| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
ORPHA:228190 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... |
OMIM:618719 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... |
OMIM:614980 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
OMIM:604381 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus... |
ORPHA:1457 |
| Atrial Septal Defect 4 |
|
Coarctation of aorta, Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect |
OMIM:212090 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... |
ORPHA:1455 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... |
OMIM:613854 |
| Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... |
ORPHA:261243 |
| Aortic Valve Disease 3 |
|
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... |
OMIM:618496 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... |
ORPHA:1686 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus |
ORPHA:1208 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... |
ORPHA:860 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... |
OMIM:618845 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi... |
OMIM:132900 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology |
OMIM:601612 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary artery stenosis, Pul... |
ORPHA:3427 |
| Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Difficulty walking, Incoordination, Distal sensory impairment, Paraparesis, Tip-toe gait, Hand tr... |
OMIM:302800 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Spasticity, Lower limb muscle weakness, Tetraparesis, Loss of ambulation, Ataxia, Spastic tetrapa... |
ORPHA:225154 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Transposition of the great arteries, Double outlet right ventricle, Ventricula... |
OMIM:231060 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Mental deterioration, Distal amyotrophy, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, De... |
OMIM:208920 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... |
OMIM:217095 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:249670 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Proximal muscle weakness in lower limbs, Motor axonal neuropathy, Distal sensory impairment, Hand... |
ORPHA:98856 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... |
OMIM:616749 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Axona... |
OMIM:614436 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Aortic Valve Disease 2 |
|
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C... |
OMIM:614823 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... |
OMIM:618780 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... |
OMIM:607941 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
| Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... |
ORPHA:2248 |
| Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... |
OMIM:108800 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... |
OMIM:610338 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Fasciculations, Distal sensory impairment, Axonal degeneration, Decreased number of ... |
OMIM:604484 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Spasticity, Memory impairment, Cerebral atrophy, Confusion, Astrocytosis, Myoclonus, Upper motor ... |
ORPHA:204 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Involuntary movements, Memory impairment, Chorea, Parkinsonism, Gait d... |
ORPHA:98934 |
| Inherited Creutzfeldt-Jakob Disease |
|
Abnormal pyramidal sign, Neuronal loss in central nervous system, Bradykinesia, Slurred speech, P... |
ORPHA:282166 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Progressive Non-Fluent Aphasia |
|
Mental deterioration, Temporal cortical atrophy, Memory impairment, Frontotemporal cerebral atrop... |
ORPHA:100070 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:617205 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:620294 |
| Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:615297 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... |
ORPHA:261183 |
| Periventricular Nodular Heterotopia 1 |
|
Stroke, Bicuspid aortic valve, Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:300049 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... |
ORPHA:3400 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... |
ORPHA:1727 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... |
ORPHA:284169 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
| Grange Syndrome |
|
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Cerebral cortical atrophy, Memory impairment, Astrocytosis, Myoclonus, Rigidity, Babinski sign, F... |
OMIM:600795 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Ascending tubular aorta... |
OMIM:619825 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... |
OMIM:613751 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... |
ORPHA:3384 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Hypertrophic nerve changes, Distal amyotrophy, Basal lamina onion bulb formation, Decreased motor... |
OMIM:214400 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... |
OMIM:617478 |
| Noonan Syndrome 9 |
|
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect |
OMIM:616559 |
| Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... |
ORPHA:229 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... |
ORPHA:99050 |
| Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Distal amyotrophy, Distal sensory impairment, Decreased number of peripheral myelinated nerve fib... |
OMIM:606482 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... |
OMIM:618138 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect |
OMIM:217085 |
| Transaldolase Deficiency |
|
Biventricular hypertrophy, Coarctation of aorta, Atrial septal defect |
ORPHA:101028 |
| Ciliary Dyskinesia, Primary, 40 |
|
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... |
OMIM:618300 |
| Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Atrioventricular canal defect, Abnormal aortic valve morphology, Bicuspid aortic valve, Coarctati... |
ORPHA:1120 |
| Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... |
OMIM:613426 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
| Methimazole Embryofetopathy |
|
Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:1923 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor weakness, Distal sensory... |
OMIM:616155 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Distal amyotro... |
OMIM:601596 |
| Loeys-Dietz Syndrome 2 |
|
Aortic root aneurysm, Generalized arterial tortuosity, Abdominal aortic aneurysm, Mitral valve pr... |
OMIM:610168 |
| Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
| Scimitar Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... |
ORPHA:185 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Plantar flexion contracture, Foot dors... |
OMIM:620011 |
| Pericardial And Diaphragmatic Defect |
|
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit... |
ORPHA:2847 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Coarctation of aorta, Ventricular septal defect |
OMIM:620210 |
| Cardiac Valvular Dysplasia 1 |
|
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... |
OMIM:212093 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect |
OMIM:615502 |
| Juvenile Huntington Disease |
|
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Gait ataxia, Myoclonus, ... |
ORPHA:248111 |
| Familial Bicuspid Aortic Valve |
|
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Thoracic aorta calcifi... |
ORPHA:402075 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal... |
OMIM:616276 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Tongue fasciculations, Distal amyotrophy, Falls, Failure to thrive, Foot dorsiflexor weakness, Ha... |
OMIM:618811 |
| Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology |
ORPHA:99811 |
| Sandhoff Disease, Adult Form |
|
Mental deterioration, Spasticity, Proximal muscle weakness in lower limbs, Sensory axonal neuropa... |
ORPHA:309169 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Cerebral atrophy, Chorea, Peripheral demyelination, Ax... |
OMIM:604168 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect |
OMIM:126320 |
| Lessel-Kreienkamp Syndrome |
|
Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Pulm... |
OMIM:619149 |
| Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... |
ORPHA:2306 |
| Laubry-Pezzi Syndrome |
|
Abnormal coronary artery morphology, Patent foramen ovale, Aortic valve prolapse, Ventricular sep... |
ORPHA:99094 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persistent left su... |
OMIM:620642 |
| Cardiomyopathy, Dilated, 2H |
|
Muscular ventricular septal defect, Secundum atrial septal defect |
OMIM:620203 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
| Spinal Muscular Atrophy, Type Iv |
|
Centrally nucleated skeletal muscle fibers, Tongue fasciculations, Increased variability in muscl... |
OMIM:271150 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Tetralogy of Fallot, Truncus arteriosus, Ventricular septal defect, Coarc... |
ORPHA:3426 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
| Cardiac Valvular Dysplasia 2 |
|
Pulmonary artery dilatation, Bicuspid aortic valve, Subvalvular aortic stenosis, Dysplastic aorti... |
OMIM:620067 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... |
OMIM:617168 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... |
OMIM:604169 |
| Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect |
OMIM:601322 |
| Meacham Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Ventricular sep... |
OMIM:608978 |
| Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... |
OMIM:620570 |
| Sneddon Syndrome |
|
Stroke, Bicuspid aortic valve, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... |
OMIM:620135 |
| Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Memory impairment, Chorea, Action tremor, Rigidity, Dystonia, Weight l... |
OMIM:606438 |
| Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
ORPHA:210122 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Ventricular septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Tongue fasciculations, Spasticity, Global brain atrophy, Cerebellar atrophy, Hypoplasia of the po... |
OMIM:618276 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... |
ORPHA:477817 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Intercostal retractions, Cyanosis |
ORPHA:137935 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Abnormal mitral valve m... |
ORPHA:1354 |
| Patent Ductus Arteriosus 2 |
|
Patent ductus arteriosus |
OMIM:617035 |
| Spinocerebellar Ataxia 48 |
|
Mental deterioration, Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, ... |
OMIM:618093 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
| Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... |
ORPHA:3097 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... |
OMIM:613759 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... |
OMIM:620402 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
| Phace Association |
|
Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br... |
OMIM:606519 |
| Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum mo... |
OMIM:615009 |
| 14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
| Perching Syndrome |
|
Respiratory distress, Cyanosis |
OMIM:617055 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
| Patent Ductus Arteriosus 3 |
|
Patent ductus arteriosus |
OMIM:617039 |
| Patent Ductus Arteriosus 1 |
|
Patent ductus arteriosus |
OMIM:607411 |
| Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy... |
OMIM:600001 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... |
OMIM:619371 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy |
OMIM:254120 |
| Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia |
ORPHA:91359 |
| Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Apnea, Cyanotic episode |
OMIM:610992 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellular matrix accumulatio... |
ORPHA:91387 |
| Loeys-Dietz Syndrome 1 |
|
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tor... |
OMIM:609192 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... |
ORPHA:99095 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo... |
ORPHA:98762 |
| Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Double outlet right ventricle, Aortic root aneurysm, Ventricular septal de... |
OMIM:616652 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Phaver Syndrome |
|
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta, Ventricular septal defect |
ORPHA:2876 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Distal amyotrophy, Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle a... |
OMIM:602433 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis |
OMIM:616201 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Mental deterioration, Memory impairment, Frontotemporal cerebral atrophy, Fasciculations, Astrocy... |
ORPHA:275864 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... |
ORPHA:500159 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Broad-based gait, Decreased motor nerve conduction velocity, Decreased muscle mass, Inability to ... |
OMIM:615490 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... |
OMIM:601927 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition of the gr... |
OMIM:619657 |
| Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... |
OMIM:618619 |
| Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Ventricular septal defect |
OMIM:616920 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Sensory axonal neuropathy, Hypoplasia of the pons... |
OMIM:620542 |
| Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Subvalvular aortic stenosis, Patent ductus arteriosus |
ORPHA:1338 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Mental deterioration, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy... |
OMIM:617672 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arterio... |
OMIM:615382 |
| Fliedner-Zweier Syndrome |
|
Bicuspid aortic valve, Hypoplastic aortic arch, Ventricular septal defect |
OMIM:620511 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:618330 |
| Huntington Disease-Like 1 |
|
Cerebral cortical atrophy, Involuntary movements, Memory impairment, Cerebellar atrophy, Incoordi... |
ORPHA:157941 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Impaired vibratory sensation, Increased variability in muscle fiber diameter, Se... |
OMIM:616924 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Optic atrophy, Involuntary movements, Increased varia... |
ORPHA:401768 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Atrial septal defect |
OMIM:617744 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Distal amyotrophy, Failure to thrive, Denervation of the diaphragm, Camptodactyly of finger, Decr... |
OMIM:604320 |
| Aortic Arch Interruption |
|
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Bicuspid aortic valve, ... |
ORPHA:2299 |
| Periventricular Nodular Heterotopia |
|
Abnormal heart valve morphology, Aortic aneurysm, Patent ductus arteriosus |
ORPHA:98892 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... |
OMIM:220210 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Mental deterioration, Spastic paraplegia, Falls, Resting tremor, Ce... |
OMIM:617225 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... |
OMIM:619343 |
| Recombinant Chromosome 8 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle, Atrial septal defe... |
OMIM:179613 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Velocardiofacial Syndrome |
|
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Vent... |
OMIM:192430 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... |
ORPHA:3304 |
| Spinocerebellar Ataxia 12 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dysto... |
OMIM:604326 |
| Congenital Myopathy 11 |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:619967 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Mental deterioration, Cerebral cortical atrophy, Cerebellar atrophy, Confusion, Gait ataxia, Myoc... |
OMIM:615362 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617751 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defect, A... |
OMIM:612561 |
| Li-Campeau Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:619189 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:3405 |
| Spinocerebellar Ataxia 14 |
|
Mental deterioration, Memory impairment, Cerebellar atrophy, Gait ataxia, Dysmetria, Facial myoky... |
OMIM:605361 |
| Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Sensory axonal neuropathy, Skeletal muscle atrophy, Limb muscle weakness, Tre... |
OMIM:607458 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Do... |
ORPHA:371428 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis |
OMIM:617877 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Falls, Necrotizing myopathy, Ske... |
ORPHA:178464 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie... |
OMIM:115197 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Pa... |
OMIM:600460 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Partial atrioventricular canal defect, Ventricular septal defect, Atrial ... |
OMIM:615996 |
| Pulmonic Stenosis And Deafness |
|
Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... |
OMIM:615768 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Coarctation of aorta, Secundum atrial septal defect, Pulmonic stenosis |
OMIM:614300 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Positive Romberg sign, Parkinsonism, Neuronal loss in central nervous system, A... |
OMIM:607136 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Truncal titubation, Impaired vibration sensation in the lower limbs, Abnormal sensory nerve condu... |
ORPHA:88628 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve... |
OMIM:306955 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Progressive neurologic deterioration, Falls, Action myoclonus, Cerebellar atrophy, Limb ataxia, M... |
OMIM:616230 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Short chordae tendineae of the mitral valve, Bicuspid aortic valve, Short chordae tendineae of th... |
OMIM:314400 |
| Stiff Skin Syndrome |
|
Bicuspid aortic valve |
OMIM:184900 |
| Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert... |
OMIM:618280 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Myoclonus, Babinski... |
OMIM:619065 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... |
OMIM:270100 |
| Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Trun... |
OMIM:601186 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormal heart morphology, Muscular ventricular septal defect, Perimembranous ventricular septal ... |
ORPHA:363444 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal cerebral vascular morphology, Abnormal heart valve morphology, Di... |
ORPHA:363705 |
| Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect |
OMIM:620071 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
| Transaldolase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Pate... |
OMIM:606003 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pat... |
ORPHA:329224 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Persistent left super... |
OMIM:618494 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra... |
ORPHA:2255 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Cardiomegaly, Bicuspid aortic valve, Pericardial effusi... |
OMIM:239850 |
| Supravalvular Aortic Stenosis |
|
Peripheral arterial stenosis, Pulmonary artery stenosis, Pulmonic stenosis |
OMIM:185500 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Spasticity, Proximal muscle weakness in upper limbs, Decreased motor nerve conduction velocity, I... |
OMIM:620068 |
| Feingold Syndrome Type 1 |
|
Interrupted aortic arch, Abnormal heart morphology, Multiple muscular ventricular septal defects,... |
ORPHA:391641 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Difficulty walking, Muscle fiber atrophy, Axial dystonia, Opisthot... |
ORPHA:300605 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Pericardial effusion, Aortic aneurysm, Multiple muscular ventricular septal defects, Atrial septa... |
OMIM:620070 |
| Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve |
OMIM:618955 |
| Mast Syndrome |
|
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Lower limb muscle ... |
OMIM:248900 |
| Pentasomy X |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology |
ORPHA:11 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:618974 |
| Maternal Phenylketonuria |
|
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... |
ORPHA:2209 |
| Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Situs inversus totalis, Dextrocardia |
OMIM:617577 |
| X-Linked Progressive Cerebellar Ataxia |
|
Cerebellar vermis atrophy, Limb ataxia, Distal lower limb amyotrophy, Intention tremor, Dysmetria... |
ORPHA:1175 |
| Epilepsy, Progressive Myoclonic 7 |
|
Mental deterioration, Cerebellar atrophy, Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:254110 |
| Grange Syndrome |
|
Bicuspid aortic valve, Renal artery stenosis, Coronary artery stenosis, Carotid artery stenosis |
OMIM:602531 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pulmonary lymphangiectasi... |
OMIM:265380 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... |
ORPHA:216694 |
| Leukodystrophy, Hypomyelinating, 21 |
|
Mental deterioration, Optic atrophy, Cerebellar atrophy, Failure to thrive, Tetraparesis, Corpus ... |
OMIM:619310 |
| Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... |
ORPHA:1461 |
| Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... |
OMIM:613908 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect |
OMIM:614857 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Positive Romberg sign, Park... |
OMIM:258450 |
| Gerstmann-Straussler Disease |
|
Spasticity, Memory impairment, Cerebellar atrophy, Lower limb muscle weakness, Limb ataxia, Gait ... |
OMIM:137440 |
| Sifrim-Hitz-Weiss Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Paten... |
OMIM:617159 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Mental deterioration, Spasticity, Distal amyotrophy, Cerebellar atrophy, Cerebral atrophy, Fascic... |
OMIM:611302 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Contractural Arachnodactyly, Congenital |
|
Aortic root aneurysm, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, At... |
OMIM:121050 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... |
ORPHA:98769 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness, Dysmetria, Ankle clonus, Babi... |
OMIM:610357 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... |
OMIM:614954 |
| Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
| Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, L... |
OMIM:616564 |
| Huntington Disease |
|
Mental deterioration, Degeneration of the striatum, Difficulty walking, Weight loss, Clonus, Brad... |
ORPHA:399 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Distal amyotrophy, Cerebellar atrophy, Gait ataxia, Limb muscle weakness, Dysmetria, Distal senso... |
OMIM:618387 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... |
ORPHA:1166 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Small for gestational age, Sensory axonal neuropathy, Cerebellar vermis atrophy, Dilated fourth v... |
OMIM:619054 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Perimembranous ventricular septal defect, Patent ductus arteriosus |
OMIM:608104 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return |
ORPHA:2184 |
| Huntington Disease |
|
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central nervous syst... |
OMIM:143100 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Cyanosis |
OMIM:263000 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Hypoplastic left heart, Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:2001 |
| Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve |
OMIM:300997 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Spasticity, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ... |
ORPHA:284332 |
| Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... |
ORPHA:276193 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent ductu... |
OMIM:618652 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Optic atrophy, Shuffling gait, Cerebellar atrophy, Sensory axonal neuropathy, Cerebral atrophy, H... |
ORPHA:254886 |
| Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect |
OMIM:617450 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:619733 |
| Supranuclear Palsy, Progressive, 1 |
|
Memory impairment, Falls, Cerebral atrophy, Frontolimbic dementia, Akinesia, Gait imbalance, Retr... |
OMIM:601104 |
| Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... |
OMIM:208530 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, My... |
OMIM:256731 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Rimmed vacuoles, Tongue fasciculations, Proximal muscle weakness in lower limbs, Proximal muscle ... |
ORPHA:276435 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... |
OMIM:616053 |
| Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis, Cognitive impairment, Hemiparesis |
OMIM:607341 |
| Holt-Oram Syndrome |
|
Hypoplastic left heart, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular se... |
ORPHA:392 |
| Phenobarbital Embryopathy |
|
Tetralogy of Fallot, Abnormal mitral valve morphology |
ORPHA:1919 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Vocal cord paresis, Proximal muscle weakness in lower limbs, Peripheral demyelination, Distal sen... |
ORPHA:101097 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
| Cerebrotendinous Xanthomatosis |
|
Spasticity, Spastic paraparesis, Tendon xanthomatosis, Resting tremor, Parkinsonism, Paraparesis,... |
ORPHA:909 |
| Dystonia 22, Juvenile-Onset |
|
Mental deterioration, Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tre... |
OMIM:620453 |
| Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Abnormal inf... |
ORPHA:980 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa... |
OMIM:618748 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Spasticity, Proximal muscle weakness in lower lim... |
OMIM:613954 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Temporal cortical atrophy, Tetraparesis, Limb muscle weakness, Myopathy, Loss of ambulation, Fron... |
OMIM:167320 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Bicuspid aortic valve, Right atrial enlargement, Patent ductus arteriosus, Mitral valve prolapse |
ORPHA:555877 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Coarctation of aorta, Right aortic arch |
OMIM:140850 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter, Cerebellar atrophy, Inability to walk, Gait ataxi... |
OMIM:617915 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Cerebellar atrophy, Skeletal muscle atrophy, Gait ataxia, Cerebellar hypoplasia... |
OMIM:601238 |
| Acrocardiofacial Syndrome |
|
Tetralogy of Fallot, Mitral stenosis, Truncus arteriosus, Ventricular septal defect, Coarctation ... |
ORPHA:2008 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Aortic valve stenosis, Vascular dilatation, Patent ductus arteriosus |
OMIM:220220 |
| Spastic Paraplegia Type 7 |
|
Cerebral cortical atrophy, Optic atrophy, Memory impairment, Cerebellar atrophy, Somatic sensory ... |
ORPHA:99013 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Fanconi Anemia, Complementation Group B |
|
Coarctation of aorta, Patent ductus arteriosus, Ventricular septal defect |
OMIM:300514 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Mental deterioration, Memory impairment, Cerebellar dentate nucleus calcification, Chorea, Dysmet... |
OMIM:618317 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Coarctation of aorta |
OMIM:616069 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Ascending aortic dissection, Aortic tortuosity, Mitral valve prolapse |
OMIM:616166 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology |
ORPHA:2412 |
| Snijders Blok-Campeau Syndrome |
|
Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:618205 |
| Baraitser-Winter Syndrome 1 |
|
Aortic valve stenosis, Bicuspid aortic valve, Patent ductus arteriosus |
OMIM:243310 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Patent ductus arteriosus |
OMIM:619519 |
| Tetrasomy 15Q26 |
|
Hypoplastic aortic arch, Atrial septal defect, Patent ductus arteriosus |
OMIM:614846 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Falls, F... |
OMIM:618848 |
| Spastic Paraplegia 85, Autosomal Recessive |
|
Impaired vibratory sensation, Spastic paraplegia, Upper limb spasticity, Cerebellar atrophy, Opti... |
OMIM:619686 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Mental deterioration, Spastic paraplegia, Spastic gait, Cerebellar ... |
OMIM:614409 |
| Spinocerebellar Ataxia Type 17 |
|
Blepharospasm, Mental deterioration, Spasticity, Involuntary movements, Cerebellar atrophy, Chore... |
ORPHA:98759 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:613870 |
| Mungan Syndrome |
|
Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:611376 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Mental deterioration, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, Gait imbalance, ... |
OMIM:618369 |
| Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot |
ORPHA:217 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Mental deterioration, Spastic paraplegia, Optic atrophy, Cerebellar atrophy, Difficulty walking, ... |
OMIM:612319 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance, Cerebellar atrophy, Myoclonus, Short attention span, Tremor, Dy... |
OMIM:619028 |
| Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... |
OMIM:610245 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
| Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:300712 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Cognitive im... |
OMIM:615157 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Mental deterioration, Spastic paraparesis, Distal amyotrophy, Tip-toe gait, Neurodegeneration, Mo... |
OMIM:615643 |
| Amyotrophy, Hereditary Neuralgic |
|
Brachial plexus neuropathy, Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degen... |
OMIM:162100 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Patent ductus... |
OMIM:601005 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Impaired vibratory sensation, Distal amyotrophy, Cerebellar atrophy, Decreased motor nerv... |
OMIM:607250 |
| Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect |
OMIM:618804 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Mental deterioration, Difficulty walking, Impaired vibration sensation in the lower limbs, Loss o... |
ORPHA:137898 |
| Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Sensory axonal neuropathy, Dysmetria, Abnormality of extrapyramidal motor fun... |
OMIM:619806 |
| Smooth Muscle Dysfunction Syndrome |
|
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... |
OMIM:613834 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... |
OMIM:605376 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic valve stenosis, Tetralogy of Fallot, Conotruncal defect, Coarctation of aorta, Abnormal ca... |
ORPHA:96147 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... |
OMIM:616948 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Overriding aorta, Arteriovenous malformation |
ORPHA:1110 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... |
OMIM:618316 |
| Spastic Paraplegia 7, Autosomal Recessive |
|
Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, Degeneration of the ... |
OMIM:607259 |
| Myofibrillar Myopathy 11 |
|
Coarctation of aorta |
OMIM:619178 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Abnormal tendon morphology, Cere... |
ORPHA:320391 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... |
OMIM:213200 |
| Encephalocraniocutaneous Lipomatosis |
|
Aortic valve stenosis, Interrupted aortic arch, Abnormal aortic morphology, Tricuspid valve prola... |
ORPHA:2396 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth |
OMIM:619751 |
| 1Q21.1 Microdeletion Syndrome |
|
Interrupted aortic arch, Patent ductus arteriosus, Abnormal cardiac septum morphology |
ORPHA:250989 |
| Congenital Lobar Emphysema |
|
Respiratory distress |
ORPHA:1928 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Increased variability in muscle fiber diameter, Broad-based gait, Positive Romberg sign, Myopathy... |
OMIM:607459 |
| Nemaline Myopathy 2 |
|
Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness, Calf muscle ... |
OMIM:256030 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve |
OMIM:619318 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:2516 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Positive Romberg sign, Dysmetria, Weakness of f... |
OMIM:618088 |
| Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Left ventricular hypertrophy, Atrial sept... |
OMIM:615355 |
| Loeys-Dietz Syndrome 4 |
|
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, ... |
OMIM:614816 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Mental deterioration, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal p... |
OMIM:617145 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea |
ORPHA:141152 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxia, Ataxia, D... |
OMIM:615889 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic atrophy, Spasticity, Global brain atrophy, Cerebellar atrophy, Axonal degeneration, Dystoni... |
OMIM:616811 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Autosomal Recessive Spastic Paraplegia Type 78 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Sensory axonal neuropathy, Progressive spastic par... |
ORPHA:513436 |
| Peroxisome Biogenesis Disorder 8B |
|
Spasticity, Spastic paraparesis, Peripheral demyelination, Loss of ambulation, Clonus, Ataxia, Un... |
OMIM:614877 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| De Sanctis-Cacchione Syndrome |
|
Mental deterioration, Spasticity, Global brain atrophy, Optic atrophy, Cerebral atrophy, Olivopon... |
OMIM:278800 |
| Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cerebr... |
OMIM:619656 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Subvalvular aortic stenosis |
OMIM:192600 |
| X Small Rings |
|
Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Ventricular septal defect |
ORPHA:96201 |
| Monosodium Glutamate Sensitivity |
|
Dyspnea, Flushing |
OMIM:231630 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Coarctation of aorta, Dextrocardia |
OMIM:618929 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu... |
OMIM:612946 |
| Oculopharyngodistal Myopathy 3 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... |
OMIM:619473 |
| Spinocerebellar Ataxia 5 |
|
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ... |
OMIM:600224 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Vascular ring, Ventricular septal defect |
OMIM:603387 |
| Ramos-Arroyo Syndrome |
|
Patent ductus arteriosus |
OMIM:122430 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Spastic paraparesis, Cerebellar atrophy, Distal amyotrophy, Lower limb muscle weaknes... |
OMIM:614487 |
| Houge-Janssens Syndrome 3 |
|
Muscular ventricular septal defect, Atrial septal defect |
OMIM:618354 |
| Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... |
ORPHA:171439 |
| Septopreoptic Holoprosencephaly |
|
Coarctation of aorta |
ORPHA:280195 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Patent ductus arteriosus, Hypoplastic right heart, Atrial septal defect, Ventricular septal defect |
OMIM:618142 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card... |
ORPHA:1880 |
| Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
ORPHA:609 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus |
OMIM:616501 |
| Congenital Aortic Valve Stenosis |
|
Aortic valve stenosis, Aortic valve calcification, Endocardial fibroelastosis, Left ventricular h... |
ORPHA:3093 |
| Spinocerebellar Ataxia Type 1 |
|
Cognitive impairment, Bradykinesia, Progressive cerebellar ataxia, Slurred speech, Memory impairm... |
ORPHA:98755 |
| Mosaic Trisomy 16 |
|
Abnormal heart morphology, Ventricular septal defect, Single coronary artery origin, Coarctation ... |
ORPHA:1708 |
| Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Myoclonus, Cogn... |
OMIM:607346 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:616867 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Aortic aneurysm, Patent ductus arteriosus |
ORPHA:261102 |
| Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Abnormality of the pulmonary artery, Ventricular ... |
ORPHA:290 |
| Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Endocardial fibroelastosis, Cardiomyopathy |
OMIM:226100 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Difficulty walking, Slender build, Inability to walk, Astrocytosis, Facial hypotonia |
OMIM:611087 |
| Coffin-Siris Syndrome 7 |
|
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect |
OMIM:618027 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... |
OMIM:601954 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection |
OMIM:613780 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Hypoplastic left heart, Patent ductus arteriosus |
OMIM:617661 |
| Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... |
ORPHA:1913 |
| Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
| Pseudotrisomy 13 Syndrome |
|
Complete atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Atrial s... |
OMIM:264480 |
| Spinocerebellar Ataxia Type 27 |
|
Memory impairment, Cerebellar atrophy, Sensory axonal neuropathy, Hand tremor, Difficulty walking... |
ORPHA:98764 |
| High Altitude Pulmonary Edema |
|
Cyanosis, Tachypnea, Orthopnea, Dyspnea, Hypoxemia |
ORPHA:330012 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... |
OMIM:616127 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Frontotemporal dementia, Gliosis, Axonal loss, Dystonia... |
OMIM:300857 |
| Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Aortic aneurysm, Patent ductus arteriosus, Ventricular septal defect |
OMIM:130720 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
| Hengel-Maroofian-Schols Syndrome |
|
Bicuspid aortic valve |
OMIM:619641 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Abnormal aortic morphology, Cardiomyopathy |
ORPHA:3222 |
| Adrenomyeloneuropathy |
|
Spasticity, Memory impairment, Leg muscle stiffness, Progressive spastic paraparesis, Distal sens... |
ORPHA:139399 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P... |
ORPHA:401935 |
| Behr Syndrome |
|
Optic atrophy, Cerebellar atrophy, Sensory axonal neuropathy, Cerebellar vermis atrophy, Hamstrin... |
OMIM:210000 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Atrial septal defect, Intracranial hemorrhage... |
ORPHA:163979 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Abnormal nerve conduction velocity, Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclon... |
OMIM:619862 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... |
ORPHA:399058 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Coarctation of aorta, Subvalvular aortic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614114 |
| Transketolase Deficiency |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... |
ORPHA:488618 |
| Peters Plus Syndrome |
|
Hypoplastic left heart, Abnormality of the pulmonary artery, Abnormal pulmonary vein morphology, ... |
ORPHA:709 |
| Kapur-Toriello Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:2328 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Skeletal muscle atrophy, Lower l... |
OMIM:616479 |
| Spinocerebellar Ataxia 50 |
|
Froment sign, Memory impairment, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural ... |
OMIM:620158 |
| Noonan Syndrome 2 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... |
OMIM:605275 |
| Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Hypoplastic left heart, Pulmonary artery atresia, Mitral atresia, Ventricu... |
OMIM:618164 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Chorea, Myoclonus, Optic disc pallor, Athetosis, ... |
OMIM:617235 |
| Chromosome 9P Deletion Syndrome |
|
Perimembranous ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Ventric... |
OMIM:158170 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Patent ductus arteriosus, Dextrocardia |
ORPHA:2863 |
| Distal Deletion 15Q |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl... |
ORPHA:1596 |
| Congenital Myopathy 10A, Severe Variant |
|
Tongue fasciculations, Increased variability in muscle fiber diameter, Failure to thrive, Camptod... |
OMIM:614399 |
| Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... |
OMIM:615067 |
| Hypomandibular Faciocranial Dysostosis |
|
Patent ductus arteriosus, Atrial septal defect |
OMIM:241310 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Ankle flexion contracture, Limb-girdle muscular d... |
OMIM:608099 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
| Spinocerebellar Ataxia 28 |
|
Spasticity, Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Ragged-red... |
OMIM:610246 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect |
OMIM:619721 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Coarctation of aorta, Aortic root aneurysm, Atrial septal defect, Ventricular septal defect |
OMIM:617602 |
| Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
| Feingold Syndrome 1 |
|
Interrupted aortic arch, Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus,... |
OMIM:164280 |
| Mass Syndrome |
|
Ascending aortic dissection, Aortic aneurysm, Mitral valve prolapse |
OMIM:604308 |
| 3-Methylglutaconic Aciduria, Type Iv |
|
Biventricular hypertrophy, Subvalvular aortic stenosis |
OMIM:250951 |
| Sotos Syndrome |
|
Muscular ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Ventricular s... |
OMIM:117550 |
| Optic Atrophy 11 |
|
Optic atrophy, Increased variability in muscle fiber diameter, Facial diplegia, Dysmetria, Hyperk... |
OMIM:617302 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Myoclon... |
ORPHA:478029 |
| Christianson Syndrome |
|
Cerebral cortical atrophy, Cerebellar atrophy, Decreased muscle mass, Gait ataxia, Cachexia, Apla... |
ORPHA:85278 |
| Kleefstra Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Pulm... |
ORPHA:261494 |
| Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Intention tremor, Dysmetria, Oculomot... |
ORPHA:208513 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s... |
OMIM:616204 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:619769 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Tongue fasciculations, Involuntary movements, Increased variability in muscle fiber diameter, Sen... |
ORPHA:238329 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Spasticity, Cerebellar atrophy, Progressive psychomotor deterioration, C... |
ORPHA:1170 |
| Klippel-Trénaunay Syndrome |
|
Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Venous insufficiency, A... |
ORPHA:90308 |
| Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Upper limb muscle weakness, Lowe... |
ORPHA:171442 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscular dystrophy, Absent muscle fiber merosin, Inability to walk, Muscle fiber atrophy, Astrocy... |
ORPHA:258 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Dyspnea |
OMIM:265120 |
| Lethal Faciocardiomelic Dysplasia |
|
Hypoplastic left heart, Patent ductus arteriosus |
ORPHA:1972 |
| Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th... |
ORPHA:449400 |
| Distal Deletion 17Q |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology |
ORPHA:1597 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:615424 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Generalized amyotrophy, Sensory ... |
ORPHA:52430 |
| Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
| Riboflavin Transporter Deficiency |
|
Cerebral cortical atrophy, Skeletal muscle atrophy, Abnormal cranial nerve morphology, Myoclonus,... |
ORPHA:97229 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:614262 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Tachypnea, Dyspnea |
OMIM:267450 |
| Phace Syndrome |
|
Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal cerebral artery mo... |
ORPHA:42775 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:100300 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Toriello-Carey Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Coarctation of aorta, Abnormal cardiac septum morphology, Pa... |
ORPHA:3338 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617021 |
| Spinocerebellar Ataxia 42 |
|
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... |
OMIM:616795 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li... |
OMIM:300845 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus... |
OMIM:620519 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Koolen-De Vries Syndrome |
|
Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pat... |
OMIM:610443 |
| Alexander Disease Type I |
|
Spasticity, Cerebellar atrophy, Failure to thrive, Cachexia, Abnormal pyramidal sign, Ataxia, Pal... |
ORPHA:363717 |
| Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617516 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:617760 |
| Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
