| 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 |
|
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Postural tremor, Kinetic tremor, Tongue tremor, Intention 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, Slurred speech, Ataxia |
OMIM:613227 |
| Optic Atrophy 2 |
|
Dysdiadochokinesis, Tremor, Babinski sign |
OMIM:311050 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... |
ORPHA:98769 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
| Episodic Ataxia, Type 1 |
|
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign |
OMIM:160120 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Situs inversus totalis, Abdominal situs inversus, Intestinal malrotation, Dextrocardia, Double ou... |
OMIM:605376 |
| Parkinsonism With Spasticity, X-Linked |
|
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity |
OMIM:300911 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia |
ORPHA:401840 |
| Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract infections, Bronch... |
OMIM:618254 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect |
OMIM:601127 |
| Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
| Mental Retardation, Autosomal Recessive 6 |
|
Involuntary movements, Tremor, Myoclonus |
OMIM:611092 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Aortopulm... |
OMIM:208530 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor |
OMIM:608687 |
| Cerebellar Ataxia And Albinism |
|
Head tremor, Ataxia |
OMIM:258300 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... |
OMIM:617205 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Transpos... |
OMIM:270100 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Right aortic arch with mirror image branching, Dextrocardia, Pulmo... |
OMIM:606217 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect |
OMIM:613751 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Myoclonus, Ataxia |
OMIM:616366 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Broad nasal tip, Oligohydramnios, Ventricular septal defect, Lymphedema, Pa... |
OMIM:601927 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| 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 |
|
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, ... |
ORPHA:3405 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Hydrops fetalis, Oligohydramnios, Ventricular septal defect, Premature birt... |
ORPHA:1909 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... |
OMIM:616749 |
| Ciliary Dyskinesia, Primary, 7 |
|
Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent pneumonia |
OMIM:611884 |
| Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Bronchiectasis, Absent outer dynein arms, Recurrent sinusitis, Atelectasi... |
OMIM:615067 |
| Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Dextrocardia, Sinusitis, Recurrent r... |
OMIM:615482 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... |
OMIM:617912 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Cleft palate, Right aortic arch, Transp... |
OMIM:231060 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries |
OMIM:614779 |
| Parkinson Disease 17 |
|
Tremor, Resting tremor, Bradykinesia, Parkinsonism, Rigidity |
OMIM:614203 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Dextrocardia, Situs inversus totalis |
ORPHA:66630 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Myoclonus, Ataxia |
OMIM:616187 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... |
OMIM:613854 |
| Lethal Congenital Contracture Syndrome 10 |
|
Hydrops fetalis, Narrow palate, Oligohydramnios, Ventricular septal defect, Fetal akinesia sequen... |
OMIM:617022 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis |
OMIM:618425 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hydrops fetalis, Ascites, Hypertrophic cardiomyopathy |
ORPHA:295 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Tremor, Parkinsonism, Rigidity, Bradykinesia |
OMIM:168100 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Involuntary movements, Chorea, Paroxysmal dyskinesia |
OMIM:611031 |
| Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Right aortic arch, Situs inversus totalis, Bronchiectasis |
OMIM:617577 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis |
OMIM:601322 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
ORPHA:85292 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Bronchiectasis, Absent outer dynein arms, Nasal polyposis, Recurrent resp... |
OMIM:616037 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Dextrocardia, Situs inversus totalis |
OMIM:618948 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Thickened nuchal skin fold, Abnormal heart morphology, Patent ductus arteriosus, Umbilical hernia... |
OMIM:618164 |
| Scimitar Syndrome |
|
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... |
ORPHA:185 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Chorea, Tremor, Hemiballismus |
ORPHA:494526 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Babinski sign, Ataxia, Spasticity |
OMIM:611105 |
| Spinocerebellar Ataxia 43 |
|
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity |
OMIM:617018 |
| Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Bronchiectasis, Absent inner and outer dynein arms, Dextrocardia, Chronic... |
OMIM:618063 |
| Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia, Chronic sinusitis, Abnormal respiratory mot... |
OMIM:614679 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Atrial septal defect, Single ventricle, Ventricular septal defect, Mitra... |
OMIM:306955 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... |
OMIM:614561 |
| Mental Retardation, Autosomal Dominant 55, With Seizures |
|
Tremor, Gait ataxia |
OMIM:617831 |
| Partial Atrioventricular Septal Defect |
|
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... |
ORPHA:1330 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Camptodactyly, Umbilical hernia, Dextrocardia, I... |
OMIM:616145 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Eyelid myoclonus, Ataxia |
OMIM:616421 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks |
ORPHA:308 |
| Double Outlet Right Ventricle |
|
Truncus arteriosus, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palat... |
ORPHA:3426 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... |
OMIM:260300 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Polyhydramnios, Diastasis recti, Ventricular septal defect, Abnormal heart morphology, Large plac... |
ORPHA:254534 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Cleft palate, Prominent nose |
OMIM:221950 |
| Segawa Syndrome, Autosomal Recessive |
|
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... |
OMIM:605407 |
| Dystonia 27 |
|
Postural tremor, Action tremor |
OMIM:616411 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... |
OMIM:611302 |
| Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Resting tremor, Bradykinesia |
OMIM:616710 |
| Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Absent inner and outer dynein arms, Dext... |
OMIM:606763 |
| Conotruncal Heart Malformations |
|
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... |
OMIM:217095 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... |
ORPHA:1209 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Transaldolase Deficiency |
|
Atrial septal defect, Hydrops fetalis, Biventricular hypertrophy, Edema, Coarctation of aorta |
ORPHA:101028 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Patent ductus arteriosus, Wide nasal bridge, Dextrocardia, Anal atresia,... |
ORPHA:2863 |
| Klippel-Trénaunay Syndrome |
|
Atrial septal defect, Hydrops fetalis, Cellulitis, Gastrointestinal hemorrhage, Abnormal tricuspi... |
ORPHA:90308 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Upp... |
ORPHA:101110 |
| Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Omphalocele, Ectopia cordis, Cleft palate, Pulmonary hypoplasia, Congen... |
OMIM:313850 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... |
OMIM:618845 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Gastroschisis, Ectopic anus, Hypoplastic left heart, Cleft palate |
ORPHA:2476 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect |
OMIM:601348 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Abnormal pyramidal sign, Ataxia |
OMIM:301840 |
| Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
| Chromosome 15Q25 Deletion Syndrome |
|
Dextrocardia, Inguinal hernia, Congenital diaphragmatic hernia, Cleft palate, Abnormal cardiac se... |
OMIM:614294 |
| Ritscher-Schinzel Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... |
OMIM:220210 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Spasticity |
OMIM:616494 |
| Primary Ciliary Dyskinesia |
|
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double outlet ri... |
ORPHA:244 |
| Dextrocardia |
|
Meckel diverticulum, Situs inversus totalis, Congenital malformation of the great arteries, Abnor... |
ORPHA:1666 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... |
OMIM:615779 |
| Donnai-Barrow Syndrome |
|
Short nose, Ventricular septal defect, Intestinal malrotation, Omphalocele, Umbilical hernia, Con... |
ORPHA:2143 |
| Achondrogenesis |
|
Polyhydramnios, Thickened nuchal skin fold, Hydrops fetalis, Short nose, Umbilical hernia, Inguin... |
ORPHA:932 |
| Hydrops Fetalis |
|
Polyhydramnios, Increased placental thickness, Abnormal heart morphology, Lymphedema, Pleural eff... |
ORPHA:1041 |
| Lymphatic Malformation 7 |
|
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Pulmonary edema, Non... |
OMIM:617300 |
| Mulibrey Nanism |
|
Enamel hypoplasia, Myocardial fibrosis, Hydrops fetalis, Hypoplastic frontal sinuses, Wide nasal ... |
OMIM:253250 |
| Gastrointestinal Defects And Immunodeficiency Syndrome |
|
Enamel hypoplasia, Polyhydramnios, Hematochezia, Ventricular septal defect, Intestinal malrotatio... |
OMIM:243150 |
| Lichtenstein-Knorr Syndrome |
|
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria |
OMIM:616291 |
| Omphalocele |
|
Premature birth, Omphalocele |
ORPHA:660 |
| Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Situs inversus totalis |
OMIM:615994 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia, Nonimmune hydrops fetalis, Anteverted nares |
OMIM:613124 |
| Kagami-Ogata Syndrome |
|
Polyhydramnios, Diastasis recti, Atrial septal defect, Ventricular septal defect, Flexion contrac... |
OMIM:608149 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity |
ORPHA:401901 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polyhydramnios, Thickened nuchal skin fold, Underdeveloped nasal alae, Abnormal heart morphology,... |
OMIM:263210 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Absent inner dynein arms, Abnormal a... |
OMIM:613807 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect |
OMIM:607941 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign |
OMIM:300660 |
| Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Abnormal tricuspid valve morphology, Intestinal malrotation, Dextrocardi... |
ORPHA:1759 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atres... |
OMIM:618316 |
| Cardiac Valvular Defect, Developmental |
|
Tricuspid atresia, Hydrops fetalis, Arteria lusoria, Inguinal hernia, Edema, Mitral stenosis, Tri... |
OMIM:212093 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hydrops fetalis, Fetal akinesia sequence, Flexion contracture, Dilated cardiomyopathy, Hypertroph... |
OMIM:618815 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Flexion contracture, Nonimmune hydrops fetalis, Cardiomyopathy, Abnormality of the amniotic fluid |
OMIM:608540 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Wide nasal bridge, Ventricular septal defect |
ORPHA:93267 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... |
ORPHA:216694 |
| Teebi Hypertelorism Syndrome |
|
Atrial septal defect, Short nose, Ventricular septal defect, Omphalocele, Wide nasal bridge, Depr... |
OMIM:145420 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Unilateral vertebral artery hypoplasia, Dextrocardia, Situs inversus totalis |
OMIM:613686 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect |
OMIM:615297 |
| Trisomy 1Q |
|
Polyhydramnios, Camptodactyly of finger, Hydrops fetalis, Ventricular septal defect, Patent ductu... |
ORPHA:261344 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Action tremor, Ataxia, Intention tremor |
OMIM:302500 |
| Infantile Sialic Acid Storage Disease |
|
Hydrops fetalis, Premature birth, Cardiomegaly, Ascites, High palate, Anteverted nares |
OMIM:269920 |
| Neuraminidase Deficiency |
|
Hydrops fetalis, Facial edema, Inguinal hernia, Cardiomegaly, Ascites, Cherry red spot of the mac... |
OMIM:256550 |
| Glycogen Storage Disease Iv |
|
Polyhydramnios, Arthrogryposis multiplex congenita, Hydrops fetalis, Esophageal varix, Decreased ... |
OMIM:232500 |
| Sandestig-Stefanova Syndrome |
|
Camptodactyly, Wide nasal bridge, Decreased fetal movement, Perimembranous ventricular septal def... |
OMIM:618804 |
| Spinal Muscular Atrophy, Type I |
|
Decreased fetal movement, Atrial septal defect, Recurrent respiratory infections, Ventricular sep... |
OMIM:253300 |
| Boomerang Dysplasia |
|
Polyhydramnios, Hydrops fetalis, Omphalocele, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia... |
ORPHA:1263 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor |
ORPHA:401835 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Absent uvula, Short nose, Camptodactyly, Omphalocele, Wide nasal bridge, Bicuspid aortic valve, B... |
OMIM:618529 |
| Achondrogenesis Type 1B |
|
Polyhydramnios, Thickened nuchal skin fold, Hydrops fetalis, Short nose, Umbilical hernia, Aplasi... |
ORPHA:93298 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Spasticity |
OMIM:615528 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Tremor, Truncal ataxia, Dysmetria |
OMIM:616127 |
| Recombinant Chromosome 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly, Patent ductus arteriosus, Pulmoni... |
OMIM:179613 |
| Esophageal Atresia |
|
Polyhydramnios, Morphological abnormality of the gastrointestinal tract, Laryngotracheomalacia, C... |
ORPHA:1199 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Parkinsonism, Rigidity, Bradykinesia |
OMIM:600116 |
| Congenital Pulmonary Lymphangiectasia |
|
Hydrops fetalis, Pleural effusion, Gastroesophageal reflux, Pulmonic stenosis, Ascites, Chyloperi... |
ORPHA:2414 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea |
OMIM:616939 |
| Achondrogenesis Type 1A |
|
Polyhydramnios, Thickened nuchal skin fold, Hydrops fetalis, Short nose, Umbilical hernia, Aplasi... |
ORPHA:93299 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hydrops fetalis, Hypertrophic cardiomyopathy |
OMIM:613673 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Abnormal heart morphology, Camptodactyly, Patent ductus arteriosus, Perimem... |
ORPHA:363444 |
| Fryns Syndrome |
|
Polyhydramnios, Thickened nuchal skin fold, Abnormal aortic arch morphology, Abnormal aortic morp... |
ORPHA:2059 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft lip and palate, Omphalocele, Ventricular septal defect |
OMIM:601357 |
| Sonoda Syndrome |
|
Depressed nasal bridge, Ventricular septal defect |
OMIM:270460 |
| Parkinson Disease 21 |
|
Tremor, Parkinsonism, Rigidity, Bradykinesia |
OMIM:616361 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Fetal Minoxidil Syndrome |
|
Depressed nasal bridge, Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
| Miller-Dieker Syndrome |
|
Polyhydramnios, Short nose, Anteverted nares, Omphalocele |
ORPHA:531 |
| Pentalogy Of Cantrell |
|
Atrial septal defect, Ventricular septal defect, Omphalocele, Abnormal pericardium morphology, Cl... |
ORPHA:1335 |
| Floating-Harbor Syndrome |
|
Atrial septal defect, Umbilical hernia, Inguinal hernia, Mesocardia, Coarctation of aorta, Persis... |
OMIM:136140 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Poor fine motor coordination, Abnormal pyramidal sign, Ataxia, B... |
ORPHA:98762 |
| Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria |
OMIM:607458 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Tremor, Ataxia |
OMIM:617917 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Tremor, Gait ataxia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, Spasticity |
OMIM:607317 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Generalized edema |
OMIM:618773 |
| Spinocerebellar Ataxia Type 35 |
|
Pseudobulbar paralysis, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Torticollis, Dys... |
ORPHA:276193 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Babinski sign, Spasticity |
OMIM:615768 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity |
OMIM:614307 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign |
OMIM:615362 |
| Coronary Artery Dissection, Spontaneous |
|
Coronary artery dissection |
OMIM:122455 |
| Achondrogenesis, Type Ib |
|
Polyhydramnios, Hydrops fetalis, Umbilical hernia, Inguinal hernia, Edema, Breech presentation |
OMIM:600972 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Action tremor, Intention tremor, Frequent falls, Spastic dysarthria, ... |
ORPHA:314978 |
| Lymphatic Malformation 6 |
|
Polyhydramnios, Atrial septal defect, Cellulitis, Prune belly, Pleural effusion, Lymphedema, Gast... |
OMIM:616843 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... |
ORPHA:79262 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... |
OMIM:606324 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations |
OMIM:613728 |
| Renal Tubular Dysgenesis |
|
Polyhydramnios, Oligohydramnios, Pulmonary hypoplasia, Premature birth, Tetralogy of Fallot |
ORPHA:3033 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Esophageal atresia, Wide nasal bridge, Doub... |
ORPHA:2209 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary hypoplasia, Nonimmune hydrops fetalis, Cardiomyopathy |
OMIM:619003 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Short nose, Ventricular septal defect, Pleural effusion, Flexion... |
OMIM:616897 |
| Gastroschisis |
|
Gastroschisis, Abdominal wall defect |
OMIM:230750 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Hydrops fetalis, Cardiomegaly |
OMIM:618052 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Isomerism, Atrioventricular canal defect, Tracheoesophageal fistula, Transposition ... |
OMIM:314390 |
| Dystonia, Dopa-Responsive |
|
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Parkinsonism... |
OMIM:128230 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Sp... |
OMIM:270500 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Hemiparesis, Ataxia |
OMIM:141500 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
| Autosomal Dominant Cutis Laxa |
|
Abnormal heart valve morphology, Emphysema, Umbilical hernia, Pulmonic stenosis, Inguinal hernia,... |
ORPHA:90348 |
| Dystonia 16 |
|
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Parkinsonism |
ORPHA:210571 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Parkinsonism, Resting tremor, Bradykinesia, Rigidity |
OMIM:614251 |
| Omphalocele, Autosomal |
|
Inguinal hernia, Omphalocele |
OMIM:164750 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Double outl... |
ORPHA:3304 |
| Constricting Bands, Congenital |
|
Omphalocele, Ectopia cordis, Gastroschisis, Bladder exstrophy, Cleft palate, Abnormal lung lobation |
OMIM:217100 |
| Dystonia 11, Myoclonic |
|
Tremor, Myoclonus, Torticollis |
OMIM:159900 |
| Diets-Jongmans Syndrome |
|
Polyhydramnios, Broad nasal tip, Ventricular septal defect, Interrupted inferior vena cava with a... |
OMIM:618846 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Dextrocardia, Situs inversus totalis |
OMIM:613095 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Pulmonary hypoplasia, Depressed nasal bridge, Omphalocele, Ventricular septal defect |
OMIM:617895 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Action tremor, Torticollis, Stereotypy, Involuntary movements |
ORPHA:98807 |
| Spinocerebellar Ataxia 23 |
|
Tremor, Gait ataxia, Limb ataxia, Babinski sign, Dysmetria |
OMIM:610245 |
| Fetal Encasement Syndrome |
|
Bilateral trilobed lungs, Omphalocele, Decreased fetal movement, Protruding tongue, Congenital di... |
OMIM:613630 |
| Cardiac-Urogenital Syndrome |
|
Scimitar anomaly, Atrial septal defect, Ventricular septal defect, Dysplastic tricuspid valve, Pa... |
OMIM:618280 |
| Dystonia 24 |
|
Head tremor, Torticollis, Blepharospasm |
OMIM:615034 |
| Marden-Walker Syndrome |
|
Zollinger-Ellison syndrome, Camptodactyly, Congenital contracture, Dextrocardia, Inguinal hernia,... |
OMIM:248700 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Polyhydramnios, Misalignment of the pulmonary veins, Patent ductus arteriosus, Omphalocele, Intes... |
OMIM:265380 |
| Isolated Trigonocephaly |
|
Omphalocele, Wide nasal bridge |
ORPHA:3366 |
| Pseudotrisomy 13 Syndrome |
|
Median cleft lip and palate, Tricuspid atresia, Atrial septal defect, Ventricular septal defect, ... |
OMIM:264480 |
| Hb Bart'S Hydrops Fetalis |
|
Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios, Preeclampsia |
ORPHA:163596 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... |
OMIM:607346 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Truncus arteriosus, Bulbous nose, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic... |
OMIM:612474 |
| Colonic Atresia |
|
Colonic atresia, Abdominal situs inversus, Omphalocele, Gastroschisis, Peptic ulcer, Duodenal ste... |
ORPHA:1198 |
| Vacterl/Vater Association |
|
Polyhydramnios, Omphalocele, Laryngomalacia, Cleft palate, Single umbilical artery, Aplasia/Hypop... |
ORPHA:887 |
| Sialidosis Type 2 |
|
Hydrops fetalis, Flexion contracture, Pedal edema, Umbilical hernia, Inguinal hernia, Ascites |
ORPHA:87876 |
| Trisomy 13 |
|
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Patent ductus arteriosus, Herni... |
ORPHA:3378 |
| Aortic Valve Disease 1 |
|
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... |
OMIM:109730 |
| Gastroschisis |
|
Gastroschisis, Intestinal atresia |
ORPHA:2368 |
| Monomelic Amyotrophy |
|
Fasciculations, Tremor |
ORPHA:65684 |
| Acalvaria |
|
Cleft palate, Omphalocele, Abnormal lung lobation |
ORPHA:945 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent sinusitis, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis |
OMIM:300991 |
| Gm1 Gangliosidosis |
|
Camptodactyly of finger, Macroglossia, Hydrops fetalis, Ventricular septal defect, Abnormal heart... |
ORPHA:354 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Omphalocele, Cleft palate |
OMIM:258320 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Tremor, Apraxia, Ataxia, Spasticity |
OMIM:615889 |
| Diffuse Neonatal Hemangiomatosis |
|
Polyhydramnios, Hydrops fetalis, Patent ductus arteriosus, Premature birth, Ascites |
ORPHA:2123 |
| Donnai-Barrow Syndrome |
|
Broad nasal tip, Short nose, Ventricular septal defect, Intestinal malrotation, Omphalocele, Umbi... |
OMIM:222448 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysdiadochokinesis, Intention tremor, Babinski sign, Dysmetria, Clonus, Nonprogressive cerebellar... |
OMIM:301310 |
| Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Omphalocele, Choanal a... |
OMIM:158170 |
| Dysplastic Cortical Hyperostosis |
|
Polyhydramnios, Aplasia/Hypoplasia of the lungs, Hydrops fetalis |
ORPHA:2204 |
| Mosaic Trisomy 9 |
|
Polyhydramnios, Camptodactyly of finger, Atrial septal defect, Hydrops fetalis, Bulbous nose, Oli... |
ORPHA:99776 |
| Fetal Valproate Spectrum Disorder |
|
Short nose, Omphalocele |
ORPHA:1906 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot, Abnormal nasal morphology |
ORPHA:3303 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Myoclonus |
ORPHA:363710 |
| Mucopolysaccharidosis Type 7 |
|
Hydrops fetalis, Lymphedema, Abnormal pleura morphology, Umbilical hernia, Inguinal hernia, Ascit... |
ORPHA:584 |
| Spinal Muscular Atrophy, Jokela Type |
|
Fasciculations, Tremor |
OMIM:615048 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Babinski sign, Clonus |
OMIM:600363 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia, Pneumothorax, ... |
ORPHA:2257 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Choanal atresia, Esophageal atresia, Duodenal atresia, Muscular ventricular septal defect, Trache... |
OMIM:619227 |
| Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Intestinal malrotation, Omphalocele, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Antev... |
OMIM:601163 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyki... |
ORPHA:314632 |
| Spinocerebellar Ataxia 40 |
|
Dysdiadochokinesis, Spastic paraparesis, Dysmetria, Intention tremor |
OMIM:616053 |
| Hydrocephalus With Associated Malformations |
|
Pulmonary hypoplasia, Intestinal malrotation, Omphalocele |
OMIM:236640 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Rigidity |
ORPHA:98763 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia, Omphalocele, Congenital diaphragmatic hernia |
ORPHA:2141 |
| Pericardial And Diaphragmatic Defect |
|
Pulmonary sequestration, Partial diaphragmatic absence of pericardium, Meckel diverticulum, Atria... |
ORPHA:2847 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cardiac total anomalous pulmonary venous connection, Single ventricle, Low 1-minute APGAR score, ... |
ORPHA:99125 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Polyhydramnios, Abnormality of the gastrointestinal tract, Intestinal malrotation, Omphalocele, U... |
ORPHA:2241 |
| Mosaic Trisomy 1 |
|
Polyhydramnios, Camptodactyly of finger, Ventricular septal defect, Omphalocele, Wide nasal bridg... |
ORPHA:1692 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Nuchal Bleb, Familial |
|
Hydrops fetalis, Fetal cystic hygroma |
OMIM:257350 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrial septal defect, Ventricular septal defect, Omphalocele, Bicuspid aortic valve, Double outle... |
ORPHA:371428 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Macroglossia, Omphalocele, Umbilical hernia, Depressed nasal bridge |
OMIM:275100 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... |
ORPHA:3400 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Hydrops fetalis |
OMIM:276822 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa... |
ORPHA:251282 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... |
ORPHA:261243 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect |
OMIM:122850 |
| Ciliary Dyskinesia, Primary, 3 |
|
Recurrent sinusitis, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis |
OMIM:608644 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Dou... |
ORPHA:477817 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Spasticity |
OMIM:615924 |
| Triploidy |
|
Polyhydramnios, Macroglossia, Intestinal malrotation, Omphalocele, Cleft palate, Abnormal cardiac... |
ORPHA:3376 |
| Gm1-Gangliosidosis, Type I |
|
Hydrops fetalis, Abnormal heart valve morphology, Inguinal hernia, Dilated cardiomyopathy, Cherry... |
OMIM:230500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Apraxia, Bradykinesia, Action tremor, Parkinsonism, Babinski sign |
OMIM:300423 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... |
OMIM:614980 |
| Behr Syndrome |
|
Tremor, Ataxia, Dysmetria, Babinski sign, Progressive spasticity |
OMIM:210000 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... |
ORPHA:1354 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Hand tremor, Vocal tremor |
ORPHA:420485 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Stereotypy, Tremor, Ataxia |
OMIM:617862 |
| Miller-Dieker Lissencephaly Syndrome |
|
Polyhydramnios, Short nose, Abnormal heart morphology, Camptodactyly, Omphalocele, Wide nasal bri... |
OMIM:247200 |
| Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
| Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Head tremor, Action tremor, Progressive cerebellar ataxia, Parkinsonism, Dysm... |
OMIM:604326 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Wide nose, Ventricular septal defect |
ORPHA:251076 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Blepharospasm, Torticollis |
OMIM:224500 |
| Schisis Association |
|
Omphalocele, Anal atresia, Congenital diaphragmatic hernia, Premature birth, Cleft palate, Trache... |
ORPHA:63862 |
| Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Anal atresia, Abnormality of the... |
ORPHA:3469 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Hand tremor, Myoclonus |
ORPHA:86814 |
| Mucopolysaccharidosis, Type Vii |
|
Hydrops fetalis, Recurrent upper respiratory tract infections, Abnormal heart valve morphology, F... |
OMIM:253220 |
| Johanson-Blizzard Syndrome |
|
Short nose, Underdeveloped nasal alae, Dextrocardia, Anal atresia, Edema, Abnormal cardiac septum... |
ORPHA:2315 |
| Congenital Enterovirus Infection |
|
Polyhydramnios, Hydrops fetalis, Pleural effusion, Pericardial effusion, Fetal distress, Fetal as... |
ORPHA:292 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor |
OMIM:606658 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Decreased fetal movement, Doub... |
OMIM:614886 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Parkinsonism, Resting tremor, Bradykinesia, Rigidity |
OMIM:605909 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralogy of Fallot, Long nose, Hern... |
ORPHA:2184 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Dysmetria, Spasticity |
OMIM:213200 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... |
ORPHA:363654 |
| Minicore Myopathy With External Ophthalmoplegia |
|
Polyhydramnios, Hydrops fetalis, Increased connective tissue, Decreased fetal movement, Pulmonary... |
OMIM:255320 |
| Distal Trisomy 15Q |
|
Camptodactyly of finger, Omphalocele, Anal atresia, High palate, Prominent nasal bridge |
ORPHA:1707 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Action tremor |
ORPHA:464440 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity |
OMIM:278780 |
| Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Abnormal heart morphology |
OMIM:618300 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
| Hadziselimovic Syndrome |
|
Prominent nasal bridge, Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect,... |
OMIM:612946 |
| Meacham Syndrome |
|
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Atrial septal... |
ORPHA:3097 |
| 3-Methylglutaconic Aciduria, Type Iv |
|
Subvalvular aortic stenosis, Inguinal hernia, Biventricular hypertrophy |
OMIM:250951 |
| Czeizel-Losonci Syndrome |
|
Thickened nuchal skin fold, Posterolateral diaphragmatic hernia, Aplasia of the left hemidiaphrag... |
ORPHA:2437 |
| Carpenter Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly, Patent ductus arteriosus, Omphalo... |
OMIM:201000 |
| Encephalopathy, Recurrent, Of Childhood |
|
Incoordination, Truncal ataxia, Chorea, Babinski sign, Intention tremor, Athetosis, Choreoathetosis |
OMIM:130950 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Abnormal aortic morphology, Cleft palate, Congenital diaphragmatic her... |
ORPHA:1166 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity |
OMIM:260540 |
| Trigonocephaly 1 |
|
Meckel diverticulum, Omphalocele |
OMIM:190440 |
| Corticobasal Syndrome |
|
Limb apraxia, Oromotor apraxia, Tremor, Speech apraxia, Bradykinesia, Progressive extrapyramidal ... |
ORPHA:454887 |
| Hypermanganesemia With Dystonia 2 |
|
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Spasticity |
OMIM:617013 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Bronchodysplasia, Wide nasal brid... |
OMIM:265300 |
| Parkinson Disease 14, Autosomal Recessive |
|
Tremor, Apraxia, Clumsiness, Bradykinesia, Parkinsonism, Rigidity, Spasticity |
OMIM:612953 |
| Pagod Syndrome |
|
Situs inversus totalis, Abnormal aortic morphology, Pulmonary artery hypoplasia, Omphalocele, Pul... |
ORPHA:991 |
| Pseudodiastrophic Dysplasia |
|
Omphalocele |
ORPHA:85174 |
| Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... |
OMIM:613759 |
| Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Laryngeal calcification, Hydrops fetalis, Premature birth |
OMIM:215045 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Myoclonus, Ataxia |
OMIM:614018 |
| Ciliary Dyskinesia, Primary, 23 |
|
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Chronic bronchitis |
OMIM:615451 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... |
ORPHA:240103 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Polyhydramnios, Gastrointestinal atresia, Ventricular septal defect, Intestinal malrotation, Omph... |
ORPHA:436252 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia |
OMIM:612016 |
| Parkinsonism-Dystonia, Infantile, 1 |
|
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... |
OMIM:613135 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... |
OMIM:164500 |
| Ciliary Dyskinesia, Primary, 13 |
|
Recurrent bronchitis, Situs inversus totalis, Bronchiectasis, Absent inner dynein arms, Absent ou... |
OMIM:613193 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Tremor, Choreoathetosis, Myoclonus |
OMIM:261630 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:614432 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis, Ventricular septal defect, Tracheomalacia, Congenital diaphragmatic hernia, Coar... |
ORPHA:268249 |
| Microphthalmia, Syndromic 12 |
|
Broad nasal tip, Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary... |
OMIM:615524 |
| Axial Mesodermal Dysplasia Spectrum |
|
Morphological abnormality of the gastrointestinal tract, Oligohydramnios, Gastroesophageal reflux... |
ORPHA:1834 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... |
ORPHA:3384 |
| Opitz Gbbb Syndrome |
|
Patent ductus arteriosus, Omphalocele, Congenital diaphragmatic hernia, Aortic root aneurysm, Pat... |
ORPHA:2745 |
| Distal Trisomy 5Q |
|
Short nose, Ventricular septal defect, Dextrocardia, Hernia, Prominent nasal bridge |
ORPHA:96097 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Abnormal heart morphology, Gastroesophageal reflux, Abnormal aortic valve m... |
ORPHA:261197 |
| Primary Intestinal Lymphangiectasia |
|
Hydrops fetalis, Lymphedema, Pleural effusion, Pericardial effusion, Pedal edema, Ileus, Chylous ... |
ORPHA:90362 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hydrops fetalis, Increased placental thickness, Abnormal heart morphology, Flexion contracture, W... |
ORPHA:1865 |
| C Syndrome |
|
Short nose, Ventricular septal defect, Patent ductus arteriosus, Omphalocele, Wide nasal bridge, ... |
OMIM:211750 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Coarctation of aorta, Atrioventricular canal defect, High palate, Depressed nasal b... |
OMIM:618929 |
| Transketolase Deficiency |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Patent ductus arterio... |
ORPHA:488618 |
| Ciliary Dyskinesia, Primary, 28 |
|
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Recurrent respiratory infections, Si... |
OMIM:615505 |
| Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614429 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Tremor |
OMIM:190310 |
| Codas Syndrome |
|
Enamel hypoplasia, Polyhydramnios, Atrial septal defect, Ventricular septal defect, Gastroesophag... |
OMIM:600373 |
| Feingold Syndrome Type 1 |
|
Tricuspid atresia, Gastrointestinal atresia, Interrupted aortic arch, Abnormal heart morphology, ... |
ORPHA:391641 |
| Phenobarbital Embryopathy |
|
Tetralogy of Fallot, Abnormal mitral valve morphology |
ORPHA:1919 |
| Fibrochondrogenesis 1 |
|
Hydrops fetalis, Short nose, Camptodactyly, Omphalocele, Joint contracture of the hand, Cleft pal... |
OMIM:228520 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Pulmonary... |
ORPHA:2326 |
| Prune Belly Syndrome |
|
Atrial septal defect, Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Intes... |
ORPHA:2970 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Short nose, Ventricular septal defect, High palate, Tetralogy of Fallot, Tr... |
ORPHA:1913 |
| Ciliary Dyskinesia, Primary, 9 |
|
Recurrent sinusitis, Situs inversus totalis, Pneumonia, Bronchiectasis |
OMIM:612444 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Truncus arteriosus, Oligohydramnios, Pulmonic stenosis, Aortic valve sten... |
OMIM:615415 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Nonimmune hydrops fetalis, Premature birth, Cardiomegaly |
OMIM:618838 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Abnormal dental enamel morphology, Diastasis recti, Ventricular septal d... |
ORPHA:2092 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Camptodactyl... |
OMIM:614262 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Short nose, Ventricular septal defect, Camptodactyly, Patent ductus arte... |
OMIM:616894 |
| Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Gait ataxia, Ataxia, Frequent falls, Spasticity |
OMIM:616719 |
| Lymphatic Malformation 1 |
|
Cellulitis, Hyperkeratosis over edematous areas, Hypoplasia of lymphatic vessels, Predominantly l... |
OMIM:153100 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Atrial septal defect, Hydrops fetalis, Pulmonary hypoplasia, Congenital diaphragm... |
OMIM:616546 |
| Timothy Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pneumonia, Bronchitis, Cardiomegaly, Patent ... |
OMIM:601005 |
| Osteopathia Striata With Cranial Sclerosis |
|
Polyhydramnios, Atrial septal defect, Oligohydramnios, Ventricular septal defect, Anal stenosis, ... |
OMIM:300373 |
| Urocanic Aciduria |
|
Gait ataxia, Truncal ataxia, Ataxia, Action tremor |
ORPHA:210128 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Spasticity |
ORPHA:521406 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Clumsiness, Chorea, Abnormal pyramidal sign, Parkinsonism, Upper motor neuron dysfunction... |
ORPHA:216873 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
| Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Chronic sinusitis, Recurrent respiratory... |
OMIM:617092 |
| Urocanase Deficiency |
|
Tremor, Ataxia |
OMIM:276880 |
| Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
|
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Inguinal hernia, Patent forame... |
OMIM:601450 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
| 1Q21.1 Microduplication Syndrome |
|
Tetralogy of Fallot, Arthrogryposis multiplex congenita, Gastroesophageal reflux |
ORPHA:250994 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Tremor, Ataxia, Lower limb spasticity, Myoclonus, Dysmetria |
OMIM:619028 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Abnormal aortic morphology, Single umbilical artery, Cleft palate, Abn... |
ORPHA:1926 |
| Short-Rib Thoracic Dysplasia 12 |
|
Polyhydramnios, Median cleft lip and palate, Ventricular septal defect, Patent ductus arteriosus,... |
OMIM:269860 |
| Parkinsonism With Polyneuropathy |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:619279 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... |
OMIM:108900 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Abnormal heart morphology, High, narrow palate, Wide nasal bridge, Dextrocardia, Tetralogy of Fal... |
ORPHA:96092 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal defect, Abnormal heart mor... |
OMIM:614954 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Hamartoma of tongue, Coarcta... |
OMIM:217085 |
| Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
| Melnick-Needles Syndrome |
|
Abnormal cardiac septum morphology, Recurrent respiratory infections, Omphalocele |
ORPHA:2484 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:249670 |
| Megabladder, Congenital |
|
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... |
OMIM:618719 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus |
OMIM:613608 |
| Methimazole Embryofetopathy |
|
Polyhydramnios, Ventricular septal defect, Abnormal aortic morphology, Choanal atresia, Esophagea... |
ORPHA:1923 |
| Autosomal Spastic Paraplegia Type 58 |
|
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Torticol... |
ORPHA:397946 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
High palate, Inguinal hernia, Wide nasal bridge, Ventricular septal defect |
OMIM:314320 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Tremor, Myoclonus |
OMIM:608105 |
| Floating-Harbor Syndrome |
|
Atrial septal defect, Broad nasal tip, Gastroesophageal reflux, Mesocardia, Coarctation of aorta,... |
ORPHA:2044 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Polyhydramnios, Fetal akinesia sequence, Flexion contracture, Esophageal varix, Ascites, Nonimmun... |
ORPHA:367 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Short nose, Ventricular septal defect, Abnormal heart m... |
ORPHA:401935 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Polyhydramnios, Intestinal malrotation, Omphalocele, Umbilical hernia, Anal atresia, Cleft palate... |
ORPHA:2166 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... |
OMIM:618780 |
| Myopathy With Extrapyramidal Signs |
|
Chorea, Tremor, Ataxia, Abnormality of extrapyramidal motor function |
OMIM:615673 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Polyhydramnios, Arthrogryposis multiplex congenita, Ventricular septal defect, Pulmonic stenosis,... |
OMIM:301056 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations |
OMIM:618170 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia, Parkinso... |
OMIM:300894 |
| Primary Dystonia, Dyt2 Type |
|
Involuntary movements, Tremor, Blepharospasm, Torticollis |
ORPHA:99657 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Cleft palate, Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect |
OMIM:601355 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Omphalocele |
OMIM:614450 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Choreoathetosis, Ataxia |
OMIM:612126 |
| German Syndrome |
|
Camptodactyly of finger, Arthrogryposis multiplex congenita, Lymphedema, Dysphagia, Wide nasal br... |
ORPHA:2077 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Rigidity |
OMIM:615010 |
| Isotretinoin-Like Syndrome |
|
Abnormality of the pulmonary veins, Thin anteverted nares, Abnormal aortic arch morphology, Gastr... |
ORPHA:2306 |
| Isolated Anencephaly |
|
Maternal diabetes, Maternal fever in pregnancy, Omphalocele, Congenital diaphragmatic hernia |
ORPHA:563609 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Parkinsonism, Resting tremor, Bradykinesia, Rigidity |
ORPHA:306692 |
| Huntington Disease-Like 2 |
|
Chorea, Rigidity, Bradykinesia, Action tremor |
OMIM:606438 |
| Transposition Of The Great Arteries, Dextro-Looped 1 |
|
Transposition of the great arteries |
OMIM:608808 |
| Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Hyper... |
OMIM:615382 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
High palate, Inguinal hernia, Wide nasal bridge, Ventricular septal defect |
ORPHA:3369 |
| Fetal Gaucher Disease |
|
Arthrogryposis multiplex congenita, Hydrops fetalis, Fetal akinesia sequence, Flexion contracture... |
ORPHA:85212 |
| Ciliary Dyskinesia, Primary, 10 |
|
Abnormal respiratory motile cilium morphology, Recurrent sinusitis, Situs inversus totalis, Chron... |
OMIM:612518 |
