
Aase-Smith Syndrome I
Death in infancy, Ventricular septal defect OMIM:147800
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Ventilato... ORPHA:254864
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Recur... ORPHA:436159
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Fusariosis
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Productive cough, Keratitis, ... ORPHA:228119
Okamoto Syndrome
Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology, Primum atrial septal... ORPHA:2729
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Chromosome 5Q12 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:615668
4H Leukodystrophy
Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormalit... ORPHA:289494
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia ORPHA:70594
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Rubinstein-Taybi Syndrome 1
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse,... OMIM:180849
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot ORPHA:3186
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... ORPHA:70578
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress OMIM:615042
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Persistent left super... OMIM:618494
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Myocarditis, Abnormal pulmonary interstitial morp... ORPHA:221
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Flexion contracture, Hepatosplenomegaly, Respir... ORPHA:2590
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Patent ductus arteriosus, Cardiomyopathy, Ab... OMIM:217980
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Death in infancy, Pericardial effusion, Multiple muscular ventricular septal defects, Atrial sept... OMIM:620070
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve OMIM:617450
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Cardiomegaly, Hepatosplenomegaly, Atr... ORPHA:79330
Charge Syndrome
Lymphopenia, Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Patent d... OMIM:214800
Esophageal Atresia
Respiratory distress, Cyanosis, Ventricular septal defect, Episodic respiratory distress, Chronic... ORPHA:1199
Al Amyloidosis
Hepatomegaly, Nonproductive cough, Abnormal cardiac ventricle morphology, Dyspnea, Abnormal pulmo... ORPHA:85443
Fucosidosis
Hepatomegaly, Acrocyanosis, Vascular skin abnormality, Cardiomegaly ORPHA:349
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dystonia, Spasticity OMIM:607694
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Patent duc... OMIM:614576
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Inte... OMIM:615952
Woods Syndrome
Ventricular septal defect OMIM:615236
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO, Fo... ORPHA:747
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Death in childhood, Cher... OMIM:268800
Costello Syndrome
Ventricular septal defect, Tracheomalacia, Pneumothorax, Respiratory insufficiency, Mitral valve ... OMIM:218040
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... ORPHA:268261
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Ventricular septal defect OMIM:602501
Neonatal Alloimmune Neutropenia
Pneumonia ORPHA:464370
Dyskeratosis Congenita, Autosomal Dominant 1
Dyspnea, Interstitial pneumonitis, Pulmonary fibrosis OMIM:127550
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Immunodeficiency 32B
Recurrent respiratory infections, Hepatomegaly, Sinusitis, Pneumonia, Splenomegaly, Bronchiectasis OMIM:226990
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Patent foramen ovale OMIM:616867
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Inflamm... OMIM:618108
Colchicine Poisoning
Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Cardiorespiratory arres... ORPHA:31824
Succinic Acidemia
Respiratory distress OMIM:600335
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Vascular ring OMIM:603387
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect, Respiratory distress OMIM:610536
Mend Syndrome
Aortic valve stenosis OMIM:300960
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent duct... ORPHA:505248
Congenital Enterovirus Infection
Respiratory distress, Pericardial effusion, Myocarditis, Cardiomyopathy, Hypotension, Pleural eff... ORPHA:292
Melioidosis
Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Osteoarthritis, Hepatit... ORPHA:31202
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis, Epididymitis,... ORPHA:183675
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Bicuspid aortic valve, Ventricular septal defect, Apnea, Breathing dysregulation... ORPHA:438213
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... ORPHA:1727
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly OMIM:614741
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect OMIM:301039
20P12.3 Microdeletion Syndrome
Atrial septal defect ORPHA:261295
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Anemia ORPHA:1842
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia, R... OMIM:617710
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Splenom... OMIM:615512
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... OMIM:617751
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Tracheomalacia, Intraventricular hemorrhage, Ab... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Tracheomalacia, Intraventricular hemorrhage, Ab... ORPHA:363958
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect ORPHA:466926
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Patent ductus arteriosus after birth at term, Pulmonic stenosis ORPHA:529962
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Macular purpura, Acrocyanosis, Internal hemorrhage ORPHA:49566
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ... OMIM:614878
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Subcutaneous lipoma, Subvalvular aortic stenosis, Atrial septal defect... OMIM:613001
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Noonan Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Chylothorax, Pulmonic ... OMIM:163950
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Arterial tortuosity, Pneumothorax, Mitral valve prolapse, Ascending tubula... OMIM:614816
Immunodeficiency 77
Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess OMIM:619223
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Eczema OMIM:617241
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve OMIM:619721
Dyskeratosis Congenita, Autosomal Dominant 3
Decreased DLCO, Pulmonary fibrosis OMIM:613990
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Pulmonic stenosis OMIM:601321
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough OMIM:615434
Breath-Holding Spells
Cyanosis OMIM:607578
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Death in infancy, Neonatal respiratory distress, Apnea, Cardiomegaly, Antenatal int... OMIM:608836
Acrocardiofacial Syndrome
Death in infancy, Ventricular septal defect, Mitral stenosis, Coarctation of aorta, Atrial septal... ORPHA:2008
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Hepatospl... OMIM:209950
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Grange Syndrome
Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,... OMIM:602531
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619909
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Hypercapnia, Reduced forced vital capacity,... OMIM:164310
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait OMIM:616795
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Optic atrophy, Myoc... ORPHA:442835
Odontochondrodysplasia
Respiratory distress, Death in infancy, Patent ductus arteriosus ORPHA:166272
Diabetic Embryopathy
Ventricular septal defect, Abnormality of the pancreas, Tetralogy of Fallot, Abnormal aortic morp... ORPHA:1926
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Afibrinogenemia, Congenital
Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Subdural hemorrhage, Death in adol... OMIM:202400
Mgat2-Cdg
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphol... ORPHA:79329
Prune Belly Syndrome
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:2970
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Dyskeratosis Congenita, Autosomal Recessive 1
Pulmonary fibrosis OMIM:224230
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Hermansky-Pudlak Syndrome
Dyspnea, Epistaxis, Pulmonary fibrosis, Cardiomyopathy ORPHA:79430
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral re... ORPHA:363700
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hepatomegaly, Stroke, Cerebral ischemia ORPHA:927
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pleural effusion, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch OMIM:614846
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ... OMIM:617013
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly... OMIM:616651
Tetrasomy 5P
Respiratory distress, Cyanosis, Congestive heart failure, Heart murmur, Pulmonary arterial hypert... ORPHA:3309
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... OMIM:615207
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... OMIM:121050
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale OMIM:616854
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect ORPHA:1035
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Death in infancy, Cyanosis, Apnea, Splenomegaly, Concentric hypertrophic cardiomyop... OMIM:252010
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Cyanosis, Transient ischemic attack, Medial calcif... ORPHA:51608
Degcags Syndrome
Hepatomegaly, Tachycardia, Ventricular septal defect, Pneumonia, Tracheomalacia, Asthma, Patent d... OMIM:619488
Spinocerebellar Ataxia Type 21
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... ORPHA:98773
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... OMIM:610168
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Osteoarthritis, Abnormal pulmonary interstitial... ORPHA:77259
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... OMIM:618280
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Atrophic gastritis, Pneumonia, Erythema nodosum, Splenomegaly, ... OMIM:614700
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Hypersegmentation of neutrophil nuclei, Macrocytic anemia, Dysmetria OMIM:615578
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction... ORPHA:268
Developmental And Epileptic Encephalopathy 18
Atrial septal defect OMIM:615476
Lujo Hemorrhagic Fever
Shock, Respiratory distress, Crackles, Myocarditis, Nonproductive cough, Subconjunctival hemorrha... ORPHA:319213
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Death in infancy, Giant cell hepatitis, Ventricular septal defect, Jaundice, Choles... OMIM:613404
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Tremor, Babinski sign, Slurred speech, Optic atrophy, Clumsiness, Poor fine motor... ORPHA:137898
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect OMIM:608572
17Q12 Microduplication Syndrome
Atrial septal defect ORPHA:261272
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... OMIM:619608
Malaria
Respiratory distress ORPHA:673
Legius Syndrome
Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse ORPHA:137605
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Erythema, Vasculitis, Urticaria, Acrocyanosis, Purpura ORPHA:343
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Respiratory distress ORPHA:990
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Cyanosis, Atrial fibrillation, Congestive heart failur... ORPHA:31826
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Cardiomyopathy, Death in infancy OMIM:618839
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Neonatal deat... OMIM:616482
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Secundum atrial s... OMIM:616268
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis m... ORPHA:169160
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Cocaine Intoxication
Prolonged QT interval, Respiratory distress, Tachycardia, Aortic dissection, Prolonged QRS comple... ORPHA:90068
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Macroglossia, Chronic bronchitis OMIM:242860
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Inhalational Anthrax
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension ORPHA:247257
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... ORPHA:662
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph... OMIM:128100
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Zechi-Ceide Syndrome
Atrial septal defect, Abnormal heart morphology ORPHA:217017
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Hypertonia, Myoclonus, Inte... OMIM:616505
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... OMIM:169400
White Forelock With Malformations
Atrial septal defect ORPHA:2475
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... OMIM:616652
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi... OMIM:614114
Keutel Syndrome
Pulmonary artery stenosis, Ventricular septal defect, Calcification of cartilage ORPHA:85202
Meckel Syndrome, Type 4
Atrial septal defect, Bile duct proliferation, Ventricular septal defect OMIM:611134
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Respiratory distress, Sudden cardiac death, Erythema, Restrictive ve... ORPHA:537
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Splenomegaly, Dyspnea, Abnormal cardiomyocyte morphology, Cardiomy... ORPHA:565612
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent upper respiratory tract infections, Pneumonia, Chronic bronchitis OMIM:614069
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Abnormal mesentery morphology, Ventricular septal defect ORPHA:2256
Bacterial Toxic-Shock Syndrome
Shock, Respiratory distress, Tachycardia, Sinusitis, Pneumonia, Myocarditis, Tachypnea, Capillary... ORPHA:36234
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale OMIM:615156
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy, Hypertrophic cardiomyopathy OMIM:618835
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... ORPHA:137914
Filippi Syndrome
Ventricular septal defect OMIM:272440
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:618950
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... OMIM:612562
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... ORPHA:330021
Joubert Syndrome 18
Intrahepatic biliary atresia, Ventricular septal defect OMIM:614815
Syndromic Diarrhea
Hepatomegaly, Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Incr... ORPHA:84064
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:618870
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in infancy, Ventricular septal defect, Death in childhood OMIM:616901
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Gastritis, Glomerulonephritis, Splenomegaly, Hepatitis, Uveitis, Thyroiditis, Arthr... ORPHA:3261
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Diamond-Blackfan Anemia 11
Bicuspid aortic valve, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia OMIM:614900
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale OMIM:610883
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Multiple joint contractu... ORPHA:70
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Diamond-Blackfan Anemia 10
Respiratory distress, Patent ductus arteriosus, Ventricular septal defect OMIM:613309
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure, Cardiomegaly OMIM:619259
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Perimembranous ventricular septal defect ORPHA:83617
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Bone marrow hypocellularity, Neutropenia, Atrial septal defect, Patent... OMIM:609053
Pelizaeus-Merzbacher Disease
Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm... OMIM:312080
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Transposition of the great arteries, Neonatal death, Atrioventricular canal defect,... OMIM:314390
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesi... OMIM:614381
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect OMIM:301030
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect ORPHA:521308
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive heart failure, Cardiomy... ORPHA:465508
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:617159
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Abnormal internal carotid artery morphology, Renovascular hypertensio... ORPHA:97685
Nocardiosis
Respiratory distress, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysema, Infectious e... ORPHA:31204
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:529665
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Hepatomegaly, Apnea, Splenomegaly, Abnormal pulmonary interstit... OMIM:617050
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Patent foramen ovale ORPHA:88630
Sarcoidosis
Hepatomegaly, Maculopapular exanthema, Facial palsy, Abnormal pleura morphology, Erythema nodosum... ORPHA:797
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Optic atrophy, Fo... ORPHA:52368
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Pentalogy Of Cantrell
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Polysplenia, Atri... ORPHA:1335
Wolfram Syndrome 1
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Optic atrophy, Pigmentary retinopathy... OMIM:222300
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect OMIM:218350
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal intrahepatic bile duct morpho... ORPHA:485405
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... OMIM:618775
Poems Syndrome
Pericardial effusion, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory d... ORPHA:2905
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... OMIM:137440
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect OMIM:617516
Fanconi Anemia, Complementation Group B
Death in infancy, Aplastic anemia, Ventricular septal defect, Patent ductus arteriosus, Coarctati... OMIM:300514
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Bradycardia, Prolonged neonatal jaundice ORPHA:226313
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Atrioventricular block, Bradycardia OMIM:614407
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Cerebral calcification, Ventricular septal defect, Patent ductus arteriosus, Coronary artery fist... OMIM:620024
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia OMIM:619980
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Chime Syndrome
Ventricular septal defect, Erythema, Tetralogy of Fallot, Transposition of the great arteries, Pu... ORPHA:3474
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Patent ductus arteriosus, Recurrent pneumonia, Patent foramen ovale OMIM:607143
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block OMIM:160900
Kawasaki Disease
Pericarditis, Skin rash, Abnormal heart valve morphology, Recurrent pharyngitis, Myocarditis, Hep... ORPHA:2331
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta ORPHA:2876
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Cough, Dyspnea, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephr... ORPHA:139402
Spinocerebellar Ataxia Type 27
Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia ORPHA:98764
Tetanus
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia ORPHA:3299
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect ORPHA:500533
Thanatophoric Dysplasia
Atrial septal defect, Patent ductus arteriosus ORPHA:2655
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect OMIM:611087
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Thanatophoric Dysplasia Type 2
Atrial septal defect, Patent ductus arteriosus ORPHA:93274
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Limb ataxia, Gait ataxia, Truncal ataxia, Oculomotor apraxia OMIM:208920
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Coffin-Siris Syndrome 6
Atrial septal defect OMIM:617808
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Tachycardia, Intermittent hyperventilation, Episodic tachypne... ORPHA:348
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Cardiac conduction abnormality, Aspiration, Cardiomyopathy, Abnormal... ORPHA:2131
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia, Abnormal heart morphology ORPHA:79264
Cantú Syndrome
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Ataxia, Dysmetria, Titubation OMIM:619405
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... OMIM:194050
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cholestasis, Hepatic fibrosis OMIM:615630
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Tarp Syndrome
Cyanosis, Apnea, Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava ORPHA:2886
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve OMIM:619641
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect, Death in childhood OMIM:612938
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:457279
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Lymphatic Malformation 13
Patent ductus arteriosus, Mitral regurgitation, Neonatal death, Atrial septal defect, Pulmonary a... OMIM:620244
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:615879
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism ORPHA:178509
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Bradycardia, Stroke-like episode OMIM:619272
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery hypoplasia, Ventricular septal d... OMIM:300963
Lujan-Fryns Syndrome
Atrial septal defect ORPHA:776
Listeriosis
Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Myocarditis, Jaundice, Congestive hea... ORPHA:533
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, P... OMIM:612582
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Hyposegmentation of neutrophil nuclei, Patent foramen ovale OMIM:620075
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... OMIM:211530
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Isolated Klippel-Feil Syndrome
Ventricular septal defect ORPHA:2345
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Pulmonary fibrosis OMIM:612199
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Respiratory fai... OMIM:620278
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... OMIM:243150
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Transient ischemic attack, Myocardial infarction, Jaundice, Stroke, Prolong... OMIM:274150
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Cholelithiasis, Double outlet right ventricle, Patent ductus arteriosus OMIM:614886
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Recurrent skin infections, Eczema, Splenomegaly, Bronchioliti... OMIM:619802
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, Mitral valve prolapse OMIM:615539
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:220500
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebral calcification, Cerebral hemorrhage, Secundum atrial septal defect, Patent ... OMIM:617397
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:620327
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia OMIM:618060
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Down Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... OMIM:190685
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Immunodeficiency 58
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Eczema, Allergic rhiniti... OMIM:618131
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:98914
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:590
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Patent ductus arteriosus, Myeloid leukemia, Aortic root aneurysm ORPHA:404443
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:457193
Amyloidosis, Hereditary, Transthyretin-Related
Stroke-like episode, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardio... OMIM:105210
Hemorrhagic Fever-Renal Syndrome
Shock, Respiratory distress, Tachycardia, Epistaxis, Pneumonia, Hematemesis, Dyspnea, Capillary l... ORPHA:340
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Pyoderma, Emphysema, ... OMIM:242700
Kapur-Toriello Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect OMIM:145420
Graft Versus Host Disease
Skeletal muscle atrophy, Myositis, Dupuytren contracture, Fasciitis, Maculopapular exanthema, Pne... ORPHA:39812
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ... ORPHA:79282
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus a... OMIM:277380
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Stevenson-Carey Syndrome
Atrial septal defect, Left superior vena cava draining to coronary sinus OMIM:611961
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal ... ORPHA:228308
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... OMIM:264480
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Apnea OMIM:261680
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect OMIM:617452
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Babinski sign, Abnormal p... OMIM:234200
3Q29 Microdeletion Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:65286
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ... ORPHA:79280
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Trisomy 13
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:3378
Wolcott-Rallison Syndrome
Hepatomegaly, Jaundice, Iron deficiency anemia, Abnormality of the liver, Lymphocytosis, Neutrope... ORPHA:1667
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:615583
Seckel Syndrome 9
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect OMIM:616777
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Rhinitis, Periodontitis... ORPHA:486
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Hepatomegaly, Apnea, Patent ductus arteriosus, Coarctation of aorta, Interr... ORPHA:17
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration OMIM:620011
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, ... ORPHA:509
Squalene Synthase Deficiency
Cutaneous photosensitivity, Bicuspid aortic valve OMIM:618156
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Death in infancy, Respiratory distress OMIM:300219
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect OMIM:619115
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Thoracic aortic aneurysm, Repeated pneumothoraces, Respiratory insufficienc... ORPHA:536467
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste... OMIM:235730
Pseudo-Torch Syndrome 1
Hepatomegaly, Cerebral calcification, Splenomegaly, Patent ductus arteriosus, Jaundice, Patent fo... OMIM:251290
Joubert Syndrome 3
Atrial septal defect OMIM:608629
Fanconi Anemia, Complementation Group N
Aplastic anemia, Ventricular septal defect OMIM:610832
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Recurrent upper ... OMIM:616100
Immunodeficiency 40
Respiratory tract infection, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral candidia... OMIM:616433
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough ORPHA:142
Donnai-Barrow Syndrome
Ventricular septal defect ORPHA:2143
Congenital Fiber-Type Disproportion Myopathy
Flexion contracture, Knee flexion contracture, Aspiration pneumonia, Foot dorsiflexor weakness, H... ORPHA:2020
Brucellosis
Bronchitis, Knee osteoarthritis, Infectious encephalitis, Hepatomegaly, Epididymitis, Pneumonia, ... ORPHA:1304
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Splenomegaly, Patent duct... OMIM:312870
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... ORPHA:240071
Brachytelephalangic Chondrodysplasia Punctata
Laryngeal calcification, Ventricular septal defect, Calcaneal epiphyseal stippling, Patent ductus... ORPHA:79345
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617061
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Psoriasiform dermatitis, Eczema, Erythroderma, Thyroiditis, Hep... OMIM:606367
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Atrial septal defect, Dilation of Virchow-Robin spaces, Bicuspid aortic valve OMIM:619720
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:505237
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... OMIM:175050
Primary Hyperoxaluria
Cutis marmorata, Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermitten... ORPHA:416
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Periventricular Nodular Heterotopia 7
Ventricular septal defect OMIM:617201
Kapur-Toriello Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:244300
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Episodic re... ORPHA:255210
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
20Q13.33 Microdeletion Syndrome
Atrial septal defect, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Dilation of... ORPHA:261311
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Optic... OMIM:614298
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Dyspnea, Pulmonary artery stenosis, Coarctation... ORPHA:261494
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Cor pulmonale, Chronic mucocutaneous candidiasis, Keratoconjuncti... OMIM:158310
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology ORPHA:261197
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly ORPHA:289916
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Otit... ORPHA:1572
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect OMIM:614526
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic mucocutaneous c... ORPHA:911
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Dyspnea, Dilated cardiomyopathy, Erythema, Mitral ... ORPHA:2556
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Cardiomyopathy, Patent ductus arteriosus, Patent foramen ovale OMIM:616866
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:369891
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Death in infancy, Patent ductus arteriosus ORPHA:1790
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Hepatomegaly, Jaundice, Respiratory distress OMIM:231680
Microsporidiosis
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Bronchitis, Pneumonia, Keratitis, Lymphadenitis,... ORPHA:2552
8P11.2 Deletion Syndrome
Hemolytic anemia, Splenomegaly, Patent ductus arteriosus, Spherocytosis, Mitral valve prolapse, A... ORPHA:251066
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Atrial septal defect OMIM:618109
Myopathy With Extrapyramidal Signs
Splenomegaly, Hepatomegaly, Leukocytosis, Ventricular septal defect OMIM:615673
King-Denborough Syndrome
Ventricular septal defect OMIM:619542
Mosaic Trisomy 16
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Abnormal heart morphol... ORPHA:1708
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:270450
Alazami Syndrome
Atrial septal defect ORPHA:319671
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve OMIM:616367
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Aortic root aneurysm, Atrial septal defec... ORPHA:230851
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Bronchitis, Lymphocytic interstitial pneu... ORPHA:289390
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Vascular dilatation OMIM:219730
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Patent foramen ovale OMIM:614961
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Recombinant 8 Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def... ORPHA:96167
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Patent ductus arteriosus, Respiratory distress OMIM:300968
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Myositis, Psoriasiform dermatitis, Osteom... ORPHA:37042
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta OMIM:617602
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus... ORPHA:99776
Ramos-Arroyo Syndrome
Atrial septal defect, Patent ductus arteriosus, Respiratory distress ORPHA:1051
Postinfectious Vasculitis
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Pneumonia, Raynaud phenomenon, Cardiomyop... ORPHA:48435
Peters Plus Syndrome
Patent ductus arteriosus, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Abnormal ... ORPHA:709
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect OMIM:309520
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Pneumonia, Splenomegaly, Myopathy, Chronic otitis media ORPHA:169090
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:168600
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Arterial rupture, Mitra... ORPHA:287
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Cholestasis, Reduced number of intrahepatic bile ducts, ... ORPHA:52
Distal Triplication 15Q
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology ORPHA:314588
Mckusick-Kaufman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... ORPHA:2473
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... ORPHA:2209
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Aortic root aneurysm, Atrial septal d... OMIM:245600
Mitochondrial Complex I Deficiency, Nuclear Type 33
Respiratory insufficiency, Apnea, Bronchiectasis, Aspiration pneumonia OMIM:618253
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus OMIM:619143
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Apnea, Coarctation of aorta, Abnormal aortic morphology, Subvalvular aortic... ORPHA:1052
X Small Rings
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm ORPHA:96201
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia ORPHA:1908
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis OMIM:619652
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
19P13.12 Microdeletion Syndrome
Atrial septal defect, Hepatic steatosis, Ventricular septal defect ORPHA:254346
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Shashi-Pena Syndrome
Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces OMIM:617190
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Hypotension, Inspiratory stridor ORPHA:100050
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Anemia, Strok... ORPHA:2637
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ... ORPHA:261552
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Dysosteosclerosis
Cerebral calcification, Ventricular septal defect ORPHA:1782
O'Sullivan-Mcleod Syndrome
Tremor, Eosinophilia, Fasciculations ORPHA:99965
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Codas Syndrome
Extrahepatic biliary duct atresia, Ventricular septal defect ORPHA:1458
Buratti-Harel Syndrome
Atrial septal defect, Dilation of Virchow-Robin spaces OMIM:619314
Cooper-Jabs Syndrome
Ventricular septal defect ORPHA:1488
Aicardi-Goutières Syndrome
Cutis marmorata, Cardiomegaly, Raynaud phenomenon, Calcification of the aorta, Hepatosplenomegaly... ORPHA:51
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmonary artery sling, Abnormal hear... ORPHA:261537
Bdv Syndrome
Atrial septal defect OMIM:619326
Migraine, Familial Hemiplegic, 2
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Omenn Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Thyroiditis, Erythroderma ORPHA:39041
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Spasticity OMIM:616586
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
Sotos Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Prolonge... OMIM:117550
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Atrial septal defect, Patent ductus arteriosus, Neutropenia OMIM:618005
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Ataxia, Tremor, Myoclonus, Right hemiplegia, Rod-cone dystrophy, Anemia OMIM:607426
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect ORPHA:79243
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Fanconi Anemia, Complementation Group Q
Biliary atresia, Bone marrow hypocellularity, Primum atrial septal defect OMIM:615272
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Atrial septal defect, Patent ductus arteriosus, Hepatosplenomegaly ORPHA:397709
Tuberous Sclerosis Complex
Respiratory distress, Cardiac rhabdomyoma, Aortic aneurysm, Hypertension, Respiratory failure, Ge... ORPHA:805
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:77298
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Abnormal mitral valve morphology ORPHA:1292
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Pulmonary artery atresia OMIM:620113
Dravet Syndrome
Cyanotic episode ORPHA:33069
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Hepatomegaly, Neonatal respiratory distress, Respiratory distress OMIM:260400
Fanconi Anemia, Complementation Group F
Patent ductus arteriosus, Anemia, Leukopenia, Bone marrow hypocellularity, Atrial septal defect, ... OMIM:603467
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Patent duct... ORPHA:96191
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Hepatitis, Abnormal pulmonary interstitial morphology, Chronic... ORPHA:227990
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Coronary artery fistula, Abnormal car... OMIM:614294
Diamond-Blackfan Anemia
Acute myeloid leukemia, Radial artery aplasia, Ventricular septal defect, Pure red cell aplasia, ... ORPHA:124
Fucosidosis
Hepatomegaly, Angiokeratoma, Cardiomegaly, Splenomegaly, Cherry red spot of the macula, Bruising ... OMIM:230000
Al Kaissi Syndrome
Atrial septal defect OMIM:617694
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Tay-Sachs Disease
Exaggerated startle response, Incoordination, Dystonia, Tremor, Optic atrophy, Dysmetria, Clumsin... ORPHA:845
Heart And Brain Malformation Syndrome
Ventricular septal defect, Interrupted aortic arch OMIM:616920
Infantile Krabbe Disease
Abnormal heart rate variability, Cherry red spot of the macula, Respiratory failure, Respiratory ... ORPHA:206436
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic l... OMIM:235255
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Holt-Oram Syndrome
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... OMIM:142900
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Recurre... OMIM:252500
Mowat-Wilson Syndrome
Bicuspid aortic valve, Pulmonary artery sling, Patent ductus arteriosus, Abnormal heart morpholog... ORPHA:2152
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Hepatomegaly, Skin rash, Pneumonia, Cough, Recurrent cutaneo... ORPHA:276
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Interstitial pneumonitis ORPHA:231154
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Limb ataxia, Truncal ataxia OMIM:617101
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Ascending tubular ao... ORPHA:453499
Tarp Syndrome
Atrial septal defect, Tetralogy of Fallot, Subdural hemorrhage, Neonatal death OMIM:311900
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Coarctation of aorta,... OMIM:617088
Pallister-Killian Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Stillbirth, Aortic val... OMIM:601803
Lateral Meningocele Syndrome
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm OMIM:130720
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Noonan Syndrome 13
Atrial septal defect, Mitral valve prolapse OMIM:619087
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia ORPHA:240094
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Ataxia, Abnormal dense granules, Tremor, Thrombocytope... OMIM:214500
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Mucosal telangiectasiae, Cardiomegaly ORPHA:2463
Thanatophoric Dysplasia Type 1
Atrial septal defect, Patent ductus arteriosus ORPHA:1860
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Perit... ORPHA:1546
Gitelman Syndrome
Prolonged QT interval, Respiratory distress, Pericardial effusion, Raynaud phenomenon, Low-to-nor... ORPHA:358
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Iridocyclitis, Hepatitis, Abnormal pulmonary interstitial morphology, Chronic... ORPHA:227982
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect ORPHA:3078
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Medial calcification of large arteries, Autoimmune thrombocytopenia,... ORPHA:391487
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch,... OMIM:300712
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopenia, Tremor, ... OMIM:613179
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage ORPHA:369929
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Prominent scalp veins, Increased subcutaneous truncal adipos... ORPHA:3455
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Atrial septal defect, Pulmonary artery stenosis, Dilation of Virchow-Robin spaces, Ventricular se... OMIM:300998
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect ORPHA:1770
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616449
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Splenomegal... ORPHA:354
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Chops Syndrome
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous ret... OMIM:616368
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Ventricular septal defect OMIM:617360
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot... OMIM:192430
Fetal Alcohol Syndrome
Atrial septal defect ORPHA:1915
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... OMIM:235510
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Dyskeratosis Congenita, X-Linked
Restrictive ventilatory defect, Conjunctivitis, Pulmonary fibrosis, Blepharitis OMIM:305000
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Patent ductus arteriosus, Patent foramen ovale, Abnormal heart morphology ORPHA:177907
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect OMIM:608688
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Stridor, Respirat... ORPHA:79404
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign... ORPHA:99027
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Death in infancy, Bicuspid aortic valve, Mitral atresia, Tachypnea, Aortic valve atresia, Coarcta... OMIM:220111
19P13.3 Microduplication Syndrome
Ventricular septal defect ORPHA:447980
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:615530
Myasthenia Gravis
Raynaud phenomenon, Dyspnea, Acrocyanosis ORPHA:589
Alpha-Mannosidosis, Adult Form
Macroglossia, Pneumonia, Hepatosplenomegaly ORPHA:309288
Ogden Syndrome
Pulmonary artery stenosis, Ventricular septal defect ORPHA:276432
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis OMIM:614749
Hand-Foot-Genital Syndrome
Miscarriage, Ventricular septal defect ORPHA:2438
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Jaundice, Congestive heart failure OMIM:617156
Distal Xq28 Microduplication Syndrome
Patent ductus arteriosus, Patent foramen ovale ORPHA:293939
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Intrac... ORPHA:163979
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Respiratory distress, Ventricular septal defect, Complete atrioventr... ORPHA:508488
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Stt3B-Cdg
Respiratory distress ORPHA:370924
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia ORPHA:204
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Ventricular septal defect, Patent ductus arteriosus, Doubl... ORPHA:163956
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:261279
Intellectual Disability-Strabismus Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:363528
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Coccidioidomycosis
Respiratory distress, Pericarditis, Pneumonia, Vasculitis, Vasospasm, Cerebral ischemia, Pleural ... ORPHA:228123
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Stridor OMIM:615595
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth OMIM:151210
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Congestive heart failure, Recurrent pneumonia OMIM:616271
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect OMIM:620194
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Peripheral pulmonary artery stenosis ORPHA:436003
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thrombocytopenia, Persi... OMIM:617052
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Patent foramen ovale ORPHA:542306
Moebius Syndrome
Respiratory distress OMIM:157900
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261236
Zellweger Syndrome
Hepatomegaly, Death in infancy, Ventricular septal defect, Jaundice, Epiphyseal stippling ORPHA:912
Loeys-Dietz Syndrome 5
Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec... OMIM:615582
Friedreich Ataxia 2
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... OMIM:601992
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Zaki Syndrome
Patent ductus arteriosus, Patent foramen ovale OMIM:619648
Hyperoxaluria, Primary, Type I
Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventr... OMIM:259900
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect OMIM:620242
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chronic oral candidiasis, Chr... ORPHA:83471
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, Patent ductus ... OMIM:620005
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Patent foramen ovale OMIM:619184
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Atrioventricular block, Upper airway obstruction, Reduc... ORPHA:581
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Death in infancy, Hepatomegaly, Ventricular septal defect, Splen... OMIM:614866
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Patent ductus arteriosus, Ventricular septal defect OMIM:300472
7Q31 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus after birth at term ORPHA:251061
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Hypertension, Decreased sensitivity to hypoxemia, Acrocyanosis OMIM:223900
Opitz Gbbb Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Persistent left s... ORPHA:2745
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Distal Duplication 5Q
Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia ORPHA:96097
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect OMIM:620183
Thakker-Donnai Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries ORPHA:1780
Fg Syndrome Type 1
Atrial septal defect, Coarctation of aorta, Mitral valve prolapse ORPHA:93932
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect ORPHA:2728
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Ventricular septal defect OMIM:106260
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Marfan Syndrome
Reduced subcutaneous adipose tissue, Aortic regurgitation, Pulmonary artery dilatation, Tricuspid... OMIM:154700
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Hepatomegaly, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hype... OMIM:610505
Cystic Fibrosis
Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu... OMIM:219700
Primary Fanconi Renotubular Syndrome
Pulmonary fibrosis ORPHA:3337
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect ORPHA:93947
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Otitis media OMIM:602450
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Trisomy 1Q
Patent ductus arteriosus, Ventricular septal defect ORPHA:261344
Wiedemann-Steiner Syndrome
Atrial septal defect, Patent ductus arteriosus OMIM:605130
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Apnea, Bradycardia, Cardiomegaly ORPHA:97297
Peters-Plus Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:261540
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Respiratory insufficiency, Enlarged kidney OMIM:608022
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Hypertrophic cardiomyopathy OMIM:619121
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Hepatomegaly ORPHA:329178
Lymphedema-Distichiasis Syndrome
Varicose veins, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:153400
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect ORPHA:166035
Vici Syndrome
Lymphopenia, Dilated cardiomyopathy, Decreased proportion of CD4-positive helper T cells, Cardiom... OMIM:242840
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus OMIM:609625
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Ventricular septal defect, Eosinophilia, Pancreatic cysts, Thrombocytopenia, Pa... OMIM:274000
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... OMIM:249420
Farber Disease
Respiratory distress, CNS foam cells, Respiratory insufficiency, Hepatosplenomegaly, Cherry red s... ORPHA:333
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Splenomegaly... OMIM:102700
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent ... OMIM:601495
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... OMIM:619573
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary windo... OMIM:620025
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Poor wound healing, Cerebral hemorrhage, Subdural hemorrhage... ORPHA:536545
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Ventricular septal defect OMIM:611812
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Aortic aneurysm ORPHA:261330
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ataxia, Head ... OMIM:606002
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent upper respiratory... OMIM:600802
Bohring-Opitz Syndrome
Atrial septal defect, Ventricular septal defect, Hyperechogenic pancreas OMIM:605039
Shigellosis
Pneumonia, Myocarditis, Peritonitis, Rhabdomyolysis, Uveitis, Ulcerative colitis, Arthritis, Conj... ORPHA:810
Short Stature-Micrognathia Syndrome
Ventricular septal defect OMIM:617164
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Cardiomyopathy, Skin rash, Pneumonia, Weakness of facial musculature ORPHA:247691
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali... ORPHA:73263
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Atrial septal defect, Prominent superficial veins, Death in ... OMIM:612289
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... OMIM:619268
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Lethal Kniest-Like Dysplasia
Atrial septal defect ORPHA:2347
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp... OMIM:611962
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Leukemia, Dilation of Virchow-Robin spaces OMIM:619951
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Patent ductus arteriosus, Annular pancreas OMIM:618162
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Thrombocytopenia ORPHA:457351
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Patent ductus arterios... OMIM:164280
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Death in infancy, Peripheral pulmonary artery stenosis, Hypoplasia of the thymu... OMIM:613177
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Thrombocytopenia, Increased mean corpuscular v... ORPHA:261250
White-Sutton Syndrome
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:616364
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hypertension ORPHA:1555
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve ORPHA:96169
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Periportal fibro... OMIM:269860
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Ventricular septal defect, Pulmonary artery stenosis, Transposition of the great ar... OMIM:280000
Joubert Syndrome 14
Intracranial hemorrhage, Ventricular septal defect OMIM:614424
Knobloch Syndrome 2
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology OMIM:618458
Oculoectodermal Syndrome
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:600268
Ataxia-Telangiectasia
Ataxia, Tremor, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia, Dysdiadochokinesi... OMIM:208900
Omenn Syndrome
Splenomegaly, Hepatomegaly, Pneumonia, Erythroderma OMIM:603554
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
C Syndrome
Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect OMIM:211750
Plague
Respiratory distress, Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Endocarditis, Acute i... ORPHA:707
19Q13.11 Microdeletion Syndrome
Ventricular septal defect ORPHA:217346
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... OMIM:301043
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Pancreatic lymphangiectasis, Splenomegaly, Pulmonary lym... ORPHA:1655
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, Cough,... OMIM:619991
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Cholelithiasis, Ventricular septal defect, Left superior vena cava draining... ORPHA:464738
Lymphatic Malformation 6
Atrial septal defect, Varicose veins, Intestinal lymphangiectasia, Splenomegaly OMIM:616843
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Reticulocytopenia, Anemia, Bone marrow hypocellularity, ... OMIM:227645
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect OMIM:615503
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:244450
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Pericardial effusion, Splenom... OMIM:615846
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Progeroid facial appearance, Cardiomegaly, Splenomegaly, Congestive heart failure, ... OMIM:256040
Autosomal Recessive Robinow Syndrome
Death in infancy, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aortic... ORPHA:1507
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Flexion contracture, Aspiration pneumonia ORPHA:35069
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve OMIM:618529
Kikuchi-Fujimoto Disease
Hepatomegaly, Skin rash, Pustule, Myocarditis, Splenomegaly, Abnormal pulmonary interstitial morp... ORPHA:50918
Alagille Syndrome 1
Ventricular septal defect, Hepatocellular carcinoma, Cholestasis, Coarctation of aorta, Reduced n... OMIM:118450
Abetalipoproteinemia
Hepatomegaly, Respiratory failure, Congestive heart failure, Cardiomegaly ORPHA:14
Juvenile Polyposis Of Infancy
Refractory anemia, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect, Anemia ORPHA:79076
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Distal Deletion 10Q
Atrial septal defect, Patent ductus arteriosus ORPHA:96148
Ellis-Van Creveld Syndrome
Atrial septal defect, Common atrium OMIM:225500
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Atrial septal defect OMIM:614207
Beare-Stevenson Cutis Gyrata Syndrome
Palmoplantar cutis laxa, Hypertension, Respiratory distress OMIM:123790
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Ventricular septal defect, Microvesicular hepatic steatosis, Sple... OMIM:619418
Coffin-Siris Syndrome
Ventricular septal defect, Hepatoblastoma, Patent ductus arteriosus, Abnormal heart morphology, A... ORPHA:1465
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Pneumonia, Splenomegaly, Flexion contracture, Recurrent upper respiratory tract inf... OMIM:253200
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Exertional dyspnea... OMIM:233450
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale OMIM:619179
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Abnormal heart morphology, Stridor, T... OMIM:114290
3Mc Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:257920
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Facial palsy, Respira... ORPHA:79138
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect OMIM:619758
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Ventricular septal defect OMIM:619306
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood OMIM:613848
21Q22.11Q22.12 Microdeletion Syndrome
Atrial septal defect, Thrombocytopenia, Anemia ORPHA:261323
Duane-Radial Ray Syndrome
Atrial septal defect, Ventricular septal defect, Vascular dilatation OMIM:607323
Neurocardiofaciodigital Syndrome
Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Patent ductus arteriosus OMIM:619869
Pancreatic And Cerebellar Agenesis
Death in infancy, Secundum atrial septal defect, Pancreatic hypoplasia, Anemia, Pancreatic aplasia OMIM:609069
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspi... OMIM:613355
Codas Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect OMIM:600373
Achondroplasia
Respiratory distress, Death in infancy, Upper airway obstruction OMIM:100800
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect OMIM:612530
Hamamy Syndrome
Atrial septal defect, Complete atrioventricular canal defect, Hypochromic anemia, Microcytic anemia OMIM:611174
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Patent ductus arteriosus, Stroke, Enlarged kidney OMIM:618188
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Apnea, Ascending aorta hypoplasia, Facial erythema, Aspiration, Neonatal respiratory distress, Po... OMIM:619503
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Restrictive ventilatory defect, Rheumatoid arthritis... OMIM:607944
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect OMIM:207410
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Patent ductus arteriosu... OMIM:214100
Robinow Syndrome, Autosomal Dominant 3
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Pulmonary artery at... OMIM:616894
Mosaic Trisomy 1
Pulmonary artery atresia, Hepatic agenesis, Ventricular septal defect, Coarctation of aorta ORPHA:1692
Spondyloocular Syndrome
Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve OMIM:605822
Alg12-Cdg
Muscular ventricular septal defect, Patent ductus arteriosus, Biventricular hypertrophy, B lympho... ORPHA:79324
Marfan Syndrome
Mitral valve calcification, Descending aortic dissection, Dilatation of an abdominal artery, Mitr... ORPHA:558
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Chronic Visceral Acid Sphingomyelinase Deficiency
Respiratory failure requiring assisted ventilation, Hepatomegaly, Abnormal heart valve morphology... ORPHA:77293
3Q29 Microduplication Syndrome
Ventricular septal defect ORPHA:251038
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Hepatitis, Hypoplasia of the thymus, Ecto... ORPHA:436252
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia, Camptodactyly OMIM:258865
Bloom Syndrome
Skin rash, Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Che... ORPHA:125
Sweeney-Cox Syndrome
Asplenia, Patent ductus arteriosus, Patent foramen ovale OMIM:617746
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Patent ductus arteriosus, Anemia, Leukopenia, Abnorma... ORPHA:84
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormality of the tonsils, Retin... ORPHA:567
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Patent foramen ovale, Perip... ORPHA:280633
De Barsy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on ... ORPHA:2962
Lead Poisoning
Imbalanced hemoglobin synthesis, Poor gross motor coordination, Abnormal T cell morphology, Poor ... ORPHA:330015
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Spastic paraplegia, Optic atrophy, Abnormal hemoglobin, Anemia ORPHA:847
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Erythroid hypoplasia, Thrombocytopenia, Anemia OMIM:620072
Chromosome 14Q11-Q22 Deletion Syndrome
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale OMIM:613457
Donnai-Barrow Syndrome
Ventricular septal defect OMIM:222448
Khan-Khan-Katsanis Syndrome
Patent ductus arteriosus after premature birth, Bilateral superior vena cava with no bridging vei... OMIM:618460
Fibrochondrogenesis 1
Stillbirth, Patent foramen ovale OMIM:228520
Jacobsen Syndrome
Atrial septal defect, Annular pancreas, Ventricular septal defect, Thrombocytopenia OMIM:147791
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Sinusitis, Pneumonia, Facial palsy, Respiratory tract infection, Pustule, In... ORPHA:68
Genitopatellar Syndrome
Atrial septal defect ORPHA:85201
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia, Hepatomegaly OMIM:617809
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Restrictive cardiomyopathy, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:369837
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Acrocyanosis, Tachycardia ORPHA:1764
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Cohen Syndrome
Neutropenia, Ventricular septal defect, Mitral valve prolapse ORPHA:193
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney OMIM:130650
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Coarctation of aorta ORPHA:268249
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Pancreatic fibrosis, Ventricular septal defect, Hepatic fibrosis OMIM:263520
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Patent ductus arteriosus OMIM:614080
Cerebrocostomandibular Syndrome
Death in infancy, Cerebral calcification, Ventricular septal defect ORPHA:1393
Orofaciodigital Syndrome V
Tetralogy of Fallot, Ventricular septal defect OMIM:174300
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ... ORPHA:466791
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect, Aortic root aneurysm OMIM:618891
Chronic Graft Versus Host Disease
Fasciitis, Dyspnea, Wheezing, Pneumothorax, Urinary bladder inflammation, Bronchiectasis, Flexion... ORPHA:99921
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Splenomegaly, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia OMIM:230900
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:251014
Mucolipidosis Type Ii
Abnormal mitral valve morphology, Splenomegaly, Hepatosplenomegaly, Cardiomyopathy, Abnormal aort... ORPHA:576
Meier-Gorlin Syndrome 7
Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect, Meconium... OMIM:617063
Rabson-Mendenhall Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:769
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:352665
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab... ORPHA:2968
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai... OMIM:613658
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:1519
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Coarctation of aorta OMIM:618454
Renal Agenesis
Ventricular septal defect ORPHA:411709
Lateral Meningocele Syndrome
Ventricular septal defect ORPHA:2789
Bardet-Biedl Syndrome 20
Atrial septal defect, Pancreatitis OMIM:619471
Proximal Renal Tubular Acidosis
Hypovolemia, Subvalvular aortic stenosis ORPHA:47159
Hypothyroidism, Congenital, Nongoitrous, 5
Patent foramen ovale OMIM:225250
Larsen Syndrome
Atrial septal defect, Ventricular septal defect, Aortic aneurysm OMIM:150250
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect OMIM:617798
Phelan-Mcdermid Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:606232
Auriculocondylar Syndrome
Respiratory distress, Vein of Galen aneurysmal malformation ORPHA:137888
Cranioectodermal Dysplasia 2
Hepatomegaly, Cholangitis, Splenomegaly, Patent ductus arteriosus, Biliary cirrhosis, Cholestasis... OMIM:613610
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Mitral valve calcification, Elevated hemoglobin A1c, Macrovesicular hepatic steatos... OMIM:619127
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... OMIM:157800
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrial septal defect, Atrioventricular canal defect, Patent ductus arteriosus, Ventricular septal... ORPHA:3047
Hennekam-Beemer Syndrome
Camptodactyly of finger, Pneumonia, Respiratory insufficiency ORPHA:2135
Pallister-Hall Syndrome
Neonatal death, Patent ductus arteriosus, Ventricular septal defect, Preductal coarctation of the... OMIM:146510
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,... ORPHA:3472
Japanese Encephalitis
Respiratory distress, Respiratory paralysis, Abnormal pattern of respiration, Irregular respiration ORPHA:79139
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Respiratory tract infection, Dyspnea, Myocarditis, Pleural empyema, Septic arthritis, ... ORPHA:544482
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm, Ventricular septal defect, Mitral valve prolapse ORPHA:444072
Den Hoed-De Boer-Voisin Syndrome
Ventricular septal defect, Death in adolescence OMIM:619229
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m... ORPHA:500095
Ring Chromosome 12 Syndrome
Secundum atrial septal defect ORPHA:1439
Gm1 Gangliosidosis Type 1
Macroglossia, Cardiomyopathy, Aspiration pneumonia, Hepatosplenomegaly ORPHA:79255
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Hepatomegaly OMIM:251110
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Thauvin-Robinet-Faivre Syndrome
Varicose veins, Transient neutropenia, Ventricular septal defect, Mitral valve prolapse OMIM:617107
Marshall-Smith Syndrome
Ventricular septal defect, Patent ductus arteriosus, Death in childhood, Atrial septal defect, Dy... OMIM:602535
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... OMIM:614748
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Abnormality of the spleen, Truncus arteriosus, Hepatomegaly ORPHA:2538
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Skeletal muscle atrophy, Hepatomegaly, Limb joint contracture, Seborrheic dermatitis, Splenomegal... OMIM:301072
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Ventricular septal defect OMIM:178110
Distal Deletion 6P
Atrial septal defect ORPHA:96125
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Trisomy 18
Atrial septal defect, Ventricular septal defect ORPHA:3380
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Recurrent skin infections, Gastritis, Splenomega... OMIM:619381
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration... ORPHA:1018
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect OMIM:212066
Fryns Syndrome
Ectopic pancreatic tissue, Ventricular septal defect, Stillbirth, Polysplenia, Atrial septal defect OMIM:229850
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:300373
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Recurrent pancre... OMIM:618268
Shwachman-Diamond Syndrome
Hepatomegaly, Sinusitis, Skin rash, Pneumonia, Eczema, Osteomyelitis, Abnormal heart morphology ORPHA:811
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hepatomegaly, Pleural effusion OMIM:620369
Cutis Laxa, Autosomal Recessive, Type Iid
Atrial septal defect, Ascending tubular aorta aneurysm, Hypertrophic cardiomyopathy, Hypoplastic ... OMIM:617403
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Kasabach-Merritt Syndrome
Respiratory distress, Abnormal lymphatic vessel morphology, Hypopnea, Petechiae, Purpura ORPHA:2330
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Hepatomegaly, Jaundice, Prolonged neonatal jaundice OMIM:256810
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Hepatomegaly, Microvesicular hepatic steatosis, Patent ductus arteriosus, Cirrh... OMIM:300868
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... OMIM:619534
Simpson-Golabi-Behmel Syndrome
Death in infancy, Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Splenomegaly, Cardiomy... ORPHA:373
Gabriele-De Vries Syndrome
Patent foramen ovale, Aortopulmonary collateral arteries OMIM:617557
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Abnormal heart morphology ORPHA:798
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Hepatomegaly OMIM:251100
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect ORPHA:1724
Omodysplasia 1
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Cerebrocostomandibular Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Calcaneal epiphyseal s... OMIM:117650
Oligomeganephronia
Secundum atrial septal defect, Pulmonary venous occlusion ORPHA:2260
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis ORPHA:454831
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hepatomegaly, Decreased muscle mass, Recurrent aspiration pneumonia ORPHA:73230
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve OMIM:271640
Bent Bone Dysplasia Syndrome 2
Atrial septal defect, Hepatomegaly OMIM:620076
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Ventricular septal defect, Muscular ventricular septal defect, Coarctation of a... OMIM:210710
Leigh Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Anemia, Neutropenia ORPHA:506
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect ORPHA:251028
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Limb Body Wall Complex
Ventricular septal defect, Abnormal heart morphology, Abnormality of the liver, Atrial septal def... ORPHA:2369
Opitz Gbbb Syndrome
Ventricular septal defect OMIM:300000
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Death in childhood, Atrial septal defect, Tetr... OMIM:309500
Magel2-Related Prader-Willi-Like Syndrome
Atrial septal defect ORPHA:398069
Smith-Lemli-Opitz Syndrome
Death in infancy, Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus... OMIM:270400
Cutis Laxa, Autosomal Recessive, Type Iic
Prominent superficial veins, Mitral valve prolapse, Biventricular hypertrophy, Atrial septal defe... OMIM:617402
Focal Dermal Hypoplasia
Patent ductus arteriosus, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:2092
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect OMIM:614653
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Emphysema OMIM:224690
Cornelia De Lange Syndrome 1
Ventricular septal defect, Pneumonia, Congenital diaphragmatic hernia, Elbow flexion contracture,... OMIM:122470
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Holoprosencephaly
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormality of the spleen, Abnorm... ORPHA:2162
Goldberg-Shprintzen Syndrome
Ventricular septal defect OMIM:609460
Alpha-Mannosidosis, Infantile Form
Facial hypotonia, Pneumonia, Hepatosplenomegaly, Macroglossia, Myopathy, Otitis media ORPHA:309282
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:619575
Ulnar-Mammary Syndrome
Ventricular septal defect ORPHA:3138
Trichothiodystrophy
Ventricular septal defect, Increased mean corpuscular hemoglobin concentration, Cardiomyopathy, N... ORPHA:33364
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Atrial septal defect ORPHA:522077
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... OMIM:607872
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect OMIM:616546
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Atrial septal defect, Patent ductus arteriosus OMIM:213980
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:613458
Neu-Laxova Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Stillbirth, Transposition of the great arter... OMIM:256520
Pitt-Hopkins Syndrome
Acrocyanosis, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus, Respiratory distress ORPHA:480880
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest ORPHA:293987
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Abnormal lung morphology, Urin... ORPHA:449395
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Elliptocytosis, Patent ductus arteriosus, Patent foramen ovale, Anemia OMIM:300990
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Annular pancreas OMIM:616975
Oculodentodigital Dysplasia
Atrial septal defect, Basal ganglia calcification OMIM:164200
Zttk Syndrome
Atrial septal defect, Absent gallbladder, Patent ductus arteriosus, Ventricular septal defect OMIM:617140
Wolf-Hirschhorn Syndrome
Abnormal heart valve morphology, Abnormality of the gallbladder, Abnormal cardiac septum morpholo... ORPHA:280
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Skin rash, Pneumonia, Enlarged polycystic ovaries, Osteoarthritis, Nephritis ORPHA:2298
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Recurrent aspiration pneumonia, Camptodactyly, Abnormal heart morp... OMIM:247200
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Biliary cirrhosis, Coarctation ... ORPHA:99413
Mosaic Monosomy X
Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Biliary cirrhosis, Coarctation ... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Biliary cirrhosis, Coarctation ... ORPHA:99226
Turner Syndrome
Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Biliary cirrhosis, Coarctation ... ORPHA:881
Neurooculorenal Syndrome
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro... OMIM:620305
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Atrial septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Ventricula... ORPHA:459070
Diets-Jongmans Syndrome
Interrupted inferior vena cava with azygous continuation, Ventricular septal defect OMIM:618846
Turnpenny-Fry Syndrome
Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect, ... OMIM:618371
Microphthalmia, Syndromic 3
Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormality of the gallbladder, Atrial septa... ORPHA:818
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Hepatomegaly, Dilation of Virchow-Robin spaces OMIM:615273
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles OMIM:305100
Cholera
Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect OMIM:301044
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Aplasia of the thymus, Prolonged neonatal jaundice, Atrial septal defect, Patent foramen ovale, R... OMIM:620186
Oculodentodigital Dysplasia
Cerebral calcification, Ventricular septal defect ORPHA:2710
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Atrial septal defect, Dilation of Virchow-Robin spaces OMIM:619512
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Miscarriage, Ventricular septal defect, Hepatoblastoma, Pulmonary artery stenosis, ... ORPHA:96334
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Secundum atrial septal defect, Subarterial ventricular septal defect, Recur... ORPHA:99646
Marden-Walker Syndrome
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th... ORPHA:2461
Doors Syndrome
Respiratory distress, Double outlet right ventricle, Aspiration pneumonia ORPHA:79500
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Hypermobile Ehlers-Danlos Syndrome
Apnea, Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection, Arrhythmia, A... ORPHA:285
Restrictive Dermopathy 1
Atrial septal defect, Patent ductus arteriosus, Stillbirth, Neonatal death OMIM:275210
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Aortic root aneur... ORPHA:444077
Digeorge Syndrome
Hepatic steatosis, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenom... OMIM:188400
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Ventricular septal defect, Microcytic anemia, Thrombocytopenia, Splenomegaly, Incre... OMIM:619525
Adnp Syndrome
Respiratory distress, Aspiration ORPHA:404448
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Mirage Syndrome
Aspiration pneumonia OMIM:617053
Distal 22Q11.2 Microduplication Syndrome
Patent ductus arteriosus, Ventricular septal defect, Tricuspid valve prolapse ORPHA:261337
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Patent foramen ovale, Arteria lusoria OMIM:618653
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia ORPHA:90790
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale OMIM:613884
Helsmoortel-Van Der Aa Syndrome
Atrial septal defect, Mitral valve prolapse, Abnormal heart morphology OMIM:615873
Restrictive Dermopathy
Dextrocardia, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Transposition of the gr... ORPHA:1662
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki... ORPHA:116
Distal Deletion 12Q
Patent ductus arteriosus, Biliary atresia, Congenital hypertrophy of left ventricle, Annular panc... ORPHA:96149
Schinzel-Giedion Midface Retraction Syndrome
Atrial septal defect, Splenopancreatic fusion, Hepatoblastoma OMIM:269150
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Acrofacial Dysostosis 1, Nager Type
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:154400
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Kabuki Syndrome 1
Hemolytic anemia, Ventricular septal defect, Autoimmune thrombocytopenia, Coarctation of aorta, A... OMIM:147920
Hydrolethalus Syndrome 1
Accessory spleen, Complete atrioventricular canal defect, Stillbirth, Ventricular septal defect OMIM:236680
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:102500
Orofaciodigital Syndrome Xiv
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615948
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Leukemia ORPHA:2526
Diphallia
Atrial septal defect, Abnormal heart morphology ORPHA:227
Ctcf-Related Neurodevelopmental Disorder
Atrial septal defect, Patent ductus arteriosus, Prolonged neonatal jaundice, Coarctation of aorta ORPHA:363611
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Atrial septal defect, Total anomalous pulmonary venous return OMIM:609945
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Atrial septal defect, Tricuspid valve prolapse, Mitral valve prolapse OMIM:601776
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... ORPHA:95455
Poland Syndrome
Atrial septal defect, Abnormality of the liver, Dextrocardia, Acute leukemia ORPHA:2911
Cranioectodermal Dysplasia 1
Hepatomegaly, Bicuspid aortic valve, Malformation of the hepatic ductal plate, Hepatic fibrosis, ... OMIM:218330
Penile Agenesis
Atrial septal defect, Ventricular septal defect ORPHA:49
Carpenter Syndrome 2
Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri... OMIM:614976
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
45,X/46,Xy Mixed Gonadal Dysgenesis
Bicuspid aortic valve, Coarctation of aorta ORPHA:1772
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia, Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Vater/Vacterl Association
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr... OMIM:192350
Tetrasomy 9P
Absent gallbladder, Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Jaundice, B... ORPHA:3310
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Ventricular septal hypertrophy OMIM:608670
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ventricular septal defect, Bicuspid aortic valve, Jaundice, Dilatation of the cerebral artery, He... OMIM:619475
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Neuroleptic Malignant Syndrome
Rhabdomyolysis, Aspiration pneumonia, Pulmonary embolism ORPHA:94093
Faciocardiomelic Syndrome
Common atrium OMIM:612731
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis OMIM:250220
Johanson-Blizzard Syndrome
Hepatomegaly, Ventricular septal defect, Portal hypertension, Situs inversus totalis, Intrahepati... OMIM:243800
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Osteoporosis-Pseudoglioma Syndrome
Retinal calcification, Ventricular septal defect OMIM:259770
Floating-Harbor Syndrome
Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left supe... ORPHA:2044
Semilobar Holoprosencephaly
Central apnea, Flexion contracture, Abnormal heart morphology, Aspiration pneumonia, Abnormal pat... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Flexion contracture, Abnormal heart morphology, Aspiration pneumonia, Abnormal pat... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Flexion contracture, Abnormal heart morphology, Aspiration pneumonia, Abnormal pat... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Flexion contracture, Abnormal heart morphology, Aspiration pneumonia, Abnormal pat... ORPHA:93924
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Niemann-Pick Disease Type C
Hepatomegaly, Splenomegaly, Abnormal lung morphology, Aplasia/Hypoplasia of the abdominal wall mu... ORPHA:646
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Transient ischemic attack, Patent ductus arteriosus after birth at term, Abno... ORPHA:500150
Wolf-Hirschhorn Syndrome
Atrial septal defect, Ventricular septal defect, Biliary tract abnormality, Accessory spleen OMIM:194190
Townes-Brocks Syndrome
Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology... ORPHA:857
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect ORPHA:513456
Coffin-Siris Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:135900
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring ORPHA:466943
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Patent foramen ovale ORPHA:477993
Early Infantile Epileptic Encephalopathy
Ventricular septal defect ORPHA:1934
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Patent ductus arteriosus, Biliary tract abnormality,... OMIM:268300
Alström Syndrome
Respiratory distress, Hepatomegaly, Dorsocervical fat pad, Portal hypertension, Splenomegaly, Con... ORPHA:64
Coffin-Lowry Syndrome
Mitral regurgitation, Acrocyanosis, Cutis marmorata OMIM:303600
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619522
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Ventricular septal defect ORPHA:434179
Pmm2-Cdg
Respiratory distress, Pericarditis, Angina pectoris, Pericardial effusion, Abnormal subcutaneous ... ORPHA:79318
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect OMIM:300896
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... ORPHA:672
Isolated Arrhinia
Respiratory distress ORPHA:1134
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea ORPHA:3206
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Pneumonia, Secundum atrial septal defect, Flexion contracture, ... OMIM:264090
Trichorhinophalangeal Syndrome, Type Ii
Internal carotid artery dissection, Bicuspid aortic valve, Cerebral arteriovenous malformation, P... OMIM:150230
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Atrial septal defect, Death in infancy, Neonatal death, Death in childhood OMIM:308205
Proboscis Lateralis
Patent ductus arteriosus, Ventricular septal defect ORPHA:141099
Otopalatodigital Syndrome, Type Ii
Atrial septal defect, Stillbirth, Dilatation of the sinus of Valsalva OMIM:304120
Sotos Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Acute lymphoblast... ORPHA:821
Townes-Brocks Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:107480
Genitopatellar Syndrome
Atrial septal defect, Ventricular septal defect OMIM:606170
Cornelia De Lange Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:199
Ulnar-Mammary Syndrome
Ventricular septal defect OMIM:181450
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect OMIM:620330
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax ORPHA:3404
Craniofacial Microsomia 1
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Right aortic arch, Tet... OMIM:164210
Yunis-Varon Syndrome
Cardiomyopathy, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale OMIM:216340
Microphthalmia, Syndromic 1
Bicuspid aortic valve OMIM:309800
Oculomotor-Abducens Synkinesis
OMIM:619215

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ackr3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ackr3.

No publications found that use IMPC mice or data for Ackr3.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ackr3tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ackr3tm2b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Ackr3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ackr3tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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