Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Panaci... |
OMIM:613490 |
Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Pulmon... |
ORPHA:3032 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnor... |
ORPHA:2357 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Abnorma... |
OMIM:615415 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Hypoplastic left atrium, Cleft... |
OMIM:615524 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor, Megaloblastic anemia |
OMIM:243320 |
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, Intestinal malrotation, Malformation of ... |
OMIM:208540 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... |
ORPHA:3077 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Irritability, Pulmonary hypoplasia |
OMIM:615228 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Abnormal heart morphology, Pu... |
ORPHA:2847 |
Tonne-Kalscheuer Syndrome |
|
Aggressive behavior, Tremor, Cryptorchidism, Velopharyngeal insufficiency, Abnormal heart morphol... |
OMIM:300978 |
Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Agenesis of pulmonary vessels, Hyp... |
OMIM:601186 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly |
OMIM:614096 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Attention deficit hyperactivity diso... |
ORPHA:281090 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotat... |
OMIM:618316 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia, Cleft palate |
ORPHA:2631 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... |
ORPHA:234 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Abnormal gastric mucosa mor... |
ORPHA:2494 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia, Absent uvula |
OMIM:616531 |
Metachromatic Leukodystrophy |
|
Dystonia, Abnormal stomach morphology, Tremor, Abnormal gallbladder morphology, Hemobilia, Neopla... |
ORPHA:512 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Pulmonary hypoplasia |
ORPHA:3033 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent foramen ovale, Pulmonary hypoplasia, Dysphagia |
OMIM:616867 |
Alg3-Cdg |
|
Abnormality of the gastrointestinal tract, Cardiomyopathy, Macroglossia, High palate, Decreased l... |
ORPHA:79321 |
Mirage Syndrome |
|
Cryptorchidism, Thrombocytopenia, Esophageal stricture, Leukopenia, Gastroesophageal reflux, Aspi... |
OMIM:617053 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... |
OMIM:263200 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, ... |
ORPHA:2470 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the colon, Neoplasm of the stoma... |
ORPHA:44890 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macrogloss... |
OMIM:617022 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia |
ORPHA:309246 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia, Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic... |
ORPHA:731 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresi... |
ORPHA:2538 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... |
ORPHA:699 |
Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Cardiomegaly, Hepatosplenomegaly, Macroglossia |
OMIM:268800 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Pulmonary hypoplasia |
OMIM:619003 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Head titubation, Interstitial emphysema, Bronchiectasis, Dysphagia, Inflammation of the large int... |
OMIM:619708 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly |
ORPHA:309155 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Hyperekplexia 2 |
|
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia |
OMIM:614619 |
Scimitar Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnorm... |
ORPHA:185 |
Hyperekplexia 3 |
|
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia |
OMIM:614618 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Opisthotonus, Pul... |
OMIM:608013 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly, Pulmonary hypoplasia, Intestinal malrotation |
ORPHA:3035 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia, Testicular atrophy, Intestinal malrotation |
OMIM:601163 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... |
ORPHA:90291 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Abnormal lung lobation, Pulmonary hypoplasia, Abnormal heart morphology |
OMIM:263210 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Cleft palate, Pul... |
ORPHA:1335 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... |
ORPHA:263665 |
Serkal Syndrome |
|
Malrotation of small bowel, Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis |
ORPHA:139466 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pulmonary hypoplasia |
OMIM:618174 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Bilobed right lung, Cleft palate, Cystic liver disease, Bile duct proliferati... |
OMIM:612284 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Ankyloglossia |
OMIM:602361 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus, Anemia, Depression |
OMIM:184850 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Transposition of the great arteries,... |
OMIM:314390 |
Esophageal Atresia |
|
Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Intestinal malrot... |
ORPHA:1199 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia, Intestinal malrotation |
ORPHA:2140 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Gastroesophageal reflux, Depression |
OMIM:620114 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormal stomach morphology, Abnormal lung morphology, Abnormal lung l... |
ORPHA:141127 |
Tay-Sachs Disease |
|
Exaggerated startle response, Dystonia, Tremor, Hepatosplenomegaly, Depression, Aspiration pneumo... |
ORPHA:845 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pulmonary hypoplasia, Pulmonic stenosis, A... |
OMIM:608149 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Pulmonary hypoplasia |
OMIM:616733 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Cor triatrium sinister, Unilateral cryptorchidism, Ventricular septal defect, C... |
OMIM:618280 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
High palate, Pulmonary hypoplasia |
OMIM:617468 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Pyloric stenosis, Rectal prolapse, Atelectasis, Recurrent pneumonia, Hypoplasia... |
OMIM:613177 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... |
OMIM:608978 |
Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Microglossia, Pulmonary hypoplasia, Cleft palate |
OMIM:241800 |
Reynolds Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Gastroesophageal reflux, ... |
ORPHA:779 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Clef... |
ORPHA:2257 |
Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response |
ORPHA:3198 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Marden-Walker Syndrome |
|
Dextrocardia, Cryptorchidism, High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Elli... |
OMIM:248700 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, High palate, Pulmonary hypoplasia |
OMIM:255320 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Partial anomalous pulmona... |
ORPHA:95430 |
Truncus Arteriosus |
|
Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Anomalous origin of ... |
ORPHA:3384 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Cardiomegaly, Cleft palate, Pleural effusion, Pulmonary hypoplasia, Hy... |
OMIM:616897 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Cardiomyopathy, High palate, Pulmonary hypoplasia, Dysphagia, Pate... |
OMIM:616866 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Pulmonary hypoplas... |
OMIM:202650 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Pyloric stenosis, Anteriorly placed anus, Hig... |
OMIM:619148 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, High palate, Agitation |
OMIM:618056 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Macroglossia, Cardiomyopathy, Aspiration pneumo... |
ORPHA:79255 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Pulm... |
OMIM:611812 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Gastroeso... |
OMIM:608800 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Tremor, Cryptorchidism, Atrial septal defect, Patent foramen ovale |
OMIM:620327 |
Alg9-Cdg |
|
Hepatomegaly, Torticollis, Villous atrophy, Ventricular septal defect, Pericardial effusion, Abno... |
ORPHA:79328 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Cleft palate, Abnormal cardiac sep... |
ORPHA:2059 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Splenomegal... |
OMIM:269860 |
1Q41Q42 Microdeletion Syndrome |
|
Cryptorchidism, Hyposegmentation of neutrophil nuclei, Submucous cleft hard palate, Cleft palate,... |
ORPHA:250999 |
Atelosteogenesis, Type Ii |
|
Pulmonary hypoplasia, Cleft palate |
OMIM:256050 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Pulmonary hypoplasia |
ORPHA:2655 |
Leukodystrophy, Hypomyelinating, 13 |
|
Irritability, Exaggerated startle response |
OMIM:616881 |
Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Cryptorchidism, Pulmonary hypoplasia, Cleft palate |
ORPHA:994 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Tremor, Cleft palate, Hydrocele testis, Choreoathetosis, High palate, Gastroesopha... |
OMIM:614080 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Multiple Pterygium Syndrome, X-Linked |
|
Pulmonary hypoplasia, Hypoplastic heart, Cleft palate |
OMIM:312150 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Tracheoesophageal fistula, High palate, Pulmonary hypoplasia, Hypoplastic nipples |
ORPHA:2437 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Protruding tongue, Cryp... |
OMIM:214100 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Ventricular septal defect, Cryptorchidism, Complete atrioventricular canal defect,... |
OMIM:617063 |
Achondrogenesis Type 2 |
|
Pulmonary hypoplasia |
ORPHA:93296 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Pulmonary hypoplasia, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
Larsen-Like Syndrome, Lethal Type |
|
Pulmonary hypoplasia |
OMIM:245650 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Cleft palate, High palate, Pulmo... |
OMIM:612530 |
Multiple Pterygium Syndrome, Lethal Type |
|
Pulmonary hypoplasia, Hypoplastic heart, Cleft palate |
OMIM:253290 |
Caudal Regression Syndrome |
|
Cryptorchidism, Anal atresia, Pulmonary hypoplasia, Impulsivity |
ORPHA:3027 |
Atelosteogenesis Type I |
|
Malrotation of colon, Abnormal pancreatic duct morphology, Pulmonary hypoplasia, Cleft palate |
ORPHA:1190 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short uvula, Cleft palate, High palate, Hepatic fibrosis, Pulmonary hypoplasia |
OMIM:614091 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect, Hamartoma of tongue, Intestinal malrotation, Clef... |
OMIM:263520 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Irritability, Exaggerated startle response |
OMIM:617864 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotati... |
OMIM:229850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... |
OMIM:253800 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Nephronophthisis 2 |
|
Situs inversus totalis, Pulmonary hypoplasia |
OMIM:602088 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
Smith-Lemli-Opitz Syndrome |
|
Gastrointestinal dysmotility, Abnormal lung lobation, Gastroesophageal reflux, Atrial septal defe... |
OMIM:270400 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
Severe Congenital Nemaline Myopathy |
|
Pulmonary hypoplasia, Dysphagia |
ORPHA:171430 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Ventricular septal defect, Abnormal lung morphology, A... |
ORPHA:1708 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia |
ORPHA:1486 |
Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:145420 |
Distal Triplication 15Q |
|
Abnormal heart morphology, Hydrocele testis, High palate, Pulmonary hypoplasia, Atrial septal defect |
ORPHA:314588 |
Odontochondrodysplasia 1 |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:184260 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation, Pulmonary hypoplasia, Cleft palate |
OMIM:608022 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Dysphagia |
OMIM:617301 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Cardiomegaly, Recurrent pneumonia, Bronchiectasis, Abnormal hea... |
ORPHA:980 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cryptorchidism, Pulmonary hypoplasia, Cleft palate, Abnormal heart morphology |
ORPHA:1865 |
Asparagine Synthetase Deficiency |
|
Tremor, Irritability, Exaggerated startle response, Gastroesophageal reflux |
OMIM:615574 |
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 8 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia |
OMIM:615503 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, High palate, Dystonia |
ORPHA:438216 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Aortopulmonary window, Hypoplastic l... |
ORPHA:99050 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Cleft palate, Pulmonary hypoplasia, Pulmonary artery... |
ORPHA:1692 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Pneumothorax, Pulmonary hypoplasia, Cardiomegaly |
OMIM:620306 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Pagod Syndrome |
|
Situs inversus totalis, Abnormality of the spleen, Pulmonary artery hypoplasia, Hypoplastic left ... |
ORPHA:991 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Complete atrioventricular canal... |
OMIM:617925 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Tracheoesophageal fistula, High palate,... |
ORPHA:958 |
Meckel Syndrome 14 |
|
Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Single ventricle |
OMIM:619879 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Exaggerated startle response, High palate, Dystonia |
ORPHA:521426 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Cryptorchidism, Cleft palate, High palate, Abnormal aortic valve morphology, Pulmonary hypoplasia... |
ORPHA:2990 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Pulmonary hypoplasia |
OMIM:236500 |
Platyspondylic Dysplasia, Torrance Type |
|
Pulmonary hypoplasia, Cleft palate |
ORPHA:85166 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Cryptorchidism, Cleft palate, Tongue nodules, Glossoptosis, Pulmona... |
ORPHA:2886 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Cryptorchidism, Pyloric stenosis, Abnormality o... |
ORPHA:818 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Intestinal malrotation, Malformation of the hepatic ductal plate, Asplenia, Spl... |
OMIM:249000 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response |
OMIM:617281 |
Renal Agenesis, Bilateral |
|
Pulmonary hypoplasia, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate |
ORPHA:1848 |
Genitopatellar Syndrome |
|
Atrial septal defect, Cryptorchidism, Gastroesophageal reflux, Pulmonary hypoplasia |
ORPHA:85201 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia, Bicuspid aortic valve, Ventricular septal defect, Cryptor... |
ORPHA:438213 |
Lethal Congenital Contracture Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:253310 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, High palate, Dysphagia |
OMIM:617527 |
Dpagt1-Cdg |
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Elevated hepatic transaminase, Hepatomegaly, Aggressive behavior, Tremor, Head-banging, Stereotyp... |
ORPHA:86309 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Tetrasomy 5P |
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Recurrent respiratory infections, High palate, Pulmonary hypoplasia |
ORPHA:3309 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Tetraamelia Syndrome 1 |
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Asplenia, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia, Adrenal gland ... |
OMIM:273395 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Pyloric stenosis, Cl... |
ORPHA:83617 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
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Cryptorchidism, Pulmonary hypoplasia |
OMIM:224410 |
Oligomeganephronia |
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Secundum atrial septal defect, Polydipsia, Pulmonary venous occlusion, Pulmonary hypoplasia |
ORPHA:2260 |
Distal Deletion 15Q |
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Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... |
ORPHA:1596 |
Renal Agenesis |
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Ventricular septal defect, Pulmonary hypoplasia, Anal atresia |
ORPHA:411709 |
Congenital Myopathy 22B, Severe Fetal |
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Hepatomegaly, Pleural effusion, High palate, Pulmonary hypoplasia |
OMIM:620369 |
Thanatophoric Dysplasia, Type I |
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Pulmonary hypoplasia |
OMIM:187600 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect... |
ORPHA:99125 |
Vacterl With Hydrocephalus |
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Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Pulmonary hypoplasia, Anal atresia |
ORPHA:3412 |
Tetrasomy 9P |
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Absent gallbladder, Hyperactivity, Pericarditis, Dextrocardia, Cryptorchidism, Jaundice, Biliary ... |
ORPHA:3310 |
Thoracoabdominal Syndrome |
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Ectopia cordis, Pulmonary hypoplasia, Transposition of the great arteries, Cleft palate |
OMIM:313850 |
Joubert Syndrome 21 |
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Splenomegaly, Pulmonary hypoplasia, Dysphagia |
OMIM:615636 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Peritonitis, Pulmonary hypoplasia, Microcolon, Ileal atresia |
OMIM:619351 |
Greenberg Dysplasia |
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Hepatomegaly, Abnormal lung lobation, Hepatic calcification, Hepatosplenomegaly, Pancreatic islet... |
OMIM:215140 |
Renal Hypodysplasia/Aplasia 1 |
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Pulmonary hypoplasia |
OMIM:191830 |
Maternal Uniparental Disomy Of Chromosome 2 |
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Bilateral cryptorchidism, Pulmonary hypoplasia, Respiratory infections in early life, Decreased r... |
ORPHA:96179 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Hamartoma of tongue, Cryptorchidism, Cleft palate, Lobulated tongue, Pulmonary hypoplasia, Bifid ... |
OMIM:616300 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Torticollis, Repeated pneumothoraces, Atelectasis, Mitral valve prolapse, High palate, Pulmonary ... |
ORPHA:536467 |
Otopalatodigital Syndrome Type 2 |
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Abnormal heart valve morphology, Cleft palate, Glossoptosis, Abnormal cardiac septum morphology, ... |
ORPHA:90652 |
Penile Agenesis |
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Ventricular septal defect, Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal f... |
ORPHA:49 |
Neu-Laxova Syndrome |
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Submucous cleft hard palate, Cleft palate, Opisthotonus, Pulmonary hypoplasia, Bifid uvula |
ORPHA:2671 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Hepatomegaly, Ventricular septal defect, Cryptorchidism, Aortopulmonary window, Pulmonary artery ... |
OMIM:620025 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
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Pulmonary hypoplasia |
OMIM:151210 |
Viss Syndrome |
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Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage... |
OMIM:619472 |
Orofaciodigital Syndrome Type 4 |
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Decreased testicular size, Recurrent respiratory infections, Monorchism, High, narrow palate, Sub... |
ORPHA:2753 |
Congenital Myopathy 17 |
|
Respiratory tract infection, High palate, Pulmonary hypoplasia, Cleft palate |
OMIM:618975 |
Schinzel-Giedion Syndrome |
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Streak ovary, Myeloid leukemia, Aganglionic megacolon, Recurrent pneumonia, Abnormal heart morpho... |
ORPHA:798 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Irritability, Exaggerated startle response, Dysphagia |
OMIM:618367 |
Stuve-Wiedemann Syndrome 1 |
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Pulmonary arterial medial hypertrophy, Smooth tongue, Pulmonary hypoplasia, Dysphagia |
OMIM:601559 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
OMIM:267430 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Agenesis of pineal gland, Abnormal heart valve morphology, Cryptorchidism, Cleft palate, Pulmonar... |
ORPHA:536471 |
Microcephaly-Micromelia Syndrome |
|
Pulmonary hypoplasia, Cleft palate |
OMIM:251230 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
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Abnormal cardiac septum morphology, Pulmonary hypoplasia, Thyroid hypoplasia, Single ventricle |
OMIM:308050 |
Fontaine Progeroid Syndrome |
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Atrial septal defect, Absent nipple, Bicuspid aortic valve, Protruding tongue, Cryptorchidism, Hi... |
OMIM:612289 |
Mckusick-Kaufman Syndrome |
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Aganglionic megacolon, Cryptorchidism, Rectovaginal fistula, Pulmonary hypoplasia, Anal atresia |
OMIM:236700 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:86822 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Cleft palate, Pulmonary hypoplasia, Hamartoma of tongue |
OMIM:616546 |
Atelosteogenesis Type Ii |
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Bilateral cleft palate, Pulmonary hypoplasia, Cleft palate |
ORPHA:56304 |
Multiple Pterygium Syndrome, Escobar Variant |
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Cryptorchidism, Cleft palate, High palate, Pulmonary hypoplasia, Hypoplastic nipples |
OMIM:265000 |
Achondrogenesis, Type Ia |
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Pulmonary hypoplasia, Protruding tongue |
OMIM:200600 |
Raine Syndrome |
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High palate, Pulmonary hypoplasia, Cleft palate, Protruding tongue |
OMIM:259775 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Hepatomegaly, Atrial septal defect, Ventricular septal defect, Cryptorchidism, Pulmonary artery s... |
ORPHA:96334 |
Fraser Syndrome 1 |
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Abnormal small intestine morphology, Cryptorchidism, Cleft palate, Abnormal heart morphology, Abn... |
OMIM:219000 |
Achondroplasia |
|
Pulmonary hypoplasia |
OMIM:100800 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Ventricular septal defect, Cryptorchidism, Hydrocele testis, High p... |
OMIM:619522 |
Genitopatellar Syndrome |
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Anal stenosis, Ventricular septal defect, Cryptorchidism, Malrotation of small bowel, Anteriorly ... |
OMIM:606170 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, High palate, Pulmonary hypoplasia, Narrow palate |
OMIM:200980 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Pulmonary hypoplasia, Anal atresia |
OMIM:271520 |
Osteogenesis Imperfecta |
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Abnormal endocardium morphology, Intestinal obstruction, Mitral valve prolapse, Pulmonary hypopla... |
ORPHA:666 |
Restrictive Dermopathy |
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Dextrocardia, Aplasia/Hypoplastia of the eccrine sweat glands, Submucous cleft hard palate, Trans... |
ORPHA:1662 |
Blomstrand Lethal Chondrodysplasia |
|
Pulmonary hypoplasia, Protruding tongue |
ORPHA:50945 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Congenital hepatic fibrosis, Esophageal atresia, Cryptorchidism, Ectopic anus, Pulmonary hypoplas... |
ORPHA:93271 |
Fraser Syndrome |
|
Anal stenosis, Cryptorchidism, Abnormal lung lobation, Ectopic anus, High palate, Pulmonary hypop... |
ORPHA:2052 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Cryptorchidism, Cleft palate, Transposition of the great arteries, Pul... |
OMIM:256520 |
Microphthalmia, Syndromic 1 |
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Bicuspid aortic valve, Aganglionic megacolon, Aggressive behavior, Cryptorchidism, High, narrow p... |
OMIM:309800 |
Fetal Akinesia Deformation Sequence 1 |
|
Cryptorchidism, High, narrow palate, Cleft palate, High palate, Pulmonary hypoplasia |
OMIM:208150 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Pulmonary hypoplasia, Persistent cloaca |
ORPHA:1112 |
Restrictive Dermopathy 1 |
|
Atrial septal defect, Submucous cleft hard palate, Pulmonary hypoplasia |
OMIM:275210 |
Lethal Congenital Contracture Syndrome 9 |
|
Pulmonary hypoplasia |
OMIM:616503 |
Ulbright-Hodes Syndrome |
|
Cryptorchidism, Pneumothorax, High palate, Pulmonary hypoplasia |
ORPHA:3404 |
Pallister-Killian Syndrome |
|
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Supernumerary nipple, Cryptorch... |
OMIM:601803 |
Craniofacial Microsomia 1 |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonary hypoplasia, Cleft palate |
OMIM:164210 |