Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Distal arthrogryposis, Decreased muscle mass, Respiratory insufficiency, Arthrogryposis multiplex... |
OMIM:208081 |
Brachydactyly, Type C |
|
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... |
OMIM:113100 |
Syndactyly Type 2 |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... |
ORPHA:93403 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal heart morphology, Stillbirth, Abnormal thorax morphology, Syndactyly, Upper... |
ORPHA:294975 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Limited elbow flexion, Pelvic girdle muscle weakness, Abnormal respiratory system physiology, Res... |
ORPHA:266 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... |
ORPHA:563 |
Spinal Muscular Atrophy, Type I |
|
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Respirat... |
OMIM:253300 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flared humeral metaphysis, Respiratory insufficiency, Lon... |
OMIM:156530 |
Sternum, Premature Obliteration Of Sutures Of |
|
Short sternum, Abnormal heart morphology, Micrognathia, Premature sternal synostosis |
OMIM:184800 |
Lethal Congenital Contracture Syndrome 3 |
|
Skeletal muscle atrophy, Respiratory insufficiency, Neonatal death, Arthrogryposis multiplex cong... |
OMIM:611369 |
Multiple Synostoses Syndrome 1 |
|
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... |
OMIM:186500 |
Bardet-Biedl Syndrome 1 |
|
Foot polydactyly, Micropenis, Syndactyly, Nephrogenic diabetes insipidus, Diabetes mellitus, Hype... |
OMIM:209900 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Syncope, Right ventricular dilatation, Palpitations, Elevated jugular venous pressu... |
ORPHA:422 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Syncope, Abnormal EKG, Abnormal left ventricular function, Aortic valve st... |
ORPHA:2041 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cystic renal dysplasia, Truncus arteriosus, Pulmonary ... |
OMIM:615415 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Renal agenesis, Talipes equinovarus, Renal dysplasia, Vaginal atresia, Bicornuate u... |
OMIM:191830 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pulmonary lymphangiectasia, Hepatomegaly, Ventricular septal defect, Hydronephrosis, Ascites, Pol... |
ORPHA:1655 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hypoplastic labia majora, Fused labia minora, Femoral bowing, Rocker bottom foot, Narrow pelvis b... |
OMIM:207410 |
Familial Dilated Cardiomyopathy |
|
Right ventricular dilatation, Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, ... |
ORPHA:217607 |
Dysosteosclerosis |
|
Short ribs, Absent frontal sinuses, Progressive bowing of long bones, Abnormal metaphyseal trabec... |
OMIM:224300 |
Synpolydactyly 1 |
|
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... |
OMIM:186000 |
Ethanolaminosis |
|
Death in infancy, Cardiomegaly |
OMIM:227150 |
Meckel Syndrome, Type 1 |
|
Ambiguous genitalia, female, Splenomegaly, Ambiguous genitalia, male, Accessory spleen, Adrenal h... |
OMIM:249000 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Overgrowth, Small for gestational age, Abnormal heart morphology, Poly... |
ORPHA:254534 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Pectus carinatum, Short finger, Tapered finger, Respiratory insufficiency, Knee ... |
OMIM:313420 |
Mosaic Trisomy 16 |
|
Hypospadias, Horseshoe kidney, Ventricular septal defect, Maternal diabetes, Preeclampsia, Intrau... |
ORPHA:1708 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Micrognathia, Skeletal muscle atrophy, Talipes equinovarus, Hand clenching, Respiratory insuffici... |
OMIM:618291 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Pectus excavatum, Respiratory insufficiency, Talipes equinovarus, Facial palsy, Respiratory failu... |
OMIM:614399 |
Meacham Syndrome |
|
Anomalous pulmonary venous return, Hydrometrocolpos, Aortic valve stenosis, Ventricular septal de... |
ORPHA:3097 |
Hydatidiform Mole |
|
Preeclampsia, Enlarged uterus, Spontaneous abortion, Menometrorrhagia, Hyperthyroidism |
ORPHA:99927 |
Trichohepatoenteric Syndrome 1 |
|
Hypospadias, Abnormalities of placenta or umbilical cord, Large placenta, Jaundice, Ventricular s... |
OMIM:222470 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Ascites, Nephrotic syndrome, Failure to thrive, Premature birth, Vacuolated lymphoc... |
OMIM:269920 |
Hemochromatosis, Type 2B |
|
Secondary amenorrhea, Hepatomegaly, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Hypog... |
OMIM:613313 |
Asbestos Intoxication |
|
Wheezing, Cor pulmonale, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive... |
ORPHA:2302 |
Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypo... |
OMIM:602390 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Polydactyly, Lateral clavicle hook, Brachydactyly |
OMIM:617405 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Hepatomegaly, Pericardial effusion, Tachypnea, Right ventricular hypertrophy, Prematur... |
ORPHA:555874 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Ventricular septal defect, Truncus arteriosus, Respiratory insufficiency, Neonatal ... |
OMIM:228940 |
Atrial Septal Defect, Ostium Primum Type |
|
Left atrial enlargement, Syncope, Third heart sound, Clubbing of toes, Clubbing of fingers, Abnor... |
ORPHA:99106 |
Congenital Radioulnar Synostosis |
|
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... |
ORPHA:3269 |
Lethal Congenital Contracture Syndrome 4 |
|
Distal arthrogryposis, Skeletal muscle atrophy, Respiratory insufficiency, Flexion contracture, M... |
OMIM:614915 |
Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Achilles tendon contracture, Facial palsy, Shoulder girdle muscle... |
OMIM:604801 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... |
OMIM:186200 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Telangiectasia, Amenorrhea, Azoospermia, Ascites, Hepatocellula... |
OMIM:235200 |
Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
Alg9-Cdg |
|
Broad ischia, Talipes equinovarus, Abnormal left ventricular outflow tract morphology, Hypoplasia... |
ORPHA:79328 |
Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... |
ORPHA:99105 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Talipes equinovarus, Rocker bottom foot, Hand clenching, Facial diplegia... |
OMIM:611890 |
Fibrodysplasia Ossificans Progressiva |
|
Broad femoral neck, Hallux valgus, Ectopic ossification in muscle tissue, Respiratory insufficien... |
OMIM:135100 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Micrognathia, Abnormal muscle fiber morphology, Adducted thumb, Torticollis, Generalized amyotrop... |
ORPHA:75840 |
Endocardial Fibroelastosis |
|
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy, Cryptorchidism |
OMIM:226000 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Limb muscle weakness, Hypoplasia of the capital femoral epiphysis, Respiratory failure, Hand musc... |
OMIM:600561 |
Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Respiratory insufficiency, Flexion contracture, Respiratory failure, Spi... |
OMIM:616081 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Nonspecif... |
OMIM:610921 |
Nemaline Myopathy 8 |
|
Death in infancy, Myofibrillar myopathy, Facial palsy, Flexion contracture, Respiratory failure, ... |
OMIM:615348 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Intrauterine growth retardation, Failure to thrive, Ventricular hypertrophy, Bradyc... |
OMIM:619048 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory insufficiency, Apnea, Muscular dystrophy, Flexion contracture, Respiratory failure |
OMIM:613869 |
Renal Dysplasia-Limb Defects Syndrome |
|
Fibular aplasia, Micrognathia, Intrauterine growth retardation, Thin ribs, Talipes equinovarus, P... |
OMIM:266910 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Horseshoe kidney, Short clavicles, Atrioventricular canal defect, Short long bone, ... |
OMIM:617088 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypertrophic cardiomyopathy, Hypospadias, Hepatomegaly, Death in infancy, Intrauterine growth ret... |
ORPHA:1194 |
Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Restrictive cardiomyopathy, Sandal gap, Congestive heart failure, Ant... |
ORPHA:2022 |
Tarp Syndrome |
|
Micrognathia, Pectus excavatum, Intrauterine growth retardation, Talipes equinovarus, Postaxial p... |
OMIM:311900 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Portal hypertension, Hepatomegaly, Hypertension, Pancreatic cysts, Neonatal death, Hepatic cysts,... |
OMIM:263200 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Thoracic hypoplasia, Horizontal ribs, Ventricular septal defect, Lateral clavicle hook, Postaxial... |
OMIM:617895 |
Nephronophthisis 16 |
|
Hypertrophic cardiomyopathy, Hepatic fibrosis, Situs inversus totalis, Nephronophthisis, Pulmonic... |
OMIM:615382 |
Aa Amyloidosis |
|
Hepatomegaly, Adrenal insufficiency, Nephrotic syndrome, Abnormality of the kidney, Abnormal hear... |
ORPHA:85445 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Adducted thumb, Neonatal death, Arthrogryposis multiplex congenita, Increased v... |
OMIM:619334 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Hepatosplenomegaly, Short 1st ... |
ORPHA:96334 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis, C... |
OMIM:618234 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Long-chain dicarboxylic aciduria, Elbow flexion contracture, Hepatic calc... |
OMIM:608836 |
Hyperekplexia 4 |
|
Distal arthrogryposis, Adducted thumb, Talipes equinovarus, Flexion contracture, Camptodactyly, R... |
OMIM:618011 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Missing ribs, Vaginal atresia, Aplasia/H... |
ORPHA:3301 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cholangiocarcinoma, Splenomegaly, Diabetes mellitus, Portal hypertension, Infertility, Hypogonado... |
ORPHA:465508 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Glomeru... |
OMIM:613496 |
Meacham Syndrome |
|
Bicuspid aortic valve, Death in infancy, Neonatal death, Accessory spleen, Septate vagina, Blind ... |
OMIM:608978 |
Mucopolysaccharidosis-Plus Syndrome |
|
Neutropenia, Splenomegaly, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Nephrot... |
OMIM:617303 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death, Intrauterine growth retardation |
OMIM:301021 |
Beckwith-Wiedemann Syndrome |
|
Congenital megaureter, Splenomegaly, Nephropathy, Hypercalciuria, Large placenta, Umbilical herni... |
ORPHA:116 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Ascites, Abnormality of the menstrual cycle, Abnormal tricuspid valve morphology, E... |
ORPHA:90308 |
Meckel Syndrome 12 |
|
Renal hypoplasia, Renal agenesis, Intrauterine growth retardation, Rocker bottom foot, Vaginal at... |
OMIM:616258 |
Placental Insufficiency |
|
Eclampsia, Preeclampsia, Intrauterine growth retardation, Maternal hypertension, Spontaneous abor... |
ORPHA:439167 |
Bronchopulmonary Dysplasia |
|
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... |
ORPHA:70589 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Pelvic girdle muscle weakness, Myofibrillar myopathy, Achilles tendon contracture, Shoulder girdl... |
OMIM:603689 |
Sandhoff Disease |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Congestive heart failure, Recurrent respiratory in... |
ORPHA:796 |
Mckusick-Kaufman Syndrome |
|
Hydronephrosis, Pulmonary hypoplasia, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, E... |
OMIM:236700 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... |
OMIM:601493 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cor pulmonale, Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Rec... |
OMIM:263000 |
Rudiger Syndrome |
|
Death in infancy, Bicornuate uterus, Micropenis, Flexion contracture, Short digit, High axial tri... |
OMIM:268650 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Tachypnea... |
OMIM:265120 |
Retinitis Pigmentosa 59 |
|
Hepatomegaly, Intrauterine growth retardation, Failure to thrive, Micropenis, Cystoid macular ede... |
OMIM:613861 |
Mulibrey Nanism |
|
Hepatomegaly, Pericardial constriction, Intrauterine growth retardation, Ascites, Thickened corte... |
OMIM:253250 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular hypertrophy, Right ventricular dilatation, Pneumonia |
OMIM:253700 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Nonimmune hydrops fetalis, Death in infancy, Intrauterine growth retardation, Cardi... |
OMIM:608540 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:79281 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Dysphagia, Myopathy, Ragged-red muscle fibers, Weakness of facial muscula... |
ORPHA:352447 |
Marshall-Smith Syndrome |
|
Pectus excavatum, Recurrent aspiration pneumonia, Obstructive sleep apnea, Large sternal ossifica... |
OMIM:602535 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency |
OMIM:611722 |
Nephronophthisis 2 |
|
Pulmonary insufficiency, Hypertension, Chronic tubulointerstitial nephritis, Situs inversus total... |
OMIM:602088 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Skeletal muscle hypertrophy, Facial palsy, Reduced muscle fiber alpha ... |
ORPHA:370968 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Death in infancy, Cardiomyopathy |
OMIM:212080 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Cough, Upper limb muscle weakness, Respiratory failure, Dyspnea, Respiratory failure requiring as... |
ORPHA:90117 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Hypospadias, Microvesicular hepatic steatosis, Prolonged QT interval, Non... |
OMIM:610198 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Multi... |
ORPHA:171433 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... |
OMIM:610913 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormality of blood circulation, Levotransposition of the great arteries, Anomalous pulmonary ve... |
ORPHA:860 |
Bardet-Biedl Syndrome 5 |
|
Polydactyly, External genital hypoplasia, Hypogonadism, Micropenis, Syndactyly, Brachydactyly |
OMIM:615983 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... |
ORPHA:261529 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Aplasia of the uterus, Hypoparathyroidism, Hydronephrosis, Abnormal heart morphology, Renal dyspl... |
ORPHA:2237 |
Vaginal Atresia |
|
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... |
ORPHA:65681 |
Short Rib-Polydactyly Syndrome |
|
Hypospadias, Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Urogenital sinu... |
ORPHA:1505 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... |
ORPHA:99103 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Endocardial fibrosis |
OMIM:613255 |
Oocyte Maturation Defect 9 |
|
Zygotic cleavage failure, Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Apert Syndrome |
|
Cutaneous finger syndactyly, Cervical C5/C6 vertebrae fusion, Broad distal hallux, Ventricular se... |
OMIM:101200 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Intrauterine gro... |
OMIM:612863 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pulmonary hypoplasia, Asplenia, Hepatic fibrosis, Pancreatic cysts, Bile duct proli... |
OMIM:208540 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Pericardial effusion, Pancreatic cysts, Abnormality of femur morphology, Sub... |
ORPHA:464329 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Cardiac myxoma, Ascites, Cardiomegaly, Tricuspid regurgitation, Jaundice,... |
ORPHA:615 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Hypertension, Infertility, Type II diabetes mellitus, Azoospermia, Myocardial infar... |
OMIM:615703 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... |
OMIM:613424 |
Congenital Generalized Lipodystrophy |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Precocious puberty in females, Oligomenorrhea, Amenorr... |
ORPHA:528 |
Lethal Osteosclerotic Bone Dysplasia |
|
Micrognathia, Intrauterine growth retardation, Mandibular aplasia, Respiratory distress, Respirat... |
ORPHA:1832 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Obesity |
OMIM:615989 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Abnormal vagina morphology, Ascites, Premature birth, Anemia, Polyhydramnios, Renal... |
ORPHA:2123 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Myopathy, Respiratory insufficiency due to muscle weakness, Facial palsy,... |
OMIM:300580 |
Loeffler Endocarditis |
|
Left atrial enlargement, Eosinophilia, Aortic valve stenosis, Pericarditis, Mitral regurgitation,... |
ORPHA:75566 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Multi... |
OMIM:616867 |
Tarp Syndrome |
|
Micrognathia, Pectus excavatum, Intrauterine growth retardation, Rocker bottom foot, Postaxial po... |
ORPHA:2886 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Intrauterine growth retardation, Ascites, Premature b... |
ORPHA:858 |
Jeune Syndrome |
|
Toe syndactyly, Aplasia/Hypoplasia of the lungs, Cone-shaped epiphysis, Respiratory insufficiency... |
ORPHA:474 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Preeclampsia, Pericarditis, Anemia, Abnormal hemoglobin, Polyhydramnios, Splenomega... |
ORPHA:163596 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Lateral clavicle hook, Respiratory insufficiency, Postaxial polydactyly, Narrow ... |
OMIM:615633 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... |
ORPHA:93405 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Premature ventricular contraction, Right ventricular dilatation, Ventricular tachycardia, Palpita... |
OMIM:618920 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Edema, Palmoplantar keratoderma, Cardiomyocyte h... |
OMIM:605676 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Atrioventricular canal defect, Urethral atresia, Proximal placement of thumb, Abs... |
OMIM:314390 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly, Renal cyst, Hypogonadism, Obesity, Renal insufficiency, Abnormality of the kidney |
OMIM:615987 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy, Congenital contracture |
OMIM:225753 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Micropenis, Obesity, Cryptorchidism, Hypoplasia of penis |
ORPHA:85274 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Abnormality of the shoulder girdle musculature, Left ventricular hypertro... |
ORPHA:206546 |
Cardiomyopathy, Dilated, 1J |
|
Dilated cardiomyopathy, Abnormal left ventricular function, Congestive heart failure, Sudden card... |
OMIM:605362 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... |
ORPHA:168563 |
Vacterl Association With Hydrocephalus |
|
Radial club hand, Respiratory insufficiency, Abnormal heart morphology, Stillbirth, Absent thumb,... |
OMIM:276950 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertrophic cardiomyopathy, Secondary amenorrhea, Eclampsia, Maternal diabetes, Dysmenorrhea, Ol... |
ORPHA:79083 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Respiratory distress, Cyanosis, Myopathy |
ORPHA:91130 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly, Congestive heart failure |
OMIM:618654 |
Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Respiratory distress, External genital hypoplasia |
OMIM:615993 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Dysphagia, Obstructive sleep apnea, Abnormal reproductive system mor... |
ORPHA:70472 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Ascites, Pulmonary arterial hypertension, Tricuspid regurgitation... |
ORPHA:2414 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Hallux valgus, Pectus excavatum, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping ... |
OMIM:618167 |
Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia |
OMIM:267400 |
Babesiosis |
|
Hepatomegaly, Leukopenia, Clinodactyly of the 5th toe, Splenomegaly, Myocardial infarction, Conge... |
ORPHA:108 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Premature birth, Abnormal tricuspid valve morphology, Maternal diabetes |
ORPHA:1208 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Restrictive ventilatory defect, Skeletal muscle atrophy, Weakness of the... |
ORPHA:98913 |
Greenberg Dysplasia |
|
Epiphyseal stippling, Neonatal death, Short ribs, Abnormal bone structure, Multiple prenatal frac... |
OMIM:215140 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Hypoplastic left atrium, Congenital diaphragmatic hernia, Bicornuate u... |
OMIM:615524 |
Severe Congenital Nemaline Myopathy |
|
Hypospadias, Skeletal muscle atrophy, Adducted thumb, Thin ribs, Facial diplegia, Facial palsy, A... |
ORPHA:171430 |
Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, External genital hypoplasia, Hypogonadism, Atrial ... |
OMIM:615981 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Polydactyly, External genital hypoplasia, Renal cyst, Syndactyly, Diabetes mellitus,... |
OMIM:605231 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Decreased carnitine level in liver, Failure to thrive,... |
OMIM:212140 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... |
OMIM:300510 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Ventricular arrhythmia, Third heart sound, Pulmonary edema, Jaundice, Gl... |
ORPHA:57777 |
Santos Syndrome |
|
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... |
OMIM:613005 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Death in infancy, Abnormal mitral valve morphology, Abnormal tricuspid... |
ORPHA:1354 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Ankle flexion contracture, Skeletal muscle atrophy, Hip contracture, Abnormal heart morphology, R... |
ORPHA:1143 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Long palm, Missing ribs, Arachnodactyly, Respiratory distress, Recurrent respiratory infections, ... |
ORPHA:2759 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypospadias, Dysmenorrhea, Bifid scrotum, Small for gestational age, Polydactyly, Intrauterine gr... |
ORPHA:397590 |
Turnpenny-Fry Syndrome |
|
Torticollis, Recurrent respiratory infections, Long thorax, Intrauterine growth retardation, Pect... |
OMIM:618371 |
Otopalatodigital Syndrome, Type Ii |
|
Nonossified fifth metatarsal, Hypospadias, Undulate clavicles, Short metatarsal, Short ribs, Broa... |
OMIM:304120 |
Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... |
ORPHA:330001 |
Acropectoral Syndrome |
|
Pectus excavatum, Triphalangeal thumb, Pectus carinatum, Preaxial polydactyly, Partial duplicatio... |
OMIM:605967 |
Restrictive Dermopathy 1 |
|
Hypospadias, Short umbilical cord, Ureteral duplication, Premature rupture of membranes, Overtubu... |
OMIM:275210 |
Oocyte Maturation Defect 8 |
|
Zygotic cleavage failure, Female infertility |
OMIM:619009 |
Xq27.3Q28 Duplication Syndrome |
|
Intrauterine growth retardation, Failure to thrive, Truncal obesity, Hypogonadism, Premature ovar... |
ORPHA:261483 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Abnormal lung lobation, Short long bone, Abnormal heart morphology, ... |
OMIM:263210 |
Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia |
OMIM:609909 |
Diethylstilbestrol Syndrome |
|
Testicular dysgenesis, Hypospadias, Central apnea, Preeclampsia, Abnormal reproductive system mor... |
ORPHA:1916 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertrophic cardiomyopathy, Secondary amenorrhea, Eclampsia, Hepatomegaly, Dysmenorrhea, Polycys... |
ORPHA:2348 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Hydronephrosis, Intrauterine growth retardation, Polyhydramnios, Wrist flexion contracture, Long ... |
ORPHA:254528 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function |
ORPHA:217622 |
Orofaciodigital Syndrome Iii |
|
Short sternum, Pectus excavatum, Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:258850 |
Isolated Right Ventricular Hypoplasia |
|
Right ventricular failure, Systolic heart murmur, Bidirectional shunt, Right bundle branch block,... |
ORPHA:439 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb |
OMIM:174200 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Intrauterine growth retardation, Polydactyly, Camptodactyly, Joint laxity |
OMIM:614815 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Ventricular septal defect, Death in infancy, Epiphyseal stippling, Elevated circula... |
OMIM:614876 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Sex reversal, Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers... |
OMIM:612651 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Neonatal death, Apnea, Split hand, Respiratory failure |
OMIM:610127 |
Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Transposition of the... |
ORPHA:1209 |
H Syndrome |
|
Facial telangiectasia, Hallux valgus, Amenorrhea, Azoospermia, Bronchiectasis, Abnormality of the... |
ORPHA:168569 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Diaphanospondylodysostosis |
|
Cystic renal dysplasia, Intrauterine growth retardation, Talipes equinovarus, Hammertoe, Narrow p... |
OMIM:608022 |
Cardiac-Urogenital Syndrome |
|
Dextrocardia, Patent urachus, Ventricular septal defect, Aplasia of the uterus, Bifid scrotum, Dy... |
OMIM:618280 |
Cardiomyopathy, Dilated, 1L |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:606685 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:604765 |
Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Syncope, Congestive heart failure |
OMIM:613694 |
Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Syncope, Congestive heart failure |
OMIM:613697 |
Barth Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Neutropenia, Talipes equinovarus, Failure to... |
OMIM:302060 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hypertension, Left ventricular hypertrophy, Congestive heart failure, Diabetes mellitus, Wolff-Pa... |
OMIM:540000 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertrophic cardiomyopathy, Hypertension, Type II diabetes mellitus, Congestive heart failure, G... |
ORPHA:225 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Myopathy, Skeletal muscle atrophy, Respiratory insufficiency, Weakness of facial musculature, Res... |
ORPHA:254875 |
Prune Belly Syndrome |
|
Talipes equinovarus, Urogenital sinus anomaly, Recurrent respiratory infections, Abnormality of t... |
ORPHA:2970 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Dysmenorrhea, Premature birth, Metrorrhagia, Uterus didelphys, Dyspareunia, Partial ... |
ORPHA:3411 |
Scedosporiosis |
|
Sinusitis, Arthralgia/arthritis, Bronchial breath sound, Pericarditis, Abnormal respiratory syste... |
ORPHA:449280 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Respiratory insufficiency, Decreased fetal movement, Rimmed vacuoles, Skeletal muscle autophagoso... |
OMIM:619518 |
Perching Syndrome |
|
Respiratory distress, Dysphagia, Flexion contracture, Camptodactyly |
OMIM:617055 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Pericardial effusion, Bronchiecta... |
ORPHA:79126 |
Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... |
OMIM:600884 |
Primary Ciliary Dyskinesia |
|
Wheezing, Pulmonary situs ambiguus, Neonatal respiratory distress, Recurrent sinopulmonary infect... |
ORPHA:244 |
Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Right ventricular dilatation, Pneumonia,... |
ORPHA:99104 |
Hand-Foot-Genital Syndrome |
|
Hypospadias, Ventricular septal defect, Recurrent urinary tract infections, Spontaneous abortion,... |
ORPHA:2438 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Death in infancy, Respiratory ... |
OMIM:614299 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Intrauterine growth retardation, Ascites, Talipes equinovarus, Failure to thrive, A... |
OMIM:608104 |
Scarf Syndrome |
|
Pectus carinatum, Craniosynostosis, Short sternum, Diastasis recti, Joint hyperflexibility |
ORPHA:3134 |
Polydactyly, Preaxial Iv |
|
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... |
OMIM:174700 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Intrauterine growth retardation, Talipes equinovarus, Limb muscle weakness, Tachypnea, Ventilator... |
OMIM:604320 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Cough, Card... |
ORPHA:86812 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Momo Syndrome |
|
Abnormal bone ossification, Large hands, Congenital pseudoarthrosis of the clavicle, Short sternu... |
ORPHA:2563 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Oli... |
OMIM:617713 |
Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Quadriceps muscle weakness, Restrictive ventilatory defect, Respir... |
ORPHA:70 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Syncope, Mitral regurgi... |
ORPHA:3092 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Bicuspid aortic valve, Neonatal respiratory distress, Dysplastic tricuspid valve, Ne... |
OMIM:265380 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Hypertension, Abnormal nephron morpholog... |
ORPHA:93108 |
Carvajal Syndrome |
|
Dilated cardiomyopathy, Patchy palmoplantar hyperkeratosis, Congestive heart failure |
ORPHA:65282 |
Autosomal Dominant Polycystic Kidney Disease |
|
Hypertension, Mitral valve prolapse, Pancreatic cysts, Reduced sperm motility, Pituitary growth h... |
ORPHA:730 |
Cardiomyopathy, Dilated, 1Kk |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... |
OMIM:615248 |
Cardiomyopathy, Dilated, 1Dd |
|
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death |
OMIM:613172 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Neonatal respiratory distress, Intrauterine growth retardation, Aspiration p... |
OMIM:619057 |
Epilepsy, Pyridoxine-Dependent |
|
Respiratory distress, Neonatal respiratory distress, Fetal distress, Prenatal movement abnormality |
OMIM:266100 |
Alstrom Syndrome |
|
Dilated cardiomyopathy, Tubulointerstitial nephritis, Insulin-resistant diabetes mellitus, Hypert... |
OMIM:203800 |
Idiopathic Pulmonary Hemosiderosis |
|
Restrictive ventilatory defect, Hepatomegaly, Crackles, Cardiomegaly, Cough, Respiratory failure,... |
ORPHA:99931 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Hypospadias, Ventricular septal defect, Hydronephrosis, Intrauterine... |
OMIM:616897 |
Maternal Uniparental Disomy Of Chromosome X |
|
Rocker bottom foot, Azoospermia, Cubitus valgus, Ambiguous genitalia, Gonadal tissue inappropriat... |
ORPHA:261519 |
Fraser Syndrome 1 |
|
Hypospadias, Cutaneous finger syndactyly, Renal hypoplasia, Myelomeningocele, Aplasia/Hypoplasia ... |
OMIM:219000 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Dilated cardiomyopathy, Hepatomegaly, Nonimmune hydrops fetalis, Fetal akinesia sequence, Ascites... |
ORPHA:367 |
Ulbright-Hodes Syndrome |
|
Fibular aplasia, Severe intrauterine growth retardation, Micrognathia, Abnormal forearm bone morp... |
ORPHA:3404 |
Restrictive Dermopathy |
|
Dextrocardia, Hypospadias, Short umbilical cord, Ureteral duplication, Premature delivery because... |
ORPHA:1662 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Respiratory distress, Death in infancy |
OMIM:604377 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Reduced ejection fraction, Angina pectoris, Res... |
ORPHA:85451 |
Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Intrauterine growth retardation, Arrhythmia, Cardiomyopathy |
OMIM:616198 |
Cornelia De Lange Syndrome 1 |
|
Micrognathia, 2-3 toe syndactyly, Hand oligodactyly, Ventricular septal defect, Pneumonia, Phocom... |
OMIM:122470 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Abnormal thyroid morphology, Elevated hepatic iron concentration,... |
ORPHA:139507 |
Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Death in infancy, Intrauterine... |
OMIM:230500 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Long clavicles, Tibial bowing, Aplasia/Hypoplasia of the pubic bone, Hypoplasia of first ribs, Ta... |
OMIM:269150 |
Scarf Syndrome |
|
Pectus carinatum, Short sternum, Diastasis recti, Barrel-shaped chest, Coronal craniosynostosis, ... |
OMIM:312830 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... |
OMIM:612310 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Short greater sciatic notch, Respiratory insufficiency, Wide-cu... |
OMIM:187601 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Paroxysmal atrial tachycardia, Megaloblastic anemia, Atrial septal def... |
ORPHA:49827 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Dysphagia, Myopathy, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic ap... |
OMIM:605809 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Cryptorchidism |
OMIM:309585 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Type ... |
OMIM:254210 |
Distal Monosomy 19P13.3 |
|
Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve atresia, Vaginal hernia, Umb... |
ORPHA:96129 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... |
OMIM:601494 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... |
OMIM:615373 |
Myopathy, Centronuclear, X-Linked |
|
Neonatal respiratory distress, Facial palsy, Arachnodactyly, Diaphragmatic eventration, Flexion c... |
OMIM:310400 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory insufficiency, Limb undergrowth, Short ribs, Narrow chest, Respiratory failure, Thora... |
OMIM:273730 |
Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Abnormal P wave,... |
ORPHA:1329 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Opisthotonus, Right ventricular hypertrophy, Subcutaneous hemorrhage, L... |
ORPHA:335 |
Cardiac Valvular Defect, Developmental |
|
Tricuspid atresia, Mitral valve prolapse, Mitral stenosis, Tricuspid valve prolapse, Urethral div... |
OMIM:212093 |
Hand-Foot-Genital Syndrome |
|
Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Uterus didelphys, Proximal placement of ... |
OMIM:140000 |
Diastrophic Dysplasia |
|
Symphalangism affecting the phalanges of the hand, Proximal placement of thumb, Increased bone mi... |
ORPHA:628 |
Congenital Gerbode Defect |
|
Right ventricular failure, Constrictive pericarditis, Ventricular septal defect, Bacterial endoca... |
ORPHA:99095 |
Pediatric-Onset Graves Disease |
|
Increased circulating T4 level, Goiter, Neutropenia in presence of anti-neutropil antibodies, Spl... |
ORPHA:525731 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... |
OMIM:612964 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Pericardial effusion, Ascites, Ventricular hy... |
OMIM:115197 |
Beckwith-Wiedemann Syndrome |
|
Renal cortical cysts, Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, Gonadobl... |
OMIM:130650 |
Timothy Syndrome |
|
Ventricular septal defect, Prolonged QT interval, Pneumonia, Cardiomegaly, Bradycardia, Syndactyl... |
OMIM:601005 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal spurs, Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyl... |
OMIM:613091 |
Heart-Hand Syndrome Type 2 |
|
Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th... |
ORPHA:1350 |
Cednik Syndrome |
|
Nephrotic syndrome, Hypogonadism, Congestive heart failure, Proteinuria, Diffuse palmoplantar hyp... |
ORPHA:66631 |
Orofaciodigital Syndrome Type 3 |
|
Pectus excavatum, Short sternum, Thoracic kyphosis, Postaxial foot polydactyly, Postaxial hand po... |
ORPHA:2752 |
Coffin-Lowry Syndrome |
|
Broad palm, Pectus excavatum, Pectus carinatum, Tapered finger, Bifid sternum, Narrow iliac wing,... |
OMIM:303600 |
Cyanosis And Hepatic Disease |
|
Cyanosis, Dyspnea |
OMIM:219400 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Gastrointestinal hemorrhage, Aortic valve stenosis, Ventricular septal def... |
ORPHA:363705 |
Carpenter Syndrome |
|
Toe syndactyly, Polydactyly, Talipes equinovarus, Abnormal reproductive system morphology, Extern... |
ORPHA:65759 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Weight loss, Abnormal renal physiology, Cardiomegaly, Cardiomyopathy, Imp... |
ORPHA:85447 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Mitral valve prolapse, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitatio... |
ORPHA:324410 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... |
OMIM:608751 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Dysphagia, Weakness of facial musculature, Tremor |
OMIM:618637 |
Ovarian Dysgenesis 7 |
|
Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus |
OMIM:618117 |
Neuraminidase Deficiency |
|
Hepatomegaly, Ascites, Epiphyseal stippling, Vacuolated lymphocytes, Cardiomegaly, Cardiomyopathy... |
OMIM:256550 |
Myotubular Myopathy With Abnormal Genital Development |
|
Hypospadias, Myopathy, Unilateral cryptorchidism, Bifid scrotum, Death in infancy, Neonatal death... |
OMIM:300219 |
Ovarian Dysgenesis 9 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... |
OMIM:619665 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Tubulointerstit... |
ORPHA:85450 |
Fabry Disease |
|
Hypertension, Abnormality of the hand, Lipiduria, Angina pectoris, Urinary mulberry cells, Anemia... |
OMIM:301500 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Dysphagia, Abnormal pattern of respiration, Cough, Splenomegaly, Respiratory distre... |
ORPHA:77260 |
Camptobrachydactyly |
|
Toe syndactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Se... |
ORPHA:1319 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
OMIM:240900 |
Mucocutaneous Ulceration, Chronic |
|
Vaginal mucosal ulceration |
OMIM:618287 |
Criss-Cross Heart |
|
Ventricular septal defect, Respiratory insufficiency, Tricuspid stenosis, Abnormal mitral valve m... |
ORPHA:1461 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the elbow, Uterus didelphys, Split hand, Abnormality of the wrist, Postaxial hand ... |
ORPHA:2491 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Hypoxemia, Ventricular septal defect, Neonatal respiratory distress, Congenital hypothy... |
OMIM:610978 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis |
OMIM:192600 |
Nemaline Myopathy 5 |
|
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, P... |
OMIM:605355 |
Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Single ventricle, Bilateral lung agenesis, Ventricular septal defect, Renal m... |
OMIM:601186 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Death in infancy, Genu varum, Talipes equinovarus, Phocomelia, Bilateral r... |
OMIM:274000 |
Mucolipidosis Ii Alpha/Beta |
|
Talipes equinovarus, Splenomegaly, Palpebral edema, Short long bone, Flat acetabular roof, Carpal... |
OMIM:252500 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Abnormal skeletal muscle morphology, Internally nucleated... |
ORPHA:98905 |
Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Small placenta, Finger syndactyly, Camptodactyly, Generalized edem... |
OMIM:256520 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular failure, Syncope, Right ventricular dilatation, Abnormal T-wave, Palpitations, ... |
ORPHA:70591 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Mitral valve prolapse, Hypogonadism, Abnormal testis morphology, Obesity, Decreased fertility |
ORPHA:2233 |
Bardet-Biedl Syndrome 4 |
|
Polydactyly, External genital hypoplasia, Renal cyst, Hypogonadism, Syndactyly, Obesity, Cryptorc... |
OMIM:615982 |
Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:613881 |
Cardiomyopathy, Dilated, 2A |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:611880 |
Fraser Syndrome |
|
Hypospadias, Toe syndactyly, Abnormal vagina morphology, Death in infancy, Renal hypoplasia, Myel... |
ORPHA:2052 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Failure to thrive |
OMIM:615440 |
Polymyositis |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Pericarditis, Abnormal mitral ... |
ORPHA:732 |
Acromesomelic Dysplasia 3 |
|
Tarsal synostosis, Fibular aplasia, Talipes equinovarus, Short finger, Short toe, Short phalanx o... |
OMIM:609441 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Respiratory insufficiency, Premature birth, Ebstein anomaly of t... |
ORPHA:1880 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Micropenis, Cryptorchidism, Death in childhood |
OMIM:615597 |
Polycystic Ovary Syndrome 1 |
|
Obesity, Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries |
OMIM:184700 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Short greater sciatic notch, Neonatal respiratory distress, Talipes equinovarus, Broad toe, Short... |
OMIM:312870 |
Myopathy And Diabetes Mellitus |
|
Proximal amyotrophy, Pelvic girdle muscle weakness, Weakness of facial musculature, Skeletal myop... |
ORPHA:2596 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Ectopic ossification in muscle tissue, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:337 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticuloc... |
OMIM:613673 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Ragged-red muscle fibers, Decreased fetal movement, Polyhydramnios |
OMIM:616794 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Metaphyseal dysplasia, Abnormality of femur morphology... |
ORPHA:1842 |
Cholesterol Pneumonia |
|
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis |
OMIM:215030 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Deep palmar crease, Hepatosplenomegaly, Recurrent respiratory infections, Hypertrophic cardiomyop... |
ORPHA:505248 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation |
ORPHA:369847 |
Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Micrognathia, Ventricular septal defect, Intrauterine growth retardation, Adducted th... |
OMIM:617022 |
Pulmonary Alveolar Microlithiasis |
|
Testicular microlithiasis, Mitral valve calcification, Pleural thickening, Exertional dyspnea, Re... |
ORPHA:60025 |
Primary Lipodystrophy |
|
Hypertension, Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia, Cardiomyopathy, Sp... |
ORPHA:90970 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Abnormal thorax morphology, Respiratory tract infection, Pulmona... |
ORPHA:70587 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Aplasia/Hypoplasia of the lungs, Triphalangeal thumb, Respiratory insuffic... |
ORPHA:1120 |
Transaldolase Deficiency |
|
Telangiectasia, Biventricular hypertrophy, Edema, Anemia, Cirrhosis, Hepatosplenomegaly, Atrial s... |
ORPHA:101028 |
Lymphoid Interstitial Pneumonia |
|
Subpleural interstitial thickening, Hepatomegaly, Bronchiectasis, Failure to thrive, Weight loss,... |
ORPHA:79128 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Intercostal muscle weakness, Stridor, Obstructive sleep apnea, Hammertoe, Shoulder girdle muscle ... |
OMIM:606071 |
Apnea, Central Sleep |
|
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration |
OMIM:207720 |
Cog7-Cdg |
|
Hepatomegaly, Adducted thumb, Small for gestational age, Failure to thrive, Abnormal heart morpho... |
ORPHA:79333 |
Tyrosinemia, Type I |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Renal Fanconi syndrome, Ascites, Hepatocellular carcin... |
OMIM:276700 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Death in infancy, Respiratory insufficiency, Skeletal muscle atrop... |
OMIM:245400 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... |
OMIM:614841 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating growth hormone conc... |
ORPHA:90301 |
Tetraamelia Syndrome 1 |
|
Renal agenesis, Asplenia, Urethral atresia, Adrenal gland agenesis, Hypoplasia of the fallopian t... |
OMIM:273395 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Pleuritis, Abnormal lung morphology, Chronic kidney disease, Eosino... |
ORPHA:449395 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Hypertrophic cardiomyopathy, Paroxysmal dyspnea, Stridor, Right ventricular hypertrophy, Left ven... |
ORPHA:444013 |
Ulnar Hemimelia |
|
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... |
ORPHA:93320 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Vaginal fistula, Myopathy, Skeletal muscle atrophy |
ORPHA:2597 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Failure to thrive in infancy, Death in infancy, Pulmonary arterial hypertension, Ca... |
OMIM:619064 |
Mosaic Trisomy 9 |
|
Talipes equinovarus, Renal dysplasia, Camptodactyly of finger, Finger clinodactyly, Hydrops fetal... |
ORPHA:99776 |
Refsum Disease, Classic |
|
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy, Congestive heart failure, Short fourth m... |
OMIM:266500 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hypertrophic cardiomyopathy, Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Ventricular arrhyt... |
ORPHA:280365 |
Complete Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... |
ORPHA:99429 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Increased hepatic glycogen content, Tubulointerstitial fibrosis, Hypertension, Menorrhagia, Nephr... |
ORPHA:79259 |
Cantu Syndrome |
|
Bicuspid aortic valve, Pericardial effusion, Metaphyseal widening, Broad first metatarsal, Cardio... |
OMIM:239850 |
Lethal Acantholytic Erosive Disorder |
|
Intrauterine growth retardation, 3-4 finger syndactyly, Cardiomegaly, Cardiomyopathy, 4-5 finger ... |
ORPHA:158687 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Failure to thrive, Decreased fetal movement, Splenomegaly, Recurrent urinary tract ... |
OMIM:618495 |
Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Met... |
ORPHA:314478 |
Atelosteogenesis, Type Ii |
|
Thoracic hypoplasia, Micrognathia, Short middle phalanx of finger, Short greater sciatic notch, R... |
OMIM:256050 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Intrauterine growth retardation, Premature birth, Polyhydramnios, Splenomegaly |
OMIM:618541 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Micrognathia, Ventricular septal defect, Skeletal muscle atrophy, Arthrog... |
OMIM:607598 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... |
OMIM:615234 |
Poland Syndrome |
|
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal sternum morphology, Asymmetry ... |
ORPHA:2911 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... |
ORPHA:1345 |
Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Postaxial polydactyly, Hypogonadism, Clinodactyly |
OMIM:615984 |
Beta-Thalassemia Intermedia |
|
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Jaundice, Anemia of i... |
ORPHA:231222 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Scapular winging, Respiratory insufficiency |
ORPHA:2901 |
Opsismodysplasia |
|
Hepatomegaly, Pectus excavatum, Respiratory insufficiency, Tapered finger, Abnormality of epiphys... |
ORPHA:2746 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypospadias, Abnormal penis morphology, Mitr... |
ORPHA:2556 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Obesity, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy |
OMIM:614947 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Martsolf Syndrome 1 |
|
Metatarsus adductus, Slender ulna, Talipes equinovarus, Hypogonadotropic hypogonadism, Cardiomyop... |
OMIM:212720 |
Brain-Lung-Thyroid Syndrome |
|
Hypospadias, Neonatal respiratory distress, Elevated circulating thyroid-stimulating hormone conc... |
ORPHA:209905 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
Congenital Tracheomalacia |
|
Wheezing, Neonatal respiratory distress, Apnea, Single ventricle, Decreased peak expiratory flow,... |
ORPHA:95430 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... |
ORPHA:1145 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Multiple pulm... |
ORPHA:723 |
Johanson-Blizzard Syndrome |
|
Dextrocardia, Hypospadias, Abnormal vagina morphology, Death in infancy, Hydronephrosis, Intraute... |
ORPHA:2315 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Neonatal death, Sclerotic scapulae, Lytic defec... |
OMIM:601376 |
Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Respiratory insufficiency, Cardiomyopathy, Muscular dystrophy, Hypoventil... |
OMIM:310200 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Myopathy, Increased muscle lipid content, Ragged-red muscle fibers, Macroglossia, R... |
ORPHA:254864 |
Orofaciodigital Syndrome Xviii |
|
Short middle phalanx of finger, Postaxial polydactyly, Genu valgum, Sandal gap, Preaxial polydact... |
OMIM:617927 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Adrenal insufficiency, Death in infancy, Hypertrophic cardiomyopathy |
OMIM:619386 |
Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Hepatomegaly, Micromelia, Hepatic fibrosis, Ascites, Extrapulmonary seque... |
OMIM:200995 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Central sleep apnea, Split hand, Respiratory failure |
ORPHA:168486 |
Cortisone Reductase Deficiency 1 |
|
Obesity, Infertility, Precocious puberty, Oligomenorrhea |
OMIM:604931 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... |
ORPHA:90793 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Polydactyly, Situs inversus totalis, Renal dysplasia, Hypogonadism, Obesity |
OMIM:615985 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Talipes equinovarus, Abnormal femoral torsion, Abnormal right ventricle morphology, Long hallux, ... |
ORPHA:500095 |
Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Telangiectasia, Intrauterine growth retardation, Hepatic... |
OMIM:606003 |
Gm1 Gangliosidosis |
|
Abnormal diaphysis morphology, Ventricular septal defect, Failure to thrive, Abnormal heart morph... |
ORPHA:354 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... |
ORPHA:90796 |
Acro-Renal-Mandibular Syndrome |
|
Intrauterine growth retardation, Thin ribs, Hypoplastic scapulae, Abnormal lung lobation, Pectus ... |
ORPHA:958 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... |
ORPHA:90797 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Myopathy, Cardiomyopathy |
ORPHA:26792 |
Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Polydactyly, Situs inversus totalis, Renal cyst, Stage 5 chronic kidney disease, Me... |
OMIM:615994 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... |
ORPHA:731 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus, Death in infancy |
OMIM:258320 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Decreased calvarial ossification, Long thorax, Horizontal ribs, Complete atrioventricular canal d... |
OMIM:617925 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Ventricular septal defect, Death in infancy, Intrauterine growth retardation, Peau ... |
OMIM:614576 |
Noonan Syndrome 3 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Tricuspid valve pr... |
OMIM:609942 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Intrauterine growth retardation, Arthrogryposis multiplex congenita, Respira... |
OMIM:615330 |
Erdheim-Chester Disease |
|
Hydronephrosis, Diabetes insipidus, Abnormal aortic valve morphology, Abnormality of epiphysis mo... |
ORPHA:35687 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Increased variability i... |
ORPHA:238329 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Mitral valve prolapse, Quadricuspid aortic valve, Ambiguous genitalia, femal... |
OMIM:606408 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... |
OMIM:614837 |
Premature Ovarian Failure 18 |
|
Secondary amenorrhea, Decreased antimullerian hormone level, Elevated circulating follicle stimul... |
OMIM:619203 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Proximal ... |
OMIM:613954 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
American Trypanosomiasis |
|
Myocarditis, Hepatomegaly, Edema, Cardiomyopathy, Splenomegaly, Congestive heart failure, Periorb... |
ORPHA:3386 |
Leprechaunism |
|
Hypertrophic cardiomyopathy, Central hypothyroidism, Hepatomegaly, Hypercalciuria, Severe intraut... |
ORPHA:508 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Dysphagia, Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weakness, Trem... |
ORPHA:2590 |
Primary Pulmonary Hypoplasia |
|
Abnormal breath sound, Hypoxemia, Dextrocardia, Neonatal respiratory distress, Abnormal hemidiaph... |
ORPHA:2257 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Short thorax, Sandal gap, Respiratory ... |
OMIM:617102 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Obesity, External genital hypoplasia |
OMIM:615996 |
Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... |
ORPHA:1344 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Respiratory distress, Distal amyotrophy |
OMIM:619099 |
46,Xy Sex Reversal 11 |
|
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... |
OMIM:273250 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Hepatomegaly, Death in infancy, Epiphyseal stippling |
OMIM:614862 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Adrenal insufficiency, Anisopoikilocytosis, Splenomegaly, Hepatosplenomeg... |
ORPHA:231214 |
3-Methylglutaconic Aciduria, Type Viii |
|
Respiratory failure, Apnea, Death in infancy, Tremor |
OMIM:617248 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Sandestig-Stefanova Syndrome |
|
Intrauterine growth retardation, Rocker bottom foot, Perimembranous ventricular septal defect, Bi... |
OMIM:618804 |
Craniorachischisis |
|
Congenital diaphragmatic hernia, Bifid sternum, Sirenomelia |
ORPHA:63260 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Nonimmune hydrops fetalis, Intrauterine growth retardation, Premature birth, Anemia, Cardiomegaly... |
OMIM:618838 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Abnormality of the uterus, Bicornuate... |
ORPHA:2143 |
Camptobrachydactyly |
|
Congenital finger flexion contractures, Short toe, Syndactyly, Septate vagina, Hand polydactyly, ... |
OMIM:114150 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Pulmonary insufficiency, Hepatomegaly, Death in infancy, Ascites, Restrictive cardiomyopathy, Tri... |
OMIM:619433 |
Immunodeficiency 54 |
|
Hepatomegaly, Intrauterine growth retardation, Respiratory insufficiency, Splenomegaly, Respirato... |
OMIM:609981 |
Central Precocious Puberty |
|
Overgrowth, Isosexual precocious puberty, Premature thelarche, Prenatal maternal abnormality, Obe... |
ORPHA:759 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Diabetes insipidus, Nephrocalcinosis, Failure to thrive, Polyhydramnios, Atrial septal defect, Co... |
ORPHA:500533 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of the liver, Hepatomegaly, Intrauterine growth retardation, Thrombocytopenia |
ORPHA:1980 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... |
ORPHA:45453 |
Laryngotracheal Angioma |
|
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions |
ORPHA:137935 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency |
OMIM:605711 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Anemia, Cardiomyopathy, Cirrhosis, Hepatic steatosis, Diabetes mellitus, Impotence,... |
OMIM:606069 |
Immunodeficiency 48 |
|
Failure to thrive, Hepatomegaly, Pneumonia, Splenomegaly |
OMIM:269840 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Genu varum, Phocomelia, Finger syndactyly, Tibial torsion, Aplasia/Hypopla... |
ORPHA:3320 |
Synpolydactyly 2 |
|
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... |
OMIM:608180 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Respiratory insufficiency, Thin ribs, Penoscrotal hypospadias, Joint hypermobility... |
ORPHA:456328 |
Roifman Syndrome |
|
Hepatomegaly, Ventricular septal defect, Single transverse palmar crease, Intrauterine growth ret... |
OMIM:616651 |
Kagami-Ogata Syndrome |
|
Premature birth, Hepatoblastoma, Polyhydramnios, Large for gestational age, Coxa valga, Large pla... |
ORPHA:254519 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Facial telangiectasia, Hallux valgus, Pancreatic hypoplasia, Splenomegaly, Micropenis, Hepatosple... |
OMIM:602782 |
Hydrops Fetalis, Nonimmune |
|
Nonimmune hydrops fetalis, Anemia, Congestive heart failure, Hydrops fetalis |
OMIM:236750 |
Fatco Syndrome |
|
Tarsal synostosis, Respiratory insufficiency, Finger syndactyly, Absent hand, Split hand, Abnorma... |
ORPHA:2492 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Obesity, Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
Fanconi Anemia |
|
Hypospadias, Aplasia/Hypoplasia of fingers, Abnormality of the ulna, Triphalangeal thumb, Aplasia... |
ORPHA:84 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, D... |
ORPHA:231226 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absence of pubertal development... |
ORPHA:432 |
Ciliary Dyskinesia, Primary, 2 |
|
Sinusitis, Dextrocardia, Infertility, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis,... |
OMIM:606763 |
16P13.11 Microduplication Syndrome |
|
Pectus excavatum, Ventricular septal defect, Craniosynostosis, Arachnodactyly, Transposition of t... |
ORPHA:261243 |
Melnick-Needles Syndrome |
|
Micrognathia, Short clavicles, Respiratory insufficiency, Bowing of the long bones, Short thorax,... |
ORPHA:2484 |
Galactosemia |
|
Secondary amenorrhea, Hepatomegaly, Oligomenorrhea, Decreased serum insulin-like growth factor 1,... |
ORPHA:352 |
Congenital Fiber-Type Disproportion Myopathy |
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Cor pulmonale, Pelvic girdle muscle weakness, Hip contracture, Talipes equinovarus, Respiratory f... |
ORPHA:2020 |
Perrault Syndrome 6 |
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Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... |
OMIM:617565 |
Cardiomyopathy, Dilated, 2E |
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Dilated cardiomyopathy, Death in infancy, Ebstein anomaly of the tricuspid valve, Death in childhood |
OMIM:619492 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Severe intrauterine growth retardation, Intrauterine growth retardation, Small for gestational ag... |
ORPHA:73272 |
Cryptogenic Organizing Pneumonia |
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Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Respiratory distress,... |
ORPHA:1302 |
Meconium Aspiration Syndrome |
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Wheezing, Hypoxemia, Fetal distress, Maternal diabetes, Premature rupture of membranes, Atelectas... |
ORPHA:70588 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
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Ventricular septal defect, Intrauterine growth retardation, Postaxial polydactyly, Preaxial polyd... |
OMIM:618142 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
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Acrocyanosis |
ORPHA:86918 |
Hepatic Veno-Occlusive Disease |
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Respiratory failure, Hepatomegaly, Jaundice |
ORPHA:890 |
Perrault Syndrome 4 |
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Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... |
OMIM:615300 |
Chromosome 18Q Deletion Syndrome |
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Hypospadias, Toe syndactyly, Ventricular septal defect, Failure to thrive in infancy, Umbilical h... |
OMIM:601808 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
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Bicuspid aortic valve, Toe syndactyly, Intrauterine growth retardation, Small for gestational age... |
OMIM:300707 |
Classic Multiminicore Myopathy |
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Right ventricular failure, Mitral valve prolapse, Right ventricular hypertrophy, Failure to thriv... |
ORPHA:324604 |
Congenital Disorder Of Glycosylation, Type Iie |
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Hepatomegaly, Hydronephrosis, Intrauterine growth retardation, Adducted thumb, Failure to thrive,... |
OMIM:608779 |
Simple Cryoglobulinemia |
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Raynaud phenomenon, Mesangial hypercellularity, Gastrointestinal hemorrhage, Vasculitis, Microsco... |
ORPHA:91139 |
Dysplastic Cortical Hyperostosis |
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Hepatomegaly, Aplasia/Hypoplasia of the lungs, Abnormality of the urinary system, Limb undergrowt... |
ORPHA:2204 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Hepatomegaly, Myopathy, Reduced subcutaneous adipose tissue, Tremor, Respiratory failure, Hyperin... |
ORPHA:363400 |
Staphylococcal Necrotizing Pneumonia |
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Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... |
ORPHA:36238 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Ventricular septal defect, Atrial fibrillation, Failure to thrive, Atrioventricular... |
ORPHA:137675 |
Neurooculocardiogenitourinary Syndrome |
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Ventricular septal defect, Cardiomegaly, Tricuspid regurgitation, Bilateral cryptorchidism, Atria... |
OMIM:618652 |
Orofaciodigital Syndrome Xvii |
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Renal hypoplasia, Polydactyly, Micropenis, Tetralogy of Fallot, Partial duplication of thumb phal... |
OMIM:617926 |
X-Linked Centronuclear Myopathy |
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Necklace skeletal muscle fibers, Pneumonia, Weakness of facial musculature, Premature birth, Decr... |
ORPHA:596 |
Pleural Mesothelioma |
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Hepatomegaly, Dysphagia, Abnormal respiratory system physiology, Cough, Respiratory distress, Dys... |
ORPHA:50251 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Thoraco-Abdominal Enteric Duplication |
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Dextrocardia, Hepatomegaly, Meningocele, Respiratory insufficiency, Abnormal tricuspid valve morp... |
ORPHA:1759 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
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Bilateral lung agenesis, Abnormal cardiac septum morphology, Neonatal death, Respiratory insuffic... |
OMIM:601612 |
Recurrent Respiratory Papillomatosis |
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Wheezing, Dysphagia, Stridor, Respiratory insufficiency, Tachypnea, Choking episodes, Upper airwa... |
ORPHA:60032 |
Neonatal Severe Primary Hyperparathyroidism |
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Hepatomegaly, Abnormality of the metaphysis, Splenomegaly, Abnormal calcium-phosphate regulating ... |
ORPHA:417 |
Achondrogenesis, Type Ib |
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Absent or minimally ossified vertebral bodies, Respiratory insufficiency, Short ribs, Stillbirth,... |
OMIM:600972 |
Naxos Disease |
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Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
Myotonic Dystrophy 1 |
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Testicular atrophy, Dysphagia, Facial diplegia, Decreased fetal movement, Cholelithiasis, Polyhyd... |
OMIM:160900 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Dilated cardiomyopathy, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive |
OMIM:615895 |
Coenzyme Q10 Deficiency, Primary, 8 |
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Left ventricular hypertrophy, Respiratory distress, Oligohydramnios, Flexion contracture |
OMIM:616733 |
Smith-Lemli-Opitz Syndrome |
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Hypospadias, 2-3 toe syndactyly, Bifid scrotum, Epiphyseal stippling, Proximal placement of thumb... |
OMIM:270400 |
Teebi Hypertelorism Syndrome 1 |
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Broad palm, Ventricular septal defect, Craniosynostosis, Small hand, Bicornuate uterus, Atrial se... |
OMIM:145420 |
Gaucher Disease, Perinatal Lethal |
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