Gene Summary

Hedgehog-interacting protein
Hhip1,  Hip1,  Hip

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mean corpuscular hemoglobin concentration Hhiptm1Icmb HET Early adult 1.21×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Hhip mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hhip by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Ground-glass opacification, ... OMIM:619773
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Elevated c... OMIM:610978
Bronchogenic Cyst
Abnormal peritoneum morphology, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneu... ORPHA:2357
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema, Dyspnea, Chronic pulmonary ob... OMIM:613490
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... ORPHA:79126
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Abnormal pulmonary thoracic imaging finding, Crackles,... ORPHA:2902
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Pulmon... ORPHA:3032
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Abnormality of the liver, Respiratory failure ORPHA:132
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Immunodeficiency 54
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Adrenoco... OMIM:609981
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacif... ORPHA:99931
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnor... OMIM:620233
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Maternal diabetes, Atelectasis... ORPHA:70588
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Diabetic ketoacidosis, Respiratory failure,... ORPHA:70578
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Hepatosplenomegaly, Respiratory failure, Dyspha... ORPHA:2590
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq... OMIM:265120
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Aspi... ORPHA:90117
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Diabetes mellitus, Neutrophilia, Pneumonia, Cough, Nonproductive cough, Dys... ORPHA:36238
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Asplenia, Atelectasis, Situs inversus totalis, Bronchiect... OMIM:244400
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly, Dyspnea, Pneumothorax, Mediastinal lymphadenopathy, Bronchiectasis, A... OMIM:612387
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... ORPHA:79127
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Ground-glass opacification, Productive cough, Nonpr... ORPHA:454836
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Death in infancy, Splenomegaly, Leukocytosis, Intraalveolar pho... OMIM:618042
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Atel... OMIM:300219
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Death in infancy, Bone-marrow foam cells, Splenomega... OMIM:607625
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocyt... ORPHA:3226
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure, Adrenal insufficiency, Hepatic steatosis, Pancreatitis OMIM:619386
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Recurren... OMIM:608647
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Anemia OMIM:620321
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Exertional dyspnea ORPHA:254361
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Bronchial breath sound, Diabetes mellitus, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory... ORPHA:449280
Matthew-Wood Syndrome
Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, ... ORPHA:2470
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, ... OMIM:618278
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery, Duodenal atresia ORPHA:1203
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Respiratory failure, High palat... OMIM:611890
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Cleft palate, Respiratory insufficiency, Restrictive ventilatory defect, Re... OMIM:614399
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Respiratory failure ORPHA:890
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure, Dysphagia OMIM:616867
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Death in infancy, Adrenal hypoplasia, Atelectasis, Rectal prolapse, Recurrent p... OMIM:613177
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Atelectasis, Splenomegaly, Recurrent pneumonia, Lymphadenitis, Air b... OMIM:306400
Sinusitis, Acute infectious pneumonia, Air crescent sign, Unusual gastrointestinal infection, Col... ORPHA:73263
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... OMIM:208540
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Intestinal malrotation, Hamartoma of tongue, Splenomegaly, Atelectasis, Hydrocephal... OMIM:269860
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir... ORPHA:60025
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Dysphagia OMIM:615348
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Microphthalmia, Syndromic 12
Intestinal malrotation, Cryptorchidism, Cleft palate, Pulmonary hypoplasia, Neonatal death OMIM:615524
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Emphysema, Hepatitis, Jaundice ORPHA:60
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys... ORPHA:133
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Parathyroid adenoma, Emphysema, Medullary thyroid carcinoma ORPHA:122
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Farber Disease
Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmona... ORPHA:333
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... ORPHA:234
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion... OMIM:167800
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure, Median cleft lip and palate ORPHA:1832
Congenital Myopathy 21 With Early Respiratory Failure
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia OMIM:620326
Congenital Myopathy 14
Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Respiratory failure, H... OMIM:618414
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure, Dysphagia OMIM:225753
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Cirrhosis, Portal hypertension OMIM:210050
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Pneumonia, Respiratory tract infection, Atelectas... ORPHA:51636
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax... ORPHA:538
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Gastrointestinal dysmotility, Respiratory failure, Dysphagia OMIM:618637
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Cryptorchidism, Respiratory failure, Respiratory insufficiency ORPHA:370968
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... OMIM:263200
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Death in infancy, Tachypnea, Respiratory insufficiency, Hyper... OMIM:614299
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Hyperekplexia 4
Umbilical hernia, Respiratory failure, High palate OMIM:618011
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Gastroesophageal reflux, Respiratory failure, Hepatic steatosis, Dysphagia ORPHA:70472
Reynolds Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Respiratory insufficiency... ORPHA:779
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:619003
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Normocytic anemia, Hemolytic anemia, Macrocytic anemia, R... OMIM:615512
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Abnorma... OMIM:615415
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Respirato... ORPHA:308552
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood OMIM:614096
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Hyperhidrosis, Respir... OMIM:245400
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis ORPHA:896
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Hepatocellular n... OMIM:256000
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Meckel diverticulum, Intestinal malrotation, Situs inversus totalis, Abnormality of the spleen, H... ORPHA:1666
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperinsulinemia, Respiratory failure, Cirrhosis, Hepatic steatosis ORPHA:363400
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Recurrent respiratory infections, Hypoparathyroidism, Thyroid hemiagenesis, R... ORPHA:209905
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Pneumothorax, Respiratory failure, Bone marrow hypocellularity, Infection asso... ORPHA:445038
Pallister-Hall-Like Syndrome
Death in infancy, Occipital encephalocele, Hydrocephalus, Microglossia, Cleft palate, Pulmonary h... OMIM:241800
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Apnea, Splenomegaly, Dyspnea, Respiratory failure, Pulmon... OMIM:615636
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth, A... OMIM:276950
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Mirage Syndrome
Lymphopenia, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Esophageal stric... OMIM:617053
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Common Variable Immunodeficiency
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastr... ORPHA:1572
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Atelectasis, Fulminant hepatitis, Odynophagia, Nonproductive coug... ORPHA:319213
Nephronophthisis 2
Situs inversus totalis, Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Peritonitis, Gastrointes... ORPHA:679
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal dea... OMIM:614922
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Perlman Syndrome
Hepatomegaly, High, narrow palate, Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology ORPHA:2849
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Dyspnea... ORPHA:2759
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Respiratory failure, Death in infancy OMIM:610678
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Cryptorchidism, Alveolar capillary dysplasia, Multilobulated splee... OMIM:601186
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Splenomegaly, Pulmonary hypoplasia, Intestinal malrotation ORPHA:3035
Snakebite Envenomation
Epistaxis, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory failure, Respiratory para... ORPHA:449285
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Protruding tongue, Atelectasis, Intercostal muscle weakness, Respiratory insuffi... ORPHA:258
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Eosinophilia, Atelectasis, Cleft palate, Cough ORPHA:2314
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Productive cough, Situs inversus totalis... OMIM:615067
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen, Dysphagia ORPHA:89844
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Cleft palate ORPHA:2631
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Meckel Syndrome, Type 6
Absent gallbladder, Occipital encephalocele, Hydrocephalus, Bilobed right lung, Anencephaly, Clef... OMIM:612284
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Respiratory failure, Death in infancy, Cryptorchidism ORPHA:1194
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... OMIM:615710
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen... OMIM:616100
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Orthopnea, Respiratory tract infection, Atelectasis, Respirat... ORPHA:365
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency OMIM:601612
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, ... ORPHA:436159
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Respiratory failure, Dysphagia OMIM:613435
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... ORPHA:98905
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia, Adrenal hypoplasia OMIM:613124
Intermediate Nemaline Myopathy
High, narrow palate, Respiratory failure, Dysphagia ORPHA:171433
Lymphatic Malformation 12
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Hydrocele testis, Neonat... OMIM:620014
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Asthma, Pneumothorax, Tac... ORPHA:2257
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia, Absent uvula OMIM:616531
Respiratory distress, Liver abscess, Pneumonia, Productive cough, Nonproductive cough, Peritoniti... ORPHA:31204
Congenital Diaphragmatic Hernia
Respiratory distress, Intestinal malrotation, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, High palate, Respiratory insufficiency OMIM:615330
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defe... ORPHA:26791
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Recurrent pneumonia, Cleft palate, Respiratory failure, High palat... OMIM:620249
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... ORPHA:95430
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Respiratory... OMIM:220110
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
22Q11.2 Deletion Syndrome
Anorectal anomaly, Abnormal lung lobation, Hypoplasia of the thymus, Gastroesophageal reflux, Hyp... ORPHA:567
Neuropathy, Congenital Hypomyelinating, 3
Narrow palate, Respiratory insufficiency, Respiratory failure, Gastroesophageal reflux, High pala... OMIM:618186
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Thrombocytopenia, Pulmonary fibrosis, Type I diabetes mellit... OMIM:620365
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Respiratory failure, Death in infancy OMIM:614862
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Intestinal malrotation, Portal hypertension, Cough, Tachypnea, Esophageal varix, Ab... OMIM:613658
Atelosteogenesis, Type Ii
Death in infancy, Respiratory insufficiency, Cleft palate, Stillbirth, Pulmonary hypoplasia OMIM:256050
Gracile Bone Dysplasia
Death in infancy, Asplenia, Hydrocephalus, Hypoplastic spleen, Ankyloglossia OMIM:602361
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Testicular atrophy, Pulmonary hypoplasia OMIM:601163
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Gastritis, Perianal abscess, Bronchiectasis, T lymphocytopenia,... OMIM:618108
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia, Dysphagia ORPHA:171430
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, High pala... ORPHA:98913
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Pulmonary hypoplasia OMIM:618174
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Intercost... ORPHA:70
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia... ORPHA:210122
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Hemolytic anemia, Gastritis, Splenomegaly, Dyspnea, Me... ORPHA:809
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes mellitus, Abnormal... ORPHA:125
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tachypnea, Anomalous pulmonary ... ORPHA:555874
Digeorge Syndrome
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus... OMIM:188400
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Death in infancy, Polycystic liver disease, Pancreatic fibrosis... OMIM:208500
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Respiratory insufficiency due to muscle weakness, Dyspnea, Respir... ORPHA:352447
Riddle Syndrome
Generalized lymphadenopathy, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnor... ORPHA:420741
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Cryptorchidism, Respiratory insufficiency, Pulmonary hypoplasia, Neonata... OMIM:224410
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Abnormality of the gastrointestinal tract, Respiratory failure, Protein-losing enteropathy ORPHA:79327
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto... OMIM:259720
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Dyspnea, Emphysema, Lymphadenopathy, Restrictive ventilatory defect, ... ORPHA:36412
Geleophysic Dysplasia 3
Dyspnea, Hepatomegaly, Respiratory failure, Pneumonia OMIM:617809
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Respiratory failure, Restrictive ventilatory defect, Dysphagia OMIM:606612
Atelosteogenesis Type I
Malrotation of colon, Abnormal pancreatic duct morphology, Pulmonary hypoplasia, Cleft palate ORPHA:1190
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, High palate, Pulmonary hypoplasia OMIM:617468
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyposegmentation of neutrophil nuclei, Submucous ... ORPHA:250999
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Neonatal respiratory distress, Death in infancy, Apnea, Lipid accumulation in hepat... OMIM:608836
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypoplasia... ORPHA:1335
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea, Hyperhidrosis, Respiratory failure, Inspiratory stridor, Ventilator dependence with in... OMIM:604320
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Hydrocephalus, Respiratory insufficie... ORPHA:536467
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
Relapsing Polychondritis
Atelectasis, Dyspnea, Hepatitis, Anteriorly placed anus, Cough, Abnormal pattern of respiration ORPHA:728
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, High palate, Pulmonary hypoplasia, Respiratory insufficiency OMIM:255320
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Anemia, Death in childhood OMIM:615838
Peripartum Cardiomyopathy
Orthopnea, Diabetes mellitus, Abnormality of thyroid physiology, Crackles, Dyspnea, Asthma, Respi... ORPHA:563
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Cough, Splenomegaly, Dyspnea, Emphysema,... OMIM:181000
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Pulmonary hypoplasia OMIM:615503
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Death in childhood, Respiratory failure, High palate, Chy... OMIM:620278
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Respiratory failure, Thrombocytopenia ORPHA:83313
Maternal Uniparental Disomy Of Chromosome 2
Neonatal respiratory distress, Miscarriage, Decreased response to growth hormone stimulation test... ORPHA:96179
Feingold Syndrome
Abnormality of the spleen, Annular pancreas, Esophageal atresia, Duodenal atresia ORPHA:1305
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Cryptorchidism, Respiratory insufficiency, Cleft palate, Pulmonary hypoplasia ORPHA:994
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Agnathia-Otocephaly Complex
Respiratory distress, Situs inversus totalis, Aglossia, Cleft palate, Pulmonary hypoplasia, Holop... OMIM:202650
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Diabetes mellitus, Thrombocytopenia, Respiratory insufficiency, Leukopenia, Respira... OMIM:613845
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Dysphagia OMIM:613954
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation, Dysphagia OMIM:618233
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Isomerism, Pulmonary hypoplasia, Ne... OMIM:314390
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Intestinal malrotation, Hypoxemia, Pulmonary hypoplasia, Pulmonary... ORPHA:2847
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Mesenteric cyst, Intestinal malrotation, Cryptorchidism, Gastro... OMIM:618316
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Jaundice, Pulmonary hypoplasia, Neonatal death, Hepatic perip... OMIM:231680
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells OMIM:618307
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Respiratory insufficiency, Cholestasis, Respiratory failure, Diffuse hepatic ... ORPHA:746
Muscular Dystrophy, Congenital, With Or Without Seizures
Type I diabetes mellitus, Respiratory failure, Respiratory distress, Dysphagia OMIM:620166
Anemia, Emphysema, Respiratory insufficiency ORPHA:436
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency, Cholestasis OMIM:609015
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of the liver, Respiratory failure, Hepatocellular carcinoma ORPHA:88618
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, High palate, Hypoplasti... ORPHA:2437
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Abnormal lung lobation, Pulmonary hypoplasia OMIM:263210
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Pagod Syndrome
Encephalocele, Death in infancy, Spina bifida, Situs inversus totalis, Abnormality of the spleen,... ORPHA:991
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Pu... OMIM:608013
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Asplenia, Thrombocytopenia, Hypoplastic spleen, Anemia OMIM:185070
Abnormality of the gastrointestinal tract, Abnormality of the endocrine system, Macroglossia, Neu... ORPHA:79321
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Spina bifid... OMIM:618291
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Death in childhood, Cryptorchidism, Respiratory failure, Dysphagia OMIM:619847
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Stillbirth, Pulmonary hypoplasia, Hydranencephaly OMIM:236500
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Hyperparathyroidism, Death in infancy, Malabsorption, Atelectas... ORPHA:534
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia OMIM:616733
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Hydrocephalus, Respiratory failure, Gastroesophageal reflux,... OMIM:616482
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Jaundice, Respirato... ORPHA:646
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... ORPHA:64744
Spinocerebellar Ataxia Type 1
Respiratory failure, Dysphagia ORPHA:98755
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Myelopathy, Bradypnea, Respiratory failure, Cervical myelopathy, Death in childhood OMIM:617186
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Pancreatic endocrine tumor, Pituitary adenoma,... ORPHA:805
Tonne-Kalscheuer Syndrome
Cryptorchidism, Velopharyngeal insufficiency, Pulmonary hypoplasia, Dysphagia, Decreased testicul... OMIM:300978
Respiratory distress, Liver abscess, Miscarriage, Pneumonia, Jaundice, Peritonitis, Hepatic granu... ORPHA:533
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroid... ORPHA:227982
Esophageal Atresia
Respiratory distress, Bronchitis, Maternal diabetes, Gastrointestinal dysmotility, Anorectal anom... ORPHA:1199
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Bile duct proliferation, Macrovesicular hepatic steatosis, Respiratory insuf... OMIM:618329
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Death in infancy, Neutropenia, Steatorrhea, Death in childhood, ... OMIM:617941
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni... ORPHA:227990
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Radio-Renal Syndrome
Respiratory distress, High, narrow palate, Dyspnea, Respiratory failure, Chylothorax, Pleural eff... ORPHA:3015
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... ORPHA:699
Achondrogenesis Type 2
Pulmonary hypoplasia, Cardiorespiratory arrest ORPHA:93296
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Congenital pulmonary airway mal... OMIM:611812
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Jaundice, Neutropenia, Hypopnea, Respiratory failure, Dysphagia, Neonata... OMIM:617248
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Miscarriage, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Cleft palat... ORPHA:1865
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Respiratory distress, Respiratory insufficiency, Cleft palate, Abnormal liver lobulation, Pulmona... OMIM:608022
Thanatophoric Dysplasia
Hydrocephalus, Pulmonary hypoplasia, Respiratory insufficiency ORPHA:2655
Arterial Tortuosity Syndrome
Respiratory distress, Hiatus hernia, Pyloric stenosis, Pulmonary artery stenosis, Dyspnea, Cardio... ORPHA:3342
Kagami-Ogata Syndrome
Splenomegaly, Hepatomegaly, Pulmonary hypoplasia, Pulmonary arterial hypertension OMIM:608149
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Xerostomia, Abnormal respiratory system physiology ORPHA:803
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Narrow palate OMIM:616505
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Abnormal lung lobation, Neonatal death, Neonatal respiratory distress, Esophageal atres... OMIM:265380
Pancreatic Agenesis 2
Diabetes mellitus, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic in... OMIM:615935
Meacham Syndrome
Accessory spleen, Death in infancy, Partial anomalous pulmonary venous return, Cardiac total anom... OMIM:608978
Meckel Syndrome 14
Occipital encephalocele, Pneumothorax, Cardiorespiratory arrest, Hepatic fibrosis, Pulmonary hypo... OMIM:619879
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in... OMIM:610505
Fraser Syndrome 2
Intestinal malrotation, Rectal atresia, Respiratory failure, Hypoplasia of the thymus, Anal atresia OMIM:617666
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:187600
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Splenomegaly, Thromboc... ORPHA:2072
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Anal stenosis, Recurrent respiratory infections, Hemolytic an... ORPHA:647
Fryns Syndrome
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Esophag... OMIM:229850
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Ileal atresia, Peritonitis, Elevated pulmonar... OMIM:619351
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Iron deficiency anemia, Colitis, Neutropenia, Hypothyroidism, Hyperthyroidi... ORPHA:37042
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Sandestig-Stefanova Syndrome
Respiratory failure, High palate OMIM:618804
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia, Dys... ORPHA:496641
Wolfram Syndrome
Gastrointestinal hemorrhage, Central apnea, Diabetes mellitus, Malabsorption, Abnormal mesentery ... ORPHA:3463
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, High, narrow palate, Respiratory failure, Dyspnea ORPHA:2707
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Hematemesis, Dyspnea, Leukocytosis, Thrombocytopenia,... ORPHA:340
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Hepatomegaly, Reticulocytosis, Acanthocytosis, Hypothyroidism, Respiratory failure, Hepatic fibro... ORPHA:14
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Hepatic fibrosis,... OMIM:263520
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo... ORPHA:456312
Tetraamelia Syndrome 1
Asplenia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia,... OMIM:273395
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure ORPHA:1861
Chand Syndrome
Atelectasis, Bifid tongue, Cleft palate, Hypohidrosis ORPHA:1401
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy OMIM:184260
Serkal Syndrome
Malrotation of small bowel, Pulmonary hypoplasia, Abnormality of the adrenal glands ORPHA:139466
Respiratory failure requiring assisted ventilation, Paralytic ileus, Respiratory failure, Dysphag... ORPHA:2912
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Lethal Congenital Contracture Syndrome 10
Narrow palate, Macroglossia, High palate, Hypoplasia of the thymus, Pulmonary hypoplasia OMIM:617022
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Hypohidrosis, High palate, Pulmonary hypoplasia, Dysphagia OMIM:616866
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula... OMIM:619708
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Villous atrophy, Sideroblastic anemia, Pancreatic fibrosis, Pancytopenia, Malabsorp... OMIM:557000
Marden-Walker Syndrome
Cryptorchidism, High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Ellison syndrome, ... OMIM:248700
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Death in infancy, Apnea, Splenomegaly, Respiratory insufficiency, Respiratory failure OMIM:252010
Igg4-Related Submandibular Gland Disease
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Prostatiti... ORPHA:449432
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short uvula, Cleft palate, High palate, Hepatic fibrosis, Pulmonary hypoplasia OMIM:614091
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Respiratory insufficiency OMIM:267430
Autoimmune Lymphoproliferative Syndrome
Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-neg... ORPHA:3261
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Cryptorchidism, Cleft palate, High palate, Pulmonary hypoplasia, Holoprosen... OMIM:612530
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Meckel Syndrome
Accessory spleen, Encephalocele, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia,... ORPHA:564
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Congenital Tracheal Stenosis
Respiratory distress, Meckel diverticulum, Abnormal stomach morphology, Neonatal asphyxia, Abnorm... ORPHA:141127
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Neonatal respiratory distress, Adrenal hypoplasia,... OMIM:214100
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Hamartoma of tongue, Cryptorchidism, Cleft palate, Respiratory insufficiency, Lobu... OMIM:616300
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Allergic rhinitis, Asthma, Hydrocephalus, High pala... OMIM:618162
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Respiratory failure OMIM:620327
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Cryptorchidism, Pyloric stenosis, Anencephaly, Anteriorly placed anus, High palate... OMIM:619148
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Miscarriage, Cryptorchidism, Pulmonary artery stenosis, Large placenta, Hepatosplen... ORPHA:96334
Refractory anemia, Diabetes mellitus, Abnormal pancreas morphology, Hypochromic microcytic anemia... ORPHA:48818
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Delayed puberty, Neutropenia, Inflammation of th... OMIM:232220
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Cryptorchidism, Esophageal atresia, Hydrocephalus, Tracheoesop... ORPHA:3412
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Diabetes mellitus, Intestinal pseudo-obstruct... ORPHA:273
Jacobsen Syndrome
Recurrent respiratory infections, Pyloric stenosis, Cryptorchidism, Hydrocephalus, Holoprosenceph... OMIM:147791
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Gastroesophageal reflux ORPHA:206436
Costello Syndrome
Pyloric stenosis, Hydrocephalus, Pneumothorax, Respiratory insufficiency, Macroglossia, Respirato... OMIM:218040
Caudal Regression Syndrome
Cryptorchidism, Pulmonary hypoplasia, Anal atresia, Maternal diabetes ORPHA:3027
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Hydrocephalus, High palate, Pulmonary hyp... ORPHA:3309
Greenberg Dysplasia
Hepatomegaly, Large placenta, Abnormal lung lobation, Hepatic calcification, Hepatosplenomegaly, ... OMIM:215140
Autosomal Recessive Multiple Pterygium Syndrome
Neonatal respiratory distress, Cryptorchidism, Cleft palate, High palate, Pulmonary hypoplasia, H... ORPHA:2990
Meier-Gorlin Syndrome 4
Cryptorchidism, Emphysema, Breast hypoplasia OMIM:613804
Leigh Syndrome
Gastrointestinal dysmotility, Dysphagia, Respiratory failure, Neutropenia, Abnormal pattern of re... ORPHA:506
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure, Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea, Dysphagia OMIM:617301
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Death in infancy, Microvesicular hepatic steatosis, Respiratory failure, High palat... OMIM:300868
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Esophageal stricture, Pneumothorax, Gastrointestinal in... ORPHA:79404
Jacobsen Syndrome
Recurrent respiratory infections, Death in infancy, Intestinal malrotation, Spina bifida, Cryptor... ORPHA:2308
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro... OMIM:617052
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism... ORPHA:83617
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Cleft palate, Ectopic anus, High p... ORPHA:2059
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... ORPHA:185
Abnormal lung morphology, Increased T cell count, Leukopenia, Cough, Emphysema, Hypothyroidism, H... ORPHA:797
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pleural effusion, Pulmonary hypoplasia, Cleft palate OMIM:616897
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Gastrointestinal atresia, Trache... OMIM:164280
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Hepatic fibrosis, Steatorrh... OMIM:616263
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Pulmonary hypopla... OMIM:617925
Microcephaly-Micromelia Syndrome
Neonatal death, Pulmonary hypoplasia, Cleft palate, Aqueductal stenosis OMIM:251230
Trisomy 8P
Cryptorchidism, Hydrocephalus, Recurrent upper respiratory tract infections, Abnormal lung lobati... ORPHA:264450
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
Genitopatellar Syndrome
Cryptorchidism, Apnea, Gastroesophageal reflux, Pulmonary hypoplasia ORPHA:85201
Meckel Syndrome, Type 1
Accessory spleen, Occipital encephalocele, Intestinal malrotation, Malformation of the hepatic du... OMIM:249000
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Cryptorc... OMIM:616835
Ear-Patella-Short Stature Syndrome
Respiratory distress, Cryptorchidism, High, narrow palate, Submucous cleft hard palate, Dyspnea, ... ORPHA:2554
Williams Syndrome
Colonic diverticula, Recurrent respiratory infections, Death in early adulthood, Hypogonadotropic... ORPHA:904
Renal Agenesis, Bilateral
Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine morphology, Pulmonary hy... ORPHA:1848
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hepatomegaly, High palate, Pulmonary hypoplasia, Pleural effusion OMIM:620369
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Neonatal respiratory distress, Cryptorchidism, Aortopulmonary window, Pulmonary art... OMIM:620025
Distal Triplication 15Q
Hydrocele testis, Hydrocephalus, High palate, Pulmonary hypoplasia ORPHA:314588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Hydrocephalus OMIM:616538
Respiratory distress, Death in infancy, Hydrocephalus, Upper airway obstruction, Pulmonary hypopl... OMIM:100800
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Respiratory failure, Umbilical hernia, Large placenta ORPHA:254528
Meier-Gorlin Syndrome 7
Anal stenosis, Cryptorchidism, Cleft palate, Duodenal stenosis, Anteriorly placed anus, Breast ap... OMIM:617063
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia, Cleft palate OMIM:312150
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Esophageal atresia, Thrombocytopeni... OMIM:227646
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Pneumonia, Bronchitis, Ga... OMIM:619381
Schinzel-Giedion Syndrome
Respiratory distress, Streak ovary, Aganglionic megacolon, Myeloid leukemia, Recurrent pneumonia,... ORPHA:798
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia, Cleft palate ORPHA:85166
Mosaic Trisomy 1
Pulmonary artery atresia, Hepatic agenesis, Pulmonary hypoplasia, Cleft palate ORPHA:1692
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Unilateral lung agenesis, Gastrointestinal dysmotility, Cleft palate, Respira... ORPHA:500150
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Pulmonary hypoplasia OMIM:145420
Ulbright-Hodes Syndrome
Respiratory distress, Maternal diabetes, Cryptorchidism, Pneumothorax, Respiratory failure, High ... ORPHA:3404
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Cardiac-Urogenital Syndrome
Accessory spleen, Unilateral cryptorchidism, Intestinal malrotation, Tracheomalacia, Cryptorchidi... OMIM:618280
Congenital Myopathy 17
Respiratory tract infection, Respiratory insufficiency, Cleft palate, High palate, Pulmonary hypo... OMIM:618975
Tarp Syndrome
Extramedullary hematopoiesis, Apnea, Cryptorchidism, Cleft palate, Glossoptosis, Pulmonary hypopl... ORPHA:2886
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia, Cleft palate OMIM:253290
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Tracheoesophageal fistula, High palate,... ORPHA:958
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Cleft palate, Hydrocele testis, Gastroesophageal reflux, High palate, Pulmonary hy... OMIM:614080
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal pulmonary thoracic imaging finding, Orthopnea, Nonprod... ORPHA:980
Hepatomegaly, Villous atrophy, Asthma, Abnormal lung lobation, Periportal fibrosis, Hypoplasia of... ORPHA:79328
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Maternal diabetes, Large placenta, Abnormal lung morph... ORPHA:1708
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Adrenal hypoplasia, Stillbirth, Pulmonary hypoplasia, Umbilical hernia, Thyroid hypoplasia OMIM:308050
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Tachypn... ORPHA:3384
Bohring-Opitz Syndrome
Recurrent respiratory infections, Apnea, Cleft palate, Cholelithiasis, Annular pancreas ORPHA:97297
Stuve-Wiedemann Syndrome 1
Death in infancy, Apnea, Pulmonary arterial medial hypertrophy, Respiratory insufficiency, Hyperh... OMIM:601559
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Death in infancy, Aganglionic megacolon, Intestinal malrotation, Precocious puberty... OMIM:270400
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Lethal Acantholytic Erosive Disorder
Respiratory failure, Cleft palate ORPHA:158687
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Hydrocephalus, Respiratory failure, Abnormal rectum morphology, Ab... ORPHA:2556
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly, Pulmonary hypoplasia, Cleft palate OMIM:313850
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Emphysema, Abnormality of the pulmonary artery, Pulmo... ORPHA:363618
Raine Syndrome
Death in infancy, Protruding tongue, Hydrocephalus, Cleft palate, High palate, Pulmonary hypoplas... OMIM:259775
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Multiple Pterygium Syndrome, Escobar Variant
Neonatal respiratory distress, Cryptorchidism, Cleft palate, High palate, Hypoplastic nipples, Pu... OMIM:265000