Ureter, Cancer Of |
|
Neoplasm of the ureter |
OMIM:191600 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Spastic gait, Abnormal myelination, Hand tremor, Babinski sign, L... |
ORPHA:401840 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Leuko... |
OMIM:614561 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... |
ORPHA:957 |
8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia, Atrial septal defect, Abnormal heart morphology, Atrioventricula... |
DECIPHER:39 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... |
OMIM:143400 |
Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor |
OMIM:160120 |
Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia, Hypoplastic left atrium, Pulmonary hypoplasia, Ventricular septa... |
OMIM:615524 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Hypopl... |
ORPHA:2476 |
Gastric Cancer |
|
Stomach cancer, Increased level of L-fucose in urine |
OMIM:613659 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Generalized myoclonic seizure, Ataxia, Babinski sign, Dysmetria, Tremor, Atonic seizure |
OMIM:612437 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Seizure, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait |
OMIM:616921 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Congenital Primary Megaureter |
|
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,... |
ORPHA:617 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Progressive spastic paraplegia, Spastic gait, Abnormal myelination, Babinski sign, Difficulty wal... |
ORPHA:401820 |
Myoclonic-Atonic Epilepsy |
|
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Ataxia, Delayed CNS my... |
OMIM:616421 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... |
ORPHA:60033 |
Bronchopulmonary Dysplasia |
|
Hyperoxemia, Tracheobronchomalacia, Pulmonary sequestration, Abnormal respiratory system physiolo... |
ORPHA:70589 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Abnormal heart morphology, Emphysema |
OMIM:614100 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... |
ORPHA:79127 |
Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
Acalvaria |
|
Spina bifida, Hydrocephalus, Holoprosencephaly, Postaxial hand polydactyly, Cleft palate |
ORPHA:945 |
Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Abnormal heart valve morphology, Emphysema |
ORPHA:171719 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal thorax morphology, Upper limb phocomelia, Syndactyly, Cleft palate, Abnorma... |
ORPHA:294975 |
Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... |
OMIM:617805 |
Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Congenital diaphragmatic hernia, Omphalocele, Tetralogy of Fallot |
OMIM:613630 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Long philtrum, Joint contracture of the hand, Spina bifida, Dermatoglyphic ridges abnormal, Campt... |
OMIM:211960 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Camptodactyly of finger, Spina bifida occulta, Short neck, Abnormal rib morphology, ... |
ORPHA:2311 |
Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... |
OMIM:616053 |
Isolated Klippel-Feil Syndrome |
|
Webbed neck, Ventricular septal defect, Spina bifida, Abnormal sacrum morphology, Abnormal verteb... |
ORPHA:2345 |
Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
Vesicoureteral Reflux 3 |
|
Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicoureteral reflux, G... |
OMIM:613674 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Anterior encephalocele, Ventricular septal defect, Bilateral cleft lip, Foot oli... |
OMIM:601357 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Postural tremor, Torticollis, Myoclonus, Atonic seizure, Kinetic tremor, Involuntary movements |
OMIM:611092 |
Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
Congenital Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Aplasia/Hypoplasia of the diaphragm |
ORPHA:2140 |
Primary Hyperoxaluria Type 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... |
ORPHA:93599 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the philtrum, Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th... |
ORPHA:3268 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis, Anal atresia |
OMIM:274265 |
Epilepsy, Progressive Myoclonic 7 |
|
Myoclonic seizure, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Tremor |
OMIM:616187 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Hyperkinetic movements, Dyst... |
OMIM:618425 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Spondylolysis, Spondylolisthesis at L5-S1, Atlantoaxial dislocation, Tongue fasciculations, Atlan... |
OMIM:600561 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Long philtrum, Hip dysplasia, Preaxial foot polydacty... |
ORPHA:1988 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Bifid uvula, Hydronephrosis |
ORPHA:2669 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Myoclonic seizure, Seizure, Generalized myoclonic seizure, Ataxia, Bilateral tonic-c... |
OMIM:617831 |
Emphysema, Hereditary Pulmonary |
|
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema |
OMIM:130700 |
Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... |
OMIM:610921 |
Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
Fryns Microphthalmia Syndrome |
|
Bilateral cleft lip and palate, Facial cleft, Neural tube defect |
OMIM:600776 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Wrist flexion contracture, Polyhydramnios, Coat hanger sign of ribs, Thoracic hypoplasia, Promine... |
ORPHA:254528 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor |
OMIM:619491 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Nuchal Bleb, Familial |
|
Hydrops fetalis, Stillbirth, Fetal cystic hygroma |
OMIM:257350 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short thorax, Wide nasal bridge, Vertebral segmentation defect, Missing ribs, Post... |
ORPHA:1797 |
Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis |
OMIM:158580 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Hallux valgus, Toe syndactyly, Pectus excavatum, Scapular winging, Abnor... |
ORPHA:1327 |
Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Dislocated radial head, Cleft palate, T... |
ORPHA:2839 |
Triopia |
|
Polyhydramnios, Midline facial cleft, Encephalocele, Median cleft lip, Cleft palate |
ORPHA:3374 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Dyspnea, Cough, Gastric varix,... |
OMIM:613490 |
Tremor, Hereditary Essential, 6 |
|
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor |
OMIM:618866 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
Metatropic Dysplasia |
|
Respiratory insufficiency, Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Genu val... |
OMIM:156530 |
Basal Cell Nevus Syndrome 1 |
|
Polydactyly, Short 4th metacarpal, Wide nasal bridge, Cardiac rhabdomyoma, Short distal phalanx o... |
OMIM:109400 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Progressive spastic paraplegia, Abnormal myelination, Hand tremor, Lower limb spasticity |
ORPHA:401835 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Seizure, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Imp... |
OMIM:300423 |
Spinocerebellar Ataxia 37 |
|
Unsteady gait, Tremor, Frequent falls, Ataxia |
OMIM:615945 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
High palate, Kyphosis, Paucity of anterior horn motor neurons, Hip dysplasia, Short neck, Scolios... |
OMIM:611890 |
Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Myoclonic status epilepticus, Ataxia, Loss of ambulation, Tremor, Bilateral tonic-clon... |
OMIM:614018 |
Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
Ulnar Hemimelia |
|
Spinal dysraphism, Sclerotic forearm bones, Humeroradial synostosis, Aplasia of metacarpal bones,... |
ORPHA:93320 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Greenberg Dysplasia |
|
Short phalanx of finger, Polyhydramnios, Thoracic hypoplasia, Tetraphocomelia, Epiphyseal stippli... |
OMIM:215140 |
Anophthalmia Plus Syndrome |
|
Non-midline cleft lip, Facial cleft, Spina bifida, Deviation of finger, Cleft palate, Bilateral c... |
ORPHA:1104 |
Acrofacial Dysostosis, Catania Type |
|
Webbed neck, Finger syndactyly, Short stature, Small hand, Facial cleft, Clinodactyly of the 5th ... |
ORPHA:1786 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Polyhydramnios, Hydrops fetalis, Fetal pleural effusion, Fetal ascites, Fetal pericardial effusion |
OMIM:619462 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2487 |
Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia, Abnormal cardiac septum morphology |
ORPHA:99811 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Spasticity, Inability to walk, Abnormal myelination, Babinski sign, Spastic paraplegia |
ORPHA:431329 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Focal sensory seizure with visual features, Myoclonus, Bilateral tonic-clonic seizure, Tremor, Fo... |
OMIM:615400 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Polyhydramnios, Coat hanger sign of ribs, Thoracic hypoplasia, Large placenta, Umbilical hernia |
ORPHA:254534 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure, Tremor, Difficulty walking |
OMIM:613608 |
Dysmyelination With Jaundice |
|
Hydroureter, Hypoplasia of penis, Hydronephrosis |
OMIM:224250 |
Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor |
OMIM:617018 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Anal atresia, Hydronephrosis |
OMIM:235760 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Bilateral tonic-clonic seizure, Myoclonus, Tremor, Seizure |
OMIM:615127 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Hydrops fetalis, Advanced ossification of carpal bones, Short ribs, Fetal ascites... |
OMIM:215045 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Chorea, Absence seizure with eyelid myoclonia, Truncal ataxia, Myoclonus, Generalize... |
OMIM:618587 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Postural tremor |
ORPHA:85292 |
Poland Syndrome |
|
Unilateral oligodactyly, Short ribs, Unilateral hypoplasia of pectoralis major muscle, Unilateral... |
OMIM:173800 |
Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... |
OMIM:605407 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Stage 5 chronic kidney disease, Vesicoureteral reflux, Ureteropelvic junction obstruction |
OMIM:610805 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Hydrops fetalis, Hypoplastic ilia, Short ribs, Breech presentation, Edema, Stillb... |
OMIM:600972 |
Hypophosphatasia |
|
Respiratory insufficiency, Emphysema, Abnormal rib morphology, Abnormal metaphysis morphology, Bo... |
ORPHA:436 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Spina bifida, Toe syndactyly, Spina bifida occulta, Preaxial polydactyly |
ORPHA:64754 |
Dystonia 23 |
|
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Gait disturbance, Head tremor, Axial dystonia |
OMIM:614860 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Easily subluxated first metacarpophalangeal joints, Tapered finger, Pierre-Robin sequence, Clinod... |
OMIM:311895 |
Becker Nevus Syndrome |
|
Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Upper limb asymmetry, Abnormality of ... |
ORPHA:64755 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Congenital diaphragmatic hernia, Omphalocele, Abnormality of the diaphragm, Pulmonary hypoplasia |
OMIM:601163 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Vesicoureteral reflux, Gastroesophageal reflux, Neurogenic bladder, Recurrent urinary tract infec... |
OMIM:191800 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Asthma, Emphysema, Cough |
ORPHA:1164 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia |
ORPHA:2141 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Polyhydramnios, Micrognathia, Hip dislocation, Short neck, Rocker bottom... |
ORPHA:99776 |
Pericardial And Diaphragmatic Defect |
|
Pulmonary sequestration, Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence of... |
ORPHA:2847 |
Developmental And Epileptic Encephalopathy 58 |
|
Delayed myelination, Seizure, Spastic diplegia, Inability to walk, Status epilepticus |
OMIM:617830 |
Rudiger Syndrome |
|
Ureterovesical stenosis, Micropenis |
OMIM:268650 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia, Pulmonic stenosis, Pulmonary hypoplasia, Ventricular septal defect |
ORPHA:139466 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Progressive spastic paraplegia, Spastic dysarthria, Abnormal myelination, Hand tremor, Lower limb... |
ORPHA:401830 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Polyhydramnios, Wide nasal bridge, Micrognathia, Recurrent sinusitis, Pectus excavatum, Overlappi... |
OMIM:213980 |
Tremor, Hereditary Essential, 1 |
|
Hand tremor, Action tremor, Postural tremor |
OMIM:190300 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Short stature, Vertebral segmentation defect, Hypoplasia of the odontoid process, Contr... |
OMIM:609813 |
Indomethacin Embryofetopathy |
|
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Premature birt... |
ORPHA:1909 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Spinal rigidity, Scoliosis, Death in adolescence, Respiratory failure, Respiratory insufficiency ... |
OMIM:300717 |
Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Tongue fasciculations, Respiratory failure, Recurrent respiratory infe... |
OMIM:253300 |
Paroxysmal Kinesigenic Dyskinesia |
|
Chorea, Focal sensory seizure, Seizure, Writer's cramp, Involuntary movements, Athetosis, Dystonia |
ORPHA:98809 |
Developmental And Epileptic Encephalopathy 97 |
|
Epileptic spasm, Tremor, Seizure, Inability to walk |
OMIM:619561 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... |
OMIM:612387 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Ataxia, Babinski sign |
OMIM:611105 |
Diaphanospondylodysostosis |
|
Enlarged thorax, Short thorax, Myelomeningocele, Narrow pelvis bone, Missing ribs, Cleft palate |
ORPHA:66637 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Triphalangeal thumb, Patent ductus arteriosus, Atrioventricular canal defect, Preaxial hand polyd... |
ORPHA:1120 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia |
ORPHA:401901 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Horizontal ribs, Short ribs, Narrow chest, Postaxial foot polydactyly, Lateral clavicle hook, Ace... |
OMIM:617405 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Pulmonary hypoplasia, Hypertrophic cardiomyopathy... |
OMIM:614096 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Upper limb undergrowth, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:613124 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Death in infancy, Cerebral dysmyelination, Central apnea, Respiratory ... |
OMIM:611722 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Absent thumb, Radial club hand, Aqueductal stenosis, Hydrocephalus, An... |
OMIM:276950 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Anal atresia, Tracheoesophageal fistula, Cleft palate, ... |
ORPHA:63862 |
Orofaciodigital Syndrome Xviii |
|
Genu valgum, Short philtrum, Diastema, Accessory oral frenulum, Cervical ribs, Single transverse ... |
OMIM:617927 |
Developmental And Epileptic Encephalopathy 54 |
|
Delayed myelination, Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Ton... |
OMIM:617391 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Bell-shaped thorax, Vertebral fusion, Short thorax, Myelomeningocele, Short stature, Block verteb... |
OMIM:613686 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Seizure, Torticollis, Myoclonus, Ataxia, Babins... |
OMIM:607317 |
46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... |
OMIM:618901 |
Progressive Myoclonic Epilepsy Type 1 |
|
Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Intention tremor |
ORPHA:308 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... |
OMIM:601331 |
Developmental And Epileptic Encephalopathy 32 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Seizure, Myoclo... |
OMIM:616366 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... |
ORPHA:98807 |
Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip, Tessier number 4 facial cleft |
OMIM:600251 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Recurrent urinary ... |
ORPHA:2970 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Seizure, Clumsiness, Abnormality of extrapyramidal motor fun... |
ORPHA:79262 |
Migraine, Familial Hemiplegic, 1 |
|
Seizure, Hemiparesis, Hemiplegia, Ataxia, Tremor |
OMIM:141500 |
Spinocerebellar Ataxia Type 37 |
|
Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturbance, Tremor, Cogwheel rigidity... |
ORPHA:363710 |
Acropectoral Syndrome |
|
Triphalangeal thumb, Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly... |
OMIM:605967 |
Infantile Convulsions And Choreoathetosis |
|
Chorea, Seizure, Focal-onset seizure, Choreoathetosis, Complex febrile seizure, Paroxysmal dyskin... |
ORPHA:31709 |
Achondrogenesis, Type Ii |
|
Horizontal ribs, Polyhydramnios, Hypoplastic iliac wing, Hydrops fetalis, Long philtrum, Short tu... |
OMIM:200610 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Polyhydramnios, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the lungs, Hypoplasia of penis, O... |
ORPHA:1046 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait |
ORPHA:494526 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Enuresis, Urethral valve, Urethral obstruction, ... |
OMIM:236730 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Vesicoureteral Reflux, X-Linked |
|
Vesicoureteral reflux |
OMIM:314550 |
Vesicoureteral Reflux 1 |
|
Vesicoureteral reflux |
OMIM:193000 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis, Increased nuchal translucency |
ORPHA:295 |
Short Rib-Polydactyly Syndrome |
|
Horizontal ribs, Polyhydramnios, Absent or minimally ossified vertebral bodies, Short tibia, Poly... |
ORPHA:1505 |
Acrofacial Dysostosis, Weyers Type |
|
Conical tooth, Small hand, Facial cleft, Hypodontia, Advanced eruption of teeth, Clinodactyly of ... |
ORPHA:952 |
Acropectorovertebral Dysplasia |
|
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Abn... |
OMIM:102510 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal motor seizure, Paroxysmal dystonia, Writer's cramp, Myoclonus, Hand tremor, Bilateral tonic... |
OMIM:608105 |
Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor, Difficulty walking |
ORPHA:423296 |
Hinman Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone... |
ORPHA:84085 |
Congenital Myopathy 14 |
|
Hip contracture, High palate, Death in infancy, Apnea, Respiratory failure, Respiratory insuffici... |
OMIM:618414 |
Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor |
ORPHA:217012 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Developmental And Epileptic Encephalopathy 17 |
|
Chorea, Generalized tonic seizure, Delayed myelination, Athetosis, Dystonia |
OMIM:615473 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal irregularity, Osteoporotic tarsals, Sclerotic humeral metaphysis, Coxa valga, Metaphy... |
OMIM:609052 |
Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Abnormal pyramidal sign, Shuffling gait, Limb hypertonia, Parkinsonism, Rigidity, Sei... |
OMIM:615528 |
Urofacial Syndrome 2 |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Urinary urgency, Bladder trabeculation... |
OMIM:615112 |
Sprengel Deformity |
|
Cleft palate, Shoulder muscle hypoplasia, Abnormality of the shoulder girdle musculature, Abnorma... |
ORPHA:3181 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
Hyperekplexia 4 |
|
High palate, Camptodactyly, Adducted thumb, Kyphoscoliosis, Respiratory failure, Umbilical hernia |
OMIM:618011 |
Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory insufficiency, Camptodactyly of finger, High palate, Tongue fasciculations, Respirato... |
OMIM:614399 |
Multiple Synostoses Syndrome 3 |
|
Humeroradial synostosis, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hallux, Metac... |
OMIM:612961 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Cleft upper lip, Facial cleft, Broad proximal phalanges of the hand, Cle... |
OMIM:607597 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Polyhydramnios, Spinal dysraphism, Coxa valga, Thoracic hypoplasia, Epiphyseal stipp... |
ORPHA:96334 |
Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Leukodystrophy, Myoclonus, Ataxia, Tremor, CNS hypomyelination |
OMIM:616494 |
Mosaic Trisomy 16 |
|
Short forearm, Short femoral neck, Wide mouth, Abnormal thorax morphology, Clinodactyly, Maternal... |
ORPHA:1708 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... |
OMIM:618167 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Long proximal phalanx of finger, Genu valgum, Spinal dysraphism, Metaphyseal irregularity, Delaye... |
OMIM:603546 |
Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia |
OMIM:600116 |
Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Polyhydramnios, Wide nose, Short stature, Narrow chest, Vertebral segmentation defect... |
ORPHA:1394 |
Renal Hypoplasia |
|
Vesicoureteral reflux, Hydronephrosis, Abnormal renal cortex morphology, Renal insufficiency, Rec... |
ORPHA:93101 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Seizure, Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonu... |
OMIM:615362 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Abnormal CNS myelination,... |
ORPHA:477673 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Flared iliac wing, Pulmonary hypoplasia, Short hallux, Abnormal rib morp... |
ORPHA:90652 |
Atelosteogenesis, Type Ii |
|
Respiratory insufficiency, Pulmonary hypoplasia, Short neck, Cleft palate, Lumbar hyperlordosis, ... |
OMIM:256050 |
Benign Adult Familial Myoclonic Epilepsy |
|
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor |
ORPHA:86814 |
Developmental And Epileptic Encephalopathy 42 |
|
Myoclonic seizure, Focal tonic seizure, Ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Tr... |
OMIM:617106 |
Aicardi Syndrome |
|
Bifid ribs, Block vertebrae, Spina bifida, Supernumerary ribs, Missing ribs, Prominence of the pr... |
OMIM:304050 |
Infantile Sialic Acid Storage Disease |
|
Metaphyseal irregularity, Hydrops fetalis, High palate, Hydrocephalus, Cardiomegaly, Ascites, Gin... |
OMIM:269920 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Camptodactyly, Cleft palate, Widely patent coronal suture, Short palm,... |
OMIM:228520 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration, CNS demyelination |
OMIM:618328 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral bodies, Microgna... |
OMIM:265000 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Aplasia/Hypoplasia of... |
ORPHA:2990 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
2-3 toe syndactyly, Cleft upper lip, Short 5th finger, Facial cleft, Narrow mouth, Abnormal heart... |
OMIM:239800 |
Corticobasal Syndrome |
|
Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, G... |
ORPHA:454887 |
Aplasia Cutis Congenita |
|
Toe syndactyly, Spinal dysraphism, Finger syndactyly |
ORPHA:1114 |
Arthrogryposis, Distal, Type 1C |
|
Camptodactyly of finger, Wrist flexion contracture, Hip contracture, High palate, Elbow flexion c... |
OMIM:619110 |
Exostoses, Multiple, Type Ii |
|
Genu valgum, Coxa vara, Short metacarpal, Scapular exostoses, Pelvic bone exostoses, Madelung-lik... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Genu valgum, Coxa vara, Short metacarpal, Scapular exostoses, Pelvic bone exostoses, Madelung-lik... |
OMIM:133700 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
Fountain Syndrome |
|
Short stature, Kyphosis, Spina bifida, Abnormal metacarpal morphology, Coarse metaphyseal trabecu... |
ORPHA:3219 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral fusion, Back pain, Short stature, Block vertebrae, Vertebral segmentation defect, Sever... |
OMIM:277300 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Desquamative interstiti... |
OMIM:265120 |
Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... |
ORPHA:98762 |
Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Seizure, Inability to walk, Focal-onset seizure, Oculogyric crisis, Generalized myoclonic seizure... |
ORPHA:330050 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Patent foramen ovale, Flexion contracture, Spinal... |
OMIM:616867 |
Achondrogenesis Type 1A |
|
Polyhydramnios, Hydrops fetalis, Long philtrum, Short foot, Multiple rib fractures, Short palm, T... |
ORPHA:93299 |
Achondrogenesis Type 1B |
|
Polyhydramnios, Hydrops fetalis, Long philtrum, Abnormal rib morphology, Short foot, Thickened nu... |
ORPHA:93298 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... |
ORPHA:314978 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, High palate, 2-3 finger syndactyly, Spina bifida, Hydrocephalus, Clubbing of to... |
ORPHA:2437 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Abnormal pyramidal sign, Seizure, Dysdiadochokinesis, Parkinsonism, Rigidity, Gait distur... |
OMIM:213600 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventri... |
ORPHA:1166 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory insufficiency, Thoracolumbar scoliosis, Hip contracture, Tapered finger, Hyperextensi... |
OMIM:313420 |
Lethal Osteosclerotic Bone Dysplasia |
|
Gingival fibromatosis, Respiratory distress, Median cleft lip and palate, Short neck, Dyspnea, Re... |
ORPHA:1832 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Missing r... |
ORPHA:2759 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Tremor, Gait disturbance, Resting tremor |
OMIM:616710 |
Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Respiratory failure, Exertional dyspnea, Late inspira... |
ORPHA:2302 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Seizure, Postural tremor, Resting tremor, Akinesia, Clumsiness, Parkinsonism, Rigidity, Freezing ... |
OMIM:619911 |
Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Abnormal pyramidal sign, Seizure, Myoclonus, Ataxia, Tetraparesis, Tremor, Dystonia |
OMIM:615924 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Facial cleft, Abnormality of the humerus, Median cleft lip, Adducted thu... |
ORPHA:1794 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Dystonia 16 |
|
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Unsteady gait... |
ORPHA:210571 |
Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Genu varum, Hydrops fetalis, Metaphyseal cupping, Abnormal carpal morphology, Sho... |
ORPHA:85166 |
Jeune Syndrome |
|
Abnormal sternum morphology, Short thorax, Cone-shaped epiphysis, Toe syndactyly, Narrow chest, A... |
ORPHA:474 |
Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations |
ORPHA:309169 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Tremor |
OMIM:601068 |
Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
Disorganization, Mouse, Homolog Of |
|
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate |
OMIM:223200 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Typical absence seizure, Seizure, Inability to walk, Eyelid myoclonus, Clumsiness... |
ORPHA:2590 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ... |
ORPHA:93323 |
Kagami-Ogata Syndrome |
|
Polyhydramnios, Coat hanger sign of ribs, Bell-shaped thorax, Coxa valga, Thoracic hypoplasia, Pu... |
ORPHA:254519 |
Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Tremor, Craniofa... |
OMIM:617284 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Fractured radius, Ventricular septal defect, Short ribs, Multipl... |
OMIM:616897 |
Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:255320 |
Axial Mesodermal Dysplasia Spectrum |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... |
ORPHA:1834 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Poor fine motor coordination, Febrile seizure (within the age range of 3 months to 6 years), Gene... |
ORPHA:36387 |
Jawad Syndrome |
|
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... |
OMIM:251255 |
Spinocerebellar Ataxia 23 |
|
Gait ataxia, CNS demyelination, Limb ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:610245 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
Developmental And Epileptic Encephalopathy 56 |
|
Myoclonic seizure, Seizure, Focal motor seizure, Poor coordination, Status epilepticus, Ataxia, A... |
OMIM:617665 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of car... |
OMIM:269250 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... |
ORPHA:314632 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Rigidity, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Tremor, Myocloni... |
OMIM:617836 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Knee flexion contracture, Distal arthrogryposis, Flexion contracture, Hip contracture, Elbow flex... |
OMIM:617468 |
Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... |
ORPHA:99657 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Inability to walk, Rigidity, Generalized myoclonic seizure, Gait disturbance, Tonic ... |
OMIM:618090 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Seizure, Spastic gait, Spastic dysarthria, Limb ataxia, Spastic paraplegia, Babin... |
ORPHA:251282 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Wide nasal bridge, Micrognathia, Pectus excavatum, Dislocated radial head, Short neck, Radial dev... |
OMIM:268310 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor, Unsteady gait |
OMIM:615768 |
Loeys-Dietz Syndrome 4 |
|
Protrusio acetabuli, Pneumothorax, High palate, Eosinophilic infiltration of the esophagus, Bifid... |
OMIM:614816 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect |
OMIM:122850 |
Lethal Congenital Contracture Syndrome 1 |
|
Pulmonary hypoplasia, Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Art... |
OMIM:253310 |
Atypical Juvenile Parkinsonism |
|
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Inability to walk, Akinesia, Resting tremor... |
ORPHA:391411 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Anal atresia, Hydronephrosis |
ORPHA:195 |
Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly, Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Wide nasal bridge, Micrognathia, Camptodactyly, Butterfly vertebrae, Short neck, Posterior rib ga... |
OMIM:611209 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Dysmetria, Loss of ambulation, Tremor, Unsteady gait |
OMIM:617917 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, An... |
ORPHA:2973 |
Dystonia, Dopa-Responsive |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... |
OMIM:128230 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Polyhydramnios, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral... |
OMIM:615633 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Microcolon, Megacystis, Neonatal death, Fetal megacystis, Hydronephrosis |
OMIM:619362 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Seizure, Spastic gait, Babinski sign, Spastic paraplegia, Tremor, Lower limb spasticity, Clonus |
OMIM:600363 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hydrops fetalis, Encephalocele, Hypoplastic pubic bone, Hypoplastic ilia, Short ribs, Short long ... |
ORPHA:1865 |
Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
Primary Pulmonary Hypoplasia |
|
Patellar hypoplasia, Pneumothorax, Pulmonary hypoplasia, Ureteral stenosis, Cleft palate, Recurre... |
ORPHA:2257 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Respiratory failure |
OMIM:208081 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... |
OMIM:619773 |
Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Radial deviation of finger, Smooth philtrum, Postaxial hand polydactyly,... |
OMIM:249000 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Knee flexion contracture, Unilateral wrist flexion contracture, Pulmonary hypoplasia, Arthrogrypo... |
OMIM:616531 |
Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:616291 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Death in childhood |
OMIM:616081 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
Developmental And Epileptic Encephalopathy 16 |
|
Delayed myelination, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Status... |
OMIM:615338 |
Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... |
OMIM:618773 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Hydrops fetalis, High palate, Short ribs, Short lingual frenulum, Microdontia, Short... |
OMIM:614091 |
Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia |
OMIM:300911 |
Bor Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junc... |
ORPHA:107 |
Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Spastic ataxia, Tip-toe gait, Abnormal pyrami... |
ORPHA:397946 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Spinocerebellar Ataxia Type 40 |
|
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Unsteady gait,... |
ORPHA:423275 |
Limb Body Wall Complex |
|
Thoracic hypoplasia, Abnormal thorax morphology, Spina bifida occulta, Broad hallux, Abnormal int... |
ORPHA:2369 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Intestinal atresia, Duodenal atresia,... |
ORPHA:3405 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Anal atresia, Sirenomelia, Cervical spina bifid... |
ORPHA:63260 |
Peutz-Jeghers Syndrome |
|
Stomach cancer, Enlarged polycystic ovaries, Abnormality of the gastrointestinal tract, Renal cel... |
ORPHA:2869 |
Campomelic Dysplasia |
|
Short phalanx of finger, Polyhydramnios, Spinal dysraphism, Thoracic hypoplasia, Hallux valgus, M... |
OMIM:114290 |
Fanconi Anemia, Complementation Group O |
|
Stage 5 chronic kidney disease, Anal atresia, Renal cyst, Neonatal death, Rectal atresia, Hydrone... |
OMIM:613390 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae, Disprop... |
OMIM:608681 |
Meckel Syndrome, Type 11 |
|
Polydactyly, Occipital encephalocele, Oligohydramnios |
OMIM:615397 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Cleft upper lip, Encephalocele, Patellar hypoplasia, Midline facial cle... |
OMIM:603671 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Gait ataxia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Upper ... |
OMIM:180800 |
Boomerang Dysplasia |
|
Polyhydramnios, Aplasia/Hypoplasia of the fibula, Hydrops fetalis, Finger syndactyly, Abnormality... |
ORPHA:1263 |
Developmental And Epileptic Encephalopathy 4 |
|
Generalized tonic seizure, Spastic tetraplegia, Cerebral hypomyelination, Choreoathetosis, Status... |
OMIM:612164 |
Parkinson Disease 17 |
|
Resting tremor, Akinesia, Rigidity, Parkinsonism, Tremor, Bradykinesia |
OMIM:614203 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Posterior... |
OMIM:122600 |
Tremor, Hereditary Essential, 4 |
|
Action tremor, Postural tremor |
OMIM:614782 |
Nephrolithiasis, Calcium Oxalate |
|
Acute kidney injury, Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstr... |
OMIM:167030 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Wide mouth, Facial cleft, Hydrocephalus, Missing ribs, Hand polydactyly, Conge... |
ORPHA:1647 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Difficulty walking, Fasciculations |
OMIM:615048 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Tremor, Dystonia, Frequent falls |
OMIM:619647 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Prune Belly Syndrome |
|
Congenital posterior urethral valve, Hydroureter, Anal atresia, Xerostomia, Hydronephrosis |
OMIM:100100 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Microcolon, Intestinal malrotation, Megacystis, Hydronephrosis |
OMIM:619431 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity, Bilateral toni... |
OMIM:619028 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Toe syndactyly, Abnormal dental enam... |
ORPHA:2092 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hydrops fetalis, Aplasia of the ulna, Hand oligodactyly, Neonatal death, Endocardial fibroelastosis |
OMIM:276822 |
Neu-Laxova Syndrome 2 |
|
Polyhydramnios, Finger syndactyly, Depressed nasal ridge, Spina bifida, Micrognathia, Toe syndact... |
OMIM:616038 |
Nail-Patella Syndrome |
|
Hypoplasia of first ribs, Biceps aplasia, Cleft upper lip, Patellar hypoplasia, Patellar aplasia,... |
OMIM:161200 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Shuffling gait, Resting tremor, Parkinsonism, Falls, Rigidity, Short stepped shuffling gait, Brad... |
ORPHA:306692 |
Desmoid Tumor |
|
Malabsorption, Abnormality of the upper urinary tract, Intestinal polyposis, Intestinal obstructi... |
ORPHA:873 |
Cloacal Exstrophy |
|
Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydroureter, Hypoplasia of penis, Anal atresia, ... |
ORPHA:93929 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis, Short middle phalanx of the 4th finger, Radioulnar synostosis, Limited pronation... |
OMIM:616738 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Hydrocephalus,... |
ORPHA:2635 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Intestinal malrotation, Hydroureter, Fetal megacystis |
OMIM:249210 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Seizure, Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia |
OMIM:261630 |
Gordon Syndrome |
|
Camptodactyly of finger, High palate, Finger syndactyly, Clinodactyly of the 5th finger, Pectus e... |
ORPHA:376 |
Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Seizure, Rigidity, Oculomotor apraxia, Cerebral hypomyelination, Choreoathetosis, Leu... |
OMIM:612438 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Rigidity, Paraparesis, My... |
OMIM:612736 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Bilateral lung agenesis, Pulmonary hypoplasia, Congenital diaphragmati... |
OMIM:611812 |
Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
Urocanase Deficiency |
|
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait |
OMIM:276880 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Myelin outfoldings,... |
OMIM:607734 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Camptodactyly of finger, Missing ribs, Diastomatomyelia, Duodenal stenosis, Intestin... |
ORPHA:1759 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decreased DLCO,... |
OMIM:610913 |
Lethal Congenital Contracture Syndrome 10 |
|
Fetal akinesia sequence, Hydrops fetalis, Narrow palate, Ventricular septal defect, High palate, ... |
OMIM:617022 |
Mulibrey Nanism |
|
Dental malocclusion, Enamel hypoplasia, Hydrops fetalis, Pericardial constriction, Hypodontia, De... |
OMIM:253250 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida, Vertebral segmentation defect, Abnormal sacrum morphology, Spinal... |
ORPHA:1756 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morph... |
ORPHA:3104 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Kyphosis, Increased laxity of fingers, Spinal rigidity, Hip dislocation, Adducted thumb, Abnormal... |
ORPHA:75840 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Delayed myelination, Seizure, Inability to walk, Generalized myoclonic seizure, Ataxia, Lower lim... |
OMIM:616756 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiolitis |
OMIM:604571 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Myelomeningocele, Kyphosis, Death in infancy, Spina bifida, Clinodactyly of the 5th ... |
ORPHA:1393 |
Hb Bart'S Hydrops Fetalis |
|
Polyhydramnios, Hydrops fetalis, Hydrocephalus, Oligohydramnios, Pericarditis, Preeclampsia |
ORPHA:163596 |
Cerebrooculonasal Syndrome |
|
High palate, Long philtrum, Facial cleft, Widely spaced teeth, Microdontia, Solitary median maxil... |
ORPHA:66625 |
Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
Hydrolethalus Syndrome 2 |
|
Preaxial foot polydactyly, Anencephaly, Hydrocephalus, Postaxial foot polydactyly, Postaxial hand... |
OMIM:614120 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Gait ataxia, Myoclonic seizure, Spasticity, Inability to walk, Apraxia, Dysmetria, Tremor, Atonic... |
OMIM:617810 |
Meckel Syndrome, Type 2 |
|
Meningocele, Polydactyly, Encephalocele, Anencephaly, Intestinal malrotation, Postaxial hand poly... |
OMIM:603194 |
Cartilage-Hair Hypoplasia |
|
Spinal dysraphism, Convex nasal ridge, Abnormal cardiac septum morphology, Wide nasal bridge, Abn... |
ORPHA:175 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Cleft upper lip, Encephalocele, Narrow chest, Cleft palate, Occipital encephalocele,... |
OMIM:613885 |
Iniencephaly |
|
Polyhydramnios, Hyperlordosis, Spinal dysraphism, Encephalocele, Myelomeningocele, Mandibular apl... |
ORPHA:63259 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Hydrops fetalis, Aplastic clavicle, Short ribs, Anencephaly, Hydrocephalus, Atria... |
OMIM:616546 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Spasticity, Delayed myelination, Limb hypertonia, Multifocal seizures, Choreoathetosis, Status ep... |
OMIM:615905 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia, Arthrogryposis multiplex congenita |
OMIM:601809 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, G... |
ORPHA:216873 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Unsteady gait, Intention tremor |
OMIM:302500 |
Trisomy 1Q |
|
Camptodactyly of finger, Polyhydramnios, Hydrops fetalis, Preaxial hand polydactyly, Ventricular ... |
ORPHA:261344 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Leukodystrophy, Spasticity, Delayed myelination, Seizure |
OMIM:617613 |
Diaphragmatic Hernia 2 |
|
Congenital diaphragmatic hernia, Agenesis of the diaphragm |
OMIM:222400 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Ataxia, Demyelinating sensory neuropathy, Dysmetria, Tremor, Steppage gait |
OMIM:618387 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Neuropathic spinal arthropathy, Hip dislocation, Abnormality of the to... |
ORPHA:370968 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Loss of ambulation, Tremor, ... |
ORPHA:521406 |
Pontocerebellar Hypoplasia, Type 2D |
|
Chorea, Delayed myelination, Seizure, Spastic tetraplegia, Appendicular spasticity, Clonus |
OMIM:613811 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Emphysema |
OMIM:618307 |
Fanconi Renotubular Syndrome 5 |
|
Genu valgum, Lung adenocarcinoma, Emphysema, Pulmonary fibrosis, Decreased DLCO |
OMIM:618913 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory insufficiency, Apnea, Respiratory failure, Death in infancy |
OMIM:613869 |
Meacham Syndrome |
|
Neonatal death, Cardiac total anomalous pulmonary venous connection, Diaphragmatic eventration, V... |
OMIM:608978 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
Occipital Horn Syndrome |
|
Genu valgum, Coxa valga, High palate, Capitate-hamate fusion, Broad ribs, Broad clavicles, Pectus... |
OMIM:304150 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
Birt-Hogg-Dubé Syndrome |
|
Pulmonary sequestration, Pneumothorax, Emphysema |
ORPHA:122 |
Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Bifid tongue, Ectopic anus, Toe syndactyly, Elbow dislocation, Pectus ex... |
ORPHA:1507 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... |
ORPHA:1350 |
Bladder Exstrophy |
|
Vesicoureteral reflux, Abnormality of the anus, Recurrent urinary tract infections, Hypoplasia of... |
ORPHA:93930 |
Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:607458 |
Meier-Gorlin Syndrome 1 |
|
Coxa valga, Microdontia, Camptodactyly, Cleft palate, Flat glenoid fossa, Short palm, Aplasia/Hyp... |
OMIM:224690 |
Castleman Disease |
|
Renal insufficiency, Abnormality of the gastrointestinal tract, Hematuria, Generalized lymphadeno... |
ORPHA:160 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, High palate, Hydronephrosis |
ORPHA:85285 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory insufficiency, Broad femoral neck, Hallux valgus, Short 1st metacarpal, Widely spaced... |
OMIM:135100 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis, Pyloric stenosis |
OMIM:617219 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Leukodystrophy, Ataxia, Dysmetria, Loss of ambulation, Tremor, Lower limb spasticity, Dystonia |
OMIM:617916 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Seizure, Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, B... |
ORPHA:284324 |
Thanatophoric Dysplasia, Type Ii |
|
Respiratory insufficiency, Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Platyspondyly,... |
OMIM:187601 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Scimitar Syndrome |
|
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Hypoplasia of the diaphragm, Abnormal hem... |
ORPHA:185 |
Meacham Syndrome |
|
Pulmonary sequestration, Conotruncal defect, Ventricular septal defect, Aplasia/Hypoplasia of the... |
ORPHA:3097 |
Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Clinodactyly, Narrow mouth, Postaxial polydactyly |
OMIM:615984 |
Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Tremor, Myoclonus |
OMIM:159900 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Foot polydactyly, Sho... |
OMIM:258860 |
Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebellar ataxia |
ORPHA:98763 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal respiratory system phys... |
ORPHA:266 |
Dysplastic Cortical Hyperostosis |
|
Polyhydramnios, Hydrops fetalis, Abnormality of limb bone morphology |
ORPHA:2204 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Pectus excavatum, ... |
OMIM:607778 |
Lymphatic Malformation 12 |
|
Polyhydramnios, Lymphedema, Fetal pleural effusion, Nonimmune hydrops fetalis, Fetal ascites, Fet... |
OMIM:620014 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Micrognathia, H... |
OMIM:274000 |
Xeroderma Pigmentosum, Complementation Group G |
|
Infantile spasms, Spasticity, Tremor, Ataxia |
OMIM:278780 |
Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
Trisomy 18 |
|
Camptodactyly of finger, Narrow pelvis bone, Holoprosencephaly, Postaxial hand polydactyly, Abnor... |
ORPHA:3380 |
Ciliary Dyskinesia, Primary, 21 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... |
OMIM:615294 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Flexion contracture, Abnormal lung lobation, Pulmonary hypoplasia, Congenital diaphragmatic herni... |
OMIM:263210 |
Nemaline Myopathy 9 |
|
Polyhydramnios, Fetal akinesia sequence, High palate, Ventricular septal defect, Breech presentat... |
OMIM:615731 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Seizure, Ataxia, Delayed CNS myelination, Tremor |
OMIM:300983 |
Aicardi Syndrome |
|
Bifid ribs, Small hand, Block vertebrae, Hip dysplasia, Supernumerary ribs, Missing ribs, Promine... |
ORPHA:50 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Micrognathia, Abnormal aortic valve morphology, Hand polydactyly, Abnormal vertebral morphology, ... |
ORPHA:261197 |
Trisomy 20P |
|
Camptodactyly of finger, Preaxial hand polydactyly, Finger syndactyly, Kyphosis, Spina bifida, Mi... |
ORPHA:261318 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Thin vermilion border, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Cardiomyopathy |
OMIM:608540 |
Constricting Bands, Congenital |
|
Encephalocele, Facial cleft, Gastroschisis, Hand polydactyly, Ectopia cordis, Abnormal rib cage m... |
OMIM:217100 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Bilateral tonic-clon... |
OMIM:618093 |
Rapid-Onset Dystonia-Parkinsonism |
|
Gait ataxia, Seizure, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Craniofacial dyst... |
ORPHA:71517 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Genu valgum, Coxa vara, Short femoral neck, Abnormality of the epiphysis o... |
ORPHA:93316 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gait ataxia, Spasticity, Hemiballismus, Seizure, Inability to walk, Parkinsonism, Truncal ataxia,... |
OMIM:618877 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure, Tongue fasciculations, Amyotrophic lateral sclerosis, Tongue atrophy |
OMIM:613435 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumothorax, Urethral stricture, Abnormality of the bladder, Dehydration, Pneumonia, Multicystic... |
ORPHA:79404 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
Meckel Syndrome, Type 3 |
|
Polydactyly, Hydrocephalus, Postaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate,... |
OMIM:607361 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Patent foramen ovale, Flexion contracture, Muscle... |
OMIM:616866 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Lumbar kyphosis, S... |
OMIM:253000 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
High palate, Hydroureter, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Hypercalciuria |
OMIM:615398 |
Achondrogenesis |
|
Polyhydramnios, Hydrops fetalis, Long philtrum, Thickened nuchal skin fold, Umbilical hernia |
ORPHA:932 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Seizure, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612716 |
Thoracolaryngopelvic Dysplasia |
|
Hypoplastic iliac wing, Horizontal ribs, Bell-shaped thorax, Short ribs, Irregular chondrocostal ... |
OMIM:187760 |
Caudal Regression Syndrome |
|
Vesicoureteral reflux, Arrhinencephaly, Missing ribs, Renal agenesis, Anal atresia, Pulmonary hyp... |
ORPHA:3027 |
Congenital Tracheomalacia |
|
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... |
ORPHA:95430 |
Folinic Acid-Responsive Seizures |
|
Chorea, Delayed myelination, Seizure, Cerebral hypomyelination, Generalized myoclonic seizure, St... |
ORPHA:79097 |
Leukodystrophy, Hypomyelinating, 2 |
|
Seizure, Progressive spasticity, Rigidity, Leukodystrophy, Cerebral hypomyelination, Choreoatheto... |
OMIM:608804 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Underdeveloped nasal alae, Mandibular prognathia, Wide nasal bridge, Spina bifida, S... |
ORPHA:894 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Progress... |
OMIM:604326 |
Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele, Ventricular septal defect, Umbilical hernia |
ORPHA:2143 |
Trisomy 13 |
|
Hydrops fetalis, Ventricular septal defect, Long philtrum, Atrial septal defect, Median cleft lip... |
ORPHA:3378 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Ankle clonus, Seizure, Resting tremor, Babinski sign, Spastic paraparesis, Scissor ga... |
ORPHA:363654 |
Vacterl With Hydrocephalus |
|
Retrognathia, Polyhydramnios, Femoral hernia, Aqueductal stenosis, Absence of the sacrum, Spina b... |
ORPHA:3412 |
White Forelock With Malformations |
|
Finger syndactyly, Deep philtrum, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal ... |
ORPHA:2475 |
Ochoa Syndrome |
|
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Renal insufficie... |
ORPHA:2704 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Chorea, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Delayed ... |
OMIM:619725 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Bilateral lung agenesis, Diaphragmatic eventration, Truncus arteri... |
OMIM:601186 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
Joubert Syndrome 18 |
|
Lobulated tongue, Arrhinencephaly, Camptodactyly, Cleft palate, Occipital encephalocele, Trident ... |
OMIM:614815 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Generalized ... |
ORPHA:2790 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... |
ORPHA:90117 |
Colorectal Cancer |
|
Renal cell carcinoma, Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma |
OMIM:114500 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
2-3 toe syndactyly, Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Wide nas... |
ORPHA:508498 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Short 5th finger, Clinodactyly of the 5th finger, Oligohydramnios, Syndactyly, Small... |
ORPHA:397590 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607688 |
Pallister-Hall Syndrome |
|
Short 4th metacarpal, Toe syndactyly, Hip dislocation, Holoprosencephaly, Postaxial hand polydact... |
OMIM:146510 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Spinal dysraphism, Encephalo... |
ORPHA:1908 |
Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Micrognathia, Elbow contracture, Pectus excavatum, Broad hallux, Short hallux, Sh... |
OMIM:304120 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Apnea, Split hand, Respiratory failure, Neonatal death |
OMIM:610127 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Intestinal malrotation, Intestinal pseudo... |
OMIM:300048 |
Nephronophthisis 20 |
|
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... |
OMIM:617271 |
Thoracoabdominal Syndrome |
|
Ventral hernia, Ectopia cordis, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Omphalocel... |
OMIM:313850 |
Dystonia 12 |
|
Parkinsonism, Torticollis, Tremor, Unsteady gait, Dystonia, Bradykinesia |
OMIM:128235 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Seizure, Hemiparesis, Focal-onset seizure, Status epilepticus, Ataxia, Tremor, Intent... |
OMIM:614307 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Hydronephrosis, Genu valgum, Coxa valga, Narrow ... |
OMIM:309350 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Familial Dyskinesia And Facial Myokymia |
|
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Difficulty walking, Dystonia |
ORPHA:324588 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Genu valgum, Fragmented epiphyses, Epiphyseal dysplasia, Dislocated radial head, Flattened epiphy... |
ORPHA:166016 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Slender long bone, Nonimmune hydrops fetalis, Brachydactyly, Cleft palate, Craniosynostosis, Thin... |
OMIM:618265 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Spasticity, Onion bulb formation, Babinsk... |
OMIM:609260 |
Isolated Hemihyperplasia |
|
Myelomeningocele, Asymmetry of the thorax, Abnormality of the dentition |
ORPHA:2128 |
Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Median cleft lip, Split foot, Sp... |
DECIPHER:46 |
46,Xy Sex Reversal 4 |
|
High palate, Renal dysplasia, Anal atresia, Ureteropelvic junction obstruction, Cleft palate, Hyd... |
OMIM:154230 |
Frontofacionasal Dysplasia |
|
Encephalocele, Depressed nasal ridge, Short stature, Facial cleft, Short nose, Dimple on nasal ti... |
ORPHA:1791 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology, Slender long bone, Abnormal palate morphology, Abnormal pelvic girdle bo... |
ORPHA:1506 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Aplasia/Hypoplasia of the lungs, Abnormality of the upper urinary tract, Oligo... |
ORPHA:2145 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Hydrops Fetalis |
|
Polyhydramnios, Lymphedema, Pericardial effusion, Increased placental thickness, Nonimmune hydrop... |
ORPHA:1041 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:618815 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Seizure, Postural tremor, Leukodystrophy, Ataxia, Babinski sign, Dysmetria, Loss of a... |
OMIM:607694 |
Diastrophic Dysplasia |
|
Genu valgum, Hip contracture, Short long bone, Talipes equinovarus, Short finger, Ulnar deviation... |
OMIM:222600 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat... |
OMIM:276820 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary hypoplasia, Cardiomyopathy |
OMIM:619003 |