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Gene: Matr3 MGI:1298379

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

matrin 3

Synonyms:

2810017I02Rik, D030046F20Rik, 1110061A14Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Matr3 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.

Human diseases associated with Matr3 (3 diseases)
Human diseases predicted to be associated with Matr3 (1899 diseases)

The table below shows human diseases associated to Matr3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet...	OMIM:606070
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con...	ORPHA:600
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodeg...	ORPHA:803

The table below shows human diseases predicted to be associated to Matr3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	ORPHA:228190
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	OMIM:604381
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology	ORPHA:1208
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi...	OMIM:132900
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent...	OMIM:618845
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp...	ORPHA:860
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the...	OMIM:231060
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Hand muscle weakness, ...	OMIM:302800
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:254351
Familial Infantile Bilateral Striatal Necrosis	Gait ataxia, Upper limb muscle weakness, Choreoathetosis, Hypertonia, Atrophy/Degeneration involv...	ORPHA:225154
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Decreased number of large p...	OMIM:208920
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Charcot-Marie-Tooth Disease Type 2B1	Hand muscle atrophy, Decreased motor nerve conduction velocity, Peroneal muscle atrophy, Hand mus...	ORPHA:98856
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Failure to thrive in infancy, Decreased number of large peripheral ...	ORPHA:90103
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Foot dorsiflexor weakn...	OMIM:614436
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Aortic Valve Disease 2	Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen...	OMIM:614823
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Proxima...	OMIM:604484
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Confusion, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Dement...	ORPHA:204
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Huntington Disease-Like 2	Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Weight loss, Dementia, Gait disturb...	ORPHA:98934
Inherited Creutzfeldt-Jakob Disease	Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami...	ORPHA:282166
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Periventricular Nodular Heterotopia 1	Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage	OMIM:300049
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Adams-Oliver Syndrome 4	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
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
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art...	OMIM:609192
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
22Q11.2 Duplication Syndrome	Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt...	ORPHA:1727
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Lethal Congenital Contracture Syndrome 3	Neonatal death, Respiratory insufficiency	OMIM:611369
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Frontotemporal dementia, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Dyst...	OMIM:600795
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:217085
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste...	OMIM:617478
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
Aortic Aneurysm, Familial Thoracic 12	Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic dissection, Bicuspid aor...	OMIM:619825
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis...	ORPHA:229
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Anomalous pulmonary venous return, Coarctation o...	ORPHA:1120
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased...	OMIM:214400
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:1705
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta	ORPHA:1923
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au...	OMIM:601596
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect,...	ORPHA:2847
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Axonal degeneration, Distal sensory impairment, Upper limb muscle weakness, Steppage gait, Gait d...	OMIM:616155
Transaldolase Deficiency	Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta	ORPHA:101028
Aneurysm Of Interventricular Septum	Vascular dilatation, Abnormal ventricular septum morphology	OMIM:105805
Scimitar Syndrome	Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa...	ORPHA:185
Loeys-Dietz Syndrome 2	Aortic arch aneurysm, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur...	OMIM:610168
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralys...	OMIM:620011
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe...	OMIM:618138
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventricular septal defect, Coarctation of aorta	OMIM:620210
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab...	ORPHA:402075
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos...	OMIM:212093
Intellectual Developmental Disorder, Autosomal Dominant 21	Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta	OMIM:615502
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca...	OMIM:618300
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Mitochondrial Dna Depletion Syndrome 18	Hand muscle atrophy, Clonus, Axonal degeneration, Distal amyotrophy, Falls, Tongue fasciculations...	OMIM:618811
Coenzyme Q10 Deficiency, Primary, 7	Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef...	OMIM:616276
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre...	ORPHA:248111
Sandhoff Disease, Adult Form	Tremor, Mental deterioration, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness i...	ORPHA:309169
Lessel-Kreienkamp Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ...	OMIM:619149
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Ataxia, Acute rhabdomy...	OMIM:604168
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis	OMIM:126320
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Spinal Muscular Atrophy, Type Iv	Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr...	OMIM:271150
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ...	ORPHA:3426
Cardiac Valvular Dysplasia 2	Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st...	OMIM:620067
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect	OMIM:620203
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial...	OMIM:608978
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Sneddon Syndrome	Cerebral hemorrhage, Stroke, Bicuspid aortic valve, Ischemic stroke	OMIM:182410
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Retinal arterial macroaneurysms, Pulmonic stenosis	OMIM:614224
Neuronal Intestinal Pseudoobstruction	Patent ductus arteriosus, Abnormal cardiac septum morphology	ORPHA:99811
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to...	OMIM:613759
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe...	ORPHA:477817
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ...	ORPHA:2306
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular...	OMIM:617168
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal...	ORPHA:2041
Huntington Disease-Like 2	Rigidity, Chorea, Subcortical dementia, Weight loss, Bradykinesia, Dementia, Dystonia, Memory imp...	OMIM:606438
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve...	OMIM:600987
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Ataxia, Hypoplasia of the pons, Inability ...	OMIM:618276
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi...	ORPHA:1354
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough	OMIM:263000
Patent Ductus Arteriosus 2	Patent ductus arteriosus	OMIM:617035
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve	OMIM:615599
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai...	OMIM:618093
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ...	ORPHA:3097
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Schuurs-Hoeijmakers Syndrome	Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort...	OMIM:615009
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte...	OMIM:600001
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu...	OMIM:616652
Patent Ductus Arteriosus 3	Patent ductus arteriosus	OMIM:617039
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Patent Ductus Arteriosus 1	Patent ductus arteriosus	OMIM:607411
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomegaly, Descendi...	ORPHA:91387
Perching Syndrome	Respiratory distress, Cyanosis	OMIM:617055
Atrial Septal Defect 9	Secundum atrial septal defect, Bicuspid aortic valve	OMIM:614475
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy, Apnea	OMIM:610992
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Chronic Atrial And Intestinal Dysrhythmia	Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis	OMIM:616201
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat...	OMIM:619371
Amyotrophic Lateral Sclerosis 4, Juvenile	Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler...	OMIM:602433
Phaver Syndrome	Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta	ORPHA:2876
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
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Patent ductus arteriosus, Subvalvular aortic stenosis	ORPHA:1338
Behavioral Variant Of Frontotemporal Dementia	Frontotemporal dementia, Astrocytosis, Frontotemporal cerebral atrophy, Gait disturbance, Fascicu...	ORPHA:275864
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Pulmonic Stenosis And Deafness	Ventricular hypertrophy, Pulmonic stenosis	OMIM:178651
Nephronophthisis 16	Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper...	OMIM:615382
Heart And Brain Malformation Syndrome	Ventricular septal defect, Interrupted aortic arch	OMIM:616920
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618330
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept...	OMIM:601927
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Waddling gait, Impaired vibratory sensation, Somatic sensory dysfunction, Lower limb muscle weakn...	OMIM:616924
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st...	OMIM:618164
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal...	OMIM:617672
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai...	ORPHA:157941
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Bicuspid aortic valve	OMIM:617744
Periventricular Nodular Heterotopia	Patent ductus arteriosus, Abnormal heart valve morphology, Aortic aneurysm	ORPHA:98892
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:615490
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part...	OMIM:619657
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle...	ORPHA:3304
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve	OMIM:617751
Spastic Paraplegia 78, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Resting tremor, A...	OMIM:617225
Velocardiofacial Syndrome	Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot...	OMIM:192430
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Small for gestational age, Spinal muscular atrophy, Camptodactyly...	OMIM:604320
Succinic Acidemia	Respiratory distress	OMIM:600335
Spinocerebellar Ataxia 17	Diffuse cerebral atrophy, Chorea, Dysmetria, Gait ataxia, Gliosis, Intention tremor, Ataxia, Conf...	OMIM:607136
Spinocerebellar Ataxia 12	Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At...	ORPHA:371428
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou...	OMIM:179613
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Confusion, Tremor, Babinski sign, Gait atax...	OMIM:615362
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
Congenital Myopathy 11	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619967
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619189
Spinocerebellar Ataxia 18	Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis...	OMIM:607458
Spinocerebellar Ataxia 14	Cerebellar atrophy, Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Attent...	OMIM:605361
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort...	OMIM:600460
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap...	OMIM:612561
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Bicuspid aortic valve	ORPHA:397951
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h...	OMIM:615768
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:614300
Supravalvular Aortic Stenosis	Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis	OMIM:185500
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ...	OMIM:115197
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Stiff Skin Syndrome	Bicuspid aortic valve	OMIM:184900
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Progressive neurologic deterioration, Atrophy/Degeneration affecting the brai...	OMIM:616230
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Axonal degeneration, Impaired vibration sensation in the lower limbs,...	ORPHA:88628
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve...	ORPHA:363705
Cardiac Valvular Dysplasia, X-Linked	Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of...	OMIM:314400
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W...	ORPHA:1302
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Failure to thrive in infancy, Babinski sign, Spastic diplegia, Myoclonus, Increased intra...	OMIM:619065
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Perimemb...	ORPHA:363444
Microphthalmia, Syndromic 9	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atrium, Coarctation of aort...	OMIM:601186
Grange Syndrome	Coronary artery stenosis, Bicuspid aortic valve, Renal artery stenosis, Carotid artery stenosis	OMIM:602531
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h...	OMIM:239850
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ...	ORPHA:2255
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration	ORPHA:2004
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Muscular ventricular septal defect	OMIM:620062
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,...	ORPHA:329224
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond...	OMIM:620068
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Centrally nucleated ...	ORPHA:401768
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri...	OMIM:618280
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Transaldolase Deficiency	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:606003
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration, Mental deterioration	OMIM:610951
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Dementia, Gliosis, Neuronal loss...	OMIM:143100
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic ...	OMIM:620070
Pentasomy X	Patent ductus arteriosus, Abnormal cardiac septum morphology	ORPHA:11
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Feingold Syndrome Type 1	Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor...	ORPHA:391641
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Persistent left super...	OMIM:618494
Mast Syndrome	Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi...	OMIM:248900
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear...	ORPHA:2209
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Right aortic arch, Dextrocardia	OMIM:617577
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S...	OMIM:258450
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central...	OMIM:254110
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ...	ORPHA:300605
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec...	OMIM:265380
Leukodystrophy, Hypomyelinating, 21	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Optic atrophy, Athetosis, Tetraparesis, Dyst...	OMIM:619310
X-Linked Progressive Cerebellar Ataxia	Distal lower limb amyotrophy, Unsteady gait, Cerebellar vermis atrophy, Babinski sign, Dysmetria,...	ORPHA:1175
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Mental deterioration	OMIM:616187
Birk-Aharoni Syndrome	Muscular ventricular septal defect	OMIM:620071
Retinitis Pigmentosa 89	Bicuspid aortic valve	OMIM:618955
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta	OMIM:614857
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral...	OMIM:611302
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:617159
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh...	OMIM:137440
Contractural Arachnodactyly, Congenital	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse...	OMIM:121050
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia...	OMIM:270100
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic parapleg...	OMIM:610357
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory...	OMIM:265120
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pulmonary artery, Abnormal aor...	ORPHA:1166
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal ...	OMIM:618387
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Imp...	ORPHA:276435
Congenital Disorder Of Glycosylation, Type Ih	Patent ductus arteriosus, Perimembranous ventricular septal defect	OMIM:608104
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar...	OMIM:616564
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Dilated fourth ventricle, Torticollis, Ataxia, Small for gestational age, Babinski sign, Cerebell...	OMIM:619054
Huntington Disease	Caudate atrophy, Clonus, Chorea, Decreased body mass index, Clumsiness, Gait disturbance, Gait im...	ORPHA:399
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella...	ORPHA:284332
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart	ORPHA:2001
Testicular Anomalies With Or Without Congenital Heart Disease	Tetralogy of Fallot	OMIM:615542
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Intellectual Developmental Disorder, X-Linked 106	Bicuspid aortic valve	OMIM:300997
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red musc...	ORPHA:254886
Loeys-Dietz Syndrome 4	Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular aorta aneury...	OMIM:614816
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:617450
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:619733
Dandy-Walker Malformation With Postaxial Polydactyly	Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation	OMIM:220220
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri...	OMIM:256731
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f...	OMIM:618652
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri...	OMIM:605275
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Limb dystonia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral...	OMIM:601104
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Skeletal muscle atrophy, Hand muscle weakness, Impaired distal pr...	ORPHA:101097
Tetralogy Of Fallot	Tetralogy of Fallot	ORPHA:3303
Holt-Oram Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ...	ORPHA:392
Spinocerebellar Ataxia 13	Cerebellar atrophy, Impaired distal vibration sensation, Optic atrophy, Abnormal pyramidal sign, ...	OMIM:605259
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb...	OMIM:616053
Focal Cortical Dysplasia, Type Ii	Hemiparesis, Cognitive impairment, Astrocytosis	OMIM:607341
Phenobarbital Embryopathy	Abnormal mitral valve morphology, Tetralogy of Fallot	ORPHA:1919
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:613954
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Generalized amyotrophy, Loss of ambulation, Scapular winging, Facial palsy, Distal amyotrophy, Sh...	OMIM:167320
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat...	OMIM:618748
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb...	OMIM:618369
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Cerebellar atrophy, Ataxia, Inability to walk, Gait ataxia, Increased variability in muscle fiber...	OMIM:617915
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert...	OMIM:619751
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Bradykinesia, Front...	OMIM:221820
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph...	ORPHA:980
Spastic Paraplegia Type 7	Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ragged-red muscle fibers, Opt...	ORPHA:99013
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Patent ductus arteriosus, Right atrial enlargement, Bicuspid aortic valve, Mitral valve prolapse	ORPHA:555877
Mungan Syndrome	Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:611376
Baraitser-Winter Syndrome 1	Patent ductus arteriosus, Aortic valve stenosis, Bicuspid aortic valve	OMIM:243310
Dislocation Of The Hip-Dysmorphism Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology	ORPHA:2412
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Aortic Aneurysm, Familial Thoracic 9	Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse	OMIM:616166
Acrocardiofacial Syndrome	Ventricular septal defect, Mitral stenosis, Coarctation of aorta, Atrial septal defect, Truncus a...	ORPHA:2008
Fanconi Anemia, Complementation Group B	Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta	OMIM:300514
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co...	OMIM:610910
Cerebrotendinous Xanthomatosis	Axonal degeneration, Progressive psychomotor deterioration, Abnormal pyramidal sign, Gliosis, Abn...	ORPHA:909
Inflammatory Skin And Bowel Disease, Neonatal, 2	Coarctation of aorta	OMIM:616069
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Patent ductus arteriosus	OMIM:619519
Spastic Paraplegia 85, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Torticollis, Lowe...	OMIM:619686
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Babinski sign, Spastic g...	OMIM:614409
Isolated Dandy-Walker Malformation	Tetralogy of Fallot	ORPHA:217
Tetrasomy 15Q26	Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch	OMIM:614846
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Writer's ...	ORPHA:98759
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect	OMIM:253300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Snijders Blok-Campeau Syndrome	Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:618205
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:613870
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ...	OMIM:213200
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Short attention span, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impai...	OMIM:619028
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Babinski sign,...	OMIM:612319
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Merrf	Ataxia, Ragged-red muscle fibers, Optic atrophy, Myopathy, Cognitive impairment	ORPHA:551
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, ...	OMIM:615157
Craniofacioskeletal Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch	OMIM:300712
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Impaired distal proprioception, Tremor, Flexion contracture, Impaired vibration sensation in the ...	ORPHA:137898
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Spinocerebellar Ataxia 49	Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Dementia...	OMIM:619806
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Neurodegeneration With Brain Iron Accumulation 6	Dystonia, Rigidity, Oromandibular dystonia, Spastic tetraplegia, Bradykinesia, Distal amyotrophy,...	OMIM:615643
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect	OMIM:618804
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neu...	OMIM:607250
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration, Brachial plexus neu...	OMIM:162100
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans...	OMIM:605376
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve	OMIM:619318
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Parkinsonism, Frontotemporal dementia, Temporal cortical ...	ORPHA:100070
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo...	OMIM:601005
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology	ORPHA:1110
Kleefstra Syndrome Due To 9Q34 Microdeletion	Conotruncal defect, Coarctation of aorta, Abnormal cardiac septum morphology, Aortic valve stenos...	ORPHA:96147
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect...	OMIM:618316
Autosomal Recessive Spastic Paraplegia Type 46	Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Broad-based gait, Ataxia...	ORPHA:320391
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Inability to walk, S...	ORPHA:266
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Noonan Syndrome 8	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hyp...	OMIM:615355
Spastic Paraplegia 7, Autosomal Recessive	Impaired vibration sensation in the lower limbs, Dysmetria, Gait ataxia, Upper limb muscle weakne...	OMIM:607259
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect	ORPHA:2516
Nemaline Myopathy 2	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co...	OMIM:256030
Autosomal Recessive Spastic Paraplegia Type 78	Cerebellar atrophy, Skeletal muscle atrophy, Peripheral axonal neuropathy, Dystonia, Babinski sig...	ORPHA:513436
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai...	OMIM:607459
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Cerebral atrophy, Dysmetria, ...	OMIM:618088
Spinocerebellar Ataxia Type 1	Skeletal muscle atrophy, Chorea, Impaired proprioception, Dysmetria, Abnormal nerve conduction ve...	ORPHA:98755
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch	ORPHA:250989
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gait ...	OMIM:617145
Myofibrillar Myopathy 11	Coarctation of aorta	OMIM:619178
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu...	OMIM:612946
Breath-Holding Spells	Cyanosis	OMIM:607578
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph...	OMIM:614877
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten...	ORPHA:2414
Encephalocraniocutaneous Lipomatosis	Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap...	ORPHA:2396
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Hand tremor, Dementia, Neurodegeneration, Ap...	OMIM:615889
X Small Rings	Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm	ORPHA:96201
Childhood-Onset Nemaline Myopathy	Waddling gait, Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized...	ORPHA:171439
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe...	OMIM:619473
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Frontotemporal dementia, Athetosis, Axonal loss, Gliosi...	OMIM:300857
Cardiomyopathy, Familial Hypertrophic, 1	Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Laryngeal Abductor Paralysis	Stridor, Cyanosis	OMIM:150260
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Vascular ring	OMIM:603387
Spinocerebellar Ataxia 5	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme...	OMIM:600224
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Dextrocardia, Coarctation of aorta	OMIM:618929
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
De Sanctis-Cacchione Syndrome	Ataxia, Axonal degeneration, Optic atrophy, Scissor gait, Cerebral atrophy, Babinski sign, Choreo...	OMIM:278800
Congenital Aortic Valve Stenosis	Thoracic aortic aneurysm, Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocar...	ORPHA:3093
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Lower limb muscle weakness, Dysmetria, Dist...	OMIM:614487
Monosodium Glutamate Sensitivity	Dyspnea, Flushing	OMIM:231630
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve...	ORPHA:1880
Houge-Janssens Syndrome 3	Atrial septal defect, Muscular ventricular septal defect	OMIM:618354
Septopreoptic Holoprosencephaly	Coarctation of aorta	ORPHA:280195
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Spasticity, G...	OMIM:616811
Congenital Rubella Syndrome	Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular ...	ORPHA:290
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart	OMIM:618142
Mosaic Trisomy 16	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Abnormal heart morphol...	ORPHA:1708
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer...	OMIM:607346
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a...	OMIM:264480
Distal 7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Aortic aneurysm	ORPHA:261102
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:616501
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Patent ductus arteriosus, Hypoplastic left heart	OMIM:617661
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis	OMIM:226100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent ductus arteriosus, Patent foramen ovale	OMIM:616867
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Lateral Meningocele Syndrome	Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm	OMIM:130720
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Patent ductus arteriosus	OMIM:241310
Transketolase Deficiency	Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he...	ORPHA:488618
Nemaline Myopathy 9	Ventricular septal defect	OMIM:615731
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Facial hypotonia, Inability to walk, Astrocytosis, Difficulty walking, Slender build	OMIM:611087
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Abnormal aortic morphology	ORPHA:3222
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di...	ORPHA:98764
Asbestos Intoxication	Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh...	ORPHA:2302
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga...	OMIM:616127
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Adrenomyeloneuropathy	Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Dysesthe...	ORPHA:139399
Peters Plus Syndrome	Patent ductus arteriosus, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Abnormal ...	ORPHA:709
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Hengel-Maroofian-Schols Syndrome	Bicuspid aortic valve	OMIM:619641
Spinocerebellar Ataxia 50	Cerebellar atrophy, Ataxia, Postural tremor, Chorea, Froment sign, Myoclonus, Head tremor, Apraxi...	OMIM:620158
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Patent ductus arteriosus, Intracranial hemorrhage, Interrupted aortic ...	ORPHA:163979
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Optic atrophy, Ba...	OMIM:210000
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect	OMIM:618624
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:614114
Chromosome 9P Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric...	OMIM:158170
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Cerebellar atrophy, Skeletal muscle atrophy, Broad-based gait, Ataxia, Clonus, Ragged-red muscle ...	OMIM:616479
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri...	ORPHA:1596
Myoclonus, Intractable, Neonatal	Optic disc pallor, Chorea, Athetosis, Myoclonus, Increased variability in muscle fiber diameter, ...	OMIM:617235
Short Stature-Wormian Bones-Dextrocardia Syndrome	Patent ductus arteriosus, Dextrocardia	ORPHA:2863
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P...	ORPHA:401935
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619909
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Un...	OMIM:608099
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve	OMIM:619721
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Paraproteinemia, Upper limb muscle weakness,...	ORPHA:171442
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Sotos Syndrome	Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Ventricular s...	OMIM:117550
Congenital Myopathy 10A, Severe Variant	Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velocity, Diaphragmatic pa...	OMIM:614399
Mass Syndrome	Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse	OMIM:604308
Spinocerebellar Ataxia 28	Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Ragged-red muscle fibers, Babinski...	OMIM:610246
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta...	ORPHA:261494
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta	OMIM:617602
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,...	OMIM:164280
3-Methylglutaconic Aciduria, Type Iv	Biventricular hypertrophy, Subvalvular aortic stenosis	OMIM:250951
X-Linked Lissencephaly With Abnormal Genitalia	Patent ductus arteriosus, Ventricular septal defect	ORPHA:452
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa...	ORPHA:99125
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypoplastic left hea...	OMIM:100300
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation	Patent ductus arteriosus	OMIM:122430
Christianson Syndrome	Cerebellar atrophy, Decreased muscle mass, Dystonia, Cachexia, Gait ataxia, Truncal ataxia, Aplas...	ORPHA:85278
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619769
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cognitive impairment, Ocu...	ORPHA:208513
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Flexion contracture, Babinski sign...	OMIM:616204
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Involuntary movements, Tongue fasciculations, Increased variability in m...	ORPHA:238329
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi...	ORPHA:1170
Klippel-Trénaunay Syndrome	Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Abnormal tricus...	ORPHA:90308
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Flexion contracture, Astr...	ORPHA:258
Distal Deletion 17Q	Patent ductus arteriosus, Abnormal cardiac septum morphology	ORPHA:1597
Riboflavin Transporter Deficiency	Optic disc pallor, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Tremor, Myoclonus, Ab...	ORPHA:97229
Lethal Faciocardiomelic Dysplasia	Patent ductus arteriosus, Hypoplastic left heart	ORPHA:1972
Optic Atrophy 11	Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Facial diplegia, Athetosi...	OMIM:617302
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Frontotempora...	ORPHA:52430
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Red...	OMIM:610913
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Axonal degeneration, Poor coordination, Neurodegeneration, Abnormal autonomic n...	ORPHA:478029
Igg4-Related Aortitis	Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila...	ORPHA:449400
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Phace Syndrome	Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root...	ORPHA:42775
Toriello-Carey Syndrome	Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal cardiac septum morpholog...	ORPHA:3338
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis...	OMIM:300845
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Patent ductus arteriosus, Overriding aorta, Ventricular septal defect	OMIM:617021
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Aortic root aneurysm,...	OMIM:610443
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Atrial septal defect, Dilation of Virchow-Robin spaces, Bicuspid aortic valve	OMIM:619720
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect	OMIM:617516
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Osteopathia Striata-Cranial Sclerosis Syndrome	Aortic valve stenosis, Coarctation of aorta	ORPHA:2780
Choanal Atresia	Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno...	ORPHA:137914
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Kabuki Syndrome 2	Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:300867
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failur...	ORPHA:363717
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Myopathy, Gait disturbance, Increased...	OMIM:125250
Machado-Joseph Disease	Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Dystonia, Ataxia, Par...	OMIM:109150
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Waddling gait, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal m...	OMIM:617760
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki...	OMIM:300894
Spastic Paraplegia 79B, Autosomal Recessive	Flexion contracture, Impaired proprioception, Hoffmann sign, Dysmetria, Loss of ambulation, Inten...	OMIM:615491
Pulmonic Stenosis	Pulmonic stenosis	OMIM:265500
Prune Belly Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2970
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:105550
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Patent ductus arteriosus, Coarctation of aorta, Interrupted aortic arch, Hypertrophic cardiomyopa...	ORPHA:17
Congenital Disorder Of Glycosylation, Type It	Dilated cardiomyopathy, Ventricular septal defect, Coarctation of aorta, Cardiomegaly	OMIM:614921
9Q31.1Q31.3 Microdeletion Syndrome	Dilated cardiomyopathy, Bicuspid aortic valve	ORPHA:401923
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ...	ORPHA:244
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abnormal cardia...	ORPHA:251071
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Cerebellar atrophy, Limb dystonia, Torticollis, Head titubation, Abnormal pyramidal sign, Limb at...	OMIM:617560
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet...	OMIM:606070
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At...	OMIM:610759
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Mitral stenosis, Coarctation of aorta	OMIM:617260
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria	ORPHA:100057
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Lowry-Maclean Syndrome	Atrioventricular canal defect, Coarctation of aorta	ORPHA:2409
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Progressive psychomotor det...	ORPHA:3208
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig...	ORPHA:284324
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Syndromic Diarrhea	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:84064
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion	ORPHA:50251
Neurodegeneration With Brain Iron Accumulation 4	Tremor, Abnormal pyramidal sign, Oromandibular dystonia, Loss of ambulation, Abnormal lower motor...	OMIM:614298
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Failure to thrive, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Ce...	OMIM:203700
Diabetic Embryopathy	Ventricular septal defect, Tetralogy of Fallot, Abnormal aortic morphology, Transposition of the ...	ORPHA:1926
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort...	OMIM:617506
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Kallmann Syndrome-Heart Disease Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right...	ORPHA:2326
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten...	OMIM:609008
Renal Tubular Dysgenesis	Tetralogy of Fallot	ORPHA:3033
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Abnormal ...	ORPHA:70595
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement...	OMIM:606159
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decreased body weigh...	OMIM:300580
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Ataxia, Lower limb muscle weakness, D...	ORPHA:313772
Mandibulofacial Dysostosis With Alopecia	Bicuspid aortic valve	OMIM:616367
Spinocerebellar Ataxia 2	Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Distal amyotrophy, Myoclonus, Fasc...	OMIM:183090
Butyrylcholinesterase Deficiency	Apnea	OMIM:617936
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Coarctation of aorta	ORPHA:268249
Machado-Joseph Disease Type 3	Skeletal muscle atrophy, Substantia nigra gliosis, Vocal cord paralysis, Abnormal pyramidal sign,...	ORPHA:276244
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Inability to walk, Weight loss, Opisthotonus, Tip-toe ga...	ORPHA:216866
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Dementia, Gliosis, S...	ORPHA:411602
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Chromosome 5Q12 Deletion Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:615668
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Stroke, Ventricular septal defect	ORPHA:49827
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus	OMIM:614886
Spastic Ataxia 3, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Cognitive impairment, Dystoni...	OMIM:611390
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Loss of ambulation, Increased variability in muscle fiber diameter, Flexion contracture, Muscle f...	OMIM:300717
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Patent ductus arteriosus	ORPHA:1952
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:1388
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability...	OMIM:613204
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Perim...	ORPHA:508498
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Congenital Myopathy 3 With Rigid Spine	Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber...	OMIM:602771
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm...	ORPHA:98897
You-Hoover-Fong Syndrome	Coarctation of aorta, Double aortic arch, Vascular ring	OMIM:616954
Congenital Heart Block	Pericardial effusion, Patent ductus arteriosus, Patent foramen ovale, Endocardial fibroelastosis	ORPHA:60041
Char Syndrome	Patent ductus arteriosus	OMIM:169100
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Alg3-Cdg	Cardiomyopathy, Coarctation of the descending aortic arch	ORPHA:79321
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:457279
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Fetal Encasement Syndrome	Tetralogy of Fallot	OMIM:613630
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Ascending tubular ao...	ORPHA:453499
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Skeletal muscle atrophy, Chronic axonal neuropathy, Impaired vibratory sensat...	ORPHA:88644
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse	ORPHA:2868
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Cachexia, Ragged-red muscle fibers, Weight loss, Slender build	OMIM:613662
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ...	OMIM:603516
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Squalene Synthase Deficiency	Bicuspid aortic valve	OMIM:618156
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Progressive neurologic deterioration, Weight loss, Gait ataxia, Failure to thrive	OMIM:612075
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect	OMIM:616589
Diamond-Blackfan Anemia 11	Bicuspid aortic valve	OMIM:614900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Myasthenic Syndrome, Congenital, 14	Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w...	OMIM:616228
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Diamond-Blackfan Anemia 7	Secundum atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal ...	OMIM:612562
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough	ORPHA:77260
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Impaired distal propriocepti...	OMIM:157640
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Waddling gait, Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, Increased variability in ...	OMIM:612937
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Abnormal pyramidal sign, Obes...	OMIM:616267
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Cyanosis, Hypoxemia	ORPHA:464453
Fibromuscular Dysplasia, Arterial	Arterial fibromuscular dysplasia, Stroke, Aortic dissection	OMIM:135580
20Q13.33 Microdeletion Syndrome	Atrial septal defect, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Dilation of...	ORPHA:261311
Isaacs Syndrome	Calf muscle hypertrophy, Weight loss, Fasciculations, Distal sensory impairment	ORPHA:84142
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var...	ORPHA:1878
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr...	ORPHA:2257
Autosomal Spastic Paraplegia Type 58	Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr...	ORPHA:397946
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:2519
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect	OMIM:249270
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl...	OMIM:618129
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:52055
Oculoectodermal Syndrome	Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:600268
Machado-Joseph Disease Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Dilated fourth ventric...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Dilated fourth ventric...	ORPHA:276241
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Cat Eye Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm...	OMIM:115470
Pulmonary Blastoma	Weight loss	ORPHA:64741
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Cerebral atrophy, Myopathy, Gliosis, Brain atrophy, Limb dystonia, Increased ...	OMIM:604377
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Tetralogy of Fallot	ORPHA:1381
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti...	OMIM:300623
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Mosaic Trisomy 1	Pulmonary artery atresia, Ventricular septal defect, Coarctation of aorta	ORPHA:1692
Cardiomyopathy, Familial Restrictive, 3	Restrictive cardiomyopathy, Aortic aneurysm, Myocardial sarcomeric disarray, Right atrial enlarge...	OMIM:612422
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:612938
Zimmermann-Laband Syndrome 3	Patent ductus arteriosus	OMIM:618658
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu...	OMIM:619042
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale, P...	OMIM:300707
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Dystonia, Action tremor, Rigidity, Astrocytosis, Bradykinesia, Poor fine motor coordination, Dysd...	ORPHA:309854
Bone Dysplasia, Lethal Holmgren Type	Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus	ORPHA:1842
3P25.3 Microdeletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor...	ORPHA:435638
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Tortuous cerebral arteries, Bicuspid aortic valve, Thoracic aortic aneur...	OMIM:613795
Dilated Cardiomyopathy With Ataxia	Muscular ventricular septal defect, Dilated cardiomyopathy	ORPHA:66634
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Pulmonic stenosis	OMIM:615508
Fg Syndrome Type 1	Atrial septal defect, Coarctation of aorta, Mitral valve prolapse	ORPHA:93932
Kagami-Ogata Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:608149
Alagille Syndrome 2	Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pulmonic stenosis	OMIM:610205
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
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,...	ORPHA:247234
Ritscher-Schinzel Syndrome 2	Atrial septal defect, Pulmonary artery hypoplasia, Patent ductus arteriosus, Ventricular septal d...	OMIM:300963
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Skeletal muscle atrophy, Peripheral axonal neuropathy, Somatic sensory dysfun...	ORPHA:98771
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Patent ductus arteriosus	OMIM:615147
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi...	OMIM:620386
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Muscular ventricular septal defect	OMIM:619227
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO	ORPHA:747
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect	OMIM:616816
Alg12-Cdg	Biventricular hypertrophy, Muscular ventricular septal defect, Patent ductus arteriosus, Patent f...	ORPHA:79324
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Broad-based gait, Frequent falls,...	ORPHA:353
Distal Triplication 15Q	Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology	ORPHA:314588
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ...	OMIM:253601
Opitz Gbbb Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Persistent left s...	ORPHA:2745
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Ataxia, Tendon xanthomatosis, Impaired proprioception, Dysmetria, Clumsiness,...	OMIM:277460
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Pulmonary artery atresia, Double outlet right ventricle, Ventricular septal defect, Pulmonic sten...	OMIM:301056
Fatal Familial Insomnia	Ataxia, Weight loss, Dementia, Myoclonus, Abnormal autonomic nervous system physiology, Neuronal ...	OMIM:600072
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Congenital Myopathy 6 With Ophthalmoplegia	Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,...	OMIM:605637
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,...	ORPHA:98913
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part...	OMIM:190685
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect	OMIM:618901
Spinocerebellar Ataxia 34	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, G...	OMIM:133190
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea...	OMIM:620310
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia...	OMIM:614575
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Waddling gait, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy,...	ORPHA:86812
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, ...	OMIM:248800
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ...	OMIM:612474
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased muscle mass, C...	ORPHA:298
Meckel Syndrome, Type 7	Situs inversus totalis, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis, Ri...	OMIM:267010
Chronic Intestinal Pseudoobstruction	Patent ductus arteriosus	ORPHA:2978
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var...	OMIM:619790
Chromosome 6Q24-Q25 Deletion Syndrome	Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di...	OMIM:612863
Mullegama-Klein-Martinez Syndrome	Hypoplastic left heart, Apical muscular ventricular septal defect, Coarctation of aorta	OMIM:301022
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl...	OMIM:157800
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Symmetric peripheral demyelination, Progressive neurologic deterioration, Corpus callosum...	OMIM:169500
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:618870
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:244450
Acute Interstitial Pneumonia	Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato...	ORPHA:79126
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,...	OMIM:604391
Thanatophoric Dysplasia Type 2	Atrial septal defect, Patent ductus arteriosus	ORPHA:93274
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Tremor, Increased variability in muscle fiber dia...	ORPHA:502423
Flynn-Aird Syndrome	Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation, Dementia, Cerebral cortical a...	ORPHA:2047
Developmental Delay With Or Without Dysmorphic Facies And Autism	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:618454
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect	OMIM:301039
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Emanuel Syndrome	Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria...	OMIM:609029
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S...	OMIM:300696
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Fryns Syndrome	Abnormal aortic arch morphology, Abnormal cardiac septum morphology, Tetralogy of Fallot, Abnorma...	ORPHA:2059
Thanatophoric Dysplasia	Atrial septal defect, Patent ductus arteriosus	ORPHA:2655
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno...	OMIM:618654
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Oromandibu...	ORPHA:101
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Muscular ventricular septal defect	OMIM:618569
Autosomal Recessive Spastic Paraplegia Type 39	Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Spastic paraplegia, Babins...	ORPHA:139480
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Patent ductus arteriosus, Aortic root aneurysm	ORPHA:404443
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Ventricular septal defect	OMIM:615524
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:457193
Mckusick-Kaufman Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect...	ORPHA:2473
Perry Syndrome	Parkinsonism, Tremor, Weight loss, Dementia, Abnormality of extrapyramidal motor function	ORPHA:178509
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Distal amyotrophy, Gait di...	OMIM:612020
Slc35A1-Cdg	Respiratory distress, Pneumonia, Subcutaneous hemorrhage, Hypoxemia	ORPHA:238459
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Flexion contracture, Increased variability in muscle fiber diameter, Frequent falls, Muscle fiber...	OMIM:300718
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Hunter-Macdonald Syndrome	Patent ductus arteriosus, Bicuspid aortic valve, Mitral valve prolapse	OMIM:611962
Oculofaciocardiodental Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosi...	ORPHA:2712
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Frequent falls, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion...	ORPHA:75840
Keutel Syndrome	Pulmonary artery stenosis, Ventricular septal defect	ORPHA:85202
Thoracoabdominal Syndrome	Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries	OMIM:313850
Congenital-Onset Steinert Myotonic Dystrophy	Patent ductus arteriosus, Abnormal cardiac septum morphology	ORPHA:589821
Chondrodysplasia, Blomstrand Type	Preductal coarctation of the aorta	OMIM:215045
Rett Syndrome	Skeletal muscle atrophy, Dystonia, Cachexia, Gait apraxia, Gait ataxia, Truncal ataxia, Spasticit...	OMIM:312750
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:620327
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator...	ORPHA:79127
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, P...	OMIM:612582
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Flexion contracture, Muscle...	OMIM:254090
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Lymphedema-Distichiasis Syndrome	Varicose veins, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Dyst...	OMIM:606002
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Combined Oxidative Phosphorylation Deficiency 2	Patent ductus arteriosus	OMIM:610498
Hereditary Methemoglobinemia	Cyanosis, Exertional dyspnea	ORPHA:621
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Patent ductus arteriosus	ORPHA:1516
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect, Vascular dilatation	OMIM:219730
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353281
Charge Syndrome	Aortic arch aneurysm, Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aort...	ORPHA:138
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Cardiomyopathy, Patent ductus arteriosus, Patent foramen ovale	OMIM:616866
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:178650
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Weight loss, Bradykinesia, Dys...	OMIM:168605
Recombinant 8 Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def...	ORPHA:96167
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:220500
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Axenfeld-Rieger Syndrome, Type 3	Atrial septal defect, Patent ductus arteriosus	OMIM:602482
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Axial dystonia, Decreased motor nerve conduction velocity, Failure to thrive in infancy, Flexion ...	OMIM:619026
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis	OMIM:618223
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve	OMIM:613355
Koolen-De Vries Syndrome	Abnormal cardiac septum morphology, Bicuspid aortic valve	ORPHA:96169
Bardet-Biedl Syndrome 16	Respiratory distress	OMIM:615993
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm	OMIM:617349
Robinow Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At...	ORPHA:97360
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Optic atrophy, Choreoathetosis, Gait disturbance,...	ORPHA:702
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Skeletal muscle atrophy, Progressive neurologic ...	ORPHA:90324
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Pulmonic stenosis	OMIM:264140
Noonan Syndrome 11	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:618499
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H...	ORPHA:370022
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Kapur-Toriello Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:244300
Rhizomelic Syndrome	Pulmonic stenosis	OMIM:268250
Tuberculosis	Weight loss	ORPHA:3389
Bethlem Myopathy 2	Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter	OMIM:616471
6P22 Microdeletion Syndrome	Patent ductus arteriosus	ORPHA:251046
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Abnormal vena...	ORPHA:163956
Mosaic Variegated Aneuploidy Syndrome	Atrial septal defect, Abnormal aortic morphology, Coarctation of aorta, Subvalvular aortic stenosis	ORPHA:1052
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Short attention span, Chorea, Babinski sign, Optic atrophy, Dysmetria, Cerebr...	OMIM:610217
Congenital Tracheal Stenosis	Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left...	ORPHA:141127
Holt-Oram Syndrome	Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l...	OMIM:142900
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	ORPHA:75389
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Dysplastic pulmonary valve	OMIM:300958
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:620113
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Patent ductus arteriosus, Atrioventricular canal defect, Coarctation of aorta	OMIM:619480
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi...	OMIM:253700
Frontometaphyseal Dysplasia 2	Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Pulmonic stenosis	OMIM:617137
Halperin-Birk Syndrome	Perimembranous ventricular septal defect	OMIM:618651
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Monosomy 18Q	Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen...	ORPHA:1600
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Patent ductus arteriosus, Ascending tu...	OMIM:601808
Noonan Syndrome 3	Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr...	OMIM:609942
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Patent ductus arteriosus, Cerebral hemorrhage	OMIM:617397
Sarcosinemia	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:3129
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Inability to walk, Muscular ...	OMIM:617066
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
Spinocerebellar Ataxia 6	Cerebellar atrophy, Incoordination, Ataxia, Abnormal vestibulo-ocular reflex, Slurred speech, Dys...	OMIM:183086
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta	OMIM:616145
Multifocal Atrial Tachycardia	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	ORPHA:3282
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Ventricular septal defect	OMIM:300472
Esophageal Atresia	Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta	ORPHA:1199
Robinow Syndrome, Autosomal Recessive 2	Bicuspid aortic valve	OMIM:618529
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:608779
Alagille Syndrome 1	Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def...	OMIM:118450
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Weill-Marchesani Syndrome 1	Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	OMIM:277600
Lambert Syndrome	Ventricular septal defect	ORPHA:1296
Polyvalvular Heart Disease Syndrome	Aortic valve stenosis, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse	ORPHA:228410
Digeorge Syndrome	Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch, Truncus arteriosus,...	OMIM:188400
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Carpenter Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Pulmoni...	OMIM:201000
Congenital Disorder Of Glycosylation, Type Iil	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614576
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Trisomy 13	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:3378
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Patent ductus arteriosus, Atrioventricular canal defect, Coarctation of aorta	OMIM:617088
Combined Oxidative Phosphorylation Deficiency 31	Hypertonia, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased ...	OMIM:617228
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ...	OMIM:139210
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Dementia, Falls, Gliosis, Cognitive...	ORPHA:683
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal...	ORPHA:1145
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con...	ORPHA:600
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Buerger Disease	Acrocyanosis	ORPHA:36258
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Malaria	Respiratory distress	ORPHA:673
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Wolcott-Rallison Syndrome	Atrial septal defect, Double outlet right ventricle	ORPHA:1667
Weill-Marchesani Syndrome 3	Aortic valve stenosis, Pulmonic stenosis	OMIM:614819
Angioedema, Hereditary, 1	Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Orofaciodigital Syndrome Vi	Hypoplastic left heart, Coarctation of aorta	OMIM:277170
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Patent ductus arteriosus, Ventricular septal defect	OMIM:106260
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Aortic valve stenosis, Bicuspid aortic valve	OMIM:614501
Autosomal Recessive Spastic Paraplegia Type 35	Dysmetria, Foot dorsiflexor weakness, Cognitive impairment, Oculomotor apraxia, Cerebellar atroph...	ORPHA:171629
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress	OMIM:615042
Tetraamelia Syndrome 2	Ventricular septal defect, Hypoplastic pulmonary veins	OMIM:618021
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Perimembranous ventricular septal defect, Ventricular septal defect	OMIM:301040
Gaucher Disease, Type Iiic	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Calcification of the aorta,...	OMIM:231005
Kyphoscoliotic Ehlers-Danlos Syndrome	Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Antenatal intracer...	ORPHA:536545
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:617061
Emanuel Syndrome	Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria...	ORPHA:96170
Schimmelpenning-Feuerstein-Mims Syndrome	Coarctation of aorta	OMIM:163200
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Confusion, Parkinsonism, Dementia, Hypertonia, Semantic dementia, Myoclonus, Apraxia, Ocu...	ORPHA:1020
10Q22.3Q23.3 Microdeletion Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse	ORPHA:276413
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre...	OMIM:618484
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum...	OMIM:300855
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coarctation of aorta,...	OMIM:180849
Noonan Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Atr...	OMIM:163950
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect	OMIM:620024
Thrombocytopenia-Absent Radius Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:274000
Analbuminemia	Patent ductus arteriosus	OMIM:616000
De Barsy Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on ...	ORPHA:2962
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Patent ductus arteriosus, Abnormal aortic valve morphology	ORPHA:86818
Distal Xq28 Microduplication Syndrome	Patent ductus arteriosus, Patent foramen ovale	ORPHA:293939
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula...	OMIM:618775
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
Congenital Myopathy 4A, Autosomal Dominant	Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r...	OMIM:255310
Pulmonary Capillary Hemangiomatosis	Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple...	ORPHA:199241
Diamond-Blackfan Anemia 10	Patent ductus arteriosus, Ventricular septal defect	OMIM:613309
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Marfan Syndrome	Bicuspid aortic valve, Mitral annular calcification, Mitral valve prolapse, Ascending tubular aor...	OMIM:154700
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Decreased motor nerve conduction velocity, Limb joint contracture, Cachexia, ...	OMIM:618186
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Respiratory failure, Paroxysmal dyspnea, Cyanosis	ORPHA:444013
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Distal amyo...	OMIM:617675
Woods Syndrome	Ventricular septal defect	OMIM:615236
Trisomy 1Q	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261344
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Trisomy 17P	Patent ductus arteriosus, Aortic valve stenosis, Hypoplastic left heart	ORPHA:261290
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox...	OMIM:610978
Diamond-Blackfan Anemia	Radial artery aplasia, Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology...	ORPHA:124
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Idiopathic Achalasia	Weight loss	ORPHA:930
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Pulmonic stenosis	OMIM:619433
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Giant Cell Arteritis	Pericarditis, Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary vent...	ORPHA:397
Congenital Myopathy 15	Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability ...	OMIM:620161
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Patent ductus arteriosus	OMIM:619797
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Spinocerebellar Ataxia Type 8	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste...	ORPHA:98760
Perlman Syndrome	Interrupted aortic arch	OMIM:267000
Jacobsen Syndrome	Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	ORPHA:2308
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi...	OMIM:615415
Shashi-Pena Syndrome	Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces	OMIM:617190
Diamond-Blackfan Anemia 1	Atrial septal defect, Ventricular septal defect, Tricuspid stenosis, Coarctation of aorta	OMIM:105650
Branchial Arch Syndrome, X-Linked	Pulmonic stenosis	OMIM:301950
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos...	OMIM:602782
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Cerebellar vermis hypoplasia, Ankle flexion contracture, Elbow flexion contracture, Increased var...	OMIM:619461
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ...	OMIM:620249
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia	ORPHA:1908
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Weight loss, Distal amyotrophy, Brain atrophy,...	OMIM:164310
Cantú Syndrome	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Diffuse Neonatal Hemangiomatosis	Patent ductus arteriosus	ORPHA:2123
Laryngeal Neuroendocrine Tumor	Neuroendocrine neoplasm, Weight loss	ORPHA:100083
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se...	OMIM:614609
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Mental deterioration, Bradykinesia, Dementia, Gait distur...	OMIM:168601
Pseudo-Torch Syndrome 1	Patent ductus arteriosus, Patent foramen ovale	OMIM:251290
Zaki Syndrome	Patent ductus arteriosus, Patent foramen ovale	OMIM:619648
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
3C Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,...	ORPHA:7
Hardikar Syndrome	Ventricular septal defect, Patent ductus arteriosus, Partial anomalous pulmonary venous return, P...	OMIM:301068
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Infantile Krabbe Disease	Psychomotor deterioration, Lower limb spasticity, Diffuse cerebral atrophy, Prolonged brainstem a...	ORPHA:206436
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Multiple System Atrophy 1, Susceptibility To	Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinsk...	OMIM:146500
Fumarase Deficiency	Perimembranous ventricular septal defect	OMIM:606812
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Flexion contracture, Myopathy, Gait disturbance	ORPHA:157973
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Patent ductus arteriosus	ORPHA:2547
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri...	ORPHA:2038
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Patent ductus arteriosus	ORPHA:1790
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ...	OMIM:620265
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor...	ORPHA:363958
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Atria...	ORPHA:2637
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat...	ORPHA:438213
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus, Mitral valve prolapse	OMIM:104350
Serkal Syndrome	Ventricular septal defect, Pulmonic stenosis	ORPHA:139466
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula...	OMIM:613001
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Hypo...	ORPHA:508488
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
X-Linked Centronuclear Myopathy	Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Inability to walk, Ty...	ORPHA:596
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough	ORPHA:142
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Muscular ventricular septal defect, Coarctation of aorta, Atrial septa...	OMIM:210710
Neurofibromatosis-Noonan Syndrome	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:638
Verheij Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:615583
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia	ORPHA:1216
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventricular septal defect	OMIM:613730
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Transposition of the great arteries	OMIM:616789
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Coarctation of aorta, Left ventricul...	OMIM:220111
Chronic Hiccup	Abnormality of the diaphragm, Weight loss	ORPHA:396
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Neonatal death, Respiratory insufficiency	OMIM:245650
Thanatophoric Dysplasia Type 1	Atrial septal defect, Patent ductus arteriosus	ORPHA:1860
Chops Syndrome	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary ve...	OMIM:616368
Kanzaki Disease	Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment, C...	OMIM:609242
3Q29 Microdeletion Syndrome	Patent ductus arteriosus, Subvalvular aortic stenosis	ORPHA:65286
Pentalogy Of Cantrell	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal pericardium morpho...	ORPHA:1335
Ssr4-Cdg	Patent ductus arteriosus	ORPHA:370927
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353277
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
45,X/46,Xy Mixed Gonadal Dysgenesis	Bicuspid aortic valve, Coarctation of aorta	ORPHA:1772
C Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:211750
Choreoacanthocytosis	Caudate atrophy, Peroneal muscle atrophy, Chorea, Oromandibular dystonia, Hypertonia, Limb dyston...	ORPHA:2388
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect	OMIM:145420
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de...	OMIM:249420
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Atrial septal defect, Patent ductus arteriosus	OMIM:618005
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc...	OMIM:612999
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ventricular septal defect, Mitral atresia, Ascending aorta hypoplasia, Muscular ventricular septa...	OMIM:619503
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia, Inability to walk, Cer...	OMIM:616801
Kabuki Syndrome	Abnormal cardiac septum morphology, Coarctation of aorta	ORPHA:2322
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Patent ductus arteriosus	OMIM:618961
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Atrioventricular canal defect, Persistent left superior vena cava, Transposition of...	OMIM:314390
Alkaptonuria	Aortic valve calcification, Mitral valve calcification, Coronary artery calcification, Aortic ane...	OMIM:203500
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
8P11.2 Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Mitral valve prolapse	ORPHA:251066
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Respiratory insufficiency, Exertional dyspnea	OMIM:614370
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Tremor, Decreased nerve conduction velocity, Vocal cord par...	ORPHA:397744
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:611705
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:614096
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ...	ORPHA:486815
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Cardiomyopathy, Patent ductus arteriosus, Abnormal cardiac septum morphology	OMIM:217980
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Myocarditis, Vasculitis, Ascending tubular aorta a...	ORPHA:2331
Glossopharyngeal Neuralgia	Dysesthesia, Cranial nerve compression, Schwannoma, Vocal cord paralysis, Weight loss, Chiari typ...	ORPHA:221098
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect	OMIM:602501
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Doubl...	OMIM:300166
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Typical Nemaline Myopathy	Waddling gait, Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variabil...	ORPHA:171436
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Seckel Syndrome 9	Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect	OMIM:616777
Weill-Marchesani Syndrome 2	Ventricular septal defect, Patent ductus arteriosus, Ascending aortic dissection, Pulmonic stenos...	OMIM:608328
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
17Q23.1Q23.2 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:261279
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Increased variability in muscle fiber diameter	OMIM:611615
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:397709
Gm1 Gangliosidosis	Generalized dystonia, Ataxia, Camptodactyly of finger, Dystonia, Tremor, Aplasia/Hypoplasia of th...	ORPHA:354
Insulin Autoimmune Syndrome	Increased circulating antibody level, Weight loss	ORPHA:411593
Congenital Myopathy 18	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e...	OMIM:620246
Cap Myopathy	Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Tip-toe gait, Generalized ...	ORPHA:171881
Tyshchenko Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Patent ductus arteriosu...	ORPHA:99776
Diencephalic Syndrome	Optic atrophy, Cachexia, Decreased body weight	ORPHA:1672
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Atrial septal defect, Pulmonic stenosis	OMIM:619239
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight l...	ORPHA:94080
Nipah Virus Disease	Respiratory distress, Cough	ORPHA:99825
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art...	OMIM:607872
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Atrial septal defect, Patent ductus arteriosus, Dextrocardia	OMIM:277380
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:613752
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Neurocardiofaciodigital Syndrome	Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:619869
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Patent ductus arteriosus	ORPHA:171839
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79345
Fontaine Progeroid Syndrome	Atrial septal defect, Prominent superficial veins, Bicuspid aortic valve, Patent ductus arteriosu...	OMIM:612289
Thakker-Donnai Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries	ORPHA:1780
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect	ORPHA:40366
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Odontochondrodysplasia	Patent ductus arteriosus	ORPHA:166272
Filippi Syndrome	Ventricular septal defect	OMIM:272440
Autosomal Dominant Cutis Laxa	Dilatation of the ventricular cavity, Aortic aneurysm, Peripheral pulmonary artery stenosis, Coar...	ORPHA:90348
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia, Cachexia	ORPHA:1933
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Galloway-Mowat Syndrome 3	Coarctation of aorta	OMIM:617729
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Progeroid Short Stature With Pigmented Nevi	Aortic valve stenosis, Bicuspid aortic valve	OMIM:176690
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Ventricular septal defect	OMIM:263630
Atelis Syndrome 2	Patent ductus arteriosus, Pulmonic stenosis, Supravalvar pulmonary stenosis	OMIM:620185
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Pulmonary artery stenosis, Ventricular septal defect	OMIM:611812
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Takenouchi-Kosaki Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Pulmonic stenosis	OMIM:616737
Robinow Syndrome, Autosomal Dominant 3	Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Pulmonary artery at...	OMIM:616894
Oromandibular Dystonia	Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto...	ORPHA:93958
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea	OMIM:261680
Meckel Syndrome, Type 1	Patent ductus arteriosus, Abnormal cardiac septum morphology, Vascular dilatation, Coarctation of...	OMIM:249000
Ivic Syndrome	Patent ductus arteriosus, Tetralogy of Fallot	OMIM:147750
Mgat2-Cdg	Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology	ORPHA:79329
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Transposition of the great arteries, Subval...	OMIM:280000
Intellectual Disability-Strabismus Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:363528
Aneurysm-Osteoarthritis Syndrome	Arterial dissection, Arterial tortuosity, Patent ductus arteriosus, Abnormal heart morphology, Di...	ORPHA:284984
Congenital Disorder Of Glycosylation, Type Ie	Patent ductus arteriosus	OMIM:608799
Neurodegeneration With Brain Iron Accumulation 1	Decreased muscle mass, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Ataxia, ...	OMIM:234200
Desbuquois Syndrome	Ventricular septal defect	ORPHA:1425
Aase-Smith Syndrome I	Ventricular septal defect	OMIM:147800
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Difficulty walking, Pelvic gi...	ORPHA:119
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in...	OMIM:211530
X-Linked Creatine Transporter Deficiency	Ataxia, Aganglionic megacolon, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia	ORPHA:52503
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Paternal Uniparental Disomy Of Chromosome 6	Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Abnormal heart morphology	ORPHA:254534
Congenital Disorder Of Glycosylation, Type Ig	Patent ductus arteriosus, Patent foramen ovale	OMIM:607143
Classic Hodgkin Lymphoma	Ataxia, Bone marrow hypocellularity, Weight loss	ORPHA:391
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,...	OMIM:175050
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect	ORPHA:2256
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Restrictive cardiomyopathy, Patent ductus arteriosus	OMIM:615398
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Aortic valve stenosis, Bicuspid aortic valve	OMIM:613563
Ogden Syndrome	Pulmonary artery stenosis, Ventricular septal defect	ORPHA:276432
Lymphatic Malformation 13	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:620244
Joubert Syndrome 18	Ventricular septal defect	OMIM:614815
7Q31 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus after birth at term	ORPHA:251061
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic valve calcification, Aortic valve stenosis	OMIM:114065
Williams Syndrome	Abnormal endocardium morphology, Aortic arch aneurysm, Overriding aorta, Bicuspid aortic valve, V...	ORPHA:904
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Turner Syndrome Due To Structural X Chromosome Anomalies	Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Coarctation of aorta, Gastroint...	ORPHA:99413
Mosaic Monosomy X	Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Coarctation of aorta, Gastroint...	ORPHA:99228
Monosomy X	Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Coarctation of aorta, Gastroint...	ORPHA:99226
Turner Syndrome	Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Coarctation of aorta, Gastroint...	ORPHA:881
Spondyloepimetaphyseal Dysplasia, Krakow Type	Atrial septal defect, Patent ductus arteriosus	OMIM:618162
Subaortic Stenosis-Short Stature Syndrome	Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis	ORPHA:3191
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Chromosome 10Q26 Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus	OMIM:609625
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Isolated Klippel-Feil Syndrome	Ventricular septal defect	ORPHA:2345
Wiedemann-Steiner Syndrome	Atrial septal defect, Patent ductus arteriosus	OMIM:605130
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Neonatal death	OMIM:300219
Chromosome 13Q33-Q34 Deletion Syndrome	Left ventricular hypertrophy, Patent ductus arteriosus, Pulmonic stenosis	OMIM:619148
Pulmonary Alveolar Microlithiasis	Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:60025
Neuroblastoma, Susceptibility To, 1	Ataxia, Horner syndrome, Weight loss, Myoclonus, Failure to thrive, Ganglioneuroma	OMIM:256700
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Retinal arteriolar tortuosity, Pa...	ORPHA:567
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve	OMIM:271640
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Renal-Hepatic-Pancreatic Dysplasia 1	Atrial septal defect, Aortic valve stenosis, Patent ductus arteriosus, Situs inversus totalis	OMIM:208540
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Parkinsonism, Weight loss, Dementia, Abnormal autonomic nervous system p...	OMIM:605543
Ctcf-Related Neurodevelopmental Disorder	Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta	ORPHA:363611
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect	OMIM:309520
X-Linked Mandibulofacial Dysostosis	Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis	ORPHA:1131
Wrinkly Skin Syndrome	Muscular ventricular septal defect, Atrial septal dilatation	OMIM:278250
Williams-Beuren Region Duplication Syndrome	Patent ductus arteriosus	OMIM:609757
Chromosome 14Q11-Q22 Deletion Syndrome	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale	OMIM:613457
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Jaundice, Abnormal respiratory ...	ORPHA:90051
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1519
Carpenter Syndrome	Patent ductus arteriosus	ORPHA:65759
Chiari Malformation Type Ii	Cyanosis, Inspiratory stridor	OMIM:207950
Fanconi Anemia, Complementation Group F	Atrial septal defect, Patent ductus arteriosus	OMIM:603467
Phelan-Mcdermid Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:606232
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Patent ductus arteriosus	OMIM:618659
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Carotid artery dissection, Pulmonary artery stenosis, Aortic root aneury...	OMIM:208050
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Patent ductus arteri...	OMIM:612541
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
Coffin-Siris Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def...	ORPHA:1465
Chime Syndrome	Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre...	ORPHA:3474
17Q11 Microdeletion Syndrome	Abnormal internal carotid artery morphology, Coarctation of aorta, Abnormal heart morphology, Dil...	ORPHA:97685
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Patent ductus arteriosus	OMIM:300048
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect	OMIM:617635
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Ataxia, Cachexia, Myopathy, Distal arthrogryposis, Lethargy	ORPHA:42
Mucopolysaccharidosis-Plus Syndrome	Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus	OMIM:617303
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage	ORPHA:369929
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p...	ORPHA:1329
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Retinal arteriolar tortuosity, Mitral valve pro...	OMIM:194050
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i...	OMIM:613157
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f...	ORPHA:555874
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Dilatation of the cerebral artery, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm	OMIM:619475
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
3Mc Syndrome 1	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:257920
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormal vena cava morphology, Ventricular septal defect	ORPHA:166035
Ververi-Brady Syndrome	Transposition of the great arteries	OMIM:617982
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency	OMIM:617239
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:270400
Prune Belly Syndrome	Patent ductus arteriosus	OMIM:100100
Pallister-Hall Syndrome	Patent ductus arteriosus, Ventricular septal defect, Preductal coarctation of the aorta	OMIM:146510
Chromosome 15Q25 Deletion Syndrome	Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia	OMIM:614294
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic...	OMIM:615512
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola...	OMIM:609454
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect	OMIM:619980
Floating-Harbor Syndrome	Atrial septal defect, Mesocardia, Persistent left superior vena cava, Coarctation of aorta	OMIM:136140
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Deafness-Craniofacial Syndrome	Patent ductus arteriosus	ORPHA:3241
Floating-Harbor Syndrome	Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left supe...	ORPHA:2044
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a...	OMIM:620025
Silver-Russell Syndrome 3	Patent ductus arteriosus	OMIM:616489
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Intracranial hemorrhage, Aortic root aneurys...	ORPHA:363618
Brachydactyly, Type B1	Ventricular septal defect	OMIM:113000
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Neuroendocrine Tumor Of The Colon	Abnormal pulmonary valve cusp morphology	ORPHA:100080
Kabuki Syndrome 1	Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:147920
Hereditary Central Diabetes Insipidus	Lethargy, Weight loss	ORPHA:30925
Donnai-Barrow Syndrome	Ventricular septal defect	ORPHA:2143
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe...	OMIM:619472
Sweeney-Cox Syndrome	Patent ductus arteriosus, Patent foramen ovale	OMIM:617746
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Vascular dilatation, Varicose veins, Pulmonic stenosis, Aortic dissection	OMIM:618343
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Knobloch Syndrome	Patent ductus arteriosus, Dextrocardia	ORPHA:1571
Eosinophilic Fasciitis	Myositis, Muscular edema, Paresthesia, Weight loss	ORPHA:3165
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Mitral valve prolapse, Pulm...	ORPHA:500
Lynch Syndrome	Glioblastoma multiforme, Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, We...	ORPHA:144
Congenital Myopathy 22A, Classic	Waddling gait, Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Ach...	OMIM:620351
Combined Oxidative Phosphorylation Deficiency 3	Patent ductus arteriosus, Dilated cardiomyopathy, Patent foramen ovale, Concentric hypertrophic c...	OMIM:610505
Holocarboxylase Synthetase Deficiency	Lethargy, Ataxia, Weight loss	ORPHA:79242
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:608572
Roifman Syndrome	Noncompaction cardiomyopathy, Ventricular septal defect	OMIM:616651
Ramos-Arroyo Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:1051
Blomstrand Lethal Chondrodysplasia	Coarctation of aorta	ORPHA:50945
Allergic Bronchopulmonary Aspergillosis	Cerebral cortical atrophy, Weight loss	ORPHA:1164
Central Diabetes Insipidus	Lethargy, Failure to thrive, Weight loss	ORPHA:178029
Reticular Dysgenesis	Decreased circulating antibody level, Failure to thrive, Weight loss	ORPHA:33355
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos...	OMIM:253800
White-Sutton Syndrome	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:616364
Neurodevelopmental Disorder With Spasticity And Poor Growth	Patent ductus arteriosus, Patent foramen ovale	OMIM:618076
Tularemia	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:3392
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Hypoesthesia, Ragged-red muscle fibers, Distal sensory impairment, Weight loss, Distal ...	OMIM:603041
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis,...	ORPHA:96121
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Atrial septal defect, Patent ductus arteriosus	OMIM:300968
Craniofacial Microsomia 1	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Right aortic arch, Tet...	OMIM:164210
Rodrigues Blindness	Ectodermal dysplasia, Nasal flaring	OMIM:268320
Blepharophimosis-Impaired Intellectual Development Syndrome	Patent ductus arteriosus	OMIM:619293
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Desmosterolosis	Patent ductus arteriosus, Total anomalous pulmonary venous return	OMIM:602398
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:619123
Periventricular Nodular Heterotopia 7	Ventricular septal defect	OMIM:617201
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Ventricular septal defect	OMIM:206900
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
King-Denborough Syndrome	Ventricular septal defect	OMIM:619542
Mu-Heavy Chain Disease	Increased circulating antibody level, Weight loss	ORPHA:100024
Distal Deletion 10Q	Atrial septal defect, Patent ductus arteriosus	ORPHA:96148
Familial Colorectal Cancer Type X	Glioblastoma multiforme, Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, We...	ORPHA:440437
Singleton-Merten Syndrome 2	Aortic valve calcification, Aortic valve stenosis	OMIM:616298
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrial septal defect, Atrioventricular canal defect, Patent ductus arteriosus, Ventricular septal...	ORPHA:3047
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Respiratory failure, Palmoplantar cutis laxa, Neonatal death...	OMIM:616482
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
Juvenile Polyposis Of Infancy	Atrial septal defect, Patent ductus arteriosus, Abnormal heart morphology	ORPHA:79076
Trichorhinophalangeal Syndrome, Type Ii	Internal carotid artery dissection, Bicuspid aortic valve, Cerebral arteriovenous malformation, P...	OMIM:150230
Desmosterolosis	Patent ductus arteriosus, Anomalous pulmonary venous return	ORPHA:35107
Alkaptonuria	Mitral valve calcification, Abnormal heart valve morphology, Coronary artery calcification, Aorti...	ORPHA:56
Congenital Fibrinogen Deficiency	Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage	ORPHA:335
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Peroxisome Biogenesis Disorder 1A (Zellweger)	Patent ductus arteriosus, Ventricular septal defect	OMIM:214100
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect	ORPHA:464311
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:123700
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype...	OMIM:615474
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:618950
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Atrial septal defect, Patent ductus arteriosus	OMIM:614080
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Neuroendocrine Tumor Of The Rectum	Abnormal pulmonary valve cusp morphology	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Abnormal pulmonary valve cusp morphology	ORPHA:100082
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Prolonged neonatal jaundice	ORPHA:226313
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni...	OMIM:619334
Tetrasomy 5P	Respiratory distress, Pulmonary arterial hypertension, Cyanosis	ORPHA:3309
Aicardi-Goutieres Syndrome 9	Spastic tetraparesis, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Weight loss, Spastic ...	OMIM:619487
Short-Rib Thoracic Dysplasia 12	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale	OMIM:269860
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect	OMIM:616901
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Focal Dermal Hypoplasia	Patent ductus arteriosus, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:2092
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona...	ORPHA:99106
Chitayat Syndrome	Respiratory distress, Tracheomalacia	OMIM:617180
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Cooper-Jabs Syndrome	Ventricular septal defect	ORPHA:1488
Spondylo-Ocular Syndrome	Ventricular septal defect	ORPHA:85194
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,...	ORPHA:276621
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Cranioectodermal Dysplasia 1	Bicuspid aortic valve	OMIM:218330
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte...	ORPHA:99104
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Cardiomyopathy, Patent ductus arteriosus, Aortic root aneurysm	OMIM:135500
Bronchial Neuroendocrine Tumor	Abnormal pulmonary valve cusp morphology	ORPHA:97287
Attrv30M Amyloidosis	Abnormal autonomic nervous system physiology, Weight loss	ORPHA:85447
Charge Syndrome	Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arterio...	OMIM:214800
Alagille Syndrome	Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis	ORPHA:52
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Mulibrey Nanism	Cachexia	ORPHA:2576
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect, Hypertrophic cardiomyo...	ORPHA:505248
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Perimembranous ventricular septal defect	ORPHA:83617
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	ORPHA:369891
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect	OMIM:615630
Hypophosphatemic Rickets, Autosomal Recessive, 2	Pulmonic stenosis	OMIM:613312
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su...	OMIM:619268
Fanconi Anemia, Complementation Group N	Ventricular septal defect	OMIM:610832
Chromosome 2Q37 Deletion Syndrome	Subvalvular aortic stenosis	OMIM:600430
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect	OMIM:611134
Pelger-Huet Anomaly	Ventricular septal defect	OMIM:169400
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:615879
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Atrial septal defect, Restrictive cardiomyopathy, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:369837
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Jaundice, Neonatal death	OMIM:231680
Pallister-Hall Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	ORPHA:672
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Vater/Vacterl Association	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr...	OMIM:192350
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Costello Syndrome	Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse	ORPHA:3071
Hypercalcemia, Infantile, 1	Lethargy, Failure to thrive, Weight loss	OMIM:143880
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy	OMIM:309801
Acquired Von Willebrand Syndrome	Intracranial hemorrhage, Aortic valve stenosis, Pulmonic stenosis, Gastrointestinal angiodysplasia	ORPHA:99147
Joubert Syndrome 14	Intracranial hemorrhage, Ventricular septal defect	OMIM:614424
Hsd10 Disease, Infantile Type	Cyanosis	ORPHA:391428
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Polyarteritis Nodosa	Polyneuritis, Sensory axonal neuropathy, Weight loss	ORPHA:767
Dyrk1A-Related Intellectual Disability Syndrome	Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect	ORPHA:464306
Eisenmenger Syndrome	Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal heart morpho...	ORPHA:97214
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Patent foramen ovale, Perip...	ORPHA:280633
Noonan Syndrome 4	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:610733
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis, Weight loss	OMIM:613239
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Patent foramen ovale	OMIM:614961
Distal 22Q11.2 Microduplication Syndrome	Patent ductus arteriosus, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:261337
Waardenburg Syndrome Type 3	Tracheomalacia, Acrocyanosis	ORPHA:896
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect	ORPHA:79243
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
D-Glyceric Aciduria	Patent ductus arteriosus	OMIM:220120
Acrofacial Dysostosis 1, Nager Type	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:154400
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Arterial Tortuosity Syndrome	Myocarditis, Pulmonary artery stenosis, Dilated cardiomyopathy, Arterial stenosis, Aortic root an...	ORPHA:3342
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Meester-Loeys Syndrome	Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aorti...	OMIM:300989
X-Linked Intellectual Disability, Armfield Type	Patent ductus arteriosus, Abnormal cardiac septum morphology	ORPHA:85276
Liposarcoma	Paresthesia, Weight loss	ORPHA:69078
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Codas Syndrome	Ventricular septal defect	ORPHA:1458
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Ataxia, Confusion, Cachexia, Optic atrophy, Spasticity	ORPHA:220295
Trichohepatoneurodevelopmental Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:618268
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Right ventricular hypertrophy	OMIM:613404
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ...	ORPHA:261552
Fanconi Anemia	Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aortic valve morphology, A...	ORPHA:84
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Atrial septal defect, Pulmonary artery stenosis, Dilation of Virchow-Robin spaces, Ventricular se...	OMIM:300998
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Nicolaides-Baraitser Syndrome	Coarctation of aorta	OMIM:601358
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Ventricular septal defect	ORPHA:513456
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Myoclonus, Type 1 muscle fiber predominance, Increased variability in muscle fiber diameter, Spas...	OMIM:612949
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor	ORPHA:100050
Moynahan Syndrome	Cachexia	ORPHA:2574
17Q24.2 Microdeletion Syndrome	Patent ductus arteriosus after birth at term, Pulmonic stenosis	ORPHA:529962
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Severe X-Linked Intellectual Disability, Gustavson Type	Ventricular septal defect	ORPHA:3078
Pagod Syndrome	Situs inversus totalis, Pulmonary artery hypoplasia, Abnormal aortic morphology, Hypoplastic left...	ORPHA:991
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Ventricular septal defect	OMIM:617452
Khan-Khan-Katsanis Syndrome	Bilateral superior vena cava with no bridging vein, Patent foramen ovale, Patent ductus arteriosu...	OMIM:618460
Mast Cell Sarcoma	Mastocytosis, Weight loss	ORPHA:66661
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat...	OMIM:220110
Kury-Isidor Syndrome	Ventricular septal defect	OMIM:619762
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ...	ORPHA:466791
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Pancreatic lymphangiectasis, Ventricular septal defect, Pulmonary lymphangiectasia, Thyroid lymph...	OMIM:235255
Odontochondrodysplasia 1	Respiratory distress, Death in infancy	OMIM:184260
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency	ORPHA:367
Adams-Oliver Syndrome 5	Right ventricular hypertrophy, Patent foramen ovale, Pulmonic stenosis, Right atrial enlargement	OMIM:616028
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Patent ductus arteriosus, Patent foramen ovale	ORPHA:457395
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Cachexia, Elbow flexion contracture, Spastic tetraplegia, Knee flexion contractu...	ORPHA:371364
Loeys-Dietz Syndrome 5	Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec...	OMIM:615582
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea	OMIM:619580
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmonary artery sling, Abnormal hear...	ORPHA:261537
Mowat-Wilson Syndrome	Bicuspid aortic valve, Pulmonary artery sling, Patent ductus arteriosus, Abnormal heart morpholog...	ORPHA:2152
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Cerebellar-Facial-Dental Syndrome	Ascending tubular aorta aneurysm, Ventricular septal defect, Mitral valve prolapse	ORPHA:444072
Rhabdoid Tumor	Hemiplegia, Cerebral palsy, Weight loss	ORPHA:69077
Lymphedema-Distichiasis Syndrome	Varicose veins, Patent ductus arteriosus	ORPHA:33001
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Osteopathia Striata With Cranial Sclerosis	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:300373
Wilson Disease	Increased body weight, Weight loss, Clumsiness, Proximal muscle weakness in lower limbs, Difficul...	ORPHA:905
Cockayne Syndrome	Skeletal muscle atrophy, Congenital contracture, Progressive gait ataxia, Hypertonia, Gliosis, In...	ORPHA:191
Mcdonough Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia	ORPHA:2471
Mowat-Wilson Syndrome	Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste...	OMIM:235730
Cerebrocostomandibular Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:117650
Gorlin-Chaudhry-Moss Syndrome	Patent ductus arteriosus	ORPHA:2095
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia	ORPHA:1867
Hirschsprung Disease	Aganglionic megacolon, Failure to thrive in infancy, Weight loss	ORPHA:388
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:102500
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
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Tremor, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Clonus	OMIM:619424
Fanconi Anemia, Complementation Group U	Patent ductus arteriosus	OMIM:617247
Peripheral Primitive Neuroectodermal Tumor	Torticollis, Somatic sensory dysfunction, Weight loss, Lower limb muscle weakness, Abnormal super...	ORPHA:370348
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Ventricular septal defect, Aortic valve stenosis, Mitral stenosis	ORPHA:955
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale	OMIM:616975
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:208085
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Dif...	OMIM:255125
Myopathy With Extrapyramidal Signs	Ventricular septal defect	OMIM:615673
Prader-Willi Syndrome Due To Translocation	Patent ductus arteriosus, Patent foramen ovale, Abnormal heart morphology	ORPHA:177907
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:616897
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:505237
19P13.3 Microduplication Syndrome	Ventricular septal defect	ORPHA:447980
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Neonatal death, Petechiae, Purpura	OMIM:608013
Immunodeficiency 27A	Increased circulating IgG level, Increased circulating IgM level, Weight loss	OMIM:209950
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Patent ductus arteriosus, Patent foramen ovale	OMIM:300990
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:609053
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Rhabdomyolysis, Periodic paralysis, Weight loss	OMIM:188580
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis	OMIM:614407
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Partial absence of cerebellar vermis, Skeletal muscle hypertrophy, Macroglossia, Congenital contr...	OMIM:613150
Feingold Syndrome	Patent ductus arteriosus	ORPHA:1305
Distal 22Q11.2 Microdeletion Syndrome	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Aortic aneurysm	ORPHA:261330
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Loeys-Dietz Syndrome	Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Vascular d...	ORPHA:60030
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress	ORPHA:544503
Diets-Jongmans Syndrome	Interrupted inferior vena cava with azygous continuation, Ventricular septal defect	OMIM:618846
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Ventricular septal defect, Pulmonary artery stenosis, Abnormal aortic arch morphology, Atrial sep...	ORPHA:96334
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea	ORPHA:26793
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Patent ductus arteriosus, Total anomalous pulmonary venous return, Abnormal heart morphology	ORPHA:487796
Fanconi Anemia, Complementation Group D2	Patent ductus arteriosus, Abnormal heart morphology	OMIM:227646
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Hereditary Orotic Aciduria	Patent ductus arteriosus	ORPHA:30
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Hyperimmunoglobulinemia D With Periodic Fever	Urticaria, Erythema, Acrocyanosis, Purpura	ORPHA:343
Ethylene Glycol Poisoning	Tachypnea, Episodic respiratory distress, Cyanosis, Abnormal pattern of respiration	ORPHA:31826
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Progressive neurologic deterioration, Monoclonal elevati...	ORPHA:91139
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,...	ORPHA:29072
Isolated Atp Synthase Deficiency	Respiratory distress	ORPHA:254913
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood	OMIM:620278
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Cough, Acrocyanosis, Pu...	ORPHA:183
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Gm1-Gangliosidosis, Type Ii	Patent ductus arteriosus	OMIM:230600
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef...	OMIM:235510
Follicular Lymphoma	Weight loss	ORPHA:545
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia	ORPHA:93941
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Miscarriage, Nail bed te...	OMIM:187300
Keutel Syndrome	Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Ventricular septal defect, Pul...	OMIM:245150
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia	OMIM:202650
Marshall-Smith Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Dysplastic aortic valve	OMIM:602535
Isolated Permanent Neonatal Diabetes Mellitus	Peripheral axonal neuropathy, Ataxia, Weight loss, Lower-limb joint contracture, Apraxia, Arthrog...	ORPHA:99885
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:620005
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:270450
Pparg-Related Familial Partial Lipodystrophy	Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus...	ORPHA:79083
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus, Ventricular septal defect	ORPHA:434179
Restrictive Dermopathy	Dextrocardia, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Transposition of the gr...	ORPHA:1662
Familial Partial Lipodystrophy, Dunnigan Type	Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size	ORPHA:2348
Thauvin-Robinet-Faivre Syndrome	Varicose veins, Ventricular septal defect, Mitral valve prolapse	OMIM:617107
Neuroendocrine Tumor Of Stomach	Abnormal pulmonary valve cusp morphology	ORPHA:100075
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle hypertrophy, Mus...	OMIM:613327
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension	OMIM:619272
Thyrotoxic Periodic Paralysis	Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Obesity, Tetraplegia, Weight...	ORPHA:79102
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Aymé-Gripp Syndrome	Pericardial effusion, Pericarditis, Patent ductus arteriosus	ORPHA:1272
Moebius Syndrome	Respiratory distress	OMIM:157900
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Turnpenny-Fry Syndrome	Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect, ...	OMIM:618371
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Gait disturbance, Camptodactyly of finger, Cachexia	ORPHA:2774
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Pancreatic lymphangiectasis, Ventricular septal defect, Pulmonary lymphangiectasia	ORPHA:1655
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Patent ductus arteriosus	OMIM:259100
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Short Stature-Micrognathia Syndrome	Ventricular septal defect	OMIM:617164
Autosomal Recessive Robinow Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aortic morphology, Abnor...	ORPHA:1507
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia	ORPHA:96097
Renpenning Syndrome	Skeletal muscle atrophy, Cachexia	ORPHA:3242
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Hypertonia, Cachexia	ORPHA:1389
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Atrial septal defect, Patent ductus arteriosus	OMIM:213980
Neu-Laxova Syndrome 1	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Transposition of the g...	OMIM:256520
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth	OMIM:151210
Mirage Syndrome	Intracranial hemorrhage, Patent ductus arteriosus	OMIM:617053
Trichohepatoenteric Syndrome 1	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:222470
1P36 Deletion Syndrome	Aortic arch aneurysm, Abnormal heart valve morphology, Patent ductus arteriosus, Dilated cardiomy...	ORPHA:1606
Acquired Hypertrichosis Lanuginosa	Macroglossia, Weight loss	ORPHA:2221
Polymyositis	Weight loss, Gait disturbance, Abnormal muscle fiber morphology	ORPHA:732
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Patent ductus arteriosus, Thoracic aortic aneurysm	OMIM:619351
Pfapa Syndrome	Weight loss	ORPHA:42642
Cutis Marmorata Telangiectatica Congenita	Arteriovenous malformation, Patent ductus arteriosus, Arterial stenosis	ORPHA:1556
19P13.12 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:254346
Thymic Carcinoma	Diaphragmatic paralysis, Weight loss	ORPHA:99868
Meckel Syndrome 14	Cyanosis, Pneumothorax, Cardiorespiratory arrest	OMIM:619879
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Cyanosis, Apnea	OMIM:261740
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplastic aortic arch	ORPHA:457284
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Pulmonic sten...	OMIM:616268
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Cerebral atrophy, Weight loss, T...	OMIM:615846
Aicardi-Goutieres Syndrome 1	Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Zttk Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:617140
19Q13.11 Microdeletion Syndrome	Ventricular septal defect	ORPHA:217346
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta...	OMIM:610655
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress	OMIM:619383
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:619575
Gaucher Disease, Type Ii	Double aortic arch	OMIM:230900
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Flexion contracture, Cachexia, Weight loss	ORPHA:1979
Celiac Disease, Susceptibility To, 1	Failure to thrive, Ataxia, Decreased circulating IgA level, Weight loss	OMIM:212750
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect, Left superior vena cava draining to coronary sinus	ORPHA:464738
Distal Deletion 12Q	Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Patent foramen ovale	ORPHA:96149
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Abnormal internal carotid artery morphology, Peripheral arterial sten...	ORPHA:391665
Poems Syndrome	Papilledema, Weight loss, Increased circulating antibody level, Paresthesia, Hyperesthesia	ORPHA:2905
Duane-Radial Ray Syndrome	Atrial septal defect, Ventricular septal defect, Vascular dilatation	OMIM:607323
Tetrasomy 9P	Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Abnormal cardiac septum morphol...	ORPHA:3310
Leishmaniasis	Increased circulating antibody level, Weight loss	ORPHA:507
Orofaciodigital Syndrome Xiv	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615948
Riddle Syndrome	Ataxia, Clumsiness, Weight loss, Decreased circulating total IgM, Gait disturbance, Poor hand-eye...	ORPHA:420741
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Patent ductus arteriosus, Aortic rupture	OMIM:614557
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure	OMIM:252010
X-Linked Agammaglobulinemia	Agammaglobulinemia, Failure to thrive, Weight loss	ORPHA:47
Biliary, Renal, Neurologic, And Skeletal Syndrome	Pulmonary artery dilatation, Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inve...	OMIM:619534
Larsen Syndrome	Atrial septal defect, Ventricular septal defect, Aortic aneurysm	OMIM:150250
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Atrial septal defect, Patent ductus arteriosus	OMIM:300868
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Proboscis Lateralis	Patent ductus arteriosus, Ventricular septal defect	ORPHA:141099
Beta-Ketothiolase Deficiency	Spasticity, Ataxia, Extrapyramidal dyskinesia, Weight loss	ORPHA:134
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
Myasthenia Gravis	Dyspnea, Acrocyanosis	ORPHA:589
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Acrofacial Dysostosis, Cincinnati Type	Patent ductus arteriosus	OMIM:616462
Radio-Tartaglia Syndrome	Ventricular septal defect	OMIM:619312
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616449
Degcags Syndrome	Ventricular septal defect, Patent ductus arteriosus, Persistent left superior vena cava, Pulmonic...	OMIM:619488
Diaphanospondylodysostosis	Respiratory distress, Tracheomalacia, Respiratory insufficiency	OMIM:608022
Cranioectodermal Dysplasia 2	Atrial septal defect, Patent ductus arteriosus, Left ventricular hypertrophy, Patent foramen ovale	OMIM:613610
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Ventricular septal defect	OMIM:617360
Smith-Lemli-Opitz Syndrome	Atrial septal defect, Atrioventricular canal defect, Patent ductus arteriosus, Ventricular septal...	ORPHA:818
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodeg...	ORPHA:803
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Hyperparathyroidism, Transient Neonatal	Patent ductus arteriosus, Stroke	OMIM:618188
Takayasu Arteritis	Weight loss	ORPHA:3287
Marfan Syndrome	Mitral valve calcification, Descending aortic dissection, Dilatation of an abdominal artery, Mitr...	ORPHA:558
Mucopolysaccharidosis Type 2	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi...	ORPHA:580
3Q29 Microduplication Syndrome	Ventricular septal defect	ORPHA:251038
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect	OMIM:615503
Kniest Dysplasia	Respiratory distress, Tracheomalacia	OMIM:156550
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Alveolar Echinococcosis	Ataxia, Weight loss, Hemiparesis, Abnormal skeletal muscle morphology, Increased circulating anti...	ORPHA:284
Wild Type Attr Amyloidosis	Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens...	ORPHA:330001
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect	OMIM:612530
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress	ORPHA:329178
Omodysplasia 1	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	OMIM:258315
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Spastic hemiparesis, Weight loss, Myoclonus, Lethargy, Spasticity	ORPHA:20
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Varicose veins, Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prol...	ORPHA:500095
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Cerebellar vermis hypoplasia, Muscular dystrophy,...	OMIM:616538
Holoprosencephaly	Tetralogy of Fallot, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aor...	ORPHA:2162
Whipple Disease	Myositis, Ataxia, Cachexia, Abnormal pyramidal sign, Myoclonus	ORPHA:3452
Pallister-Killian Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Aortic valve stenosis,...	OMIM:601803
Carpenter Syndrome 2	Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri...	OMIM:614976
Thymic Neuroendocrine Tumor	Weight loss, Carcinoid tumor, Pancreatic islet cell adenoma, Neuroendocrine neoplasm	ORPHA:97289
Watson Syndrome	Pulmonic stenosis	OMIM:193520
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, Jaundice	OMIM:617156
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood	OMIM:613848
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261236
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Weight loss	ORPHA:3226
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Camptodactyly of finger, Cachexia, Tremor, Obesity	ORPHA:85293
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia	ORPHA:1438
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress	ORPHA:990
Native American Myopathy	Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber size, Congenital...	ORPHA:168572
Donnai-Barrow Syndrome	Ventricular septal defect	OMIM:222448
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Apert Syndrome	Overriding aorta, Ventricular septal defect	OMIM:101200
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Weaver Syndrome	Patent ductus arteriosus	OMIM:277590
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Ecchymosis, Purpura	ORPHA:319213
Microlissencephaly-Micromelia Syndrome	Respiratory distress	ORPHA:50810
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi...	ORPHA:217085
Townes-Brocks Syndrome	Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology...	ORPHA:857
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:614947
9Q33.3Q34.11 Microdeletion Syndrome	Patent ductus arteriosus	ORPHA:495818
Renal Agenesis	Ventricular septal defect	ORPHA:411709
Zellweger Syndrome	Ventricular septal defect	ORPHA:912
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Achondroplasia	Respiratory distress, Death in infancy, Upper airway obstruction	OMIM:100800
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter	OMIM:619173
Goodpasture Syndrome	Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ...	OMIM:233450
Majeed Syndrome	Failure to thrive, Flexion contracture, Cachexia, Weight loss	ORPHA:77297
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Ecchymosis	ORPHA:36234
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi...	ORPHA:217093
Congenital Tufting Enteropathy	Failure to thrive, Optic disc coloboma, Weight loss	ORPHA:92050
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai...	ORPHA:209905
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Liver Disease, Severe Congenital	Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c...	OMIM:619991
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Kasabach-Merritt Syndrome	Respiratory distress, Petechiae, Hypopnea, Purpura	ORPHA:2330
2Q37 Microdeletion Syndrome	Abnormal aortic morphology	ORPHA:1001
Lateral Meningocele Syndrome	Ventricular septal defect	ORPHA:2789
Kaposi Sarcoma	Weight loss	ORPHA:33276
Aggressive Systemic Mastocytosis	Increased proportion of CD25+ mast cells, Abnormal mast cell morphology, Weight loss	ORPHA:98850
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy	OMIM:616720
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Weight loss	ORPHA:2902
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Alg9-Cdg	Ventricular septal defect, Pericardial effusion, Abnormal heart morphology, Right ventricular dil...	ORPHA:79328
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea	ORPHA:79330
Osteosarcoma	Weight loss	ORPHA:668
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect	OMIM:272950
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ventricular septal defect	OMIM:243150
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis	ORPHA:268943
African Trypanosomiasis	Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,...	ORPHA:3385
Erdheim-Chester Disease	Abnormal cerebellum morphology, Ataxia, Weight loss	ORPHA:35687
Simpson-Golabi-Behmel Syndrome, Type 1	Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Total anomalous pulmonary ve...	OMIM:312870
Chronic Beryllium Disease	Weight loss	ORPHA:133
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Ventricular septal defect	OMIM:619306
Symptomatic Form Of Hfe-Related Hemochromatosis	Lethargy, Decreased muscle mass, Weight loss	ORPHA:465508
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:134780
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax	OMIM:620306
Tarp Syndrome	Cyanosis, Apnea	ORPHA:2886
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect	OMIM:178110
Medullary Thyroid Carcinoma	Pheochromocytoma, Weight loss	ORPHA:1332
Behçet Disease	Myositis, Ataxia, Confusion, Abnormal pyramidal sign, Weight loss, Hemiparesis, Paresthesia, Gait...	ORPHA:117
Histiocytoid Cardiomyopathy	Stroke-like episode, Ventricular septal defect, Cardiomegaly	ORPHA:137675
Coffin-Siris Syndrome 1	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:135900
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Cutis marmorata, Pulmonary embolism, Dyspnea, Asthma, Angioedema, Urticaria...	ORPHA:3260
Glycogen Storage Disease Vii	Increased muscle glycogen content, Increased variability in muscle fiber diameter	OMIM:232800
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Secondary Short Bowel Syndrome	Failure to thrive, Aganglionic megacolon, Weight loss	ORPHA:95427
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Recurrent pneumonia	OMIM:616271
Fucosidosis	Acrocyanosis, Vascular skin abnormality	ORPHA:349
Primary Intestinal Lymphangiectasia	Decreased circulating antibody level, Weight loss, Decreased circulating total IgM, Decreased cir...	ORPHA:90362
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Biotinidase Deficiency	Respiratory distress, Apnea, Hyperventilation	ORPHA:79241
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Hand tremor, Weight loss	ORPHA:424
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Patent ductus arteriosus	OMIM:616300
Bullous Pemphigoid	Weight loss	ORPHA:703
Cap Polyposis	Weight loss	ORPHA:160148
Cohen Syndrome	Ventricular septal defect, Mitral valve prolapse	ORPHA:193
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Weight loss	ORPHA:90003
Mosaic Trisomy 20	Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect	ORPHA:1724
Bohring-Opitz Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:605039
Rheumatoid Arthritis	Digital flexor tenosynovitis, Weight loss	OMIM:180300
Chromosome 16P13.3 Duplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:613458
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration	OMIM:618733
Al Amyloidosis	Weight loss, Macroglossia, Increased circulating antibody level, Abnormal autonomic nervous syste...	ORPHA:85443
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Tetrasomy 12P	Cachexia	ORPHA:884
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea, Flushing	ORPHA:2131
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619522
Loeffler Endocarditis	Left ventricular hypertrophy, Weight loss	ORPHA:75566
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Restrictive Dermopathy 1	Atrial septal defect, Patent ductus arteriosus	OMIM:275210
Q Fever	Respiratory distress, Pneumonia, Cough, Pleural effusion, Purpura	ORPHA:781
Intellectual Developmental Disorder, Autosomal Dominant 68	Patent ductus arteriosus	OMIM:619934
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect	OMIM:183900
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:607721
Doors Syndrome	Double outlet right ventricle	ORPHA:79500
Farber Disease	Respiratory distress, Respiratory insufficiency	ORPHA:333
Japanese Encephalitis	Respiratory distress, Respiratory paralysis, Abnormal pattern of respiration, Irregular respiration	ORPHA:79139
Renpenning Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis	OMIM:309500
Acrodermatitis Enteropathica	Failure to thrive, Cerebral cortical atrophy, Weight loss	ORPHA:37
Toxic Epidermal Necrolysis	Respiratory distress, Restrictive ventilatory defect, Erythema, Cough	ORPHA:537
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Respiratory insufficiency, Restrictive ventilatory...	ORPHA:536467
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Failure to thrive, Hypoplasia of the musculature, Ankle flexion contracture, Fle...	ORPHA:2020
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress	OMIM:612852
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu...	ORPHA:340
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion	ORPHA:1546
Leopard Syndrome 1	Complete atrioventricular canal defect, Mitral valve prolapse, Pulmonic stenosis, Subvalvular aor...	OMIM:151100
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Patent ductus arteriosus	ORPHA:2282
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Acrocyanosis, Decreased sensitivity to hypoxemia	OMIM:223900
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect	OMIM:600373
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Paresthesia, Cachexia	OMIM:175500
Opitz Gbbb Syndrome	Ventricular septal defect	OMIM:300000
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss	ORPHA:171876
Alport Syndrome	Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology	ORPHA:63
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress	ORPHA:1555
Felty Syndrome	Bone marrow hypocellularity, Weight loss	ORPHA:47612
Trisomy 18	Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Chiari malformation, Hyperton...	ORPHA:3380
Tbck-Related Intellectual Disability Syndrome	Ventricular septal defect, Pulmonic stenosis	ORPHA:488632
Knobloch Syndrome 2	Patent ductus arteriosus	OMIM:618458
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia	ORPHA:93260
Camurati-Engelmann Disease	Waddling gait, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Optic atrophy, Optic nerv...	ORPHA:1328
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Atrial septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Ventricula...	ORPHA:459070
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect	OMIM:614653
Mucolipidosis Type Ii	Hip contracture, Diastasis recti, Inability to walk, Knee flexion contracture, Weight loss, Cogni...	ORPHA:576
Thymoma	Decreased circulating antibody level, Myositis, Weight loss	ORPHA:99867
Chilton-Okur-Chung Neurodevelopmental Syndrome	Patent ductus arteriosus, Patent foramen ovale	OMIM:619841
Xfe Progeroid Syndrome	Poor coordination, Failure to thrive, Optic atrophy, Cachexia	OMIM:610965
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Cachexia, Skeletal muscle...	ORPHA:800
Yao Syndrome	Weight loss	OMIM:617321
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect	ORPHA:251028
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Palmoplantar cutis laxa	OMIM:123790
Cocaine Intoxication	Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation	ORPHA:90068
Cystic Echinococcosis	Increased circulating antibody level, Abnormality of the diaphragm, Weight loss	ORPHA:400
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Coron...	ORPHA:51608
Multiple Myeloma	Increased circulating IgA level, Decreased circulating antibody level, Weight loss, Increased cir...	ORPHA:29073
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo...	OMIM:616503
Den Hoed-De Boer-Voisin Syndrome	Ventricular septal defect	OMIM:619229
Costello Syndrome	Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial septal defect, Hypert...	OMIM:218040
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Goldberg-Shprintzen Syndrome	Ventricular septal defect	OMIM:609460
Multiple Endocrine Neoplasia Type 1	Short attention span, Confusion, Pancreatic endocrine tumor, Cranial nerve compression, Insulinom...	ORPHA:652
Ulnar-Mammary Syndrome	Ventricular septal defect	ORPHA:3138
Late-Onset Isolated Acth Deficiency	Lethargy, Orthostatic hypotension, Failure to thrive, Weight loss	ORPHA:199299
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Urticaria, Interstitial pneumonitis, Pneumonia	ORPHA:37042
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in...	ORPHA:365
Peters-Plus Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:261540
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure	ORPHA:533
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Transient ischemic attack, Patent ductus arteriosus after birth at term, Abnormal heart morpholog...	ORPHA:500150
Primary Hepatic Neuroendocrine Carcinoma	Weight loss, Carcinoid tumor, Neuroendocrine neoplasm	ORPHA:100085
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary arterial hypertension, Jaundice, Pulmonary embolism	ORPHA:79282
Eosinophilic Gastroenteritis	Weight loss	ORPHA:2070
Silver-Russell Syndrome	Decreased muscle mass, Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect	OMIM:301044
Nephroblastoma	Weight loss	ORPHA:654
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:256810
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Patent ductus arteriosus	ORPHA:1112
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress	OMIM:260400
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:251014
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Rabson-Mendenhall Syndrome	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:769
Congenital Disorder Of Glycosylation, Type Iiw	Tetralogy of Fallot, Ventricular septal defect	OMIM:619525
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest	ORPHA:293987
Aredyld Syndrome	Cachexia	ORPHA:1133
Pemphigus Vulgaris	Weight loss	ORPHA:704
Cerebrocostomandibular Syndrome	Ventricular septal defect	ORPHA:1393
Malignant Atrophic Papulosis	Pain insensitivity, Weight loss	ORPHA:679
Treacher-Collins Syndrome	Patent ductus arteriosus	ORPHA:861
Sotos Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def...	ORPHA:821
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles	OMIM:305100
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Pitt-Hopkins Syndrome	Acrocyanosis, Abnormal pattern of respiration, Hyperventilation	ORPHA:2896
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Pleural effusion	OMIM:620369
Fanconi Anemia, Complementation Group C	Ventricular septal defect	OMIM:227645
Ménétrier Disease	Weight loss	ORPHA:2494
Short Syndrome	Weight loss	ORPHA:3163
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Familial Glucocorticoid Deficiency	Failure to thrive, Tetraplegia, Weight loss	ORPHA:361
Carney-Stratakis Syndrome	Paraganglioma, Weight loss	ORPHA:97286
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Leigh Syndrome	Hypertrophic cardiomyopathy, Ventricular septal defect	ORPHA:506
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus	ORPHA:480880
Wolman Disease	Cachexia	ORPHA:75233
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin	ORPHA:79404
Familial Thrombocytosis	Paresthesia, Weight loss	ORPHA:71493
Marden-Walker Syndrome	Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th...	ORPHA:2461
Meier-Gorlin Syndrome 7	Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect	OMIM:617063
3-Methylglutaconic Aciduria, Type Viii	Patent ductus arteriosus	OMIM:617248
Refractory Celiac Disease	Weight loss	ORPHA:398063
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Emphysema	OMIM:224690
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Ventricular septal defect	OMIM:263520
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic...	OMIM:143095
Jacobsen Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:147791
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A...	ORPHA:363700
Hereditary Amyloidosis With Primary Renal Involvement	Myopathy, Weight loss	ORPHA:85450
Microphthalmia, Syndromic 1	Bicuspid aortic valve	OMIM:309800
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Fragile skin	OMIM:614748
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Renal artery stenosis, Atrial septal def...	ORPHA:3472
Lysosomal Acid Lipase Deficiency	Psychomotor deterioration, Cachexia, Weight loss, Cognitive impairment, Failure to thrive	ORPHA:275761
Acute Promyelocytic Leukemia	Weight loss	ORPHA:520
Oculodentodigital Dysplasia	Ventricular septal defect	ORPHA:2710
Roberts-Sc Phocomelia Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:268300
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation	ORPHA:255210
Peroxisome Biogenesis Disorder 5A (Zellweger)	Atrial septal defect, Ventricular septal defect	OMIM:614866
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper...	ORPHA:740
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Dermatomyositis	Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial...	ORPHA:221
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss	ORPHA:79128
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Broad-based gait, Cachexia, Paralysis, Spastic paraplegia, Limb ataxia, Hypertonia, ...	ORPHA:2072
Primary Myelofibrosis	Cachexia	ORPHA:824
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Glioma, Cachexia, Rhabdomyosarcoma, Attention deficit hyperactivity diso...	ORPHA:647
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Cystinosis, Nephropathic	Skeletal muscle atrophy, Failure to thrive in infancy, Progressive neurologic deterioration, Cere...	OMIM:219800
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Increased circulating IgA level, Increased body weight, Weight loss, ...	ORPHA:2298
Okamoto Syndrome	Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor...	ORPHA:2729
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect	ORPHA:436252
Trichothiodystrophy	Cardiomyopathy, Ventricular septal defect	ORPHA:33364
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Brucellosis	Small for gestational age, Abnormality of the peripheral nervous system, Chorea, Weight loss, Inc...	ORPHA:1304
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Weight loss, Increas...	ORPHA:79078
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2554
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Adnp Syndrome	Respiratory distress, Aspiration	ORPHA:404448
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Ventricular septal defect	OMIM:619418
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale	OMIM:613884
Cohen-Gibson Syndrome	Patent ductus arteriosus	OMIM:617561
Coccidioidomycosis	Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion	ORPHA:228123
Wiedemann-Rautenstrauch Syndrome	Prominent scalp veins, Congenital malformation of the left heart, Dysplastic pulmonary valve, Pul...	ORPHA:3455
Systemic Mastocytosis With Associated Hematologic Neoplasm	Abnormal mast cell morphology, Weight loss	ORPHA:98849
Drug Reaction With Eosinophilia And Systemic Symptoms	Weight loss	ORPHA:139402
Knobloch Syndrome 1	Patent ductus arteriosus	OMIM:267750
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Tracheomalacia, Tracheobronc...	OMIM:114290
Osteootohepatoenteric Syndrome	Failure to thrive, Weight loss	OMIM:619377
Gallbladder Neuroendocrine Tumor	Neuroendocrine neoplasm, Weight loss	ORPHA:100086
Limb Body Wall Complex	Atrial septal defect, Ectopia cordis, Ventricular septal defect, Abnormal heart morphology	ORPHA:2369
Seckel Syndrome	Cachexia, Cognitive impairment	ORPHA:808
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:608670
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Glycogen Storage Disease Xii	Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting	OMIM:611881
Familial Dysautonomia	Acrocyanosis	ORPHA:1764
Renal Nutcracker Syndrome	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	ORPHA:71273
Juvenile Dermatomyositis	Calcinosis, Myositis, Weight loss	ORPHA:93672
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal h...	ORPHA:268261
Igg4-Related Kidney Disease	Pericarditis, Abnormal aortic morphology, Arteritis	ORPHA:449395
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata	OMIM:259900
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Erythema	ORPHA:2556
Townes-Brocks Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:107480
Cornelia De Lange Syndrome 1	Ventricular septal defect	OMIM:122470
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis	ORPHA:48435
Acute Adrenal Insufficiency	Orthostatic hypotension, Failure to thrive, Weight loss	ORPHA:95409
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic endocrine tumor, Increased body weight, Pulmonary carcinoid tumor, Proximal amyotrophy...	ORPHA:99889
Congenital Disorder Of Deglycosylation 1	Respiratory distress	OMIM:615273
Reactive Arthritis	Cognitive impairment, Weight loss	ORPHA:29207
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:109
Tuberous Sclerosis Complex	Respiratory distress, Respiratory failure, Generalized abnormality of skin	ORPHA:805
Early Infantile Epileptic Encephalopathy	Ventricular septal defect	ORPHA:1934
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Cachexia	ORPHA:3217
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Polycythemia Vera	Weight loss	ORPHA:729
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Klatskin Tumor	Weight loss	ORPHA:99978
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co...	ORPHA:95455
Norrie Disease	Clonus, Cachexia, Optic atrophy, Hypertonia, Attention deficit hyperactivity disorder, Aplasia/Hy...	ORPHA:649
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis, Weight loss	ORPHA:91347
Fryns Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:229850
Lacrimoauriculodentodigital Syndrome	Patent ductus arteriosus	ORPHA:2363
Leptospirosis	Respiratory distress, Pleural effusion, Jaundice, Cough	ORPHA:509
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea	ORPHA:3206
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Nasal flaring	ORPHA:466943
Primary Hyperoxaluria	Acrocyanosis, Cutis marmorata	ORPHA:416
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Increased circulating antibody level, Optic neuropathy, Weight ...	OMIM:181000
Pyomyositis	Myositis, Weight loss	ORPHA:764
Immunodeficiency 31C	Skeletal muscle atrophy, Weight loss	OMIM:614162
Primary Sclerosing Cholangitis	Polyclonal elevation of IgM, Generalized amyotrophy, Weight loss	ORPHA:171
Simpson-Golabi-Behmel Syndrome	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:373
Ileal Neuroendocrine Tumor	Small intestine carcinoid, Weight loss	ORPHA:100078
Anemia, Congenital Dyserythropoietic, Type Iv	Weight loss	OMIM:613673
Proximal Renal Tubular Acidosis	Subvalvular aortic stenosis	ORPHA:47159
Zollinger-Ellison Syndrome	Weight loss, Neuroendocrine neoplasm, Glucagonoma	ORPHA:913
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Penile Agenesis	Atrial septal defect, Ventricular septal defect	ORPHA:49
Aicardi-Goutières Syndrome	Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice	ORPHA:51
Kikuchi-Fujimoto Disease	Ataxia, Weight loss	ORPHA:50918
Igg4-Related Retroperitoneal Fibrosis	Weight loss	ORPHA:49041
Caroli Disease	Weight loss	ORPHA:53035
Ppoma	Intestinal carcinoid, Weight loss	ORPHA:97278
Microsporidiosis	Myositis, Cachexia, Weight loss	ORPHA:2552
Schinzel-Giedion Syndrome	Respiratory distress, Recurrent pneumonia	ORPHA:798
Grfoma	Pheochromocytoma, Intestinal carcinoid, Weight loss	ORPHA:97261
Rat-Bite Fever	Tendonitis, Weight loss	ORPHA:31205
Hermansky-Pudlak Syndrome	Weight loss	ORPHA:79430
Stevens-Johnson Syndrome	Weight loss	ORPHA:36426
Addison Disease	Orthostatic hypotension, Failure to thrive, Weight loss	ORPHA:85138
Vipoma	Ganglioneuroma, Weight loss	ORPHA:97282
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Cachexia	ORPHA:1969
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Flexion contracture, Weight loss	ORPHA:85408
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising...	ORPHA:287
Castleman Disease	Weight loss	ORPHA:160
Gitelman Syndrome	Respiratory distress	ORPHA:358
Hydrolethalus Syndrome 1	Complete atrioventricular canal defect, Ventricular septal defect	OMIM:236680
Johanson-Blizzard Syndrome	Ventricular septal defect, Situs inversus totalis, Dilated cardiomyopathy, Atrial septal defect, ...	OMIM:243800
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Granulomatosis With Polyangiitis	Hemiplegia, Weight loss	ORPHA:900
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Ulnar-Mammary Syndrome	Ventricular septal defect	OMIM:181450
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Increased circulating IgG level, Increased circulating antibody level, Weight loss	ORPHA:91500
Pancreatoblastoma	Weight loss	ORPHA:677
Tropical Pancreatitis	Weight loss	ORPHA:103918
Wolf-Hirschhorn Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:194190
Malt Lymphoma	Weight loss	ORPHA:52417
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect	OMIM:620330
Somatostatinoma	Weight loss	ORPHA:97283
Parathyroid Carcinoma	Weight loss	ORPHA:143
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG...	OMIM:619381
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax	ORPHA:3404
Stickler Syndrome	Skeletal muscle atrophy, Cachexia, Hemiplegia/hemiparesis, Macroglossia, Slender build	ORPHA:828
Genitopatellar Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:606170
Coffin-Lowry Syndrome	Acrocyanosis, Cutis marmorata	OMIM:303600
Glucagonoma	Weight loss	ORPHA:97280
Hypermobile Ehlers-Danlos Syndrome	Acrocyanosis, Apnea	ORPHA:285
Yunis-Varon Syndrome	Cardiomyopathy, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale	OMIM:216340
Cornelia De Lange Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:199
Plague	Respiratory distress, Acute infectious pneumonia	ORPHA:707
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Sarcoidosis	Facial palsy, Weight loss	ORPHA:797
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Failure to thrive, Weight loss	ORPHA:90794
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Chronic Graft Versus Host Disease	Flexion contracture, Weight loss	ORPHA:99921
Proteus Syndrome	Myofibrillar myopathy, Decreased muscle mass, Cachexia	ORPHA:744
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Recurrent pneumonia	ORPHA:99646
Tropical Endomyocardial Fibrosis	Cachexia, Myocardial calcification	ORPHA:75565
Alström Syndrome	Respiratory distress, Dorsocervical fat pad, Chronic pulmonary obstruction, Recurrent pneumonia, ...	ORPHA:64
Pmm2-Cdg	Respiratory distress, Abnormal subcutaneous fat tissue distribution, Aspiration pneumonia	ORPHA:79318

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 Matr3

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 Matr3.

No publications found that use IMPC mice or data for Matr3.

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Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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