Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis, Feeding difficulties in infancy, Upper airway obstruction, Neonatal r... |
OMIM:261800 |
Van Der Woude Syndrome 2 |
|
Cleft upper lip, Anodontia, Cleft palate |
OMIM:606713 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Upper airway obstruction, Cleft palate, Neonatal respiratory distress |
ORPHA:718 |
Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
Orofacial Cleft 10 |
|
Unilateral cleft lip, Unilateral cleft palate |
OMIM:613705 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Cholesterol Pneumonia |
|
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia |
OMIM:215030 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Hyperbilirubinemia |
OMIM:618660 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
Trehalase Deficiency |
|
Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting |
ORPHA:103909 |
Congenital Pancreatic Cyst |
|
Abdominal distention, Abdominal pain, Anorexia, Vomiting, Jaundice |
ORPHA:313906 |
Congenital Sucrase-Isomaltase Deficiency |
|
Diarrhea, Abdominal distention, Vomiting, Abdominal colic |
ORPHA:35122 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Dysphagia, Tongue fasciculations, Respiratory failure, Tongue atrophy |
OMIM:613435 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Erythroid hyp... |
OMIM:237800 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Cleft palate, Feeding difficulties, Aspiration pneumonia, Nasogastric tube ... |
ORPHA:141152 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
Geographic And Fissured Tongue |
|
Geographic tongue, Furrowed tongue |
OMIM:137400 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Death in infancy, Feeding difficulties, Cyanotic episode |
OMIM:610992 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Feeding difficulties, Cyanosis, Vomiting, Wheezing, Cough, Intercost... |
ORPHA:137935 |
Laryngotracheoesophageal Cleft |
|
Impaired oropharyngeal swallow response, Cyanosis, Cough, Aspiration, Neonatal respiratory distre... |
ORPHA:2004 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Feeding difficulties, Respiratory insufficiency, Central apnea, Death in infancy, Respiratory fai... |
OMIM:611722 |
Intestinal Dysmotility Syndrome |
|
High palate, Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased... |
OMIM:620045 |
Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Death in childhood, Respiratory failure, Tongue fasciculations |
OMIM:253300 |
Congenital Laryngomalacia |
|
Cleft palate, Non-midline cleft lip |
ORPHA:2373 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Dysphagia, Respiratory insufficiency |
OMIM:617892 |
Nemaline Myopathy 8 |
|
Dysphagia, Gastrostomy tube feeding in infancy, Respiratory failure, Death in infancy |
OMIM:615348 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Neonatal death |
OMIM:611369 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Cleft palate, Non-midline cleft lip |
ORPHA:1074 |
Colonic Atresia |
|
Abdominal distention, Colonic atresia |
OMIM:303650 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ... |
ORPHA:103907 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine |
OMIM:616868 |
Apnea, Central Sleep |
|
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration |
OMIM:207720 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Respiratory failure |
OMIM:208081 |
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Dysphagia, Respiratory insufficiency, High palate, Feeding difficulties |
OMIM:616323 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Nasogastric tube... |
ORPHA:90117 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Narrow mouth, Acrocyanosis, Cleft palate |
ORPHA:2901 |
Isolated Polycystic Liver Disease |
|
Abdominal distention, Gastroesophageal reflux, Abdominal pain, Respiratory insufficiency, Feeding... |
ORPHA:2924 |
Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis |
OMIM:219400 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration, Splen... |
OMIM:620010 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Dysphagi... |
ORPHA:266 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
Malaria |
|
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
Primary Effusion Lymphoma |
|
Dyspnea, Abdominal distention, Abdominal pain, Pleural effusion |
ORPHA:48686 |
Solar Urticaria |
|
Urticaria, Dermatographic urticaria, Wheezing, Angioedema, Nausea, Abnormal tongue morphology, Dy... |
ORPHA:97230 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, High palate, Gastroesophageal reflux, Cleft palate, Respiratory insufficien... |
OMIM:614399 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Jaundice, Death in infancy, Feeding difficulties in infancy |
OMIM:614876 |
Thyroid Hemiagenesis |
|
Constipation, Abdominal distention, Jaundice, Macroglossia |
ORPHA:95719 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Pontocerebellar Hypoplasia, Type 4 |
|
Dysphagia, Respiratory failure, Death in infancy, Feeding difficulties |
OMIM:225753 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Secretory diarrhea, ... |
OMIM:619445 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Tongue, Pigmented Fungiform Papillae Of |
|
Abnormality of the tongue |
OMIM:275250 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit |
OMIM:119300 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Dysphagia, Gastrointestinal dysmotility, Respiratory failure |
OMIM:618637 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... |
OMIM:601775 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
Cleft Palate, Isolated |
|
Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate |
OMIM:119540 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Laryngeal Abductor Paralysis |
|
Dysphagia, Cyanosis, Stridor |
OMIM:150260 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure, Feeding difficulties |
OMIM:616081 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
Adiposis Dolorosa |
|
Abdominal distention, Painful subcutaneous lipomas, Constipation |
OMIM:103200 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Cleft Palate-Lateral Synechia Syndrome |
|
Narrow mouth, Oral synechia, Cleft palate, Everted lower lip vermilion |
ORPHA:2016 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Abdominal distention, Feeding difficulties, Hepatic failure, Death in infancy, Jaundice |
OMIM:618528 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abdominal distention, Enterocolitis, Constipation, Vomiting, Abnormality of enteric ganglion morp... |
OMIM:142623 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Apnea, Feeding difficulties, Central hypoventilation, Episodic vomiting, Chronic constipation, Re... |
OMIM:619483 |
Tetraamelia Syndrome 2 |
|
Glossoptosis, Bilateral cleft lip, Ankyloglossia |
OMIM:618021 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation |
|
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Thin upper... |
OMIM:226440 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Orofaciodigital Syndrome V |
|
High palate, Hypodontia, Cleft palate, Feeding difficulties, Bifid tongue, Bifid uvula, Lobulated... |
OMIM:174300 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612653 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... |
OMIM:619868 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure, Feeding difficul... |
OMIM:605711 |
Volvulus Of Midgut |
|
Abdominal distention, Constipation, Neonatal intestinal obstruction, Intestinal malrotation, Volv... |
OMIM:193250 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure |
OMIM:263000 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Anorexia, Cyanosis, Crackles, Wheezing, Cou... |
ORPHA:1302 |
Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
Atresia Of Small Intestine |
|
Abdominal distention, Feeding difficulties, Intestinal malrotation, Vomiting, Intestinal hypoplas... |
ORPHA:1201 |
Athyreosis |
|
Feeding difficulties, Abdominal distention, Constipation, Macroglossia |
ORPHA:95713 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Narrow mouth, Constipation, Gastroesophageal reflux, Feeding difficulties, Abnormal esophagus mor... |
ORPHA:89842 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:616649 |
Puerto Rican Infant Hypotonia Syndrome |
|
High palate, Narrow palate, Constipation, Abdominal distention, Long philtrum, Open mouth, Chroni... |
OMIM:600096 |
Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis, Neonatal hyperbilirubinemia |
OMIM:130600 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Respiratory insufficiency, Respiratory failure |
OMIM:613869 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Gingival overgrowth, Gingival fibromatosis, Median cleft lip and palate, Dy... |
ORPHA:1832 |
Ectrodactyly-Cleft Palate Syndrome |
|
Cleft palate |
OMIM:129830 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... |
OMIM:616689 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia, Chronic constipation |
OMIM:619352 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Cleft upper lip, Atrophic gastritis, Cleft palate, Stomach cancer |
OMIM:137215 |
Choanal Atresia |
|
Respiratory distress, Feeding difficulties, Tracheomalacia, Cyanosis, Abnormal nasal mucus secret... |
ORPHA:137914 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Abdominal distention |
OMIM:174050 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:182900 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Cap Polyposis |
|
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,... |
ORPHA:160148 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Feeding difficulties in infancy, Recurrent pneum... |
ORPHA:254875 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dysp... |
OMIM:265120 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Jaundice, Abdominal pain |
ORPHA:890 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185000 |
Congenital Short Bowel Syndrome |
|
Abdominal distention, Intestinal atresia, Steatorrhea, Intestinal malrotation, Projectile vomitin... |
OMIM:615237 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
High palate, Feeding difficulties, Neonatal death, Respiratory failure, Respiratory insufficiency... |
OMIM:611890 |
Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Narrow mouth, Apnea, Cleft palate, Short mandibular rami, Glossoptosis, Mand... |
OMIM:614669 |
Kinsship Syndrome |
|
Wide mouth, Gingival overgrowth, Gastroesophageal reflux, Respiratory arrest, Short philtrum, Dow... |
OMIM:619297 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic anemia, Reticulocyt... |
OMIM:235700 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Poor appetite, Respiratory failure, Abdominal pain |
OMIM:616794 |
Primary Peritoneal Carcinoma |
|
Abdominal distention, Nausea and vomiting, Constipation, Abdominal pain |
ORPHA:168829 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Feeding difficulties, Poor suck, Death in infancy, Respiratory failure |
OMIM:616277 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Apnea, Feeding difficulties, Central hypoventilation, Dysphagia, Respiratory failure |
OMIM:618233 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Malabsorption, Constipation, Abdominal distention, Abdominal pain, Malnutrition, Intestinal pseud... |
OMIM:613662 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Tongue fasciculations, Respiratory failure |
OMIM:600561 |
Permanent Congenital Hypothyroidism |
|
Constipation, Abdominal distention, Feeding difficulties, Macroglossia, Jaundice |
ORPHA:226292 |
Achondrogenesis, Type Ib |
|
Abdominal distention, Respiratory insufficiency, Stillbirth |
OMIM:600972 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Constipation, Abdominal distention, Macroglossia, Feeding difficulties in i... |
ORPHA:226313 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy, Feeding difficulties |
OMIM:618240 |
Hartnup Disorder |
|
Glossitis, Cutaneous photosensitivity |
OMIM:234500 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:109270 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, ... |
OMIM:616278 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Feeding difficulties, Poor suck, Death in infancy, Respiratory failure |
OMIM:617248 |
Hypoglossia With Situs Inversus |
|
High palate, Respiratory distress, Narrow mouth, Hypodontia, Feeding difficulties in infancy, Upp... |
OMIM:612776 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia, Respiratory failure, Nasogastric tube feeding, Neonatal respiratory distress |
OMIM:619057 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Cleft Lip With Or Without Cleft Palate |
|
Non-midline cleft palate, Submucous cleft of soft and hard palate, Non-midline cleft lip |
ORPHA:1991 |
Plummer-Vinson Syndrome |
|
Narrow mouth, Cheilitis, Abdominal pain, Esophageal web, Intra-oral hyperpigmentation, Glossitis,... |
ORPHA:54028 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Reduced forced vital capacity, Cough, Intercostal retractions, Ta... |
ORPHA:91359 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Narrow mouth, Urticaria, Open bite, Abnormality of the dentition, Xer... |
ORPHA:2907 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Opitz Gbbb Syndrome |
|
High palate, Anal atresia, Ectopic anus, Hypodontia, Cleft palate, Tracheomalacia, Tracheoesophag... |
ORPHA:2745 |
Adducted Thumbs Syndrome |
|
High palate, Velopharyngeal insufficiency, High, narrow palate, Cleft palate, Respiratory insuffi... |
OMIM:201550 |
Asbestos Intoxication |
|
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Cyanosis... |
ORPHA:2302 |
Glycogen Storage Disease Vii |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increased total bilir... |
OMIM:232800 |
2Q24 Microdeletion Syndrome |
|
Abnormal oral frenulum morphology, Short philtrum, Cleft palate, Central apnea |
ORPHA:1617 |
Intermediate Nemaline Myopathy |
|
Dysphagia, Respiratory failure, Long philtrum, High, narrow palate |
ORPHA:171433 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Feeding difficulties, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
Enterocolitis |
|
Abdominal distention, Enterocolitis, Hematochezia, Ulcerative colitis |
OMIM:226150 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Splenomegaly, Hemolytic anemia, Neonatal hyperbilir... |
OMIM:618892 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Snakebite Envenomation |
|
Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Diarrhea, Erythema, Vomit... |
ORPHA:449285 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Dysphagia, Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to ... |
ORPHA:2590 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum |
OMIM:125230 |
Van Der Woude Syndrome |
|
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... |
ORPHA:888 |
Weaver-Williams Syndrome |
|
Narrow mouth, Cleft palate |
ORPHA:3448 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... |
OMIM:616860 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Diarrhea, Nausea, Dysphagia, Dyspnea, Poor appetite, Respiratory failure, Respiratory insufficien... |
ORPHA:352447 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
High palate, Enamel hypoplasia, Bilateral cleft lip and palate, Ankyloglossia, Thin upper lip ver... |
OMIM:618874 |
Malignant Peritoneal Mesothelioma |
|
Dyspnea, Ileus, Abdominal distention, Abdominal pain |
ORPHA:168811 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Stomatocytosis |
OMIM:268150 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Gastroesophageal reflux, Chronic pulmonary obstruction, Cyanosis, Cough, Pl... |
ORPHA:2414 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea |
OMIM:606824 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Wide mouth, Cleft palate, Excessive wrinkled skin, Eclabion,... |
OMIM:619950 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:228940 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Abnormality of the tongue muscle, Respiratory failure, Feeding difficu... |
ORPHA:370968 |
Orofaciodigital Syndrome I |
|
High palate, Cleft upper lip, Alveolar ridge overgrowth, Supernumerary tooth, Cleft palate, Agene... |
OMIM:311200 |
Secondary Short Bowel Syndrome |
|
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... |
ORPHA:95427 |
Respiratory Underresponsiveness To Hypoxia And Hypercapnia |
|
Respiratory insufficiency, Respiratory failure, Hypercapnia |
OMIM:267480 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Dysphagia, Retinal telangiectasia, Restrictive ventilatory defect, Tongue atrophy |
OMIM:158900 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Vomiting, Respiratory failure, Death in infancy |
OMIM:614299 |
Autosomal Recessive Robinow Syndrome |
|
Ectopic anus, Wide mouth, Gingival overgrowth, Supernumerary tooth, Hypodontia, Open bite, Abnorm... |
ORPHA:1507 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Hypoxemia, Cyanosis, Neonatal death, Tachypnea, Cough, Death in infa... |
OMIM:610921 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft upper lip, Cleft palate |
OMIM:179400 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Qazi-Markouizos Syndrome |
|
Abdominal distention, High, narrow palate, Open mouth, Hypoplasia of teeth, Broad philtrum, Chron... |
ORPHA:3010 |
Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Abdominal distention, Abdominal pain, Pleural effusion |
ORPHA:314473 |
Pneumocystosis |
|
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... |
ORPHA:723 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly |
OMIM:214900 |
Hyperekplexia 4 |
|
High palate, Respiratory failure |
OMIM:618011 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Abnormality of the dentition, Cleft palate |
ORPHA:3104 |
Gaucher Disease, Type Ii |
|
Apnea, Feeding difficulties, Recurrent aspiration pneumonia, Dysphagia, Protuberant abdomen |
OMIM:230900 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
High palate, Dental crowding, Narrow mouth, Narrow palate, Long philtrum, Open mouth, Thick vermi... |
OMIM:616078 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Dysphagia, Tongue atrophy |
ORPHA:496689 |
Thyroid Hypoplasia |
|
Constipation, Abdominal distention, Jaundice, Macroglossia |
ORPHA:95720 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Cyanosis, R... |
OMIM:610913 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Neonatal death, Dysphagia, Pulmonary arterial hyperte... |
OMIM:619751 |
Postsynaptic Congenital Myasthenic Syndromes |
|
High palate, Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertio... |
ORPHA:98913 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Feeding difficulties, Respiratory insufficiency, Death in childhood, Neonatal death, Death in inf... |
OMIM:245400 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Atrophic muscularis propria, Gastroesophageal reflux, Abdominal pain, Abdominal distention, Small... |
ORPHA:298 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Abdominal distention, Abdominal pain, Spontaneous esophageal perforation, Malnutrition, Gastropar... |
OMIM:277320 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Decreased DLCO, Cough, Pneumonia, Restrictive ventilatory defect, Hypoxemia, Dyspnea |
OMIM:610910 |
Hypoadrenocorticism, Familial |
|
Feeding difficulties in infancy, Apnea, Cyanosis, Vomiting |
OMIM:240200 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in childhood, Respiratory failure, Neonatal death, Death in infancy |
OMIM:619334 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Constipation, Abdominal distention, Abdominal pain, Respiratory insufficiency, Diarrhea, Episodic... |
ORPHA:100924 |
Hereditary Elliptocytosis |
|
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, ... |
ORPHA:288 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Gastroesophageal reflux, Central sleep apnea, Gastrostomy tube feeding ... |
ORPHA:70472 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Cleft palate, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictiv... |
ORPHA:2257 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Abdominal distention, Intestinal malrotation, Vomiting, Pyloric stenosis, Feeding difficulties in... |
OMIM:300048 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Schistocytosis, ... |
OMIM:224120 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Decreased hemoglobin concentration, Chronic hemolytic anemia, Unconjugated hyperbil... |
OMIM:266200 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Abdominal distention, Cleft palate |
OMIM:613885 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
High palate, Respiratory insufficiency, Respiratory failure, Feeding difficulties |
OMIM:615330 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abdominal pain, Respiratory insufficiency, Cough, Restrictive ventilatory defect, Abnormal patter... |
ORPHA:724 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Abdominal pain, Nonproductive cough, Diarrhea, Vomiting, Tachy... |
ORPHA:454836 |
Inflammatory Pseudotumor Of The Liver |
|
Nausea, Abdominal distention, Vomiting, Abdominal pain |
ORPHA:90003 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abdominal distention, Death in infancy, Protuberant abdomen |
OMIM:277300 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis, Hyperbilirubinemia |
ORPHA:713 |
Myasthenic Syndrome, Congenital, 10 |
|
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Tongue atrophy |
OMIM:254300 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Tachypnea, ... |
ORPHA:60032 |
Holzgreve Syndrome |
|
Cleft upper lip, Cleft palate |
OMIM:236110 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Dysphagia, Respiratory failure, Neonatal respiratory distress |
OMIM:616867 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate |
OMIM:258320 |
Congenital Myasthenic Syndrome |
|
High palate, Nasal regurgitation, Episodic respiratory distress, Gastroesophageal reflux, Respira... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
High palate, Nasal regurgitation, Episodic respiratory distress, Gastroesophageal reflux, Respira... |
ORPHA:98914 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Narrow mouth, High, narrow palate, Cleft palate, Pyloric stenosis, Ankyloglossia, Thin upper lip ... |
ORPHA:261330 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Abdominal distention, Diarrhea, Long philtrum, Neonatal death, Vomiting... |
OMIM:608104 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Gastroesophageal reflux, Feeding difficulties, Cyanosis, Rectal prolapse |
OMIM:619793 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Narrow mouth, Oral mucosal blisters, Gastroesophageal reflux, Generalized abnormality of skin, Fr... |
ORPHA:79408 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Vacuolated lymphocytes, Splenomegaly |
OMIM:269920 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... |
ORPHA:91547 |
Gracile Bone Dysplasia |
|
Ankyloglossia |
OMIM:602361 |
Vacterl Association With Hydrocephalus |
|
Anal atresia, Respiratory insufficiency, Stillbirth, Respiratory failure |
OMIM:276950 |
Acquired Methemoglobinemia |
|
Respiratory distress, Abdominal pain, Cyanosis, Vomiting, Hypoxemia, Dyspnea |
ORPHA:464453 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Aplasia/Hypoplasia of the tongue, Dyspnea, Abnormal lip morphology, Abnorma... |
ORPHA:2759 |
Bifid Uvula |
|
Cleft lip, Submucous cleft soft palate, Bifid uvula |
ORPHA:99771 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... |
OMIM:608647 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Wide mouth, High, narrow palate, Feeding difficulties, Thin vermilion borde... |
ORPHA:2707 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... |
ORPHA:247598 |
Neuromyelitis Optica Spectrum Disorder |
|
Nausea, Respiratory failure |
ORPHA:71211 |
Proximal Spinal Muscular Atrophy |
|
Constipation, Gastroesophageal reflux, Hypoventilation, Poor suck, Recurrent aspiration pneumonia... |
ORPHA:70 |
Letterer-Siwe Disease |
|
Dyspnea, Stomatitis, Abdominal distention, Jaundice |
OMIM:246400 |
Sepsis In Premature Infants |
|
Decreased liver function, Petechiae, Abdominal distention, Enterocolitis, Cyanosis, Abnormal resp... |
ORPHA:90051 |
Wolman Disease |
|
Abdominal distention, Hepatic failure, Steatorrhea, Esophageal varix, Malnutrition, Nausea and vo... |
ORPHA:75233 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, In... |
OMIM:267700 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
Visceral Myopathy 1 |
|
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Vomiting, Gastroparesis, Malnutriti... |
OMIM:155310 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Diarrhea, Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
Robinow Syndrome |
|
Dental malocclusion, Gingival overgrowth, Persistence of primary teeth, Triangular mouth, Tooth m... |
ORPHA:97360 |
Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia |
OMIM:210500 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly |
ORPHA:90037 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Hyperbilirubinemia |
OMIM:614300 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea |
ORPHA:71277 |
Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... |
ORPHA:2919 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Downturned corners of mouth, Ankyloglossia, Feeding difficulties, Cleft palate |
ORPHA:488642 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Anorexia, Respiratory failure, Death in infancy |
OMIM:619386 |
Rh Deficiency Syndrome |
|
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... |
ORPHA:71275 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... |
ORPHA:36238 |
Chiari Malformation Type Ii |
|
Dysphagia, Cyanosis, Feeding difficulties, Inspiratory stridor |
OMIM:207950 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory insufficiency, Respiratory failure |
OMIM:313420 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Feeding difficulties in infancy, Respiratory failure, Paroxysmal dyspnea, Stridor |
ORPHA:444013 |
Burning Mouth Syndrome |
|
Parageusia, Xerostomia, Smooth tongue, Abnormality of taste sensation, Tongue pain, Strawberry to... |
ORPHA:353253 |
Hereditary Methemoglobinemia |
|
Exertional dyspnea, Cyanosis, Lip discoloration |
ORPHA:621 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea, Abdominal distention |
ORPHA:79097 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Lip pit, Cleft palate, Non-midline cleft lip |
ORPHA:1072 |
Hutchinson-Gilford Progeria Syndrome |
|
High palate, Narrow mouth, Persistence of primary teeth, Hypodontia, Prominent superficial blood ... |
ORPHA:740 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
High palate, Prematurely aged appearance, Tooth malposition, Everted lower lip vermilion, Short p... |
ORPHA:1387 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Decreased DLCO, Tachypnea, Pleural effusion, ... |
ORPHA:79126 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Dysphagia, Respiratory failure |
OMIM:613954 |
Niemann-Pick Disease, Type C2 |
|
Prolonged neonatal jaundice, Jaundice, Respiratory insufficiency, Death in childhood, Death in in... |
OMIM:607625 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Accessory oral frenulum |
ORPHA:1373 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Glossoptosis, Respiratory insufficiency, Feeding difficulties, Cleft palate |
OMIM:618356 |
Auriculocondylar Syndrome 1 |
|
Dental malocclusion, Narrow mouth, Apnea, Cleft palate, Glossoptosis, Anterior open-bite malocclu... |
OMIM:602483 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl... |
ORPHA:64743 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High palate, Constipation, High, narrow palate, Abdominal pain, Feeding difficulties, Poor suck, ... |
OMIM:619475 |
Auriculocondylar Syndrome |
|
Respiratory distress, Dental malocclusion, Narrow mouth, Cleft palate, Feeding difficulties, Glos... |
ORPHA:137888 |
1Q21.1 Microdeletion Syndrome |
|
High palate, Ankyloglossia, Long philtrum |
ORPHA:250989 |
Catel-Manzke Syndrome |
|
Glossoptosis, Oral synechia, Cleft palate |
ORPHA:1388 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Tracheoesophageal fistula, Pneumonia, Feeding difficulties... |
ORPHA:95430 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Constipation, Abdominal pain |
ORPHA:168816 |
Anencephaly 2 |
|
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Cyanosis |
OMIM:610773 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Esophageal varix, Pulmonary arterial hypertension, Jau... |
OMIM:215600 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure, Central sleep apnea |
ORPHA:168486 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Liver Failure, Infantile, Transient |
|
Abdominal distention, Acute hepatic failure, Vomiting, Feeding difficulties in infancy, Death in ... |
OMIM:613070 |
Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Abdominal distention, Gastroesophageal reflux, Neonatal respiratory distress |
OMIM:256300 |
Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Achalasia, Acrocyanosis |
ORPHA:2400 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Abnormal large intestinal mucosa morphology, Abdominal distention, S... |
ORPHA:92050 |
Acute Lung Injury |
|
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:178320 |
Hypermanganesemia With Dystonia 1 |
|
Polycythemia, Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirub... |
OMIM:613280 |
Achondrogenesis, Type Ii |
|
Abdominal distention, Stillbirth, Cleft palate |
OMIM:200610 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thick upper lip vermilion, Narrow mouth, Constipation, Gastroesophageal reflux, Central sleep apn... |
OMIM:617360 |
Oculogastrointestinal Muscular Dystrophy |
|
Malabsorption, Abnormal gastric mucosa morphology, Abdominal distention, Spontaneous esophageal p... |
ORPHA:1876 |
Pontocerebellar Hypoplasia, Type 1B |
|
Respiratory insufficiency, Tongue fasciculations, Feeding difficulties, Tongue atrophy |
OMIM:614678 |
Lipoid Proteinosis |
|
High palate, Abnormal oral mucosa morphology, Tongue nodules, Dysphagia, Microglossia, Thick lowe... |
ORPHA:530 |
Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Hypon... |
ORPHA:1667 |
Al Amyloidosis |
|
Abdominal distention, Macroglossia, Bruising susceptibility, Nonproductive cough, Xerostomia, Abn... |
ORPHA:85443 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin |
OMIM:616299 |
Congenital Lethal Erythroderma |
|
Respiratory insufficiency, Malabsorption, Urticaria, Death in infancy |
ORPHA:1954 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Dysphagia, Apnea, Respiratory insufficiency, Feeding difficulties |
OMIM:618198 |
Encephalopathy, Ethylmalonic |
|
Petechiae, Feeding difficulties, Death in infancy, Chronic diarrhea, Acrocyanosis |
OMIM:602473 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory insufficiency, Dysphagia, Tongue atrophy, Nocturnal hypoventila... |
OMIM:211530 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Wide mouth, Asthma, Tube feeding, Short philtrum, Episodic vomiting, Widely spaced teeth, Ankylog... |
OMIM:619841 |
Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis, Gastroesophageal reflux |
ORPHA:1949 |
Mercury Poisoning |
|
Respiratory distress, Episodic abdominal pain, Anorexia, Interstitial pneumonitis, Episodic vomit... |
ORPHA:330021 |
Achondrogenesis Type 1A |
|
Abdominal distention, Long philtrum |
ORPHA:93299 |
Congenital Hypothyroidism |
|
Sinusitis, Constipation, Abdominal distention, Macroglossia, Tracheoesophageal fistula, Oral clef... |
ORPHA:442 |
Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia |
OMIM:616540 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:235555 |
Acrofacial Dysostosis, Weyers Type |
|
Hypodontia, Abnormality of the dentition, Advanced eruption of teeth, Conical tooth, Solitary med... |
ORPHA:952 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Flushing, Constipation, Abdominal distention, Anorexia, Diarrhea, Vo... |
ORPHA:2131 |
Lead Poisoning |
|
Abdominal cramps, Asthma, Miscarriage, Constipation, Abdominal distention, Abdominal pain, Anorex... |
ORPHA:330015 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... |
OMIM:618695 |
Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Cleft palate |
OMIM:600251 |
Pancreatoblastoma |
|
Abdominal distention, Abdominal pain, Diarrhea, Vomiting, Jaundice |
ORPHA:677 |
Alg1-Cdg |
|
Decreased liver function, Protein-losing enteropathy, Respiratory failure, Chronic diarrhea |
ORPHA:79327 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Protruding tongue, Smooth philtrum, Open mouth |
OMIM:618732 |
Orofaciodigital Syndrome Xviii |
|
Short philtrum, Cleft lip, Diastema, Accessory oral frenulum |
OMIM:617927 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Dysphagia, Tongue atrophy |
ORPHA:216873 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Decreased DLCO, Cough, Restrictive ventilatory defect, Hypoxemia, Dyspnea |
ORPHA:747 |
Hereditary Spherocytosis |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, Spontaneou... |
ORPHA:822 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentrati... |
ORPHA:79303 |
Acrocephalopolydactyly |
|
Protuberant abdomen |
ORPHA:221054 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal blood gas level, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:70578 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, He... |
OMIM:603553 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Tube feeding, Feeding difficulties, Death in childhood, Dysphagia, Respiratory failure |
OMIM:619847 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis |
OMIM:250800 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Feeding difficulties in infancy, Respiratory failure, Death in infancy |
OMIM:614862 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Constipation, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean, Respi... |
OMIM:604320 |
Amyotrophic Lateral Sclerosis |
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Xerostomia, Abnormal respiratory system physiology, Dyspnea, Nausea and vomiting, Respiratory fai... |
ORPHA:803 |
Bile Acid Conjugation Defect 1 |
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Conjugated hyperbilirubinemia |
OMIM:619232 |
Primary Hepatic Neuroendocrine Carcinoma |
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Episodic abdominal pain, Abdominal distention, Anorexia, Diarrhea, Bronchospasm, Nausea, Facial t... |
ORPHA:100085 |
Hemifacial Atrophy, Progressive |
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Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami |
OMIM:141300 |
Dysostosis Multiplex, Ain-Naz Type |
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Abdominal distention |
OMIM:619345 |
Pseudomyxoma Peritonei |
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Constipation, Abdominal pain, Respiratory insufficiency, Inflammation of the large intestine, Int... |
ORPHA:26790 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Diarrhea, Vomiting, Tachypnea, Nausea, Pleural effusion, Hypoxemia, Poor appetite, Respiratory fa... |
ORPHA:542323 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Respiratory distress, Macroglossia, Respiratory insufficiency, Respiratory failure requiring assi... |
ORPHA:308552 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
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Cleft lip, Cleft palate |
OMIM:612370 |
Colonic Atresia |
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Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Mixed-Type Autoimmune Hemolytic Anemia |
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Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
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Respiratory distress, Widely spaced teeth, Protuberant abdomen, Carious teeth |
OMIM:617102 |
Esophageal Atresia |
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Respiratory distress, Oral aversion, Cleft palate, Tracheoesophageal fistula, Vomiting, Pyloric s... |
ORPHA:1199 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
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Cleft palate, Feeding difficulties, Intestinal malrotation, Long philtrum, Bifid uvula, Downturne... |
ORPHA:404440 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
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Glossoptosis, Long philtrum, Cleft palate |
ORPHA:166100 |
Criss-Cross Heart |
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Respiratory insufficiency, Feeding difficulties, Cyanosis |
ORPHA:1461 |
Glucose-Galactose Malabsorption |
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Abdominal distention, Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds |
ORPHA:35710 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
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Wide mouth, Short philtrum, Respiratory failure, Death in infancy |
ORPHA:1194 |
Congenital Muscular Dystrophy, Ullrich Type |
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Abnormal palate morphology, Respiratory failure |
ORPHA:75840 |
Acute Intermittent Porphyria |
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Ileus, Pseudobulbar paralysis, Constipation, Abdominal pain, Respiratory paralysis, Weakness of m... |
ORPHA:79276 |
Orofaciodigital Syndrome Vi |
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High palate, Cleft upper lip, Accessory oral frenulum, Cleft palate, Tongue nodules |
OMIM:277170 |
Congenital Bile Acid Synthesis Defect Type 3 |
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Hepatosplenomegaly, Hyperbilirubinemia |
ORPHA:79302 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Microcolon, Abdominal distention, Neonatal death |
OMIM:619362 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Abdominal distention |
ORPHA:369 |
Congenital Fibrinogen Deficiency |
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Subcutaneous hemorrhage, Bruising susceptibility, Abdominal pain, Cyanosis, Gingival bleeding, Vo... |
ORPHA:335 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
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Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Thrombocytopenia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly |
OMIM:251880 |
Boutonneuse Fever |
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Petechiae, Abdominal pain, Diarrhea, Nausea, Respiratory failure |
ORPHA:83313 |
Motor Neuropathy, Peripheral, With Dysautonomia |
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Achalasia, Cyanosis |
OMIM:252320 |
Thyroid Ectopia |
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Constipation, Abdominal distention, Jaundice, Macroglossia |
ORPHA:95712 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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High palate, Alveolar ridge overgrowth, Abdominal distention, Cleft palate, Hepatic failure, Prot... |
OMIM:235255 |
Hyperimmunoglobulinemia D With Periodic Fever |
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Urticaria, Abdominal pain, Diarrhea, Erythema, Intestinal obstruction, Purpura, Recurrent aphthou... |
ORPHA:343 |
Sialuria |
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High palate, Sleep apnea, Long philtrum, Thin upper lip vermilion, Protuberant abdomen, Smooth ph... |
OMIM:269921 |
Deafness-Craniofacial Syndrome |
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Abnormality of the dentition, Short philtrum, Bifid tongue, Short lingual frenulum, Abnormal pala... |
ORPHA:3241 |
Pitt-Hopkins-Like Syndrome 2 |
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Wide mouth, Gastroesophageal reflux, Constipation, Feeding difficulties, Hyperventilation, Protru... |
OMIM:614325 |
Microphthalmia, Syndromic 11 |
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Cleft upper lip, Cleft palate |
OMIM:614402 |
Spinocerebellar Ataxia Type 1 |
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Dysphagia, Respiratory failure |
ORPHA:98755 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Hypocholesterolemia, Hyperbilirubinemia, Splenomegaly |
OMIM:607765 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Gastroesophageal reflux, Supernumerary tooth, Vomiting, Prolonged neonatal jaundice, Ankyloglossia |
OMIM:619525 |
Pulmonary Arteriovenous Malformation |
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Hemothorax, Pleural empyema, Cyanosis, Cough, Gastrointestinal infarctions, Hypoxemia, Dyspnea, T... |
ORPHA:2038 |
Gonadoblastoma |
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Abdominal distention, Abdominal pain |
ORPHA:206484 |
Anterior Cutaneous Nerve Entrapment Syndrome |
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Recurrent infection of the gastrointestinal tract, Abdominal distention, Abdominal pain, Anorexia... |
ORPHA:51890 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
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Respiratory insufficiency, Respiratory failure |
OMIM:273730 |
Idiopathic Congenital Hypothyroidism |
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Neonatal hyperbilirubinemia |
ORPHA:95717 |
Lymphatic Malformation 7 |
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Respiratory distress, Abdominal distention |
OMIM:617300 |
Ovarian Fibrothecoma |
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Abdominal distention, Abdominal pain, Pleural effusion |
ORPHA:314478 |
Microvillus Inclusion Disease |
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Villous atrophy, Diarrhea, Abdominal distention, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Combined Oxidative Phosphorylation Deficiency 53 |
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Death in childhood, Abdominal distention, Death in infancy |
OMIM:619423 |
Scedosporiosis |
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Sinusitis, Abnormal jejunum morphology, Pleural empyema, Cough, Pneumonia, Abnormal respiratory s... |
ORPHA:449280 |
Whistling Face Syndrome, Recessive Form |
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High palate, Narrow mouth, Long philtrum, Whistling appearance, Microglossia |
OMIM:277720 |
Leigh Syndrome |
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Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure |
OMIM:256000 |
Terminal Osseous Dysplasia |
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Abnormal oral frenulum morphology, Cleft palate |
OMIM:300244 |
Double Outlet Right Ventricle |
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Narrow mouth, Cleft palate, Feeding difficulties, Intestinal malrotation, Cyanosis, Tachypnea, Su... |
ORPHA:3426 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Thin vermilion border, Abdominal distention |
OMIM:602557 |
Autosomal Dominant Spastic Paraplegia Type 29 |
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Hyperbilirubinemia |
ORPHA:101009 |
Meckel Syndrome 14 |
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Abdominal distention, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Protuberant abdomen |
OMIM:619879 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Gastroesophageal reflux, Macroglossia, Hypoventilation, Respiratory insufficiency, Protruding ton... |
ORPHA:258 |
Botulism |
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Constipation, Abdominal pain, Respiratory insufficiency, Xerostomia, Diarrhea, Dysphagia, Nausea ... |
ORPHA:1267 |
Desmoplastic Small Round Cell Tumor |
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Ileus, Nausea and vomiting, Abdominal distention, Abdominal pain |
ORPHA:83469 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Decreased liver function, Feeding difficulties, Vomiting, Cardiorespiratory arrest, Restrictive v... |
ORPHA:26791 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
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Anal atresia, Abdominal distention, Intestinal malrotation, Rectovaginal fistula, Secretory diarrhea |
OMIM:270420 |
Eosinophilic Granulomatosis With Polyangiitis |
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Asthma, Malabsorption, Sinusitis, Urticaria, Gastroesophageal reflux, Abdominal pain, Cutis marmo... |
ORPHA:183 |
Cronkhite-Canada Syndrome |
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Malabsorption, Abdominal pain, Stomach cancer, Anorexia, Diarrhea, Furrowed tongue, Intestinal po... |
ORPHA:2930 |
Hereditary Fructose Intolerance |
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Constipation, Abdominal distention, Abdominal pain, Diarrhea, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
Fibrodysplasia Ossificans Progressiva |
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Widely spaced teeth, Respiratory insufficiency, Respiratory failure |
OMIM:135100 |
Mirizzi Syndrome |
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Abdominal distention, Abdominal pain, Anorexia, Vomiting, Nausea, Abdominal colic, Jaundice |
ORPHA:521219 |
Glycogen Storage Disease Xii |
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Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Elevated circulating creatine ... |
OMIM:611881 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
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Bifid uvula, Cleft palate, Submucous cleft hard palate |
ORPHA:2521 |
Chylomicron Retention Disease |
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Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Fat malabsorption |
ORPHA:71 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
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High palate, Respiratory distress, Decreased liver function, Death in childhood, Exertional dyspn... |
OMIM:220110 |
Acquired Hypertrichosis Lanuginosa |
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Glossitis, Poor appetite, Chronic diarrhea, Macroglossia |
ORPHA:2221 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
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Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:601847 |
Pediatric Systemic Lupus Erythematosus |
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Abdominal distention, Abdominal pain, Diarrhea, Vomiting, Pleural effusion, Oral ulcer, Dyspnea |
ORPHA:93552 |
Osteopetrosis, Autosomal Recessive 5 |
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Hypocalcemia, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepat... |
OMIM:259720 |
Malignant Atrophic Papulosis |
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Telangiectasia of the skin, Abdominal pain, Nausea and vomiting, Gastrointestinal infarctions, In... |
ORPHA:679 |
Tricuspid Atresia |
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Cyanosis |
ORPHA:1209 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Hyperbilirubinemia |
OMIM:214950 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
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High palate, Feeding difficulties, Tented upper lip vermilion, Pneumonia, Abnormal respiratory sy... |
ORPHA:98905 |
Castleman Disease |
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Abdominal distention, Abdominal pain, Cough, Intestinal obstruction, Dyspnea, Nausea and vomiting... |
ORPHA:160 |
Pulmonary Capillary Hemangiomatosis |
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Hypoxemia, Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Decreased DLCO, Pleural effu... |
ORPHA:199241 |
Triosephosphate Isomerase Deficiency |
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Respiratory distress, Jaundice, Respiratory insufficiency, Death in adolescence, Death in infancy... |
OMIM:615512 |
Faciocardiomelic Dysplasia, Lethal |
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Microglossia, Narrow mouth, Neonatal death |
OMIM:227270 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
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Respiratory insufficiency, Neonatal death |
OMIM:601612 |
X-Linked Acrogigantism |
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Sleep apnea, Abdominal distention, Diastema, Polyphagia, Snoring |
ORPHA:300373 |
Afibrinogenemia, Congenital |
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Hematemesis, Bruising susceptibility, Death in childhood, Death in adolescence, Neonatal death, G... |
OMIM:202400 |
Buerger Disease |
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Acrocyanosis |
ORPHA:36258 |
Bnar Syndrome |
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Short lingual frenulum, Anal stenosis, Anteriorly placed anus |
ORPHA:217266 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
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Nocturnal hypoventilation, Respiratory failure, Reduced vital capacity |
OMIM:603689 |
Fanconi-Bickel Syndrome |
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Reduced subcutaneous adipose tissue, Malabsorption, Poor appetite, Abdominal distention |
OMIM:227810 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Reduced subcutaneous adipose tissue, Respiratory failure |
ORPHA:363400 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
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Wide mouth, Asthma, Intestinal polyp, Long philtrum, Open mouth, Protuberant abdomen, Lactose int... |
ORPHA:457485 |
Necrotizing Enterocolitis |
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Apnea, Bloody diarrhea, Abdominal distention, Diarrhea, Vomiting |
ORPHA:391673 |
Orofaciodigital Syndrome Ix |
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High palate, Accessory oral frenulum, Cleft palate, Abnormality of the dentition, Recurrent aspir... |
OMIM:258865 |
Niemann-Pick Disease, Type A |
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Constipation, Vomiting, Feeding difficulties in infancy, Prolonged neonatal jaundice, Protuberant... |
OMIM:257200 |
Congenital Fiber-Type Disproportion Myopathy |
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High palate, Dental crowding, Hypoxemia, Feeding difficulties, Weakness of muscles of respiration... |
ORPHA:2020 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:211600 |
Pai Syndrome |
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Abnormal oral frenulum morphology, Median cleft lip, Bifid uvula, Cleft palate |
ORPHA:1993 |
Larsen-Like Syndrome, Lethal Type |
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Respiratory insufficiency, Neonatal death, Tracheomalacia |
OMIM:245650 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Abdominal distention, Intestinal malrotation, Hypoperistalsis, Death in infancy, Microcolon, Naus... |
ORPHA:2241 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
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Furrowed tongue |
ORPHA:2743 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure, Feeding difficul... |
OMIM:613845 |
Idiopathic Hypereosinophilic Syndrome |
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Respiratory distress, Asthma, Malabsorption, Colitis, Urticaria, Abdominal distention, Vasculitis... |
ORPHA:3260 |
Immunodeficiency 54 |
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Respiratory insufficiency, Respiratory failure |
OMIM:609981 |
Combined Oxidative Phosphorylation Deficiency 4 |
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Respiratory failure, Death in infancy |
OMIM:610678 |
Deafness-Lymphedema-Leukemia Syndrome |
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Nausea and vomiting, Respiratory failure, Bruising susceptibility |
ORPHA:3226 |
Neuroocular Syndrome |
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Short uvula, Torus palatinus, Downturned corners of mouth, Widely spaced teeth, Increased overbit... |
OMIM:619539 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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High palate, Apnea, Narrow palate, Respiratory insufficiency, Diarrhea, Vomiting, Feeding difficu... |
OMIM:608836 |
Fumarase Deficiency |
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Polycythemia, Hyperbilirubinemia |
OMIM:606812 |
Gallbladder Neuroendocrine Tumor |
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Abdominal distention, Episodic abdominal pain, Anorexia, Nausea, Intermittent jaundice |
ORPHA:100086 |
Idiopathic Pulmonary Hemosiderosis |
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Crackles, Cough, Restrictive ventilatory defect, Dyspnea, Respiratory failure |
ORPHA:99931 |
Hsd10 Disease, Infantile Type |
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Dysphagia, Cyanosis, Gastrointestinal dysmotility |
ORPHA:391428 |
Peripartum Cardiomyopathy |
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Asthma, Abdominal pain, Paroxysmal dyspnea, Crackles, Orthopnea, Dyspnea, Exertional dyspnea, Pul... |
ORPHA:563 |
Cystic Echinococcosis |
|
Hyperbilirubinemia, Eosinophilia, Abscess, Peritoneal abscess, Splenic cyst |
ORPHA:400 |
Acute Bilirubin Encephalopathy |
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Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
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Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
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Stridor, Intercostal muscle weakness, Respiratory failure, Obstructive sleep apnea |
OMIM:606071 |
Donohue Syndrome |
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Wide mouth, Gingival overgrowth, Abdominal distention, Thick lower lip vermilion |
OMIM:246200 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Feeding difficulties, Respiratory failure requiring assisted ventilation, Widely spaced teeth, Re... |
ORPHA:496641 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
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Narrow palate, Tented upper lip vermilion, Respiratory failure |