| Ureter, Cancer Of |
|
Neoplasm of the ureter |
OMIM:191600 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Babinski sign, Lower limb spasticity, Progressive spastic paraplegia, Spastic gait, ... |
ORPHA:401840 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Leukodystrophy, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity... |
OMIM:614561 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... |
DECIPHER:39 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis |
|
Status epilepticus, Inability to walk, Delayed myelination, Seizure, Tetraplegia |
OMIM:618331 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Pectus excavatum, High, narrow palate, Cleft palate, Camptodactyl... |
ORPHA:957 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Ataxia, Cavitating leukodystrophy, Seizure |
OMIM:619061 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Myoclonus, Tremor, Involuntary movements, Seizure, Dystonia |
OMIM:611092 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Hypoplastic lef... |
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 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Seizure, Foca... |
OMIM:615400 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the upper urinary tract, Abnormality of the ureter |
ORPHA:3266 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Atonic seizure, Generalized myoclonic seizure, Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
| Gastric Cancer |
|
Increased level of L-fucose in urine, Stomach cancer |
OMIM:613659 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus, Seizure |
OMIM:616366 |
| Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:265430 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Seizure |
OMIM:616921 |
| Congenital Primary Megaureter |
|
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... |
ORPHA:617 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Hypoplastic left heart, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the radius... |
ORPHA:2476 |
| Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... |
ORPHA:60033 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Babinski sign, Lower limb spasticity, Difficulty walking, Progressive spastic paraplegia, Limb tr... |
ORPHA:401820 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Abnormal heart morphology, Congenital diaphragmatic hernia, Emphysema |
OMIM:614100 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure, Dyst... |
OMIM:618425 |
| Periventricular Nodular Heterotopia 8 |
|
Delayed myelination, Spasticity, Seizure |
OMIM:618185 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... |
ORPHA:79127 |
| Cutis Laxa-Marfanoid Syndrome |
|
Abnormal heart valve morphology, Congenital diaphragmatic hernia, Flexion contracture, Emphysema |
ORPHA:171719 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Cleft palate, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly, Abnor... |
ORPHA:294975 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
| Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Lumbar hyperlordosis, Atlantoaxial dislocation, Os odontoideum, Spondylolysis, Atlantoaxial insta... |
OMIM:600561 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus, Seizure |
OMIM:616187 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2140 |
| Primary Hyperoxaluria Type 2 |
|
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... |
ORPHA:93599 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... |
ORPHA:70589 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Tremo... |
OMIM:617831 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Vertebral segmentation defect, Rib fusion, Short stature, Hemivertebrae, Spina ... |
OMIM:613686 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Acalvaria |
|
Hydrocephalus, Cleft palate, Holoprosencephaly, Postaxial hand polydactyly, Spina bifida |
ORPHA:945 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of the dentition, Pectus carinatum, Radioulnar synost... |
ORPHA:3268 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Renal agenesis, Anal atresia, Ureteral dysgenesis, Ureteral agenesis |
OMIM:274265 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Ataxia, Demyelinating peripheral neuropathy, Babinski sign, Frequent falls, Spasticity, Delayed C... |
OMIM:619742 |
| Femoral-Facial Syndrome |
|
Sprengel anomaly, Coxa vara, Rib fusion, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Cl... |
ORPHA:1988 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Emphysema, Hereditary Pulmonary |
|
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema |
OMIM:130700 |
| Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... |
ORPHA:2345 |
| Vesicoureteral Reflux 3 |
|
Hydroureter, Vesicoureteral reflux, Hydronephrosis |
OMIM:613674 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Holoprosencephaly, Short femur, Anterior encephalocele, Bilateral cleft lip and ... |
OMIM:601357 |
| Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Talipes equinovarus, Joint contracture of the hand, Small thenar eminence, Dermatoglyphic ridges ... |
OMIM:211960 |
| Fryns Microphthalmia Syndrome |
|
Bilateral cleft lip and palate, Facial cleft, Neural tube defect |
OMIM:600776 |
| Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Epileptic spasm, Stereotypical hand wringing, Tremor, Seizure |
OMIM:619561 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Kyphosis, Rib fusion, Abnormal intervertebral disk morphology, Ano... |
ORPHA:2311 |
| Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
| Nuchal Bleb, Familial |
|
Hydrops fetalis, Stillbirth, Fetal cystic hygroma |
OMIM:257350 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Overlapping toe, Pectus excavatum, Prominent sternum, Flexion contracture of finger, Macroglossia... |
ORPHA:254528 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor |
OMIM:619491 |
| Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
| Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Status epilepticus, Inability to walk, Delayed myelination, Spastic diplegia, S... |
OMIM:617830 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal hemifacial clonic seizure, Myoclonus, Writer's cramp, Tremor, Seizure, Focal-onset seizure,... |
OMIM:608105 |
| Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Bila... |
OMIM:300423 |
| Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Barrel-shaped chest, 11 pairs of ribs, Micromelia, Nonimmun... |
OMIM:215140 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Triopia |
|
Cleft palate, Midline facial cleft, Polyhydramnios, Median cleft lip, Encephalocele |
ORPHA:3374 |
| Metatropic Dysplasia |
|
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... |
OMIM:156530 |
| Achondrogenesis, Type Ii |
|
Cleft palate, Short ribs, Hydrops fetalis, Short tubular bones of the hand, Polyhydramnios, Hypop... |
OMIM:200610 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Bifid uvula, Hydronephrosis |
ORPHA:2669 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Short ribs, Flared metaphysis, Hydrops fetalis, Polyhydram... |
OMIM:215045 |
| Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Wheezing, Cough, Gastric ... |
OMIM:613490 |
| Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
| Tremor, Hereditary Essential, 5 |
|
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor |
OMIM:616736 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Hypertonia, Ataxia, Delayed myelination, Leukodystrophy, Spasticity, Clonus |
OMIM:616881 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Abnormal myelination, Hand tremor, Progressive spastic paraplegia |
ORPHA:401835 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus, Bilateral tonic-clonic seizure, Seizure |
OMIM:615127 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
| Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
| Basal Cell Nevus Syndrome |
|
Hydrocephalus, Hemivertebrae, Down-sloping shoulders, Mandibular prognathia, Vertebral wedging, S... |
OMIM:109400 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
High palate, Kyphosis, Paucity of anterior horn motor neurons, Hip dysplasia, Short neck, Scolios... |
OMIM:611890 |
| Nemaline Myopathy 9 |
|
High palate, Respiratory insufficiency, Scoliosis, Cleft palate |
OMIM:615731 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2487 |
| Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Cleft palate, Absent proximal finger flexion creases, Talipes equinovarus, Aplasia... |
ORPHA:2839 |
| Anophthalmia Plus Syndrome |
|
Cleft palate, Deviation of finger, Bilateral cleft lip and palate, Facial cleft, Non-midline clef... |
ORPHA:1104 |
| Hypophosphatasia |
|
Abnormality of the dentition, Respiratory insufficiency, Abnormal rib morphology, Bowing of the l... |
ORPHA:436 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Generalized myoclonic seizure, Rigidity, Gait disturbance, Tremor, ... |
OMIM:618090 |
| Neuronal Intestinal Pseudoobstruction |
|
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia |
ORPHA:99811 |
| Becker Nevus Syndrome |
|
Rib fusion, Pectus excavatum, Micromelia, Spina bifida occulta, Abnormality of tibia morphology, ... |
ORPHA:64755 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Loss of ambulation, Ataxia, Atonic seizure, Myoclonus, Tremor, Difficulty walking, Bilateral toni... |
OMIM:614018 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
| Thymic Aplasia With Fetal Death |
|
Pulmonary hypoplasia, Stillbirth, Truncus arteriosus |
OMIM:274210 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Severe short stature, Short neck, Scoliosis, Posterior rib fusion,... |
ORPHA:1797 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Polyhydramnios, Umbilical hernia, Thoracic hypoplasia, Large placenta |
ORPHA:254534 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Babinski sign, Spastic paraplegia, Spasticity, Abnormal myelination |
ORPHA:431329 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Anal atresia, Aganglionic megacolon, Hydronephrosis |
OMIM:235760 |
| Achondrogenesis, Type Ib |
|
Short ribs, Hypoplastic ilia, Hydrops fetalis, Polyhydramnios, Edema, Umbilical hernia, Stillbirt... |
OMIM:600972 |
| Dysmyelination With Jaundice |
|
Hydroureter, Hypoplasia of penis, Hydronephrosis |
OMIM:224250 |
| Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:616421 |
| Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Unilateral absence of pectoral... |
OMIM:173800 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
| Acrofacial Dysostosis, Catania Type |
|
Pectus excavatum, Microretrognathia, Clinodactyly of the 5th finger, Inguinal hernia, Short statu... |
ORPHA:1786 |
| Spinal Muscular Atrophy, Type I |
|
Death in childhood, Respiratory insufficiency, Tongue fasciculations, Respiratory failure, Recurr... |
OMIM:253300 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease |
OMIM:610805 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Gait disturbance, Tremor, Kinetic tremor |
OMIM:611808 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Abnormality of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Omphalocele |
OMIM:601163 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
| Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Pulmonary sequestration, Bicuspid aortic valve, Atrial septal defect, Congenital... |
ORPHA:2847 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Difficulty walking, Abnormal pyramidal sign, Progressive cerebellar ataxia, Postural tremor |
ORPHA:85292 |
| Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Facial cleft, Cleft palate |
OMIM:600251 |
| Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Pulmonary arterial hypertension |
ORPHA:1164 |
| Aicardi-Goutieres Syndrome 6 |
|
Loss of ambulation, Leukodystrophy, Rigidity, Tremor, Dystonia |
OMIM:615010 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:2141 |
| Rudiger Syndrome |
|
Ureterovesical stenosis, Micropenis |
OMIM:268650 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Atypical absence seizure, Atonic seizure, Absence seizure with eyelid myoclonia, Focal impaired a... |
OMIM:618587 |
| Serkal Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:139466 |
| Mosaic Trisomy 9 |
|
Hemivertebrae, Short neck, Finger clinodactyly, Ventricular septal defect, Facial cleft, Rocker b... |
ORPHA:99776 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Narrow chest, Dental malocclusion, Short distal phalanx of finger, Pectus excavatum, Short toe, S... |
ORPHA:1327 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Gastroesophageal reflux, Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract inf... |
OMIM:191800 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... |
OMIM:311895 |
| Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
| Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Congenital diaphragmatic hernia, Omphalocele |
OMIM:613630 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Tremor, Difficulty walking, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:613608 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Rib fusion, Contracture of the proximal interphalangeal ... |
OMIM:609813 |
| Schisis Association |
|
Anal atresia, Cleft palate, Tracheoesophageal fistula, Anencephaly, Micromelia, Unilateral cleft ... |
ORPHA:63862 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Dystonia 23 |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Limb dystonia |
OMIM:614860 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Cardiomyopathy, Oligohydramnios... |
ORPHA:1909 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Gait disturbance, Tremor, Babinski sign, Spastic paraplegia |
OMIM:300660 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... |
OMIM:617405 |
| Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Abnormal ... |
OMIM:612387 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Hand tremor, Spastic dysarthria, Abnormal myelination, Progressive spastic paraplegia, Lower limb... |
ORPHA:401830 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Hemiparesis, Tremor, Seizure |
OMIM:141500 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis, Upper limb undergrowth |
OMIM:613124 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Cerebral dysmyelination, Respiratory insufficiency, Central apnea, Death in infancy, Respiratory ... |
OMIM:611722 |
| Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Spina bifida occulta, Spina bifida, Finger syndactyly, Toe syndactyly |
ORPHA:64754 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
| Vacterl Association With Hydrocephalus |
|
Anal atresia, Hydrocephalus, Aqueductal stenosis, Absent thumb, Radial club hand, Respiratory ins... |
OMIM:276950 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Accessory oral frenulum, Postaxial polydactyly, Preaxial polydact... |
OMIM:617927 |
| 46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the ... |
OMIM:618901 |
| Diaphanospondylodysostosis |
|
Myelomeningocele, Enlarged thorax, Cleft palate, Narrow pelvis bone, Missing ribs, Short thorax |
ORPHA:66637 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Seizure, Abnormality of extrapyramidal motor function |
OMIM:615362 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Anal atresia, Pectus excavatum, Intestinal atresia, Intestinal malrotat... |
ORPHA:2970 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Acropectoral Syndrome |
|
Pectus excavatum, Preaxial polydactyly, Partial duplication of thumb phalanx, Pectus carinatum, T... |
OMIM:605967 |
| Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia, CNS demyelination |
OMIM:610245 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the uret... |
ORPHA:1046 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... |
ORPHA:2779 |
| Developmental And Epileptic Encephalopathy 17 |
|
Delayed myelination, Generalized tonic seizure, Chorea, Athetosis, Dystonia |
OMIM:615473 |
| Developmental And Epileptic Encephalopathy 91 |
|
Delayed myelination, Spasticity, Unsteady gait, Seizure |
OMIM:617711 |
| Urofacial Syndrome 1 |
|
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... |
OMIM:236730 |
| Fetal Parvovirus Syndrome |
|
Hydrops fetalis, Increased nuchal translucency, Ascites, Hypertrophic cardiomyopathy |
ORPHA:295 |
| Vesicoureteral Reflux, X-Linked |
|
Vesicoureteral reflux |
OMIM:314550 |
| Vesicoureteral Reflux 1 |
|
Vesicoureteral reflux |
OMIM:193000 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Gait disturbance, Limb dysmetria, Tremor, C... |
ORPHA:363710 |
| Acrofacial Dysostosis, Weyers Type |
|
Clinodactyly of the 5th finger, Hypodontia, Small hand, Abnormality of the dentition, Overlapping... |
ORPHA:952 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Leukodystrophy, Rigidity, Cerebral hypomyelination, Tremor, Choreoathetosis, Spasticity, ... |
OMIM:612438 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Seizure, Abnormality ... |
ORPHA:79262 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, High palate, Cleft palate, Respiratory insufficiency, Camptodactyly of fing... |
OMIM:614399 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... |
OMIM:609052 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Babinski sign, Spastic paraplegia, Tremor, Difficulty walking, Febrile seizure ... |
ORPHA:477673 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Vertebral segmentation defect, Short distal phalanx of finger, Bicuspid aortic valve, Anomalous p... |
ORPHA:1120 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Pectus excavatum, Craniosynostosis, Hemivertebrae, Short neck, Hypoplasia of the maxilla, Sacral ... |
OMIM:213980 |
| Urofacial Syndrome 2 |
|
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... |
OMIM:615112 |
| Hinman Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... |
ORPHA:84085 |
| Hyperekplexia 4 |
|
High palate, Kyphoscoliosis, Adducted thumb, Camptodactyly, Umbilical hernia, Respiratory failure |
OMIM:618011 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Cleft upper lip, High, narrow palate, Cleft palate, Broad proximal phalanges of the hand, Ethmoid... |
OMIM:607597 |
| Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
| Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Delayed myelination, Difficulty walking, Spasticity, Seizure |
OMIM:617393 |
| Multiple Synostoses Syndrome 3 |
|
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... |
OMIM:612961 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Absent glenoid fossa, Clinodac... |
ORPHA:96334 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Inability to walk... |
ORPHA:2590 |
| Mosaic Trisomy 16 |
|
Wide mouth, Meckel diverticulum, Single umbilical artery, Premature birth, Syndactyly, Short femo... |
ORPHA:1708 |
| Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Facial cleft, Bowing of the long bones, Intrauterine growth retardation, S... |
ORPHA:1505 |
| Sprengel Deformity |
|
Abnormality of the shoulder girdle musculature, Shoulder muscle hypoplasia, Abnormal shoulder mor... |
ORPHA:3181 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
| Otopalatodigital Syndrome Type 2 |
|
Cleft palate, Ureteral obstruction, Pulmonary hypoplasia, Bowing of the long bones, Encephalocele... |
ORPHA:90652 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Leukodystrophy, Myoclonus, Tremor, Spasticity, CNS hypomyelination |
OMIM:616494 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... |
ORPHA:93316 |
| Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:600116 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
| Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Coronal cleft vertebrae, Cleft palate, Bifid humerus, Horizontal sacrum, In... |
OMIM:256050 |
| Exostoses, Multiple, Type Ii |
|
Coxa vara, Scapular exostoses, Madelung-like forearm deformities, Genu valgum, Rib exostoses, Pro... |
OMIM:133701 |
| Exostoses, Multiple, Type I |
|
Coxa vara, Scapular exostoses, Madelung-like forearm deformities, Genu valgum, Rib exostoses, Pro... |
OMIM:133700 |
| Fibrochondrogenesis 1 |
|
Cleft palate, Dumbbell-shaped long bone, Posterior rib cupping, Short long bone, Widely patent co... |
OMIM:228520 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Focal motor seizure, Akinesia, Freezing of gait, Clumsiness, Bradykinesia, Resting tremor, Parkin... |
OMIM:619911 |
| Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Hiatus hernia, Postnatal growth retardation, Promine... |
OMIM:304050 |
| Infantile Sialic Acid Storage Disease |
|
High palate, Metaphyseal irregularity, Gingival overgrowth, Hydrocephalus, Hydrops fetalis, Ascit... |
OMIM:269920 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Weakness of facial musculature, Short neck, Down-sloping shoulders, ... |
OMIM:265000 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Gingival overgrowth, Short neck, Gingival fibromatosis, Median cleft lip an... |
ORPHA:1832 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
| Achondrogenesis Type 1A |
|
Multiple rib fractures, Thickened nuchal skin fold, Hydrops fetalis, Long philtrum, Polyhydramnio... |
ORPHA:93299 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Severe short stature, Short... |
OMIM:277300 |
| Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Hydrops fetalis, Long philtrum, Abnormal rib morphology, Polyhydramni... |
ORPHA:93298 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Seizure, Dystonia |
OMIM:615924 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Cleft palate, Short 5th finger, Facial cleft, ... |
OMIM:239800 |
| Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Intraalveolar phosp... |
OMIM:265120 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... |
OMIM:615528 |
| Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Status epilepticus, Ataxia, Action tremor, Focal motor seizure, Poor coordinati... |
OMIM:617665 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Vertebral segmentation defect, Rib fusion, Intrauterine growth retardation, Pectus excavatum, Abn... |
ORPHA:2990 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Poor fine motor coordination, Focal imp... |
ORPHA:36387 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Abnormality of the pulmonary artery, Congenital diaphragmatic hernia, ... |
ORPHA:1166 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Pectus excavatum, Postaxial polydactyly, Adducted thumb, Overlapp... |
OMIM:618167 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:617917 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Metaphyseal irregularity, Dislocated radial head, Flat capital femoral epiphysis, Slender distal ... |
OMIM:603546 |
| Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the tongue, Abnormal ... |
ORPHA:2759 |
| Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
| Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Metaphyseal cupping, Cleft palate, Hydrops fetalis, Hypoplasia of... |
ORPHA:85166 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bradykinesia, Generalized myoclonic seizure, Rigidity, Tremor, Bilateral tonic-clonic sei... |
OMIM:617836 |
| Parkinson Disease 22, Autosomal Dominant |
|
Gait disturbance, Tremor, Bradykinesia, Resting tremor |
OMIM:616710 |
| Leukodystrophy, Hypomyelinating, 9 |
|
Ataxia, Dysmetria, Intention tremor, Leukodystrophy, Spasticity, Abnormality of extrapyramidal mo... |
OMIM:616140 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia, Seizure |
OMIM:617862 |
| Jeune Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Nephronophthisis, Cone-s... |
ORPHA:474 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
| Oculomaxillofacial Dysostosis |
|
Cleft palate, Adducted thumb, Abnormality of the dentition, Camptodactyly of finger, Abnormality ... |
ORPHA:1794 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... |
OMIM:617284 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Pulmonary hypoplasia |
OMIM:614096 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pul... |
OMIM:616867 |
| Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
| Lethal Congenital Contracture Syndrome 10 |
|
High palate, Narrow palate, Adducted thumb, Overriding aorta, Overlapping fingers, Long philtrum,... |
OMIM:617022 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Status epilepticus, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... |
ORPHA:330050 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
| Corticobasal Syndrome |
|
Akinesia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia... |
ORPHA:454887 |
| Axial Mesodermal Dysplasia Spectrum |
|
Anal atresia, Renal hypoplasia/aplasia, Gastroesophageal reflux, Morphological abnormality of the... |
ORPHA:1834 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Knee flexion contracture, Pulmonary hypoplasia, Arthrogrypo... |
OMIM:616531 |
| Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Cleft palate, Short femur, Short ribs, Adducted thumb, Flared metaphy... |
OMIM:616897 |
| Kagami-Ogata Syndrome |
|
Pursed lips, Coat hanger sign of ribs, Premature birth, Bell-shaped thorax, Polyhydramnios, Broad... |
ORPHA:254519 |
| Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Cleft palate, Limb duplication, Hand polydactyly, Hip dislocation |
OMIM:223200 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Hyperextensibility of the finger joints, Respiratory insufficiency, Platyspondyly, Tape... |
OMIM:313420 |
| Jawad Syndrome |
|
Thoracic scoliosis, Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent ... |
OMIM:251255 |
| Loeys-Dietz Syndrome 4 |
|
High palate, Spondylolisthesis, High, narrow palate, Eosinophilic infiltration of the esophagus, ... |
OMIM:614816 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Lateral clavicle hook, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Po... |
OMIM:615633 |
| Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Advanced ossification of carpal bones, Cleft palate, Short ribs, Anteri... |
OMIM:269250 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture |
OMIM:122850 |
| Dystonia 16 |
|
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, Limb dystonia, P... |
ORPHA:210571 |
| Cerebrofaciothoracic Dysplasia |
|
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Narrow chest, Bifid ribs, Short stat... |
ORPHA:1394 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Generalized-onset seizure, Hand tremor, Focal-onset seizure |
ORPHA:86814 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Flexion contracture, Scapular winging, Camptodactyly, Distal arthrogryposis, Pul... |
OMIM:617468 |
| 46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Anal atresia, Renal hypoplasia/aplasia, Intestinal malrotation, Tracheo... |
ORPHA:2973 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Pectus excavatum, Atrial septal defect, Abnormal rib cage morphology, Short stature, Hemivertebra... |
OMIM:608406 |
| Aplasia Cutis Congenita |
|
Spinal dysraphism, Finger syndactyly, Toe syndactyly |
ORPHA:1114 |
| Primary Pulmonary Hypoplasia |
|
Cleft palate, Ureteral stenosis, Pulmonary hypoplasia, Abnormal pulmonary artery morphology, Pneu... |
ORPHA:2257 |
| Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Syndactyly, Poly... |
OMIM:613005 |
| Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... |
OMIM:255320 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate, Hand oligodactyly |
OMIM:172880 |
| Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Neonatal death, Pulmonary hypoplasia, Arthrogryposis multiplex con... |
OMIM:253310 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Neonatal death, Hydronephrosis, Fetal megacystis, Microcolon, Megacystis |
OMIM:619362 |
| Fountain Syndrome |
|
Short distal phalanx of finger, Kyphosis, Metaphyseal dysplasia, Pectus excavatum, Facial edema, ... |
ORPHA:3219 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
| Cat-Eye Syndrome |
|
Anal atresia, Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis |
ORPHA:195 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... |
ORPHA:99657 |
| Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Respiratory failure |
OMIM:208081 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait |
OMIM:615768 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
| Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Short 1st metacarpal, Respiratory insufficiency, Metaphyseal wide... |
OMIM:135100 |
| Fibular Hemimelia |
|
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... |
ORPHA:93323 |
| Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:601068 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Overlapping fingers, Congenital hip dislocation, Scoliosis, Respiratory failure, Respir... |
OMIM:618291 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the legs, Narrow mouth, Hydrocephalus, Cleft palate, Short ribs, Single umbilical arter... |
ORPHA:1865 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
| Meckel Syndrome, Type 1 |
|
Wide mouth, Hydrocephalus, Cleft palate, Anencephaly, Lobulated tongue, Bowing of the long bones,... |
OMIM:249000 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Unsteady ... |
OMIM:616053 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... |
OMIM:619773 |
| Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... |
ORPHA:391411 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
High palate, Short distal phalanx of finger, Cleft palate, Short ribs, Postaxial polydactyly, Sho... |
OMIM:614091 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Atonic seizure, Myoclonus, Rigidity, Progressive extrapyramidal ... |
OMIM:612736 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Status epilepticus, Ataxia, Delayed myelination, Involuntary movements, Spasticity, Multifocal se... |
OMIM:615905 |
| Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity, Seizure |
OMIM:600363 |
| Bor Syndrome |
|
Renal hypoplasia/aplasia, Cleft palate, Multicystic kidney dysplasia, Ureteropelvic junction obst... |
ORPHA:107 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
| Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
| Heart-Hand Syndrome Type 2 |
|
Abnormal palate morphology, Abnormal clavicle morphology, Abnormal morphology of ulna, Asymmetry ... |
ORPHA:1350 |
| Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
| Meckel Syndrome, Type 8 |
|
Cleft upper lip, Talipes equinovarus, Cleft palate, Polydactyly, Postaxial hand polydactyly, Ence... |
OMIM:613885 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia, Hydrops fetalis, Ventricular septal defect, Polyhydramnios,... |
ORPHA:3405 |
| Czeizel-Losonci Syndrome |
|
High palate, Ectrodactyly, Myelomeningocele, Hydrocephalus, Split foot, Thickened nuchal skin fol... |
ORPHA:2437 |
| Fanconi Anemia, Complementation Group O |
|
Anal atresia, Neonatal death, Renal cyst, Hydronephrosis, Rectal atresia, Stage 5 chronic kidney ... |
OMIM:613390 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Stomach cancer, Enlarged poly... |
ORPHA:2869 |
| Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, H... |
ORPHA:1263 |
| Occipital Horn Syndrome |
|
Narrow chest, Bladder diverticulum, Short clavicles, Pectus excavatum, Coxa valga, High palate, H... |
OMIM:304150 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Emphysema |
OMIM:618307 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck, Disprop... |
OMIM:608681 |
| Nephrolithiasis, Calcium Oxalate |
|
Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney injury, Hyperox... |
OMIM:167030 |
| Pontocerebellar Hypoplasia, Type 2D |
|
Delayed myelination, Chorea, Clonus, Spastic tetraplegia, Seizure |
OMIM:613811 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Neonatal death, Endocardial fibroelastosis |
OMIM:276822 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... |
OMIM:270500 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
| Developmental And Epileptic Encephalopathy 16 |
|
Status epilepticus, Delayed myelination, Abnormality of extrapyramidal motor function, Myoclonus,... |
OMIM:615338 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... |
OMIM:180800 |
| Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus |
ORPHA:1931 |
| Meckel Syndrome, Type 11 |
|
Oligohydramnios, Occipital encephalocele, Polydactyly |
OMIM:615397 |
| Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Tip-toe gait, Dysmetria, Intention tremor, Babinski sign, Abnorma... |
ORPHA:397946 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Gait atax... |
ORPHA:423275 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Motor tics, Myoclonus, ... |
OMIM:619725 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Seizure |
OMIM:612016 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Kyphosis, Slender finger, Long toe, Increased laxity of fingers, Adducted thumb, Spinal rigidity,... |
ORPHA:75840 |
| Arthrogryposis, Distal, Type 1C |
|
High palate, Metacarpophalangeal joint contracture, Narrow mouth, Clinodactyly of the 5th finger,... |
OMIM:619110 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Intestinal malrotation, Hydroureter, Hydronephrosis, Microcolon, Megacystis |
OMIM:619431 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
| Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Wide mouth, Hydrocephalus, Congenital hip dislocation, Oral cleft... |
ORPHA:1647 |
| Cloacal Exstrophy |
|
Anal atresia, Renal hypoplasia/aplasia, Hypoplasia of penis, Ureterocele, Intestinal malrotation,... |
ORPHA:93929 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Limited pronation/supination of forearm, Cleft palate, Hydrops fetalis, Overlapping fingers, Radi... |
OMIM:616738 |
| Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
| Parkinson Disease 17 |
|
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
| Desmoid Tumor |
|
Malabsorption, Desmoid tumors, Abnormality of the upper urinary tract, Intestinal obstruction, In... |
ORPHA:873 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Short neck, Duplic... |
OMIM:268310 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Myelin outfoldings, Tremo... |
OMIM:607734 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Severe short stature, Hemivertebrae, Short neck, Scoliosis, Posterior rib fu... |
OMIM:122600 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Leukodystrophy, Delayed myelination, Spasticity, Seizure |
OMIM:617613 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Limb ataxia, Babinski sign, Spastic dysarthria, Lower limb spasticity, Tremor, Diffic... |
ORPHA:251282 |
| Bare Lymphocyte Syndrome, Type I |
|
Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis |
OMIM:604571 |
| Gordon Syndrome |
|
High palate, Clinodactyly of the 5th finger, Pectus excavatum, Cleft palate, Camptodactyly of fin... |
ORPHA:376 |
| Asbestos Intoxication |
|
Oxygen desaturation on exertion, Interlobular septal thickening, Lung adenocarcinoma, Reduced vit... |
ORPHA:2302 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Dysmetria, Myoclonus, Tremor, Lowe... |
OMIM:619028 |
| Developmental And Epileptic Encephalopathy 54 |
|
Delayed myelination, Seizure |
OMIM:617391 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus, Preeclampsia, Hydrops fetalis, Polyhydramnios, Pericarditis, Oligohydramnios |
ORPHA:163596 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Gait... |
ORPHA:216873 |
| Split-Hand/Foot Malformation 1 |
|
Ectrodactyly, Hand oligodactyly, Split foot, Cleft palate, Syndactyly, Broad hallux, Triphalangea... |
OMIM:183600 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Difficulty walking, Fasciculations |
OMIM:615048 |
| Mulibrey Nanism |
|
Myocardial fibrosis, Dental malocclusion, Hypodontia, Hydrops fetalis, Thickened cortex of long b... |
OMIM:253250 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Seizure, Dystonia |
OMIM:261630 |
| Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... |
ORPHA:3104 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Inability to walk, Atonic seizure, Dysmetria, Myoclonic seizure, Tremor, Gait ataxia, Bilateral t... |
OMIM:617810 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hy... |
OMIM:611812 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Broad-based gait, Ataxia, Inability to walk, Delayed myelination, Generalized myoclonic seizure, ... |
OMIM:616756 |
| Cerebrooculonasal Syndrome |
|
High palate, U-Shaped upper lip vermilion, Long philtrum, Microdontia, Postaxial hand polydactyly... |
ORPHA:66625 |
| Craniorachischisis |
|
Myelomeningocele, Anal atresia, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphis... |
ORPHA:63260 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Fetal megacystis, Hydroureter, Intestinal malrotation |
OMIM:249210 |
| Prune Belly Syndrome |
|
Anal atresia, Hydroureter, Xerostomia, Hydronephrosis, Urethral valve, Congenital posterior ureth... |
OMIM:100100 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Nephrolithiasis, Hydroureter, Vesicoureteral reflux, Pyloric stenosis |
OMIM:617219 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Pulmonary hypoplasia |
OMIM:615228 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Ureteral atresia, Hydronephrosis |
OMIM:183802 |
| Thoraco-Abdominal Enteric Duplication |
|
Duodenal stenosis, Intestinal malrotation, Camptodactyly of finger, Dextrocardia, Missing ribs, D... |
ORPHA:1759 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized myoclonic seizure, Myoclonus, Tongue fasciculations, Frequent falls, Tremor, Difficul... |
OMIM:159950 |
| Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Decreased DLCO, Genu valgum, Emphysema, Pulmonary fibrosis |
OMIM:618913 |
| Trisomy 1Q |
|
Anal atresia, Narrow mouth, Hydrocephalus, Cleft palate, Arachnodactyly, Camptodactyly of finger,... |
ORPHA:261344 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Atrial septal defect, Cleft palate, Postaxial polydactyly, Preaxial polydactyly, S... |
OMIM:616546 |
| Limb Body Wall Complex |
|
Hydrocephalus, Cleft palate, Aplasia of the proximal phalanges of the hand, Anencephaly, Broad ha... |
ORPHA:2369 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Cleft palate, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly,... |
OMIM:614120 |
| Aphalangy With Hemivertebrae |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:207620 |
| Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
| Au-Kline Syndrome |
|
High palate, Overlapping toe, Pectus excavatum, Cleft palate, Postaxial polydactyly, Thickened nu... |
OMIM:616580 |
| X-Linked Intellectual Disability, Schimke Type |
|
High palate, Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Pulmonary hypoplasia, Abnormal lung lobation |
ORPHA:2631 |
| Bladder Exstrophy |
|
Abnormality of the anus, Hypoplasia of penis, Intestinal malrotation, Abnormality of the ureter, ... |
ORPHA:93930 |
| Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
| Meckel Syndrome, Type 2 |
|
Cleft palate, Intestinal malrotation, Anencephaly, Polydactyly, Postaxial hand polydactyly, Bowin... |
OMIM:603194 |
| Autosomal Recessive Robinow Syndrome |
|
Wide mouth, Pectus excavatum, Abnormality of the dentition, Short philtrum, Pectus carinatum, San... |
ORPHA:1507 |
| Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Scoliosis, Neuropathic spinal arthropathy, Decreased cervical spine mo... |
ORPHA:370968 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
| Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Myelomeningocele, Kyphosis, Clinodactyly of the 5th finger, Cleft palate, Trac... |
ORPHA:1393 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia, Arthrogryposis multiplex congenita |
OMIM:601809 |
| Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Abn... |
ORPHA:2635 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Hydrocephalus, Femoral bowing, Short 1st metacarpal, 11 pairs... |
OMIM:114290 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:125520 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Intention tremor, Ataxia, Action tremor |
OMIM:302500 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Thin vermilion border, Nonimmune hydrops fetalis, Cardiomyopathy, Abnormality of the amniotic fluid |
OMIM:608540 |
| Thanatophoric Dysplasia, Type Ii |
|
Metaphyseal irregularity, Small abnormally formed scapulae, Wide-cupped costochondral junctions, ... |
OMIM:187601 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... |
ORPHA:521406 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Delayed CNS myelination, Tremor, Spasticity, Seizure |
OMIM:300983 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, High palate, Cleft palate, Absent glenoid fossa, Hemivertebrae, Microdontia... |
OMIM:224690 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia |
OMIM:607458 |
| Nail-Patella Syndrome |
|
Cleft upper lip, Hypoplasia of first ribs, Clinodactyly of the 5th finger, Disproportionate promi... |
OMIM:161200 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
High palate, Ureteral stenosis, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Motor stereotypy, Delayed myelination, Seizure |
OMIM:613886 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Syndactyly, Neonatal death, Hypoplasia of the ulna, Respiratory failure |
OMIM:228940 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
| Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Gait disturbance, Tremor, Progressive spasticity |
OMIM:210000 |
| Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
| Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
| Bardet-Biedl Syndrome 7 |
|
Narrow mouth, 2-3 toe syndactyly, Postaxial polydactyly, Polydactyly, Clinodactyly |
OMIM:615984 |
| Lymphatic Malformation 12 |
|
Fetal pericardial effusion, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios, Lymphedema... |
OMIM:620014 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H... |
OMIM:618877 |
| Dysplastic Cortical Hyperostosis |
|
Polyhydramnios, Hydrops fetalis, Abnormality of limb bone morphology |
ORPHA:2204 |
| Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Hydronephrosis |
OMIM:617127 |
| Meacham Syndrome |
|
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Congenital diap... |
ORPHA:3097 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Rib fusion, Atrial septal defect, Congenital diaphragmatic hernia, Hand polydactyly, Craniosynost... |
ORPHA:261197 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Pulmonic stenosis, Restrictive cardiomyopathy, Hydrops fetalis, Ascites |
OMIM:619433 |
| Neu-Laxova Syndrome 2 |
|
Micrognathia, Short neck, Scoliosis, Polyhydramnios, Edema, Rocker bottom foot, Spina bifida, Int... |
OMIM:616038 |
| Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Hiatus hernia, Prominence of the premaxilla, Small h... |
ORPHA:50 |
| Castleman Disease |
|
Follicular hyperplasia, Mediastinal lymphadenopathy, Ureteral obstruction, Hematuria, Abnormality... |
ORPHA:160 |
| Caudal Duplication |
|
Myelomeningocele, Vertebral segmentation defect, Bifid sacrum, Omphalocele, Abnormal sacrum morph... |
ORPHA:1756 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... |
ORPHA:266 |
| Focal Dermal Hypoplasia |
|
Abnormal cardiac septum morphology, Telangiectasia of the skin, Ventricular septal defect, Hypopl... |
ORPHA:2092 |
| Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Ataxia, Inability to walk, Delayed myelination, Chorea, Involuntary movements, Seizure, Dystonia |
OMIM:617804 |
| Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia |
ORPHA:98763 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination |
OMIM:213200 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Infantile spasms, Spasticity |
OMIM:278780 |
| Caudal Regression Syndrome |
|
Anal atresia, Abnormal iliac wing morphology, Renal agenesis, Abnormality of the ureter, Ureteral... |
ORPHA:3027 |
| Achondrogenesis |
|
Thickened nuchal skin fold, Hydrops fetalis, Long philtrum, Polyhydramnios, Umbilical hernia |
ORPHA:932 |
| Iniencephaly |
|
Myelomeningocele, Hydrocephalus, Congenital diaphragmatic hernia, Holoprosencephaly, Anencephaly,... |
ORPHA:63259 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Abnormal lung lobation, Pulmonary hypoplasi... |
OMIM:263210 |
| Kyphomelic Dysplasia |
|
Narrow chest, Undulate ribs, Anterior rib cupping, Micromelia, Large hands, Missing ribs, Bowing ... |
ORPHA:1801 |
| Orofaciodigital Syndrome Iv |
|
High palate, Accessory oral frenulum, Pectus excavatum, Cleft palate, Postaxial polydactyly, Shor... |
OMIM:258860 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger |
ORPHA:1937 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal fingertip morphology, Ureteral obstruction, Urinary retention, Pneumonia, Gastrointestin... |
ORPHA:79404 |
| Orofaciodigital Syndrome Vi |
|
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... |
OMIM:277170 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:2790 |
| Constricting Bands, Congenital |
|
Abnormal rib cage morphology, Syndactyly, Scoliosis, Bladder exstrophy, Ectopia cordis, Facial cl... |
OMIM:217100 |
| Trisomy 13 |
|
Ectrodactyly, Atrial septal defect, High, narrow palate, Cleft palate, Abnormality of the dentiti... |
ORPHA:3378 |
| Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Congenital diaphragmatic hernia, Inguinal he... |
OMIM:601186 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Status epilepticus, Ataxia, Intention tremor, Hemiparesis, Tremor, Spasticity, Seizure, Focal-ons... |
OMIM:614307 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... |
ORPHA:90117 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Limb... |
ORPHA:71517 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Respiratory insufficiency, Neonatal death, Split hand, Respiratory failure |
OMIM:610127 |
| Meckel Syndrome, Type 3 |
|
Hydrocephalus, Cleft palate, Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly,... |
OMIM:607361 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Cleft palate, Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Ectrodactyly, Clinodactyly of the 5th finger, Cleft palate, Syndactyly, Polydactyly, Short 5th fi... |
ORPHA:397590 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Bilateral tonic-clon... |
OMIM:618093 |
| Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Short ribs, Metaphyseal widening, Prenatal maternal abnormalit... |
OMIM:187760 |
| Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Tracheoesophageal fistula, Pulmonary hypoplasia, Pneumonia... |
ORPHA:95430 |
| Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Tongue fasciculations, Respiratory failure, Tongue atrophy |
OMIM:613435 |
| Melnick-Needles Syndrome |
|
Narrow chest, Short distal phalanx of finger, Short clavicles, Pectus excavatum, Cone-shaped epip... |
OMIM:309350 |
| Null Syndrome |
|
Ataxia, Inability to walk, Demyelinating peripheral neuropathy, Progressive spastic quadriplegia,... |
ORPHA:280234 |
| Folinic Acid-Responsive Seizures |
|
Broad-based gait, Hypertonia, Ataxia, Status epilepticus, Delayed myelination, Clonic seizure, Ge... |
ORPHA:79097 |
| Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... |
OMIM:253000 |
| Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Prominent sternum, Platyspondyly, Carious teet... |
OMIM:253010 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... |
OMIM:616866 |
| Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve... |
ORPHA:2704 |
| Donnai-Barrow Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Umbilical hernia, Omphalocele |
ORPHA:2143 |
| Lopes-Maciel-Rodan Syndrome |
|
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... |
OMIM:617435 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Abnormal pyramidal sign, Tremor, Unsteady gait, Seizure, Incoordination |
OMIM:614947 |
| Developmental And Epileptic Encephalopathy 14 |
|
Status epilepticus, Delayed myelination, Spasticity, Clonus, Tetraplegia |
OMIM:614959 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... |
OMIM:604326 |
| White Forelock With Malformations |
|
Sprengel anomaly, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morphology, ... |
ORPHA:2475 |
| Gabriele-De Vries Syndrome |
|
Tremor, Dystonia, Delayed myelination, Waddling gait |
OMIM:617557 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Spasticity, Seizure, Oculomotor apraxia, Dystonia |
OMIM:612716 |
| 46,Xy Sex Reversal 4 |
|
High palate, Anal atresia, Cleft palate, Renal dysplasia, Ureteropelvic junction obstruction, Hyd... |
OMIM:154230 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
| Colorectal Cancer |
|
Renal cell carcinoma, Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
| Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Camptodactyly of finger, Bowing of th... |
OMIM:249710 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal malrotation, Pyloric stenosis, Hydronephrosis, Intestinal pseudo-obstruction, Congenit... |
OMIM:300048 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Ataxia, Focal impaired awareness seizure, Demyelinating motor neuropathy, Spastic paraparesis, In... |
OMIM:608804 |
| Dystonia 12 |
|
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia |
OMIM:128235 |
| Tonne-Kalscheuer Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Abnormal heart morphology |
OMIM:300978 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosis, Seizure, Dystonia |
OMIM:261640 |
| Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Urethritis, Lymphadenitis, Ureteral obstruction, Hematuria, Renal int... |
ORPHA:449395 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bifid uvula, Cleft palate, Death in infancy |
OMIM:258320 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Intestinal atresia, Leukodystrophy, Overlapping fingers, Inflammation of the large inte... |
OMIM:619708 |
| Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Ectopia cordis, Ventral hernia, Pulmonary hypoplasia, Transposit... |
OMIM:313850 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Cleft palate, Abnormality of the upper urinary tract, Abnormality of the urethra, Brachydactyly, ... |
ORPHA:2145 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... |
OMIM:617102 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Hypertonia, Onion bulb formation, Babinski sign, Tremor, Decreased number of peripheral myelinate... |
OMIM:609260 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:607688 |
| Developmental And Epileptic Encephalopathy 42 |
|
