| Ureter, Cancer Of |
|
Neoplasm of the ureter |
OMIM:191600 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination, Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressiv... |
ORPHA:401840 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Leukodystrophy, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait ... |
OMIM:614561 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
| Periventricular Nodular Heterotopia 8 |
|
Seizure, Delayed myelination, Attention deficit hyperactivity disorder, Spasticity |
OMIM:618185 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal he... |
DECIPHER:39 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... |
OMIM:113100 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis |
|
Inability to walk, Delayed myelination, Seizure, Status epilepticus, Tetraplegia |
OMIM:618331 |
| Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Broad thumb, Synostosis of carpal bones... |
ORPHA:957 |
| Congenital unilateral pulmonary hypoplasia |
|
Abnormality of the pulmonary artery, Anomalous pulmonary venous return, Aplasia/Hypoplasia of the... |
ORPHA:2258 |
| Mental Retardation, Autosomal Recessive 6 |
|
Dystonia, Tremor, Seizure, Myoclonus, Involuntary movements |
OMIM:611092 |
| Microphthalmia, Syndromic 12 |
|
Broad nasal tip, Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary... |
OMIM:615524 |
| Syndactyly Type 2 |
|
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... |
ORPHA:93403 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... |
ORPHA:2838 |
| Optic Atrophy 2 |
|
Dysdiadochokinesis, Tremor, Babinski sign |
OMIM:311050 |
| Idiopathic Bronchiectasis |
|
Respiratory tract infection, Halitosis, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infec... |
ORPHA:60033 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... |
OMIM:143400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Seizure, Cavitating leukodystrophy, Spastic tetraparesis, Ataxia |
OMIM:619061 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia |
OMIM:613227 |
| Mental Retardation, Autosomal Dominant 55, With Seizures |
|
Seizure, Tremor, Gait ataxia, Generalized myoclonic seizure |
OMIM:617831 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Tremor, Incoordination, Slurred speech, Spastic gait, Babinski sign |
OMIM:160120 |
| Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Seizure, Unsteady gait, Frequent falls |
OMIM:616921 |
| Gastric Cancer |
|
Stomach cancer, Increased level of L-fucose in urine |
OMIM:613659 |
| Developmental And Epileptic Encephalopathy 32 |
|
Seizure, Tremor, Myoclonus, Ataxia |
OMIM:616366 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Atonic seizure, Babinski sign, Dysmetria, Generalized myoclonic seizure |
OMIM:612437 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... |
ORPHA:617 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Difficulty walking, Abnormal myelination, Spastic gait, Lower limb spasticity, Limb tremor, Babin... |
ORPHA:401820 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Bilateral tonic-clonic seizure, Seizure, Focal sensory seizure, Focal sensory seizure wit... |
OMIM:615400 |
| Bronchopulmonary Dysplasia |
|
Pulmonary sequestration, Abnormal lung morphology, Wheezing, Abnormal respiratory system morpholo... |
ORPHA:70589 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Polydactyly, Lateral clavicle hook, Brachydactyly, Narrow chest |
OMIM:617405 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology |
OMIM:614100 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Ventricular septal defect, Anencephaly, Non-midline cleft lip, Aplasia/Hypoplasia o... |
ORPHA:2476 |
| Urofacial Syndrome 2 |
|
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... |
OMIM:615112 |
| Cutis Laxa-Marfanoid Syndrome |
|
Abnormal heart valve morphology, Emphysema, Flexion contracture, Congenital diaphragmatic hernia |
ORPHA:171719 |
| Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... |
OMIM:617805 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Upper limb phocomelia, Polydactyly, Abnormal thorax morphology, Syndactyly, Abnormal hip bone mor... |
ORPHA:294975 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... |
ORPHA:98769 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Bilateral tonic-clonic seizure, Tortico... |
OMIM:618425 |
| Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Bronchial wall ... |
OMIM:610921 |
| Epilepsy, Progressive Myoclonic 7 |
|
Seizure, Tremor, Myoclonus, Ataxia |
OMIM:616187 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Atlantoaxial instability, Spondylolysis, Os odontoideum, Lumbar hyperlordosis, Respiratory failur... |
OMIM:600561 |
| Primary Hyperoxaluria Type 2 |
|
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... |
ORPHA:93599 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor |
OMIM:608687 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Dystonia 3, Torsion, X-Linked |
|
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... |
OMIM:314250 |
| Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Radioulnar synostosis, Abnormality of the philtrum, Finger syndactyly, Pectus carinatum, Abnormal... |
ORPHA:3268 |
| Acalvaria |
|
Spina bifida, Postaxial hand polydactyly, Holoprosencephaly, Cleft palate, Hydrocephalus |
ORPHA:945 |
| Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia |
ORPHA:2140 |
| Isolated Klippel-Feil Syndrome |
|
Scoliosis, Spina bifida, Abnormality of the vertebral column, Ventricular septal defect, Webbed n... |
ORPHA:2345 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Short thorax, Situs inversus totalis, Rib fusion, Vertebral segmentation defect, Hemivertebrae, V... |
OMIM:613686 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Thoracic kyphosis, Large hands, Long toe, Cleft lip, Cleft palate |
OMIM:300263 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Leukodystrophy, Tremor, Ataxia, Spasticity |
OMIM:616494 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Spinal muscular atrophy, Proximal amyotrophy, Ventricular septal defect, Pr... |
OMIM:253300 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Seizure, Parkinsonism, Rigidity, Shuffli... |
OMIM:615528 |
| Femoral-Facial Syndrome |
|
Hip dysplasia, Long philtrum, Short femur, Maternal diabetes, Radioulnar synostosis, Sprengel ano... |
ORPHA:1988 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Tremor, Gait disturbance, Seizure, Dysmetria, Hyperactivity, Rigidity, General... |
OMIM:618090 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
| Nuchal Bleb, Familial |
|
Hydrops fetalis, Fetal cystic hygroma, Stillbirth |
OMIM:257350 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Difficulty walking, Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seiz... |
OMIM:614018 |
| Vesicoureteral Reflux 3 |
|
Vesicoureteral reflux, Hydronephrosis, Hydroureter |
OMIM:613674 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Renal agenesis, Ureteral dysgenesis, Anal atresia, Ureteral agenesis |
OMIM:274265 |
| Fryns Microphthalmia Syndrome |
|
Bilateral cleft lip and palate, Facial cleft, Neural tube defect |
OMIM:600776 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Respiratory insufficiency, Cerebral dysmyelination, Respiratory failure, Death in ... |
OMIM:611722 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Scoliosis, Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Respira... |
OMIM:614399 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Seizure, Status epilepticus, Spasticity |
OMIM:614307 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small thenar eminence, Long philtrum, Spina bifida, Small hypothenar eminence, Camptodactyly, Joi... |
OMIM:211960 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the upper urinary tract, Abnormality of the ureter |
ORPHA:3266 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis |
OMIM:618270 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Delayed myelination, Spastic diplegia, Seizure, Status epilepticus, Stereotypy |
OMIM:617830 |
| Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Tremor, Focal hemifacial clonic seizure, Focal-onset seizure, Seizure, Write... |
OMIM:608105 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Polyhydramnios, Macroglossia, Prominent sternum, Flexion contracture of finger, Open mouth, Overl... |
ORPHA:254528 |
| Achondrogenesis, Type Ii |
|
Polyhydramnios, Hydrops fetalis, Stillbirth, Broad long bones, Horizontal ribs, Hypoplastic iliac... |
OMIM:200610 |
| Syndactyly, Type Iv |
|
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... |
OMIM:186200 |
| Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Squared iliac bones, Hydrops fetalis, Advanced tarsal ossification, Stillbirth, S... |
OMIM:215045 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination, Lower limb spasticity, Progressive spastic paraplegia, Hand tremor |
ORPHA:401835 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Diaphanospondylodysostosis |
|
Short thorax, Enlarged thorax, Cleft palate, Myelomeningocele, Missing ribs, Narrow pelvis bone |
ORPHA:66637 |
| Synpolydactyly 1 |
|
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... |
OMIM:186000 |
| Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... |
ORPHA:1164 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Scoliosis, Camptodactyly of finger, Short thorax, Anomalous pulmonary venous return, Finger synda... |
ORPHA:2311 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Hip dysplasia, Abnormal anterior horn cell morphology, Rocker bottom foot, Scoliosis, Kyphosis, R... |
OMIM:611890 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Pulmonary hypoplasia, Abnormality of the diaphragm, Congenital diaphragmatic hernia,... |
OMIM:601163 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Leukodystrophy, Dystonia, Gait ataxia, Hypertonia, Abnormal pyramidal sign, Seizure, Dysmetria, I... |
OMIM:617964 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Bifid uvula, Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Metatropic Dysplasia |
|
Scoliosis, Platyspondyly, Anisospondyly, Long coccyx, Flared femoral metaphysis, Abnormal metaphy... |
OMIM:156530 |
| Basal Cell Nevus Syndrome |
|
Irregular ossification of hand bones, Scoliosis, Polydactyly, Abnormal sternum morphology, Mandib... |
OMIM:109400 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect |
OMIM:607941 |
| Tremor, Hereditary Essential, 6 |
|
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor |
OMIM:616736 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Ventricular septal defect, Holoprosencephaly, Foot oligodactyly, Bilateral cleft lip... |
OMIM:601357 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Leukodystrophy, Delayed myelination, Hypertonia, Ataxia, Clonus, Spasticity |
OMIM:616881 |
| Achondrogenesis, Type Ib |
|
Polyhydramnios, Hydrops fetalis, Stillbirth, Hypoplastic ilia, Umbilical hernia, Short ribs, Edem... |
OMIM:600972 |
| Thymic Aplasia With Fetal Death |
|
Pulmonary hypoplasia, Truncus arteriosus, Stillbirth |
OMIM:274210 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity |
OMIM:168100 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Seizure, Tremor, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:615127 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2487 |
| Neuronal Intestinal Pseudoobstruction |
|
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia |
ORPHA:99811 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Spastic paraplegia, Abnormal myelination, Babinski sign, Spasticity |
ORPHA:431329 |
| Hypophosphatasia |
|
Abnormality of the ribs, Emphysema, Bowing of the long bones, Abnormality of the dentition, Respi... |
ORPHA:436 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Bilateral cleft lip and palate, Non-midline cleft lip, Cleft palate, Facial cleft, ... |
ORPHA:1104 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Anal atresia, Hydronephrosis |
OMIM:235760 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Unsteady gait, Tremor, Ataxia |
OMIM:615945 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic ischia, Acetabular dysplasia, Fifth finger distal phalanx clinodactyly, Hydrocephalus... |
ORPHA:2839 |
| Alpha-1-Antitrypsin Deficiency |
|
Wheezing, Chronic pulmonary obstruction, Dyspnea, Panacinar emphysema, Chronic bronchitis |
OMIM:613490 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... |
ORPHA:464440 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Severe short stature, Intrauterine ... |
ORPHA:1797 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Polyhydramnios, Thoracic hypoplasia, Large placenta, Umbilical hernia, Coat hanger sign of ribs |
ORPHA:254534 |
| Dysmyelination With Jaundice |
|
Hydronephrosis, Hypoplasia of penis, Hydroureter |
OMIM:224250 |
| Cerebellar Ataxia And Albinism |
|
Head tremor, Ataxia |
OMIM:258300 |
| Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Finger syndactyly, Microretrognathia, Webbed neck, Pectus excavatum, Small hand, I... |
ORPHA:1786 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls |
ORPHA:494526 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... |
ORPHA:98807 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
| Sarcoidosis, Susceptibility To, 2 |
|
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... |
OMIM:612387 |
| Ulnar Hemimelia |
|
Radial club hand, Short forearm, Spinal dysraphism, Duplication of phalanx of 3rd finger, Aplasia... |
ORPHA:93320 |
| Dystonia 27 |
|
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia |
OMIM:616411 |
| Nemaline Myopathy 9 |
|
Scoliosis, High palate, Respiratory insufficiency, Cleft palate |
OMIM:615731 |
| Poland Syndrome |
|
Absence of pectoralis minor muscle, Hypoplasia of serratus anterior muscle, Hypoplasia of latissi... |
OMIM:173800 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Becker Nevus Syndrome |
|
Abnormality of tibia morphology, Pectus carinatum, Pectus excavatum, Upper limb asymmetry, Rib fu... |
ORPHA:64755 |
| Segawa Syndrome, Autosomal Recessive |
|
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... |
OMIM:605407 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease |
OMIM:610805 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia, Omphalocele, Congenital diaphragmatic hernia |
ORPHA:2141 |
| Spinocerebellar Ataxia 43 |
|
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity |
OMIM:617018 |
| Mosaic Trisomy 9 |
|
Polyhydramnios, Scoliosis, Hydrops fetalis, Patent ductus arteriosus, Hemivertebrae, Dextrocardia... |
ORPHA:99776 |
| Facial Clefting, Oblique, 1 |
|
Facial cleft, Cleft upper lip, Cleft palate |
OMIM:600251 |
| Developmental And Epileptic Encephalopathy 34 |
|
Inability to walk, Delayed CNS myelination, Focal-onset seizure, Abnormal pyramidal sign, Focal h... |
OMIM:616645 |
| Myoclonic-Atonic Epilepsy |
|
Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia, Spastic... |
ORPHA:401830 |
| Serkal Syndrome |
|
Pulmonic stenosis, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Ventricular septal defect |
ORPHA:139466 |
| Rudiger Syndrome |
|
Ureterovesical stenosis, Micropenis |
OMIM:268650 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Difficulty walking, Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign |
ORPHA:85292 |
| Pericardial And Diaphragmatic Defect |
|
Pulmonary sequestration, Partial diaphragmatic absence of pericardium, Atrial septal defect, Abno... |
ORPHA:2847 |
| Parkinsonism With Spasticity, X-Linked |
|
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity |
OMIM:300911 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Gastroesophageal reflux, Recurrent urinary tract infections, Vesicoureteral r... |
OMIM:191800 |
| Aicardi-Goutieres Syndrome 6 |
|
Leukodystrophy, Dystonia, Tremor, Loss of ability to walk, Rigidity |
OMIM:615010 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Spina bifida, Scapular winging, Toe syndactyly, Narrow chest, Abnormal f... |
ORPHA:1327 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign |
OMIM:300660 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Pierre-Robin sequence, Easily subluxated first metacarpophalangeal joints, Short distal phalanx o... |
OMIM:311895 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Upper limb undergrowth, Nonimmune hydrops fetalis |
OMIM:613124 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Gait ataxia, Truncal ataxia, Atonic seizure, Absence seizure with eyelid myoclonia, Chore... |
OMIM:618587 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Median cleft lip and palate, Gingival fibromatosis, Short nose, Dyspnea, Respiratory distress, Re... |
ORPHA:1832 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Anteverted nares, Short finger, Kyphosis, Respiratory insufficiency, Wide nasal br... |
OMIM:313420 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the mouth, Dyspnea, Abnormality of the philtrum, Respiratory distress, Abnormal fo... |
ORPHA:2759 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Babinski sign, Ataxia, Spasticity |
OMIM:611105 |
| Indomethacin Embryofetopathy |
|
Hydrops fetalis, Atrial septal defect, Oligohydramnios, Ventricular septal defect, Premature birt... |
ORPHA:1909 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria |
OMIM:617917 |
| Developmental And Epileptic Encephalopathy 91 |
|
Seizure, Unsteady gait, Delayed myelination, Spasticity |
OMIM:617711 |
| Nevus Comedonicus Syndrome |
|
Spina bifida, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida occulta |
ORPHA:64754 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Hemiparesis, Ataxia, Seizure |
OMIM:141500 |
| Orofaciodigital Syndrome Xviii |
|
Genu valgum, Short philtrum, Short middle phalanx of finger, Diastema, Preaxial polydactyly, Post... |
OMIM:617927 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Seizure, Myoclonus, Hyperactivit... |
OMIM:615924 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Seizure, Myoclonus, Babinski sign |
OMIM:615362 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... |
ORPHA:3269 |
| Otopalatodigital Syndrome Type 2 |
|
Tarsal synostosis, Narrow chest, Flared iliac wing, Hypoplastic frontal sinuses, Abnormality of t... |
ORPHA:90652 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Difficulty walking, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:613608 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity |
ORPHA:401901 |
| Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Sh... |
OMIM:609813 |
| Spinocerebellar Ataxia 23 |
|
Tremor, Gait ataxia, Limb ataxia, Dysmetria, Babinski sign, CNS demyelination |
OMIM:610245 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, Abnorma... |
ORPHA:2779 |
| Atelosteogenesis, Type Ii |
|
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Death in infancy, Respiratory insuffici... |
OMIM:256050 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication |
OMIM:610297 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... |
ORPHA:363710 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Congenital hip dislocation, Oligohydramnios, Hydroureter, Pectus excava... |
ORPHA:2970 |
| Vesicoureteral Reflux, X-Linked |
|
Vesicoureteral reflux |
OMIM:314550 |
| Vesicoureteral Reflux 1 |
|
Vesicoureteral reflux |
OMIM:193000 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Spastic paraplegia, Febrile seizure (within the age range of 3 months to 6 years), Tremor, Diffic... |
ORPHA:477673 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
|
Polyhydramnios, Joint hypermobility, Scoliosis, Craniosynostosis, Postaxial hand polydactyly, Atr... |
OMIM:213980 |
| Urofacial Syndrome 1 |
|
Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infections, Enuresis, ... |
OMIM:236730 |
| Acrofacial Dysostosis, Weyers Type |
|
Overlapping fingers, Postaxial hand polydactyly, Abnormality of the dentition, Hypodontia, Solita... |
ORPHA:952 |
| Vacterl Association With Hydrocephalus |
|
Radial club hand, Abnormality of the vertebral column, Stillbirth, Abnormal vertebral morphology,... |
OMIM:276950 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... |
ORPHA:79262 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks |
ORPHA:308 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Polyhydramnios, Absent glenoid fossa, Epiphyseal stippling, Narrow mouth, Narrow chest, Camptodac... |
ORPHA:96334 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Polyhydramnios, Oligohydramnios, Sandal gap, Abnormality of the ureter, Hypospadias, Aplasia/Hypo... |
ORPHA:1046 |
| Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hydrops fetalis, Ascites, Hypertrophic cardiomyopathy |
ORPHA:295 |
| Renal Hypoplasia |
|
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... |
ORPHA:93101 |
| Hinman Syndrome |
|
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... |
ORPHA:84085 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Pectus carinatum, Osteo... |
OMIM:609052 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the dentition, Abnormality of the metacarpal bones, Cleft palate, Glossoptosis, Ha... |
ORPHA:3104 |
| Hyperekplexia 4 |
|
Camptodactyly, Umbilical hernia, Respiratory failure, Kyphoscoliosis, High palate, Adducted thumb |
OMIM:618011 |
| Dystonia 23 |
|
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia |
OMIM:614860 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Delayed myelination, Difficulty walking, Seizure, Stereotypy, Spasticity |
OMIM:617393 |
| 46,Xx Sex Reversal 5 |
|
Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Hypoplastic left heart, Ventric... |
OMIM:618901 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Misalignment of the p... |
OMIM:265120 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... |
OMIM:260300 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Leukodystrophy, Dystonia, Choreoathetosis, Tremor, Ataxia, Seizure, Cerebral hypomyelination, Rig... |
OMIM:612438 |
| Multiple Synostoses Syndrome 3 |
|
Cutaneous syndactyly of toes, Humeroradial synostosis, Cubitus valgus, Broad thumb, Hallux varus,... |
OMIM:612961 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Polyhydramnios, Abnormality of long bone morphology, Narrow chest, Pol... |
ORPHA:1505 |
| Hardikar Syndrome |
|
Hydroureter, Recurrent urinary tract infections, Intestinal malrotation, Hepatomegaly, Vesicouret... |
OMIM:612726 |
| Triopia |
|
Polyhydramnios, Midline facial cleft, Median cleft lip, Cleft palate |
ORPHA:3374 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity |
OMIM:600116 |
| Camptosynpolydactyly, Complex |
|
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly |
OMIM:607539 |
| Sprengel Deformity |
|
Abnormal shoulder morphology, Abnormality of the shoulder girdle musculature, Shoulder muscle hyp... |
ORPHA:3181 |
| Acropectoral Syndrome |
|
Pectus carinatum, Pectus excavatum, Preaxial polydactyly, Partial duplication of thumb phalanx, T... |
OMIM:605967 |
| Congenital Lobar Emphysema |
|
Emphysema, Respiratory distress |
ORPHA:1928 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| Spinocerebellar Ataxia Type 38 |
|
Difficulty walking, Tremor, Gait ataxia |
ORPHA:423296 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Apraxia, Gait disturbance, Bilateral tonic-clonic seizure, Bradykinesia, Action tremor, Parkinson... |
OMIM:300423 |
| Fibrochondrogenesis 1 |
|
Hydrops fetalis, Narrow mouth, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, P... |
OMIM:228520 |
| Mosaic Trisomy 16 |
|
Meckel diverticulum, Maternal diabetes, Short forearm, Preeclampsia, Large placenta, Wide mouth, ... |
ORPHA:1708 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... |
ORPHA:101110 |
| Achondrogenesis Type 1A |
|
Polyhydramnios, Long philtrum, Thickened nuchal skin fold, Hydrops fetalis, Umbilical hernia, Mul... |
ORPHA:93299 |
| Achondrogenesis Type 1B |
|
Polyhydramnios, Long philtrum, Thickened nuchal skin fold, Hydrops fetalis, Umbilical hernia, Sho... |
ORPHA:93298 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... |
ORPHA:93109 |
| Acropectorovertebral Dysplasia |
|
Toe syndactyly, Spina bifida occulta at L5, Broad thumb, Finger syndactyly, Synostosis of carpal ... |
OMIM:102510 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Delayed myelination, Ataxia, Seizure, Hyperactivity, Spasticity |
OMIM:300983 |
| Schisis Association |
|
Spina bifida, Anencephaly, Unilateral cleft lip, Anal atresia, Premature birth, Cleft palate, Tra... |
ORPHA:63862 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Inability to walk, Tremor, Clumsiness, Difficulty walking, Atonic seizure, Eyelid myoclonus, Seiz... |
ORPHA:2590 |
| Fanconi Anemia, Complementation Group O |
|
Anal atresia, Hydronephrosis, Rectal atresia, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
| Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Hydrops fetalis, Hypoplastic pelvis, Hypoplastic scapulae, Bowing of the long bon... |
ORPHA:85166 |
| Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Abnormal tricuspid valve morphology, Diastomatomyelia, Intestinal malrot... |
ORPHA:1759 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... |
ORPHA:98762 |
| Leukodystrophy, Hypomyelinating, 9 |
|
Leukodystrophy, Abnormality of extrapyramidal motor function, Ataxia, Dysmetria, Intention tremor... |
OMIM:616140 |
| Infantile Sialic Acid Storage Disease |
|
Hydrops fetalis, Metaphyseal irregularity, Premature birth, Ascites, Gingival overgrowth, Cardiom... |
OMIM:269920 |
| Aicardi Syndrome |
|
Scoliosis, Hiatus hernia, Spina bifida, Prominence of the premaxilla, Rib fusion, Postnatal growt... |
OMIM:304050 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Narrow mouth, Abnormal heart morphology, 2-3 toe syndactyly, Cleft upper lip, Cleft palate, Short... |
OMIM:239800 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... |
OMIM:607688 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida, Preaxial hand polydactyly, Abnormal thumb morphology, Anomalous pulmonary venous re... |
ORPHA:1120 |
| Parkinson Disease 22, Autosomal Dominant |
|
Gait disturbance, Tremor, Resting tremor, Bradykinesia |
OMIM:616710 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Dystonia, Gait ataxia, Tremor, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... |
OMIM:607317 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Rib fusion, Severe short stature, Hemivertebrae, Vertebral fusion, Disproportionate sh... |
OMIM:277300 |
| Kbg Syndrome |
|
Long philtrum, Oligodontia, Thoracic kyphosis, Rib fusion, Radial deviation of finger, Clinodacty... |
OMIM:148050 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Unsteady gait, Tremor, Truncal ataxia, Dysmetria |
OMIM:616127 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydronephrosis, Hydroureter |
OMIM:618240 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, Finger syndactyly, Abnorm... |
ORPHA:2990 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormality of the pulmonary artery, Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventri... |
ORPHA:1166 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Streaky metaphyseal sclerosis, Genu valgum, Dislocated radial head, Broad distal phalanx of finge... |
OMIM:603546 |
| Asbestos Intoxication |
|
Clubbing of fingers, Wheezing, Exertional dyspnea, Ground-glass opacification, Late inspiratory c... |
ORPHA:2302 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Abnormality of the ribs, Nephronophthisis, Postaxial hand polydacty... |
ORPHA:474 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short hallux, Overlapping fingers, Pectus excavatum, Postaxial polydactyly, Adducted thumb, Short... |
OMIM:618167 |
| Developmental And Epileptic Encephalopathy 16 |
|
Dystonia, Delayed myelination, Abnormality of extrapyramidal motor function, Hemiparesis, Status ... |
OMIM:615338 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Pulmonary hypoplasia, Hypertrophic cardiomyopathy |
OMIM:614096 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Seizure, Myoclonus, Intention tremor, Rigidity |
OMIM:618876 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Tremor, Myoclonic absence seizure, Ataxia, Bilateral tonic-clonic seizure, Bradykinesia... |
OMIM:617836 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect |
OMIM:122850 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overlapping fingers, Long philtrum, Hydrops fetalis, Narrow palate, Broad ribs, Oligohydramnios, ... |
OMIM:617022 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Abnormality of the dentition, Adducted thumb, Abnormality of the humerus... |
ORPHA:1794 |
| Axial Mesodermal Dysplasia Spectrum |
|
Anorectal anomaly, Morphological abnormality of the gastrointestinal tract, Oligohydramnios, Gast... |
ORPHA:1834 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Seizure, Tremor, Stereotypy, Ataxia |
OMIM:617862 |
| Corticobasal Syndrome |
|
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... |
ORPHA:454887 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Tremor, Incoordination, Atonic sei... |
ORPHA:36387 |
| 46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Hydroureter, Intestinal malrotation, Multicystic kidney dysplasia, Anal... |
ORPHA:2973 |
| Disorganization, Mouse, Homolog Of |
|
Limb duplication, Hand polydactyly, Cleft upper lip, Cleft palate, Hip dislocation |
OMIM:223200 |
| Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
| Lethal Congenital Contracture Syndrome 1 |
|
Arthrogryposis multiplex congenita, Neonatal death, Hypoplasia of the musculature, Pulmonary hypo... |
OMIM:253310 |
| Kagami-Ogata Syndrome |
|
Pursed lips, Polyhydramnios, Thoracic hypoplasia, Large placenta, Bell-shaped thorax, Coat hanger... |
ORPHA:254519 |
| Loeys-Dietz Syndrome 4 |
|
Scoliosis, Protrusio acetabuli, Emphysema, Spondylolisthesis, Dural ectasia, Broad uvula, Bifid u... |
OMIM:614816 |
| Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
| Polydactyly, Postaxial, Type A1 |
|
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb |
OMIM:174200 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... |
OMIM:611302 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Wormian bones, Hydrops fetalis, Short femur, Ventricular septal defect, Pleural e... |
OMIM:616897 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Polyhydramnios, Lateral clavicle hook, Narrow chest, Horizontal ribs, Postaxial polydactyly, Bell... |
OMIM:615633 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity |
OMIM:615768 |
| Boomerang Dysplasia |
|
Polyhydramnios, Abnormality of tibia morphology, Hydrops fetalis, Abnormality of femur morphology... |
ORPHA:1263 |
| Cerebrofaciothoracic Dysplasia |
|
Polyhydramnios, Scoliosis, Narrow chest, Sprengel anomaly, Rib fusion, Hemivertebrae, Short statu... |
ORPHA:1394 |
| Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta |
|
Multifocal seizures, Delayed myelination, Ataxia, Status epilepticus, Involuntary movements, Spas... |
OMIM:615905 |
| Aplasia Cutis Congenita |
|
Spinal dysraphism, Toe syndactyly, Finger syndactyly |
ORPHA:1114 |
| Fountain Syndrome |
|
Scoliosis, Spina bifida, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Pectus... |
ORPHA:3219 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... |
OMIM:610913 |
| Spinocerebellar Ataxia 40 |
|
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... |
OMIM:616053 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... |
ORPHA:314632 |
| Santos Syndrome |
|
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... |
OMIM:613005 |
| Fibular Hemimelia |
|
Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralgia of the hip, Ect... |
ORPHA:93323 |
| Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Anal atresia, Hydronephrosis, Abnormal localization of kidney |
ORPHA:195 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hydrops fetalis, Agenesis of permanent teeth, Polydactyly, Hypoplastic scapulae, Bowing of the lo... |
OMIM:614091 |
| Heart-Hand Syndrome Type 2 |
|
Abnormal clavicle morphology, Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormal palat... |
ORPHA:1350 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Tremor, Seizure, Lower limb spasticity, Spastic gait, Babinski sign, Clonus |
OMIM:600363 |
| Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Increased connective tissue, Muscular dystrophy,... |
OMIM:255320 |
| Dystonia 16 |
|
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Unsteady gait, Torticollis, Parkinsonism,... |
ORPHA:210571 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate |
OMIM:172880 |
| Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory failure, Respiratory insufficiency |
OMIM:208081 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Preaxial hand polydactyly, Posterior rib fusion, Atrial septal defect, Ventricular septal defect,... |
OMIM:608406 |
| Atypical Juvenile Parkinsonism |
|
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... |
ORPHA:391411 |
| Fibrodysplasia Ossificans Progressiva |
|
Short hallux, Scoliosis, Small cervical vertebral bodies, Short 1st metacarpal, Respiratory insuf... |
OMIM:135100 |
| Lichtenstein-Knorr Syndrome |
|
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria |
OMIM:616291 |
| Parkinson Disease 17 |
|
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity |
OMIM:614203 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Gait ataxia, Action tremor, Decreased number of peripheral myelinated nerve fibers, Onion bulb fo... |
OMIM:180800 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hydrops fetalis, Endocardial fibroelastosis, Aplasia of the ulna, Neonatal death, Hand oligodactyly |
OMIM:276822 |
| Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... |
OMIM:613496 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Overlapping fingers, Scoliosis, Congenital hip dislocation, Kyphosis, Respiratory insufficiency d... |
OMIM:618291 |
| Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Multiple renal cysts, Gastrointestinal hemorrhage, Gastrointestinal infar... |
ORPHA:2869 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Stomatitis |
OMIM:618307 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Focal-onset seizure, Hand tremor, Myoclonus, Generalized-onset seizure |
ORPHA:86814 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thoracic hypoplasia, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Thin upper lip verm... |
OMIM:617866 |
| Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicouret... |
ORPHA:107 |
| Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
| Nephrolithiasis, Calcium Oxalate |
|
Ureteropelvic junction obstruction, Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperox... |
OMIM:167030 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Pulmonary hypop... |
OMIM:616867 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Scoliosis, Bifid distal phalanx of toe, Hypoplastic sacrum, Broad thumb, Short digit, Short neck,... |
OMIM:268310 |
| Czeizel-Losonci Syndrome |
|
Thickened nuchal skin fold, 2-3 finger syndactyly, Spina bifida, Myelomeningocele, 1-2 finger syn... |
ORPHA:2437 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Respiratory failure |
OMIM:301021 |
| Pontocerebellar Hypoplasia, Type 2D |
|
Delayed myelination, Chorea, Seizure, Spastic tetraplegia, Clonus |
OMIM:613811 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... |
ORPHA:314978 |
| Spinocerebellar Ataxia Type 40 |
|
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... |
ORPHA:423275 |
| Spinocerebellar Ataxia Type 35 |
|
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... |
ORPHA:276193 |
| Occipital Horn Syndrome |
|
Genu valgum, Hiatus hernia, Ureteral obstruction, Broad ribs, Narrow chest, Pectus carinatum, Pec... |
OMIM:304150 |
| Primary Pulmonary Hypoplasia |
|
Abnormal pulmonary artery morphology, Pneumothorax, Pulmonary hypoplasia, Patellar hypoplasia, Ur... |
ORPHA:2257 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Tremor, Hypertonia, Seizure, Myoclonus, Choreoathetosis |
OMIM:261630 |
| Dystonia, Dopa-Responsive |
|
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... |
OMIM:128230 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Br... |
OMIM:270500 |
| Bare Lymphocyte Syndrome, Type I |
|
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis, Chronic sinusitis |
OMIM:604571 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Dystonia, Tremor, Difficulty walking, Focal-onset seizure, Bilateral tonic-clo... |
ORPHA:330050 |
| Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Rocker bottom foot, Thin vermilion border, Shoulder flexion contracture, Camptodacty... |
OMIM:619110 |
| Isolated Hemihyperplasia |
|
Myelomeningocele, Asymmetry of the thorax, Abnormality of the dentition |
ORPHA:2128 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Short nose, Pectus excavatum, Hypoplasia of the ulna, Hypercalciuria, Renal cyst, Ureteral stenos... |
OMIM:615398 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
| Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Tremor, Myoclonus |
OMIM:159900 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... |
ORPHA:306692 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion, Hemivertebrae, Disproportionate short-trunk short stature, Short neck, Vertebral segm... |
OMIM:608681 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Split hand, Cutaneous finger syndactyly, Split foot, Spina bifida occulta, Myelomeningocele, Hydr... |
OMIM:183802 |
| Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus |
OMIM:612016 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Hypermanganesemia With Dystonia 2 |
|
Dystonia, Tremor, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... |
OMIM:617013 |
| Oculocerebrocutaneous Syndrome |
|
Hand polydactyly, Congenital hip dislocation, Finger syndactyly, Wide mouth, Short distal phalanx... |
ORPHA:1647 |
| Meckel Syndrome, Type 1 |
|
Postaxial hand polydactyly, Oligohydramnios, Natal tooth, Intestinal malrotation, Wide mouth, Ane... |
OMIM:249000 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Arthrogryposis multiplex congenita, Scapular winging, Camptodactyly, Flexion contracture, Distal ... |
OMIM:617468 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Scoliosis, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bodies, Congenital ... |
OMIM:265000 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Seizure, Leukodystrophy, Delayed myelination, Spasticity |
OMIM:617613 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Bilateral lung agenesis, Pulmonary hypoplasia, Pulmonary artery stenos... |
OMIM:611812 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... |
OMIM:618773 |
| Meier-Gorlin Syndrome 6 |
|
Hip dysplasia, Delayed myelination, Short nose, Underdeveloped nasal alae, Short middle phalanx o... |
OMIM:616835 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Hydrops fetalis, Abnormal tricuspid valve morphology, Ventricular septal defect, ... |
ORPHA:3405 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Desmoid tumors, Hydronephrosis, Intestinal polyposis, Abnormality of... |
ORPHA:873 |
| Cloacal Exstrophy |
|
Horseshoe kidney, Hydroureter, Intestinal malrotation, Intestinal duplication, Ureteropelvic junc... |
ORPHA:93929 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tremor, Difficulty walking, Seizure, Tongue fasciculations, Myoclonus, Fasciculations, Frequent f... |
OMIM:159950 |
| Developmental And Epileptic Encephalopathy 54 |
|
Seizure, Delayed myelination |
OMIM:617391 |
| Autosomal Spastic Paraplegia Type 58 |
|
Tremor, Gait ataxia, Erratic myoclonus, Spastic ataxia, Chorea, Abnormal pyramidal sign, Intentio... |
ORPHA:397946 |
| Aphalangy With Hemivertebrae |
|
Pulmonary hypoplasia, Ventricular septal defect |
OMIM:207620 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:601068 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... |
ORPHA:251282 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Lower limb spasticity, Dysmetria,... |
OMIM:616948 |
| Cerebrocostomandibular Syndrome |
|
Spina bifida, Posterior rib gap, Kyphosis, Death in infancy, Tracheomalacia, Meningocele, Cleft p... |
ORPHA:1393 |
| Hb Bart'S Hydrops Fetalis |
|
Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios, Preeclampsia, Hydrocephalus |
ORPHA:163596 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Tremor, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Impaired tandem gait, Lowe... |
OMIM:619028 |
| Donnai-Barrow Syndrome |
|
Short nose, Ventricular septal defect, Omphalocele, Umbilical hernia, Congenital diaphragmatic he... |
ORPHA:2143 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Clubbing of fingers, Hydrops fetalis, Narrow mouth, Increased placental thickness, Abnormal heart... |
ORPHA:1865 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Tremor, Oculomotor apraxia, Ataxia, Seizure, Hyperactivity, Choreoathetosis, Spasticity |
OMIM:612716 |
| Prune Belly Syndrome |
|
Hydroureter, Urethral valve, Xerostomia, Anal atresia, Hydronephrosis, Congenital posterior ureth... |
OMIM:100100 |
| Fanconi Renotubular Syndrome 5 |
|
Genu valgum, Pulmonary fibrosis, Emphysema, Decreased DLCO, Lung adenocarcinoma |
OMIM:618913 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Scoliosis, Short neck, Abnormal palate morphology, Kyphosis, Increased laxity of fingers, Spinal ... |
ORPHA:75840 |
| Gordon Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Pectus excavatum, Cleft palate, High palate, Clinodac... |
ORPHA:376 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Long philtrum, Broad thumb, Short nose, Dental crowding, Abnormality of the dentition, Umbilical ... |
OMIM:616331 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Apraxia, Tremor, Ataxia, Spasticity |
OMIM:615889 |
| Spondylocostal Dysostosis 5 |
|
Scoliosis, Posterior rib fusion, Short neck, Pectus carinatum, Low back pain, Severe short statur... |
OMIM:122600 |
| Spinal Muscular Atrophy, Jokela Type |
|
Difficulty walking, Fasciculations, Tremor |
OMIM:615048 |
| Cerebrooculonasal Syndrome |
|
Long philtrum, Postaxial hand polydactyly, Solitary median maxillary central incisor, U-Shaped up... |
ORPHA:66625 |
| Mulibrey Nanism |
|
Enamel hypoplasia, Hydrops fetalis, Myocardial fibrosis, Dental crowding, Hypodontia, Microglossi... |
OMIM:253250 |
| Primary Dystonia, Dyt2 Type |
|
Torsion dystonia, Tremor, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... |
ORPHA:99657 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Overlapping fingers, Hydrops fetalis, Radioulnar synostosis, Cleft palate, Short middle phalanx o... |
OMIM:616738 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Seizure, Delayed myelination, Stereotypy |
OMIM:613886 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Cleft palate, Cleft upper lip, Short foot, High, narrow pal... |
OMIM:607597 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Inability to walk, Dystonia, Delayed myelination, Ataxia, Seizure, Lower limb spasticity, Waddlin... |
OMIM:616756 |
| Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ... |
OMIM:183600 |
| Developmental And Epileptic Encephalopathy 17 |
|
Generalized tonic seizure, Dystonia, Delayed myelination, Chorea, Athetosis |
OMIM:615473 |
| Meckel Syndrome, Type 2 |
|
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Anencephaly, Meningocele, Clef... |
OMIM:603194 |
| Trisomy 1Q |
|
Polyhydramnios, Camptodactyly of finger, Hydrops fetalis, Preaxial hand polydactyly, Narrow mouth... |
ORPHA:261344 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Pulmonary hypoplasia |
OMIM:615228 |
| Spondylospinal Thoracic Dysostosis |
|
Arthrogryposis multiplex congenita, Pulmonary hypoplasia |
OMIM:601809 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Pyloric stenosis, Vesicoureteral reflux, Nephrolithiasis, Hydroureter |
OMIM:617219 |
| Zimmermann-Laband Syndrome 3 |
|
Triphalangeal thumb, Absent distal phalanx of the 2nd toe, Kyphosis, Aplasia of the distal phalan... |
OMIM:618658 |
| X-Linked Intellectual Disability, Schimke Type |
|
High palate, Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
| Craniorachischisis |
|
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Anal atresia, Bifid sternum, ... |
ORPHA:63260 |
| Metatropic Dysplasia |
|
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Abno... |
ORPHA:2635 |
| Bladder Exstrophy |
|
Recurrent urinary tract infections, Intestinal malrotation, Abnormality of the ureter, Vesicouret... |
ORPHA:93930 |
| Tonne-Kalscheuer Syndrome |
|
Abnormal heart morphology, Wide nasal bridge, Pulmonary hypoplasia, Congenital diaphragmatic hern... |
OMIM:300978 |
| Acrocapitofemoral Dysplasia |
|
Narrow chest, Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st... |
OMIM:607778 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Pulmonary hypoplasia, Abnormal lung lobation |
ORPHA:2631 |
| Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614429 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
| Au-Kline Syndrome |
|
Hip dysplasia, Thickened nuchal skin fold, Oligodontia, Deep palmar crease, Downturned corners of... |
OMIM:616580 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Hydroureter, Recurrent urinary tract infections, Pneumonia, Duplicated collecting system, Abnorma... |
ORPHA:79404 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Scoliosis, Respiratory insufficiency, Abnormality of the tongue muscle, Decreased cervical spine ... |
ORPHA:370968 |
| Autosomal Dominant Cutis Laxa |
|
Emphysema, Bowel diverticulosis, Umbilical hernia |
ORPHA:90348 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... |
ORPHA:216873 |
| Behr Syndrome |
|
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity |
OMIM:210000 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Intestinal malrotation, Fetal megacystis, Hydroureter |
OMIM:249210 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Thin vermilion border, Cardiomyopathy, Nonimmune hydrops fetalis, Abnormality of the amniotic fluid |
OMIM:608540 |
| Chromosome 15Q25 Deletion Syndrome |
|
Dextrocardia, Abnormal cardiac septum morphology, Inguinal hernia, Congenital diaphragmatic hernia |
OMIM:614294 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... |
OMIM:607346 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Inability to walk, Dystonia, Gait ataxia, Truncal ataxia, Delayed CNS myelination, Choreoathetosi... |
OMIM:618877 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Underdeveloped nasal alae, Abnormal heart morphology, Flexion contracture, Omphalocele, Pulmonary... |
OMIM:263210 |
| Sonoda Syndrome |
|
Depressed nasal bridge, Ventricular septal defect |
OMIM:270460 |
| Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria |
OMIM:607458 |
| Humero-Radial Synostosis |
|
Tarsal synostosis, Elbow dislocation, Elbow ankylosis, Meningocele, Aplasia/Hypoplasia of the thu... |
ORPHA:3265 |
| Achondrogenesis, Type Ia |
|
Polyhydramnios, Hypoplasia of the radius, Hydrops fetalis, Stillbirth, Beaded ribs, Hypoplastic s... |
OMIM:200600 |
| Thanatophoric Dysplasia, Type Ii |
|
Platyspondyly, Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Wide-cupp... |
OMIM:187601 |
| Meacham Syndrome |
|
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Atrial septal... |
ORPHA:3097 |
| Greig Cephalopolysyndactyly Syndrome |
|
Wide nasal bridge, Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:380 |
| Birt-Hogg-Dubé Syndrome |
|
Pulmonary sequestration, Emphysema, Pneumothorax |
ORPHA:122 |
| Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary hypoplasia, Tracheomalacia, Laryngomalacia |
OMIM:245650 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Hypoplasia of the ulna, Respiratory insufficiency, Neonatal death, Syndactyly, Respiratory failure |
OMIM:228940 |
| Achondrogenesis |
|
Polyhydramnios, Long philtrum, Thickened nuchal skin fold, Hydrops fetalis, Umbilical hernia |
ORPHA:932 |
| Dysplastic Cortical Hyperostosis |
|
Polyhydramnios, Hydrops fetalis, Abnormality of limb bone morphology |
ORPHA:2204 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Edema of the dorsum of ... |
OMIM:274000 |
| Orofaciodigital Syndrome Xv |
|
Hydronephrosis, Lobulated tongue |
OMIM:617127 |
| Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Truncus arteriosus, Single ventricle, Ventricular septal defect, Diaphragma... |
OMIM:601186 |
| Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Dystonia, Tremor, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... |
ORPHA:521406 |
| Developmental And Epileptic Encephalopathy 14 |
|
Delayed myelination, Status epilepticus, Tetraplegia, Clonus, Spasticity |
OMIM:614959 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... |
OMIM:174700 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Action tremor, Ataxia, Intention tremor |
OMIM:302500 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Bowing of the long bones... |
ORPHA:1801 |
| Bardet-Biedl Syndrome 5 |
|
Polydactyly, Syndactyly, Brachydactyly |
OMIM:615983 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Rigidity |
ORPHA:98763 |
| Bardet-Biedl Syndrome 7 |
|
Polydactyly |
OMIM:615984 |
| Diastrophic Dysplasia |
|
Costal cartilage calcification, Hitchhiker thumb, Short finger, Irregular epiphyses, Spinal cord ... |
OMIM:222600 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity |
OMIM:213200 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Hydrops fetalis, Atrial septal defect, Preaxial polydactyly, Postaxial polydactyl... |
OMIM:616546 |
| Caudal Duplication |
|
Spina bifida, Spinal cord lesion, Omphalocele, Vertebral segmentation defect, Myelomeningocele, B... |
ORPHA:1756 |
| Spinocerebellar Ataxia Type 28 |
|
Kinetic tremor, Dystonia, Gait ataxia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... |
ORPHA:101109 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Leukodystrophy, Dystonia, Choreoathetosis, Spastic paraparesis, Head titubation, Ataxia, Seizure,... |
OMIM:608804 |
| Nail-Patella Syndrome |
|
Limited elbow extension, Spina bifida, Triceps aplasia, Biceps aplasia, Hypoplastic radial head, ... |
OMIM:161200 |
| Schneckenbecken Dysplasia |
|
Polyhydramnios, Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Metaph... |
OMIM:269250 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Spastic paraplegia, Postural tremor, Gait disturbance, Bilateral tonic-clonic seizure, Lower limb... |
ORPHA:100988 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplastic pubic bones, Narrow palate, Split hand, Phocomelia, High palate, Elbow flexion contractu... |
OMIM:276820 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia... |
OMIM:300894 |
| Fetal Minoxidil Syndrome |
|
Depressed nasal bridge, Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
| Trisomy 13 |
|
Long philtrum, Hydrops fetalis, Postaxial hand polydactyly, Atrial septal defect, Ventricular sep... |
ORPHA:3378 |
| Iniencephaly |
|
Polyhydramnios, Rocker bottom foot, Spina bifida, Arthrogryposis multiplex congenita, Hyperlordos... |
ORPHA:63259 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respiratory failure, Aspirati... |
ORPHA:90117 |
| Teebi-Shaltout Syndrome |
|
Rocker bottom foot, Horseshoe kidney, Broad nasal tip, Underdeveloped nasal alae, Pectus carinatu... |
OMIM:272950 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Tremor, Ataxia, Seizure, Dysmetria, Babinski sign, Tongue fasciculations |
OMIM:618170 |
| Hydrolethalus Syndrome 2 |
|
Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Cleft palate, Hydrocephalus |
OMIM:614120 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Oligohydramnios, Polydactyly, Syndactyly, Cleft palate, Small placenta, Clinodactyly of the 5th f... |
ORPHA:397590 |
| Focal Dermal Hypoplasia |
|
Scoliosis, Abnormal dental enamel morphology, Thin skin, Split hand, Patent ductus arteriosus, Om... |
ORPHA:2092 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Mandi... |
ORPHA:2790 |
| Limb Body Wall Complex |
|
Short umbilical cord, Abnormal thorax morphology, Anencephaly, Aplasia/Hypoplasia involving bones... |
ORPHA:2369 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Hydroureter, Short distal phalanx of finger, Micropenis, Hypopla... |
OMIM:269150 |
| Null Syndrome |
|
Inability to walk, Difficulty walking, Progressive spastic quadriplegia, Demyelinating peripheral... |
ORPHA:280234 |
| Triploidy |
|
Polyhydramnios, Macroglossia, Narrow chest, Finger syndactyly, Micrognathia, Holoprosencephaly, O... |
ORPHA:3376 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Scoliosis, Craniosynostosis, Hand polydactyly, Atrial septal defect, Abnormal vertebral morpholog... |
ORPHA:261197 |
| Aicardi Syndrome |
|
Hip dysplasia, Hiatus hernia, Scoliosis, Prominence of the premaxilla, Rib fusion, Small hand, De... |
ORPHA:50 |
| Colorectal Cancer |
|
Renal cell carcinoma, Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma |
OMIM:114500 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, Respiratory insuffi... |
ORPHA:266 |
| Frontal Encephalocele |
|
Spina bifida, Hydrocephalus |
ORPHA:1931 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis, Cleft palate |
OMIM:618265 |
| Orofaciodigital Syndrome Iv |
|
Hand polydactyly, Toe syndactyly, Tongue nodules, Short finger, Pectus excavatum, Hamartoma of to... |
OMIM:258860 |
| Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Inability to walk, Dystonia, Delayed myelination, Chorea, Ataxia, Seizure, Involuntary movements |
OMIM:617804 |
| Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
| Igg4-Related Kidney Disease |
|
Pleuritis, Hematuria, Acute kidney injury, Interstitial pneumonitis, Urinary bladder inflammation... |
ORPHA:449395 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Genu valgum, Umbilical hernia, Sandal gap, Abnormality of the ureter, High palate, Arachnodactyly... |
ORPHA:1035 |
| Cardiospondylocarpofacial Syndrome |
|
Scoliosis, Tarsal synostosis, Joint laxity, Cone-shaped epiphysis, Synostosis of carpals/tarsals,... |
OMIM:157800 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Seizure, Babi... |
ORPHA:363654 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the ribs, Short nose, Oligohydramnios, Finger syndactyly, Split hand, Aplasia/Hypo... |
ORPHA:2145 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Melnick-Needles Syndrome |
|
Genu valgum, Stillbirth, Narrow chest, Hypoplastic scapulae, Pectus excavatum, Recurrent respirat... |
OMIM:309350 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal malrotation, Intestinal pseudo-obstruction, Hydronephrosis, Congenital shortened small... |
OMIM:300048 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Death in infancy, Hydrocephalus, Cleft palate |
OMIM:258320 |
| Meier-Gorlin Syndrome 4 |
|
Narrow mouth, Emphysema, Slender long bone, Patellar aplasia, Thick lower lip vermilion |
OMIM:613804 |
| Frontometaphyseal Dysplasia |
|
Broad thumb, Short metatarsal, Short phalanx of finger, Short distal phalanx of finger, Metacarpo... |
ORPHA:1826 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, Narrow chest, Wide nasal bridge, Hypospadias, Ectopic anus, Cleft palate... |
ORPHA:1703 |
| Thoracolaryngopelvic Dysplasia |
|
Prenatal maternal abnormality, Hypoplastic pelvis, Hypoplastic iliac wing, Horizontal ribs, Bell-... |
OMIM:187760 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Choreoathetosis, Tremor, Hypertonia, Ataxia, Bradykinesia, Seizure, Parkinsonism, Rigidity |
OMIM:261640 |
| Spinocerebellar Ataxia 48 |
|
Dystonia, Gait ataxia, Tremor, Chorea, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Dysm... |
OMIM:618093 |
| Temple Syndrome |
|
Scoliosis, Short philtrum, Short foot, Clinodactyly, Small hand, Cleft palate, Bifid uvula, High ... |
OMIM:616222 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Vitamin K Antagonist Embryofetopathy |
|
Macroglossia, Epiphyseal stippling, Short neck, Short nose, Punctate vertebral calcifications, Ch... |
ORPHA:1914 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Apnea, Central sleep apnea, Split hand, Wide nasal bridge, Diffuse demyelination of the cerebral ... |
ORPHA:168486 |
| White Forelock With Malformations |
|
Finger syndactyly, Abnormal palate morphology, Deep philtrum, Sprengel anomaly, Spina bifida occu... |
ORPHA:2475 |
| Thoracoabdominal Syndrome |
|
Omphalocele, Ectopia cordis, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Ventral herni... |
OMIM:313850 |
| Infantile Convulsions And Choreoathetosis |
|
Dystonia, Choreoathetosis, Experiential epileptic aura, Focal-onset seizure, Chorea, Paroxysmal d... |
ORPHA:31709 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Long philtrum, Delayed myelination, Drooling, Broad thumb, Smooth philtrum, Abnormality of the de... |
ORPHA:576283 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormality of the ribs |
ORPHA:100073 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Hydroureter |
OMIM:598500 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Seizure, Tremor, Ataxia |
OMIM:618951 |
| Ochoa Syndrome |
|
Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral re... |
ORPHA:2704 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Umbilical hernia, Congenital diaphragmatic he... |
ORPHA:1488 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Hypertonia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation,... |
OMIM:609260 |
| Mullegama-Klein-Martinez Syndrome |
|
Bulbous nose, Wide nasal bridge, Prominent nose, Hypoplastic left heart, Congenital diaphragmatic... |
OMIM:301022 |
| Autosomal Recessive Robinow Syndrome |
|
Open bite, Broad thumb, Downturned corners of mouth, Elbow dislocation, Split hand, Broad hallux ... |
ORPHA:1507 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect |
OMIM:615297 |
| Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Seizure, Unsteady gait, Gait ataxia, Delayed myelination |
OMIM:618158 |
| Renal Dysplasia-Limb Defects Syndrome |
|
Thin vermilion border, Hypoplasia of the radius, Short neck, Narrow mouth, Respiratory distress, ... |
OMIM:266910 |
| Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Pa... |
OMIM:604326 |
| Castleman Disease |
|
Ureteral obstruction, Hematuria, Anasarca, Abnormality of the gastrointestinal tract, Generalized... |
ORPHA:160 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Gait ataxia, Resting tremor, Bradykinesia, Craniofacial dystonia, Seizure, Torticollis, Parkinson... |
ORPHA:71517 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Respiratory failure, Respiratory insufficiency, Wide nasal bridge |
OMIM:610127 |
| Otopalatodigital Syndrome, Type Ii |
|
