Glycine N-Methyltransferase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Congenital Disorder Of Glycosylation, Type Iip |
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Decreased circulating ceruloplasmin concentration, Decreased liver function, Hepatic steatosis, E... |
OMIM:616829 |
Primary Familial Polycythemia |
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Polycythemia, Epistaxis, Abnormal hemoglobin, Cough, Exertional dyspnea, Dyspnea |
ORPHA:90042 |
Erythrocytosis, Familial, 1 |
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Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... |
OMIM:133100 |
Laryngotracheoesophageal Cleft |
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Neonatal respiratory distress, Stridor, Cough, Aspiration, Cyanosis, Dyspnea |
ORPHA:2004 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Polycythemia, Exertional dyspnea, Methemoglobinemia, Cyanosis |
OMIM:250800 |
Cleft Larynx, Posterior |
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Cyanosis, Aspiration |
OMIM:215800 |
Perry Syndrome |
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Respiratory arrest, Inappropriate behavior, Respiratory insufficiency, Suicidal ideation, Apathy,... |
OMIM:168605 |
Perry Syndrome |
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Central hypoventilation, Apathy, Hypotension, Depression |
ORPHA:178509 |
Tempi Syndrome |
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Telangiectasia, Hypoxemia, Intracranial hemorrhage, Polycythemia, Transudative pleural effusion, ... |
ORPHA:284227 |
Chronic Pneumonitis Of Infancy |
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Hypoxemia, Tachypnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions, Reduced for... |
ORPHA:91359 |
Dehydrated Hereditary Stomatocytosis |
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Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Spinocerebellar Ataxia Type 8 |
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Ataxia, Impaired vibratory sensation, Aspiration, Limb ataxia, Gait ataxia, Depression |
ORPHA:98760 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo... |
OMIM:214950 |
Polycythemia Vera |
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Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... |
OMIM:263300 |
Central Hypoventilation Syndrome, Congenital, 3 |
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Episodic hypertension, Respiratory failure, Central hypoventilation, Apnea |
OMIM:619483 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hepatomegaly, Acholic stools, Hepatitis, Cirrhosis, Elevated circulating alkaline phosphatase con... |
OMIM:613812 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
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Elevated hepatic transaminase, Portal hypertension |
OMIM:615506 |
Spermatogenic Failure 15 |
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Aspiration |
OMIM:616950 |
Sclerosing Cholangitis, Neonatal |
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Hepatomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrhosis, Portal hy... |
OMIM:617394 |
Obesity-Hypoventilation Syndrome |
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Cyanosis, Hypoventilation |
OMIM:257500 |
Gallbladder Disease 1 |
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Cholangitis, Hepatic fibrosis, Cholelithiasis, Cholesterol gallstones, Elevated circulating alkal... |
OMIM:600803 |
Muscular Dystrophy, Duchenne Type |
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Dilated cardiomyopathy, Respiratory insufficiency, Cardiomyopathy, Hypoventilation, Congestive he... |
OMIM:310200 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
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Akinetic mutism, Pachygyria, Aspiration, Irritability, Agyria |
ORPHA:2148 |
Gm2-Gangliosidosis, Ab Variant |
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Chorea, Aspiration, Apathy |
OMIM:272750 |
Tay-Sachs Disease |
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Aspiration, Apathy |
OMIM:272800 |
Amyotrophic Lateral Sclerosis 21 |
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Distal sensory impairment, Respiratory insufficiency due to muscle weakness, Aspiration |
OMIM:606070 |
Rett Syndrome, Congenital Variant |
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Athetosis, Inappropriate crying, Chorea, Simplified gyral pattern, Pachygyria, Aspiration, Irrita... |
OMIM:613454 |
Fructose-1,6-Bisphosphatase Deficiency |
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Apnea, Tachycardia, Irritability, Dyspnea, Hyperventilation |
OMIM:229700 |
Alternating Hemiplegia Of Childhood |
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Abnormal T-wave, Cardiac conduction abnormality, Choreoathetosis, Chorea, Aggressive behavior, Ap... |
ORPHA:2131 |
Hyperekplexia 1 |
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Aspiration, Apnea |
OMIM:149400 |
Oculopharyngodistal Myopathy 1 |
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Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypercapnia, Respiratory insufficiency due t... |
OMIM:164310 |
Vocal Cord And Pharyngeal Distal Myopathy |
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Distal sensory impairment, Respiratory insufficiency due to muscle weakness, Aspiration |
ORPHA:600 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Intercostal muscle weakness, Reduced ejection fraction, Respiratory insufficiency, Pulmonary arte... |
ORPHA:258 |
Poems Syndrome |
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Thrombocytosis, Paresthesia, Polycythemia, Respiratory insufficiency due to muscle weakness, Pulm... |
ORPHA:2905 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Joubert Syndrome 17 |
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Ataxia, Hyperventilation |
OMIM:614615 |
Pontine Tegmental Cap Dysplasia |
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Dysmetria, Ataxia, Aspiration |
OMIM:614688 |
Holocarboxylase Synthetase Deficiency |
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Tachypnea, Thrombocytopenia, Irritability, Hyperventilation |
OMIM:253270 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
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Panic attack, Hyperventilation, Supraventricular arrhythmia |
ORPHA:420492 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Spontaneous, recurrent epistaxis, Melena, Exertional dyspnea, Transient ischemic attack, Nasal mu... |
OMIM:187300 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
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Self-mutilation, Aspiration, Neonatal respiratory distress |
OMIM:618922 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... |
OMIM:600376 |
Childhood Absence Epilepsy |
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Anxiety, Depression, Hyperventilation, Low self esteem |
ORPHA:64280 |
Neuromuscular Oculoauditory Syndrome |
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Respiratory distress, Aspiration, Periventricular heterotopia |
OMIM:618733 |
Erythrocytosis, Familial, 2 |
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Cerebral hemorrhage, Increased red blood cell mass, Increased hematocrit, Hypotension, Increased ... |
OMIM:263400 |
Central Hypoventilation Syndrome, Congenital, 1 |
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Hypoxemia, Hypercapnia, Apnea, Decreased heart rate variability, Central hypoventilation, Hypoven... |
OMIM:209880 |
Erythrocytosis, Familial, 4 |
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Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
Erythrocytosis, Familial, 6 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Erythrocytosis, Familial, 5 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Opitz Gbbb Syndrome, Type I |
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Aspiration |
OMIM:300000 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Erythrocytosis, Familial, 3 |
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Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Pericardial Effusion, Chronic |
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Polycythemia, Constrictive pericarditis |
OMIM:260900 |
Acute Liver Failure |
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Shock, Intracranial hemorrhage, Abnormal respiratory system physiology, Abnormal pattern of respi... |
ORPHA:90062 |
Livedoid Vasculopathy |
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Leukocytosis, Hypertension, Paresthesia, Ischemic stroke, Polycythemia, Anemia, Telangiectasia of... |
ORPHA:542643 |
Erythrocytosis, Familial, 8 |
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Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:222800 |
Bilateral Perisylvian Polymicrogyria |
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Abnormality of neuronal migration, Dysmetria, Bilateral perisylvian polymicrogyria, Apnea, Perisy... |
ORPHA:98889 |
Hepatocellular Carcinoma |
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Thrombocytosis, Budd-Chiari syndrome, Polycythemia, Anemia, Emotional lability, Thrombocytopenia,... |
ORPHA:88673 |
Esophageal Atresia |
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Chronic pulmonary obstruction, Episodic respiratory distress, Laryngotracheomalacia, Respiratory ... |
ORPHA:1199 |
Erythrocytosis, Familial, 7 |
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Increased hematocrit, Polycythemia |
OMIM:617981 |
Halperin-Birk Syndrome |
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Aspiration |
OMIM:618651 |
Adnp Syndrome |
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Aggressive behavior, Respiratory distress, Aspiration, Anxiety |
ORPHA:404448 |
Opitz Gbbb Syndrome, Type Ii |
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Aspiration, Pulmonary arterial hypertension, Patent ductus arteriosus |
OMIM:145410 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Aspiration, Obstructive sleep apnea |
ORPHA:96182 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Abnormal fear/anxiety-related behavior, Obstructive sleep apnea, Pneumonia, Cardiac conduction ab... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Abnormal fear/anxiety-related behavior, Obstructive sleep apnea, Pneumonia, Cardiac conduction ab... |
ORPHA:353277 |
Von Hippel-Lindau Disease |
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Myocarditis, Hypertension, Polycythemia, Palpitations, Cardiomyopathy, Myocardial infarction, Anx... |
ORPHA:892 |
Fumarase Deficiency |
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Polycythemia, Polymicrogyria |
OMIM:606812 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Hypertrophic cardiomyopathy, Polycythemia, Splenomegaly, Dysdiadochokinesis, Truncal ataxia, Port... |
ORPHA:309854 |
Hypermanganesemia With Dystonia 1 |
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Polycythemia |
OMIM:613280 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hemolytic anemia, Neonatal respiratory distress, Apnea, Hepatosplenomegaly, Aspiration, Low frust... |
OMIM:619503 |
Leukocyte Adhesion Deficiency |
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Sinusitis, Leukocytosis, Thrombocytosis, Lymphocytic interstitial pneumonia, Pneumonia, Bronchiec... |
ORPHA:2968 |
Von Hippel-Lindau Syndrome |
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Polycythemia, Hypertension |
OMIM:193300 |
Beckwith-Wiedemann Syndrome |
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Polycythemia, Sleep apnea, Hypertrophic cardiomyopathy, Splenomegaly |
ORPHA:116 |