| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise |
ORPHA:206599 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Truncal obesity |
OMIM:240900 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Decreased body weight, Abnormality of body weight |
ORPHA:314811 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Cardiomyopathy |
OMIM:609016 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Impaired glucose tolerance, Type II diabetes mellitus, Hypertension, Myocar... |
OMIM:610947 |
| Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... |
ORPHA:324575 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Insulin resistance, Diabetes mellitus, Hypoglycemia, Failure to thrive... |
ORPHA:181393 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Failure to thrive in infancy |
OMIM:232700 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem... |
ORPHA:293964 |
| Obesity Due To Sim1 Deficiency |
|
Hypotension, Hyperinsulinemia, Increased resting energy expenditure, Obesity, Glucose intolerance... |
ORPHA:369873 |
| Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia |
ORPHA:99811 |
| Propionic Acidemia |
|
Cardiomyopathy, Hypoglycemia, Arrhythmia |
ORPHA:35 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Small for gestational age, Hypoglycemia, Postprandial hy... |
OMIM:262190 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia, Retinal telangiectasia, Telangiectasia of the skin |
ORPHA:438134 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia |
ORPHA:261102 |
| Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Hypoglycemia |
OMIM:618182 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Failure to thrive in infancy |
ORPHA:6 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
| Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
| Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
| Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Mitral stenosis, Hypoxemia, Congenital diaphragmatic hernia, Palpitatio... |
ORPHA:2847 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
| Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Large for gestational ag... |
ORPHA:552 |
| Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Emphysema |
ORPHA:171719 |
| Congenital Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Hypoxemia, Respiratory distress, Aplasia/Hypoplasia of the diaph... |
ORPHA:2140 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia, Hypertension |
OMIM:201910 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Emphysema |
OMIM:614100 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia, Respiratory insufficiency, Tricuspid r... |
ORPHA:1120 |
| Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Cardiomyopathy |
OMIM:616483 |
| Emanuel Syndrome |
|
Patent ductus arteriosus, Chronic oral candidiasis, Truncus arteriosus, Torticollis, Recurrent si... |
OMIM:609029 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Congenital diaphragmatic hernia, Hypertension |
OMIM:166300 |
| Serkal Syndrome |
|
Congenital diaphragmatic hernia, Pulmonic stenosis, Oligohydramnios |
ORPHA:139466 |
| Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia |
OMIM:615524 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Respiratory insufficiency, Congenital diaphragmatic hernia |
ORPHA:1166 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2141 |
| Trisomy 1Q |
|
Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Congenital di... |
ORPHA:261344 |
| Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:613630 |
| Emanuel Syndrome |
|
Patent ductus arteriosus, Multiple joint contractures, Truncus arteriosus, Oligohydramnios, Conge... |
ORPHA:96170 |
| 13Q12.3 Microdeletion Syndrome |
|
Camptodactyly, Congenital diaphragmatic hernia, Upper eyelid edema, Obstructive sleep apnea, Atop... |
ORPHA:412035 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Diabetes mellitus, Hypoglycemia, Large for gestational age |
OMIM:616026 |
| Cebalid Syndrome |
|
Congenital diaphragmatic hernia, Polymicrogyria |
OMIM:618774 |
| Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:380 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Polyhydramnios, Oligohydramnios |
OMIM:263210 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Supravalvular aortic stenosis, Congenital diaphragmatic hernia, Emphysema, Oligohydramnios |
OMIM:219100 |
| Intellectual Disability-Strabismus Syndrome |
|
Patent ductus arteriosus, Polyhydramnios, Congenital finger flexion contractures, Joint contractu... |
ORPHA:363528 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Congenital diaphragmatic hernia, Abnormality of the diaphragm |
OMIM:601163 |
| Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia, Respiratory distress, Morgagni diaphra... |
OMIM:613309 |
| Acrocallosal Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:36 |
| Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1520 |
| Tonne-Kalscheuer Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:300978 |
| Zaki Syndrome |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia |
OMIM:619648 |
| Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Respiratory insufficiency, Truncus arteriosus, Diaphragmatic eventratio... |
OMIM:601186 |
| Mullegama-Klein-Martinez Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:301022 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Respiratory insufficiency |
ORPHA:1488 |
| 8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Congenital diaphragmatic hernia |
ORPHA:251071 |
| Diaphragmatic Hernia 2 |
|
Congenital diaphragmatic hernia, Agenesis of the diaphragm |
OMIM:222400 |
| Seckel Syndrome 9 |
|
Asthma, Congenital diaphragmatic hernia, Simplified gyral pattern, Polyhydramnios |
OMIM:616777 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Congenital diaphragmatic hernia, Abnormality of neuronal migration |
ORPHA:2063 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2143 |
| Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:284180 |
| Schisis Association |
|
Congenital diaphragmatic hernia |
ORPHA:63862 |
| White-Sutton Syndrome |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia, Facial hypotonia, Obstructive sleep apnea |
OMIM:616364 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:370079 |
| 15Q24 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:94065 |
| Isolated Anencephaly |
|
Congenital diaphragmatic hernia |
ORPHA:563609 |
| Oculocerebrocutaneous Syndrome |
|
Congenital diaphragmatic hernia, Polymicrogyria |
ORPHA:1647 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Congenital diaphragmatic hernia, Respiratory distress |
OMIM:606164 |
| Arterial Tortuosity Syndrome |
|
Flexion contracture, Ischemic stroke, Hypertension, Aortic regurgitation, Telangiectases of the c... |
OMIM:208050 |
| Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia |
OMIM:313850 |
| 2Q37 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Eczema, Tracheomalacia |
ORPHA:1001 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Polyhydramnios, Elbow flexion contracture, Congenital diaphragmatic hern... |
ORPHA:1692 |
| Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Oligohydramnios |
ORPHA:1834 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Hydrops fetalis, Polyhydramnios, Polymicrogyria |
OMIM:616546 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia, Polyhydramnios |
OMIM:614080 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Laryngotracheomalacia, Congenital diap... |
OMIM:618454 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Patent ductus arteriosus, Diastasis recti, Congenital diaphragmatic hern... |
ORPHA:2092 |
| Oligomeganephronia |
|
Congenital diaphragmatic hernia, Hypertension, Dehydration |
ORPHA:2260 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Respiratory insufficiency |
ORPHA:2311 |
| Alpha-Fetoprotein Deficiency |
|
Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Knee flexion contracture, Flexion contracture, Hydrops fetalis, Multiple joint contractures, Diap... |
OMIM:265000 |
| Denys-Drash Syndrome |
|
Neonatal respiratory distress, Congenital diaphragmatic hernia, Hypertension, Posterolateral diap... |
OMIM:194080 |
| Aymé-Gripp Syndrome |
|
Patent ductus arteriosus, Pericardial effusion, Camptodactyly, Pericarditis, Congenital diaphragm... |
ORPHA:1272 |
| 1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:250999 |
| 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Simplified gyral pattern, Tracheomalacia, Congenital diaphragmatic hern... |
ORPHA:96121 |
| Meacham Syndrome |
|
Patent ductus arteriosus, Aortic valve stenosis, Congenital diaphragmatic hernia |
ORPHA:3097 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:619699 |
| Lowry-Maclean Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2409 |
| Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Oligohydramnios |
ORPHA:958 |
| Perlman Syndrome |
|
Polyhydramnios, Congenital diaphragmatic hernia, Edema, Ascites, Hypoplasia of the abdominal wall... |
OMIM:267000 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Congenital diaphragmatic hernia, Camptodactyly, Repeated pneumothoraces |
OMIM:617602 |
| Fetal Alcohol Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:1915 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:612530 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Diaphragmatic eventration |
OMIM:222448 |
| Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia |
ORPHA:95706 |
| Vacterl/Vater Association |
|
Congenital diaphragmatic hernia, Polyhydramnios |
ORPHA:887 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Oligohydramnios |
OMIM:611812 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Congenital diaphragmatic hernia, Elbow flexion contracture |
OMIM:618022 |
| Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Aspiration |
OMIM:618651 |
| Opitz Gbbb Syndrome |
|
Patent ductus arteriosus, Recurrent aspiration pneumonia, Congenital diaphragmatic hernia, Strido... |
ORPHA:2745 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Emphysema, Oligohydramnios, Congenital diaphragmatic hernia, Bradycardia |
OMIM:614437 |
| Pagod Syndrome |
|
Sudden cardiac death, Congenital diaphragmatic hernia, Abnormality of neuronal migration, Arrhythmia |
ORPHA:991 |
| Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Hydrops fetalis, Tracheomalacia |
ORPHA:268249 |
| Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2075 |
| White-Sutton Syndrome |
|
Congenital diaphragmatic hernia, Facial hypotonia, Obstructive sleep apnea |
ORPHA:468678 |
| Fryns Syndrome |
|
Congenital diaphragmatic hernia, Polyhydramnios |
ORPHA:2059 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261197 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Patent ductus arteriosus, Respiratory distress, Oligohydramnios, Congenital diaphragmatic hernia,... |
ORPHA:2255 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent ductus arteriosus, Truncus arteriosus, Congenital diaphragmatic hernia, Aplasia of the lef... |
OMIM:600001 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Congenital diaphragmatic hernia, Elbow flexion contracture, Left ventricular hypertrophy |
OMIM:245600 |
| Holoprosencephaly |
|
Respiratory insufficiency, Congenital diaphragmatic hernia, Abnormality of neuronal migration, Ar... |
ORPHA:2162 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Junctional ectopic tachycardia, Arr... |
OMIM:309801 |
| Trisomy 18 |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Oligohydramnios |
ORPHA:3380 |
| Cardiac-Urogenital Syndrome |
|
Patent ductus arteriosus, Pericardial effusion, Congenital diaphragmatic hernia, Tracheomalacia, ... |
OMIM:618280 |
| Acrofacial Dysostosis 1, Nager Type |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia, Polymicrogyria |
OMIM:154400 |
| Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2470 |
| Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall musculature, Bu... |
ORPHA:373 |
| Iniencephaly |
|
Congenital diaphragmatic hernia, Lissencephaly, Arthrogryposis multiplex congenita, Polyhydramnios |
ORPHA:63259 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Congenital diaphragmat... |
ORPHA:2556 |
| Distal Monosomy 15Q |
|
Mitral stenosis, Congenital diaphragmatic hernia, Patent ductus arteriosus |
ORPHA:1596 |
| Smith-Lemli-Opitz Syndrome |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia, Increased nuchal translucency, Polyhyd... |
ORPHA:818 |
| Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:1780 |
| Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Elbow flexion contracture, Pneumonia |
OMIM:122470 |
| Craniorachischisis |
|
Congenital diaphragmatic hernia |
ORPHA:63260 |
| Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Elbow flexion contracture, Oligohydramnios |
OMIM:200980 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Respiratory insufficiency, Congenital diaphragmatic hernia, Oligohydramnios |
OMIM:617641 |
| Craniofrontonasal Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:304110 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Patent ductus arteriosus, Polyhydramnios, Diastasis recti, Macroglossia, Congenital diaphragmatic... |
OMIM:312870 |
| Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Gray matter heterotopia, Abnormal cortical gyration, Agenesis of the diaphragm |
OMIM:236680 |
| Pentalogy Of Cantrell |
|
Congenital diaphragmatic hernia |
ORPHA:1335 |
| Chromosome 15Q25 Deletion Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:614294 |
| Beckwith-Wiedemann Syndrome |
|
Polyhydramnios, Diastasis recti, Macroglossia, Hypertrophic cardiomyopathy, Congenital diaphragma... |
ORPHA:116 |
| Diets-Jongmans Syndrome |
|
Congenital diaphragmatic hernia, Polyhydramnios |
OMIM:618846 |
| Kabuki Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2322 |
| Witteveen-Kolk Syndrome |
|
Polyhydramnios, Bilateral polymicrogyria, Intracranial hemorrhage, Eczema, Congenital diaphragmat... |
OMIM:613406 |
| Wolf-Hirschhorn Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:280 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Congenital diaphragmatic hernia, Contracture of the proximal interphalangeal joint of the 3rd fin... |
OMIM:301044 |
| Monosomy 9P |
|
Congenital diaphragmatic hernia |
ORPHA:261112 |
| C Syndrome |
|
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Polyhydram... |
ORPHA:1308 |
| Coffin-Siris Syndrome 1 |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia |
OMIM:135900 |
| Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Mitral regurgitation |
OMIM:157800 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Telangiectasia, Diastasis recti |
OMIM:305600 |
| Poland Syndrome |
|
Aplasia of the pectoralis major muscle, Congenital diaphragmatic hernia |
ORPHA:2911 |
| Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Diastasis recti |
ORPHA:2369 |
| Pallister-Killian Syndrome |
|
Patent ductus arteriosus, Polyhydramnios, Flexion contracture, Apneic episodes in infancy, Edema ... |
OMIM:601803 |
| Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Increased nuchal translucency |
ORPHA:199 |
| Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia |
OMIM:273395 |
| Aortic Valve Disease 3 |
|
Aortic valve stenosis |
OMIM:618496 |
