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 |
|
Neonatal respiratory distress, Feeding difficulties in infancy, Pierre-Robin sequence, Upper airw... |
OMIM:261800 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia |
OMIM:614164 |
Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting |
ORPHA:313906 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Perching Syndrome |
|
Respiratory distress, Cyanosis, Feeding difficulties, High palate, Dysphagia |
OMIM:617055 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Neonatal respiratory distress, Upper airway obstruction, Cleft palate |
ORPHA:718 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia |
OMIM:179700 |
Trehalase Deficiency |
|
Malabsorption, Abdominal pain, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations, Respiratory failure, Dysphagia |
OMIM:613435 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... |
OMIM:237800 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Nasogastric tube feeding in infancy, Dyspnea, Upper airway obstruction, Cle... |
ORPHA:141152 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Feeding difficulties, Respiratory failure, Tongue fasciculations, Deat... |
OMIM:616081 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Apnea, Intercostal retractions, Wheezing, Feeding difficulties, S... |
ORPHA:137935 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow ... |
ORPHA:2004 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure, Gastrostomy tube feeding in infancy, Dysphagia |
OMIM:615348 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory insufficiency, Feeding difficulties, Respiratory fai... |
OMIM:611722 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Abdominal ... |
ORPHA:103907 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Respiratory insufficiency |
OMIM:611369 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Neuralgic Amyotrophy |
|
Cleft palate, Acrocyanosis, Respiratory insufficiency, Narrow mouth |
ORPHA:2901 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hyperbiliru... |
OMIM:620010 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Nasogastric tube feeding in infancy, Dyspnea,... |
ORPHA:90117 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation, Painful subcutaneous lipomas |
OMIM:103200 |
Primary Effusion Lymphoma |
|
Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain |
ORPHA:48686 |
Malaria |
|
Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia |
ORPHA:673 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Cleft palate, Respiratory insufficiency, Restrictive ventilatory defect, Re... |
OMIM:614399 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal... |
OMIM:174300 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea, Feeding difficulties |
OMIM:610992 |
Solar Urticaria |
|
Dyspnea, Angioedema, Wheezing, Abnormal tongue morphology, Urticaria, Dermatographic urticaria, A... |
ORPHA:97230 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure, Dysphagia, Feeding difficulties |
OMIM:225753 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Thyroid Hemiagenesis |
|
Macroglossia, Abdominal distention, Jaundice, Constipation |
ORPHA:95719 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Feeding difficulties in infancy, Death in infancy, Jaundice, Glossoptosis |
OMIM:614876 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Gastrointestinal dysmotility, Respiratory failure, Dysphagia |
OMIM:618637 |
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 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Tongue, Pigmented Fungiform Papillae Of |
|
Abnormality of the tongue |
OMIM:275250 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Dependency on parenteral nutrition... |
OMIM:619445 |
High Altitude Pulmonary Edema |
|
Nausea and vomiting, Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Nonproductive cough, ... |
ORPHA:1302 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Dysphagia |
OMIM:150260 |
Congenital Myopathy 14 |
|
Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Feeding difficulties, ... |
OMIM:618414 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
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 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Hartnup Disorder |
|
Hyperactivity, Cutaneous photosensitivity, Glossitis, Attention deficit hyperactivity disorder |
OMIM:234500 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Apnea, Central hypoventilation, Feeding difficulties, Chronic constipation, Respiratory failure, ... |
OMIM:619483 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Malnutrition, Dysphagia, ... |
ORPHA:89842 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough |
OMIM:263000 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ... |
OMIM:620265 |
Athyreosis |
|
Macroglossia, Abdominal distention, Constipation, Feeding difficulties |
ORPHA:95713 |
Kinsship Syndrome |
|
Thin upper lip vermilion, Death in infancy, Abnormal repetitive mannerisms, Thick lower lip vermi... |
OMIM:619297 |
Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Hyperactivity, Dental crowding, Aggressive behavior, Narrow palate, Sel... |
OMIM:616078 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Choanal Atresia |
|
Respiratory distress, Cyanosis, Upper airway obstruction, Feeding difficulties, Choking episodes,... |
ORPHA:137914 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Chronic constipation, Ankyloglossia |
OMIM:619352 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:616649 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, M... |
ORPHA:1832 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Abdominal distention |
OMIM:174050 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea, Dental crowding, Narrow mouth, Microglossia, Dental malocclusion, Cl... |
OMIM:614669 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abdominal pain, Abdominal distention, Diarrhea, Abnormal fear-induced behavior, Res... |
ORPHA:100924 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C... |
ORPHA:160148 |
Hepatic Veno-Occlusive Disease |
|
Jaundice, Respiratory failure, Abdominal pain |
ORPHA:890 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:182900 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... |
OMIM:265120 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Poor appetite, Abdominal pain |
OMIM:616794 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti... |
OMIM:613662 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory insufficiency due to muscle weakness, Feeding difficulties, Respiratory failure, High... |
OMIM:611890 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency due to muscle we... |
ORPHA:254875 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain |
ORPHA:168829 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Apnea, Feeding difficulties, Respiratory failure, Poor suck |
OMIM:616277 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Widely spaced te... |
OMIM:619950 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure, Tongue fasciculations |
OMIM:600561 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... |
OMIM:235700 |
Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate |
OMIM:618021 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Macroglossia, Consti... |
ORPHA:226313 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Polyphagia, Oligodontia, Widely spaced teeth, Gastroesophageal reflux, Compu... |
OMIM:615873 |
Achondrogenesis, Type Ib |
|
Abdominal distention, Stillbirth, Respiratory insufficiency |
OMIM:600972 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure, Nasogastric tube feeding |
OMIM:619057 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Poor appetite, Abdominal pain, Geophagia, Intra-oral hyperpigmentation, Narrow mo... |
ORPHA:54028 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... |
OMIM:616278 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Feeding difficulties in infancy, Malnutrition, Upper airway obstruction, Hi... |
OMIM:612776 |
Snakebite Envenomation |
|
Epistaxis, Angioedema, Erythema, Neuromuscular dysphagia, Diarrhea, Pseudobulbar paralysis, Respi... |
ORPHA:449285 |
Opitz Gbbb Syndrome |
|
Natal tooth, Feeding difficulties in infancy, Cleft lip, Tracheoesophageal fistula, Cleft palate,... |
ORPHA:2745 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Premature loss of primary teeth, Abnormality of the dentition, Open b... |
ORPHA:2907 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... |
ORPHA:2302 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Bowel incontinence, High, narrow palate, Pyloric stenosis, Cleft palate... |
ORPHA:261330 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... |
OMIM:616860 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Intermediate Nemaline Myopathy |
|
High, narrow palate, Respiratory failure, Dysphagia, Long philtrum |
ORPHA:171433 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption |
OMIM:606824 |
2Q24 Microdeletion Syndrome |
|
Central apnea, Abnormal oral frenulum morphology, Short philtrum, Cleft palate |
ORPHA:1617 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Malignant Peritoneal Mesothelioma |
|
Dyspnea, Abdominal distention, Ileus, Abdominal pain |
ORPHA:168811 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Enamel hypoplasia, Ankylog... |
OMIM:618874 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Gastroesophageal reflux, Cough, Pu... |
ORPHA:2414 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne... |
OMIM:618892 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Abnormality of the tongue muscle, Respiratory failure, Respiratory insufficiency, Feeding difficu... |
ORPHA:370968 |
Gracile Bone Dysplasia |
|
Death in infancy, Ankyloglossia |
OMIM:602361 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Qazi-Markouizos Syndrome |
|
Abdominal distention, High, narrow palate, Hypoplasia of teeth, Chronic constipation, Open mouth,... |
ORPHA:3010 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentiti... |
ORPHA:1507 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Restrictive ventilatory defect, Tongue atrophy, Dysphagia, Retinal telangiectasia |
OMIM:158900 |
Orofaciodigital Syndrome I |
|
Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary tooth, Alveo... |
OMIM:311200 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Ovarian Fibroma |
|
Abdominal distention, Pleural effusion, Odontogenic keratocysts of the jaw, Abdominal pain |
ORPHA:314473 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Apnea, Central hypoventilation, Feeding difficulties, Respiratory failure, Dysphagia |
OMIM:618233 |
Hypoadrenocorticism, Familial |
|
Feeding difficulties in infancy, Cyanosis, Vomiting, Apnea |
OMIM:240200 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Short philtrum, High palate, Vomiting, Tics, Compulsive behaviors, Abnormal ... |
OMIM:619475 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... |
OMIM:610921 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Poor appetite, Respiratory insufficiency due to muscle weakness, Dyspnea, Diarrhea, Respiratory f... |
ORPHA:352447 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Thyroid Hypoplasia |
|
Macroglossia, Abdominal distention, Jaundice, Constipation |
ORPHA:95720 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... |
OMIM:610910 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest, Feeding difficulties |
OMIM:620203 |
Hyperekplexia 4 |
|
Respiratory failure, High palate |
OMIM:618011 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Small intestinal dysmotility, Poor appetite, Abdominal pain, Atrophic muscularis propria, Abdomin... |
ORPHA:298 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... |
ORPHA:36238 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... |
ORPHA:178320 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Abdominal... |
OMIM:300048 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... |
OMIM:619751 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure, Anorexia |
OMIM:619386 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia |
OMIM:214900 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Feeding difficulties,... |
OMIM:245400 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... |
OMIM:610913 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasculitis in the ... |
OMIM:620296 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Respiratory failure, Death in childhood |
OMIM:619334 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:236110 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties... |
OMIM:620278 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure, Feeding difficulties |
OMIM:618240 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure, Dysphagia |
OMIM:616867 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Cleft palate, Hy... |
ORPHA:2257 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Feeding difficulties, Macroglossia, Respiratory failure, Restrictive ventilatory defect, Dysphagia |
OMIM:606612 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Impulsivity, Compulsive behaviors, Dysphagia, Violent behavior |
ORPHA:216873 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Productive cough, Nonproductive cou... |
ORPHA:454836 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abdominal distention, Protuberant abdomen, Death in infancy |
OMIM:277300 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis |
ORPHA:713 |
1Q21.1 Microdeletion Syndrome |
|
Ankyloglossia, High palate, Attention deficit hyperactivity disorder, Long philtrum |
ORPHA:250989 |
Myasthenic Syndrome, Congenital, 10 |
|
Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Tongue atrophy |
OMIM:254300 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Crackles, Abdominal distention, Dyspnea, Chronic diarrhea, Asthma, Bron... |
OMIM:620233 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Gingival overgrowth, Respiratory insufficiency, Narrow palate, Respiratory failure, High palate, ... |
OMIM:618186 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Abdominal distention, Diarrhea, Vomiting, Decreased liver function, Protein-los... |
OMIM:608104 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Neonatal respiratory distress, Aggressive behavior, Respiratory insufficiency, Congenital larynge... |
OMIM:618356 |
Acquired Methemoglobinemia |
|
Respiratory distress, Cyanosis, Abdominal pain, Dyspnea, Hypoxemia, Vomiting |
ORPHA:464453 |
Amyotrophic Lateral Sclerosis |
|
Nausea and vomiting, Dyspnea, Xerostomia, Abnormal respiratory system physiology, Respiratory fai... |
ORPHA:803 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate |
OMIM:258320 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Respiratory failure, Interstiti... |
ORPHA:330021 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes |
OMIM:269920 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Malnutrition, Fragile... |
ORPHA:79408 |
Pontocerebellar Hypoplasia Type 1 |
|
Congenital laryngeal stridor, Respiratory failure, Tongue fasciculations, Feeding difficulties |
ORPHA:2254 |
Vacterl Association With Hydrocephalus |
|
Anal atresia, Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:276950 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis, Rectal prolapse, Feeding difficulties, Gastroesophageal reflux |
OMIM:619793 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... |
ORPHA:91547 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Gastroesophageal reflux, Decreased liver function, Dysphagia, Gastrostomy tu... |
ORPHA:70472 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... |
OMIM:607625 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Epistaxis, Aggressive behavior, Impulsivity, Asthma, Thi... |
ORPHA:293939 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Abdominal distention, Jaundice, Gastrointestinal dysmot... |
ORPHA:90051 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy, Dysphagia |
ORPHA:496689 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
Letterer-Siwe Disease |
|
Dyspnea, Abdominal distention, Jaundice, Stomatitis |
OMIM:246400 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... |
OMIM:232800 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract... |
ORPHA:51890 |
Wolman Disease |
|
Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f... |
ORPHA:75233 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Dyspnea, Res... |
ORPHA:2759 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, High, narrow palate, Feeding difficulties, Wide mouth, Abnormal up... |
ORPHA:2707 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Feeding difficulties, Respiratory failure, Stillbirth, Decreased liver function... |
OMIM:614922 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:3363 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Nausea |
ORPHA:71211 |
Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Chiari Malformation Type Ii |
|
Cyanosis, Feeding difficulties, Inspiratory stridor, Dysphagia |
OMIM:207950 |
Robinow Syndrome |
|
Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival overgrowth, Orofacia... |
ORPHA:97360 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Deep philtrum, Cleft palate, Feeding difficulti... |
ORPHA:404440 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, High palate, Respiratory insufficiency, Feeding difficulties |
OMIM:615330 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:98914 |
Lead Poisoning |
|
Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Asthma, A... |
ORPHA:330015 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Gastroparesis, Respiratory insufficiency due to m... |
ORPHA:70 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Epistaxis, Aggressive behavior, Asthma, Agenesis of incisor, Episodic v... |
OMIM:619841 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Abdominal pain, Feeding difficulties, Respiratory failure, Dysphagia |
OMIM:620166 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Feeding difficulties in infancy, Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Abdominal distention, Apnea |
ORPHA:79097 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin |
OMIM:616299 |
Hereditary Methemoglobinemia |
|
Lip discoloration, Cyanosis, Exertional dyspnea |
ORPHA:621 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Downturned corners of mouth, Ankyloglossia, Cleft palate, Feeding difficulties |
ORPHA:488642 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90037 |
Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip |
OMIM:600251 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure, Dysphagia |
OMIM:613954 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Exaggerated cupid's bow, Apnea, Anorexia, Oral-pharyngeal dysphagia, Aggres... |
ORPHA:2131 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Accessory oral frenulum |
ORPHA:1373 |
Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... |
ORPHA:79126 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Prematurely aged appearance, Feeding difficulties in infancy, Furrowed tongue, High palate, Short... |
ORPHA:1387 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Constipation, Abdominal pain |
ORPHA:168816 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention... |
OMIM:619580 |
Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Prominent superficial blood vessels, Cyanosis, Short lingual frenulum,... |
ORPHA:740 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention... |
ORPHA:92050 |
Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Recurrent pneumonia, Cleft palate, Respiratory failure, High palat... |
OMIM:620249 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, J... |
OMIM:613070 |
Meckel Syndrome, Type 8 |
|
Abdominal distention, Cleft palate, Cleft upper lip |
OMIM:613885 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thin upper lip vermilion, Natal tooth, Carious teeth, Downturned corners of mouth, Gastroesophage... |
OMIM:620186 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, Narrow palate, Feeding di... |
ORPHA:313892 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Catel-Manzke Syndrome |
|
Glossoptosis, Oral synechia, Cleft palate |
ORPHA:1388 |
Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto... |
ORPHA:64743 |
Anencephaly 2 |
|
Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Feeding difficulties, Downturned corners of mouth, Lobulated tongue, Sh... |
OMIM:613443 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Achalasia, Acrocyanosis |
ORPHA:2400 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Chronic diarrhea, Feeding difficulties, Acrocyanosis, Petechiae |
OMIM:602473 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure... |
OMIM:614299 |
Nephrotic Syndrome, Type 1 |
|
Abdominal distention, Neonatal respiratory distress, Gastroesophageal reflux, Pyloric stenosis |
OMIM:256300 |
Cirrhosis, Familial |
|
Abdominal distention, Jaundice, Fulminant hepatitis, Esophageal varix, Pulmonary arterial hyperte... |
OMIM:215600 |
Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... |
ORPHA:530 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Gastroesophageal reflux, Apnea |
ORPHA:1949 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... |
ORPHA:1667 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Gastroesophageal reflux, Cough, Emphysema, Neonatal respir... |
ORPHA:95430 |
Oculogastrointestinal Muscular Dystrophy |
|
Spontaneous esophageal perforation, Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, ... |
ORPHA:1876 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Dyspnea, Episodic abdominal pain, Intermittent jaundice... |
ORPHA:100085 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Feeding difficulties, Respiratory failure, Neonatal ... |
OMIM:605711 |
Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Tongue fasciculations, Respiratory insufficiency, Feeding difficulties |
OMIM:614678 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Death in infancy, Hypoventilation, Abdominal distention, Feeding difficulties, Gastroesophageal r... |
OMIM:620275 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion |
OMIM:616898 |
Mirizzi Syndrome |
|
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Nausea |
ORPHA:521219 |
Alg1-Cdg |
|
Respiratory failure, Chronic diarrhea, Protein-losing enteropathy, Decreased liver function |
ORPHA:79327 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... |
OMIM:613280 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Achondrogenesis Type 1A |
|
Abdominal distention, Long philtrum |
ORPHA:93299 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:235555 |
Angelman Syndrome Due To A Point Mutation |
|
Protruding tongue, Abnormal eating behavior, Tongue thrusting, Feeding difficulties, Wide mouth, ... |
ORPHA:411511 |
Auriculocondylar Syndrome 1 |
|
Apnea, Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterio... |
OMIM:602483 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Dyspnea... |
OMIM:211530 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Nonproductive cough, Dyspnea, X... |
ORPHA:85443 |
Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Vomiting |
ORPHA:677 |
Acrocephalopolydactyly |
|
Protuberant abdomen |
ORPHA:221054 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... |
ORPHA:952 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... |
OMIM:603553 |
Auriculocondylar Syndrome |
|
Respiratory distress, Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental ma... |
ORPHA:137888 |
Gaucher Disease, Type Ii |
|
Death in infancy, Apnea, Cough, Feeding difficulties, Stridor, Gastroesophageal reflux, Protubera... |
OMIM:230900 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Restlessness, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Respira... |
ORPHA:79276 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Feeding d... |
OMIM:618426 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Long philtrum, Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level |
ORPHA:70578 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
Orofaciodigital Syndrome Xviii |
|
Diastema, Cleft lip, Short philtrum, Accessory oral frenulum |
OMIM:617927 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Jaundice, Feeding difficulties, Hypopnea, Respiratory failure, Dysphagia... |
OMIM:617248 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Respiratory failure, Hyperactivity |
ORPHA:363400 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Abnormal serum b... |
ORPHA:79303 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin upper lip vermilion, Short lingual frenulum, Episodic vomiting, Pica, Feeding difficulties, ... |
OMIM:617360 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Hyperactivity, Asthma, Wide mouth, Protuberant abdomen, Long philtrum, Open ... |
ORPHA:457485 |
Hijazi-Reis Syndrome |
|
Hyperbilirubinemia |
OMIM:301094 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention |
OMIM:619345 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO |
ORPHA:747 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
Esophageal Atresia |
|
Respiratory distress, Feeding difficulties in infancy, Gastrointestinal dysmotility, Vomiting, Ga... |
ORPHA:1199 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Abdominal distention, Episodic abdominal pain, Intermittent jaundice, Nausea |
ORPHA:100086 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Poor appetite, Diarrhea, Tachypnea, Hypoxemia, Respiratory failure, Vomiting, Pleural effusion, N... |
ORPHA:542323 |
Sialuria |
|
Thin upper lip vermilion, Macroglossia, High palate, Protuberant abdomen, Long philtrum, Attentio... |
OMIM:269921 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Tachypnea, Respiratory failure, Constipation, Inspiratory stridor, Ventilator dependence with ina... |
OMIM:604320 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Dysphagia, Feeding difficulties, Respiratory failure, Death in childhood, Tube feeding |
OMIM:619847 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Feeding difficulties in... |
ORPHA:308552 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting |
ORPHA:35710 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Feeding difficulties |
OMIM:617239 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Anorexia, Abdominal pain, Malabsorption, Diarrhea, Hypogeusia, Furrowed ton... |
ORPHA:2930 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure, Abnormal palate morphology |
ORPHA:75840 |
Congenital Heart Block |
|
Feeding difficulties in infancy, Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Cyanosis, Gastrointestinal dysmotility, Dysphagia, Paroxysmal bursts of laughter |
ORPHA:391428 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Abdominal pain, Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous hemo... |
ORPHA:335 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Cleft palate, Long philtrum |
ORPHA:166100 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Carious teeth, Thick vermilion border, Widely spaced teeth, Protuberant abd... |
OMIM:617102 |
Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency, Feeding difficulties |
ORPHA:1461 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Abdominal distention, Microcolon |
OMIM:619362 |
Boutonneuse Fever |
|
Abdominal pain, Diarrhea, Respiratory failure, Nausea, Petechiae |
ORPHA:83313 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Feeding difficulties in infancy, Death in infancy, Respiratory failure |
OMIM:614862 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abdominal distention |
ORPHA:369 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:79302 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Wide mouth, Death in infancy, Respiratory failure, Short philtrum |
ORPHA:1194 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Erythema, Urticari... |
ORPHA:343 |
Gonadoblastoma |
|
Abdominal distention, Abdominal pain |
ORPHA:206484 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Thin upper lip vermilion, Abdominal distention, Alveolar ridge overgrowth, Clef... |
OMIM:235255 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... |
ORPHA:3241 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure, Dysphagia |
ORPHA:98755 |
Acrodermatitis Enteropathica |
|
Poor appetite, Anorexia, Malabsorption, Chronic diarrhea, Erythema, Abnormality of the tongue, Ch... |
ORPHA:37 |
Thyroid Ectopia |
|
Macroglossia, Abdominal distention, Jaundice, Constipation |
ORPHA:95712 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Gastrointestinal infarctions, Pleural em... |
ORPHA:2038 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Pierre-Robin sequence, Feeding difficulties, Glossoptosis, High palate,... |
OMIM:613604 |
Ovarian Fibrothecoma |
|
Abdominal distention, Pleural effusion, Abdominal pain |
ORPHA:314478 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Abdominal distention, Death in infancy, Death in childhood |
OMIM:619423 |
Double Outlet Right Ventricle |
|
Cyanosis, Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Cleft palate, Feeding d... |
ORPHA:3426 |
Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia |
OMIM:616540 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain |
ORPHA:83469 |
Pitt-Hopkins-Like Syndrome 2 |
|
Protruding tongue, Feeding difficulties, Wide mouth, Gastroesophageal reflux, Constipation, Hyper... |
OMIM:614325 |
Microvillus Inclusion Disease |
|
Abdominal distention, Diarrhea, Abnormal small intestinal villus morphology, Villous atrophy |
ORPHA:2290 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Supernumerary tooth, Gastroesophageal reflux, Vomiting, Prolonged neonatal jaundice, Ankyloglossia |
OMIM:619525 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Anorexia, Abdominal distention, Jaundice, Episodic abdominal pain |
ORPHA:370348 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Protruding tongue, Abnormal eating behavior, Tongue thrusting, Feeding difficultie... |
ORPHA:98794 |
Whistling Face Syndrome, Recessive Form |
|
Whistling appearance, Narrow mouth, High palate, Long philtrum, Microglossia |
OMIM:277720 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Reye syndrome-like episodes, Dyspnea, Cardiorespiratory arrest, Feeding difficulties, Restrictive... |
ORPHA:26791 |
Meckel Syndrome 14 |
|
Cyanosis, Abdominal distention, Pneumothorax, Cardiorespiratory arrest, Protuberant abdomen |
OMIM:619879 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Feeding difficulties in infancy, Gastrostomy tube feeding in infancy, Cyanotic episode, Nasogastr... |
ORPHA:284417 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polypo... |
OMIM:175500 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Protruding tongue, Intercostal muscle weakness, Respiratory insufficiency, Macro... |
ORPHA:258 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal distention, Vomiting, Nausea, Abdominal pain |
ORPHA:90003 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Hypoventilation, Breathing dysregulation, Feeding difficulties |
OMIM:618232 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Sinusitis, Cutis marmorata, Malabsorption, Abdominal... |
ORPHA:183 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Constipation, Vomiting, Chronic hepatic... |
ORPHA:469 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... |
ORPHA:449280 |
Castleman Disease |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abdominal distention, Jaundice, Dysp... |
ORPHA:160 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Feeding difficulties |
OMIM:620269 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:601847 |
Bnar Syndrome |
|
Anteriorly placed anus, Anal stenosis, Short lingual frenulum |
ORPHA:217266 |
Neuroocular Syndrome |
|
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus... |
OMIM:619539 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Protruding tongue, Tongue thrusting, Feeding difficulties, Wide mouth, Widely spaced teeth, Dysph... |
ORPHA:98795 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Pediatric Systemic Lupus Erythematosus |
|
Abdominal pain, Dyspnea, Abdominal distention, Diarrhea, Oral ulcer, Vomiting, Pleural effusion |
ORPHA:93552 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Bowel incontinence, Recurrent pneumonia, Feed... |
ORPHA:496641 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Normochromic... |
OMIM:611881 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Chronic diarrhea, Glossitis, Poor appetite |
ORPHA:2221 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... |
OMIM:259720 |
Niemann-Pick Disease, Type A |
|
Feeding difficulties in infancy, Constipation, Vomiting, Protuberant abdomen, Prolonged neonatal ... |
OMIM:257200 |
Pai Syndrome |
|
Median cleft lip, Bifid uvula, Cleft palate, Abnormal oral frenulum morphology |
ORPHA:1993 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
Necrotizing Enterocolitis |
|
Apnea, Abdominal distention, Diarrhea, Bloody diarrhea, Vomiting |
ORPHA:391673 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... |
OMIM:220110 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Tented upper lip vermilion, Pneumonia, Abnormal respiratory system physiology, Feeding difficulti... |
ORPHA:98905 |
Malignant Atrophic Papulosis |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal fistula, Telangiectasia of the skin,... |
ORPHA:679 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation |
OMIM:603689 |
Orofaciodigital Syndrome Ix |
|
Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft palate, High palat... |
OMIM:258865 |
Terminal Osseous Dysplasia |
|
Cleft palate, Thick vermilion border, Accessory oral frenulum |
OMIM:300244 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:211600 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption |
ORPHA:71 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Bowel incontinence, Respiratory failure, Gastroesophageal re... |
OMIM:616482 |
Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Death in infancy, Intestinal malrotation, Hypoperistalsis, Abdominal distent... |
ORPHA:2241 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cutis marmorata, Malabsorption, Feeding difficulties in infancy, Abdominal ... |
ORPHA:3260 |
Congenital Fiber-Type Disproportion Myopathy |
|
Dental crowding, Poor appetite, Hypercapnia, Respiratory insufficiency due to muscle weakness, Na... |
ORPHA:2020 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Anorexia, Diarrhea, Cheilitis, Gastroesophageal reflux, Glossitis |
ORPHA:90045 |
Afibrinogenemia, Congenital |
|
Death in infancy, Epistaxis, Hematemesis, Death in adolescence, Gingival bleeding, Death in child... |
OMIM:202400 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Hyperactivity, Abnormal eating behavior, Ast... |
ORPHA:209905 |
Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Respiratory failure, Bruising susceptibility |
ORPHA:3226 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... |
OMIM:615512 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
Achondrogenesis, Type Ii |
|
Cleft palate, Stillbirth, Protuberant abdomen, Long philtrum |
OMIM:200610 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Anorexia, Paralytic ileus, Respiratory failur... |
ORPHA:2912 |
Faciocardiomelic Dysplasia, Lethal |
|
Neonatal death, Microglossia, Narrow mouth |
OMIM:227270 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... |
OMIM:258860 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure, Tented upper lip vermilion, Narrow palate |
OMIM:616505 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Feeding dif... |
OMIM:618291 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Apnea, Feeding difficulties in infancy, Diarrhea... |
OMIM:608836 |
Donohue Syndrome |
|
Wide mouth, Abdominal distention, Thick lower lip vermilion, Gingival overgrowth |
OMIM:246200 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Hyperbilirubinemia |
OMIM:214950 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypocholesterolemia |
OMIM:607765 |
Celiac Disease, Susceptibility To, 1 |
|
Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Vomiting, Recurrent aphthous stom... |
OMIM:212750 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough |
ORPHA:99931 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Hypoperistalsis |
OMIM:619365 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... |
ORPHA:199241 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:619685 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Pleural effusion, Nausea |
ORPHA:64739 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Abdominal pain, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pu... |
ORPHA:563 |
Cystic Echinococcosis |
|
Eosinophilia, Abscess, Hyperbilirubinemia, Splenic cyst, Peritoneal abscess |
ORPHA:400 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Widely spaced teeth, Respiratory insufficiency |
OMIM:135100 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea, Hepatic failure |
OMIM:261680 |
Orofaciodigital Syndrome Type 6 |
|
Apnea, Episodic tachypnea, Hamartoma of tongue, Feeding difficulties in infancy, Midline notch of... |
ORPHA:2754 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge |
OMIM:617127 |
Platyspondylic Dysplasia, Torrance Type |
|
Abdominal distention, Cleft palate |
ORPHA:85166 |
Ethylmalonic Encephalopathy |
|
Diarrhea, Acrocyanosis, Petechiae |
ORPHA:51188 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Feeding difficulties in infancy, Diarrhea, Hypogeusia, Decreased sensitivity to hypoxemia, Gastro... |
OMIM:223900 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure, Restlessness, Death in childhood |
OMIM:617186 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure, High palate, Orofacial cleft |
OMIM:618804 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub... |
OMIM:251880 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations, Respiratory insufficiency |
OMIM:620285 |
Angelman Syndrome |
|
Hyperactivity, Gastrostomy tube feeding in infancy, Protruding tongue, Aggressive behavior, Tongu... |
ORPHA:72 |
Trisomy 8Q |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morphology, Everted ... |
ORPHA:1752 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Intestinal malrotation, Productive cough, Wheezing, Bronchiectasis... |
ORPHA:244 |
Dravet Syndrome |
|
Obsessive-compulsive trait, Cyanotic episode, Impulsivity |
ORPHA:33069 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Neonatal respiratory distress, Protuberant abdomen |
OMIM:187600 |
Cardioacrofacial Dysplasia 1 |
|
Diastema, Short philtrum, Accessory oral frenulum, Conical tooth |
OMIM:619142 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency, Feeding difficul... |
OMIM:613845 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Jaundi... |
ORPHA:275761 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Dysphagia |
ORPHA:171430 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... |
OMIM:200990 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Neonatal respiratory distress, Short lingual frenulum, Feeding difficulties, Widely spaced teeth,... |
OMIM:619479 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:555874 |
Lymphatic Malformation 7 |
|
Respiratory distress, Abdominal distention, Pleural effusion, Chylothorax |
OMIM:617300 |
Mesomelia-Synostoses Syndrome |
|
Aplasia/Hypoplasia of the uvula, High, narrow palate, Narrow mouth, Abnormal oral frenulum morpho... |
ORPHA:2496 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Hiatus hernia, Aggressive behavior, Feeding difficulties, Wide mouth, Self... |
ORPHA:2896 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Caroli Syndrome |
|
Liver abscess, Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Leukopenia, Hyperbilir... |
ORPHA:480520 |
Schimke Immuno-Osseous Dysplasia |
|
Abdominal distention, Abnormal primary molar morphology, Abnormal intestine morphology, Hypodonti... |
ORPHA:1830 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Bowel incontinence, Tongue fasciculations, Attention deficit hyperactivity disord... |
ORPHA:276198 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:60025 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Abdominal distention, Rectal atresia, Respiratory failure, Narrow mouth, ... |
OMIM:617666 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Long philtrum |
OMIM:617895 |
Graft Versus Host Disease |
|
Hemophagocytosis, Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:39812 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Accessory oral frenulum, Hypoplasia of teeth |
ORPHA:88630 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:613812 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Abdominal distention, Jaundice, Hepatic failure |
OMIM:617156 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia |
OMIM:619075 |
Kleefstra Syndrome 1 |
|
Natal tooth, Protruding tongue, Persistence of primary teeth, Aggressive behavior, Tracheobroncho... |
OMIM:610253 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
Aicardi-Goutieres Syndrome 1 |
|
Feeding difficulties in infancy, Erythema, Multiple gastric polyps, Prolonged neonatal jaundice, ... |
OMIM:225750 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia |
OMIM:614886 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Feeding di... |
ORPHA:1329 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, High, narrow palate, Downturned corners of mouth, Respiratory fail... |
ORPHA:3015 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency, Hepatic failure |
ORPHA:159 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis, Tented upper lip vermilion |
ORPHA:896 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Abdominal distention, Alveolar ridge overgrowth, High palate, Protein-l... |
ORPHA:1655 |
Ethylene Glycol Poisoning |
|
Cyanosis, Gastritis, Abnormal pattern of respiration, Tachypnea, Episodic respiratory distress, V... |
ORPHA:31826 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Thick lower lip vermilion, Acrocyanosis, Long philtrum |
OMIM:614407 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea, Dysphagia |
OMIM:617301 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Aglossia, Cleft palate, Narrow mouth, Tracheomalacia, Microglossia |
OMIM:202650 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Death in infancy, Diarrhea, Esophageal varix, Vomiting, Protuberant abdome... |
OMIM:278000 |
Polyembryoma |
|
Abdominal distention, Abdominal pain |
ORPHA:180229 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Cleft palate, Protuberant abdomen |
OMIM:184250 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Protuberant abdomen |
OMIM:618272 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Abdominal pain, Neonatal asphyxia, Diarrhea, Erythema, Re... |
ORPHA:420741 |
Tetrasomy 5P |
|
Respiratory distress, Cyanosis, High palate, Long philtrum, Pulmonary arterial hypertension |
ORPHA:3309 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Apnea, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, ... |
ORPHA:2751 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Skin fragility with non-... |
ORPHA:158684 |
Diaphanospondylodysostosis |
|
Respiratory distress, Respiratory insufficiency, Cleft palate, Protuberant abdomen, Tracheomalacia |
OMIM:608022 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubinemia, Neut... |
OMIM:557000 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Aggressive behavior, Dysphagia |
ORPHA:488627 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
X-Linked Acrogigantism |
|
Diastema, Abdominal distention, Polyphagia |
ORPHA:300373 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Abdominal pain, Abdominal distention, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
Schneckenbecken Dysplasia |
|
Cleft palate, Stillbirth, Protuberant abdomen |
OMIM:269250 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Macroglossia |
OMIM:242860 |
Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Bowel incontinence, Feeding difficulties in infancy, Respiratory... |
ORPHA:365 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Cyanosis, High palate |
ORPHA:3304 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Apnea, Feeding difficulties in infancy, Respiratory insufficiency, Re... |
OMIM:252010 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Abetalipoproteinemia |
|
Reticulocytosis, Decreased HDL cholesterol concentration, Acanthocytosis, Decreased LDL cholester... |
ORPHA:14 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Respiratory insuffici... |
OMIM:269860 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Cutis marmorata, Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion borde... |
OMIM:612938 |
7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Collectionism, Hyperactivity, Short lingual frenulum, Cutis marmorata, ... |
ORPHA:96121 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Neonatal respiratory distress, Protruding tongue, Gingival overgrowth, Wide mouth, Tracheomalacia... |
OMIM:618797 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Protruding tongue, Neonatal asphyxia, Jaundice, Respiratory insufficiency, Feed... |
OMIM:608779 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diarrhea, Vomiting, Respiratory failure |
ORPHA:3240 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Cleft palate, Accessory oral frenulum, Feeding difficulties |
ORPHA:79113 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Respiratory distress, Reye syndrome-like episodes, Jaundice, Abdominal dis... |
OMIM:256810 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Exaggerated cupid's bow, Feeding difficulties, Macroglossia, Respiratory failure, Open mouth |
ORPHA:254528 |
Cardioacrofacial Dysplasia 2 |
|
Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep philtrum, Short philtrum... |
OMIM:619143 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Aggressive behavior, Celiac disease, Gastroin... |
ORPHA:293987 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency, Feeding difficulties |
OMIM:609015 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Respiratory failure, Fragile skin, Cleft palate |
ORPHA:158687 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... |
ORPHA:95455 |
Carey-Fineman-Ziter Syndrome 1 |
|
Pierre-Robin sequence, Bowel irritability, Respiratory insufficiency, Feeding difficulties, Cleft... |
OMIM:254940 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Glossoptosis, Laryngotracheomalacia, Abnormal respiratory system physiology |
ORPHA:93346 |
Moebius Syndrome |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Feeding difficulties in infancy, Cleft palate... |
ORPHA:570 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Thrombocytopenia |
OMIM:208085 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Gastrointestinal dysmotility, Vomiting, Gastroesophageal reflux, Self-mutilation... |
OMIM:270400 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Ena... |
ORPHA:79403 |
Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:614153 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Furrowed tongue |
ORPHA:2928 |
Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Feeding difficulties in infa... |
ORPHA:989 |
Angelman Syndrome |
|
Hyperactivity, Protruding tongue, Feeding difficulties in infancy, Wide mouth, Macroglossia, Cons... |
OMIM:105830 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p... |
OMIM:252100 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Protruding tongue, Recurrent pneumonia, Gingival overgrowth, Feeding difficulties, Chronic consti... |
OMIM:619179 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Recurrent pneumonia, Cleft palate, Furrowed tongue, Constipation, Gas... |
OMIM:616449 |
Infantile Krabbe Disease |
|
Respiratory distress, Nasogastric tube feeding in infancy, Feeding difficulties, Respiratory fail... |
ORPHA:206436 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Abdominal pain, Hematemesis, Dyspnea, Diarrhea, Melen... |
ORPHA:340 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Feeding difficulties in infancy, Abdominal distention, Stridor, Macroglossia, Constipation |
OMIM:218700 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis |
OMIM:608885 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Elevated... |
OMIM:619351 |
Caroli Disease |
|
Liver abscess, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Abnormal circulating al... |
ORPHA:53035 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... |
ORPHA:3008 |
Nicolaides-Baraitser Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Short lingual frenulum, Aggressive behavior, High, nar... |
OMIM:601358 |
Mitochondrial Trifunctional Protein Deficiency |
|
Feeding difficulties in infancy, Respiratory insufficiency, Respiratory failure, Poor suck, Chron... |
ORPHA:746 |
Primary Biliary Cholangitis |
|
Celiac disease, Abdominal distention, Jaundice, Gastrointestinal inflammation, Dermatographic urt... |
ORPHA:186 |
Bloom Syndrome |
|
Pneumonia, Poor appetite, Esophageal neoplasm, Chronic pulmonary obstruction, Cheilitis, Telangie... |
ORPHA:125 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Microglossia, Median cleft lip, Cleft palate |
OMIM:241800 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Hiatus hernia, Dys... |
ORPHA:3342 |
Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
ORPHA:69665 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Midgut malrotation, Cyanosis, Short lingual frenulum, Cleft palate |
ORPHA:2326 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Deep philtrum, Non-midline cleft lip, Chronic diarrhea, Recurrent pneumonia, Cleft... |
ORPHA:647 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Protuberant abdomen |
OMIM:151210 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Protuberant abdomen |
OMIM:613330 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia |
ORPHA:3201 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Feeding difficulties in infancy, Dyspnea, Respiratory insufficiency, Respirator... |
OMIM:610505 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia |
ORPHA:73272 |
Wilson Disease |
|
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, ... |
OMIM:277900 |
Developmental And Epileptic Encephalopathy 31B |
|
Protruding tongue, Gingival overgrowth, Feeding difficulties, Constipation, Tube feeding, Choking... |
OMIM:620352 |
Familial Visceral Myopathy |
|
Abdominal distention, Aganglionic megacolon, Cleft palate |
ORPHA:2604 |
Tarp Syndrome |
|
Cyanosis, Apnea, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Ab... |
ORPHA:2886 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Thin vermilion border |
OMIM:602557 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Feeding difficulties, Wide mouth... |
OMIM:618106 |
Mucopolysaccharidosis Type 3 |
|
Hyperactivity, Malabsorption, Abnormality of the dentition, Aggressive behavior, Hypersexuality, ... |
ORPHA:581 |
Down Syndrome |
|
Prematurely aged appearance, Aganglionic megacolon, Protruding tongue, Abnormality of the dentiti... |
ORPHA:870 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Glucagonoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97280 |
Fibrochondrogenesis 2 |
|
Protuberant abdomen |
OMIM:614524 |
Fibrochondrogenesis 1 |
|
Narrow mouth, Cleft palate, Stillbirth, Protuberant abdomen, Long philtrum |
OMIM:228520 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip... |
OMIM:616367 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Abnormal stomach morphology, Neonatal asphyxia, Wheezing, Dyspnea... |
ORPHA:141127 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Short uvula, Cleft palate, Agenesis of permanent teeth, Fused teeth, High... |
OMIM:614091 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Glossoptosis, Upper airway obstruction, Cleft palate |
ORPHA:440354 |
Reynolds Syndrome |
|
Calcinosis, Splenomegaly, Lymphopenia, Hyperbilirubinemia |
OMIM:613471 |
Bartsocas-Papas Syndrome 2 |
|
Accessory oral frenulum, Bilateral cleft lip and palate |
OMIM:619339 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Nasogastric tube feeding |
ORPHA:280210 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Feeding difficulties in infancy, Carious teeth, Xero... |
ORPHA:1051 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Macrodontia, Protruding tongue, Diastema, Aggressive behavior, Gingival overgrowth, Wide mouth, T... |
OMIM:212066 |
Geleophysic Dysplasia 3 |
|
Pneumonia, Dyspnea, Respiratory failure, Thick vermilion border, Long philtrum |
OMIM:617809 |
3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax, Feeding difficulties |
ORPHA:445038 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Decreased liver function, Respiratory insufficiency, Feeding difficulties |
OMIM:618329 |
Recombinant 8 Syndrome |
|
Cleft upper lip, Abnormality of the dentition, Gingival overgrowth, Cleft palate, Downturned corn... |
ORPHA:96167 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea |
ORPHA:860 |
Developmental And Epileptic Encephalopathy 80 |
|
Death in infancy, Tented upper lip vermilion, Protruding tongue, Feeding difficulties, Wide mouth... |
OMIM:618580 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Upper airway obstruction |
ORPHA:93352 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Cleft palate, Feeding difficulties, Glossoptosis... |
ORPHA:1393 |
Psoriasis 14, Pustular |
|
Erythema, Geographic tongue, Furrowed tongue |
OMIM:614204 |
Hartnup Disease |
|
Cutaneous photosensitivity, Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia |
OMIM:613404 |
Fumarase Deficiency |
|
Polycythemia, Hyperbilirubinemia |
OMIM:606812 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis, Dysphagia |
ORPHA:589 |
Autoimmune Hepatitis |
|
Splenomegaly, Increased total bilirubin |
ORPHA:2137 |
9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Gastrointestinal dysmotility, Abnormal tongue morphology |
ORPHA:531151 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Mulibrey Nanism |
|
Dental crowding, Dental malocclusion, Hypodontia, Microglossia, Enamel hypoplasia |
OMIM:253250 |
You-Hoover-Fong Syndrome |
|
Cleft palate, Paroxysmal bursts of laughter, Accessory oral frenulum |
OMIM:616954 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Feeding difficulties, Macroglossia, Pleural effusion |
OMIM:261740 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, High, narrow palate, Submucous cleft hard palate, Cleft palate, Fe... |
ORPHA:2554 |
Joubert Syndrome 18 |
|
Lobulated tongue, Cleft palate |
OMIM:614815 |
Schimke Immunoosseous Dysplasia |
|
Microdontia, Dyspnea, Pulmonary arterial hypertension, Protuberant abdomen |
OMIM:242900 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Erosion of oral mucosa, Pneumonia, Abnormal oral mucosa morphology, Dyspnea... |
ORPHA:79404 |
Acquired Purpura Fulminans |
|
Hepatic failure, Acrocyanosis, Macular purpura |
ORPHA:49566 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Cleft palate, Furrowed tongue,... |
ORPHA:453499 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Tongue fasciculations |
OMIM:601596 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Aganglionic megacolon, Abdominal distention, Diarrhea, Abnor... |
ORPHA:653 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Enamel hypoplasia, Carious teeth, Protuberant abdomen |
OMIM:277440 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... |
ORPHA:31204 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Vomiting, Death in childhood |
OMIM:618252 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue |
ORPHA:53351 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Hamartoma of tongue, Cleft lip, Respiratory insufficiency, Cleft palate, Incomplete ... |
OMIM:616300 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration |
OMIM:614887 |
Leigh Syndrome |
|
Gastrointestinal dysmotility, Feeding difficulties, Respiratory failure, Dysphagia, Hepatic failu... |
ORPHA:506 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, Feeding difficulties in infancy, Nasogastric tube feeding in infan... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, Feeding difficulties in infancy, Nasogastric tube feeding in infan... |
ORPHA:352665 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Malabsorption, Chronic diarrhea, Recurrent pneumonia, Glossoptosis |
ORPHA:47 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Thin upper lip vermilion, Hyperactivity, Restlessness, Aggressive behavior, Diastema, Furrowed to... |
OMIM:300534 |
Currarino Syndrome |
|
Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Chronic cons... |
OMIM:176450 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
Tarp Syndrome |
|
Meckel diverticulum, Cleft palate, Tongue nodules, Glossoptosis, High palate, Neonatal death, Hep... |
OMIM:311900 |
Mucopolysaccharidosis, Type Vii |
|
Gingival overgrowth, Macroglossia, Widely spaced teeth, Protuberant abdomen, Airway obstruction |
OMIM:253220 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pseudobulbar paralysis, Nasogastric tube feeding |
ORPHA:268943 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea |
ORPHA:309031 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure, Abnormality of the dentition |
ORPHA:88618 |
Achondrogenesis, Type Ia |
|
Stillbirth, Protuberant abdomen, Protruding tongue |
OMIM:200600 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Protruding tongue, Stereotypical hand wringing, Feeding difficulties, Everted lower lip vermilion... |
OMIM:617804 |
Fanconi-Bickel Syndrome |
|
Abdominal distention, Hepatic failure |
ORPHA:2088 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Secretory diarrhea |
OMIM:214700 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Furrowed tongue |
ORPHA:2483 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... |
ORPHA:99106 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con... |
ORPHA:79277 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossoptosis, Thin vermili... |
ORPHA:1358 |
Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
Orofaciodigital Syndrome Type 4 |
|
Median cleft lip, Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiv... |
ORPHA:2753 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Feeding difficulties in infancy, Abdominal distention |
ORPHA:309256 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly |
ORPHA:168577 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia, Protuberant abdomen |
OMIM:264700 |
Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Bowel incontinence, Dysphagia |
OMIM:617114 |
20Q11.2 Microduplication Syndrome |
|
Tented philtrum, Tented upper lip vermilion, Gingival overgrowth, Abnormal oral frenulum morphology |
ORPHA:363659 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Feeding difficulties in infancy, Pierre-Robin sequence, Cleft palate, G... |
OMIM:611209 |
Mandibuloacral Dysplasia |
|
Dental crowding, Increased subcutaneous truncal adipose tissue, Abnormal tongue morphology, Hypop... |
ORPHA:2457 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth |
OMIM:615065 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Aggressive behavior, High, narrow palate, Re... |
ORPHA:464738 |
Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating fatty-acid conc... |
ORPHA:567983 |
Viss Syndrome |
|
Chronic gastritis, Prominent superficial blood vessels, High, narrow palate, High palate, Gastroe... |
OMIM:619472 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Pursed lips, Apnea, Carious teeth, Respiratory insufficiency, Feeding difficult... |
OMIM:601559 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Respiratory failure, Dysphagia, Chronic sinusitis |
OMIM:615636 |
Neu-Laxova Syndrome 2 |
|
Cleft palate, High palate, Protuberant abdomen |
OMIM:616038 |
Ring Chromosome 22 Syndrome |
|
Pleural effusion, Inappropriate behavior, Thick vermilion border, Protruding tongue |
ORPHA:1446 |
Hurler Syndrome |
|
Gingival overgrowth, Macroglossia, Thick vermilion border, Protuberant abdomen, Microdontia |
OMIM:607014 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thrombocytopenia, Hyperbilirubinemia, Hypocalcemia, Anemia |
ORPHA:163979 |
9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Death in infancy, Pierre-Robin sequence, Gingival overgrowth, Downturned corners of mouth, Respir... |
OMIM:300868 |
Niemann-Pick Disease Type C |
|
Aggressive behavior, Jaundice, Respiratory insufficiency, Feeding difficulties, Respiratory failu... |
ORPHA:646 |
Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Jaundice, Diarrhea, Respiratory fai... |
ORPHA:533 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Intestinal malrotation, Tachypnea, Esophageal varix, Respiratory insufficiency, Feeding difficult... |
OMIM:613658 |
Hypoglossia-Hypodactylia |
|
Microglossia, Aglossia, Narrow mouth |
OMIM:103300 |
Orofaciodigital Syndrome Vi |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomplete cleft of ... |
OMIM:277170 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Narrow mouth, Bifid uvula |
ORPHA:1790 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... |
ORPHA:99104 |
Opsismodysplasia |
|
Respiratory insufficiency, Protuberant abdomen, Long philtrum |
OMIM:258480 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Erythematous oral mucosa, Chronic diarrhea, Recurrent pneumonia, Furrowed tongue, Mele... |
OMIM:158310 |
Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Tented upper lip vermilion, Intestinal pseudo... |
ORPHA:273 |
Lethal Kniest-Like Dysplasia |
|
Cleft palate, Protuberant abdomen |
ORPHA:2347 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Intestinal malrota... |
OMIM:616268 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granuloma, Hyperbilirubinemia |
ORPHA:562639 |
Giant Cell Arteritis |
|
Epistaxis, Anorexia, Abdominal pain, Gastrointestinal infarctions, Cough, Hepatic failure, Glossitis |
ORPHA:397 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia, Thrombocytopenia |
ORPHA:464321 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Protruding tongue, High, narrow palate, Dysphagia, Feeding difficu... |
OMIM:214100 |
Atelosteogenesis Type Ii |
|
Thin upper lip vermilion, Bilateral cleft palate, Cleft palate, Protuberant abdomen, Long philtru... |
ORPHA:56304 |
Orofaciodigital Syndrome Type 1 |
|
Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue... |
ORPHA:2750 |
Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical... |
ORPHA:289 |
Dyggve-Melchior-Clausen Disease |
|
Respiratory insufficiency due to muscle weakness, Hyperactivity, Protuberant abdomen |
ORPHA:239 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hypoventilation, Polydipsia, Spontaneous pneumothorax, Jaundice, Rec... |
ORPHA:731 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Epistaxis, Carious teeth, Diarrhea, Enterocolitis, Ulcerative colitis, Oral ulcer, Gingivitis, In... |
ORPHA:79259 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u... |
ORPHA:2752 |
Seckel Syndrome 2 |
|
Microdontia, Microglossia |
OMIM:606744 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Splenomegaly, Elevated circulating phytanic acid concentration, He... |
OMIM:614866 |
Joubert Syndrome 1 |
|
Central apnea, Hyperactivity, Episodic tachypnea, Protruding tongue, Aggressive behavior, Macrogl... |
OMIM:213300 |
Mucolipidosis Type Ii |
|
Respiratory failure requiring assisted ventilation, Gingival overgrowth, Stridor, Restrictive ven... |
ORPHA:576 |
Chand Syndrome |
|
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis, Respiratory insufficiency |
ORPHA:2031 |
Yellow Fever |
|
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... |
ORPHA:99829 |
Cowden Syndrome 5 |
|
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth, Subcuta... |
OMIM:615108 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha... |
ORPHA:805 |
Atelosteogenesis, Type I |
|
Neonatal death, Cleft palate, Stillbirth, Protuberant abdomen |
OMIM:108720 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate |
ORPHA:2001 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abdominal distention |
ORPHA:309263 |
Cranioectodermal Dysplasia 1 |
|
High, narrow palate, Ectodermal dysplasia, High palate, Widely spaced teeth, Protuberant abdomen,... |
OMIM:218330 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Tachypnea, Cleft palate, Vomiting, Cough |
ORPHA:137675 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Protruding tongue, Diastema, Abnormal repetitive mannerisms, Thick lower lip vermilion, Widely-sp... |
OMIM:301040 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Cleft palate, High palate, Narrow mouth, Microdontia, Microglossia |
ORPHA:1307 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Abdominal distention, Bloody diarrhea, Intestinal atresia, Rectal abscess... |
ORPHA:436252 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Splenomegal... |
OMIM:619991 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Feeding difficulties... |
ORPHA:193 |
Double Outlet Left Ventricle |
|
Cyanosis, Tachypnea, Orofacial cleft |
ORPHA:3427 |
Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, Abnormality of the denti... |
ORPHA:1452 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Dental crowding, Abnormality of the dentition, Gingival over... |
ORPHA:769 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... |
OMIM:610655 |
Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality, Abnormality of the dentition |
ORPHA:349 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Aglossia |
OMIM:241310 |
Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Poor appetite, Constipation, Vomiting, Glossitis |
ORPHA:35858 |
Lethal Faciocardiomelic Dysplasia |
|
Microglossia, Narrow mouth |
ORPHA:1972 |
Lelis Syndrome |
|
Carious teeth, Hypodontia, Furrowed tongue |
ORPHA:140936 |
Mucolipidosis Ii Alpha/Beta |
|
Recurrent pneumonia, Gingival overgrowth, Wide mouth, Macroglossia, Protuberant abdomen, Death in... |
OMIM:252500 |
Holzgreve Syndrome |
|
Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate |
ORPHA:2167 |
Metachromatic Leukodystrophy, Adult Form |
|
Abdominal distention, Bowel incontinence |
ORPHA:309271 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... |
ORPHA:79138 |
Cowden Syndrome 6 |
|
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth, Subcuta... |
OMIM:615109 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure |
OMIM:620327 |
C Syndrome |
|
Wide mouth, Thick anterior alveolar ridges, High palate, Accessory oral frenulum |
OMIM:211750 |
Marshall-Smith Syndrome |
|
Open mouth, Bruising susceptibility, Gingival overgrowth, Protruding tongue |
ORPHA:561 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Short lingual frenulum, Anteriorly placed anus, Widely-spaced maxillary central incisors, Short p... |
OMIM:608980 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Difficulty in tongue movements, Reduced vital capacity, Respiratory insufficiency, Tongue atrophy |
ORPHA:99956 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Microglossia, Narrow mouth |
ORPHA:990 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Tracheoesophageal fistula, Feeding difficulties, High palate, Stomatiti... |
OMIM:277380 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Protruding tongue, Gingival overgrowth, Chronic constipation, Gastroe... |
OMIM:619777 |
Odontoonychodermal Dysplasia |
|
Erythema, Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spac... |
OMIM:257980 |
Treacher-Collins Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm... |
ORPHA:861 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enamel hypoplasia, Protuberant abdomen |
ORPHA:289157 |
Juvenile Sialidosis Type 2 |
|
Protruding tongue, Gingival overgrowth, Dysphagia |
ORPHA:93399 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Splenomegaly |
ORPHA:30391 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... |
ORPHA:980 |
Cerebrocostomandibular Syndrome |
|
Neonatal respiratory distress, Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre... |
OMIM:117650 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia, Neutropenia |
ORPHA:163956 |
Doors Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentit... |
ORPHA:79500 |
Au-Kline Syndrome |
|
Dental malocclusion, Cleft palate, Feeding difficulties, Downturned corners of mouth, Oligodontia... |
OMIM:616580 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Miscarriage, Deep philtrum, Feeding difficulties, Restrictive ventila... |
ORPHA:96334 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Glossitis, Cleft palate, Feeding difficulties |
ORPHA:79284 |
Marshall-Smith Syndrome |
|
Eclabion, Irregular dentition, Apnea, Short mandibular rami, Pyloric stenosis, Gingival overgrowt... |
OMIM:602535 |
Senior-Boichis Syndrome |
|
Increased total bilirubin, Anemia, Hepatosplenomegaly |
ORPHA:84081 |
Ogden Syndrome |
|
Iron deficiency anemia, Hyperbilirubinemia, Polycythemia, Thrombocytopenia |
OMIM:300855 |
Degcags Syndrome |
|
Pancytopenia, Congenital hypoplastic anemia, Hepatosplenomegaly, Leukopenia, Iron deficiency anem... |
OMIM:619488 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Oral mucosal blisters, Erythema, Feeding difficulties, Smooth tongue, Enamel hypoplasia, Generali... |
ORPHA:79396 |
Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... |
ORPHA:364577 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
Gm1-Gangliosidosis, Type Ii |
|
Narrow mouth, Protruding tongue, Gingival overgrowth, Dysphagia |
OMIM:230600 |
Raine Syndrome |
|
Death in infancy, Natal tooth, Protruding tongue, Gingival overgrowth, Cleft palate, Wide mouth, ... |
OMIM:259775 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Abdominal distention, Wh... |
ORPHA:97214 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Long philtrum, Protuberant abdomen, Protruding tongue |
ORPHA:50945 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... |
ORPHA:2905 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Chronic diarrhea, C... |
ORPHA:500150 |
Cranioectodermal Dysplasia 2 |
|
Splenomegaly, Hyperbilirubinemia, Polysplenia |
OMIM:613610 |
Orofaciodigital Syndrome Type 10 |
|
Cleft soft palate, Accessory oral frenulum, Long philtrum |
ORPHA:2756 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Abnormality ... |
ORPHA:2108 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cleft upper lip, Abdominal distention, Esophageal atresia, Respiratory insufficiency, Ectopic anu... |
ORPHA:93271 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Protruding tongue, Feeding difficulties, High palate, Constipation, Att... |
OMIM:617062 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Abdominal distention, Anal atresia |
OMIM:271520 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
Fontaine Progeroid Syndrome |
|
High, narrow palate, Anteriorly placed anus, Oligodontia, Gastroesophageal reflux, Microdontia, N... |
OMIM:612289 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Per... |
OMIM:180700 |
Cowden Syndrome 1 |
|
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth, Subcuta... |
OMIM:158350 |
Smith-Lemli-Opitz Syndrome |
|
Cutis marmorata, Abnormal dental enamel morphology, Aganglionic megacolon, Abnormal dental morpho... |
ORPHA:818 |
Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Bifid uvula, Cleft palate |
ORPHA:1427 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... |
OMIM:608670 |
Costello Syndrome |
|
Pyloric stenosis, Pneumothorax, Thick lower lip vermilion, Respiratory insufficiency, Macroglossi... |
OMIM:218040 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Progeroid facial appearance, Erythema, Thick lower lip vermilion, Death in adolescence, Premature... |
OMIM:256040 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Protruding tongue, Feeding difficulties, Downturned corners of mouth, Macroglossia, Everted lower... |
ORPHA:96147 |
Hardikar Syndrome |
|
Hypersplenism, Splenomegaly, Hepatosplenomegaly, Hyperbilirubinemia, Thrombocytopenia |
OMIM:301068 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis |
OMIM:617478 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of permanent teeth, A... |
OMIM:616894 |
Charcot-Marie-Tooth Disease Type 4C |
|
Hypoventilation, Tongue atrophy, Respiratory insufficiency, Tongue fasciculations, Difficulty in ... |
ORPHA:99949 |
Myhre Syndrome |
|
Thin upper lip vermilion, Cleft lip, Respiratory insufficiency, Cleft palate, Respiratory failure... |
OMIM:139210 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Abdominal pain, Gastrointestinal inflamma... |
ORPHA:48435 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, High palate, Short ... |
ORPHA:958 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Jaundice, Feeding difficulties, Stomatitis, Pulmonary a... |
ORPHA:79282 |
C Syndrome |
|
Death in infancy, Accessory oral frenulum, Gingival overgrowth, Cleft palate, Thin vermilion bord... |
ORPHA:1308 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Feeding difficulties in infancy, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Abdominal distention, Rectal prolapse, Megarectum, Thick ver... |
ORPHA:508 |
Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Oral ulcer, Protuberant abdomen |
OMIM:232220 |
Agel Amyloidosis |
|
Tongue atrophy, Bruising susceptibility, Xerostomia, Dermatological manifestations of systemic di... |
ORPHA:85448 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Everted lower lip vermilion, Smooth philtrum, Protruding tongue |
ORPHA:324410 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Abnormal dental enamel morphology, Dyspnea, Erythema, Feeding difficulties,... |
ORPHA:2556 |
Spondyloepiphyseal Dysplasia Congenita |
|
Glossoptosis, Laryngotracheomalacia, Abnormal respiratory system physiology, Cleft palate |
ORPHA:94068 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Glossoptosis, Cleft palate |
ORPHA:436003 |
Congenital Sialidosis Type 2 |
|
Protruding tongue, Gingival overgrowth, Petechiae, Telangiectasia |
ORPHA:93400 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Thin upper lip vermilion, Asthma, Downturned corners of mouth, Glossoptosis, Macroglossia, Long p... |
ORPHA:444077 |
Pachyonychia Congenita 3 |
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Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
Pyknoachondrogenesis |
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Abdominal distention, Abnormality of mouth shape |
ORPHA:3003 |
Bilateral Perisylvian Polymicrogyria |
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Apnea, Protruding tongue, Feeding difficulties, Pseudobulbar paralysis, Gastroesophageal reflux, ... |
ORPHA:98889 |
Weill-Marchesani Syndrome 2 |
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Narrow palate, Tooth malposition, High palate, Protuberant abdomen |
OMIM:608328 |
Dermatomyositis |
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Telangiectasia of the skin, Feeding difficulties in infancy, Gastrointestinal stroma tumor, Eryth... |
ORPHA:221 |
Icf Syndrome |
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Macroglossia, Malabsorption, Protruding tongue |
ORPHA:2268 |
Leukocyte Adhesion Deficiency Type Ii |
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Severe periodontitis, Protruding tongue, Deep philtrum, Chronic diarrhea, Recurrent pneumonia, Gi... |
ORPHA:99843 |
Hypermobile Ehlers-Danlos Syndrome |
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Nausea and vomiting, Apnea, Abnormality of the dentition, Malabsorption, Gastrointestinal dysmoti... |
ORPHA:285 |
Orofaciodigital Syndrome Type 14 |
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Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Aplasia of the epiglottis, Cle... |
ORPHA:434179 |
Microsporidiosis |
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Sinusitis, Pneumonia, Anorexia, Abdominal pain, Chronic diarrhea, Rhinitis, Vomiting, Intermitten... |
ORPHA:2552 |
Heterotaxy, Visceral, 7, Autosomal |
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Cyanosis, Intestinal malrotation |
OMIM:616749 |
Greenberg Dysplasia |
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Neonatal death, Stillbirth, Protuberant abdomen |
OMIM:215140 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Aganglionic megacolon, Abdominal distention, Pyloric stenosis, Submuco... |
OMIM:235730 |
Kawasaki Disease |
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Nausea and vomiting, Abdominal pain, Jaundice, Diarrhea, Cheilitis, Palmoplantar erythema, Glossitis |
ORPHA:2331 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Accessory oral frenulum, Wide mouth, Macroglossia, Widely spaced teeth, High palate, Microdontia,... |
OMIM:266920 |
Charcot-Marie-Tooth Disease Type 1F |
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Restless legs, Tongue atrophy |
ORPHA:101085 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at... |
OMIM:613091 |
Goodpasture Syndrome |
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Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... |
OMIM:233450 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Cleft lip, Feeding difficulties, Furrowed tongue, High palate, Gastroesophageal reflux, Broad alv... |
OMIM:616975 |
Vascular Ehlers-Danlos Syndrome |
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Prematurely aged appearance, Telangiectasia of the skin, Premature loss of primary teeth, Abnorma... |
ORPHA:286 |
Glycogen Storage Disease Ia |
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Intermittent diarrhea, Protuberant abdomen |
OMIM:232200 |
Plague |
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Respiratory distress, Chapped lip, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Enterocolitis... |
ORPHA:707 |
Familial Dysautonomia |
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Feeding difficulties in infancy, Acrocyanosis, Gastroesophageal reflux |
ORPHA:1764 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Conjugated hyperbilirubinemia |
OMIM:208500 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Abdominal distention, Jaundice, Asthma, Esophageal varix, Gastroesophageal reflux, Everted lower ... |
OMIM:619534 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
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Microdontia, Oral leukoplakia, Furrowed tongue |
OMIM:148210 |
Cardiac Valvular Dysplasia 2 |
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Central cyanosis |
OMIM:620067 |
Robinow Syndrome, Autosomal Recessive 1 |
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Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Gingival overgrowth, Wide ... |
OMIM:268310 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Cleft palate, Hamartoma of tongue, Accessory oral frenulum |
OMIM:616546 |
Primary Hyperoxaluria |
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Cutis marmorata, Abnormality of the dentition, Rootless teeth, Abnormal dental pulp morphology, A... |
ORPHA:416 |
Autosomal Dominant Robinow Syndrome |
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Median cleft lip and palate, Open bite, High, narrow palate, Abnormality of the gingiva, Supernum... |
ORPHA:3107 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
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Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea |
ORPHA:99050 |
Otopalatodigital Syndrome Type 2 |
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Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia, Narrow mouth, Anodontia |
ORPHA:90652 |
Ritscher-Schinzel Syndrome 2 |
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Intestinal malrotation, High palate, Short philtrum, Protruding tongue |
OMIM:300963 |
Atresia Of Urethra |
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Abdominal distention |
ORPHA:105 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Hypoplastic philtrum, Protru... |
OMIM:309580 |
Coffin-Lowry Syndrome |
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Cutis marmorata, Rectal prolapse, Thick lower lip vermilion, Dental malocclusion, Narrow palate, ... |
OMIM:303600 |
Heterotaxy, Visceral, 1, X-Linked |
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Respiratory distress, Cyanosis, Posteriorly placed anus, Anal atresia, Duodenal atresia |
OMIM:306955 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Dyspnea, Submucous cleft hard palate, Cleft palate, Respiratory failure, Thick vermilion border, ... |
ORPHA:2636 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Hyperbilirubinemia |
OMIM:210710 |
Pelvis-Shoulder Dysplasia |
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Thick anterior alveolar ridges, Microglossia, Cleft palate |
ORPHA:2839 |
Classical Ehlers-Danlos Syndrome |
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Prematurely aged appearance, Poor wound healing, Nausea, Hiatus hernia, Rectal prolapse, Chronic ... |
ORPHA:287 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Wide mouth, High palate, Short lingual frenulum |
ORPHA:1521 |
Distal Deletion 12Q |
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Hyperactivity, Median cleft lip, High, narrow palate, Supernumerary tooth, Esophageal atresia, Py... |
ORPHA:96149 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Respiratory distress, Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Aplasia of ... |
OMIM:617088 |
Frontorhiny |
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Bifid tongue, Cleft palate |
ORPHA:391474 |
Pallister-Hall Syndrome |
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Natal tooth, Cleft upper lip, Cleft palate, Anteriorly placed anus, Neonatal death, Microglossia,... |
OMIM:146510 |
Ulbright-Hodes Syndrome |
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Respiratory distress, Pneumothorax, Respiratory failure, Thin vermilion border, High palate, Narr... |
ORPHA:3404 |
Stickler Syndrome |
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Abnormal dental enamel morphology, Cleft upper lip, Feeding difficulties in infancy, Open bite, C... |
ORPHA:828 |
Neurooculorenal Syndrome |
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Conjugated hyperbilirubinemia |
OMIM:620305 |
Generalized Pustular Psoriasis |
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Geographic tongue, Cheilitis |
ORPHA:247353 |
Stüve-Wiedemann Syndrome |
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Respiratory distress, Apnea, Abnormality of the dentition, Feeding difficulties in infancy, Asthm... |
ORPHA:3206 |
Otopalatodigital Syndrome, Type Ii |
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Cleft palate, Respiratory insufficiency, Respiratory failure, Stillbirth, Narrow mouth |
OMIM:304120 |
Congenital Total Pulmonary Venous Return Anomaly |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... |
ORPHA:99125 |
Pallister-Hall Syndrome |
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Natal tooth, Accessory oral frenulum, Cleft lip, Paroxysmal bursts of laughter, Cleft palate, Res... |
ORPHA:672 |
Catel-Manzke Syndrome |
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Cleft upper lip, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow mouth, Bi... |
OMIM:616145 |
Lenz-Majewski Hyperostotic Dwarfism |
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Prominent scalp veins, Cutis marmorata, Abnormality of the dentition, Cleft palate, Anteriorly pl... |
OMIM:151050 |
Choreoacanthocytosis |
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Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Protruding tongue... |
ORPHA:2388 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
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Respiratory insufficiency due to muscle weakness, Tongue atrophy |
ORPHA:466768 |
Distal Deletion 15Q |
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Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Short philtrum, Attention d... |
ORPHA:1596 |
Peters-Plus Syndrome |
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Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, C... |
OMIM:261540 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Protuberant abdomen |
OMIM:618019 |
Meckel Syndrome, Type 1 |
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Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, ... |
OMIM:249000 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Microglossia |
OMIM:263520 |
Cowden Syndrome |
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Furrowed tongue, Hamartomatous polyposis, Macroglossia, High palate, Colorectal polyposis, Mucosa... |
ORPHA:201 |
Yunis-Varon Syndrome |
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Premature loss of primary teeth, Abnormality of dental structure, Pyloric stenosis, High, narrow ... |
ORPHA:3472 |
Hyperoxaluria, Primary, Type I |
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Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Orofaciodigital Syndrome Xiv |
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Natal tooth, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Aplasia of the epiglottis, Clef... |
OMIM:615948 |
Cousin Syndrome |
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Microglossia, Alveolar ridge overgrowth, Cleft palate |
OMIM:260660 |
Congenital Disorder Of Glycosylation, Type Iim |
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Neonatal hyperbilirubinemia |
OMIM:300896 |
Fraser Syndrome |
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Death in infancy, Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial... |
ORPHA:2052 |
Generalized Arterial Calcification Of Infancy |
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Respiratory distress, Cyanosis, Feeding difficulties, Vomiting, Pulmonary arterial hypertension |
ORPHA:51608 |
Aicardi-Goutières Syndrome |
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Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice |
ORPHA:51 |
Truncus Arteriosus |
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Cyanosis, Tachypnea |
ORPHA:3384 |
Okamoto Syndrome |
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Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati... |
ORPHA:2729 |
Meckel Syndrome |
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Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue |
ORPHA:564 |
Cardiac Valvular Dysplasia 1 |
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Cyanosis |
OMIM:212093 |
Johanson-Blizzard Syndrome |
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Conjugated hyperbilirubinemia, Splenomegaly, Hypocalcemia, Increased VLDL cholesterol concentration |
OMIM:243800 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Exaggerated median tongue furrow, Neonatal respiratory distress, Intestinal malrotation, Submucou... |
OMIM:312870 |
Down Syndrome |
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Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia |
OMIM:190685 |
Congenitally Corrected Transposition Of The Great Arteries |
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Cyanosis |
ORPHA:216694 |
Carney Complex |
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Dorsocervical fat pad, Neoplasm of the stomach, Esophageal neoplasm, Tongue nodules, Neoplasm of ... |
ORPHA:1359 |
Microphthalmia, Syndromic 6 |
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Microglossia, High palate, Bifid uvula, Cleft palate |
OMIM:607932 |