| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
| Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia |
OMIM:611031 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
| Fetal Encasement Syndrome |
|
Omphalocele, Decreased fetal movement, Bilateral trilobed lung, Congenital diaphragmatic hernia, ... |
OMIM:613630 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... |
OMIM:605376 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Aortopulmonary ... |
OMIM:208530 |
| Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
| Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
| Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
| Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
| Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Duodenal atresia, Single umbilical ar... |
ORPHA:3405 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Indomethacin Embryofetopathy |
|
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... |
ORPHA:1909 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... |
OMIM:619702 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, H... |
OMIM:601927 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Hernia, Atrial septal defect, Single ventr... |
ORPHA:185 |
| Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
| Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign |
ORPHA:85292 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Cleft palate, Right aortic arch, Transposition of the great arteries, ... |
OMIM:231060 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
| Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis |
ORPHA:295 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Isomerism, Transposi... |
OMIM:314390 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... |
ORPHA:1330 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
| Chromosome 15Q25 Deletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Cleft ... |
OMIM:614294 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
High palate, Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fis... |
OMIM:619699 |
| Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
| Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia |
OMIM:611884 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal malrotation, Patent... |
OMIM:619657 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia |
OMIM:617577 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia |
OMIM:614679 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal... |
ORPHA:254534 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... |
OMIM:615482 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... |
OMIM:616037 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At... |
OMIM:306955 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
| Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
| Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
| Cardiac Valvular Dysplasia 1 |
|
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... |
OMIM:212093 |
| Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
| Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Inte... |
OMIM:618280 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation,... |
OMIM:618316 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
| Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... |
ORPHA:3426 |
| Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Cleft pal... |
OMIM:313850 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
| Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Atrial septal defect |
ORPHA:101028 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Hydrops Fetalis |
|
Abnormality of the gastrointestinal tract, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema,... |
ORPHA:1041 |
| Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Limb dystonia |
ORPHA:210571 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Edema, Venous insufficiency, Paten... |
ORPHA:90308 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Frequent falls, Hemiballismus |
ORPHA:494526 |
| Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Fetal akinesia sequence, Cardiomegaly, ... |
OMIM:617022 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Intention tremor |
OMIM:617863 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
| Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
| Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:618063 |
| Dextrocardia |
|
Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormal lung ... |
ORPHA:1666 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Chorea, Involuntary movements |
OMIM:616939 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
| Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
| Congenital Heart Block |
|
Premature birth, Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edem... |
ORPHA:60041 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Thickened nuchal skin fold, Omphalocele, Polyhydramnios, Congenital diaphragmatic hernia, Flexion... |
OMIM:263210 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag... |
OMIM:608978 |
| Omphalocele |
|
Omphalocele, Premature birth |
ORPHA:660 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
| Coronary Artery Dissection, Spontaneous |
|
Cystic medial necrosis, Coronary artery dissection |
OMIM:122455 |
| Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Camptodactyly of finger, Dextrocardia, Duodenal stenosis, Abnormal tricus... |
ORPHA:1759 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Bilateral trilobed lung, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intesti... |
OMIM:270100 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Nonimmune hydrops fetalis, Flexion contracture, Cardiomyopathy, Abnormality of the amniotic fluid... |
OMIM:608540 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Hypertroph... |
OMIM:618815 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Recurrent respiratory infections, Intestinal obstruction, Ventricular septal defect,... |
OMIM:243150 |
| Houge-Janssens Syndrome 3 |
|
Inguinal hernia, Muscular ventricular septal defect, High palate, Atrial septal defect, Umbilical... |
OMIM:618354 |
| Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... |
OMIM:618300 |
| Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia |
OMIM:606763 |
| Neuraminidase Deficiency |
|
Inguinal hernia, Bone-marrow foam cells, Cardiomegaly, Facial edema, Hydrops fetalis, Cardiomyopa... |
OMIM:256550 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... |
ORPHA:244 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... |
OMIM:615444 |
| Paroxysmal Kinesigenic Dyskinesia |
|
Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia |
ORPHA:98809 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Cleft palate, Ectopic anus, Hypoplastic left heart, Gastroschisis |
ORPHA:2476 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Ascites, Hydrops fetalis, Pulmonic stenosis |
OMIM:619433 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... |
OMIM:613807 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Dextrocardia, Patent ductus arteriosus, High palate, Anal atresia |
ORPHA:2863 |
| Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Cleft palate, Single umbilical artery, ... |
OMIM:220210 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Pulmonary hypoplasia, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:613124 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Inguinal hernia, Tetralogy of Fallot |
OMIM:615542 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... |
ORPHA:2143 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Pulmonary edema, Transient ischemic attack, Cardiomegaly, Pericardial ef... |
OMIM:115197 |
| Lymphatic Malformation 12 |
|
Inguinal hernia, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Pleural th... |
OMIM:620014 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ... |
ORPHA:314978 |
| Congenital Pulmonary Lymphangiectasia |
|
Hydrops fetalis, Chylopericardium, Gastroesophageal reflux, Pulmonic stenosis, Pleural effusion, ... |
ORPHA:2414 |
| Glycogen Storage Disease Iv |
|
Decreased fetal movement, Polyhydramnios, Edema, Esophageal varix, Hydrops fetalis, Cardiomyopath... |
OMIM:232500 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Premature birth, Polyhydramnios, Diastas... |
OMIM:608149 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia |
ORPHA:401835 |
| Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Abnormal lung lobation, Atrial sep... |
OMIM:265380 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
| Achondrogenesis |
|
Thickened nuchal skin fold, Inguinal hernia, Polyhydramnios, Hydrops fetalis, Aplasia/Hypoplasia ... |
ORPHA:932 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... |
ORPHA:101109 |
| Mulibrey Nanism |
|
Cardiomegaly, Microglossia, Hydrops fetalis, Myocardial fibrosis, Pericardial constriction, Recur... |
OMIM:253250 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion |
OMIM:619462 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Pulmonary hypoplasia, Nonimmune hydrops fetalis |
OMIM:619003 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
| Boomerang Dysplasia |
|
Omphalocele, Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetali... |
ORPHA:1263 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Fryns Syndrome |
|
Thickened nuchal skin fold, Omphalocele, Aganglionic megacolon, Intestinal malrotation, Polyhydra... |
ORPHA:2059 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Decreased fetal movement, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular sep... |
OMIM:620070 |
| Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... |
ORPHA:454887 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Ventricular septal defect |
ORPHA:93267 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... |
ORPHA:98762 |
| Infantile Sialic Acid Storage Disease |
|
Premature birth, Cardiomegaly, Hydrops fetalis, High palate, Ascites |
OMIM:269920 |
| Pentalogy Of Cantrell |
|
Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic... |
ORPHA:1335 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Bilateral cleft palate, Ventricular septal defect |
OMIM:601357 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
| Sandestig-Stefanova Syndrome |
|
Decreased fetal movement, Muscular ventricular septal defect, Perimembranous ventricular septal d... |
OMIM:618804 |
| Trisomy 1Q |
|
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaph... |
ORPHA:261344 |
| Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Ataxia, Hemiparesis |
OMIM:141500 |
| Lymphatic Malformation 6 |
|
Genital edema, Prune belly, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymph... |
OMIM:616843 |
| Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
| Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten... |
OMIM:179613 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
| Gastroschisis |
|
Abdominal wall defect, Gastroschisis |
OMIM:230750 |
| Renal Tubular Dysgenesis |
|
Premature birth, Polyhydramnios, Pulmonary hypoplasia, Tetralogy of Fallot, Oligohydramnios |
ORPHA:3033 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity |
OMIM:615924 |
| Esophageal Atresia |
|
Polyhydramnios, Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, Gastroesophageal ref... |
ORPHA:1199 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect |
OMIM:620024 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Nonimmune hydrops fetalis, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular sept... |
OMIM:618052 |
| Constricting Bands, Congenital |
|
Omphalocele, Abnormal lung lobation, Cleft palate, Gastroschisis, Ectopia cordis, Bladder exstrophy |
OMIM:217100 |
| Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Femoral hernia, Polyhydramnios, Hydrops fetalis, Aplasia/Hypoplasia o... |
ORPHA:93298 |
| Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect |
OMIM:620071 |
| Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
| Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Single umbilical artery, Aortic root aneurysm, Pulmonary ... |
OMIM:145420 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
| Achondrogenesis, Type Ib |
|
Inguinal hernia, Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Umbilical hernia |
OMIM:600972 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... |
ORPHA:216873 |
| Gastroschisis |
|
Gastroschisis, Intestinal atresia |
ORPHA:2368 |
| Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Femoral hernia, Polyhydramnios, Hydrops fetalis, Aplasia/Hypoplasia o... |
ORPHA:93299 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Cl... |
OMIM:616897 |
| Colonic Atresia |
|
Omphalocele, Peptic ulcer, Duodenal stenosis, Abdominal situs inversus, Gastroschisis, Colonic at... |
ORPHA:1198 |
| Sialidosis Type 2 |
|
Inguinal hernia, Flexion contracture, Hydrops fetalis, Pedal edema, Umbilical hernia, Ascites |
ORPHA:87876 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
| Urocanase Deficiency |
|
Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Muscular ventricular septal defect, Patent ductus arteriosus, Velopharyngeal insufficiency, Abnor... |
ORPHA:363444 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Bifid uvula, Cleft palate |
OMIM:258320 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Pedal edema, Atrial septal defect, Patent foram... |
ORPHA:439 |
| Pseudotrisomy 13 Syndrome |
|
Omphalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coa... |
OMIM:264480 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations |
OMIM:615048 |
| Acalvaria |
|
Omphalocele, Abnormal lung lobation, Cleft palate |
ORPHA:945 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
| Chondrodysplasia, Blomstrand Type |
|
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Preductal coarctation of the aorta |
OMIM:215045 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Thickened nuchal skin fold, Mitral atresia, Patent ductus arteriosus, Double outlet right ventric... |
OMIM:618164 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Abnormality of the gastrointestinal tract, Intestinal malrotation, Polyhydramnios, H... |
ORPHA:2241 |
| Diets-Jongmans Syndrome |
|
Inguinal hernia, Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Bree... |
OMIM:618846 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Clef... |
ORPHA:2257 |
| Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria |
ORPHA:363710 |
| Marden-Walker Syndrome |
|
Inguinal hernia, Dextrocardia, High, narrow palate, Pyloric stenosis, Cleft palate, Congenital co... |
OMIM:248700 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, High palate, Pulmonic stenosis, Atrial septal defect,... |
ORPHA:3304 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
| Trisomy 13 |
|
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Abnormal lung lobation,... |
ORPHA:3378 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Aplasia/Hypoplasia of the lungs, Hydrops fetalis, Polyhydramnios |
ORPHA:2204 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2141 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation... |
ORPHA:371428 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... |
ORPHA:2847 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:600363 |
| Diffuse Neonatal Hemangiomatosis |
|
Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites |
ORPHA:2123 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Inguinal hernia, Ventricular septal defect, Premature birth, Ca... |
ORPHA:354 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:300991 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... |
OMIM:617021 |
| Vacterl/Vater Association |
|
Omphalocele, Premature birth, Polyhydramnios, Congenital diaphragmatic hernia, Anorectal anomaly,... |
ORPHA:887 |
| Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Inguinal hernia, Abnormal pleura morphology, Lymphedema, Hydrop... |
ORPHA:584 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
| Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Hydrops fetalis, Polyhydramnios, Oligohydramnios |
ORPHA:163596 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H... |
ORPHA:2209 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria |
OMIM:617917 |
| Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
| Triploidy |
|
Omphalocele, Intestinal malrotation, Polyhydramnios, Cleft palate, Macroglossia, Abnormal cardiac... |
ORPHA:3376 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
| Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Polyhydramnios, Intesti... |
ORPHA:99776 |
| Miller-Dieker Syndrome |
|
Omphalocele, Polyhydramnios |
ORPHA:531 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Nuchal Bleb, Familial |
|
Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
| Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... |
ORPHA:99125 |
| Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:608644 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia |
ORPHA:324588 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Decreased fetal movement, Recurrent respiratory infections, Polyhydramnios, Increased connective ... |
OMIM:255320 |
| Mosaic Trisomy 1 |
|
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaph... |
ORPHA:1692 |
| Hydrops Fetalis, Nonimmune |
|
Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial... |
ORPHA:71517 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypoplasia, Dextrocardia,... |
OMIM:613686 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Intestinal malrotation, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:601163 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hydrops fetalis, Endocardial fibroelastosis |
OMIM:276822 |
| Czeizel-Losonci Syndrome |
|
Thickened nuchal skin fold, Posterolateral diaphragmatic hernia, Dextrocardia, Tracheoesophageal ... |
ORPHA:2437 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
| Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
| Gm1-Gangliosidosis, Type I |
|
Inguinal hernia, Abnormal heart valve morphology, Dilated cardiomyopathy, Hydrops fetalis, Cherry... |
OMIM:230500 |
| 3-Methylglutaconic Aciduria, Type Iv |
|
Biventricular hypertrophy, Inguinal hernia, Subvalvular aortic stenosis |
OMIM:250951 |
| Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... |
ORPHA:477817 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus |
OMIM:613608 |
| Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
| Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... |
ORPHA:3097 |
| Sotos Syndrome |
|
Decreased fetal movement, Ventricular septal defect, High, narrow palate, Muscular ventricular se... |
OMIM:117550 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
| Lymphatic Malformation 1 |
|
Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hypo... |
OMIM:153100 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
| Carpenter Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, ... |
OMIM:201000 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cleft palate, Abnormal aortic morphol... |
ORPHA:1166 |
| Down Syndrome |
|
Thickened nuchal skin fold, Prenatal double bubble sign, Ventricular septal defect, Aganglionic m... |
OMIM:190685 |
| Congenital Enterovirus Infection |
|
Decreased fetal movement, Premature birth, Fetal ascites, Polyhydramnios, Pericardial effusion, M... |
ORPHA:292 |
| Parkinsonism With Polyneuropathy |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:619279 |
| Ciliary Dyskinesia, Primary, 23 |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic bronchitis |
OMIM:615451 |
| Pseudodiastrophic Dysplasia |
|
Omphalocele |
ORPHA:85174 |
| Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Decreased fetal movement, Inguinal hernia, Polyhydramnios, Abnormality of the abdomi... |
OMIM:247200 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
| Pagod Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Situs inversus totalis, Pulmonary artery hypoplasia... |
ORPHA:991 |
| Alg12-Cdg |
|
Recurrent respiratory infections, Premature birth, Intestinal malrotation, Edema, Polyhydramnios,... |
ORPHA:79324 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Gastrointestinal ... |
ORPHA:436252 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Pyloric stenosis, Cleft palate, Abnormal heart mor... |
ORPHA:261197 |
| Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Premature birth, Congenital diaphragmatic hernia, Anorectal anomaly, Tracheoesophage... |
ORPHA:1834 |
| Opitz Gbbb Syndrome |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
ORPHA:2745 |
| X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph... |
OMIM:619227 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
| Chromosome 9P Deletion Syndrome |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, High, narrow palate, Patent ductus arter... |
OMIM:158170 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
| Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, ... |
OMIM:269860 |
| Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly |
OMIM:618838 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence, Dilated cardiomyopathy, Esoph... |
ORPHA:367 |
| Prune Belly Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Patent ductu... |
ORPHA:2970 |
| Parkinson Disease 22, Autosomal Dominant |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:616710 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
| Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l... |
OMIM:615524 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, High palate, Atrial septal defect, Tetralogy ... |
OMIM:612946 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Diastasis recti, Congenital diaphragmati... |
ORPHA:2092 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Dilated c... |
ORPHA:2326 |
| Schisis Association |
|
Omphalocele, Premature birth, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Cleft p... |
ORPHA:63862 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Cleft palate, Si... |
ORPHA:1926 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... |
OMIM:235510 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Umbilical hernia, Macroglossia |
OMIM:275100 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Dextrocardia |
OMIM:613095 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Flexion contracture, Hydrops fetalis, Cleft palate, Abnormal heart morphology, Single umbilical a... |
ORPHA:1865 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return, Hernia of the a... |
ORPHA:2184 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
| Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
| Johanson-Blizzard Syndrome |
|
Dextrocardia, Edema, Malabsorption, Anteriorly placed anus, Abnormal cardiac septum morphology, A... |
ORPHA:2315 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
| Urocanic Aciduria |
|
Action tremor, Ataxia, Truncal ataxia, Gait ataxia |
ORPHA:210128 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
| Free Sialic Acid Storage Disease |
|
Recurrent respiratory infections, Ascites, Hydrops fetalis, Aplasia/Hypoplasia of the abdominal w... |
ORPHA:834 |
| Trigonocephaly 1 |
|
Omphalocele, High, narrow palate, Meckel diverticulum |
OMIM:190440 |
| Distal Duplication 15Q |
|
Omphalocele, High palate, Camptodactyly of finger, Anal atresia |
ORPHA:1707 |
| Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, High palate, Double outle... |
OMIM:616652 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... |
OMIM:222448 |
| Fetal Gaucher Disease |
|
Decreased fetal movement, Fetal akinesia sequence, Flexion contracture, Hydrops fetalis, Intracra... |
ORPHA:85212 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Malabsorption, Mult... |
OMIM:615508 |
| Transketolase Deficiency |
|
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... |
ORPHA:488618 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
| Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
| Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot |
ORPHA:1919 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
| Feingold Syndrome Type 1 |
|
Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Patent ductus arteriosus, Gastrointestin... |
ORPHA:391641 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
| Melnick-Needles Syndrome |
|
Omphalocele, Recurrent respiratory infections, Abnormal cardiac septum morphology |
ORPHA:2484 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Intestinal malrotation, Polyhydramnios, Abnormal lung lobation, Cleft palate, Abnorm... |
ORPHA:2166 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Polyhydramnios, Megarectum, Pulmonic stenosis, Pulmonary artery atresi... |
OMIM:301056 |
| Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Hamartoma of tongue, Coarctation of aorta, Subvalvular ao... |
OMIM:217085 |
| Floating-Harbor Syndrome |
|
Inguinal hernia, Celiac disease, Coarctation of aorta, Atrial septal defect, Umbilical hernia, Me... |
OMIM:136140 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, High palate, Dextrocardia, Coarctation of aorta |
OMIM:618929 |
| Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
| Alg9-Cdg |
|
Thickened nuchal skin fold, Decreased fetal movement, Omphalocele, Villous atrophy, Ventricular s... |
ORPHA:79328 |
| Noonan Syndrome 12 |
|
Anteriorly placed anus, Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios |
OMIM:618624 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Macroglossia |
OMIM:614450 |
| Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:615504 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:615505 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Ede... |
OMIM:265300 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Decreased fetal movement, Double outlet right ventricle, Patent ductus arte... |
OMIM:614886 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Atrial septal defect, Patent foramen ovale, Hypoplastic tricuspi... |
OMIM:600001 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia |
OMIM:618049 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Cleft ... |
OMIM:616894 |
| Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis |
OMIM:613193 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... |
ORPHA:99050 |
| Mucopolysaccharidosis, Type Vii |
|
Abnormal heart valve morphology, Diastasis recti, Recurrent upper respiratory tract infections, F... |
OMIM:253220 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Bicuspid aortic valve, Cleft soft palate, Camptodactyly, Absent uvula |
OMIM:618529 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Codas Syndrome |
|
Omphalocele, Ventricular septal defect, Polyhydramnios, Gastroesophageal reflux, Rectovaginal fis... |
OMIM:600373 |
| Capillary Malformation-Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Cerebral arteriovenous malformation,... |
ORPHA:137667 |
| Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... |
ORPHA:229 |
| Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
| C Syndrome |
|
Omphalocele, High palate, Patent ductus arteriosus, Ventricular septal defect |
OMIM:211750 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Hydrops fe... |
ORPHA:268249 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... |
OMIM:132900 |
| Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
| Fibrochondrogenesis 1 |
|
Omphalocele, Hydrops fetalis, Cleft palate, Camptodactyly, Joint contracture of the hand, Patent ... |
OMIM:228520 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia |
ORPHA:306669 |
| Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus |
OMIM:619028 |
| Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis |
OMIM:617092 |
| Ciliary Dyskinesia, Primary, 24 |
|
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:615481 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis, Dysphagia |
ORPHA:477774 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
| Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Hernia |
ORPHA:96097 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
| Fetal Trimethadione Syndrome |
|
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... |
ORPHA:1913 |
| Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... |
ORPHA:210122 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... |
ORPHA:240085 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia |
OMIM:617916 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Gastroesophageal reflu... |
OMIM:249270 |
| Combined Oxidative Phosphorylation Deficiency 57 |
|
Hypertrophic cardiomyopathy, Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyop... |
OMIM:620167 |
| Chromosome 10Q26 Deletion Syndrome |
|
Atrial septal defect, High palate, Patent ductus arteriosus, Omphalocele |
OMIM:609625 |
| Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
| Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Single ... |
OMIM:601005 |
| Dilated Cardiomyopathy With Ataxia |
|
Muscular ventricular septal defect, Dilated cardiomyopathy |
ORPHA:66634 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
| Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Pa... |
OMIM:300373 |
| Renpenning Syndrome |
|
Heterotaxy, Cleft palate, High, narrow palate, Anal atresia |
ORPHA:3242 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Dextrocardia, Patent ductus arteriosus, Tracheoesophageal fistula, High palate, Atrial septal def... |
OMIM:277380 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
| Floating-Harbor Syndrome |
|
Celiac disease, Tetralogy of Fallot, Coarctation of aorta, Gastroesophageal reflux, Atrial septal... |
ORPHA:2044 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... |
OMIM:618877 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Dystonia |
OMIM:619911 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, High, narrow palate, Abnormal heart morphology, Contractures of the large joints, T... |
ORPHA:96092 |
| Ciliary Dyskinesia, Primary, 18 |
|
Situs inversus totalis, Abdominal situs ambiguus, Recurrent sinusitis, Chronic bronchitis |
OMIM:614874 |
| Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal pericardial effusion, Sing... |
OMIM:620244 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Recurrent upper respiratory t... |
OMIM:619769 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Abnormal lung lobation, Aortic valve stenosis, Pulmon... |
OMIM:615415 |
| Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Bronchiectasis, Pneumonia, Recurrent sinusitis |
OMIM:612444 |
| 15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
| Trisomy 18 |
|
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... |
ORPHA:3380 |
| Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Premature birth, Abnormality of subcutaneous fat tissu... |
ORPHA:79325 |
| Catel-Manzke Syndrome |
|
Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft palate, Coarcta... |
OMIM:616145 |
| Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arte... |
ORPHA:2306 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:615500 |
| Serkal Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Pulmonary... |
ORPHA:139466 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
OMIM:618454 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
| Mgat2-Cdg |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... |
ORPHA:79329 |
| Gm1 Gangliosidosis Type 1 |
|
Hydrops fetalis, Cardiomyopathy, Abnormal placenta morphology, Macroglossia, Abnormal odontoid ti... |
ORPHA:79255 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Premature birth, Nonimmune hydrops fetalis |
OMIM:618839 |
| Fryns Syndrome |
|
Omphalocele, Ventricular septal defect, Aganglionic megacolon, Polyhydramnios, Intestinal malrota... |
OMIM:229850 |
| Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Bronchiectasis |
OMIM:614017 |
| Gaucher Disease, Perinatal Lethal |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... |
OMIM:608013 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Polyhydramnios, Congenital diaphragmatic hernia, Hydrops fetalis, Cleft pala... |
OMIM:616546 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Premature birth, Nonimmune hydrops fetalis |
OMIM:618835 |
| Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Mitral valve calcification, Abnormal heart valve morphology, Pe... |
ORPHA:77261 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
| 3Mc Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Diastasis recti, Patent ductus arteriosus, Abnormality of... |
OMIM:257920 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myoclonus, Head tremor,... |
ORPHA:420492 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Prune belly, Anal atresia |
OMIM:601389 |
| Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... |
OMIM:261640 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... |
ORPHA:391411 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Intention tremor |
OMIM:610185 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, Choreoathetosis, Dystonia |
OMIM:612126 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
| Wolcott-Rallison Syndrome |
|
Atrial septal defect, Double outlet right ventricle, Ascites, Dehydration |
ORPHA:1667 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic... |
ORPHA:79263 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:620197 |
| Caudal Duplication |
|
Omphalocele, Intestinal duplication |
ORPHA:1756 |
| Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Recurrent sinusitis |
OMIM:612518 |
| Methimazole Embryofetopathy |
|
Ventricular septal defect, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Coarcta... |
ORPHA:1923 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Intestinal malrotation, Pulmonary hypoplasia |
ORPHA:3035 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus |
OMIM:614018 |
| 3C Syndrome |
|
Recurrent respiratory infections, Inguinal hernia, Ventricular septal defect, Abnormal mitral val... |
ORPHA:7 |
| Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... |
ORPHA:980 |
| Giant Cell Arteritis |
|
Glossitis, Pericarditis, Abnormal pleura morphology, Recurrent pharyngitis, Vasculitis, Gastroint... |
ORPHA:397 |
| Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... |
OMIM:115470 |
| Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Gastroesophageal reflux, Situs inversus totalis |
OMIM:619881 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites |
ORPHA:69735 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Fetal ascites, Ascending aorta hypoplasia, Flexion contracture, Knee flexion contracture, High pa... |
OMIM:619503 |
| Hennekam Syndrome |
|
Recurrent respiratory infections, Camptodactyly of finger, Lymphedema, Pericardial effusion, Mala... |
ORPHA:2136 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
| Meckel Syndrome, Type 7 |
|
Inguinal hernia, Situs inversus totalis, Patent ductus arteriosus, Right ventricular hypertrophy,... |
OMIM:267010 |
| Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cleft palate, Anal atresia |
ORPHA:95706 |
| Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
| Restrictive Dermopathy |
|
Decreased fetal movement, Multiple joint contractures, Premature birth, Dextrocardia, Polyhydramn... |
ORPHA:1662 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Re... |
OMIM:608647 |
| Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Agenesis of pulmonar... |
OMIM:601186 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Hydrops fetalis, Hepatocellular carcinoma |
ORPHA:88618 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Abnormality of the amniotic fluid, Dilated cardiomyopathy, Hydrops fetalis |
OMIM:609015 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Mitra... |
OMIM:612561 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Rigidity, Dysmetria, Gait ataxia |
OMIM:618090 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Tremor, Ataxia, Dysmetria, Gait ataxia |
OMIM:618387 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, High, narrow palate, Abn... |
ORPHA:91387 |
| Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Abnormal heart valve morphology, Camptodactyly of finger, Cleft palate, Glossoptosis... |
ORPHA:90652 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia |
ORPHA:101075 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Tetralogy of Fallot, Anal atresia |
ORPHA:1381 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia |
ORPHA:70594 |
| Necrotizing Enterocolitis |
|
Premature birth, Edema, Abnormal heart morphology, Gastroschisis, Ascites |
ORPHA:391673 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Double out... |
ORPHA:163956 |
| Farber Disease |
|
CNS foam cells, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory tract... |
ORPHA:333 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Hydrops fetalis, Cleft pa... |
OMIM:263520 |
| Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr... |
ORPHA:1596 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, V... |
OMIM:126320 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... |
OMIM:619608 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Hypertrophic cardiomyopathy, Inguinal hernia, Lipoid pneumonia |
OMIM:620326 |
| German Syndrome |
|
Camptodactyly of finger, Lymphedema, Abnormal cardiac septum morphology, High palate, Dysphagia, ... |
ORPHA:2077 |
| Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:614935 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Muscular ventricular septal defect |
OMIM:618569 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Polyhydramnios, High, narrow ... |
OMIM:619472 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Inguinal hernia, Diastasis recti, Polyhydramnios, Large placenta, Flexion contractur... |
ORPHA:254528 |
| Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs inversus totalis, Pyloric... |
ORPHA:2461 |
| Ciliary Dyskinesia, Primary, 12 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis |
OMIM:612650 |
| Ciliary Dyskinesia, Primary, 32 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis |
OMIM:616481 |
| Holoprosencephaly |
|
Omphalocele, Median cleft lip and palate, Ventricular septal defect, Abnormal pulmonary valve mor... |
ORPHA:2162 |
| Grange Syndrome |
|
Coronary artery stenosis, Bicuspid aortic valve, Renal artery stenosis, Carotid artery stenosis |
OMIM:602531 |
| Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Dextrocardia, Cleft palate |
ORPHA:220493 |
| Congenital Tracheal Stenosis |
|
Meckel diverticulum, Ventricular septal defect, Fetal ascites, Polyhydramnios, Ascending aorta hy... |
ORPHA:141127 |
| Idiopathic Neonatal Atrial Flutter |
|
Hydrops fetalis, Fetal distress |
ORPHA:45452 |
| Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palate, Cleft palate, H... |
OMIM:301043 |
| Kawasaki Disease |
|
Glossitis, Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Recurrent pharyngit... |
ORPHA:2331 |
| Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
| Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
| Bladder Exstrophy |
|
Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm... |
ORPHA:93930 |
| Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
| Velocardiofacial Syndrome |
|
Inguinal hernia, Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard pa... |
OMIM:192430 |
| Agnathia-Otocephaly Complex |
|
Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Pu... |
OMIM:202650 |
| Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
| Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical... |
ORPHA:1519 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
| Platyspondylic Dysplasia, Torrance Type |
|
Cleft palate, Pulmonary hypoplasia, Hydrops fetalis, Polyhydramnios |
ORPHA:85166 |
| Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... |
OMIM:609008 |
| Cardiospondylocarpofacial Syndrome |
|
Decreased fetal movement, Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ve... |
OMIM:157800 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Ch... |
OMIM:613808 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Decreased fetal movement, Inguinal hernia, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrha... |
ORPHA:536545 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... |
ORPHA:101 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia |
ORPHA:101078 |
| Meckel Syndrome, Type 1 |
|
Omphalocele, Intestinal malrotation, Camptodactyly of finger, Breech presentation, Large placenta... |
OMIM:249000 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis |
OMIM:614831 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Congenital diaph... |
ORPHA:2255 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
| Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait |
OMIM:616795 |
| Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... |
ORPHA:254881 |
| Cystathioninuria |
|
Tremor |
ORPHA:212 |
| Lopes-Maciel-Rodan Syndrome |
|
Tremor, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia, Spasticity |
OMIM:617435 |
| Mullegama-Klein-Martinez Syndrome |
|
Congenital diaphragmatic hernia, Cleft palate, Coarctation of aorta, Submucous cleft of soft and ... |
OMIM:301022 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls |
OMIM:616719 |
| Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Opisth... |
OMIM:607483 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Pedal edema, Abnormal heart morpho... |
ORPHA:2041 |
| Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hypoplastic colon, Hypoplasia of the small intestine, Pulmonary hypoplasia, Extrapul... |
OMIM:200995 |
| Marshall-Smith Syndrome |
|
Omphalocele, Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, Recurrent upp... |
OMIM:602535 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... |
ORPHA:1727 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Villous atrophy, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Abnormal s... |
OMIM:212065 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Inguinal hernia, Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Contracture ... |
OMIM:280000 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Narrow palate, Cleft palate, Contracture of the proximal interphalangea... |
OMIM:618223 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Ataxia, Dysmetria, Titubation |
OMIM:619405 |
| Neurooculorenal Syndrome |
|
Dextrocardia, Intestinal malrotation, Anhydramnios, Mitral valve prolapse, Anteriorly placed anus... |
OMIM:620305 |
| Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism |
ORPHA:178509 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Overriding aorta, Tetralogy of Fallot |
ORPHA:3186 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... |
OMIM:612474 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph... |
OMIM:128100 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Breech presentation, Mu... |
OMIM:210710 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... |
OMIM:618901 |
| Congenital Tracheomalacia |
|
Cardiomegaly, Gastroesophageal reflux, Atrial septal defect, Emphysema, Single ventricle, Prematu... |
ORPHA:95430 |
| Okamoto Syndrome |
|
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Ventricular septal defect, Intestin... |
ORPHA:2729 |
| 8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophi... |
ORPHA:251071 |
| Knobloch Syndrome |
|
Pyloric stenosis, Patent ductus arteriosus, Dextrocardia |
ORPHA:1571 |
| Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Submu... |
OMIM:300166 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
| Loeys-Dietz Syndrome 4 |
|
Inguinal hernia, Broad uvula, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, ... |
OMIM:614816 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Hamartoma of tongue, Patent ductus arteriosus, Cleft palate, Lobulated tongue, Pulmo... |
OMIM:616300 |
| Isolated Anencephaly |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:563609 |
| Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ... |
OMIM:617013 |
| Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Microglossia, High palate |
OMIM:612776 |
| Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Meckel diverticulum, Ventricular septal defect, Premat... |
ORPHA:1708 |
| Charge Syndrome |
|
Polyhydramnios, Secundum atrial septal defect, Atrial septal defect, Pulmonary artery atresia, Ov... |
OMIM:214800 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Bronchiectasis |
OMIM:615434 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Ventricular septal defect, Situs inversus totalis, Cleft palate, Pulmonary artery atresia, Tetral... |
ORPHA:1908 |
| Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:231100 |
| Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
| Cranioectodermal Dysplasia 2 |
|
Inguinal hernia, Polyhydramnios, Patent ductus arteriosus, Recurrent pneumonia, Hydrops fetalis, ... |
OMIM:613610 |
| Meckel Syndrome, Type 2 |
|
Omphalocele, Intestinal malrotation, Cleft palate |
OMIM:603194 |
| Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Hepatoblastoma, Polyhydramnios, Congenit... |
ORPHA:373 |
| Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... |
OMIM:613280 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short uvula, Hydrops fetalis, Cleft palate, High palate, Pulmonary hypoplasia, Ascites |
OMIM:614091 |
| Limb Body Wall Complex |
|
Ventral hernia, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abdo... |
ORPHA:2369 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Decreased fetal movement, Inguinal hernia, Multiple joint contractures, Congenital diaphragmatic ... |
OMIM:265000 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
| Long Qt Syndrome 3 |
|
Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:603830 |
| Spinocerebellar Ataxia Type 27 |
|
Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia |
ORPHA:98764 |
| Hydrolethalus Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, A... |
OMIM:236680 |
| Exstrophy-Epispadias Complex |
|
Omphalocele, Abnormality of the gastrointestinal tract, Inguinal hernia, Anal stenosis, Cystocele... |
ORPHA:322 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Bilateral fetal pyelectasis, Polyhydramnios, Breech presentation, Patent ductus ... |
OMIM:300868 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Cleft pala... |
OMIM:611812 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... |
OMIM:619534 |
| Wrinkly Skin Syndrome |
|
Inguinal hernia, Muscular ventricular septal defect, Premature rupture of membranes, High palate,... |
OMIM:278250 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulm... |
OMIM:137940 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Inguinal hernia, Cleft soft palate, Secundum atrial septal defect, Increased nuchal translucency,... |
OMIM:620183 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
| Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Decreased fetal movement, Inguinal hernia, Anal stenosis, Flexion contracture, Cleft... |
OMIM:263650 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Paraparesis, Ataxia |
ORPHA:99014 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
| Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... |
OMIM:311510 |
| Gaucher Disease |
|
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Aor... |
ORPHA:355 |
| Nephronophthisis 2 |
|
Situs inversus totalis, Pulmonary hypoplasia, Oligohydramnios |
OMIM:602088 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Coronary artery stenosis, Stroke |
OMIM:615812 |
| Blomstrand Lethal Chondrodysplasia |
|
Premature birth, Polyhydramnios, Protruding tongue, Hydrops fetalis, Coarctation of aorta, Pulmon... |
ORPHA:50945 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Femoral hernia, Protruding tongue, Conotruncal defect, Coarctation of aorta, Mac... |
ORPHA:96147 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis, Cleft palate |
OMIM:616738 |
| Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Progressive spasticity, Truncal ataxia, Frequent falls |
OMIM:210000 |
| Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, High palate, Cam... |
OMIM:249420 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Premature birth, Diastasis recti, Polyhydramnios, Large placenta, D... |
ORPHA:254519 |
| Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Dilatation of the ventricular cavity, Coronary artery stenos... |
ORPHA:66529 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Hydrops fetalis |
ORPHA:766 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
| Campomelia, Cumming Type |
|
Lymphedema, Hydrops fetalis, Cleft palate, Abnormal intestine morphology, Oligohydramnios |
ORPHA:1318 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Abnormal cardiomyocyte morphology, Cardiomyopathy, Renal artery atherosclerosis, Coronary artery ... |
ORPHA:565612 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehydration, Abnormal heart morphol... |
ORPHA:79282 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Spasticity |
OMIM:607694 |
| Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, High, narrow palate, Patent ductus arteriosus, Narrow palat... |
OMIM:614976 |
| Alpha-Thalassemia |
|
Hydrops fetalis |
ORPHA:846 |
| Tangier Disease |
|
Left ventricular hypertrophy, Accelerated atherosclerosis, Coronary artery stenosis, Carotid arte... |
ORPHA:31150 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Conotruncal defect |
OMIM:243440 |
| Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Patent ductus arteriosu... |
OMIM:612562 |
| Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia, Cleft palate |
OMIM:619895 |
| Congenital Myopathy 22B, Severe Fetal |
|
Decreased fetal movement, Hip contracture, Limb joint contracture, Nonimmune hydrops fetalis, Pol... |
OMIM:620369 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Diastasis recti, Cardiomegaly, Cardiomyopathy, Macroglossia, Placental mesenchymal d... |
OMIM:130650 |
| Achondrogenesis, Type Ia |
|
Polyhydramnios, Protruding tongue, Increased nuchal translucency, Hydrops fetalis, Pulmonary hypo... |
OMIM:200600 |
| Adams-Oliver Syndrome 5 |
|
Inguinal hernia, Right atrial enlargement, Esophageal varix, Pulmonic stenosis, Umbilical hernia,... |
OMIM:616028 |
| Thakker-Donnai Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Rectovagin... |
ORPHA:1780 |
| Melnick-Needles Syndrome |
|
Omphalocele, Recurrent respiratory infections, Cleft palate, Mitral valve prolapse, Tricuspid val... |
OMIM:309350 |
| Isolated Cleft Lip |
|
Situs inversus totalis, Umbilical hernia, Velopharyngeal insufficiency, Polyhydramnios |
ORPHA:199302 |
| Achondrogenesis, Type Ii |
|
Cleft palate, Polyhydramnios, Hydrops fetalis, Edema |
OMIM:200610 |
| Schneckenbecken Dysplasia |
|
Umbilical hernia, Cleft palate, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:269250 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Limb ataxia, Gait ataxia, Truncal ataxia, Oculomotor apraxia |
OMIM:208920 |
| Acitretin/Etretinate Embryopathy |
|
Premature birth, Conotruncal defect, High palate, Atrioventricular canal defect, Median cleft palate |
ORPHA:40366 |
| Alagille Syndrome 2 |
|
Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:610205 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia |
OMIM:618060 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Omphalocele, Ventricular septal defect, Premature birth, Polyhydramnios, Diastasis recti, Hepatob... |
ORPHA:96334 |
| Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Incr... |
OMIM:605275 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Edema... |
ORPHA:51608 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dystonia, Spasticity |
ORPHA:542310 |
| Galactosialidosis |
|
Cherry red spot of the macula, Nonimmune hydrops fetalis |
OMIM:256540 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, High, narrow palate, Increased nuchal tr... |
ORPHA:3472 |
| Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation |
ORPHA:2328 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Inguinal hernia, Morga... |
OMIM:613177 |
| Tetrasomy 9P |
|
Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Abnormal dental enamel morpholo... |
ORPHA:3310 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Inguinal hernia, Premature birth, Diastasis recti, Polyhydramnios, Cardiomegaly, Con... |
ORPHA:116 |
| Otopalatodigital Syndrome, Type I |
|
Omphalocele, Cleft palate |
OMIM:311300 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hydrops fetalis |
OMIM:613673 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Arthrogryposis multiplex congenita, Nonimmune hydrops fetalis, Cleft palate |
OMIM:618265 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Inguinal hernia, Congenital diaphragmatic hernia, Ascending tub... |
OMIM:219100 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:168600 |
| Ververi-Brady Syndrome |
|
Single umbilical artery, High palate, Transposition of the great arteries |
OMIM:617982 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity |
OMIM:616840 |
| Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
| Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum atrial septal d... |
ORPHA:1329 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... |
ORPHA:240071 |
| Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
| Warsaw Breakage Syndrome |
|
High palate, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
| Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Cleft soft palate, A... |
ORPHA:124 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, High palate, Transposition of the great arteries, Pulmo... |
OMIM:617877 |
| Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm... |
OMIM:312080 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Microglossia, Polyhydramnios |
ORPHA:990 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... |
OMIM:614381 |
| Niemann-Pick Disease Type C |
|
Fetal ascites, Bone-marrow foam cells, Abnormal lung morphology, Aplasia/Hypoplasia of the abdomi... |
ORPHA:646 |
| Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
| Cloacal Exstrophy |
|
Omphalocele, Intestinal malrotation, Intestinal duplication, Bladder exstrophy, Cloacal exstrophy... |
ORPHA:93929 |
| Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Ventricular septal defect, Complete atrioventricular canal defect, Cleft palate, D... |
OMIM:617063 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Cleft palate, Coarc... |
OMIM:600460 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Esophageal diverticulum, Hamartoma of tongue, Complete atrioventricular canal defect, Cleft palat... |
OMIM:617925 |
| Iniencephaly |
|
Omphalocele, Polyhydramnios, Congenital diaphragmatic hernia, Gastroschisis, Arthrogryposis multi... |
ORPHA:63259 |
| Fibrochondrogenesis |
|
Omphalocele, Camptodactyly of finger, Cleft palate |
ORPHA:2021 |
| Pearson Syndrome |
|
Hydrops fetalis, Dehydration, Abnormal heart morphology, Corneal stromal edema, Cardiomyopathy, S... |
ORPHA:699 |
| Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Premature birth, Aganglionic megacolon, Congenital diaphragmatic herni... |
OMIM:154400 |
| Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Focal dystonia, A... |
ORPHA:52368 |
| Hamamy Syndrome |
|
Inguinal hernia, Complete atrioventricular canal defect, High palate, Atrial septal defect, Ename... |
OMIM:611174 |
| Autoimmune Lymphoproliferative Syndrome |
|
Gastritis, Vasculitis, Hydrops fetalis, Colitis, Panniculitis, Pulmonary fibrosis, Hepatocellular... |
ORPHA:3261 |
| Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Ventricular septal defect, Aganglionic megacolon, Hamartoma of ... |
OMIM:174300 |
| Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Flexion contracture, Cleft palate |
OMIM:619124 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Bifid uvula, Cleft soft palate, Cleft palate |
ORPHA:2736 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Spasticity |
OMIM:616586 |
| Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Polyhydramnios, Abnormal dental enamel morpholo... |
ORPHA:818 |
| Greenberg Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... |
OMIM:215140 |
| Williams-Beuren Syndrome |
|
Colonic diverticula, Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Retinal a... |
OMIM:194050 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
| Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Anal stenosis, Anteriorly placed anus |
OMIM:248450 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:615530 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele |
ORPHA:3329 |
| Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Inguinal hernia, Ventricular septal defect, Bronchiectasis, Uterine prolapse, Emphysema, Peripher... |
OMIM:123700 |
| Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia, Anal atresia |
ORPHA:63260 |
| Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Hip contracture, Premature birth, Nonimmune hydrops fetalis, Polyhydram... |
OMIM:208150 |
| Acrocardiofacial Syndrome |
|
Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Cleft palate, Coarctation of... |
ORPHA:2008 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Inguinal hernia, Aganglionic megacolon, Recurrent upper respiratory tract infections... |
OMIM:308205 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Situs inversus totalis, Atelectasis, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
| Syndromic Diarrhea |
|
Inguinal hernia, Villous atrophy, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastom... |
ORPHA:84064 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Inguinal hernia, Ventricular septal defect, Complete atrioventricula... |
ORPHA:508488 |
| Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Cleft palate, Ectopic... |
ORPHA:2473 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia |
ORPHA:240094 |
| Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Abnormal coronary artery morphology, Transient ischemi... |
ORPHA:167635 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... |
OMIM:618748 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Pyloric stenosis, Diastasis recti, Anal atresia |
OMIM:618419 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
| Osteogenesis Imperfecta, Type Ii |
|
Premature birth, Nonimmune hydrops fetalis |
OMIM:166210 |
| Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Abnormal lung lobation, Asci... |
OMIM:617667 |
| Tropical Endomyocardial Fibrosis |
|
Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Myocardial calcification... |
ORPHA:75565 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Pneumonia, Respiratory tract infection, Atelectasis, Recurre... |
ORPHA:51636 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema |
OMIM:607823 |
| Kleefstra Syndrome 1 |
|
Recurrent respiratory infections, Protruding tongue, Conotruncal defect, Macroglossia, Gastroesop... |
OMIM:610253 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Abnor... |
OMIM:614298 |
| Perry Syndrome |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:168605 |
| Poland Syndrome |
|
Atrial septal defect, Absence of subcutaneous fat, Dextrocardia, Congenital diaphragmatic hernia |
ORPHA:2911 |
| Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ... |
ORPHA:48818 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
| Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Polyhydramnios, Congenital diaphragmatic hernia, Flexion contracture... |
OMIM:601803 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect, High palate |
ORPHA:476126 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... |
OMIM:618056 |
| O'Sullivan-Mcleod Syndrome |
|
Tremor, Fasciculations |
ORPHA:99965 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Intestinal malrotation, Situs inversus totalis, Patent ductus arteriosus, Pulmonary hypoplasia, A... |
OMIM:208540 |
| Oeis Complex |
|
Omphalocele, Intestinal malrotation, Anteriorly placed anus, Rectovaginal fistula, Duplicated col... |
OMIM:258040 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign... |
ORPHA:99027 |
| Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Malabsorption, Hydrops fetalis, Dehydration, Steatorrhea |
OMIM:557000 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
| Mucopolysaccharidosis, Type Ivb |
|
Inguinal hernia, Grayish enamel, Recurrent upper respiratory tract infections, Intimal thickening... |
OMIM:253010 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Transposition of the great arte... |
OMIM:253800 |
| Doors Syndrome |
|
Thickened nuchal skin fold, Abnormal placental membrane morphology, Polyhydramnios, Cleft palate,... |
ORPHA:79500 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... |
OMIM:613795 |
| Shprintzen Omphalocele Syndrome |
|
Omphalocele, Single umbilical artery, Anal atresia |
OMIM:182210 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
| Phocomelia, Schinzel Type |
|
High, narrow palate, Tracheoesophageal fistula, Hydrops fetalis, Cleft palate, Anal atresia |
ORPHA:2879 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ataxia, Head ... |
OMIM:606002 |
| Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Elbow contracture, Cleft palate, Atrial septal defect, Umbilical hernia, Dilatation ... |
OMIM:304120 |
| Fraser Syndrome |
|
Omphalocele, Anal stenosis, Abnormal lung lobation, Ectopic anus, High palate, Pulmonary hypoplas... |
ORPHA:2052 |
| Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Anteriorly placed anus, Single umbilical artery, Camptodactyly, Abse... |
OMIM:200110 |
| C Syndrome |
|
Omphalocele, Polyhydramnios, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the abdominal... |
ORPHA:1308 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Esophageal atresia, Hydrops fetalis, Ectopic anus, Pulmonary hypoplasia, Bifid tongu... |
ORPHA:93271 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hydrops fetalis |
OMIM:224120 |
| Penile Agenesis |
|
Ventricular septal defect, Cloacal abnormality, Rectal fistula, Fetal pyelectasis, Anorectal anom... |
ORPHA:49 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Premature delivery because of cervical insufficiency or membrane fragility, Nodular pattern on pu... |
OMIM:130050 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Diastasis recti, Intestinal malrotation, Hiatus hernia, Congenital ... |
OMIM:305600 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Premature birth, Polyhydramnios, Pyloric stenosis, Hydrops fetalis, Ca... |
OMIM:216340 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele, Gastroesophageal reflux, Anal atresia |
ORPHA:3164 |
| Leopard Syndrome 1 |
|
Complete atrioventricular canal defect, Cleft palate, Mitral valve prolapse, Pulmonic stenosis, S... |
OMIM:151100 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Jejunal atresia, Ileal atresia |
OMIM:618820 |
| Holoprosencephaly 7 |
|
Omphalocele, Bilateral cleft palate, Cleft palate, Unilateral cleft palate, Median cleft palate, ... |
OMIM:610828 |
| Neu-Laxova Syndrome 1 |
|
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Fetal akinesia sequence, Pat... |
OMIM:256520 |
| Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia, Peripheral pulmonary vessel aplasia, Cleft palate, Single umbili... |
OMIM:273395 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis |
OMIM:602522 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Nonimmune hydrops fetalis |
OMIM:266200 |
| Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Hypopl... |
OMIM:100300 |
| Diphallia |
|
Abnormality of the gastrointestinal tract, Duplicated colon, Inguinal hernia, Rectoperineal fistu... |
ORPHA:227 |
| Ablepharon Macrostomia Syndrome |
|
Omphalocele, Umbilical hernia, Camptodactyly of finger |
ORPHA:920 |
| Hereditary Elliptocytosis |
|
Hydrops fetalis |
ORPHA:288 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Recurrent respiratory infections, Inguinal hernia, Aganglionic megacolon, Abnormal d... |
ORPHA:2273 |
| Hypoglossia-Hypodactyly Syndrome |
|
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Gastroschisis, Anal... |
ORPHA:989 |
| Phace Syndrome |
|
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... |
ORPHA:42775 |
| Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
| Hepatoerythropoietic Porphyria |
|
Nonimmune hydrops fetalis, Edema, Scarring, Scarring alopecia of scalp, Abnormality of the amniot... |
ORPHA:95159 |
| Congenital Erythropoietic Porphyria |
|
Nonimmune hydrops fetalis, Edema, Increased stool urobilinogen concentration, Scarring, Scarring ... |
ORPHA:79277 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Congenital diaphragmatic hernia, Abnormal lung lobation, Hepatoblastoma, Atrial s... |
OMIM:312870 |
| Vater/Vacterl Association |
|
Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistul... |
OMIM:192350 |
| Chime Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Cleft palate, Transposition of the great arteries... |
ORPHA:3474 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, C... |
OMIM:234200 |
| Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Abnormal internal carotid artery morphology, Peripheral arterial sten... |
ORPHA:391665 |
| Duplication Of Urethra |
|
Rectourethral fistula, Anorectal anomaly, Gastroschisis, Anal fistula, Anal atresia |
ORPHA:237 |
| Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Retrocollis, Limb d... |
OMIM:601104 |
