| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor |
OMIM:616736 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor |
OMIM:619491 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
| Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Abdominal s... |
OMIM:605376 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... |
OMIM:618254 |
| Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:607688 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Right Atrial Isomerism |
|
Atrial septal defect, Inguinal hernia, Pulmonic stenosis, Single ventricle, Right atrial isomeris... |
OMIM:208530 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity |
ORPHA:401840 |
| Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea |
OMIM:611031 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
| Cerebellar Ataxia And Albinism |
|
Ataxia, Head tremor |
OMIM:258300 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... |
OMIM:606217 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
| Fetal Encasement Syndrome |
|
Decreased fetal movement, Congenital diaphragmatic hernia, Tetralogy of Fallot, Omphalocele |
OMIM:613630 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:168100 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia, Single umbilical artery, Hydrops fetalis, Ventricular septa... |
ORPHA:3405 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Episodic Ataxia, Type 8 |
|
Intention tremor, Ataxia, Slurred speech, Episodic ataxia |
OMIM:616055 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... |
OMIM:619702 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Hydrops fetalis, Premature birth, Ventricular septal defect, Oligohydramnio... |
ORPHA:1909 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... |
OMIM:616749 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... |
OMIM:614561 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Lymphedema, Pa... |
OMIM:601927 |
| Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory ... |
OMIM:615482 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... |
OMIM:607671 |
| Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Campto... |
OMIM:619343 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft palate, Ventricular septal defect, Transposition of the grea... |
OMIM:231060 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
| Lethal Congenital Contracture Syndrome 10 |
|
High palate, Narrow palate, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Pulmonar... |
OMIM:617022 |
| Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hypertrophic cardiomyopathy, Hydrops fetalis, Ascites |
ORPHA:295 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
| Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, R... |
OMIM:615067 |
| Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Thickened nuchal skin f... |
OMIM:618164 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
ORPHA:85292 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Right aortic arch, Bronchiectasis |
OMIM:617577 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia |
OMIM:615945 |
| Chromosome 15Q25 Deletion Syndrome |
|
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Cleft palate, Inguinal herni... |
OMIM:614294 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
High palate, Congenital diaphragmatic hernia, Coronary-pulmonary artery fistula, Patent foramen o... |
OMIM:619699 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus |
OMIM:616921 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... |
OMIM:619657 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Tremor, Hemiballismus, Chorea |
ORPHA:494526 |
| Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Dextrocardia, Recurrent pneumonia, Bronchiectasis |
OMIM:611884 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
| Parkinson Disease 17 |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
| Dystonia 24 |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Head tremor |
OMIM:615034 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
| Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... |
ORPHA:99657 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Diastasis recti, Large placenta, Ventricular septal defect, Polyhydramnios, Omphalocele, Umbilica... |
ORPHA:254534 |
| Catel-Manzke Syndrome |
|
High palate, Cleft palate, Inguinal hernia, Glossoptosis, Coarctation of aorta, Camptodactyly, Ve... |
OMIM:616145 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:600116 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus |
ORPHA:308 |
| Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Dextrocardia, Bronchiectasis |
OMIM:618063 |
| Ciliary Dyskinesia, Primary, 30 |
|
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Bronchiectasis, Recurrent respiratory i... |
OMIM:616037 |
| Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Bradykinesia, Resting tremor |
OMIM:616710 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... |
OMIM:618845 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Transaldolase Deficiency |
|
Atrial septal defect, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Edema |
ORPHA:101028 |
| Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
| Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis |
OMIM:614679 |
| Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Atrial septal defect, Cellulitis, Hydrops fetalis, Patent ductu... |
ORPHA:90308 |
| Dystonia 23 |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Writer's cramp, Limb dystonia |
OMIM:614860 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Cleft palate, Heterotaxy, Pulmonic stenosi... |
ORPHA:3426 |
| Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Omphalocele, Umbilical hernia, ... |
ORPHA:1686 |
| Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Cleft palate, Ectopia cordis, Ventral hernia, Pulmonary hypoplas... |
OMIM:313850 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Atrioventricular canal defect, Ventricular septal defect, Omphalocele, C... |
OMIM:306955 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Abnormality of the gastrointestinal tract, Polyhydramnios, Twin-to-twi... |
ORPHA:1041 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
| Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia, Scimitar anomaly, ... |
OMIM:618280 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Hypoplastic left heart, Cleft palate, Ventricular septal defect, Gastroschisis |
ORPHA:2476 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... |
ORPHA:420485 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Total anomalous pulmonary venous return, Recurrent respiratory infections |
OMIM:106700 |
| Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
| Dystonia 16 |
|
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Postural tremor |
ORPHA:210571 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
| Dextrocardia |
|
Congenital malformation of the great arteries, Intestinal malrotation, Abnormal lung lobation, Si... |
ORPHA:1666 |
| Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
| Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Lymphatic Malformation 7 |
|
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... |
OMIM:617300 |
| Omphalocele |
|
Premature birth, Omphalocele |
ORPHA:660 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Blepharospasm, Torsion dystonia |
OMIM:224500 |
| Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Pulmonic stenosis, Restrictive cardiomyopathy, Hydrops fetalis, Ascites |
OMIM:619433 |
| Coronary Artery Dissection, Spontaneous |
|
Coronary artery dissection, Cystic medial necrosis |
OMIM:122455 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Thickened nuchal skin fold, Abnormal lung l... |
OMIM:263210 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Abdominal situs inversus |
OMIM:619607 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign |
OMIM:300660 |
| Neuraminidase Deficiency |
|
Facial edema, Cherry red spot of the macula, Inguinal hernia, Hydrops fetalis, Ascites, Bone-marr... |
OMIM:256550 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Flexion contracture, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal ... |
OMIM:618815 |
| Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Camptodactyly of finger, Dextrocardia, Duodenal stenosis, Abnormal tricus... |
ORPHA:1759 |
| Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... |
OMIM:606324 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Cardiomyopathy, Flexion contracture |
OMIM:608540 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Anal atresia, Camptodactyly of finger, Dextrocardia, Patent ductus arteriosus |
ORPHA:2863 |
| Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Recurrent sinopulmonary infecti... |
ORPHA:244 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Aortic valve stenosis, Atrial septal defect, Hypopla... |
OMIM:220210 |
| Cardiac Valvular Dysplasia 1 |
|
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Inguinal hernia, Hydrops fetalis, A... |
OMIM:212093 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Cleft palate |
OMIM:221950 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia |
OMIM:608105 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
| Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis |
OMIM:606763 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Situs inversus totalis, Dextrocardia, Unilateral vertebral artery hypoplasia |
OMIM:613686 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Duodenal atresia, Enterocolitis, Intestinal atresia, Intestinal malrotation, Ileal atresia, Hemat... |
OMIM:243150 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Nonimmune hydrops fetalis, Hydrops fetalis, Pulmonary hypoplasia |
OMIM:613124 |
| Ciliary Dyskinesia, Primary, 22 |
|
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Re... |
OMIM:615444 |
| Glycogen Storage Disease Iv |
|
Hydrops fetalis, Polyhydramnios, Esophageal varix, Arthrogryposis multiplex congenita, Edema, Asc... |
OMIM:232500 |
| Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Gastroesophageal reflux, Pulmonic stenosis, Hydrops fetalis, Pleural effusion, ... |
ORPHA:2414 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Intention tremor, Ataxia, Action tremor |
OMIM:302500 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Stroke, Myofiber disarray, Pulmonary edema, Muscular ventricular septal... |
OMIM:115197 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:618316 |
| Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... |
OMIM:618300 |
| Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Heterotaxy, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recu... |
OMIM:613807 |
| Dystonia 7, Torsion |
|
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... |
OMIM:602124 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Duodenal atresia, Atrial septal defect, Double inlet left ventricl... |
OMIM:270100 |
| Achondrogenesis |
|
Inguinal hernia, Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios, Umbilical hernia, A... |
ORPHA:932 |
| Kagami-Ogata Syndrome |
|
Diastasis recti, Atrial septal defect, Inguinal hernia, Flexion contracture, Pulmonic stenosis, V... |
OMIM:608149 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Intention tremor |
OMIM:617863 |
| Lymphatic Malformation 12 |
|
Recurrent upper and lower respiratory tract infections, Fetal pericardial effusion, Inguinal hern... |
OMIM:620014 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Nonimmune hydrops fetalis... |
OMIM:265380 |
| Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... |
OMIM:619371 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Intestinal malrotation, Ventricular septal defect, Umbilical her... |
ORPHA:2143 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Mulibrey Nanism |
|
Myocardial fibrosis, Hydrops fetalis, Recurrent lower respiratory tract infections, Enamel hypopl... |
OMIM:253250 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor |
ORPHA:401835 |
| Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Polyhydramnios, Omphalocel... |
ORPHA:1263 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion |
OMIM:618773 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Nonimmune hydrops fetalis, Pulmonary hypoplasia, Cardiomyopathy |
OMIM:619003 |
| Fryns Syndrome |
|
High palate, Abnormal cardiac septum morphology, Ectopic anus, Anal atresia, Aganglionic megacolo... |
ORPHA:2059 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Bilateral cleft lip and palate, Omphalocele |
OMIM:601357 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Omphalocele |
ORPHA:93267 |
| Pentalogy Of Cantrell |
|
Atrial septal defect, Congenital diaphragmatic hernia, Abnormal pericardium morphology, Cleft pal... |
ORPHA:1335 |
| Spinocerebellar Ataxia Type 28 |
|
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... |
ORPHA:101109 |
| Infantile Sialic Acid Storage Disease |
|
High palate, Hydrops fetalis, Ascites, Premature birth, Cardiomegaly |
OMIM:269920 |
| Trisomy 1Q |
|
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Camptodactyly of finger, Hydrops fet... |
ORPHA:261344 |
| Sandestig-Stefanova Syndrome |
|
High palate, Muscular ventricular septal defect, Camptodactyly, Perimembranous ventricular septal... |
OMIM:618804 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function |
OMIM:615362 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia |
OMIM:607458 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
| Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios, Femoral hernia, Umbilical hernia, Ap... |
ORPHA:93298 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... |
ORPHA:79262 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Esophageal Atresia |
|
Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Pyloric stenosis, Pulmonary h... |
ORPHA:1199 |
| Gastroschisis |
|
Gastroschisis, Abdominal wall defect |
OMIM:230750 |
| Lymphatic Malformation 6 |
|
Atrial septal defect, Chylothorax, Gastroesophageal reflux, Prune belly, Cellulitis, Facial edema... |
OMIM:616843 |
| Encephalopathy, Recurrent, Of Childhood |
|
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordination |
OMIM:130950 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Ataxia, Hemiparesis |
OMIM:141500 |
| Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Joint contracture of the hand, Pulmonic sten... |
OMIM:179613 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity |
OMIM:615768 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
| Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Parkinsonism, Oromotor apr... |
ORPHA:454887 |
| Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Polyhydramnios, Pulmonary hypoplasia, Oligohydramnios, Premature birth |
ORPHA:3033 |
| Achondrogenesis, Type Ib |
|
Inguinal hernia, Hydrops fetalis, Polyhydramnios, Edema, Umbilical hernia, Breech presentation |
OMIM:600972 |
| Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios, Femoral hernia, Umbilical hernia, Ap... |
ORPHA:93299 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Dystonia |
OMIM:605909 |
| Parkinson Disease 21 |
|
Tremor, Rigidity, Bradykinesia, Parkinsonism |
OMIM:616361 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Coronary artery fistula, Patent ductus arteriosus, Atrial septal defect |
OMIM:620024 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia |
OMIM:615924 |
| Omphalocele, Autosomal |
|
Inguinal hernia, Omphalocele |
OMIM:164750 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Anal atresia, Atrial septal defect, Velopharyngeal insufficiency, Muscular ventricular septal def... |
ORPHA:363444 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, Spasticity, Spasti... |
OMIM:270500 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Nonimmune hydrops fetalis,... |
OMIM:618052 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... |
ORPHA:216873 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Camptodactyly, Ventral hernia, Omphalocele, Absent uvula |
OMIM:618529 |
| Constricting Bands, Congenital |
|
Cleft palate, Bladder exstrophy, Abnormal lung lobation, Ectopia cordis, Omphalocele, Gastroschisis |
OMIM:217100 |
| Gastroschisis |
|
Intestinal atresia, Gastroschisis |
ORPHA:2368 |
| Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... |
OMIM:604326 |
| Sialidosis Type 2 |
|
Inguinal hernia, Flexion contracture, Hydrops fetalis, Pedal edema, Umbilical hernia, Ascites |
ORPHA:87876 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Isomerism, Transposition ... |
OMIM:314390 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Flexion contracture, Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Pu... |
OMIM:616897 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
| Colonic Atresia |
|
Abdominal situs inversus, Peptic ulcer, Colonic atresia, Omphalocele, Duodenal stenosis, Gastrosc... |
ORPHA:1198 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Anal atresia, Atrial septal defect, Coarctation of aorta, Ventricular septal d... |
OMIM:264480 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrops fetalis, Preeclampsia, Polyhydramnios, Pericarditis, Oligohydramnios |
ORPHA:163596 |
| Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
| Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia |
OMIM:610245 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... |
ORPHA:251282 |
| Acalvaria |
|
Omphalocele, Cleft palate, Abnormal lung lobation |
ORPHA:945 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis |
OMIM:300991 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... |
OMIM:617284 |
| Diets-Jongmans Syndrome |
|
Duodenal atresia, Congenital diaphragmatic hernia, Inguinal hernia, Heterotaxy, Ventricular septa... |
OMIM:618846 |
| Trisomy 13 |
|
Atrial septal defect, High, narrow palate, Cleft palate, Hydrops fetalis, Abnormal lung lobation,... |
ORPHA:3378 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate, Omphalocele |
OMIM:258320 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Pedal edema, ... |
ORPHA:439 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spastici... |
ORPHA:521406 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Pulmonary hypoplasia, Omphalocele |
OMIM:617895 |
| Diffuse Neonatal Hemangiomatosis |
|
Hydrops fetalis, Polyhydramnios, Patent ductus arteriosus, Ascites, Premature birth |
ORPHA:2123 |
| Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia, Aortic root aneurysm, Omph... |
OMIM:145420 |
| Marden-Walker Syndrome |
|
High palate, High, narrow palate, Cleft palate, Inguinal hernia, Joint contracture of the hand, C... |
OMIM:248700 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Neoplasm of the heart, Intestinal malrotation, Abnormality of the gastrointestinal tract, Polyhyd... |
ORPHA:2241 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, High palate, Atrial septal defect, Pulmonic stenosis, Tetralogy of... |
ORPHA:3304 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Cleft palate, Dextrocardia, Pulmonary hypoplasia, Pneumothorax, Ab... |
ORPHA:2257 |
| Mucopolysaccharidosis Type 7 |
|
Arteriovenous malformation, Inguinal hernia, Hydrops fetalis, Abnormal pleura morphology, Lymphed... |
ORPHA:584 |
| Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
| Gm1 Gangliosidosis |
|
Gastroesophageal reflux, Cherry red spot of the macula, Macroglossia, Aspiration pneumonia, Ingui... |
ORPHA:354 |
| Dysplastic Cortical Hyperostosis |
|
Polyhydramnios, Aplasia/Hypoplasia of the lungs, Hydrops fetalis |
ORPHA:2204 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations |
OMIM:615048 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
| Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Pulmonary sequestration, Atrial septal defect, Congenital... |
ORPHA:2847 |
| Maternal Phenylketonuria |
|
Double outlet right ventricle, High palate, Hypoplastic left heart, Coarctation of aorta, Tetralo... |
ORPHA:2209 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism, Bradykinesia, Resting tremor |
OMIM:614251 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:2141 |
| Hydrocephalus With Associated Malformations |
|
Intestinal malrotation, Pulmonary hypoplasia, Omphalocele |
OMIM:236640 |
| Vacterl/Vater Association |
|
Abnormal cardiac septum morphology, Anal atresia, Congenital diaphragmatic hernia, Cleft palate, ... |
ORPHA:887 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria, Tremor, Cogwheel rigidity |
ORPHA:363710 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing |
OMIM:619561 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
| Mosaic Trisomy 9 |
|
High palate, Atrial septal defect, Cleft palate, Intestinal malrotation, Camptodactyly of finger,... |
ORPHA:99776 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... |
OMIM:301310 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... |
ORPHA:371428 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity |
OMIM:600363 |
| Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Umbilical hernia |
ORPHA:1918 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Rigidity, Dystonia |
OMIM:615010 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... |
ORPHA:3400 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
| Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia |
ORPHA:98763 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
| Miller-Dieker Syndrome |
|
Polyhydramnios, Omphalocele |
ORPHA:531 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect, Pulmonary hy... |
ORPHA:99125 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia |
OMIM:615297 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria |
OMIM:617917 |
| Gm1-Gangliosidosis, Type I |
|
Inguinal hernia, Cherry red spot of the macula, Hydrops fetalis, Dilated cardiomyopathy, Abnormal... |
OMIM:230500 |
| Nuchal Bleb, Familial |
|
Hydrops fetalis, Fetal cystic hygroma |
OMIM:257350 |
| Dystonia 12 |
|
Torticollis, Bradykinesia, Parkinsonism, Tremor, Dystonia |
OMIM:128235 |
| Triploidy |
|
Abnormal cardiac septum morphology, Macroglossia, Cleft palate, Intestinal malrotation, Polyhydra... |
ORPHA:3376 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hydrops fetalis, Endocardial fibroelastosis |
OMIM:276822 |
| Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis |
OMIM:608644 |
| Mosaic Trisomy 1 |
|
Congenital diaphragmatic hernia, Cleft palate, Camptodactyly of finger, Coarctation of aorta, Pul... |
ORPHA:1692 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture |
OMIM:122850 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Intestinal malrotation, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Omphalocele |
OMIM:601163 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
| Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... |
ORPHA:1354 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Minicore Myopathy With External Ophthalmoplegia |
|
High palate, Hydrops fetalis, Increased connective tissue, Polyhydramnios, Pulmonary hypoplasia, ... |
OMIM:255320 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis |
OMIM:620032 |
| Congenital Enterovirus Infection |
|
Hydrops fetalis, Premature birth, Myocarditis, Polyhydramnios, Cardiomyopathy, Pleural effusion, ... |
ORPHA:292 |
| Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor |
OMIM:210000 |
| Czeizel-Losonci Syndrome |
|
High palate, Thickened nuchal skin fold, Tracheoesophageal fistula, Aplasia of the left hemidiaph... |
ORPHA:2437 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia |
OMIM:261630 |
| Sotos Syndrome |
|
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Gastroesophageal reflux, M... |
OMIM:117550 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
| 3-Methylglutaconic Aciduria, Type Iv |
|
Subvalvular aortic stenosis, Inguinal hernia, Biventricular hypertrophy |
OMIM:250951 |
| Down Syndrome |
|
Double outlet right ventricle, Anal atresia, Atrial septal defect, Macroglossia, Atrioventricular... |
OMIM:190685 |
| Trigonocephaly 1 |
|
Meckel diverticulum, Omphalocele |
OMIM:190440 |
| Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Incoordination |
OMIM:213200 |
| Huntington Disease-Like 2 |
|
Action tremor, Bradykinesia, Rigidity, Chorea, Dystonia |
OMIM:606438 |
| Meacham Syndrome |
|
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... |
ORPHA:3097 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Ab... |
ORPHA:1166 |
| Carpenter Syndrome 1 |
|
High palate, Atrial septal defect, Joint contracture of the hand, Pulmonic stenosis, Tetralogy of... |
OMIM:201000 |
| Alg12-Cdg |
|
Gastroesophageal reflux, Abnormal adipose tissue morphology, Muscular ventricular septal defect, ... |
ORPHA:79324 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... |
ORPHA:477817 |
| Lymphatic Malformation 1 |
|
Predominantly lower limb lymphedema, Cellulitis, Nonimmune hydrops fetalis, Prominent superficial... |
OMIM:153100 |
| Miller-Dieker Lissencephaly Syndrome |
|
Abnormality of the abdominal wall, Duodenal atresia, Joint contracture of the hand, Cleft palate,... |
OMIM:247200 |
| Pseudodiastrophic Dysplasia |
|
Omphalocele |
ORPHA:85174 |
| Ciliary Dyskinesia, Primary, 23 |
|
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis |
OMIM:615451 |
| Spinocerebellar Ataxia 15 |
|
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor |
OMIM:606658 |
| Pagod Syndrome |
|
Hypoplastic left heart, Congenital diaphragmatic hernia, Situs inversus totalis, Pulmonary artery... |
ORPHA:991 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Dystonia |
ORPHA:324588 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... |
OMIM:300894 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Duodenal atresia, Muscular ventricular septal defect, Tracheoesophageal fistula, Esophageal atres... |
OMIM:619227 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal atresia, Intestinal malrotation, Ventricular septal defect, Polyhydramnios, Rectal abs... |
ORPHA:436252 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... |
ORPHA:363654 |
| Parkinson-Dementia Syndrome |
|
Tremor, Rigidity, Abnormal pyramidal sign, Parkinsonism |
OMIM:260540 |
| Axial Mesodermal Dysplasia Spectrum |
|
Anal atresia, Gastroesophageal reflux, Congenital diaphragmatic hernia, Morphological abnormality... |
ORPHA:1834 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor |
OMIM:609153 |
| Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
| Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
| Opitz Gbbb Syndrome |
|
High palate, Anal atresia, Ectopic anus, Atrial septal defect, Congenital diaphragmatic hernia, C... |
ORPHA:2745 |
| Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... |
OMIM:164500 |
| Dystonia 16 |
|
Bradykinesia, Laryngeal dystonia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Involuntary... |
OMIM:612067 |
| Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
| Schisis Association |
|
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Tracheoesophageal fistula, Omphaloce... |
ORPHA:63862 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Gastroesophageal reflux, Cleft palate, Congenital diaphragmatic hernia, Abn... |
ORPHA:261197 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
| Chromosome 9P Deletion Syndrome |
|
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Inguinal hernia, Ventricul... |
OMIM:158170 |
| Hadziselimovic Syndrome |
|
High palate, Anal atresia, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, V... |
OMIM:612946 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Macroglossia, Umbilical hernia |
OMIM:275100 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Flexion contracture, Nonimmune hydrops fetalis, Polyhydramnios, Dilated cardiomyopathy, Esophagea... |
ORPHA:367 |
| Prune Belly Syndrome |
|
Anal atresia, Atrial septal defect, Intestinal atresia, Intestinal malrotation, Aplasia of the ab... |
ORPHA:2970 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Limb... |
ORPHA:71517 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia |
OMIM:618093 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Tremor |
OMIM:190310 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Cleft palate, Pulmonary artery hypoplasia, Anomalous origin of lef... |
ORPHA:2326 |
| Focal Dermal Hypoplasia |
|
Abnormality of the pulmonary vasculature, Abnormal cardiac septum morphology, Duodenal atresia, D... |
ORPHA:2092 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Nonimmune hydrops fetalis, Premature birth, Cardiomegaly |
OMIM:618838 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus |
OMIM:613608 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
| Aortic Arch Interruption |
|
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... |
ORPHA:2299 |
| Diabetic Embryopathy |
|
Cleft palate, Single umbilical artery, Aplasia/Hypoplasia of the abdominal wall musculature, Tetr... |
ORPHA:1926 |
| Feingold Syndrome Type 1 |
|
Tricuspid atresia, Anal atresia, Duodenal atresia, Tricuspid stenosis, Patent ductus arteriosus, ... |
ORPHA:391641 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Hamartoma of tongue, Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarcta... |
OMIM:217085 |
| Transketolase Deficiency |
|
Atrial septal defect, Abnormal coronary artery course, Ventricular septal defect, Patent ductus a... |
ORPHA:488618 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
| Distal Trisomy 15Q |
|
High palate, Anal atresia, Camptodactyly of finger, Omphalocele |
ORPHA:1707 |
| Mucopolysaccharidosis, Type Vii |
|
Macroglossia, Chronic bronchitis, Flexion contracture, Recurrent upper respiratory tract infectio... |
OMIM:253220 |
| Free Sialic Acid Storage Disease |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Ascites, Recurrent respira... |
ORPHA:834 |
| Johanson-Blizzard Syndrome |
|
Abnormal cardiac septum morphology, Malabsorption, Anal atresia, Dextrocardia, Anteriorly placed ... |
ORPHA:2315 |
| Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot |
ORPHA:1919 |
| Isolated Dandy-Walker Malformation |
|
Cleft palate, Tetralogy of Fallot |
ORPHA:217 |
| X-Linked Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:53351 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Flexion contracture, Cleft palate, Hydrops fetalis, Increased placental thickness, Pulmonary hypo... |
ORPHA:1865 |
| Fetal Gaucher Disease |
|
High palate, Flexion contracture, Intracranial hemorrhage, Hydrops fetalis, Arthrogryposis multip... |
ORPHA:85212 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Hernia of the abdominal wall, Anomalous pulmonary venous return, Patent ductus arteriosus, Tetral... |
ORPHA:2184 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia |
OMIM:617836 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Intestinal malrotation, Ventricular septal defect, Umbilical her... |
OMIM:222448 |
| Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... |
OMIM:614954 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Parox... |
OMIM:606703 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Choreoathetosis, Dystonia |
OMIM:261640 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Pulmonic stenosis, Oligohydramnios, Situs inversus totalis, Pulmonary hypo... |
OMIM:615415 |
| Short-Rib Thoracic Dysplasia 12 |
|
Inguinal hernia, Intestinal malrotation, Lobulated tongue, Ventricular septal defect, Hamartoma o... |
OMIM:269860 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Frequent falls, Tremor, Gait ataxia, Spasticity |
OMIM:616719 |
| Melnick-Needles Syndrome |
|
Abnormal cardiac septum morphology, Recurrent respiratory infections, Omphalocele |
ORPHA:2484 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect, Pyloric stenos... |
OMIM:614262 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent ductus arteriosus, Patent fora... |
OMIM:601005 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia |
OMIM:612716 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot |
ORPHA:251076 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait ataxia,... |
OMIM:617145 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Dextrocardia |
OMIM:613095 |
| Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Intention tremor, Babinski sign, Abnormal pyramidal si... |
ORPHA:397946 |
| Urocanic Aciduria |
|
Ataxia, Action tremor, Truncal ataxia, Gait ataxia |
ORPHA:210128 |
| Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
| Floating-Harbor Syndrome |
|
Atrial septal defect, Inguinal hernia, Coarctation of aorta, Umbilical hernia, Persistent left su... |
OMIM:136140 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, C... |
OMIM:606159 |
| Alg9-Cdg |
|
Atrial septal defect, Gastroesophageal reflux, Thickened nuchal skin fold, Hydrops fetalis, Bifid... |
ORPHA:79328 |
| Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Ataxia, Tremor |
ORPHA:1368 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
High palate, Dextrocardia, Coarctation of aorta, Atrioventricular canal defect |
OMIM:618929 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Omphalocele |
OMIM:614450 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity |
OMIM:619028 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Abnormal cardiac septum morphology, Anal atresia, Cleft palate, Intestinal malrotation, Abnormal ... |
ORPHA:2166 |
| Urocanase Deficiency |
|
Tremor, Ataxia |
OMIM:276880 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Pulmonic stenosis, Pulmonary artery atresia, Ventricular septal de... |
OMIM:301056 |
| Noonan Syndrome 12 |
|
Ventricular septal defect, Polyhydramnios, Anteriorly placed anus, Tetralogy of Fallot |
OMIM:618624 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
| Ciliary Dyskinesia, Primary, 27 |
|
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent respir... |
OMIM:615504 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Ciliary Dyskinesia, Primary, 28 |
|
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent respir... |
OMIM:615505 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Hypoplastic lef... |
OMIM:615524 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate, Hydrops fetalis, Polyhydramn... |
OMIM:616546 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Pulmonary lymphangiectasia, Chylous ascites, Palpebral edema, Nonimmun... |
OMIM:265300 |
| Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Anal atresia, Atrial septal defect, Polyhydramnios |
ORPHA:3469 |
| Parkinsonism With Polyneuropathy |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:619279 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Decreased fetal movement, Patent ductus arteriosus, Atrial septal ... |
OMIM:614886 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
