Charcot-Marie-Tooth Disease Type 2B1 |
|
Inability to walk, Axonal degeneration, Proximal muscle weakness in lower limbs, Toe extensor amy... |
ORPHA:98856 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Axonal degeneration, Babinski sign, Tremor, Difficulty walking, Distal lower limb am... |
OMIM:302800 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Respiratory insufficiency due to muscle weakness, Gowers sign, Degeneration of anterior horn cell... |
OMIM:159950 |
Spinal Muscular Atrophy, Type Iii |
|
Loss of ambulation, Hand tremor, Pelvic girdle amyotrophy, Degeneration of anterior horn cells, P... |
OMIM:253400 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Frontal cortical atrophy, Brain atrophy, Shoulder girdle muscle atrophy, Limb muscle weakness, Lo... |
OMIM:167320 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... |
ORPHA:860 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Tip-toe gait, Axonal degeneration, Distal muscle weakness, Decreased motor nerve conduction veloc... |
OMIM:614436 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Distal muscle ... |
OMIM:601596 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inver... |
OMIM:618300 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Babinski sign, Optic atrophy, Cogwheel rigidity, Spasticity, Spastic tetraparesis, Hypert... |
ORPHA:225154 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Amyotrophic lateral sclerosis, Ataxia, Hand muscle atrophy, Babinski sign, Spasticity of facial m... |
OMIM:205100 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gliosis, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory im... |
OMIM:604484 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Brain atrophy, Abnormal motor neuron morphology, Increased variabi... |
ORPHA:52430 |
Pseudoxanthoma Elasticum |
|
High palate, Angina pectoris, Telangiectasia of the skin, Excessive wrinkled skin, Sudden cardiac... |
ORPHA:758 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Megakaryocytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Retinal coloboma, Macular coloboma, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... |
OMIM:606217 |
Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... |
OMIM:619702 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... |
OMIM:231060 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Tracheoesophageal fistula, Ventricular septal defect, Pulm... |
ORPHA:95430 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Inability to walk by childhood/adolescence, Kyphoscoliosis, Decreased sensory nerve conduction ve... |
OMIM:214400 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Ankle clonus, Increased v... |
OMIM:613954 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... |
OMIM:615157 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Loss of ambulation, Decreased cervical spine flexion due to contractures of posterior cervical mu... |
ORPHA:254361 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Ataxia, Inability to walk, Lower-limb joint contracture, Upper-lim... |
ORPHA:300605 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Gowers sign, Decreased nerve conduction velocity, Internally nucleated skeletal muscle ... |
OMIM:618138 |
Myopathy And Diabetes Mellitus |
|
Inability to walk, Progressive cerebellar ataxia, Tip-toe gait, Progressive proximal muscle weakn... |
ORPHA:2596 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Loss of ambulation, Decreased number of large peripheral myelinated nerve fibers, Limb at... |
OMIM:208920 |
Emanuel Syndrome |
|
High palate, Cleft palate, Congenital hip dislocation, Ventricular septal defect, Anal atresia, M... |
OMIM:609029 |
Acute Erythroid Leukemia |
|
Bone marrow hypercellularity, Leukopenia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocel... |
ORPHA:318 |
Pseudoxanthoma Elasticum |
|
Angina pectoris, Stroke, Macular degeneration, Accelerated atherosclerosis, Gastrointestinal hemo... |
OMIM:264800 |
Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... |
OMIM:271150 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... |
OMIM:265380 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Paraparesis, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gliosis, Cer... |
OMIM:105550 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... |
OMIM:612158 |
Emanuel Syndrome |
|
High palate, Multiple joint contractures, Cleft palate, Congenital hip dislocation, Abnormality o... |
ORPHA:96170 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Failure to thrive, Proximal muscle weakness, Axonal degeneration, Weakness of facial musculature,... |
OMIM:618811 |
Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Loss of ambulation, Neuronal loss in central nervous system, Dista... |
OMIM:608627 |
Spinal Muscular Atrophy, Type Ii |
|
Hand tremor, Degeneration of anterior horn cells, Spinal muscular atrophy, Muscle weakness, Tongu... |
OMIM:253550 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Axonal degeneration, Arthrogryposis-like hand anomaly, Distal muscle weakness, Diaphragmatic even... |
OMIM:620011 |
Inherited Creutzfeldt-Jakob Disease |
|
Progressive extrapyramidal muscular rigidity, Progressive cerebellar ataxia, Babinski sign, Chore... |
ORPHA:282166 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Distal muscle weakness, Degeneration of anter... |
OMIM:602433 |
Arts Syndrome |
|
Ataxia, Recurrent upper respiratory tract infections, Optic atrophy, Progressive muscle weakness,... |
OMIM:301835 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Cerebral cortical atrophy, Limb ataxia, Hand tremor, Degeneration of anterior horn cells,... |
OMIM:607596 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short neck, Ventricular septal defect, Webbed neck, Abnormal aortic morphology, Truncus arteriosus |
ORPHA:2516 |
Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Abnormal cardiac ventricu... |
ORPHA:439232 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Muscle weakness, Distal upper limb amyotrophy, Abnor... |
ORPHA:65684 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration, Scoliosis, Foot dorsiflexor weakness, Distal sensory impairment, Gait distur... |
OMIM:616155 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab... |
ORPHA:216694 |
22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Cleft palate, Micrognathia, Tetralogy of Fallot, Ventricular septal defec... |
ORPHA:1727 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Short neck, Enlarged kidney, Optic atrophy, Thrombocytopenia,... |
OMIM:617303 |
Nephrotic Syndrome, Type 11 |
|
High palate, Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Cleft palate... |
OMIM:616730 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left ventricular nonc... |
OMIM:601493 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Webbed neck, Atrial septal defect, Systolic heart murmur, Cyanosis, Tetralogy ... |
OMIM:617478 |
Timothy Syndrome |
|
Hypocalcemia, Microdontia, Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Bronch... |
OMIM:601005 |
Galloway-Mowat Syndrome 7 |
|
High palate, Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Cleft palate... |
OMIM:618348 |
Cockayne Syndrome Type 3 |
|
Stroke, Subdural hemorrhage, Retinal degeneration, Premature coronary artery atherosclerosis, Hep... |
ORPHA:90324 |
Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Horseshoe kidney, Pulm... |
OMIM:601186 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Kyphoscoliosis, Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Short ... |
OMIM:604168 |
Oculopharyngodistal Myopathy |
|
Weakness of facial musculature, Difficulty walking, Distal lower limb amyotrophy, Fatigable weakn... |
ORPHA:98897 |
Thymic Aplasia With Fetal Death |
|
Stillbirth, Truncus arteriosus |
OMIM:274210 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Increased va... |
ORPHA:399058 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Long philtrum, Pulmonary ar... |
ORPHA:401935 |
Velocardiofacial Syndrome |
|
Unilateral primary pulmonary dysgenesis, Hypoparathyroidism, Hypocalcemia, Velopharyngeal insuffi... |
OMIM:192430 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
Waldenström Macroglobulinemia |
|
Urticaria, Stroke, Hepatomegaly, Cutis marmorata, Gastrointestinal hemorrhage, Leukemia, Malabsor... |
ORPHA:33226 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Infertility, Right aortic arch, Situs inversus totalis |
OMIM:617577 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Sensory ataxia, Cerebral atrophy, EMG: myopathic abnormalities, Parkinsonism, Sensory axonal neur... |
OMIM:609286 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoparathyroidism, Narrow mouth, Hypocalcemia, Failure to thrive,... |
ORPHA:3426 |
Desminopathy |
|
Supraventricular arrhythmia, Loss of ambulation, Atrioventricular block, Spinal rigidity, Concent... |
ORPHA:98909 |
Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Centrally nucleated skeletal muscle fibers, Scapular winging, Hand muscle atroph... |
OMIM:616852 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Intrinsic hand muscle atrophy, Abnormal left ventricular function, Progressive proximal muscle we... |
ORPHA:98912 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
High palate, Double outlet right ventricle, Atrial septal defect, Cryptorchidism, Severe failure ... |
ORPHA:3304 |
Marinesco-Sjogren Syndrome |
|
Failure to thrive, Ataxia, Kyphosis, Limb ataxia, Flexion contracture, Short stature, Hypergonado... |
OMIM:248800 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Retinal degeneration, Abnormal renal physiolog... |
ORPHA:191 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Webbed neck, Hydranencephaly, Truncus arteriosus |
OMIM:601355 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Parkinsonism with favorable response to dopaminergic medication, Testicular atrophy, Hypergonadot... |
OMIM:157640 |
Gitelman Syndrome |
|
Respiratory distress, Graves disease, Gout, Type I diabetes mellitus, Proteinuria, Primary hypera... |
ORPHA:358 |
Schimke Immuno-Osseous Dysplasia |
|
Stroke, Short neck, Microdontia, Abnormal proportion of naive CD4 T cells, Proteinuria, Bone marr... |
ORPHA:1830 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Somatic sensory dysfunction, ... |
OMIM:612577 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gliosis, Athetosis, Paralysis, Dystonia, Axonal loss |
OMIM:300857 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Hypocalcemia, Autoimmune hypoparathyroidism, Ventricular arrh... |
ORPHA:36913 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Failure to thrive, Diaphragmatic weakness, Decreased nerve conduction velocity, Axonal degenerati... |
OMIM:604320 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Respiratory distress, Delirium, Subarachnoid hemorrhage, Hematuria, ... |
ORPHA:90068 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Abnormality of the ... |
ORPHA:600 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Supraventricular arrhythmia, Stroke, Raynaud phenomenon, Nephropathy, Hematuria, Retinal hemorrha... |
OMIM:611773 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Bone Marrow Failure Syndrome 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia |
OMIM:614675 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Quadriceps muscle weakness, Babinski sign, Paresis of extensor muscles of the big toe, Optic atro... |
ORPHA:99947 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
22Q11.2 Deletion Syndrome |
|
Tricuspid atresia, Cholelithiasis, Cleft palate, Abnormality of the dentition, Short philtrum, Sh... |
ORPHA:567 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Megakaryocyte dysplasia, Pancytopenia, Bone marro... |
OMIM:619041 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Atrial septal defect, Elevated circulating propionylcarnitine concentration, M... |
OMIM:614857 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Cleft palate, Micropenis, Renal agenesis, Mitral regurgitation, Pu... |
ORPHA:2326 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Atrial septal defect, Cryptorchidism, Cleft palate, Micropenis, Hyperbilirubinemia,... |
ORPHA:163979 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615396 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... |
OMIM:601927 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Dist... |
OMIM:606482 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Abnormal megakaryocyte morphology, Dysplastic granulopoesis, Gra... |
ORPHA:75564 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Amyotrophic lateral sclerosis, Distal muscle weakness, Babinski sign, Abnormal pyramidal sign, Di... |
OMIM:602099 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... |
OMIM:616749 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Failure to thrive, Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morpho... |
ORPHA:99050 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Neonatal death, Truncus arteriosus |
OMIM:228940 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
High palate, Angina pectoris, Premature occlusive vascular stenosis, Medial calcification of medi... |
OMIM:177850 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, R... |
ORPHA:980 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hepatomegaly, Neutrophilia, Hemothorax, Hematuria, M... |
ORPHA:99827 |
Andersen-Tawil Syndrome |
|
High palate, Abnormality of the dentition, Bidirectional ventricular ectopy, Hypoplasia of the ma... |
ORPHA:37553 |
Laing Early-Onset Distal Myopathy |
|
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... |
ORPHA:59135 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Carious teeth, Ventricular septal defect, Pneumonia, Patellar dislocation, Abnormal heart morphol... |
ORPHA:353281 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea, Hepatomegaly, Increased variability in muscle fiber diameter, Skelet... |
ORPHA:17 |
Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Degeneration of anterior horn cells, Degen... |
OMIM:105400 |
Johnson Neuroectodermal Syndrome |
|
Cleft palate, Micropenis, Retrognathia, Hypogonadotropic hypogonadism, Carious teeth, Ventricular... |
OMIM:147770 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Flexion contractur... |
OMIM:301830 |
Schimke Immunoosseous Dysplasia |
|
Stroke, Short neck, Microdontia, Proteinuria, Pancytopenia, Transient ischemic attack, Abnormal T... |
OMIM:242900 |
Catel-Manzke Syndrome |
|
High palate, Cleft upper lip, Joint dislocation, Cleft palate, Glossoptosis, Micrognathia, Short ... |
OMIM:616145 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... |
OMIM:616437 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Ataxia, Flexion contracture of finger, Truncal titubation, Axonal degeneration, Impaire... |
ORPHA:88628 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Machado-Joseph Disease Type 3 |
|
Supranuclear ophthalmoplegia, Progressive cerebellar ataxia, Babinski sign, Spasticity, Distal lo... |
ORPHA:276244 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Myoclonus, Babinski s... |
ORPHA:204 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Amyotrophy of ankle musculature, Intrinsic hand muscle atrophy, Clumsiness, Joint contracture of ... |
ORPHA:399086 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Amyotrophic lateral sclerosis, Parkinsonism, Abnormal lower motor neuron morphology, Paralysis, M... |
OMIM:105500 |
Williams Syndrome |
|
Cholelithiasis, Wide mouth, Stroke, Abnormal carotid artery morphology, Abnormality of the ankles... |
ORPHA:904 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Stroke, Medial calcification of medium-sized arteries, Aortic dissection, V... |
ORPHA:51608 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Splenomegaly, Cutis marmorata, Ventricular septal defect, Renal hypoplas... |
OMIM:616589 |
Chloramphenicol Toxicity |
|
Aplastic anemia |
OMIM:515000 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Gray matter heterotopia, Secundum atrial septal defect, Cere... |
OMIM:617397 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
High palate, Prominent veins on trunk, Abnormal circulating apolipoprotein concentration, Failure... |
ORPHA:357074 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... |
OMIM:614373 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gait disturbance, Fascicu... |
OMIM:608030 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Coma, ST segment depression, Cerebral hemorrhage, Leukocytosis, Left ventricular hypertrophy, Cer... |
ORPHA:90065 |
Adrenomyeloneuropathy |
|
Female sexual dysfunction, Axonal degeneration, Babinski sign, Abnormality of peripheral nervous ... |
ORPHA:139399 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia, Premature o... |
OMIM:615889 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Melena, Hematochezia, Thrombocytopenia, Abnormal lung morphology, Gastrointestinal hemorrhage, Ab... |
ORPHA:464321 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Abnormal retinal vascular morphology, Raynaud phenomenon, Hypertension, Weakness of facial muscul... |
ORPHA:247691 |
3-Methylglutaconic Aciduria, Type V |
|
3-Methylglutaric aciduria, Hypospadias, Sudden cardiac death, Optic atrophy, Dilated cardiomyopat... |
OMIM:610198 |
Scimitar Syndrome |
|
Tricuspid atresia, Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous retu... |
ORPHA:185 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Enlarged kidney, ... |
OMIM:615415 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Respiratory insufficiency, Cerebellar hypoplasia, Patent ductus arteriosu... |
OMIM:616276 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Shoulder girdle muscle weakness, Exertional dyspnea, EMG: myopathic abnorm... |
ORPHA:263297 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency due to muscle weakness, Bulbar palsy, Progressive proximal muscle weakn... |
ORPHA:254875 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Heart murmur, Basilar artery calcification, Transient ischemi... |
ORPHA:365 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
Digeorge Syndrome |
|
High palate, Hydrocele testis, Cholelithiasis, Cleft palate, Ovarian cyst, Short philtrum, Thromb... |
OMIM:188400 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
Progressive Non-Fluent Aphasia |
|
Temporal cortical atrophy, Senile plaques, Parkinsonism, Astrocytosis, Abnormal lower motor neuro... |
ORPHA:100070 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Apnea, Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate l... |
OMIM:619048 |
Galloway-Mowat Syndrome 3 |
|
High palate, Failure to thrive, Narrow mouth, Nephrotic syndrome, Hiatus hernia, Diffuse mesangia... |
OMIM:617729 |
Feingold Syndrome Type 1 |
|
Tricuspid atresia, Anal atresia, Duodenal atresia, Nephritis, Tricuspid stenosis, Micrognathia, A... |
ORPHA:391641 |
Distal Trisomy 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity, Muscle weakness, Skel... |
OMIM:612069 |
Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615373 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia, Atrial septal defect, Cleft palate, Hypospadias, Short philtrum, Micrognathia, Cere... |
OMIM:300712 |
Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Myelofibrosis, Abnormality of bo... |
ORPHA:86843 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Myoclonus, ... |
OMIM:600795 |
Infantile Refsum Disease |
|
Failure to thrive, Ataxia, Short stature, Arrhythmia, Optic atrophy, Progressive muscle weakness,... |
ORPHA:772 |
Acrocardiofacial Syndrome |
|
Cleft upper lip, Mitral stenosis, Anal atresia, Atrial septal defect, Hypoplasia of penis, Cleft ... |
ORPHA:2008 |
Distal Anoctaminopathy |
|
Progressive proximal muscle weakness, Calf muscle pseudohypertrophy, Distal amyotrophy, Progressi... |
ORPHA:399096 |
Eisenmenger Syndrome |
|
Angina pectoris, Supraventricular arrhythmia, Respiratory distress, Stroke, Hepatomegaly, Elevate... |
ORPHA:97214 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
High palate, Hepatomegaly, Cleft palate, Urachus fistula, Cor triatriatum, Splenomegaly, Recurren... |
OMIM:612541 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... |
ORPHA:1330 |
Alport Syndrome |
|
Macular degeneration, Glomerular C3 deposition, Hematuria, Retinal flecks, Thickened glomerular b... |
ORPHA:63 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Mitral regurgitation, Polymicrogyria, Ventricular septal defect, Knee flexi... |
OMIM:603387 |
Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Respiratory distress, Ethylm... |
ORPHA:26792 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Flexion contracture, Micropenis, Hypospadias, Dilated cardiomyopathy, Death in infancy, Simplifie... |
OMIM:618815 |
Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, Gowers sign, Left ventricular hypertrophy, Scapular winging, Ty... |
ORPHA:169186 |
Ogden Syndrome |
|
High palate, Hydrocele testis, Apnea, Abnormality of the dentition, Short philtrum, Short neck, C... |
OMIM:300855 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Distal ... |
OMIM:605285 |
Stankiewicz-Isidor Syndrome |
|
Micropenis, Retrognathia, Hypospadias, Micrognathia, Ureteral duplication, Ventricular septal def... |
OMIM:617516 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Proximal muscle weakness, Abnormal muscle fiber morphology, Kyphoscoliosis, Weak... |
ORPHA:1145 |
Rubinstein-Taybi Syndrome 1 |
|
High palate, Respiratory distress, Cleft palate, Premature thelarche, Ventricular septal defect, ... |
OMIM:180849 |
Amyotrophic Lateral Sclerosis 21 |
|
Amyotrophic lateral sclerosis, Hand muscle weakness, Decreased nerve conduction velocity, Distal ... |
OMIM:606070 |
Distal Nebulin Myopathy |
|
Slender build, Nemaline bodies, Progressive proximal muscle weakness, EMG: myopathic abnormalitie... |
ORPHA:399103 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Hepatomegaly, Atrioventricular canal defect, Vegeta... |
OMIM:619534 |
Amyotrophy, Hereditary Neuralgic |
|
Short stature, Axonal degeneration, Peripheral axonal degeneration, Brachial plexus neuropathy, M... |
OMIM:162100 |
Triosephosphate Isomerase Deficiency |
|
Failure to thrive, Respiratory insufficiency due to muscle weakness, Kyphosis, Cerebral atrophy, ... |
OMIM:615512 |
1Q21.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Failure to thrive, Cryptorchidism, Long philtrum... |
ORPHA:250989 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Atrioventricular canal defect, Short neck, Ventricular septal defect, Horseshoe kidney, Abnormal ... |
ORPHA:508498 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle weakness, Distal muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Di... |
OMIM:607641 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Distal muscle weakness, Peripheral axonal neuropathy, Distal sensory impairment, Difficulty walki... |
OMIM:613710 |
Apert Syndrome |
|
Cleft palate, Craniosynostosis, Delayed eruption of teeth, Ventricular septal defect, Pyloric ste... |
OMIM:101200 |
Meacham Syndrome |
|
Congenital alveolar dysplasia, Enlarged kidney, Ventricular septal defect, Horseshoe kidney, Pulm... |
OMIM:608978 |
Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Coronary artery aneurysm, Cardiomegaly, Abnormal heart mo... |
ORPHA:2041 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Wide mouth, Short philtrum, Limb hypertonia, Mandibular prognathia, Ankyloglossia, Agenesis of in... |
OMIM:619841 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Stroke, Vasculitis in the skin, Raynaud phenomenon, Macular edema, Hematuria, Retinal hemorrhage,... |
OMIM:192315 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Sinusitis, Asthma, Hepatomegaly, Lymphopenia, Diffuse mesangial sclerosis, Spl... |
OMIM:102700 |
Fabry Disease |
|
Angina pectoris, Telangiectasia of the skin, Hematuria, Optic atrophy, Proteinuria, Abnormal myoc... |
ORPHA:324 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Failure to thrive, Stroke, Hepatomegaly, Coma, Splenomegaly, Hyperammonemia... |
ORPHA:79312 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Unsteady gait, Skeletal musc... |
ORPHA:101097 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Broad-based gait, Inability to walk, Axonal degeneration, Vocal cord paralysis, Peripheral axonal... |
OMIM:615490 |
Duchenne Muscular Dystrophy |
|
Flexion contracture, Calf muscle hypertrophy, Scoliosis, Progressive muscle weakness, Waddling ga... |
ORPHA:98896 |
Lethal Congenital Contracture Syndrome 10 |
|
High palate, Torticollis, Narrow palate, Micrognathia, Hypoplasia of the thymus, Short neck, Long... |
OMIM:617022 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
High palate, Apnea, Hepatomegaly, Polymicrogyria, Enlarged kidney, Elevated circulating creatinin... |
OMIM:608836 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Peroneal muscle weakness, Gliosis, Decreased nerve conduction velocity, Trophic limb changes, Ort... |
OMIM:118301 |
Heart And Brain Malformation Syndrome |
|
Wide anterior fontanel, High, narrow palate, Everted lower lip vermilion, Limb hypertonia, Campto... |
OMIM:616920 |
Amyotrophic Lateral Sclerosis 9 |
|
Distal muscle weakness, Amyotrophic lateral sclerosis, Spasticity, Distal amyotrophy |
OMIM:611895 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Pul... |
ORPHA:567548 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Overriding aorta, Lon... |
ORPHA:477817 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Nephrotic syndrome, Retinal arteriolar constriction, Diffuse mesangial sclerosis, Optic atrophy, ... |
OMIM:249660 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
High palate, Hydrocele testis, Abnormal subclavian artery morphology, Carious teeth, Ventricular ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
High palate, Hydrocele testis, Abnormal subclavian artery morphology, Carious teeth, Ventricular ... |
ORPHA:353277 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis, Loss of ambulation, Respiratory insufficiency due to muscle weakness |
OMIM:615515 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... |
ORPHA:66529 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Spasticity, Muscle weakness, Fasciculations, Skeletal muscle atrophy |
OMIM:614808 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia |
OMIM:614743 |
Charcot-Marie-Tooth Disease Type 4A |
|
Poor gross motor coordination, Inability to walk, Weakness of facial musculature, Quadriceps musc... |
ORPHA:99948 |
Monosomy 18Q |
|
High palate, Wide mouth, Short philtrum, Open mouth, Mandibular prognathia, Bilateral cryptorchid... |
ORPHA:1600 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Optic atrophy, Thickened glomerular basement membrane, Proteinuria, Pericarditis, W... |
OMIM:619487 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Loss of ambulation, Tongue fasciculations, Muscle weakness, Fascic... |
OMIM:613435 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Kyphosis, Inability to walk, Cerebral atrophy, Paucity of anterior horn motor ne... |
OMIM:611890 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Granulomatosis With Polyangiitis |
|
Angina pectoris, Elevated circulating C-reactive protein concentration, Hematuria, Proteinuria, G... |
ORPHA:900 |
Distal Myotilinopathy |
|
Multiple joint contractures, Progressive proximal muscle weakness, EMG: myopathic abnormalities, ... |
ORPHA:98911 |
Melas |
|
Fluctuations in consciousness, Optic atrophy, Type I diabetes mellitus, Proteinuria, Proximal tub... |
ORPHA:550 |
Scorpion Envenomation |
|
Stroke, Glycosuria, Myocarditis, Bundle branch block, Tachycardia, Arrhythmia, Erythema, Abnormal... |
ORPHA:466677 |
Myofibrillar Myopathy 10 |
|
Flexion contracture of finger, Left ventricular hypertrophy, EMG: myopathic abnormalities, Percus... |
OMIM:619040 |
Spinocerebellar Ataxia With Dysmorphism |
|
Ataxia, Coarse hair, Babinski sign, Scoliosis, Cerebellar atrophy |
OMIM:271270 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Fatigable weakness of swallowing muscles, Neurodegeneration, Fatig... |
ORPHA:803 |
Bethlem Myopathy |
|
Multiple joint contractures, Quadriceps muscle weakness, Difficulty walking, Achilles tendon cont... |
ORPHA:610 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Fasciculations, Limb muscle weakness, Muscle weakness |
OMIM:619141 |
Transcobalamin Deficiency |
|
Neutropenia, Lymphopenia, Megaloblastic bone marrow, Pancytopenia, Thrombocytopenia |
ORPHA:859 |
Asbestos Intoxication |
|
Reduced vital capacity, Ground-glass opacification, Reduced forced vital capacity, Hepatojugular ... |
ORPHA:2302 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Oromandibular dystonia, Bradykinesia, Tip-toe gait, Spastic paraparesis, Rigidity, Neurodegenerat... |
OMIM:615643 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Small for gestational age, Left ventricular hypertroph... |
OMIM:616733 |
Charge Syndrome |
|
Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Horseshoe kidney, Umbilical h... |
OMIM:214800 |
Mucopolysaccharidosis, Type Vii |
|
Kyphosis, Hirsutism, Thick eyebrow, Macroglossia, Flexion contracture, Short stature, Chronic bro... |
OMIM:253220 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Recurrent myoglobinuria, Nephrotic syndrome, Decreased level of coenzyme Q10 in skeletal muscle, ... |
OMIM:607426 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Loss of ambulation, Female infertility, Short stature, Skeletal muscle autopha... |
OMIM:619518 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Airway obstruction, Stroke, Systol... |
ORPHA:99103 |
Fabry Disease |
|
Angina pectoris, Airway obstruction, Angiokeratoma, Anemia, Left ventricular hypertrophy, Arrhyth... |
OMIM:301500 |
Lambert Syndrome |
|
Ventricular septal defect, Branchial anomaly |
ORPHA:1296 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... |
OMIM:603965 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Hypoplastic tricuspid valve, Ventricular septal defect, Pancreatic hypoplas... |
ORPHA:2255 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia |
ORPHA:1208 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Ventricular septal defect, Pneumonia, Increased circulating f... |
ORPHA:26793 |
Galloway-Mowat Syndrome 2, X-Linked |
|
High palate, Nephrotic syndrome, Micrognathia, Polymicrogyria, Proteinuria, Glomerular sclerosis,... |
OMIM:301006 |
Charge Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Delayed eruption of ... |
ORPHA:138 |
Multifocal Motor Neuropathy |
|
Motor conduction block, Progressive muscle weakness, Limb muscle weakness, Weakness of long finge... |
ORPHA:641 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Patent urachus, Prolonged bleed... |
OMIM:618280 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Decreased response to growth hormone stimulation test, Elevated circulating parathy... |
ORPHA:94089 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
Cardiogenic Shock |
|
Low pulse pressure, Myocardial infarction, Elevated circulating creatinine concentration, Low-out... |
ORPHA:97292 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Chordee, Anal atresia, Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate, Micro... |
OMIM:309801 |
Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular hypertrophy, Small ... |
ORPHA:70589 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Joint contracture of the hand, Distal muscle weakness, Scoliosis, Distal amyotrophy, Abnormal low... |
OMIM:611067 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
High palate, Streak ovary, Horseshoe kidney, Bilateral cryptorchidism, Prolonged QT interval, Cho... |
ORPHA:1772 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Flexion contracture, Impaired distal tactile sensation, Proximal muscle weakness in lower limbs, ... |
OMIM:607706 |
Aortic Arch Interruption |
|
Respiratory distress, Blood pressure substantially higher in arms than legs, Systolic heart murmu... |
ORPHA:2299 |
Galloway-Mowat Syndrome 6 |
|
High palate, Wide mouth, Nephrotic syndrome, Cerebellar vermis atrophy, Decreased response to gro... |
OMIM:618347 |
Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Muscular ventricular septal defect, Diaphragmatic eventration, Hypochromic m... |
ORPHA:66634 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, ... |
OMIM:617575 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Apnea, Hepatomegaly, Aminoaciduria, Cleft palate, Joint contracture of the han... |
OMIM:214110 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Congestive heart failure, Positive regitine blocki... |
ORPHA:276621 |
Nemaline Myopathy 5 |
|
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Progressive... |
OMIM:605355 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Hypertension, A... |
OMIM:603278 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Failure to thrive, Ethylmalonic aciduria, Flexion contracture, Lethargy, Facial palsy, Cardiomyop... |
OMIM:201470 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Distal muscle weakness, Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:205250 |
Ethylene Glycol Poisoning |
|
Gastritis, Hematuria, Decreased urine output, Atrial fibrillation, Prolonged QT interval, Renal t... |
ORPHA:31826 |
Amish Nemaline Myopathy |
|
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Progressive musc... |
ORPHA:98902 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Distal muscle weakness, Distal amyotrophy, Tremor, Difficulty walking, Vocal cord paresis, Vocal ... |
OMIM:158580 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tooth agenesis, Renal hypoplasia/aplasia, Congenital diaphragmatic hernia, Cleft palate, Abnormal... |
ORPHA:1166 |
Oligomeganephronia |
|
Decreased glomerular filtration rate, Optic disc coloboma, Elevated circulating creatinine concen... |
ORPHA:2260 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Inability to walk, Reduced left ventricular ejection fraction, Decreased body weight, Flexion con... |
ORPHA:258 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Failure to thrive, Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total ab... |
OMIM:600001 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, 3-Methylglutaconic aciduria, Death in infancy, Neutropenia, Respiratory failure, Bradycardia |
OMIM:617248 |
17Q24.2 Microdeletion Syndrome |
|
Tooth malposition, Pulmonic stenosis, Micrognathia, Short philtrum, Short neck, Abnormality of th... |
ORPHA:529962 |
Galloway-Mowat Syndrome 4 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Cerebellar hypoplasia, Polymicrogyria, Proteinur... |
OMIM:617730 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... |
ORPHA:71212 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Narrow mouth, Atrial septal defect, High, narrow palate, Cleft palate, Malar flattening, Branchia... |
ORPHA:261330 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Retinal degeneration, Rod-cone dystrophy, Renal agenesis, Abnormality of th... |
OMIM:615993 |
Drug-Induced Lupus Erythematosus |
|
Petechiae, Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, ... |
ORPHA:231111 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Diffuse mesangial sclerosis... |
OMIM:256300 |
Aplastic Anemia |
|
Bone marrow hypocellularity, Aplastic anemia |
OMIM:609135 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Narrow mouth, Arteriovenous malformation, Genu varum, Hypoplasia of the zygomatic bone, Downturne... |
ORPHA:1110 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... |
OMIM:613237 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium morphology... |
ORPHA:567544 |
Cerebrotendinous Xanthomatosis |
|
Paraparesis, Ataxia, Gliosis, Axonal degeneration, Babinski sign, Optic atrophy, Optic disc pallo... |
ORPHA:909 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Hepatomegaly, Abnormality of the shoulder girdle musculature, Low-output congest... |
ORPHA:565612 |
Thrombotic Thrombocytopenic Purpura |
|
Stroke, Coma, Arrhythmia, Hematuria, Decreased serum creatinine, Confusion, Myocardial infarction... |
ORPHA:54057 |
Cardiac Diverticulum |
|
Angina pectoris, Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hern... |
ORPHA:1686 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High palate, Hyperinsulinemia, Abnormality of the dentition, Short neck, High urinary gonadotropi... |
ORPHA:99413 |
Mosaic Monosomy X |
|
High palate, Hyperinsulinemia, Abnormality of the dentition, Short neck, High urinary gonadotropi... |
ORPHA:99228 |
Monosomy X |
|
High palate, Hyperinsulinemia, Abnormality of the dentition, Short neck, High urinary gonadotropi... |
ORPHA:99226 |
Turner Syndrome |
|
High palate, Hyperinsulinemia, Abnormality of the dentition, Short neck, High urinary gonadotropi... |
ORPHA:881 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Hypertension |
OMIM:607832 |
3C Syndrome |
|
Abnormal mitral valve morphology, Cleft palate, Atrioventricular canal defect, Short neck, Aplasi... |
ORPHA:7 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Aminoaciduria, Elevated circulating creatine kinase concentration, Hypergl... |
OMIM:619386 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, Cerebral atrophy, Neurodegeneration, Optic atrophy, Cerebellar atrophy |
OMIM:610951 |
Monosomy 22 |
|
High palate, Joint swelling, Micropenis, Retrognathia, Thin vermilion border, Hepatosplenomegaly,... |
ORPHA:96123 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Ileus, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Skel... |
OMIM:613327 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... |
OMIM:249670 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Abnormal heart valve physiology, Miscarriage, Stroke, Coombs-positive hemolytic ... |
ORPHA:464343 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Pili torti, Ataxia, Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or abs... |
ORPHA:2891 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Ground-glass opacification, Reticulonodula... |
ORPHA:79126 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Left ventricular hypertrophy, Intracranial hemorrhage, Hypercalciuria, Adrenal hyper... |
ORPHA:251274 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, Patent ductus arteriosus after birth at term, T-wave alternans, Second de... |
OMIM:618782 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cleft palate, Optic atrophy, Ventricular septal defect, Right bundle branch block, ... |
ORPHA:137675 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Myocarditis, Rhiniti... |
ORPHA:319213 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ataxia, Dysmetria, External ophthalmoplegia, Ankle clonus, Dysdiadochokinesis, Babinski sign, Neu... |
OMIM:612319 |
Ogden Syndrome |
|
Torticollis, Microretrognathia, High, narrow palate, Pulmonary artery stenosis, Cryptorchidism, D... |
ORPHA:276432 |
Galloway-Mowat Syndrome 8 |
|
Abnormal cerebellum morphology, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segme... |
OMIM:618349 |
Gaisböck Syndrome |
|
Angina pectoris, Stroke, Gout, Increased circulating renin level, Myocardial infarction, Hyperuri... |
ORPHA:90041 |
Bronchogenic Cyst |
|
Pulmonary cyst, Back pain, Abnormality of the diaphragm, Abnormal lumbar spine morphology, Abnorm... |
ORPHA:2357 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hematuria, Proteinuria, Adrenal pheochromocytoma, Weight loss, Elevated urinary epinephrine, Cere... |
ORPHA:29072 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Kyphosis, Ataxia, Skeletal muscle hypertrophy, Scoliosis, Optic atrophy, Gait distur... |
ORPHA:99014 |
Dextrocardia |
|
Congenital malformation of the great arteries, Intestinal malrotation, Abnormality of the ureter,... |
ORPHA:1666 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Failure to thrive, Ankle flexion contracture, Hepatomegaly, High, narrow pa... |
OMIM:608799 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Atrophy/Degeneration affecting the brainstem, Ventricular septal defect, Death in infancy,... |
OMIM:616277 |
Leptospirosis |
|
Respiratory distress, Hepatomegaly, Pulmonary hemorrhage, Macular cotton wool spot, Pericarditis,... |
ORPHA:509 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Chronic kidney disease, Joint dislocation, Subdural hemorrhage, Retinal hemorrhage, Glutaric acid... |
ORPHA:25 |
Galloway-Mowat Syndrome 1 |
|
High palate, Wide mouth, Nephrotic syndrome, Hiatus hernia, Joint contracture of the hand, Diffus... |
OMIM:251300 |
Syndromic Diarrhea |
|
Hepatomegaly, Gastritis, Ventricular septal defect, Abnormality of iron homeostasis, Abnormal hea... |
ORPHA:84064 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Ataxia, Cerebral cortical atrophy, Babinski sign, Parkinsonism, Pr... |
OMIM:615911 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... |
OMIM:614470 |
Giant Axonal Neuropathy |
|
Proximal muscle weakness, Woolly hair, Distal muscle weakness, Babinski sign, Scoliosis, Falls, D... |
ORPHA:643 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
OMIM:619924 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... |
ORPHA:95434 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
Peters-Plus Syndrome |
|
Cleft palate, Craniosynostosis, Short neck, Ventricular septal defect, Hypoplasia of the maxilla,... |
OMIM:261540 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Congenital hypothyroidism, Podocyte foot process effacement, Protein... |
OMIM:619609 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Paraparesis, Bulbar palsy, Gliosis, Progressive cerebellar ataxia, Abnormality of extrapyramidal ... |
ORPHA:275872 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Decreased nerve conduction velocity, Distal muscle weakness, Scoliosis, Foot dorsifl... |
OMIM:302802 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Ataxia, Flexion contracture, Short stature, Conjunctival telangiectasia, Neurodegeneration, Progr... |
OMIM:615919 |
Acitretin/Etretinate Embryopathy |
|
High palate, Median cleft palate, Atrioventricular canal defect, Micrognathia, Hypoplasia of the ... |
ORPHA:40366 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Abnormal motor neuron mo... |
DECIPHER:29 |
Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Fasciculations, Astrocytosis, Gait disturbance, Frontotemporal cerebral atrophy... |
ORPHA:275864 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Stroke, Anomalous branches of internal carotid artery, Ventricular septal d... |
ORPHA:363705 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Pancytopenia |
OMIM:600546 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Cerebral cortical atrophy, Decreased body weight, Cerebral atrophy, Abnormal pyramidal si... |
OMIM:617672 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Ketonuria, Stroke, Hyperammonemia, EMG: myopath... |
ORPHA:480864 |
Mucopolysaccharidosis Type 3 |
|
Ataxia, Coarse hair, Optic atrophy, Reduced left ventricular ejection fraction, Spasticity, Atrio... |
ORPHA:581 |
Trisomy 20P |
|
Vertebral segmentation defect, Kyphosis, Low anterior hairline, Thick eyebrow, Abnormal autonomic... |
ORPHA:261318 |
Patent Ductus Arteriosus 2 |
|
Patent ductus arteriosus |
OMIM:617035 |
Myopathy, Myofibrillar, 4 |
|
Progressive proximal muscle weakness, EMG: myopathic abnormalities, Myofibrillar myopathy, Progre... |
OMIM:609452 |
Galloway-Mowat Syndrome 5 |
|
Nephrotic syndrome, Proteinuria, Mandibular prognathia, Pachygyria, Stage 5 chronic kidney diseas... |
OMIM:617731 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... |
OMIM:254900 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Atrial septal defect |
OMIM:615297 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Hepatomegaly, Splenomegaly, Abnormal bleeding, Arrhythmia, Aplastic anemia, Hemolyti... |
ORPHA:398124 |
Simpson-Golabi-Behmel Syndrome |
|
Wide mouth, Hepatomegaly, Cleft palate, Aplasia/Hypoplasia of the abdominal wall musculature, Sho... |
ORPHA:373 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... |
OMIM:252011 |
Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Stroke, Tendon ru... |
ORPHA:85451 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal bleeding, Palpitations, Retinal hemorrhag... |
ORPHA:86839 |
Nephrotic Syndrome, Type 24 |
|
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... |
OMIM:619263 |
Lethal Infantile Mitochondrial Myopathy |
|
Neonatal respiratory distress, Cardiomyopathy, Renal insufficiency, Lethargy |
ORPHA:254857 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Orthostatic hy... |
OMIM:252320 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Hypodontia, Supernumerary nipple, Retinal vascular proliferation, Cam... |
ORPHA:464 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Cerebral atrophy, Abnormal autonomic nervous system physiology, Spastic paraparesis... |
OMIM:300894 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Foot dorsiflexor weakness, Focal segmental glomerulosclerosis, Proteinuria, Distal upper limb amy... |
OMIM:614455 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Stroke, Atrial septal defect, Paroxysmal atrial tachycardia, Retinal dystro... |
ORPHA:49827 |
Al Amyloidosis |
|
Hepatomegaly, Renal interstitial amyloid deposits, Proteinuria, Postural hypotension with compens... |
ORPHA:85443 |
Distal Myopathy With Anterior Tibial Onset |
|
Intrinsic hand muscle atrophy, Finger flexor weakness, Progressive proximal muscle weakness, Limb... |
ORPHA:178400 |
Congenital Left Ventricular Aneurysm |
|
Apnea, Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Cong... |
ORPHA:1055 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Holoprosencephaly |
|
Short neck, Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Ventricular septal defect, Media... |
ORPHA:2162 |
Mucopolysaccharidosis, Type Iiid |
|
Hirsutism, Thoracic scoliosis, Thick eyebrow, Hypoplastic vertebral bodies, Macroglossia, Short s... |
OMIM:252940 |
Primary Pulmonary Hypoplasia |
|
Failure to thrive, Apnea, Asthma, Secundum atrial septal defect, Cleft palate, Hypoxemia, Microgn... |
ORPHA:2257 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Coma, Hyperammonemia, Cachexia, Elevated circulating creatine kinase concentration,... |
ORPHA:42 |
Perlman Syndrome |
|
Long upper lip, Nephrogenic rest, Nephroblastomatosis, Congenital diaphragmatic hernia, Micrognat... |
OMIM:267000 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
High palate, Apnea, Flexion contracture, Tachycardia, Erythema, Retinal hemorrhage, Ventricular s... |
OMIM:614653 |
Primary Ciliary Dyskinesia |
|
Airway obstruction, Anomalous pulmonary venous return, Chronic sinusitis, Polysplenia, Respirator... |
ORPHA:244 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Sudden... |
ORPHA:391665 |
Wild Type Attr Amyloidosis |
|
Nephrotic syndrome, Hepatomegaly, Pulmonary edema, Orthostatic hypotension due to autonomic dysfu... |
ORPHA:330001 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Nephropathy, Gout, Focal segmental glomerulosclerosis, Renal cyst, Vascul... |
OMIM:617056 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Increased circulating surfactant protein level, Hematuria, Ground-glass opacificati... |
ORPHA:60025 |
Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin... |
OMIM:615244 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Failure to thrive, Hepatomegaly, Coma, Cerebellar hemorrhage, Hyperammonemi... |
OMIM:251000 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Gingival overgrowth, Atrial septal defect, Joint contracture of th... |
OMIM:179613 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Arteriovenous malformation, Narrow palate, Thyroid carcinoma, Abnormal large int... |
ORPHA:109 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Premature ventricular contraction, Coma, Hyperammonemia, Elevated circulating creat... |
OMIM:212138 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Atrial septal defect, Hepatomegaly, Respiratory insufficiency, ... |
ORPHA:90308 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macular dystrophy, Episodic hemolytic anemia, Abnormal retinal morphology on macular OCT, Increas... |
ORPHA:251004 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Atrioventricular canal defect, Short neck, Congenital hip dislocation, Vent... |
ORPHA:508488 |
D-Glyceric Aciduria |
|
Failure to thrive, Aminoaciduria, Micropenis, Optic nerve hypoplasia, Patent ductus arteriosus, N... |
OMIM:220120 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Abnormal social behavior, Myoclonus, Rigidity, Optic atrophy, Gait d... |
ORPHA:391417 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Posteriorly placed anus, Hepatomegaly, Atrioventricular canal defect, Conge... |
OMIM:306955 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Abnormal mitral valve morphology, Abnormal pulmonary valve morphology, Crypt... |
ORPHA:500 |
Preeclampsia |
|
Chronic kidney disease, Small for gestational age, Abnormality of the kidney, Elevated systolic b... |
ORPHA:275555 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... |
ORPHA:1354 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Splenomegaly, Intestinal malrotation, Respiratory insufficiency, Short neck, Cystic... |
OMIM:269860 |
Propionic Acidemia |
|
Failure to thrive, Apnea, Neutropenia, Hyperglycinuria, Hepatomegaly, Cerebellar hemorrhage, Hype... |
OMIM:606054 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Airway obstruction, Short neck, Heparan sulfate excretion in urine, Enlarge... |
ORPHA:505248 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Cleft palate, Micrognathia, Sudden cardiac death, Tachycardia, Elevated circulating... |
OMIM:614921 |
Anti-Glomerular Basement Membrane Disease |
|
Pulmonary infiltrates, Persistence of primary teeth, Respiratory insufficiency, Retinal detachmen... |
ORPHA:375 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Patent ductus arteriosus |
OMIM:616501 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Kyphoscoliosis, Sparse eyebrow, Flexion contracture, Severe postnatal growth retardation, Short s... |
ORPHA:35173 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
High palate, Death in early adulthood, Right bundle branch block, Scapuloperoneal amyotrophy, Mus... |
OMIM:255160 |
Pierson Syndrome |
|
Remnants of the hyaloid vascular system, Nephrotic syndrome, Diffuse mesangial sclerosis, Hypopro... |
OMIM:609049 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:610725 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Respiratory failure, Hyper... |
ORPHA:563 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
Hurler Syndrome |
|
Angina pectoris, Hepatomegaly, Macroglossia, Everted lower lip vermilion, Splenomegaly, Retinopat... |
ORPHA:93473 |
Viss Syndrome |
|
High palate, Tortuous cerebral arteries, Chronic gastritis, Celiac disease, Aortic tortuosity, Pu... |
OMIM:619472 |
Nephrotic Syndrome, Type 23 |
|
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... |
OMIM:619201 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... |
OMIM:618052 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
Patent Ductus Arteriosus 3 |
|
Patent ductus arteriosus |
OMIM:617039 |
Patent Ductus Arteriosus 1 |
|
Patent ductus arteriosus |
OMIM:607411 |
Rift Valley Fever |
|
Melena, Miscarriage, Hematemesis, Abnormal bleeding, Macular edema, Retinal hemorrhage, Hematuria... |
ORPHA:319251 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Craniosynostosis, Ventricular septal defect, Double outlet right ventricle, Retrogn... |
OMIM:301056 |
Oculorenocerebellar Syndrome |
|
Nephropathy, Retinal degeneration, Glomerular sclerosis |
OMIM:257970 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Abnormal cardiac septum morphology, Apnea, Cleft palate, Optic atrophy, Urinary r... |
ORPHA:97297 |
Primary Lipodystrophy |
|
Angina pectoris, Hyperlipidemia, Type II diabetes mellitus, Splenomegaly, Skeletal muscle hypertr... |
ORPHA:90970 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Abn... |
ORPHA:57777 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Elevated circul... |
OMIM:615351 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
High palate, Failure to thrive, Respiratory distress, Hypospadias, Cerebellar atrophy, Pulmonary ... |
OMIM:619272 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... |
ORPHA:3361 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Decreased glomerular filtration rate, Hematuria, Enlarged ... |
ORPHA:730 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... |
ORPHA:329918 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Sparse hair, Brittle hair, Short stature, Camptodactyly of finger, Coarse hair, Scolios... |
ORPHA:1883 |
Nephrotic Syndrome, Type 4 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... |
OMIM:256370 |
Cerebellar-Facial-Dental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Limb hypertonia, Short neck, Ventricular sept... |
ORPHA:444072 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
High palate, Cleft palate, Bidirectional ventricular ectopy, Hypoplasia of the maxilla, Prolonged... |
OMIM:170390 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Abscess, Myocarditis, Elevated circulating creatinine concentration, Pneumo... |
ORPHA:36234 |
Distal Tetrasomy 15Q |
|
High palate, Hydrocele testis, Atrial septal defect, Flexion contracture, Craniosynostosis, Retro... |
ORPHA:314588 |
Juvenile Primary Lateral Sclerosis |
|
Gait imbalance, Abnormal pyramidal sign, Spastic dysarthria, Abnormal upper motor neuron morpholo... |
ORPHA:247604 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... |
OMIM:620049 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Melena, Decreased glomerular filtration rate, Hematuria, Hyperkalemia, Elev... |
ORPHA:340 |
Encephalocraniocutaneous Lipomatosis |
|
Tricuspid valve prolapse, Aortic valve stenosis, Retinopathy, Coarctation of aorta, Iris coloboma... |
ORPHA:2396 |
Nephrotic Syndrome, Type 21 |
|
Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... |
OMIM:618594 |
Zygomycosis |
|
Melena, Gastritis, Myocarditis, Hematochezia, Acute infectious pneumonia, Rhinorrhea, Gastrointes... |
ORPHA:73263 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinu... |
ORPHA:656 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Failure to thrive, Gray matter heterotopia, Atrial septal defect, Pachygyria, Unilateral renal ag... |
OMIM:620024 |
Cockayne Syndrome Type 1 |
|
Widely spaced primary teeth, Hepatomegaly, Progeroid facial appearance, Abnormality of the dentit... |
ORPHA:90321 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Coma, Hyperammonemia, Leukopenia, Respiratory insufficiency, Macrocytic anemia, Opt... |
ORPHA:27 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... |
OMIM:601419 |
Maternally-Inherited Diabetes And Deafness |
|
Malabsorption, Macular dystrophy, Type II diabetes mellitus, Abnormal circulating lipid concentra... |
ORPHA:225 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Respiratory insufficiency, Cerebellar atrophy, Hyperalaninemia, Bra... |
OMIM:614654 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Coarctation of aorta, Abnormal cardiac septum morphology |
OMIM:601612 |
Lethal Congenital Contracture Syndrome 5 |
|
Flexion contracture, Small for gestational age, Respiratory insufficiency, Elevated circulating c... |
OMIM:615368 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Recurrent infections due to aspiration, Abnormal renal physiology,... |
OMIM:223900 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis |
OMIM:614650 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia |
OMIM:194350 |
Farber Disease |
|
Respiratory distress, Macular degeneration, Skeletal muscle atrophy, Lymphadenopathy, Joint swell... |
ORPHA:333 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti... |
ORPHA:79444 |
Pauci-Immune Glomerulonephritis |
|
Abnormality of the pulmonary vasculature, Nephrotic range proteinuria, Decreased glomerular filtr... |
ORPHA:93126 |
Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Anal atresia, Tooth agenesis, Midshaft hypospadias, Renal hypoplasia/aplasia, Crypto... |
ORPHA:2863 |
Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... |
OMIM:618176 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Urticaria, Cutis marmorata, Hematuria, Myocarditis, Abnormal pleura morphology, Myocardial infarc... |
ORPHA:183 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Hiatus hernia, Tracheoesophageal fistula, Horseshoe kidney, Elbow dislocation, Peri... |
ORPHA:2538 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... |
OMIM:616892 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... |
OMIM:613759 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Cerebral atrophy, Progressive proximal muscle weakness, Hyperkinetic movements, Truncal ataxia, C... |
ORPHA:369847 |
Idiopathic Congenital Hypothyroidism |
|
Decreased circulating T4 concentration, Macroglossia, Large posterior fontanelle, Delayed cranial... |
ORPHA:95717 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Myopathy, Oligohydramnios, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Atrial Septal Defect, Ostium Primum Type |
|
Airway obstruction, Systolic heart murmur, Right bundle branch block, Abnormal respiratory system... |
ORPHA:99106 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Meningococcal Meningitis |
|
Petechiae, Stroke, Elevated circulating C-reactive protein concentration, Papilledema, Abnormalit... |
ORPHA:33475 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Splenomegaly, Hemophagocytosis, Pancytopenia |
OMIM:300635 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Loss of consciousness, Excessive i... |
ORPHA:276575 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Stroke, Subdural hemorrhage, Retinal degeneration, Delirium, Optic atrophy,... |
ORPHA:79282 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydrocele testis, Elevated circulating C-reactive protein concentration, Rheumatoid arthritis, He... |
ORPHA:49041 |
Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
Infantile Sialic Acid Storage Disease |
|
High palate, Failure to thrive, Gingival overgrowth, Nephrotic syndrome, Hepatomegaly, Vacuolated... |
OMIM:269920 |
Lethal Congenital Contracture Syndrome 7 |
|
Facial diplegia, Cerebral atrophy, Paralysis, Knee flexion contracture, Arthrogryposis multiplex ... |
OMIM:616286 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Inability to walk, Clumsiness, Myoclonus, Scoliosis, Lower limb muscle weakness, Limb myoclonus, ... |
ORPHA:2590 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal pulse pressure, Delirium, Prolonged QT interval, Abnormal T-wave, Abnormal bleeding, Ele... |
ORPHA:466650 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:301028 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:616893 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... |
OMIM:618178 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Distal Monosomy 15Q |
|
Abnormal cardiac septum morphology, Double outlet right ventricle with doubly committed ventricul... |
ORPHA:1596 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Parkinsonism |
OMIM:600274 |
Amaurosis-Hypertrichosis Syndrome |
|
Thick eyebrow, Coarse hair, Optic atrophy, Abnormal eyelash morphology, Synophrys |
ORPHA:1021 |
Wiskott-Aldrich Syndrome |
|
Urticaria, Sudden cardiac death, Hematochezia, Spontaneous hematomas, Prolonged bleeding time, Re... |
ORPHA:906 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to gluc... |
ORPHA:276580 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... |
OMIM:161900 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Torsade de pointes, Ketonuria, Hyperammonemia, ... |
OMIM:616878 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Broad-based gait, Ataxia, Pulmonary infiltrates, Cystic p |