Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Hyperlysinemia, Type I |
|
Cognitive impairment, Short attention span, Hyperactivity, Anemia |
OMIM:238700 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology |
DECIPHER:39 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Progressive neurologic deterioration, Cardiomegaly, Aggressive behav... |
OMIM:252920 |
Hartnup Disorder |
|
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Pulmonary hypoplasia, Abnormal li... |
ORPHA:3032 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Recurrent respiratory infections, Hyperactivity, Compulsive behaviors, Attention deficit hyperact... |
OMIM:619927 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Hepatomegaly, Hyperactivity |
OMIM:615924 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Abnorma... |
OMIM:615415 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Irritability, Pulmonary hypoplasia |
OMIM:615228 |
Landau-Kleffner Syndrome |
|
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Memory impairm... |
ORPHA:98818 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis... |
OMIM:261600 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Patent foramen ovale, Attention deficit hyperactivity disorder |
OMIM:617182 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Dysphagia |
ORPHA:89844 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate... |
OMIM:208540 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly |
OMIM:614096 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S... |
OMIM:615516 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Pulmonic stenosis, Attention deficit hyperactivi... |
OMIM:620141 |
Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Ventricular septal defect, Agenesis of pulmonary vessels, Hypoplastic left at... |
OMIM:601186 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetr... |
OMIM:252930 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615524 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Secundum atrial septal defect, Dysphori... |
OMIM:620242 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Pulmonary hypoplasia |
ORPHA:3033 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetr... |
OMIM:252900 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Restlessness, Confusion, Aggressive b... |
ORPHA:247585 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Mitral valve prolapse, Depression, Self... |
ORPHA:449291 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Mental deterioration, Low frustration tolerance... |
ORPHA:163681 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent foramen ovale, Pulmonary hypoplasia, Dysphagia |
OMIM:616867 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Tonne-Kalscheuer Syndrome |
|
Aggressive behavior, Abnormal heart morphology, Self-injurious behavior, Pulmonary hypoplasia, Dy... |
OMIM:300978 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Pulmonary hypoplasia |
OMIM:619003 |
Scimitar Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnorm... |
ORPHA:185 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia |
OMIM:616531 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Parachute mitral va... |
OMIM:618316 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Abnormal heart morphology, Pulmonary hypoplasia, Pulmonary sequestration, ... |
ORPHA:2847 |
Argininemia |
|
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Irritability, Portal ... |
OMIM:207800 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Abnormal lung lobation, Pulmonary hypoplasia, Abnormal heart morphology |
OMIM:263210 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Thrombocytopenia,... |
OMIM:608013 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Pulmonary hypoplasia |
OMIM:616733 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pulmonary hypoplasia |
OMIM:618174 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Bilobed right lung, Cystic liver disease, Bile duct proliferation, Hepatic fi... |
OMIM:612284 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pulmonary hypoplasia, Pulmonic stenosis, A... |
OMIM:608149 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... |
OMIM:608978 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Pulmonary hypopla... |
ORPHA:1335 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Pulmona... |
ORPHA:2470 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, ... |
ORPHA:699 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Abno... |
ORPHA:2257 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Hyperactivity, Short attention span, Abnormal heart valve morphology, Abnormal pulm... |
ORPHA:580 |
Mirage Syndrome |
|
Thrombocytopenia, Leukopenia, Aspiration pneumonia, Hypoplastic spleen, Lymphopenia, Anemia |
OMIM:617053 |
Truncus Arteriosus |
|
Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Anomalous origin of ... |
ORPHA:3384 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen |
OMIM:602361 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Pulmonary hypoplasia |
OMIM:617468 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Macrocytic anemia, Ventricular septal defect, Dextrocardia, Coronary artery fistul... |
OMIM:614294 |
Alg3-Cdg |
|
Cardiomyopathy, Pulmonary hypoplasia, Decreased liver function |
ORPHA:79321 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Cardiomyopathy, Pulmonary hypoplasia, Dysphagia, Patent foramen ovale |
OMIM:616866 |
Serkal Syndrome |
|
Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis |
ORPHA:139466 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Pleur... |
OMIM:616897 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Extrapulm... |
OMIM:200995 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... |
OMIM:618280 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:255320 |
Larsen-Like Syndrome, Lethal Type |
|
Pulmonary hypoplasia |
OMIM:245650 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly, Pulmonary hypoplasia |
ORPHA:3035 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Pulmonary hypoplasia |
ORPHA:2655 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Pulmonary hy... |
OMIM:617022 |
Choreoacanthocytosis |
|
Compulsive behaviors, Hepatomegaly, Self-mutilation of tongue and lips due to involuntary movemen... |
ORPHA:2388 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia |
ORPHA:2140 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Pulmonary hypoplasia, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
Achondrogenesis Type 2 |
|
Pulmonary hypoplasia |
ORPHA:93296 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Pulmonary hypoplasia, Situs inversus totalis |
OMIM:202650 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Partial anomalous pulmonary venous return, Pn... |
ORPHA:95430 |
Atelosteogenesis, Type Ii |
|
Pulmonary hypoplasia |
OMIM:256050 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia |
OMIM:601163 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Atrioventricular canal defect, Pulmonary hypoplasia, Transposition of the great art... |
OMIM:314390 |
Nephronophthisis 2 |
|
Situs inversus totalis, Pulmonary hypoplasia |
OMIM:602088 |
Pallister-Hall-Like Syndrome |
|
Pulmonary hypoplasia |
OMIM:241800 |
Multiple Pterygium Syndrome, X-Linked |
|
Pulmonary hypoplasia, Hypoplastic heart |
OMIM:312150 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmona... |
OMIM:611812 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Aortopulmonary window, Hypoplastic l... |
ORPHA:99050 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Cardiomegaly, Recurrent pneumonia, Bronchiectasis, Abnormal hea... |
ORPHA:980 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Pulmonary hypoplasia, Pulmonic stenosis, Left ventricular hyp... |
OMIM:619148 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia |
ORPHA:1486 |
Multiple Pterygium Syndrome, Lethal Type |
|
Pulmonary hypoplasia, Hypoplastic heart |
OMIM:253290 |
Alg9-Cdg |
|
Hepatomegaly, Ventricular septal defect, Pericardial effusion, Abnormal lung lobation, Abnormal h... |
ORPHA:79328 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, Pulmonary hypoplasi... |
OMIM:613177 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Pneumothorax, Pulmonary hypoplasia, Cardiomegaly |
OMIM:620306 |
Odontochondrodysplasia 1 |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:184260 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia |
OMIM:615503 |
Severe Congenital Nemaline Myopathy |
|
Pulmonary hypoplasia, Dysphagia |
ORPHA:171430 |
Meckel Syndrome 14 |
|
Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Single ventricle |
OMIM:619879 |
1Q41Q42 Microdeletion Syndrome |
|
Hyposegmentation of neutrophil nuclei, Pulmonary hypoplasia |
ORPHA:250999 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts... |
OMIM:208500 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Atelectasis, Periportal fibrosis, Pulmonar... |
OMIM:269860 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Prolonged neonatal jaun... |
OMIM:214100 |
Lethal Congenital Contracture Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:253310 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:145420 |
Marden-Walker Syndrome |
|
Pulmonary hypoplasia, Dextrocardia |
OMIM:248700 |
Caudal Regression Syndrome |
|
Pulmonary hypoplasia, Impulsivity |
ORPHA:3027 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Pulmonary hypoplasia |
OMIM:236500 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation, Pulmonary hypoplasia |
OMIM:608022 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis, Pulmonary hypoplasia |
OMIM:614091 |
Pagod Syndrome |
|
Situs inversus totalis, Abnormality of the spleen, Pulmonary artery hypoplasia, Hypoplastic left ... |
ORPHA:991 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
Mosaic Trisomy 1 |
|
Pulmonary artery atresia, Hepatic agenesis, Ventricular septal defect, Pulmonary hypoplasia |
ORPHA:1692 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect... |
ORPHA:99125 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia, Dysphagia, Lymphopenia |
OMIM:619708 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:612530 |
Oligomeganephronia |
|
Secundum atrial septal defect, Polydipsia, Pulmonary venous occlusion, Pulmonary hypoplasia |
ORPHA:2260 |
Distal Triplication 15Q |
|
Atrial septal defect, Pulmonary hypoplasia, Abnormal heart morphology |
ORPHA:314588 |
Czeizel-Losonci Syndrome |
|
Pulmonary hypoplasia, Dextrocardia |
ORPHA:2437 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Pulmonary hypoplasia, Abnormal heart morphology |
ORPHA:1865 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Abnormal aortic valve morphology, Pulmonary hypoplasia, Cognitive impairment |
ORPHA:2990 |
Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia |
OMIM:191830 |
Platyspondylic Dysplasia, Torrance Type |
|
Pulmonary hypoplasia |
ORPHA:85166 |
Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology, Pulmonary hypoplasia |
ORPHA:1190 |
Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Aggressive behavior, Head-banging, Stereotypical bod... |
ORPHA:86309 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... |
ORPHA:1596 |
Thanatophoric Dysplasia, Type I |
|
Pulmonary hypoplasia |
OMIM:187600 |
Fetal Akinesia Deformation Sequence |
|
Pulmonary hypoplasia |
ORPHA:994 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
OMIM:267430 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
ORPHA:3309 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect, Hepatic fibrosis, Pulmonary hypoplasia, Atrial se... |
OMIM:263520 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Hyperactivity, Ventricular septal defect, Aggressive behavior, Splenomegaly, Abnorm... |
OMIM:270400 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Pulmonary hypoplasia |
OMIM:224410 |
Thoracoabdominal Syndrome |
|
Ectopia cordis, Pulmonary hypoplasia, Transposition of the great arteries |
OMIM:313850 |
Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Pleural effusion, Pulmonary hypoplasia |
OMIM:620369 |
Greenberg Dysplasia |
|
Hepatomegaly, Abnormal lung lobation, Hepatic calcification, Hepatosplenomegaly, Pancreatic islet... |
OMIM:215140 |
Esophageal Atresia |
|
Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Pulmonary hypoplasia, Dy... |
ORPHA:1199 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Abnormality of the gallbladder, Abnormal lung lobation, Self-injurious... |
ORPHA:818 |
Fryns Syndrome |
|
Abnormal cardiac septum morphology, Pulmonary hypoplasia, Tetralogy of Fallot |
ORPHA:2059 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Aortopulmonary window, Pulmonary artery hypoplasia, Pulm... |
OMIM:620025 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:958 |
Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Hyperactivity, Dextrocardia, Jaundice, Biliary atresia, Abnorma... |
ORPHA:3310 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Abnormal lung morphology, Abnormal heart morphology, Pulmonary hypopla... |
ORPHA:1708 |
Genitopatellar Syndrome |
|
Atrial septal defect, Pulmonary hypoplasia |
ORPHA:85201 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Pulmonary hypoplasia |
OMIM:151210 |
Joubert Syndrome 21 |
|
Splenomegaly, Pulmonary hypoplasia, Dysphagia |
OMIM:615636 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Complete atrioventricular canal defect, Pulmonary hypoplasia, Atrial s... |
OMIM:617063 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Abnormal card... |
OMIM:249000 |
Renal Agenesis |
|
Ventricular septal defect, Pulmonary hypoplasia |
ORPHA:411709 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:86822 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Complete atrioventricular canal defect, Tetralogy of Fallot, Pulmonary hypopl... |
OMIM:617925 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Abnormal heart valve morphology, Pulmonary hypoplasia |
ORPHA:90652 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Atrial septal defect, Pulmonary hypoplasia |
OMIM:614080 |
Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Dysphagia |
OMIM:601559 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Ventricular septal defect, Pulmonary hypoplasia, Polysplenia, Chylotho... |
OMIM:229850 |
Tarp Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonary hypoplasia, Extramedullary hematopoiesis |
ORPHA:2886 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Respiratory infections in early life, Pulmonary hypoplasia |
ORPHA:96179 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces, Mitral valve prolapse |
ORPHA:536467 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Perimembranous ventricular septal de... |
ORPHA:83617 |
Congenital Myopathy 17 |
|
Respiratory tract infection, Pulmonary hypoplasia |
OMIM:618975 |
Microcephaly-Micromelia Syndrome |
|
Pulmonary hypoplasia |
OMIM:251230 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Pulmonary hypoplasia, Pulmonic stenosis, Atrial septal defect, A... |
ORPHA:536471 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
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Abnormal cardiac septum morphology, Pulmonary hypoplasia, Single ventricle |
OMIM:308050 |
Achondroplasia |
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Pulmonary hypoplasia |
OMIM:100800 |
Tetraamelia Syndrome 1 |
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Asplenia, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia |
OMIM:273395 |
Achondrogenesis, Type Ia |
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Pulmonary hypoplasia |
OMIM:200600 |
Schinzel-Giedion Syndrome |
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Myeloid leukemia, Recurrent pneumonia, Abnormal heart morphology, Pulmonary hypoplasia, Dysphagia... |
ORPHA:798 |
Neu-Laxova Syndrome |
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Pulmonary hypoplasia |
ORPHA:2671 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Peritonitis, Pulmonary hypoplasia |
OMIM:619351 |
Atelosteogenesis Type Ii |
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Pulmonary hypoplasia |
ORPHA:56304 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Atrial septal defect, Pulmonary hypoplasia |
OMIM:616546 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Hepatomegaly, Atrial septal defect, Ventricular septal defect, Pulmonary artery stenosis, Hepatos... |
ORPHA:96334 |
Raine Syndrome |
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Pulmonary hypoplasia |
OMIM:259775 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Pulmonary hypoplasia |
OMIM:616300 |
Multiple Pterygium Syndrome, Escobar Variant |
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Pulmonary hypoplasia |
OMIM:265000 |
Fontaine Progeroid Syndrome |
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Atrial septal defect, Bicuspid aortic valve, Pneumothorax, Abnormal heart morphology, Pulmonary h... |
OMIM:612289 |
Renal Agenesis, Bilateral |
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Pulmonary hypoplasia |
ORPHA:1848 |
Vacterl With Hydrocephalus |
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Pulmonary hypoplasia |
ORPHA:3412 |
Osteogenesis Imperfecta |
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Abnormal endocardium morphology, Mitral valve prolapse, Pulmonary hypoplasia, Dysphagia, Thromboc... |
ORPHA:666 |
Fraser Syndrome 1 |
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Abnormal thymus morphology, Pulmonary hypoplasia, Abnormal heart morphology |
OMIM:219000 |
Blomstrand Lethal Chondrodysplasia |
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Pulmonary hypoplasia |
ORPHA:50945 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Pulmonary hypoplasia |
OMIM:271520 |
Acrorenal-Mandibular Syndrome |
|
Pulmonary hypoplasia |
OMIM:200980 |
Orofaciodigital Syndrome Type 4 |
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Bilateral lung agenesis, Recurrent respiratory infections, Pulmonary hypoplasia |
ORPHA:2753 |
Penile Agenesis |
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Atrial septal defect, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hypoplasia |
ORPHA:49 |
Restrictive Dermopathy |
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Atrial septal defect, Dextrocardia, Pulmonary hypoplasia, Transposition of the great arteries |
ORPHA:1662 |
Neu-Laxova Syndrome 1 |
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Ventricular septal defect, Pulmonary hypoplasia, Patent foramen ovale, Transposition of the great... |
OMIM:256520 |
Lethal Congenital Contracture Syndrome 9 |
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Pulmonary hypoplasia |
OMIM:616503 |
Mckusick-Kaufman Syndrome |
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Pulmonary hypoplasia |
OMIM:236700 |
Restrictive Dermopathy 1 |
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Atrial septal defect, Pulmonary hypoplasia |
OMIM:275210 |
Genitopatellar Syndrome |
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Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia, Dysphagia |
OMIM:606170 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
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Pulmonary hypoplasia |
ORPHA:1112 |
Fetal Akinesia Deformation Sequence 1 |
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Pulmonary hypoplasia |
OMIM:208150 |
Fraser Syndrome |
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Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2052 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Congenital hepatic fibrosis, Pulmonary hypoplasia |
ORPHA:93271 |
Ulbright-Hodes Syndrome |
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Pneumothorax, Pulmonary hypoplasia |
ORPHA:3404 |
Microphthalmia, Syndromic 1 |
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Pulmonary hypoplasia, Bicuspid aortic valve, Self-mutilation, Aggressive behavior |
OMIM:309800 |
Pallister-Killian Syndrome |
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Ventricular septal defect, Aortic valve stenosis, Pulmonary hypoplasia, Atrial septal defect, Hyp... |
OMIM:601803 |
Craniofacial Microsomia 1 |
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Tetralogy of Fallot, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:164210 |