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Gene: Ackr3 MGI:109562

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Gene Summary

Name:
atypical chemokine receptor 3
Synonyms:
Cxcr7,  Rdc1,  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
decreased total retina thickness Ackr3tm2b(EUCOMM)Wtsi HET   Early adult 2.16×10-05
tremors Ackr3tm2b(EUCOMM)Wtsi HET   Early adult 7.93×10-05
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
increased mean corpuscular hemoglobin concentration Ackr3tm2b(EUCOMM)Wtsi HET Early adult 1.60×10-05

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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3
Reduced forced vital capacity, Usual interstitial pneumonia, Pulmonary fibrosis, Reduced forced e... OMIM:616373
Optic Atrophy 2
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4
Honeycomb lung, Reduced forced vital capacity, Cough, Pulmonary fibrosis, Reduced forced expirato... OMIM:616371
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... OMIM:614980
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Exertional dyspnea, Bronchiectasis, Honeycomb lung, R... ORPHA:2032
Coronary Arterial Fistula
Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitations, Patent ... ORPHA:2041
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... ORPHA:3092
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Ethanolaminosis
Cardiomegaly, Death in infancy OMIM:227150
Aortic Valve Disease 1
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... OMIM:109730
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... ORPHA:75566
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation OMIM:615377
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Partial Atrioventricular Septal Defect
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... ORPHA:1330
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Congenital Gerbode Defect
Systolic heart murmur, Crackles, Palpitations, Elevated right atrial pressure, Tricuspid regurgit... ORPHA:99095
Atrial Septal Defect 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... OMIM:607941
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe... OMIM:178500
Aorta Coarctation
Patent ductus arteriosus, Aortic valve atresia, Pulmonary arterial hypertension, Perimembranous v... ORPHA:1457
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency, Pulmonary fibrosis, Recurrent respiratory infections ORPHA:2111
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Cyanosis, Splenomegaly, Chylopericardium, Chronic pulmonary obst... ORPHA:2414
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:249670
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricu... ORPHA:860
Cardiac Valvular Dysplasia 2
Subvalvular aortic stenosis, Systolic heart murmur, Ascending tubular aorta aneurysm, Pulmonary i... OMIM:620067
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis, Lymphocytic interstitial pneumonia OMIM:247610
Congenital Aortic Valve Stenosis
Endocarditis, Aortic valve atresia, Sudden cardiac death, Abnormal T-wave, Increased QRS voltage,... ORPHA:3093
Criss-Cross Heart
Respiratory insufficiency, Cyanosis, Ventricular septal defect, Abnormal mitral valve morphology,... ORPHA:1461
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Tricuspid Atresia
Cyanosis, Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, A... ORPHA:1209
Aortic Valve Disease 3
Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Pulmonary Hemosiderosis
Respiratory insufficiency, Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage OMIM:178550
Aortic Valve Disease 2
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Aortic aneurysm, Calcification of... OMIM:614823
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit... OMIM:616201
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor OMIM:160120
Polyvalvular Heart Disease Syndrome
Mitral valve prolapse, Abnormal heart valve morphology, Arrhythmia, Aortic valve stenosis, Pulmon... ORPHA:228410
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated cardiomyopathy, Left ventr... OMIM:613642
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia, Weakness of facial musculature, Angulated muscle fibers, Scapular winging, ... OMIM:619477
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Pulmonary insufficiency, Death in infancy, Hepatomegaly, Pulmonic ste... OMIM:619433
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, T-wave al... OMIM:618782
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... OMIM:613953
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Tremor, Hereditary Essential, 6
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... ORPHA:85451
Isolated Right Ventricular Hypoplasia
Cyanosis, Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart mu... ORPHA:439
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Asthma, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:614262
Cardiomyopathy, Dilated, 2D
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... OMIM:619371
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis med... OMIM:618254
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Left ventricular outflow tract obstruction, Right aortic arch, Hyp... OMIM:613854
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... OMIM:604765
Cardiomyopathy, Dilated, 1S
Pulmonary arterial hypertension, Sudden cardiac death, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Nephronophthisis 16
Patent ductus arteriosus, Enlarged kidney, Hypertrophic cardiomyopathy, Situs inversus totalis, A... OMIM:615382
Chronic Beryllium Disease
Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system... ORPHA:133
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Pulmonary artery ... OMIM:185500
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... OMIM:612387
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology ORPHA:2868
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Familial Aortic Dissection
Patent ductus arteriosus, Aortic root aneurysm, Exertional dyspnea, Coronary artery atheroscleros... ORPHA:229
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve stenosis, Aortic valve calcification OMIM:114065
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis ORPHA:2871
Asbestos Intoxication
Myocardial fibrosis, Oxygen desaturation on exertion, Pleural thickening, Decreased DLCO, Nonprod... ORPHA:2302
Interstitial Lung Disease 1
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... OMIM:619611
Laubry-Pezzi Syndrome
Patent ductus arteriosus, Patent foramen ovale, Elevated pulmonary artery pressure, Right ventric... ORPHA:99094
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Cyanosis, Atrial septal defect, Tetralog... ORPHA:3304
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decreased DLCO,... OMIM:610913
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis, Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnorm... ORPHA:216694
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... OMIM:620135
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect ORPHA:251076
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... OMIM:610921
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Abnormal left ventricular outflow tract morphology, ... ORPHA:402075
Tremor, Hereditary Essential, 1
Hand tremor, Action tremor, Postural tremor OMIM:190300
Atrial Fibrillation, Familial, 10
Left ventricular hypertrophy, Left atrial enlargement, Right ventricular dilatation, Stroke OMIM:614022
Cardiac Diverticulum
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... ORPHA:1686
Megabladder, Congenital
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... OMIM:618719
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Obstructive sleep apnea OMIM:607016
Aortic Arch Interruption
Cyanosis, Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary windo... ORPHA:2299
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Dyspnea,... OMIM:610476
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Calcification of the aorta, Pancytopenia, Hepatomegaly, Cardiomega... OMIM:231005
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Bronchioli... ORPHA:1303
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Palmoplantar cutis laxa, Pulmonic stenosis, Atrial septal defect OMIM:618499
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Craniofaciofrontodigital Syndrome
Palmoplantar cutis laxa, Abnormal cerebral vascular morphology, Pericardial effusion, Persistent ... ORPHA:363705
Ciliary Dyskinesia, Primary, 23
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615451
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy, Low-output congestive heart failure, Respiratory distress ORPHA:91130
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Axial muscle atrophy, Limb-girdle muscle weakness, Exertional dyspnea, Calf muscle hypertrophy, A... ORPHA:254361
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
B lymphocytopenia, Absent circulating B cells, Hypertrophic cardiomyopathy, Decreased proportion ... OMIM:619705
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Atrial Septal Defect 1
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... OMIM:108800
Ciliary Dyskinesia, Primary, 9
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni... OMIM:612444
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Bronchiectasis, Pericardial effusion, Subpleural honeycombing,... ORPHA:79126
Cardiomyopathy, Familial Hypertrophic, 15
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... OMIM:613255
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal pleura morphology, Abnormal breath sound, Myocardial fibrosis, Crackles, Restrictive ven... ORPHA:210136
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... OMIM:618780
Ciliary Dyskinesia, Primary, 3
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Situs ... OMIM:608644
Familial Atrial Myxoma
Bacterial endocarditis, Vascular dilatation, Exertional dyspnea, Pulmonic valve myxoma, Heart mur... ORPHA:615
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Death in infancy, Abnormality of the... ORPHA:1354
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Double Outlet Right Ventricle
Cyanosis, Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart mur... ORPHA:3426
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... OMIM:220210
Congenital Tricuspid Valve Dysplasia
Cyanosis, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Tricuspid regurgitation, Per... ORPHA:555874
Singleton-Merten Syndrome 2
Aortic valve stenosis, Aortic valve calcification OMIM:616298
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Enlarged kidney, Hypertrophic cardiomyopathy, Situs inversus totalis, Stillbi... OMIM:615415
Complete Atrioventricular Septal Defect
Cyanosis, Systolic heart murmur, Crackles, Displacement of the papillary muscles, Hepatomegaly, A... ORPHA:1329
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Otitis media, Neonatal respir... OMIM:618781
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Sarcosinemia
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:3129
Truncus Arteriosus
Cyanosis, Truncus arteriosus, Tachycardia, Pulmonary artery stenosis, Ventricular septal defect, ... ORPHA:3384
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Respiratory failure, Respiratory distress, Cough, Cor pulmonale, Tachypnea OMIM:263000
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Ciliary Dyskinesia, Primary, 36, X-Linked
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Situs inversus totalis, Cough,... OMIM:300991
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Systolic heart murmur, Supraventricular arrhythmia, Palpitations, Pneumonia, Exertional... ORPHA:99104
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Ciliary Dyskinesia, Primary, 27
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... OMIM:615504
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor, Optic atrophy, Optic disc pallor OMIM:165300
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Left ventricular outflow tract obstruction, Aortopulmonary window, Abnormal aortic arch... ORPHA:99050
Congenital Alveolar Capillary Dysplasia
Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Pulmonary arter... ORPHA:210122
Scedosporiosis
Bronchitis, Septic arthritis, Endocarditis, Osteomyelitis, Pleural empyema, Pleuritis, Abnormal r... ORPHA:449280
Bronchopulmonary Dysplasia
Hyperoxemia, Tracheobronchomalacia, Abnormal respiratory system physiology, Respiratory distress,... ORPHA:70589
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Atrial ... OMIM:601927
Ciliary Dyskinesia, Primary, 7
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Recurrent... OMIM:611884
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Systolic heart murmur, Pulmonary artery dilatation, Airway obstruction, Palpitations, A... ORPHA:99106
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation OMIM:615616
Young Syndrome
Recurrent bronchitis, Recurrent sinopulmonary infections, Bronchiectasis, Congenital pulmonary ai... OMIM:279000
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Systolic heart murmur, Supraventricular arrhythmia, Breathing dysregulation, Abnormal l... ORPHA:99103
Von Willebrand Disease, Type 1
Mitral valve prolapse, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhage, Gastroint... OMIM:193400
Spinal Muscular Atrophy, Type I
Death in childhood, Ventricular septal defect, Atrial septal defect OMIM:253300
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements OMIM:611092
Combined Oxidative Phosphorylation Deficiency 8
Reduced left ventricular ejection fraction, Death in infancy, Congestive heart failure, Hypertrop... OMIM:614096
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Arthritis, Hemosiderin-laden ma... OMIM:616414
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Hemipl... OMIM:614561
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,... ORPHA:75249
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Mitral valve prolapse, Aortic regurgitation, Situs inversus totalis, Persis... OMIM:609008
Idiopathic Pulmonary Hemosiderosis
Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Reticular pat... ORPHA:99931
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:615067
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Congestive heart... ORPHA:324410
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Ciliary Dyskinesia, Primary, 21
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurren... OMIM:615294
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Acquired Von Willebrand Syndrome
Hypotension, Subcutaneous hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis... ORPHA:99147
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Nodular pattern on pulmonary HRCT, Cough ORPHA:60026
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation OMIM:220220
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect OMIM:614432
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myofiber disarray, Restrictive cardiomyopathy, Death in infancy, Cardiogenic shock, Dilated cardi... OMIM:619424
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... ORPHA:477817
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Paroxysmal supraventricular tachycardia, Arrhythmia, Tr... OMIM:617877
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Cardiac Valvular Dysplasia 1
Cyanosis, Hypoplasia of right ventricle, Tricuspid regurgitation, Patent foramen ovale, Left aort... OMIM:212093
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia, Atrial septal defect OMIM:614868
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Situs inversus ... OMIM:620032
Lessel-Kreienkamp Syndrome
Patent ductus arteriosus, Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Abno... OMIM:619149
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... ORPHA:217563
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Noonan Syndrome 8
Patent ductus arteriosus, Palmoplantar cutis laxa, Ventricular septal defect, Left ventricular hy... OMIM:615355
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Common atrium, Aortopulmonary collateral arter... OMIM:208530
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia ORPHA:3347
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Hepatic bridging fibrosis, L... OMIM:613759
Riddle Syndrome
Pulmonary fibrosis OMIM:611943
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... OMIM:612422
Arterial Calcification, Generalized, Of Infancy, 2
Arterial calcification, Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogeni... OMIM:614473
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... OMIM:612877
Tremor, Hereditary Essential, 4
Action tremor, Postural tremor OMIM:614782
Craniosynostosis 1
Aortic valve stenosis, Systolic heart murmur OMIM:123100
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Aortic Aneurysm, Familial Thoracic 4
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... OMIM:132900
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis OMIM:252605
Mungan Syndrome
Tricuspid regurgitation, Pulmonic stenosis, Perimembranous ventricular septal defect OMIM:611376
Ciliary Dyskinesia, Primary, 28
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... OMIM:615505
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Ciliary Dyskinesia, Primary, 42
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... OMIM:618695
Absence Of The Pulmonary Artery
Cyanosis, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphology, Bronchie... ORPHA:980
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:615279
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated bronchoalveolar lavage fluid neutrophil proportion, Ventricular septal defect, Asthma, H... OMIM:610978
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Gaucher Disease, Type I
Pulmonary arterial hypertension, Hypertension, Epistaxis, Mitral regurgitation, Dyspnea, Hepatome... OMIM:230800
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... ORPHA:79127
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia OMIM:300911
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chronic rhinitis, Recurrent pneumon... OMIM:616726
Alkaptonuria
Aortic valve calcification, Aortic aneurysm, Mitral valve calcification, Coronary artery calcific... OMIM:203500
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Hepatomegaly ORPHA:422
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Death in infancy, Jaundice, Epiphyseal stippling, Hepatomegaly OMIM:614876
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... OMIM:253700
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Spinocerebellar Ataxia 43
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor OMIM:617018
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Usual interstitial pneumonia, Reticular pattern on pulmonary HRCT, Crackles, Dyspnea, Cough, Pulm... OMIM:614742
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis OMIM:617175
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Chronic rhinitis, Situs inversus total... OMIM:614679
Familial Dilated Cardiomyopathy
Coronary artery atherosclerosis, Left ventricular hypertrophy, Right ventricular dilatation ORPHA:217607
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... OMIM:605407
Ciliary Dyskinesia, Primary, 24
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu... OMIM:615481
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Erysipelas, Restrictive ventilatory defect, Skeletal muscle atrophy, Pulmonary fibrosis, Joint co... OMIM:615704
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... OMIM:618052
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Respiratory distress OMIM:300580
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Tremor, Vocal cord paralysis OMIM:158580
Temple-Baraitser Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:611816
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... OMIM:260300
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... ORPHA:284169
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Ataxia, Babinski sign OMIM:611105
3-Methylglutaconic Aciduria, Type Iv
Subvalvular aortic stenosis, Biventricular hypertrophy, Neonatal respiratory distress OMIM:250951
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Atrial septal... OMIM:179613
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Le... ORPHA:444013
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Ventricular hypertrophy, Aortic atherosclerotic lesion, Premature graying o... ORPHA:363618
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect DECIPHER:39
Alkaptonuria
Atherosclerosis, Calcification of cartilage, Abnormal heart valve morphology, Coronary artery cal... ORPHA:56
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Sinusitis, Otitis media, Pneumonia OMIM:312863
Aspergillosis
Osteomyelitis, Bronchiectasis, Asthma, Hepatitis, Pleuritis, Abnormality on pulmonary function te... ORPHA:1163
Heterotaxy, Visceral, 12, Autosomal
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... OMIM:619702
White Forelock With Malformations
Prominent veins on trunk, Atrial septal defect OMIM:277740
Snijders Blok-Campeau Syndrome
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect OMIM:618205
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Mitral valve prolapse, Atrial septal defect, Dysplastic tricuspid valve... OMIM:612863
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect OMIM:619239
Scimitar Syndrome
Pneumothorax, Truncus arteriosus, Heart block, Abnormal vena cava morphology, Double outlet right... ORPHA:185
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Progeroid facial appearance, Pulmonic stenosis ORPHA:75496
Gaucher Disease Type 3
Splenomegaly, Anemia, Pericardial effusion, Abnormal heart valve morphology, Pancytopenia, Thromb... ORPHA:77261
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta OMIM:616559
Aorto-Ventricular Tunnel
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Heart murmur, Congesti... ORPHA:3400
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, In... OMIM:616053
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis OMIM:618806
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia OMIM:618425
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
3C Syndrome
Atrioventricular canal defect, Ventricular septal defect, Abnormal mitral valve morphology, Death... ORPHA:7
Congenital Tracheomalacia
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Productive cough, Pneumonia, W... ORPHA:95430
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:605321
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Cyanosis, Hepatomegaly, Right atrial ... OMIM:306955
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Congenital Laryngeal Web
Stridor, Respiratory distress, Abnormal cardiac septum morphology ORPHA:2374
Felty Syndrome
Rhinitis, Arthritis, Pleuritis, Synovitis, Recurrent pharyngitis, Pericarditis, Recurrent pneumon... ORPHA:47612
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect OMIM:615297
Familial Idiopathic Dilatation Of The Right Atrium
Pleural effusion, Palpitations, Abnormal vena cava morphology, Hepatomegaly, Tricuspid regurgitat... ORPHA:1677
Tyshchenko Syndrome
Pulmonic stenosis, Sleep apnea, Ventricular septal defect, Atrial septal defect OMIM:615102
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Respiratory insufficiency, Abnormal cardiac septum morphology, Coarctat... OMIM:601612
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Tran... OMIM:616749
Spinocerebellar Ataxia 7
Chorea, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Macular degenera... OMIM:164500
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia ORPHA:401901
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... ORPHA:57777
Ciliary Dyskinesia, Primary, 25
Chronic bronchitis, Bronchiectasis, Productive cough, Immotile cilia, Chronic pulmonary obstructi... OMIM:615482
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Systolic heart murmur, Truncus arteriosus, Ventricular septal defect, Death in infancy,... OMIM:617478
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... OMIM:613838
Idiopathic Achalasia
Bronchitis, Cough, Wheezing, Recurrent aspiration pneumonia ORPHA:930
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Pulmonary artery atresia... OMIM:618164
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements OMIM:616921
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
Rigid Spine Syndrome
Respiratory insufficiency, Hip contracture, Elbow flexion contracture, Myopathy, Skeletal muscle ... ORPHA:97244
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... OMIM:615872
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Exertional dyspnea, Reduced left ventricular ej... OMIM:608751
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Midline liver, Ventricular septal defect, Transposition of the gre... OMIM:613751
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Retinopathy, Optic atrophy, Parkinsonism, Rigidity, ... ORPHA:216873
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Foot joint contracture, Pulmonary fibrosis, Joint contracture of... ORPHA:220402
Ciliary Dyskinesia, Primary, 46
Bronchiectasis, Reduced forced vital capacity, Recurrent otitis media, Recurrent sinusitis, Recur... OMIM:619436
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Pneumothorax, Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissect... ORPHA:91387
Atrioventricular septal defect 3
Pulmonary arterial hypertension, Atrioventricular canal defect, Cyanosis, Inlet ventricular septa... OMIM:600309
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia... OMIM:604169
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Death in infancy, Perimembranous ventricular septal defect, Hepatomegal... OMIM:608104
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Patent foramen ovale, Splenomegaly, Right ventricular hypertroph... OMIM:616028
Alagille Syndrome 2
Hypertension, Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pu... OMIM:610205
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Sideroblastic anemia, Babinski sign, Hypochromic microcytic anemia, Intention... OMIM:301310
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Pulmonary artery atresia, Secundum atrial... OMIM:108900
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Bronchiectasis, Recurrent sinopulmonary infections, Ulcerative colitis, Colitis,... OMIM:618394
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Death in infancy, Bicuspid aortic valve,... OMIM:618845
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect OMIM:601322
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Lymphoid Interstitial Pneumonia
Respiratory tract infection, Subpleural interstitial thickening, Bronchiectasis, Rheumatoid arthr... ORPHA:79128
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations ORPHA:309169
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Pulmonary fibrosis OMIM:611926
Immunodeficiency 104
Eczema, Recurrent otitis media, Chronic mucocutaneous candidiasis, Otitis media, Hepatomegaly, Pn... OMIM:608971
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Geleophysic Dysplasia 2
Respiratory insufficiency, Pulmonary arterial hypertension, Mitral stenosis, Mitral valve prolaps... OMIM:614185
Ciliary Dyskinesia, Primary, 32
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu... OMIM:616481
Congenital Myopathy 8
Respiratory insufficiency, Cardiomegaly, Congestive heart failure, Reduced vital capacity OMIM:618654
Antisynthetase Syndrome
Respiratory insufficiency, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morph... ORPHA:81
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... OMIM:619657
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Legius Syndrome
Supravalvar pulmonary stenosis OMIM:611431
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Cyanosis, Pulmonary hemorrhage, Bacterial endocarditis, Telangie... ORPHA:2038
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor OMIM:612437
Ciliary Dyskinesia, Primary, 35
Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinit... OMIM:617092
Meacham Syndrome
Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Co... ORPHA:3097
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, Retinopathy, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F... ORPHA:251380
Peripartum Cardiomyopathy
Anemia, Abnormal atrioventricular valve morphology, Left ventricular hypertrophy, Dilated cardiom... ORPHA:563
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress OMIM:254120
Ciliary Dyskinesia, Primary, 26
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... OMIM:615500
Dystonia, Dopa-Responsive
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... OMIM:128230
Atrial Septal Defect, Sinus Venosus Type
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Airway obstruc... ORPHA:99105
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Resp... OMIM:616037
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy, Neonatal death, Death in infancy, Respiratory insufficiency due to m... OMIM:617184
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... ORPHA:60033
Arterial Tortuosity Syndrome
Aortic tortuosity, Ventricular hypertrophy, Aortic root aneurysm, Ischemic stroke, Hypertension, ... OMIM:208050
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Abnormal aortic arch morphol... ORPHA:2306
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Respiratory distress, Death in infancy OMIM:616974
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... OMIM:615996
Emanuel Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Recurrent sinusitis, Atr... OMIM:609029
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy OMIM:610992
Polymyositis
Respiratory insufficiency, Abnormal pulmonary interstitial morphology, Exertional dyspnea, Abnorm... ORPHA:732
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Developmental Delay, Language Impairment, And Ocular Abnormalities
Facial telangiectasia, Pulmonic stenosis OMIM:620141
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... OMIM:612098
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... ORPHA:1455
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... OMIM:607317
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary motility, Chronic otitis me... OMIM:614017
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Aortic valve stenosis, Hypoplastic left heart, Atrial septal defect OMIM:617660
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Right ventricular dilatation, Hepatomegaly ORPHA:369840
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Perimembranous ventricular septal defect, Secundum atrial septal defec... OMIM:600987
Ciliary Dyskinesia, Primary, 5
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:608647
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Primary Pulmonary Hypoplasia
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Secundum atrial septal defect, Hypoxemia, ... ORPHA:2257
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Chronic bronchitis, Bronchiectasis, Recurrent sinusitis, Chronic pulmonary obstruc... OMIM:618986
Ciliary Dyskinesia, Primary, 38
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Chronic... OMIM:618063
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Exertional dyspnea, Concentric hypertrophic cardiomyopathy, Reduced le... OMIM:613243
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Dystonia, Frequent falls OMIM:619647
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Patent ductus arteriosus, Pulmonary insufficiency, Bicuspid aortic valve, Mitral valve prolapse, ... ORPHA:555877
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Recurrent sinusitis, Bronchiectasis OMIM:618449
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Congestive heart failure, Respiratory distress, Stillbirth, Deat... OMIM:619751
Cardiomyopathy, Familial Hypertrophic, 2
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Ventricul... OMIM:115195
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Left ventricular hy... OMIM:613424
Sandestig-Stefanova Syndrome
Respiratory failure, Muscular ventricular septal defect, Perimembranous ventricular septal defect OMIM:618804
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Patent ductus arteriosus, Perimembranous ventricular septal defect, Left-to-right shunt, Atrial s... ORPHA:363444
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Hemolytic anemia, Ataxia, Spastic tetraparesis, Neutropenia, Intention tr... OMIM:266130
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Chromosome 1P36 Deletion Syndrome, Proximal
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... OMIM:619343
Congenital Disorder Of Glycosylation, Type Iie
Respiratory insufficiency, Perimembranous ventricular septal defect, Death in infancy, Secundum a... OMIM:608779
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left... ORPHA:2248
Meckel Syndrome, Type 7
Patent ductus arteriosus, Atrial septal defect, Hepatosplenomegaly, Situs inversus totalis, Aorti... OMIM:267010
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Sleep apnea, Atrial septal defect ORPHA:459061
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Baraitser-Winter Syndrome 1
Patent ductus arteriosus, Aortic valve stenosis, Bicuspid aortic valve OMIM:243310
Pleural Mesothelioma
Abnormal respiratory system physiology, Respiratory distress, Pleural effusion, Dyspnea, Cough, H... ORPHA:50251
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Chromosome 18Q Deletion Syndrome
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Absence of the pulmonary valve, Ventr... OMIM:601808
Monosomy 18Q
Patent ductus arteriosus, Absence of the pulmonary valve, Left-to-right shunt, Secundum atrial se... ORPHA:1600
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Bronchiectasis, Recurrent sinusitis, Atrial septal defect, Recurrent pneumonia, Pulmonic stenosis OMIM:618282
Timothy Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Prolonged QT interval,... OMIM:601005
Noonan Syndrome 10
Patent ductus arteriosus, Palmoplantar cutis laxa, Ventricular septal defect, Mitral stenosis, Mi... OMIM:616564
Mixed Connective Tissue Disease
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Skin rash, Arthritis... ORPHA:809
Immunodeficiency 13
Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent upper... OMIM:615518
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Hemiballismus, Frequent falls ORPHA:494526
Mucopolysaccharidosis, Type X
Aortic regurgitation, Aortic valve stenosis, Thickened aortic valve cusp, Left ventricular hypert... OMIM:619698
Niemann-Pick Disease, Type B
Abnormal pulmonary interstitial morphology, Decreased DLCO, Dyspnea, Hepatomegaly, Recurrent resp... OMIM:607616
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cyanosis, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Biven... OMIM:261740
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis, Supracardiac total anomalous pulmonary venous connection, Pulmonary artery stenosis, He... ORPHA:99125
Adams-Oliver Syndrome 1
Pulmonary arterial hypertension, Ventricular septal defect, Bicuspid aortic valve, Hypertension, ... OMIM:100300
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Death in infancy, Hepatomegaly, Cardiomegaly, Death in childhood OMIM:619064
Pitt-Hopkins-Like Syndrome 2
Hyperventilation, Pulmonic stenosis OMIM:614325
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy ORPHA:26792
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Patent ductus arteriosus, Pulmonary arterial hypertension, Bicuspid aortic valve, Hypertension, A... OMIM:613355
Meacham Syndrome
Patent ductus arteriosus, Neonatal death, Death in childhood, Ventricular septal defect, Cardiac ... OMIM:608978
Immunodeficiency 48
Pneumonia, Hepatomegaly, Eczematoid dermatitis, Recurrent respiratory infections, Splenomegaly OMIM:269840
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... OMIM:607671
Emanuel Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Co... ORPHA:96170
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Respiratory insufficiency, Truncus arteriosus, Ventricular septal defec... OMIM:601186
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Ciliary Dyskinesia, Primary, 12
Decreased nasal nitric oxide, Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, C... OMIM:612650
Sneddon Syndrome
Ischemic stroke, Cerebral hemorrhage, Bicuspid aortic valve, Hypertension, Cutis marmorata, Lived... OMIM:182410
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Diffuse Alveolar Hemorrhage
Hypoxemia, Restrictive ventilatory defect, Airway obstruction, Irregular septal thickening on pul... ORPHA:90060
Ciliary Dyskinesia, Primary, 15
Chronic bronchitis, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurrent pneumoni... OMIM:613808
Gaucher Disease
Abnormal pericardium morphology, Splenomegaly, Cirrhosis, Anemia, Cherry red spot of the macula, ... ORPHA:355
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Kagami-Ogata Syndrome
Patent ductus arteriosus, Pulmonary arterial hypertension, Splenomegaly, Ventricular septal defec... OMIM:608149
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Death in infancy, Apnea, Hypertrophic cardiomyopathy, Respiratory fail... OMIM:616277
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia OMIM:600116
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect, Arrhythmia OMIM:611553
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pulmonary fibrosis OMIM:614743
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
Intellectual Developmental Disorder, Autosomal Dominant 45
Pulmonic stenosis, Heart murmur OMIM:617600
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Hepatic fibrosis, Ventricular septal defect ORPHA:306550
Primary Dystonia, Dyt2 Type
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Involuntary movements, Gener... ORPHA:99657
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Double outlet right ventricle, Pulmonary insufficiency, Heart murmur, Dilated cardiomyo... ORPHA:2326
Cardiofaciocutaneous Syndrome 4
Abnormal aortic valve morphology, Pulmonic stenosis, Ventricular septal hypertrophy OMIM:615280
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... OMIM:613193
Immune-Mediated Necrotizing Myopathy
Abnormal pulmonary interstitial morphology, Skin rash, EMG: myopathic abnormalities, Myositis, Mu... ORPHA:206569
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Abnormal cardiac septum morphology, Coarctation of aorta, Aortic regurgitatio... ORPHA:96147
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... ORPHA:79262
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Myoclonus OMIM:159900
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... OMIM:600001
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:617044
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Arterial Calcification, Generalized, Of Infancy, 1
Carotid artery calcification, Abdominal aortic calcification, Congestive heart failure, Dilated c... OMIM:208000
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Abnormal heart morphology, Atrial septal... OMIM:614954
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Cyanosis, Exertional dyspnea, Hemothorax, Pericardial effusio... ORPHA:199241
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... ORPHA:314978
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... OMIM:613873
Fanconi Renotubular Syndrome 5
Decreased DLCO, Lung adenocarcinoma, Pulmonary fibrosis, Emphysema OMIM:618913
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Mitral valve prolapse, Short ... OMIM:314400
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Ciliary Dyskinesia, Primary, 22
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insuffici... OMIM:615444
Ciliary Dyskinesia, Primary, 11
Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Immotile cilia, Recurrent sinus... OMIM:612649
Ciliary Dyskinesia, Primary, 19
Rhinitis, Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary ... OMIM:614935
Noonan Syndrome With Multiple Lentigines
Atrioventricular canal defect, Vascular dilatation, Abnormal mitral valve morphology, Bundle bran... ORPHA:500
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Respiratory insufficiency, Dyspnea, Global systolic dysfunction, Cardiomyopathy OMIM:606842
Perching Syndrome
Cyanosis, Respiratory distress OMIM:617055
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Respiratory distress, Congestive heart failure, Apnea, Hypertrophic cardi... ORPHA:70474
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Splenomegaly, Bacterial endocarditis, Hepatic fibrosis, Anemia, Calcification of the aorta, Pancy... ORPHA:2072
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Respiratory distress, Hepatomegaly, Respiratory insufficiency due to... OMIM:613561
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Recurrent upper respir... ORPHA:922
Primary Ciliary Dyskinesia
Bronchiectasis, Productive cough, Airway obstruction, Wheezing, Double outlet right ventricle, Pe... ORPHA:244
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:1388
Leukoencephalopathy With Ataxia
Gait ataxia, Choroidal neovascularization, Limb ataxia, Retinoschisis, Action tremor, Chorioretin... OMIM:615651
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor OMIM:616291
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress ORPHA:141152
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Choreoathetosis, Reticulocytosis, Ataxia, Tremor, Dystonia, Splenomegaly OMIM:612126
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Respirato... ORPHA:45452
Neuroectodermal Melanolysosomal Disease
Spasticity, Optic atrophy, Rigidity, Aplasia/Hypoplasia of the macula, Ataxia, Tremor, Hypertonia... ORPHA:33445
Immunodeficiency 11B With Atopic Dermatitis
Bronchiectasis, Asthma, Ulcerative colitis, Colonic eosinophilia, Pneumonia, Atopic dermatitis OMIM:617638
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Crohn's disease, Perianal abscess, Eczema, Ulcerative colitis, Hepatosplenomegaly,... OMIM:618935
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Bronchiectasis, Pericardial effusion, Respiratory distress, Chronic pulmonary obstr... ORPHA:411703
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Cyanosis, Death in infancy, Apnea, Dyspnea, Respiratory failure,... OMIM:265120
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... ORPHA:98762
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Respiratory insufficiency, Ventricular septal defect, Hypoplastic left ... OMIM:616276
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433