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Gene: Ntf3 MGI:97380

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
neurotrophin 3
Synonyms:
NT-3,  Ntf-3,  NT3

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 Ntf3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ntf3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Myxoma, Intracardiac
Cardiac myxoma, Pulmonic valve myxoma, Bacterial endocarditis OMIM:255960
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... OMIM:185500
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Abnormal le... ORPHA:2041
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia, Pulmonar... OMIM:106700
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Striatonigral Degeneration, Infantile
Dystonia, Optic atrophy, Choreoathetosis, Dysphagia, Spasticity OMIM:271930
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilat... ORPHA:563
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Scimitar Syndrome
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ... ORPHA:185
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Leber Optic Atrophy And Dystonia
Skeletal muscle atrophy, Optic atrophy, Dysphagia, Bradykinesia, Athetosis, Dystonia, Spasticity,... OMIM:500001
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Failure to thrive in infancy,... ORPHA:477817
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respir... OMIM:619170
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... OMIM:614823
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... OMIM:115197
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmonary insufficiency, Pulmonic stenosis OMIM:619433
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Abnormal lung lobation, Atrial sep... OMIM:265380
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Dystonia 31
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Abnormal posturing, Craniofacia... OMIM:619565
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Abnormal pulmonary i... ORPHA:330001
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Congenital Gerbode Defect
Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf... ORPHA:99095
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Atrial Standstill
Ventricular escape rhythm, Skeletal muscle atrophy, Cardiac conduction abnormality, Atrial stands... ORPHA:1344
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, S... ORPHA:75249
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septa... ORPHA:980
Sarcosinemia
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Optic atrophy, Pulmonic stenosis ORPHA:3129
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... DECIPHER:29
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal lung lobation,... ORPHA:1120
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Myopathy, Myofibrillar, 1
Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, EMG: myop... OMIM:601419
Myoclonus, Intractable, Neonatal
Optic disc pallor, Chorea, Athetosis, Myoclonus, Dysphagia, Increased variability in muscle fiber... OMIM:617235
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... ORPHA:98890
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... OMIM:619657
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ... OMIM:616276
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Abnormal bleeding, Pulmona... ORPHA:57777
Diamond-Blackfan Anemia 20
Total anomalous pulmonary venous return OMIM:618313
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Involuntary movements, Babinski sign, Optic atrophy, Dysphagia, Clumsiness, Athetosis, Di... OMIM:271245
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... ORPHA:422
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Dysphagia, Gait ataxia, Upp... ORPHA:225154
Ethanolaminosis
Death in infancy, Cardiomegaly OMIM:227150
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... OMIM:620135
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Abnormal he... ORPHA:2257
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... OMIM:253700
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Pleural effusion, A... OMIM:614702
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Severe failure to thrive, Pulmonic stenosis, Atrial s... ORPHA:3304
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... ORPHA:401935
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Transient ischemic attack, Pne... ORPHA:99104
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Leukodystrophy, Hypomyelinating, 21
Ataxia, Optic atrophy, Athetosis, Tetraparesis, Dystonia OMIM:619310
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Secundum atrial septal defect, Coarctation of aorta, Prolonged prothromb... OMIM:614300
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... ORPHA:555874
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... OMIM:601927
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... OMIM:615382
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... OMIM:614302
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Restlessness, Ataxia, Inability to walk, Ragged-red muscle fibers, Athetosis, Abnormality of extr... OMIM:615159
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Mast Syndrome
Incoordination, Babinski sign, Spastic paraplegia, Dysphagia, Athetosis, Dysdiadochokinesis, Hype... OMIM:248900
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal defect, Congestive... OMIM:616866
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Small for gestational age, Nonimmune hydrops fetalis... OMIM:617021
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con... OMIM:600884
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... ORPHA:228410
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... ORPHA:99103
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... OMIM:606353
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Limb joint contracture, Ataxia, Involuntary movements, Rigidity, Chorea, Babin... OMIM:617282
Hsd10 Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Dysphagia, Choreoathetosis, Gait disturbance, Myoclonus,... ORPHA:391417
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo... OMIM:265450
Double Outlet Right Ventricle
Tachycardia, Failure to thrive, Ventricular septal defect, Tachypnea, Double outlet right ventric... ORPHA:3426
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Noonan Syndrome 8
Failure to thrive, Ventricular septal defect, Polyhydramnios, Large for gestational age, Patent d... OMIM:615355
3-Methylglutaconic Aciduria, Type I
Ataxia, Optic atrophy, Spastic tetraplegia, Athetosis, Dystonia, Spasticity, Self-mutilation OMIM:250950
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Type 1 muscle fiber... OMIM:617519
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Patent ductus arteri... OMIM:612863
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect ORPHA:2516
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athet... ORPHA:280219
Pseudo-Torch Syndrome 2
Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorrhage, Secundum atrial septal de... OMIM:617397
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Apnea, Ventricular septal defect, Respiratory failure, Bradycardia, Hypertrophi... OMIM:616277
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Apnea, Congestive heart failure, Bradycardia, Left ventric... OMIM:619048
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Stroke-like episode, Cardiomyopathy, Abnormal autonomic nervous system physiology, ... OMIM:105210
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,... OMIM:500003
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Respiratory i... OMIM:619909
Mogs-Cdg
Respiratory distress, Hepatomegaly, Absent brainstem auditory responses, Hypoventilation, Apnea, ... ORPHA:79330
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Mitochondrial Complex I Deficiency, Nuclear Type 19
Rigidity, Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Myoclonus, Loss of ambul... OMIM:618241
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... ORPHA:206594
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... OMIM:608978
Microphthalmia, Syndromic 9
Ventricular septal defect, Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Patent... OMIM:601186
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta... OMIM:600987
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Pulmonary fibrosis OMIM:611926
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... OMIM:601005
Verheij Syndrome
Small for gestational age, Truncus arteriosus, Ventricular septal defect, Optic nerve hypoplasia OMIM:615583
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... ORPHA:101016
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... ORPHA:244
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Abnormal pulmonary valve morphology, Pulmonic stenosis, Large for gestati... ORPHA:137634
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten... OMIM:179613
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Optic atrophy, Bruxism, Dysphagia, Choreoathetosis, Death in childhood, Dystonia,... OMIM:619422
Leukodystrophy, Hypomyelinating, 16
Optic disc pallor, Broad-based gait, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Choreoathet... OMIM:617964
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Abnormal optic disc morphology, Ventricular septal ... OMIM:617516
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Abnormal lung lobati... ORPHA:3097
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vascular... ORPHA:3287
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Death in infancy, Edema, Patent ductus arteriosus, Ascites, Perimembranous ventricu... OMIM:608104
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ... ORPHA:247604
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Respiratory... OMIM:253300
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop... ORPHA:2299
Emanuel Syndrome
Recurrent respiratory infections, Torticollis, Ventricular septal defect, Truncus arteriosus, Con... OMIM:609029
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... OMIM:212093
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
Spinocerebellar Ataxia Type 23
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... ORPHA:101108
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Optic atrophy, Myoclonus OMIM:609056
Leukodystrophy, Hypomyelinating, 15
Ataxia, Optic atrophy, Abnormal pyramidal sign, Dysphagia, Athetosis, Dystonia, Loss of ambulatio... OMIM:617951
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Torsion dyston... ORPHA:98811
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... ORPHA:98810
Epilepsy, Progressive Myoclonic, 8
Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, Gait disturbance, Myo... OMIM:616230
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... OMIM:617270
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega... ORPHA:2414
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
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... ORPHA:615
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... ORPHA:1600
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Spina bifida occulta, Perimembranous ventricular septal defect, Transposition of the great arteri... OMIM:617877
Marfan Syndrome
Pulmonary artery dilatation, Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pne... ORPHA:558
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis, Dysphagia OMIM:118800
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy OMIM:619121
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Abnormal lung lobation, Stillbirth, Aor... OMIM:615415
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Death in infancy, Apnea, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy, ... OMIM:618235
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Dystonia, Ataxia, Facial palsy, Rigidity, Head titubat... OMIM:608804
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata... OMIM:619705
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Dy... ORPHA:199241
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Death in infancy, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardia, Hype... OMIM:618815
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... OMIM:614096
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Paroxysmal lethargy, Choreoathetosis, Hemi... OMIM:606777
Lethal Congenital Contracture Syndrome 8
Death in infancy, Oral-pharyngeal dysphagia, Flexion contracture, Vocal cord paralysis, Distal se... OMIM:616287
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... OMIM:609008
Infantile Cerebellar-Retinal Degeneration
Athetosis, Optic atrophy, Ataxia OMIM:614559
Hsd10 Mitochondrial Disease
Restlessness, Aggressive behavior, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Agitation... OMIM:300438
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect, Optic atrophy OMIM:608688
Systemic Capillary Leak Syndrome
Pericarditis, Pulmonary edema, Myocarditis, Cardiorespiratory arrest, Weight loss, Pedal edema, P... ORPHA:188
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... ORPHA:494424
Oligomeganephronia
Pulmonary venous occlusion, Small for gestational age, Congenital diaphragmatic hernia, Secundum ... ORPHA:2260
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Ataxia, Babinski sign, Dysmetria, Dysphagia, Choreoathetosis, Positive Romberg sign, Dystonia, Lo... OMIM:618088
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Fa... OMIM:612946
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Recurrent upper respiratory tract infections, Recurrent pneumonia,... OMIM:614868
Alagille Syndrome 2
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... OMIM:610205
Marfan Syndrome
Aortic regurgitation, Pulmonary artery dilatation, Decreased muscle mass, Tricuspid regurgitation... OMIM:154700
3C Syndrome
Recurrent respiratory infections, Death in infancy, Ventricular septal defect, Abnormal mitral va... ORPHA:7
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Tethered cord, Mitral atresia, Patent ductus arteriosus, Optic atr... OMIM:618164
Neurodevelopmental Disorder With Involuntary Movements
Dystonia, Involuntary movements, Chorea, Dysphagia, Athetosis, Self-injurious behavior, Hyperkine... OMIM:617493
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Spastic tetraplegia, Choreoathetosis, Aplasia of the left hemidiaphragm, Dystonia,... OMIM:618238
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Increased variability in muscle fiber diameter, Bradycardia, Weakness of facial musculature, Incr... OMIM:620265
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Prominent superficial veins, Cor triatriatum, Recurrent respiratory infections, Sec... OMIM:612541
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior, Abnormali... ORPHA:382
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Truncus ar... OMIM:616589
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... OMIM:220210
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect, Recurrent lower respiratory tract infections, Failure to thrive, S... OMIM:620194
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... ORPHA:95434
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Emanuel Syndrome
Recurrent respiratory infections, Multiple joint contractures, Ventricular septal defect, Truncus... ORPHA:96170
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Ventricular septal defect, Small for gestational age, ... OMIM:618775
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Death in infancy, Left ventricular noncompaction cardiomyopathy, Left atrial enlarg... OMIM:619424
Mungan Syndrome
Abnormality of the autonomic nervous system, Tricuspid regurgitation, Perimembranous ventricular ... OMIM:611376
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Optic atrop... OMIM:617710
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ... OMIM:617300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Right ventricular dilatation, Restrictive ventilatory defect, Myopathy, Limb-girdle... ORPHA:369840
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Restrictive ventilatory defect, Limb-girdle muscular dystrophy, Myo... ORPHA:369847
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Dystonia, Paralysis, Athetosis, Dysphagia OMIM:300857
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Facial palsy, Tre... OMIM:128100
Cardiofaciocutaneous Syndrome 4
Optic nerve hypoplasia, Polyhydramnios, Ventricular septal hypertrophy, Abnormal aortic valve mor... OMIM:615280
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Snijders Blok-Campeau Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:618205
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Skeletal muscle atrophy, Failure to thrive, Pulmonic stenosis OMIM:615802
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Skeletal muscle atrophy, Choreoathetosis, Dystonia OMIM:614932
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... OMIM:612562
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Dysphagia, Abnormal upper motor neuron m... OMIM:611637
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... ORPHA:99094
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect, Decreased body weight OMIM:618665
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Small for gestational age, Polyh... OMIM:301056
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Optic disc pallor, Pain insensitivity, Death in infancy, Restlessness, Optic atrophy, Abnormal py... OMIM:614388
Leukoencephalopathy With Vanishing White Matter 2
Premature ovarian insufficiency, Unsteady gait, Optic atrophy, Secondary amenorrhea, Spasticity, ... OMIM:620312
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... ORPHA:85451
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Macroglo... OMIM:617022
Agnathia-Otocephaly Complex
Respiratory distress, Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Pulm... OMIM:202650
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... ORPHA:2306
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Facial dip... OMIM:617302
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion, Pulmonary arterial hypertension OMIM:234810
Pure Autonomic Failure
Orthostatic hypotension, Syncope, Abnormality of circulating catecholamine level, Abnormal autono... ORPHA:441
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
3-Methylglutaconic Aciduria, Type Ix
Clonus, Aggressive behavior, Optic atrophy, Choreoathetosis, Hypertonia, Spasticity OMIM:617698
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia OMIM:125370
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Inability to walk, Abnormal posturing, Opisthotonus, Tip... ORPHA:216866
Combined Oxidative Phosphorylation Deficiency 32
Death in infancy, Tremor, Inability to walk, Optic atrophy, Spasticity, Dysphagia, Choreoathetosi... OMIM:617664
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Cln3 Disease
Left ventricular hypertrophy, T-wave inversion, Optic atrophy, Bradycardia ORPHA:228346
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... OMIM:619534
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Diastasis recti, Polyhydramnios, Splenomegaly, Patent du... OMIM:608149
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart... ORPHA:363444
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... ORPHA:71277
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Infantile Convulsions And Choreoathetosis
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia ORPHA:31709
Serkal Syndrome
Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis ORPHA:139466
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia ORPHA:98809
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Respiratory ... OMIM:253800
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Multiple joint contractu... ORPHA:70
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Skeletal muscle atrophy, Death in infancy, Secundum atrial septal defect, Congestiv... OMIM:608779
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... OMIM:618218
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Optic atrophy, Obesity, Spina bifida occulta... OMIM:201000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Vocal cord par... OMIM:607641
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect, Failure to thrive OMIM:620242
Choreoathetosis, Familial Inverted
Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign, Gait disturbance OMIM:118750
Sandestig-Stefanova Syndrome
Small for gestational age, Muscular ventricular septal defect, Respiratory failure, Perimembranou... OMIM:618804
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dysphagia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Bilateral trilobed lung, Right atrial isomerism, Ventricular septal d... OMIM:270100
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Abnormal autonomic nervous sys... ORPHA:85447
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Acrocardiofacial Syndrome
Death in infancy, Ventricular septal defect, Truncus arteriosus, Camptodactyly of finger, Coarcta... ORPHA:2008
Alternating Hemiplegia Of Childhood 2
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia OMIM:614820
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Edema, Right ventricular failure, Pulmonary embolism, Incr... ORPHA:70591
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Optic atrophy, Flexion contracture, Ragged-red muscle fibers, Left ventri... OMIM:252011
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation OMIM:220220
Noonan Syndrome 5
Polyhydramnios, Large for gestational age, Arrhythmia, Pulmonic stenosis, Atrial septal defect, H... OMIM:611553
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Hypertension, Recurrent respiratory infections OMIM:619758
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Atrial septal defect, Contracture of the proximal interphalangeal ... OMIM:618109
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucen... OMIM:616564
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Ogden Syndrome
Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Ventricula... OMIM:300855
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Tachypnea, Coarctation of aorta, Atrial septal defect, Pulmonary arteri... OMIM:614857
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Inability to walk, Head t... OMIM:312080
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Allan-Herndon-Dudley Syndrome
Ataxia, Clonus, Inability to walk, Flexion contracture, Babinski sign, Spastic tetraplegia, Spast... OMIM:300523
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Small for gestational age, Cardiomegaly, Tachypnea, Hypertension, Death in chil... OMIM:613320
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... OMIM:115470
Congenital Myopathy 8
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive hea... OMIM:618654
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Congenital diaphragma... OMIM:600001
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
2,4-Dienoyl-Coa Reductase Deficiency
Death in infancy, Incoordination, Ataxia, Clonus, Optic atrophy, Tetraplegia, Choreoathetosis, De... OMIM:616034
X-Linked Creatine Transporter Deficiency
Hyperactivity, Aganglionic megacolon, Ataxia, Chorea, Athetosis, Hypertonia, Dystonia, Self-mutil... ORPHA:52503
Ravine Syndrome
Failure to thrive, Ataxia, Abnormal auditory evoked potentials, Abnormal brainstem morphology, At... ORPHA:99852
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... OMIM:205100
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal bleeding, Muscle fiber atrophy, Decreased muscle mass, Congestive heart failure, Recurre... ORPHA:1900
Adult Krabbe Disease
Hoffmann sign, Upper limb muscle weakness, Lower limb muscle weakness, Abnormal medulla oblongata... ORPHA:206448
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... OMIM:614980
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Tyshchenko Syndrome
Atrial septal defect, Polyhydramnios, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia, Re... OMIM:614654
Meester-Loeys Syndrome
Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aorti... OMIM:300989
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Perimembranous ventricular s... OMIM:618651
Developmental And Epileptic Encephalopathy 37
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M... OMIM:616981
Pancreatic And Cerebellar Agenesis
Death in infancy, Apnea, Optic nerve hypoplasia, Secundum atrial septal defect, Flexion contractu... OMIM:609069
Basal Ganglia Calcification, Idiopathic, 5
Postural tremor, Parkinsonism, Chorea, Hand tremor, Athetosis, Motor tics OMIM:615483
Adams-Oliver Syndrome 5
Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Patent foramen oval... OMIM:616028
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Optic disc pallor, Congenital diaphragmatic hernia, Atrial septal defect... OMIM:300887
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Dysphagia, Opisthoto... ORPHA:13
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur... ORPHA:49827
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Pate... OMIM:605275
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Pulmo... OMIM:618282
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Paucity of anterior horn motor n... OMIM:611890
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Neurogenic bladder, Spastic paraplegia, Distal sensory impairment, Gait ... OMIM:263570
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Dilation of Virchow-Robin spaces, Camptodactyly of finger OMIM:619951
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, Dystonia, Lethargy ORPHA:289916
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Dysphagia, Choreoa... OMIM:606159
Legius Syndrome
Supravalvar pulmonary stenosis OMIM:611431
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Optic nerve hypoplasia, Polyhydramnios, Paten... OMIM:617506
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Optic disc pallor, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgit... OMIM:619167
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe... OMIM:613954
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra... ORPHA:435638
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Developmental Delay, Language Impairment, And Ocular Abnormalities
Contracture of the proximal interphalangeal joint of the 5th finger, Tethered cord, Pulmonic sten... OMIM:620141
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Ankle flexion contracture, Decreased nerve conduction velocity, Choreoathetosis,... ORPHA:319514
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Dystonia, Episodic hemiplegia, Choreoathetosis OMIM:104290
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Flexion ... OMIM:613870
Keutel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Optic atr... ORPHA:85202
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... ORPHA:363705
Alg9-Cdg
Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the ... ORPHA:79328
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect, Increased nuchal translucency OMIM:620183
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At... OMIM:619472
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Pat... OMIM:602782
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... OMIM:605373
Costello Syndrome
Ventricular septal defect, Failure to thrive in infancy, Polyhydramnios, Mitral valve prolapse, M... ORPHA:3071
Holt-Oram Syndrome
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... OMIM:142900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Optic atrophy, Choreoathetosis, Dystonia, Lethargy ORPHA:79312
Sneddon Syndrome
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Ischemic stroke, Stroke OMIM:182410
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Developmental And Epileptic Encephalopathy 40
Spastic tetraparesis, Choreoathetosis, Myoclonus, Lethargy, Spasticity OMIM:617065
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facia... ORPHA:508498
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... ORPHA:95717
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Noonan Syndrome 6
Hypertrophic cardiomyopathy, Polyhydramnios, Pulmonic stenosis, Edema OMIM:613224
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Ventricular septal defect, Parachute mitral valve, Patent ductu... OMIM:618316
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... OMIM:612716
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Babinski sign, Choreoathetosis, Limb dystonia, Frequent falls, Foot dorsifle... OMIM:619054
Noonan Syndrome 4
Abnormal bleeding, Ventricular septal defect, Polyhydramnios, Large for gestational age, Pulmonic... OMIM:610733
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A... OMIM:212138
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Bruxism, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, Stereot... OMIM:618497
Myopathy With Extrapyramidal Signs
Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoathetosis, Calf m... OMIM:615673
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Dysphagia, Choreoathetosis, Bradykinesia, Hypertonia, Dys... OMIM:261640
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, Dystonia, Lethargy, Limb hy... OMIM:233910
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep... OMIM:158170
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Premature ovarian insufficiency, Ataxia, Optic atrophy, Difficulty walking, Amenorrhea OMIM:619425
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy... OMIM:615745
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Dystonia, Postural tremor, Dysphagia, Chorea, Optic atrophy, Abnormal br... ORPHA:98755
Developmental And Epileptic Encephalopathy 17
Inability to walk, Chorea, Athetosis, Dystonia OMIM:615473
Developmental And Epileptic Encephalopathy 42
Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia OMIM:617106
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Takenouchi-Kosaki Syndrome
Lymphedema, Patent ductus arteriosus, Optic atrophy, Abnormal cardiac septum morphology, Pulmonic... OMIM:616737
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Restlessness, Dystonia, Facial hypotonia, Ataxia, Parkinsonism, Tremor, Flexion c... OMIM:300055
Basal Ganglia Calcification, Idiopathic, 6
Choreoathetosis, Involuntary movements, Parkinsonism OMIM:616413
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Large for gestational age OMIM:613706
Developmental And Epileptic Encephalopathy 67
Athetosis, Recurrent hand flapping, Gait disturbance, Dystonia OMIM:618141
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmon... OMIM:618845
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Catel-Manzke Syndrome
Atrial septal defect, Failure to thrive, Ventricular septal defect, Camptodactyly of finger ORPHA:1388
Mitochondrial Complex I Deficiency, Nuclear Type 12
Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Frequent falls OMIM:301020
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Dystonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, ... OMIM:606703
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... OMIM:612422
Joubert Syndrome 28
Molar tooth sign on MRI, Optic disc pallor, Oculomotor apraxia, Ataxia OMIM:617121
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy, Somatic sensory dysfunction, Amyotrophic lateral sclerosis, Decreased ne... OMIM:612577
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Leukoencephalopathy, Cystic, Without Megalencephaly
Athetosis, Spasticity, Ataxia, Dystonia OMIM:612951
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... OMIM:616268
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... OMIM:168000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Diabetes mellitus, Abnormality of the thyroid gland, Ragged-red muscle fibers, Limb muscle weakne... OMIM:609286
Combined Oxidative Phosphorylation Deficiency 20
Small for gestational age, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Respirato... OMIM:615917
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Aortic valve stenosis, Flexion contracture, Pulmonic stenosis ORPHA:75496
Foxg1 Syndrome
Inability to walk, Bruxism, Choreoathetosis, Hyperkinetic movements, Myoclonus, Difficulty walkin... ORPHA:561854
Neurodevelopmental Disorder With Dystonia And Seizures
Chorea, Spastic tetraplegia, Athetosis, Self-injurious behavior, Dystonia OMIM:619922
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... ORPHA:1677
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A... OMIM:249420
Hsd10 Disease, Infantile Type
Restlessness, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegia, Dysphagia... ORPHA:391428
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Gordon Holmes Syndrome
Ataxia, Hypogonadotropic hypogonadism, Chorea, Secondary amenorrhea, Primary amenorrhea, Oligomen... OMIM:212840
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent duc... ORPHA:2847
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Microhydranencephaly
Skeletal muscle atrophy, Multiple joint contractures, Spastic tetraplegia, Athetosis, Hypoplasia ... OMIM:605013
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... OMIM:611705
Congenital Myopathy 11
Neonatal respiratory distress, Polyhydramnios, Patent ductus arteriosus, Apneic episodes in infan... OMIM:619967
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal cranial nerve morphology ORPHA:228399
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Oral-pharyngeal dysphagia, Babinski sign, Hypoplasia of the ventral pons, Vi... ORPHA:2524
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... OMIM:614473
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Aort... OMIM:615779
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis, Lethargy ORPHA:27
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... OMIM:617228
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Optic atrophy, Cardiomyopathy, Stroke, Atrial ... OMIM:249270
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis ORPHA:1131
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Double outlet left ventricle, Failure to thrive, Ventricular septal defect,... ORPHA:2255
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Paresthesia OMIM:615361
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Joint contracture of the 4th finger, Joint contracture of the 5th finger, ... OMIM:618914
Toriello-Carey Syndrome
Neonatal respiratory distress, Aganglionic megacolon, Patent ductus arteriosus, Coarctation of ao... ORPHA:3338
Oculocerebral Syndrome With Hypopigmentation
Athetosis, Spasticity OMIM:257800
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Peripheral arteriovenous fist... ORPHA:90308
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent lower respiratory tract infections, Failure to thrive, Bicuspid a... OMIM:617744
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... ORPHA:53583
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni... OMIM:309801
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Hydrops fetalis, Ascites, Dea... OMIM:269920
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia, Joint contracture, Limb... OMIM:614498
Scorpion Envenomation
Bundle branch block, Tachycardia, Pulmonary edema, Cardiac conduction abnormality, Edema, Congest... ORPHA:466677
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... ORPHA:758
Diamond-Blackfan Anemia 21
Aortic regurgitation, Secundum atrial septal defect, Obesity OMIM:620072
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Skeletal muscle atrophy, Loss of ability to walk in early childhood, Inability to walk, Facial di... OMIM:612073
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Unilateral Polymicrogyria
Apnea, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Stroke, Abnorm... ORPHA:268943
Pantothenate Kinase-Associated Neurodegeneration
Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambulation, Intention tremor,... ORPHA:157850
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
22Q11.2 Deletion Syndrome
Polyhydramnios, Abnormal lung lobation, Abnormal aortic arch morphology, Atrial septal defect, Sp... ORPHA:567
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Death in infancy, Bicuspid aortic valve, Mitral atresia, Small for gestational age, Tachypnea, Ao... OMIM:220111
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect ORPHA:40366
Intellectual Developmental Disorder, Autosomal Dominant 43
Failure to thrive, Pulmonic stenosis OMIM:616977
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... OMIM:618652
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Choreoathetosis, Athetosis, Chorea OMIM:309541
Chops Syndrome
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Optic atrophy, Obesity, Anomal... OMIM:616368
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Waddling gait, Abnormal lower motor neuron morphology, Spinal muscular atrophy, Scapuloperoneal a... OMIM:611067
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Small for gestational age, Patent ductus arteri... OMIM:610443
Intellectual Developmental Disorder, Autosomal Dominant 45
Heart murmur, Slender build, Pulmonic stenosis OMIM:617600
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Dystonia, Weakness of facial m... OMIM:618416
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly ... ORPHA:261330
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Ring Chromosome 12 Syndrome
Secundum atrial septal defect, Small for gestational age ORPHA:1439
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... ORPHA:268
Seckel Syndrome 9
Recurrent respiratory infections, Ventricular septal defect, Small for gestational age, Congenita... OMIM:616777
Fumarase Deficiency
Failure to thrive, Polyhydramnios, Optic atrophy, Perimembranous ventricular septal defect, Ascites OMIM:606812
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Tachypnea, Reduced left ... OMIM:616501
Noonan Syndrome 3
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Pulmo... OMIM:609942
Kabuki Syndrome 2
Coarctation of aorta, Pulmonic stenosis, Decreased body weight, Atrial septal defect, Atrioventri... OMIM:300867
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalize... OMIM:614437
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Abnormal lower motor neuron morphology, Tremor, Inability to walk, Flexion contrac... ORPHA:2590
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... OMIM:606070
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Dyspnea, Patent ductus arte... ORPHA:555877
Ataxia-Telangiectasia-Like Disorder 1
Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Di... OMIM:604391
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... OMIM:126320
Necrotizing Enterocolitis
Shock, Small for gestational age, Apnea, Edema, Abnormal heart morphology, Bradycardia, Hypotensi... ORPHA:391673
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Bicuspid aortic valve, Decreased nerve conduction velocity, Aortic roo... OMIM:616652
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, ... OMIM:619317
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchie... OMIM:620233
Pontocerebellar Hypoplasia, Type 7
Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Spastic paraplegia, Optic atrophy, Opist... OMIM:614969
Neurodegeneration With Brain Iron Accumulation 1
Decreased muscle mass, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperact... OMIM:234200
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Tetraamelia Syndrome 2
Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Dystonia 9
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia OMIM:601042
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Death in infancy, Failure to thrive in infancy, Cardiomegaly, Death in childhood, P... OMIM:619064
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve... ORPHA:52430
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Dysmetria, G... OMIM:617988
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic disc pallor, Lower limb spasticity, Optic neuropathy, Akinesia, Optic atrophy, Abnormal pyr... OMIM:618249
Huntington Disease-Like 1
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsines... ORPHA:157941
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis OMIM:614325
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Failure to thrive in infancy, Lymphedema, Optic atrophy, Pulmoni... ORPHA:1340
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... ORPHA:70578
Joubert Syndrome 40
Molar tooth sign on MRI, Oculomotor apraxia, Optic nerve hypoplasia OMIM:619582
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Respiratory insufficiency, Abnormal a... ORPHA:1166
Tetanus
Tachycardia, Hypertension, Abnormal autonomic nervous system physiology, Bradycardia, Autonomic b... ORPHA:3299
Salla Disease
Inability to walk, Spasticity, Athetosis, Ataxia OMIM:604369
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Schimke X-Linked Mental Retardation Syndrome
Choreoathetosis, Spasticity OMIM:312840
Chromosome 13Q33-Q34 Deletion Syndrome
Small for gestational age, Patent ductus arteriosus, Small thenar eminence, Pulmonary hypoplasia,... OMIM:619148
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Transaldolase Deficiency
Edema, Abnormal respiratory system physiology, Hydrops fetalis, Hepatosplenomegaly, Biventricular... ORPHA:101028
Sulfite Oxidase Deficiency, Isolated
Death in infancy, Generalized dystonia, Ataxia, Choreoathetosis, Hypertonia, Agitation, Hemiplegia OMIM:272300
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Monosomy 13Q34
Epistaxis, Obesity, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Common atrium ORPHA:96168
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Polyhydramnios, Mitral valve prolapse, Pulmonic stenosis,... OMIM:619745
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congesti... ORPHA:3342
Pagod Syndrome
Death in infancy, Sudden cardiac death, Congenital diaphragmatic hernia, Situs inversus totalis, ... ORPHA:991
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:603373
Leukodystrophy, Hypomyelinating, 4
Head titubation, Babinski sign, Flexion contracture, Spastic paraplegia, Choreoathetosis, Progres... OMIM:612233
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Pettigrew Syndrome
Aggressive behavior, Aqueductal stenosis, Flexion contracture, Optic atrophy, Gait ataxia, Choreo... OMIM:304340
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Varicose veins, Camptodactyly, Pulmonic stenosis, Aortic dissection, Bruising susceptibility, Vas... OMIM:618343
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Neonatal respiratory distress, Diaphragmatic eventration, Ventricular septal defect... OMIM:620025
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Mitochondrial Membrane Protein-Associated Neurodegeneration
Abnormal substantia nigra morphology, Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atro... ORPHA:289560
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Cardiomegaly, Congestive heart failure, Dehydration, Cardiomy... OMIM:212140
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Intrinsic hand muscle atrophy, Dysphagia, Dystonia, Abnormal posturing OMIM:304700
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Opisthotonus, Choreo... OMIM:619653
Down Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... OMIM:190685
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Anorexia, Tremor, Opisthotonu... ORPHA:79139
Costello Syndrome
Ventricular septal defect, Tracheomalacia, Rhabdomyosarcoma, Polyhydramnios, Achilles tendon cont... OMIM:218040
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Pleural effusion, Respiratory fai... ORPHA:542323
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonary sequestration OMIM:618330
Free Sialic Acid Storage Disease
Ataxia, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal pyramidal sign, Athetosis,... ORPHA:834
Developmental And Epileptic Encephalopathy 44
Athetosis, Spasticity, Dystonia OMIM:617132
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Obesi... OMIM:615996
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno... OMIM:614609
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Cenani-Lenz Syndactyly Syndrome
Pulmonic stenosis OMIM:212780
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Dysphagia, Gait ataxia, Titubation, Bradykin... ORPHA:225147
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil... ORPHA:90068
Pelizaeus-Merzbacher Disease
Ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Dystonia, Spasticity ORPHA:702
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Respiratory distress, Ventricular septal defect, Optic nerve hypopla... ORPHA:508488
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Failure to thrive, Ventricular septal defect, Tracheomalacia, Patent duc... OMIM:612561
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Facial edema, Spleno... OMIM:256550
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Failure to thrive, Abnormal pulmonary valve morphology, Portal hyper... ORPHA:974
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Large for gestational age, Patent duct... OMIM:239850
Cardiofaciocutaneous Syndrome 1
Polyhydramnios, Splenomegaly, Optic nerve dysplasia, Pulmonic stenosis, Atrial septal defect, Hyp... OMIM:115150
Charge Syndrome
Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal... OMIM:214800
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Bohring-Opitz Syndrome
Recurrent respiratory infections, Apnea, Facial hypotonia, Cardiomegaly, Optic atrophy, Bilateral... ORPHA:97297
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ... OMIM:620023
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Pa... ORPHA:210122
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect OMIM:616898
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... OMIM:618877
Cap Myopathy
Reduced systolic function, Central hypoventilation, Facial palsy, Abnormal muscle fiber morpholog... ORPHA:171881
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology... ORPHA:904
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Small for gestational age, Secundum atrial septal defect, Patent ductus ar... OMIM:613355
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
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Phaver Syndrome
Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta... ORPHA:2876
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... OMIM:100300
Choreoacanthocytosis
Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Progres... OMIM:200150
Vascular Ehlers-Danlos Syndrome
Internal hemorrhage, Abnormal bleeding, Peripheral arteriovenous fistula, Respiratory insufficien... ORPHA:286
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Spastic Paraplegia 86, Autosomal Recessive
Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis OMIM:619735
Autosomal Recessive Spondylocostal Dysostosis
Anomalous pulmonary venous return ORPHA:2311
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Diabetes mellitus, Decreased muscle glycogen content, ST segment elevation... ORPHA:263297
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops fetalis, Peric... OMIM:253250
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm... OMIM:267450
Mitochondrial Complex I Deficiency, Nuclear Type 26
Dysphagia, Choreoathetosis, Distal amyotrophy, Dystonia, Limb hypertonia OMIM:618247
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Macrog... ORPHA:226313
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... OMIM:300280
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Failure to thrive in infancy, Cardiomegaly ORPHA:858
Optic Atrophy 8
Abnormal auditory evoked potentials, Optic atrophy, Prolonged somatosensory evoked potentials, Mi... OMIM:616648
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Developmental And Epileptic Encephalopathy 1
Spastic tetraparesis, Abnormal pyramidal sign, Dysphagia, Choreoathetosis, Hypertonia, Dystonia, ... OMIM:308350
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Glossopharyngeal Neuralgia
Cranial nerve compression, Jaw claudication, Weight loss, Abnormal glossopharyngeal nerve morphol... ORPHA:221098
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Papilledema, Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral val... ORPHA:371428
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Abnormal right hemidiaphragm morphology, Multiple joint contractures, Abno... ORPHA:536471
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Tongue thrusting, Li... OMIM:608643
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Pedal edema... ORPHA:228116
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Ataxia, Involuntary movements, Choreoathetosis, Dystonia, Spasticity, Limb hypertonia OMIM:615905
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis, Tetralogy o... ORPHA:251071
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... ORPHA:35689
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis OMIM:619123
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal ... ORPHA:363958
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery hy... OMIM:300963
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... ORPHA:500159
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, Cough,... OMIM:619991
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Arterial dissection, Camptodactyly of finger, Arterial... ORPHA:284984
Aminopterin/Methotrexate Embryofetopathy
Ventricular septal defect, Situs inversus totalis, Spinal dysraphism, Pulmonary artery atresia, T... ORPHA:1908
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, D... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, D... OMIM:616437
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Vascular dilatation, Respiratory insufficiency ORPHA:2924
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Small for gestational age, Optic atrophy, Atrial septal defect, Failur... OMIM:614261
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Polyhydramnios, ... OMIM:616867
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap... OMIM:607225
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Scapular winging, Generalized dystonia, Ataxia, Parkinson... OMIM:614298
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Cardiac condu... ORPHA:353281
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... OMIM:615009
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Crackles, Cardiomegaly, Diffuse alveolar hemorrhage, Dyspnea, Nodular pattern on pu... ORPHA:99931
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest... ORPHA:2326
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Rubinstein-Taybi Syndrome 1
Respiratory distress, Polyhydramnios, Flexion contracture, Aortic isthmus hypoplasia, Atrial sept... OMIM:180849
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Fail... OMIM:601808
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Pulmonic stenosis OMIM:601321
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Small for gestational age, Valvular pulmonary stenosis, Atrial septal defe... OMIM:300707
Hereditary Methemoglobinemia
Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity ORPHA:621
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... OMIM:277600
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia OMIM:619814
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Involuntary movements, Abnormal bra... ORPHA:506
Watson Syndrome
Pulmonic stenosis OMIM:193520
Duane-Radial Ray Syndrome
Aganglionic megacolon, Ventricular septal defect, Facial palsy, Spina bifida occulta, Small thena... OMIM:607323
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Cerebrofacioarticular Syndrome
Lymphedema, Abnormal heart morphology, Pulmonic stenosis, Camptodactyly, Tracheomalacia ORPHA:314679
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Ataxia, Flexion contracture, Abnormal pyramidal sign, Babinski sign, Spa... ORPHA:59
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Dilated cardiomyopathy, Bradycardia, Aspiration, Failure to thrive OMIM:610768
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Failure to thrive, Multiple muscular ventricular septal defects... OMIM:615508
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4th finger, Pu... OMIM:618223
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Hepatomegaly, Peau d'orange, Death in infancy, Ventricular septal defect, Sple... OMIM:614576
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Patent ductus arteriosus... ORPHA:2637
X-Linked Intellectual Disability, Schimke Type
Hip contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, ... ORPHA:85285
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Hand tremor, G... OMIM:157640
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Edema, Right ventricular failure, Arterial occlusion, Weight loss, Palpitatio... ORPHA:100078
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Tachycardia, Apnea, Episodic tachypnea, Abnormal heart morphology, Aspiration ... ORPHA:79264
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atresia, Patent foramen ova... OMIM:620113
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Abnormal heart morphology, Congenital contracture, Joint contracture o... ORPHA:352490
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... OMIM:612474
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy, Abnormal lower motor neuron morphology, Su... ORPHA:276244
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Folate Malabsorption, Hereditary
Athetosis, Ataxia OMIM:229050
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Lethargy OMIM:312170
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Death in infancy, Ventricular septal defect, Neonatal death OMIM:613730
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Recurrent respiratory infecti... OMIM:232300
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Dural Sinus Malformation
Papilledema, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Sub... ORPHA:97339
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
D-Glyceric Aciduria
Neonatal respiratory distress, Optic nerve hypoplasia, Patent ductus arteriosus, Bradycardia, Fai... OMIM:220120
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Death in infancy, Morg... OMIM:613177
Birk-Landau-Perez Syndrome
Facial hypotonia, Optic atrophy, Limb ataxia, Choreoathetosis, Difficulty walking, Dystonia, Ocul... OMIM:617595
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Distal lower limb amyotrophy, Spastic paraplegia, Babinski sign, Ab... ORPHA:459056
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent... ORPHA:324604
Suleiman-El-Hattab Syndrome
Optic disc pallor, Recurrent respiratory infections, Ventricular septal defect, Atrial septal def... OMIM:618950
Atelis Syndrome 2
Dyspnea, Patent ductus arteriosus, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic ... OMIM:620185
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Dysphagia, Athetosis, Hypopl... ORPHA:572798
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility, Centrally nucleated skeletal muscle fibers, ... OMIM:619518
Alternating Hemiplegia Of Childhood
Facial hypotonia, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Rigidity, Chorea, Episodic... ORPHA:2131
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Failure to thrive, Ventricular septal defect, Small for gesta... OMIM:222470
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
Lujo Hemorrhagic Fever
Shock, Respiratory distress, Generalized edema, Crackles, Excessive bleeding after a venipuncture... ORPHA:319213
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema, Recurrent pneumonia, Cardiomegaly ORPHA:3137
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Atrial septal de... ORPHA:290
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta, Camptodactyly OMIM:616145
Legius Syndrome
Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Mitral valve prolapse, Vestibular s... ORPHA:137605
Mosaic Variegated Aneuploidy Syndrome 1
Small for gestational age, Embryonal rhabdomyosarcoma, Pulmonic stenosis, Atrial septal defect, O... OMIM:257300
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Congenital muscular torticollis, Abnormal lung lobation, Atrial septal defect, Trun... ORPHA:2538
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Neonatal respiratory distress, Ventricular septal defect, Apnea, Flexion contracture... OMIM:614653
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Hypotensio... ORPHA:340
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contr... OMIM:616897
Spinocerebellar Ataxia Type 13
Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic atrophy, Limb ataxia, ... ORPHA:98768
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Recurrent respiratory infections, Patent ductus arteriosus, Respiratory insufficien... ORPHA:1842
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Large for gestational age, Pulmo... OMIM:607721
Desmosterolosis
Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:35107
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucency, Macroglossia,... OMIM:615668
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,... OMIM:268800
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Contractural Arachnodactyly, Congenital
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... OMIM:121050
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Ventricular septal defect, Vascular dilatation OMIM:219730
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... OMIM:608328
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Dys... ORPHA:64753
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Left atrial enlargement, Dyspnea, Flexion contracture, Right bundle ... OMIM:614008
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... ORPHA:329224
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Facial hy... ORPHA:308552
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... OMIM:235200
Keutel Syndrome
Sinusitis, Ventricular septal defect, Recurrent bronchitis, Miscarriage, Hypertension, Pulmonary ... OMIM:245150
Postinfectious Vasculitis
Cerebral vasculitis, Palpable purpura, Pneumonia, Abnormality of the peripheral nervous system, R... ORPHA:48435
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax, Chronic pulmonary obstruct... OMIM:619825
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Hypoventilation, Bicuspid aortic valve, Ventricular septal defect, Apnea, Brea... ORPHA:438213
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Dural ectasia, Ascending ao... OMIM:616166
Developmental And Epileptic Encephalopathy 74
Choreoathetosis OMIM:618396
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Respiratory arrest OMIM:600649
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Classic Galactosemia
Male infertility, Speech apraxia, Premature ovarian insufficiency, Ataxia, Incoordination, Postur... ORPHA:79239
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cachexia, Cardiomegaly, Myopathy, Distal arthrogryposis, A... ORPHA:42
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... OMIM:617751
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Frontometaphyseal Dysplasia 2
Hip contracture, Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Patent ductus a... OMIM:617137
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f... OMIM:620351
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Systemic Sclerosis
Pericarditis, Nail bed telangiectasia, Right ventricular failure, Raynaud phenomenon, Myocarditis... ORPHA:90291
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Small for gestational age, Splenomegaly, Patent ductus a... OMIM:606003
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... ORPHA:765
Brittle Cornea Syndrome
Camptodactyly, Bruising susceptibility, Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Familial Hyperprolactinemia
Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Bradycardia, Atrioventricular block OMIM:614407
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Optic atrophy, Right atrial enlargement OMIM:615219
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Asthma, Respiratory insuffic... ORPHA:488632
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dyspnea... OMIM:614921
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Precocious atherosclerosis, Spina bifida oc... ORPHA:230839
Congenital Tracheal Stenosis
Respiratory distress, Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta h... ORPHA:141127
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... OMIM:264800
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Decreased muscle mass, Facial hypotonia, Polyhydramnios, Congestive heart failure, Atrial septal ... ORPHA:500533
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Optic atrophy, Cardiomyopathy, Limb muscle weakness OMIM:619259
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... OMIM:613327
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... ORPHA:3400
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia OMIM:245348
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... OMIM:602099
Al Amyloidosis
Nonproductive cough, Xerostomia, Abnormal EKG, Hepatomegaly, Abnormal autonomic nervous system ph... ORPHA:85443
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Speech apraxia, Lower limb spasticity, Postural tremor, Rigidity, Oculomotor apraxia, Unsteady ga... ORPHA:412057
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve, Decreased body weight OMIM:300958
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Loeys-Dietz Syndrome 4
Torticollis, Bicuspid aortic valve, Arterial tortuosity, Pneumothorax, Mitral valve prolapse, Dur... OMIM:614816
Ogden Syndrome
Torticollis, Ventricular septal defect, Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia ORPHA:276432
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Joubert Syndrome 8
Optic disc pallor, Ataxia, Oculomotor apraxia, Obesity, Hypertonia, Molar tooth sign on MRI OMIM:612291
Glutamine Deficiency, Congenital
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Flexion contracture, Brad... OMIM:610015
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Slender build, Dyspnea, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic... OMIM:615156
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Leopard Syndrome 1
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... OMIM:151100
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Respiratory distress, Ventricular septal defect... ORPHA:26793
Prune Belly Syndrome
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Tetralogy ... ORPHA:2970
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Increased nuchal translucency, Coarctation of aorta, Abnormal heart mo... OMIM:618494
Squalene Synthase Deficiency
Bicuspid aortic valve, Optic nerve hypoplasia, Failure to thrive in infancy, Elbow flexion contra... OMIM:618156
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia OMIM:257970
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Spasticity, Self-mutilation OMIM:308950
Robinow Syndrome
Ventricular septal defect, Small for gestational age, Abnormal heart morphology, Coarctation of a... ORPHA:97360
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Hypomimic f... ORPHA:247234
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus, Optic disc coloboma OMIM:241310
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Peters Plus Syndrome
Polyhydramnios, Patent ductus arteriosus, Bicuspid pulmonary valve, Optic atrophy, Spina bifida o... ORPHA:709
Telangiectasia, Hereditary Benign
Diffuse telangiectasia, Vascular dilatation OMIM:187260
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Opist... OMIM:619580
Noonan Syndrome 1
Abnormal bleeding, Ventricular septal defect, Failure to thrive in infancy, Lymphedema, Patent du... OMIM:163950
Stiff Skin Syndrome
Elbow flexion contracture, Bicuspid aortic valve, Camptodactyly, Knee flexion contracture OMIM:184900
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Dystonia, Spasticity OMIM:618451
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Death in infancy, Sudden cardiac death, Cardiomega... OMIM:201475
Diabetic Embryopathy
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Spinal dysraphis... ORPHA:1926
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia OMIM:266500
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Abnormal repetitive manne... OMIM:619435
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contract... ORPHA:365
Niemann-Pick Disease, Type A
Skeletal muscle atrophy, Rigidity, Inability to walk, Athetosis, Spasticity OMIM:257200
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... OMIM:265120
Glycogen Storage Disease Xv
Scapular winging, ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachyca... OMIM:613507
Pseudo-Torch Syndrome 3
Death in infancy, Apnea, Cerebral hemorrhage, Cardiomegaly, Respiratory insufficiency, Hypertension OMIM:618886
Mosaic Trisomy 1
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Polyhydramni... ORPHA:1692
Arterial Tortuosity Syndrome
Aortic regurgitation, Ventricular hypertrophy, Carotid artery dissection, Congenital diaphragmati... OMIM:208050
Meckel Syndrome 13
Molar tooth sign on MRI, Oculomotor apraxia, Flexion contracture, Ataxia OMIM:617562
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Ventricular septal defect, Optic nerve hypoplasia, Mitral regurgitation,... OMIM:615879
Severe Oculo-Renal-Cerebellar Syndrome
Choreoathetosis, Spasticity, Optic atrophy, Spastic diplegia ORPHA:2715
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Trisomy 13
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Optic atrophy, Hydro... ORPHA:3378
Oculofaciocardiodental Syndrome
Patent ductus arteriosus, Mitral valve prolapse, Flexion contracture of the 2nd toe, Abnormal car... ORPHA:2712
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Failure to thrive in infancy, Patent ductus arteriosus after birth at term... ORPHA:529962
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Flexi... OMIM:300166
Congenital Aortic Valve Stenosis
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... ORPHA:3093
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Polyhydramnios, Cervical cord compression, Atrial septal defect, Aspiratio... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Polyhydramnios, Cervical cord compression, Atrial septal defect, Aspiratio... ORPHA:353277
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Neonatal respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Optic atrophy... ORPHA:457193
Mowat-Wilson Syndrome
Ventricular septal defect, Aganglionic megacolon, Pulmonary artery sling, Patent ductus arteriosu... OMIM:235730
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri... OMIM:252920
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect, Bronchiectasis OMIM:620184
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Coronary artery calcification... OMIM:208000
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Episodic Ataxia Type 1
Poor coordination, Clumsiness, Choreoathetosis, Calf muscle hypertrophy, Hypertonia, Tip-toe gait ORPHA:37612
Mass Syndrome
Dural ectasia, Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse OMIM:604308
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart OMIM:618142
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endo... ORPHA:97214
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia OMIM:617450
Joubert Syndrome 20
Aggressive behavior, Inability to walk, Oculomotor apraxia, Molar tooth sign on MRI, Self-mutilation OMIM:614970
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Flexion contracture, Optic ... OMIM:619383
Degcags Syndrome
Hepatomegaly, Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Small for gestat... OMIM:619488
Congenital Disorder Of Deglycosylation 1
Restlessness, Pain insensitivity, Facial hypotonia, Involuntary movements, Oral-pharyngeal dyspha... OMIM:615273
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Neonatal respiratory distress, Tricuspid regurgitation, Ventricular septal defect, Scapular wingi... OMIM:618870
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Patent ductus arteriosus, Optic atrophy, Ventricular septal defect OMIM:220500
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm... OMIM:192430
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... ORPHA:79094
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Small for gestational age, Failure to thrive in infancy, Facial... ORPHA:261311
Tarp Syndrome
Neonatal death, Athetosis, Optic atrophy OMIM:311900
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Death in infancy, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defe... OMIM:620070
Boucher-Neuhauser Syndrome
Ataxia, Gait ataxia, Distal amyotrophy, Abnormal upper motor neuron morphology, Spasticity, Inten... OMIM:215470
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Congestive heart failure, S... OMIM:617303
Kleefstra Syndrome
Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Dyspnea, Pulm... ORPHA:261494
Sheehan Syndrome
Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc... ORPHA:91355
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri... OMIM:616894
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... OMIM:610978
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Aggressive behavior, Babinski sign, Inappropriate behavior, Gait disturbance, Myoclonus, Disinhib... OMIM:221770
Fibromuscular Dysplasia, Multifocal
Tortuous cerebral arteries, Vertebral artery tortuosity, Celiac artery dissection, Dilatation of ... OMIM:619329
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Failure to thrive, Hypoplastic left heart, Bicuspid aortic valve OMIM:619721
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertroph... OMIM:617713
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foramen ovale, Oligohydr... OMIM:618027
Desmosterolosis
Patent ductus arteriosus, Total anomalous pulmonary venous return OMIM:602398
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Mitral valv... OMIM:175050
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Death in infancy, Ventricular septal defect, Small for gestational age, Oligoh... OMIM:208085
Pyruvate Carboxylase Deficiency
Athetosis, Clonus OMIM:266150
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Decreased nerve conduction velocity, Congenital foot contractures, Bradycardia... ORPHA:565624
Thanatophoric Dysplasia
Polyhydramnios, Patent ductus arteriosus, Increased nuchal translucency, Respiratory insufficienc... ORPHA:2655
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Vascular ring, Knee flexion contracture, Mitr... OMIM:603387
Ovarian Hyperstimulation Syndrome
Generalized edema, Enlarged polycystic ovaries, Hypovolemia, Capillary leak, Peripheral edema, Pl... ORPHA:64739
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Skeletal muscle atrophy, Stroke-like episode, Bradycardia, Pulmonary arteri... OMIM:619272
Baraitser-Winter Syndrome 1
Patent ductus arteriosus, Aortic valve stenosis, Failure to thrive, Bicuspid aortic valve OMIM:243310
Von Hippel-Lindau Disease
Papilledema, Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Pancreatic endocr... ORPHA:892
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Mitral regurgitation, Aortic root aneurysm, Abdominal obesity, Camptod... OMIM:301039
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve... ORPHA:230851
Vici Syndrome
Recurrent respiratory infections, Failure to thrive, Congestive heart failure, Dilated cardiomyop... OMIM:242840
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Congestive heart fai... ORPHA:90349
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Atrial septal defect ORPHA:261295
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Aganglionic megacolon, Peripheral pulmonary artery stenosis OMIM:614749
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Apneic episodes in infancy, Limb hypertonia OMIM:301058
Thanatophoric Dysplasia Type 2
Polyhydramnios, Patent ductus arteriosus, Increased nuchal translucency, Respiratory insufficienc... ORPHA:93274
Retinitis Pigmentosa 89
Bicuspid aortic valve, Hepatosplenomegaly OMIM:618955
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con... ORPHA:505248
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve OMIM:300997
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Overweight, Patent ductus arteriosus, Recurrent pneumonia, Recurrent u... OMIM:619769
Hellp Syndrome
Generalized edema, Cerebral hemorrhage, Increased body weight, Prolonged prothrombin time, Hypote... ORPHA:244242
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hepatom... ORPHA:99827
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hyperthyroidism, Rhabdomyolysis, Palpitations, Goiter OMIM:188580
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Lymphedema, Patent ductus arteriosus, Flexion contracture, Optic atrophy, Abnormal heart morpholo... ORPHA:487796
Vein Of Galen Aneurysmal Malformation
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:1053
Nmda Receptor Encephalitis
Orthostatic hypotension, Involuntary movements, Oculogyric crisis, Orthostatic tachycardia, Rigid... ORPHA:217253
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Tricuspi... OMIM:143095
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot ORPHA:3186
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... OMIM:608013
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Hyperinsulinemia, Syncope, Type I diabetes mellitus, Palpitations, Hyperinsulinemic ... ORPHA:276575
Hypomandibular Faciocranial Dysostosis
Recurrent respiratory infections, Death in infancy, Polyhydramnios, Patent ductus arteriosus, Opt... ORPHA:1790
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic disc pallor, Facial hypotonia, Limb joint contracture, Inability to walk, Achilles tendon c... ORPHA:404454
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Recurrent respiratory infections, Small for gestational age, Pneumonia, Se... OMIM:264090
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:105550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hy... OMIM:615356
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Spina bifida occulta, Hypert... ORPHA:52
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect, Small for gestational age, Episodic tachypnea OMIM:615160
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Autosomal Recessive Cutis Laxa Type 2A
Ataxia, Inability to walk, Slurred speech, Athetosis, Dystonia, Spasticity ORPHA:357058
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Maternal diabetes, Hyperinsulinemia, Syncope, Type I diabetes mellitus, Palpitations... ORPHA:276580
Aortic Valve Disease 1
Bicuspid aortic valve, Mitral atresia, Ventricular septal defect, Aortic valve calcification, Dou... OMIM:109730
Hardikar Syndrome
Ventricular septal defect, Portal hypertension, Hematemesis, Patent ductus arteriosus, Partial an... OMIM:301068
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,... ORPHA:465508
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, H... ORPHA:2038
Digeorge Syndrome
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Chronic pulmonary obstruction,... OMIM:188400
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Rhabdomyosarcoma, Abnormal internal carotid artery morphology, Abnorm... ORPHA:97685
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Athetosis, Aganglionic megacolon OMIM:239300
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Facial hypotonia, Slender build, Polyhydramnios OMIM:611087
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Dysphagia, Athetosis, Limb d... ORPHA:25
Coach Syndrome 1
Optic disc pallor, Hepatomegaly, Portal hypertension, Splenomegaly, Hypertension, Vascular dilata... OMIM:216360
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Neonatal respiratory distress, Death in infancy, Apnea, Cardiomegaly, Dilated cardi... OMIM:608836
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Atrial septal defect, Polyhydramnios, Oligohydramnios OMIM:615476
Megalencephaly
Atrial septal defect, Truncal obesity ORPHA:2477
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Secundum atrial septal defect, Subarterial ven... ORPHA:99646
Snijders Blok-Fisher Syndrome
Choreoathetosis, Spasticity, Facial hypotonia, Opisthotonus OMIM:618604
Relapsing Polychondritis
Abnormal endocardium morphology, Pericarditis, Myocarditis, Dyspnea, Atelectasis, Large vessel va... ORPHA:728
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:613239
Joubert Syndrome 25
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:616781
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Pulmonary artery stenosis, Patent ductus arte... ORPHA:96167
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Renovascular hyp... ORPHA:401923
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve, Foot joint contracture OMIM:619641
16P12.1P12.3 Triplication Syndrome
Tachycardia, Abnormal heart morphology, Abnormal tricuspid valve morphology, Atrial septal defect... ORPHA:485405
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Polyhydramnios ORPHA:466926
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Left ventricular hyp... OMIM:613873
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios OMIM:263630
Dextrocardia
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal lung lobation, Abnormal heart morpho... ORPHA:1666
Joubert Syndrome 4
Ataxia, Oculomotor apraxia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thic... OMIM:609583
Lateral Meningocele Syndrome
Decreased muscle mass, Tethered cord, Ventricular septal defect, Bicuspid aortic valve, Patent du... OMIM:130720
Distal Triplication 15Q
Large for gestational age, Patent ductus arteriosus, Hypoplastic aortic arch, Flexion contracture... ORPHA:314588
Scleromyxedema
Abnormal coronary artery morphology, Transient ischemic attack, Raynaud phenomenon, Abnormal lung... ORPHA:167635
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiom... ORPHA:276556
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Cutis Laxa, Autosomal Recessive, Type Iiia
Athetosis, Distal amyotrophy OMIM:219150
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... ORPHA:488618
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Congenital diaphragmatic hernia, Choreoathetosis, Syringomyelia, Attention defici... ORPHA:261197
Ramos-Arroyo Syndrome
Respiratory distress, Aganglionic megacolon, Patent ductus arteriosus, Xerostomia, Severe failure... ORPHA:1051
Fg Syndrome Type 1
Progressive flexion contractures, Optic nerve hypoplasia, Mitral valve prolapse, Coarctation of a... ORPHA:93932
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral re... ORPHA:363700
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven... ORPHA:90307
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Abnormal v... ORPHA:163956
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Contracture of the distal interphalangeal joint of the finger... ORPHA:83617
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Dysesthesia, Rigidity, Abnormal brainstem morphology, Dysmetria, Gait ataxi... ORPHA:93256
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, Syringomyelia, Camptodactyly, Atrial septal de... OMIM:614846
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Dilation of Virchow-Robin spaces, Ventricular septal defect, Contracture of the proximal interpha... OMIM:300998
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Death in infancy, Optic neuropathy, Dyspnea, Patent ductus arteriosus, Dilated card... OMIM:610505
Potocki-Lupski Syndrome
Atrial septal defect, Failure to thrive, Patent foramen ovale, Small for gestational age OMIM:610883
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Pituitary hypothyroidism, Macroglossia, Bradycardia,... ORPHA:90674
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Decreased body weight, Atrial septal defect, P... OMIM:609053
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Hoffmann sign, Babinski sign... OMIM:601162
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... OMIM:613001
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental ... OMIM:193400
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Facial hypotonia, Congeni... OMIM:312870
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Failure to thrive in infan... OMIM:194050
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Obesity ORPHA:1035
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal jugular vein morphology, Edema of the dorsum of feet, Increased... ORPHA:275766
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent respiratory infections, Apnea, Abnormal pulmonary valve morphology, Splen... ORPHA:667
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Dyspnea, Death in childhood, Hypertrophic cardiomyopathy, Failure to thrive, Patent... OMIM:614582
Cantú Syndrome
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Vascular dilatation OMIM:614859
Stevenson-Carey Syndrome
Central hypoventilation, Left superior vena cava draining to coronary sinus, Camptodactyly, Atria... OMIM:611961
Familial Multiple Nevi Flammei
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat... ORPHA:624
Brain-Lung-Thyroid Syndrome
Hyperactivity, Dystonia, Ataxia, Incoordination, Involuntary movements, Abnormal eating behavior,... ORPHA:209905
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Syringomyelia, Wrist flexion contracture, Peripheral pulmonary artery stenosis ORPHA:436003
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Bicuspid aortic valve, Ventricular septal defect, Small for g... ORPHA:84064
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect ORPHA:93946
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Respiratory insufficiency, Abnormal heart morphology, Vascular d... OMIM:617641
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale, Respiratory distress ORPHA:89844
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Situs inversus totalis OMIM:619881
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... ORPHA:53719
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale, Oligohydramnios OMIM:616854
De Sanctis-Cacchione Syndrome
Ataxia, Babinski sign, Optic atrophy, Scissor gait, Choreoathetosis, Hypertonia, Spasticity OMIM:278800
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Atrial septal defect, Flexion contracture, Dilation of Virchow-Robin spaces, Bicuspid aortic valve OMIM:619720
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Oligohydramnios, Hepatospl... OMIM:267010
Zechi-Ceide Syndrome
Atrial septal defect, Abnormal heart morphology ORPHA:217017
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ... OMIM:611812
Rett Syndrome, Congenital Variant
Chorea, Tongue thrusting, Bruxism, Athetosis, Dystonia, Spasticity, Apraxia, Abnormal repetitive ... OMIM:613454
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Joubert Syndrome 31
Molar tooth sign on MRI, Oculomotor apraxia, Truncal ataxia OMIM:617761
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis, Camptodactyly of finger, Tracheomalacia ORPHA:896
Peroxisome Biogenesis Disorder 5A (Zellweger)
Death in infancy, Optic nerve dysplasia, Optic atrophy, Death in adolescence, Athetosis, Camptoda... OMIM:614866
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Tethered cord, Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal de... OMIM:617660
Joubert Syndrome 27
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Gait ataxia OMIM:617120
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Small for gestational age, Congenital diaphragmatic hernia... ORPHA:1596
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Chorea, Dystonia ORPHA:309246
Joubert Syndrome 1
Optic disc pallor, Hemifacial spasm, Hyperactivity, Ataxia, Brainstem dysplasia, Aggressive behav... OMIM:213300
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ... ORPHA:3405
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hypertension, Bradycardia, Hypotension, Abnormal... ORPHA:94093
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Flexion contracture, Decreased body weight, Atrial septal defect, Fail... OMIM:617452
Joubert Syndrome 32
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Large for gestational age OMIM:617757
Mckusick-Kaufman Syndrome
Failure to thrive, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Hy... ORPHA:2473
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Small for gestational age, Ventricular septal defect, Abnormal lung lobatio... OMIM:614114
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, ... ORPHA:2519
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... ORPHA:457279
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Oligohyd... ORPHA:96201
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome... OMIM:300967
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect OMIM:301044
Sepsis In Premature Infants
Abnormal bleeding, Hepatomegaly, Tachycardia, Small for gestational age, Abnormal mucociliary cle... ORPHA:90051
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
17Q23.1Q23.2 Microdeletion Syndrome
Dyspnea, Patent ductus arteriosus, Congenital contracture, Atrial septal defect, Pulmonary arteri... ORPHA:261279
Mitral Valve Prolapse 3
Mitral regurgitation, Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral regurgitation, Mitral valve prolapse OMIM:607829
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Abnormal midbrain morphology, Impulsivity, Dysphagia ORPHA:280195
Developmental And Epileptic Encephalopathy 4
Tremor, Spastic paraplegia, Choreoathetosis, Spastic tetraplegia OMIM:612164
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia, ... OMIM:620306
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Repeated pneumothoraces, Congenital diaphragmatic hernia, Coarctation ... OMIM:617602
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Mitral atresia, Pulmonary artery stenosis, Abnormal cardiac septum morpholo... ORPHA:140952
Coffin-Siris Syndrome 6
Atrial septal defect, Diaphragmatic eventration OMIM:617808
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, Hypomimic face OMIM:608572
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Small for gestational age, Patent ductus arteriosus, Coronary artery f... OMIM:620024
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Respiratory failure, Cardiomy... ORPHA:158687
Mosaic Trisomy 16
Ventricular septal defect, Small for gestational age, Patent ductus arteriosus, Abnormal lung mor... ORPHA:1708
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... ORPHA:363618
Joubert Syndrome 33
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:617767
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis OMIM:105500
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Mitral regurgitation, Neonatal d... OMIM:620244
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Polydipsia, Cerebral palsy, Spastic paraplegia ORPHA:369929
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Limb joint contracture, Ventricular septal defect, Decreased body weight, Atrial septal defect, F... ORPHA:505237
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Abnormal umbilical stump bleeding, Prolonged prothrombin time, Gi... ORPHA:335
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Tetral... OMIM:612582
White Forelock With Malformations
Atrial septal defect, Spina bifida occulta ORPHA:2475
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Atrial septal defect, Total anomalous pulmonary venous return OMIM:609945
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Ataxia, Tremor, Oculomotor apraxia, Gait disturbance, Molar tooth sign on MRI ORPHA:220497
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Decreased body weight OMIM:614886
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Patent ductus arteriosus, Respiratory failure, Atrial septal defect, Pate... OMIM:620327
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... OMIM:177850
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Edema, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Dehydratio... ORPHA:79404
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Tremor, Flexion contracture, Opisthotonus, Choreoathetosis, Hyperkinetic movements, Myocl... OMIM:616271
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Obesity, Mitral regurgitation, Atrial septal def... ORPHA:254346
Fucosidosis
Hepatomegaly, Decreased muscle mass, Failure to thrive, Cardiomegaly ORPHA:349
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Spina bifida occulta, Atrial septal defect,... OMIM:301030
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... OMIM:616843
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Joubert Syndrome 3
Atrial septal defect, Episodic tachypnea, Neonatal breathing dysregulation, Central apnea OMIM:608629
Stuve-Wiedemann Syndrome 1
Death in infancy, Apnea, Pulmonary arterial medial hypertrophy, Elbow flexion contracture, Respir... OMIM:601559
17Q12 Microduplication Syndrome
Atrial septal defect, Polyhydramnios ORPHA:261272
Neurocardiofaciodigital Syndrome
Optic disc pallor, Failure to thrive, Small for gestational age, Patent ductus arteriosus, Double... OMIM:619869
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Pulmonary hypoplasia OMIM:145420
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, N... OMIM:253310
Kaufman Oculocerebrofacial Syndrome
Optic disc pallor, Neonatal respiratory distress, Ventricular septal defect, Coarctation of aorta... OMIM:244450
Myotonic Dystrophy 2
Tachycardia, Premature ventricular contraction, Right bundle branch block, Hypogonadism, Elevated... OMIM:602668
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger... ORPHA:99776
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Pain insensitivity, Inability to walk by childhood/adolescence, Choreoathetosis, Ath... OMIM:620224
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Respiratory insuff... ORPHA:363623
Thanatophoric Dysplasia Type 1
Polyhydramnios, Patent ductus arteriosus, Increased nuchal translucency, Respiratory insufficienc... ORPHA:1860
Fucosidosis
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Flexion contracture, ... OMIM:230000
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect OMIM:617061
Joubert Syndrome 2
Ataxia, Brainstem dysplasia, Oculomotor apraxia, Optic disc coloboma, Hypoplasia of the brainstem... OMIM:608091
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:617159
Mucopolysaccharidosis Type 3
Hepatomegaly, Recurrent sinopulmonary infections, Cardiomegaly, Respiratory tract infection, Sple... ORPHA:581
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Premature Ovarian Failure 15
Irregular menstruation, Oligomenorrhea, Secondary amenorrhea OMIM:618096
Congenital Contractural Arachnodactyly
Camptodactyly of finger, Flexion contracture, Mitral valve prolapse, Congenital contracture, Arth... ORPHA:115
Cardiomyopathy, Dilated, 2E
Death in infancy, Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricu... OMIM:619492
Orofaciodigital Syndrome I
Hypertension, Vascular dilatation, Abnormal heart morphology OMIM:311200
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Skeletal muscle atrophy, Ataxia, Dysphagia, Type 2 muscle fiber predominance, Choreoathetosis, Dy... OMIM:615471
Lujan-Fryns Syndrome
Atrial septal defect, Camptodactyly of finger ORPHA:776
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Atrophy of the spinal cord, Dilated cardiomyopathy, Sub... ORPHA:79282
White-Sutton Syndrome
Facial hypotonia, Optic nerve hypoplasia, Congenital diaphragmatic hernia, Patent ductus arterios... OMIM:616364
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect ORPHA:521308
Noonan Syndrome 13
Lymphedema, Mitral valve prolapse, Mitral regurgitation, Atrial septal defect, Bruising susceptib... OMIM:619087
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Progressive flexion contractures, Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Ch... ORPHA:522077
Intellectual Disability-Strabismus Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Polyhydramnios, Patent ductus arteriosus, Ach... ORPHA:363528
Combined Oxidative Phosphorylation Deficiency 39
Flexion contracture, Sinus bradycardia, Congenital contracture, Type I diabetes mellitus, Arthrog... OMIM:618397
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis OMIM:618857
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Atelectasi... OMIM:618278
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Cerebral palsy, Spastic tetraplegia, Athetosis, Left ventricular hypertrophy, Spasticity OMIM:615474
Marburg Hemorrhagic Fever
Shock, Abnormal bleeding, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Non... ORPHA:99826
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Aortic valve stenosis, Camptodactyly ORPHA:459061
Joubert Syndrome 7
Ataxia, Brainstem dysplasia, Oculomotor apraxia, Hypoplasia of the brainstem, Molar tooth sign on... OMIM:611560
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... OMIM:244300
Familial Bicuspid Aortic Valve
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... ORPHA:402075
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Camptodactyly of finger, Congenital malformation of the left heart, Optic ... ORPHA:3455
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Ataxia, Tremor, Oculomotor apraxia, Gait disturbance, Molar tooth sign on MRI ORPHA:220493
Lymphedema-Hypoparathyroidism Syndrome
Lymphedema, Restrictive ventilatory defect, Pulmonary lymphangiectasia, Mitral valve prolapse OMIM:247410
Meckel Syndrome, Type 1
Camptodactyly of finger, Splenomegaly, Patent ductus arteriosus, Coarctation of aorta, Abnormal c... OMIM:249000
Abcd Syndrome
Neonatal death, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal agan... OMIM:600501
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Failure to thrive, Mitral valve prolapse OMIM:300986
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Thyroid lymph... OMIM:235510
3-Methylglutaconic Aciduria Type 7
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Hypertonia, Abnormality of ex... ORPHA:445038
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Patent duct... ORPHA:96191
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... ORPHA:368
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Polyhydramnios, Patent ductus arteriosus, Atrial septal defect, Recurrent lower respiratory tract... OMIM:618005
Trichorhinophalangeal Syndrome, Type Ii
Recurrent respiratory infections, Internal carotid artery dissection, Bicuspid aortic valve, Cere... OMIM:150230
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Restlessness, Abnormal medulla oblongata morphology, Ataxia, Facial palsy, A... ORPHA:68
Noonan Syndrome
Abnormal bleeding, Hepatomegaly, Abnormal pulmonary valve morphology, Lymphedema, Pulmonary arter... ORPHA:648
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Distal Deletion 10Q
Scapular winging, Patent ductus arteriosus, Spina bifida occulta, Facial diplegia, Atrial septal ... ORPHA:96148
Al Kaissi Syndrome
Atrial septal defect, Torticollis, Decreased body weight OMIM:617694
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement,... OMIM:619268
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Bruising susceptibility, Arterial rupture OMIM:619115
Loeys-Dietz Syndrome 5
Decreased muscle mass, Scapular winging, Ventricular septal defect, Failure to thrive in infancy,... OMIM:615582
Grange Syndrome
Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,... OMIM:602531
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Coach Syndrome 3
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:619113
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis, Recurrent respiratory infections, Asthma, Patent ductus art... ORPHA:251061
Marshall-Smith Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Apnea, Patent ductus arteriosus, Recurrent upp... OMIM:602535
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Ventricular septal defect, Overweight, Hematochezia, Failure to... OMIM:619575
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar... ORPHA:2463
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ataxia, Dystonia ORPHA:431361
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Palpebral edema, Patent ductus arteriosus, Hepatosplenomegaly, Macroglossia, Camptodactyly, Atria... ORPHA:397709
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Dyspnea, Bronchiectasi... OMIM:123700
Joubert Syndrome 15
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:614464
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Palpebral edema, Diastasis recti, Recurrent bronchitis, Cardi... OMIM:252500
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Flexion contracture, Ventricular septal d... OMIM:309520
Shashi-Pena Syndrome
Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces, Limb hypertonia OMIM:617190
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Failure to thrive, Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve mor... ORPHA:261552
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent ductus arteriosus, Increased nuchal translucency, Proximal muscle weakness in lower limbs,... ORPHA:280633
Pentalogy Of Cantrell
Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Pulm... ORPHA:1335
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Insulin-Like Growth Factor I, Resistance To
Ventricular septal defect, Truncal obesity, Decreased body weight, Atrial septal defect, Patent f... OMIM:270450
Buratti-Harel Syndrome
Atrial septal defect, Dilation of Virchow-Robin spaces, Recurrent pneumonia OMIM:619314
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Optic atrophy, Macroglossia, Failure to thri... OMIM:613457
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve OMIM:616367
Slc35A2-Cdg
Limb joint contracture, Camptodactyly of finger, Abnormal midbrain morphology, Spastic tetrapares... ORPHA:356961
Tarp Syndrome
Apnea, Optic atrophy, Tetralogy of Fallot, Pulmonary hypoplasia, Atrial septal defect, Failure to... ORPHA:2886
Mucolipidosis Type Ii
Knee flexion contracture, Patent foramen ovale, Telangiectases of the cheeks, Hepatosplenomegaly,... ORPHA:576
Osteopathia Striata With Cranial Sclerosis
Ventricular septal defect, Facial palsy, Apnea, Tracheomalacia, Polyhydramnios, Patent ductus art... OMIM:300373
Lesch-Nyhan Syndrome
Dysphagia, Opisthotonus, Choreoathetosis, Self-injurious behavior, Abnormality of extrapyramidal ... OMIM:300322
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal ... ORPHA:228308
Joubert Syndrome 14
Molar tooth sign on MRI, Hypoplasia of the brainstem, Optic atrophy, Ataxia OMIM:614424
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Small for gestational age, Dextrocardia, Patent ductus arteriosus, Atrial septal de... OMIM:277380
Generalized Arterial Calcification Of Infancy
Respiratory distress, Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios... ORPHA:51608
Distal Deletion 19P
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Wolcott-Rallison Syndrome
Hepatomegaly, Dehydration, Decreased body weight, Atrial septal defect, Double outlet right ventr... ORPHA:1667
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Increased nuchal transl... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Increased nuchal transl... ORPHA:352665
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Portal hypertension, Situs inversus totalis, Splenomegaly, Patent ductus arteriosus... OMIM:208540
Fontaine Progeroid Syndrome
Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve... OMIM:612289
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Tracheomalacia, Congenital diaphragmatic hernia, Patent ductus arterio... ORPHA:96121
Lead Poisoning
Abnormal sperm morphology, Decreased female libido, Somatic sensory dysfunction, Anorexia, Abnorm... ORPHA:330015
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation, Cerebral berry aneurysm, Mitral valve prolapse OMIM:173900
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Failure to thrive, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Aganglionic megaco... ORPHA:261537
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal de... OMIM:616449
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vascular dilatation OMIM:617219
Encephalitis Lethargica
Upper limb muscle weakness, Bradycardia ORPHA:83600
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus OMIM:619143
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Aganglionic megacolon, Ataxia ORPHA:2318
Peters-Plus Syndrome
Ventricular septal defect, Diastasis recti, Polyhydramnios, Patent ductus arteriosus, Pulmonic st... OMIM:261540
Hydranencephaly
Optic nerve hypoplasia, Abnormal internal carotid artery morphology, Dilatation of the ventricula... ORPHA:2177
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypoxemia, Hypertension, Stroke OMIM:603903
Neonatal Marfan Syndrome
Neonatal respiratory distress, Tricuspid regurgitation, Small for gestational age, Abnormal cardi... ORPHA:284979
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Abnormal bleeding, Cachexia, Patent ductus arteriosus, Abnormal hear... ORPHA:79076
Joubert Syndrome 6
Ataxia, Oculomotor apraxia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated super... OMIM:610688
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Aggressive behavior, Ragged-red muscle fibers, Flexion contracture, Rhab... ORPHA:17
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Optic disc ... OMIM:618454
Mowat-Wilson Syndrome
Bicuspid aortic valve, Aganglionic megacolon, Pulmonary artery sling, Patent ductus arteriosus, F... ORPHA:2152
Focal Dermal Hypoplasia
Ventricular septal defect, Telangiectasia of the skin, Congenital diaphragmatic hernia, Diastasis... ORPHA:2092
Sotos Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Increase... OMIM:117550
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Ventricular septal defect, Large for gestational age, Pulmonary artery stenosis, Jo... OMIM:280000
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Patent ductus arteriosus, Hypopnea, Respiratory failure, Bradycardia, Ne... OMIM:617248
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Patent foramen ovale OMIM:620075
African Trypanosomiasis
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Miscarriage, Involunta... ORPHA:3385
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Polyhydramnios, Camptodactyly, Atrial septal defect, Spina bifida occulta OMIM:617360
Cutis Laxa, Autosomal Recessive, Type Iiib
Athetosis, Flexion contracture, Elbow flexion contracture OMIM:614438
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Flexion contracture, Optic atrophy, ... OMIM:147791
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... OMIM:264480
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia, Oculomotor apraxia OMIM:618161
Opitz Gbbb Syndrome
Enlarged ovaries, Ventricular septal defect, Tracheomalacia, Congenital diaphragmatic hernia, Pat... ORPHA:2745
Hallermann-Streiff Syndrome
Choreoathetosis, Hyperactivity, Optic disc coloboma, Spina bifida OMIM:234100
Alazami Syndrome
Atrial septal defect ORPHA:319671
Congenital Myopathy 12
Death in infancy, Small for gestational age, Polyhydramnios, Respiratory insufficiency due to mus... OMIM:612540
Glutaric Acidemia I
Rigidity, Spastic diplegia, Opisthotonus, Choreoathetosis, Dystonia OMIM:231670
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ataxia, Abnormal pyramidal sign, Spastic tetraplegia, Athetosis, Abnormality of extrapyramidal mo... ORPHA:2719
Wiedemann-Steiner Syndrome
Atrial septal defect, Contracture of the distal interphalangeal joint of the fingers, Patent duct... OMIM:605130
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Scapular winging, Patent ductus arteriosus, Small for gestational age OMIM:609625
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Apnea, Rhabdomyosarcoma, Polyhydramnios, Increased nuchal translucency, Abn... ORPHA:1052
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Atrial septal defect, Aganglionic megacolon OMIM:614207
Stiff-Person Syndrome
Tachycardia, Diabetes mellitus, Hypertension, Proximal limb muscle stiffness, Asymmetric limb mus... OMIM:184850
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart... ORPHA:85438
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation OMIM:617056
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp... OMIM:611962
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Bicuspid aortic valve, Polyhydramnios, Lymphedema, Splenomegaly, Hepatosplenomegaly, Mitral regur... OMIM:613563
Joubert Syndrome 10
Molar tooth sign on MRI OMIM:300804
8P11.2 Deletion Syndrome
Atrial septal defect, Splenomegaly, Patent ductus arteriosus, Mitral valve prolapse ORPHA:251066
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Athetosis, Spasticity, Hypertonia, Spastic tetraplegia ORPHA:79351
Johanson-Blizzard Syndrome
Hepatomegaly, Ventricular septal defect, Small for gestational age, Portal hypertension, Situs in... OMIM:243800
Diamond-Blackfan Anemia 11
Bicuspid aortic valve OMIM:614900
Bdv Syndrome
Atrial septal defect, Obesity OMIM:619326
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosu... OMIM:301043
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Elbow contracture, Asthma, Patent ductus arteriosus, Knee flexion contracture,... OMIM:618162
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Facial hypotonia OMIM:614526
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Werner Syndrome
Skeletal muscle atrophy, Telangiectasia of the skin, Miscarriage, Myocardial infarction, Abnormal... ORPHA:902
Bohring-Opitz Syndrome
Neonatal respiratory distress, Ventricular septal defect, Polyhydramnios, Flexion contracture, Ca... OMIM:605039
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Wilson Disease
Aggressive behavior, Abnormality of the menstrual cycle, Hypersexuality, Clumsiness, Proximal mus... ORPHA:905
Trisomy 8P
Multiple joint contractures, Abnormal atrioventricular connection, Recurrent upper respiratory tr... ORPHA:264450
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve ORPHA:96169
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Pneumothorax, Right bundle branch block, Ascen... OMIM:617403
Bardet-Biedl Syndrome 20
Atrial septal defect, Papilledema, Asthma, Obesity OMIM:619471
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Recurrent pneumonia, Left superior vena cava draining to coronary sinu... ORPHA:464738
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect... OMIM:607872
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Small for gestational age, Failure to thrive in infancy, Flexion contracture, Generalized limb mu... OMIM:618891
Fanconi Anemia, Complementation Group F
Pneumonia, Polyhydramnios, Patent ductus arteriosus, Atrial septal defect, Failure to thrive OMIM:603467
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Small for gestational age, Macroglossia, Aortic valve stenosis, Bicuspid aortic valve OMIM:614501
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemor... ORPHA:536545
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect, Respiratory distress OMIM:610536
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections, Vascular dilatation, Cough ORPHA:2314
Myhre Syndrome
Ventricular septal defect, Small for gestational age, Pericardial effusion, Patent ductus arterio... OMIM:139210
Singleton-Merten Syndrome 1
Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Congestive heart fail... OMIM:182250
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Arrhythmia, Tracheobronchomalacia, Patent foramen ovale OMIM:619184
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea OMIM:110100
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:609152
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Prominent superficial veins, Tricuspid regurgitation, Pneumothorax, Mitral ... OMIM:617402
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Abnormal mitral valve morphology ORPHA:1292
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Tethered cord, Abnormal heart valve morphology, Congenital diap... ORPHA:280
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... OMIM:610655
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Small for gestational age, Spontaneous pneumothorax, Pulmonary arteriove... OMIM:606721
De Barsy Syndrome
Athetosis, Decreased muscle mass, Progressive cerebellar ataxia ORPHA:2962
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect OMIM:611134
Fryns Syndrome
Aganglionic megacolon, Ventricular septal defect, Polyhydramnios, Large for gestational age, Apla... OMIM:229850
Fetal Alcohol Syndrome
Atrial septal defect, Congenital diaphragmatic hernia ORPHA:1915
Oculoectodermal Syndrome
Transient ischemic attack, Lymphedema, Patent ductus arteriosus, Coarctation of aorta, Atrial sep... OMIM:600268
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis r... ORPHA:96334
Geleophysic Dysplasia 2
Hepatomegaly, Tricuspid stenosis, Respiratory insufficiency, Mitral valve prolapse, Mitral regurg... OMIM:614185
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Edema, Polyhydramnios, Splenomegaly, Patent ductus arter... OMIM:269860
Fanconi Anemia
Aganglionic megacolon, Spina bifida, Patent ductus arteriosus, Weight loss, Abnormal cardiac sept... ORPHA:84
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Hypotension OMIM:145600
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Slende... ORPHA:466791
Ataxia-Telangiectasia
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... OMIM:208900
Genitopatellar Syndrome
Hip contracture, Apnea, Knee flexion contracture, Pulmonary hypoplasia, Atrial septal defect, Art... ORPHA:85201
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... OMIM:171420
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypopla... OMIM:274000
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Neonatal asphyxia, Heart murmur ORPHA:2728
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Pulmonary embolism, Intracranial hemorrhage, Cough... ORPHA:3260
Zttk Syndrome
Aortic regurgitation, Unilateral lung agenesis, Ventricular septal defect, Patent ductus arterios... OMIM:617140
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Small for gestational age, Dilated cardiomyopathy, Biventricular hypertrophy, Hyper... OMIM:619573
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Optic disc coloboma, Ventricular septal defect, Camptodactyly of finger ORPHA:251014
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Camptodactyly OMIM:618529
3Mc Syndrome 1
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosus... OMIM:257920
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Large for gestational age, Polyhydramnios, Patent ductus arterio... OMIM:614080
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Palpebral edema, Pat... ORPHA:261337
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Patent ductus arteriosus, Abnormal lung lobation, Obesity, Abnormal heart morphology, Atrial sept... ORPHA:369837
Developmental And Epileptic Encephalopathy 100
Bilateral camptodactyly, Chorea, Elbow flexion contracture, Gait ataxia, Choreoathetosis, Myoclon... OMIM:619777
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Calcification of the aor... ORPHA:51
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Weight loss, Varicose veins, Syncope,... ORPHA:71273
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Polyhydramnios, Pulmonary artery stenosis, Dilatation of the ventricul... ORPHA:459070
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Respiratory insufficiency, Int... ORPHA:163979
Coffin-Siris Syndrome
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... ORPHA:1465
Alagille Syndrome 1
Ventricular septal defect, Tetralogy of Fallot, Coarctation of aorta, Stroke, Renal artery stenos... OMIM:118450
Lethal Kniest-Like Dysplasia
Atrial septal defect, Polyhydramnios, Edema ORPHA:2347
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction,... ORPHA:117
Gastritis, Familial Giant Hypertrophic
Vascular dilatation OMIM:137280
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus, Respiratory dis... OMIM:300968
Yunis-Varon Syndrome
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal translucency, Hydrops f... ORPHA:3472
Pseudohypoparathyroidism Type 1A
Calcinosis, Involuntary movements, Spinal cord compression, Choreoathetosis, Paresthesia, Myoclon... ORPHA:79443
Joubert Syndrome 16
Molar tooth sign on MRI, Oculomotor apraxia OMIM:614465
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Polyhydramn... ORPHA:3047
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery, Aganglionic megacolon ORPHA:895
Abetalipoproteinemia
Abnormal bleeding, Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Respiratory fa... ORPHA:14
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Dilation of Virchow-Robin spaces, Optic atrophy, Atrial septal defect, Arthrogryposis multiplex c... OMIM:619512
Omodysplasia 1
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall muscu... ORPHA:565
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Bronchiecta... ORPHA:90348
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ventricular septal defect, Bicuspid aortic valve, Spinal cord compression, Flexion contracture, M... OMIM:271640
Spondyloocular Syndrome
Lymphedema, Mitral valve prolapse, Decreased body weight, Atrial septal defect, Dysplastic aortic... OMIM:605822
Loeys-Dietz Syndrome
Abnormal bleeding, Cardiac arrest, Camptodactyly of finger, Arterial tortuosity, Patent ductus ar... ORPHA:60030
Helsmoortel-Van Der Aa Syndrome
Recurrent respiratory infections, Facial palsy, Obesity, Heart murmur, Mitral valve prolapse, Abn... OMIM:615873
Turnpenny-Fry Syndrome
Aortic regurgitation, Recurrent respiratory infections, Torticollis, Facial hypotonia, Polyhydram... OMIM:618371
Craniofacioskeletal Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch OMIM:300712
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Spina bifida occulta, Co... OMIM:105650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Lip tela... ORPHA:79280
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI OMIM:617127
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... OMIM:617063
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:3474
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:261236
Xeroderma Pigmentosum, Complementation Group A
Choreoathetosis, Spasticity, Ataxia, Distal sensory impairment OMIM:278700
Prolactinoma
Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnorma... ORPHA:2965
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Skeletal muscle atrophy, Flexion contracture of finger, Camptodactyly of finger, Ca... OMIM:256040
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Hip contracture, Death in infancy, Polyhydramnios, Large for gestational age, Paten... OMIM:300868
Larsen Syndrome
Ventricular septal defect, Tracheomalacia, Spinal cord compression, Atrial septal defect, Spina b... OMIM:150250
Joubert Syndrome 22
Molar tooth sign on MRI, Oculomotor apraxia OMIM:615665
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... OMIM:157800
Diamond-Blackfan Anemia
Radial artery aplasia, Small for gestational age, Ventricular septal defect, Nonimmune hydrops fe... ORPHA:124
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Edema, Lymphedema, Optic atrophy, Chylothorax, Atrial septal defect, Pleural effusion ORPHA:2526
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Death in infancy, Ventricular septal defect, Abnormal pulmonary... ORPHA:1507
Ventriculomegaly With Defects Of The Radius And Kidney
Vascular dilatation OMIM:602200
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Sp... ORPHA:3380
Joubert Syndrome 17
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:614615
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Facial palsy, Polyhydramnios, Optic disc coloboma, Atrial septa... OMIM:620186
Joubert Syndrome 9
Molar tooth sign on MRI, Oculomotor apraxia OMIM:612285
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
Visceral Myopathy, Familial, With External Ophthalmoplegia
Vascular dilatation OMIM:277320
Joubert Syndrome 18
Molar tooth sign on MRI, Camptodactyly OMIM:614815
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Flexion contracture, Upper airway obstruction, Camptodactyly OMIM:207410
Wilson Disease
Dystonia, Poor motor coordination, Decreased nerve conduction velocity, Tremor, Hypoesthesia, Rig... OMIM:277900
Arima Syndrome
Ataxia, Brainstem dysplasia, Optic atrophy, Hypoplasia of the brainstem, Molar tooth sign on MRI,... OMIM:243910
Coach Syndrome 2
Molar tooth sign on MRI, Oculomotor apraxia OMIM:619111
Magel2-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Flexion contracture, Xerostomia, Increased body weight, Abdomin... ORPHA:398069
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Acute respiratory distress syndrome, Portal hypertension, Patent ductus arteriosus, Wheezing, Res... OMIM:620005
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Death in infancy, Ventricular septal defect, Aganglionic megacolon, Splenomegaly, P... OMIM:270400
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios... ORPHA:818
Joubert Syndrome 37
Molar tooth sign on MRI, Oculomotor apraxia, Obesity OMIM:619185
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Galloway-Mowat Syndrome 9
Choreoathetosis OMIM:619603
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Inability to walk, Oculomotor apraxia, Ataxia OMIM:617563
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Pulmonary artery stenosis, Camptodactyly, Ankle flexion contracture, Knee flexion contracture ORPHA:435938
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Limb hypertonia ORPHA:457351
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect, Macroglossia ORPHA:93947
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Arrhythmia, Tetralogy ... ORPHA:1519
Ctcf-Related Neurodevelopmental Disorder
Small for gestational age, Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, ... ORPHA:363611
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Obesity, Coarctation of aorta, Muscle ... ORPHA:1772
21Q22.11Q22.12 Microdeletion Syndrome
Atrial septal defect, Failure to thrive in infancy, Camptodactyly ORPHA:261323
Atypical Werner Syndrome
Premature arteriosclerosis, Skeletal muscle atrophy, Prominent superficial veins, Telangiectasia ... ORPHA:79474
Codas Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios OMIM:600373
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Failure to thrive, Death in infancy, Ventricular septal defect, Shoulder flexion... OMIM:210710
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Ventricular septal defect, Hydrops fetalis, Pulmonary hypoplasia, Atrial... OMIM:263520
Early Infantile Epileptic Encephalopathy
Hyperactivity, Tremor, Choreoathetosis, Self-injurious behavior, Myoclonus, Dystonia, Episodic at... ORPHA:1934
Progeroid Short Stature With Pigmented Nevi
Small for gestational age, Aortic valve stenosis, Bicuspid aortic valve, Allergic rhinitis OMIM:176690
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Patent ductus arteriosus, Spinal arachnoid cyst, Varicose ve... ORPHA:33001
Non-Functioning Pituitary Adenoma
Macroorchidism, postpubertal, Decreased female libido, Hypogonadotropic hypogonadism, Female hypo... ORPHA:91349
Mosaic Trisomy 20
Abnormal mitral valve morphology, Abnormal spinal cord morphology, Dysplastic tricuspid valve, Ve... ORPHA:1724
Hamamy Syndrome
Atrial septal defect, Complete atrioventricular canal defect, Mitral regurgitation, Prolonged QRS... OMIM:611174
Xeroderma Pigmentosum, Complementation Group D
Choreoathetosis, Spasticity, Ataxia OMIM:278730
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hepatic arteriovenous malformation... ORPHA:2929
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Aggressive behavior, Impaired pain sensation, Self-injurious behavi... ORPHA:293987
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Diastasis recti, Pneumothorax, Mitral valve prolap... OMIM:601776
Senior-Loken Syndrome 8
Vascular dilatation OMIM:616307
Hypothyroidism, Congenital, Nongoitrous, 5
Mitral regurgitation, Patent foramen ovale OMIM:225250
Limb Body Wall Complex
Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Spina bifida, Abnorm... ORPHA:2369
Hyperlysinemia
Pulmonary artery hypoplasia, Failure to thrive, Recurrent pneumonia ORPHA:2203
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Failure ... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Failure ... ORPHA:99228
Monosomy X
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Failure ... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Failure ... ORPHA:881
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Palpebral ed... OMIM:619475
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Transient ischemic attack, Optic nerve hypoplasia, Failure to thrive in... ORPHA:500150
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Cardiomyopathy, Macroglossia, Atrial septal defect ORPHA:769
Cranioectodermal Dysplasia 2
Hepatomegaly, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Hydrop... OMIM:613610
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arteriosus, Stillbirth, Tr... OMIM:256520
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Congenital diaphragmatic hernia, Hydrops fetalis, Pulmonary hypoplasia, Atrial se... OMIM:616546
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Pheochromocytoma, Adrenoc... ORPHA:139411
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosu... OMIM:117650
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the b... ORPHA:444072
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Oculomotor apraxia, Abnormal optic disc morphology, Molar tooth sign on MRI, Elongated superior c... ORPHA:397715
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Adrenal pheochromocyt... OMIM:115310
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... OMIM:130650
Duplication Of The Pituitary Gland
Lower limb spasticity, Abnormality of masseter muscle, Abnormal midbrain morphology, Decreased bo... ORPHA:314621
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Oligoz... ORPHA:91348
Joubert Syndrome 39
Pain insensitivity, Overweight, Oculomotor apraxia, Joint contracture of the 5th finger, Molar to... OMIM:619562
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Polyhydramnios, Large for gestational age, Patent ductus arteriosus, Recurrent sinusitis, Atrial ... OMIM:213980
Wolfram Syndrome 2
Primary amenorrhea, Optic atrophy, Oligomenorrhea, Optic neuropathy OMIM:604928
Yellow Fever
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... ORPHA:99829
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyly, Atrial septal ... OMIM:613458
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramuscular hema... ORPHA:79
Joubert Syndrome 30
Molar tooth sign on MRI OMIM:617622
Ellis-Van Creveld Syndrome
Atrial septal defect, Common atrium OMIM:225500
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Hepatomegaly, Death in infancy, Ventricular septal de... ORPHA:373
Orofaciodigital Syndrome Xiv
Atrial septal defect, Patent ductus arteriosus, Optic disc coloboma, Ventricular septal defect OMIM:615948
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestation... ORPHA:116
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Death in infancy, Aganglionic megacolon, Recurrent upper respiratory tract infections, Hypertensi... OMIM:308205
Restrictive Dermopathy 1
Limb joint contracture, Polyhydramnios, Patent ductus arteriosus, Flexion contracture, Stillbirth... OMIM:275210
Distal Deletion 6P
Atrial septal defect ORPHA:96125
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Death in childhood, Campt... OMIM:309500
Restrictive Dermopathy
Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Polyhydramnios, Patent ductus... ORPHA:1662
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia, Joint contracture of the 5th finger OMIM:164200
Meckel Syndrome, Type 10
Molar tooth sign on MRI, Camptodactyly OMIM:614175
46,Xy Sex Reversal 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Abnormality of the menstrual cycle OMIM:400044
Carpenter Syndrome 2
Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Obesity,... OMIM:614976
Orofaciodigital Syndrome Type 6
Ataxia, Tremor, Gait disturbance, Molar tooth sign on MRI, Failure to thrive ORPHA:2754
Orofaciodigital Syndrome Type 1
Hypertension, Vascular dilatation ORPHA:2750
Bent Bone Dysplasia Syndrome 2
Atrial septal defect, Hepatomegaly, Arthrogryposis multiplex congenita OMIM:620076
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Abnormality of... ORPHA:284227
Hydrolethalus Syndrome 2
Molar tooth sign on MRI OMIM:614120
Cranioectodermal Dysplasia 1
Hepatomegaly, Bicuspid aortic valve, Recurrent respiratory infections OMIM:218330
Osteogenesis Imperfecta, Type Vii
Death in infancy, Absent pulmonary artery, Hypoplastic pulmonary veins OMIM:610682
Tsh-Secreting Pituitary Adenoma
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Decreased fertility ... ORPHA:91347
Multiple Osteochondromas
Pseudoaneurysm, Tethered cord, Spinal cord compression, Pneumothorax, Cervical myelopathy, Syring... ORPHA:321
Sotos Syndrome
Hip contracture, Aganglionic megacolon, Ventricular septal defect, Ankle flexion contracture, Sma... ORPHA:821
Penile Agenesis
Ventricular septal defect, Atrophy of the spinal cord, Bilateral lung agenesis, Pulmonary hypopla... ORPHA:49
Waardenburg Syndrome, Type 2E
Vascular dilatation OMIM:611584
Occipital Horn Syndrome
Venous insufficiency, Bruising susceptibility, Vascular dilatation ORPHA:198
Immunodeficiency 49
Pulmonary artery stenosis OMIM:617237
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Restlessness, Parkinsonism, Abnormality of extrapyramidal... ORPHA:100070
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Molar tooth sign on MRI, Hypoplasia of the brainstem, Flexion contracture, Spastic tetraplegia OMIM:619306
Floating-Harbor Syndrome
Small for gestational age, Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesoc... ORPHA:2044
Currarino Syndrome
Tethered cord, Vascular dilatation OMIM:176450
Pallister-Hall Syndrome
Ventricular septal defect, Large for gestational age, Patent ductus arteriosus, Abnormal lung lob... ORPHA:672
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis, Arrhythmia OMIM:250220
Poland Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Atrial sep... ORPHA:2911
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia, Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Joubert Syndrome 5
Ataxia, Aggressive behavior, Oculomotor apraxia, Molar tooth sign on MRI, Thickened superior cere... OMIM:610188
Townes-Brocks Syndrome
Failure to thrive, Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardia... ORPHA:857
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect, Recurrent aspiration pneumonia, Coarctation of a... OMIM:147920
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Pat... OMIM:135900
Schinzel-Giedion Midface Retraction Syndrome
Atrial septal defect, Macroglossia, Failure to thrive OMIM:269150
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Spina bifida, Respiratory insufficiency, Respiratory failure, Stillbirth, Atri... OMIM:304120
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Tethered cord, Ventricular septal defect, Small for gestational age, Atria... OMIM:194190
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Hypertension, Oligohydramnios OMIM:300896
Townes-Brocks Syndrome 1
Tethered cord, Ventricular septal defect, Small for gestational age, Atrial septal defect, Tetral... OMIM:107480
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Patent ductus arteriosus, Tethered cord, Ventricular septal defect OMIM:619522
Pallister-Killian Syndrome
Tethered cord, Ventricular septal defect, Edema of the dorsum of feet, Congenital diaphragmatic h... OMIM:601803
Diphallia
Atrial septal defect, Abnormal heart morphology ORPHA:227
Genitopatellar Syndrome
Hip contracture, Ventricular septal defect, Polyhydramnios, Knee flexion contracture, Pulmonary h... OMIM:606170
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Patent ductus arteriosus, E... OMIM:268300
Interstitial Cystitis
Dyspareunia, Abnormality of the menstrual cycle ORPHA:37202
Woodhouse-Sakati Syndrome
Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia OMIM:241080
Microphthalmia, Syndromic 1
Aganglionic megacolon, Bicuspid aortic valve, Optic disc coloboma, Pulmonary hypoplasia, Camptoda... OMIM:309800
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Patent ductus arteriosus, Cardiomyopathy, Atrial septal defect, Recurrent u... ORPHA:480880
Cornelia De Lange Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Increased nuchal translucency, Trunca... ORPHA:199
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Aspiration p... OMIM:619482
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Molar tooth sign on MRI, Stillbirth OMIM:616300
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Hypoplasia of the midbrain, Aggressive behavior OMIM:616202
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Failure to thrive OMIM:277170
Woodhouse-Sakati Syndrome
Choreoathetosis, Dystonia ORPHA:3464
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Joubert Syndrome 38
Molar tooth sign on MRI, Oculomotor apraxia OMIM:619476
Cranioectodermal Dysplasia 3
Peripheral pulmonary artery stenosis OMIM:614099
Pauci-Immune Glomerulonephritis
Purpura, Dyspnea, Arteritis, Abnormality of the pulmonary vasculature, Cough, Small vessel vascul... ORPHA:93126
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Flexion contracture OMIM:619479
Duodenal Atresia
Abnormality of the pulmonary artery, Polyhydramnios ORPHA:1203
Hypermobile Ehlers-Danlos Syndrome
Abnormality of the menstrual cycle, Decreased nerve conduction velocity, Aplasia/Hypoplasia of th... ORPHA:285
Malakoplakia
Orchitis, Abnormality of the menstrual cycle ORPHA:556
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypogonadotropic hypogonadism, Abnormality of the menstrual cycle, Decreased fertility, Testicula... ORPHA:90794
Wiskott-Aldrich Syndrome
Abnormality of the menstrual cycle ORPHA:906
Orofaciodigital Syndrome Type 14
Molar tooth sign on MRI ORPHA:434179
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon OMIM:601374

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 Ntf3

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 Ntf3.

No publications found that use IMPC mice or data for Ntf3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ntf3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ntf3tm172640(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ntf3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ntf3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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