Glycine N-Methyltransferase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Gilbert Syndrome |
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Elevated hepatic transaminase, Jaundice, Hepatic failure |
OMIM:143500 |
Laryngotracheoesophageal Cleft |
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Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow ... |
ORPHA:2004 |
Congenital Disorder Of Glycosylation, Type Iip |
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Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Elevated circul... |
OMIM:616829 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
Primary Familial Polycythemia |
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Abnormal hemoglobin, Epistaxis, Dyspnea, Cough, Polycythemia, Exertional dyspnea |
ORPHA:90042 |
Erythrocytosis, Familial, 1 |
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Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
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Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... |
OMIM:147480 |
Cleft Larynx, Posterior |
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Aspiration, Cyanosis |
OMIM:215800 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Cyanosis, Methemoglobinemia, Polycythemia, Exertional dyspnea |
OMIM:250800 |
Spinocerebellar Ataxia Type 8 |
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Impaired vibratory sensation, Ataxia, Limb ataxia, Gait ataxia, Depression, Dysphagia, Aspiration |
ORPHA:98760 |
Portal Hypertension, Noncirrhotic, 1 |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Tempi Syndrome |
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Transudative pleural effusion, Telangiectasia, Hypoxemia, Intracranial hemorrhage, Increased hema... |
ORPHA:284227 |
Dehydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Developmental And Epileptic Encephalopathy 38 |
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Aspiration, Irritability, Ataxia |
OMIM:617020 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Chronic Pneumonitis Of Infancy |
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Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Polycythemia Vera |
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Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
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Elevated hepatic transaminase, Portal hypertension |
OMIM:615506 |
Rett Syndrome, Congenital Variant |
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Chorea, Tongue thrusting, Simplified gyral pattern, Irritability, Athetosis, Bruxism, Aspiration,... |
OMIM:613454 |
Porphyria Due To Ala Dehydratase Deficiency |
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Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Respiratory insu... |
ORPHA:100924 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
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Irritability, Agitation, Dysphagia, Aspiration, Pachygyria, Agyria |
ORPHA:2148 |
Gallbladder Disease 1 |
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Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Perry Syndrome |
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Hypoventilation, Central hypoventilation, Respiratory insufficiency, Depression, Inappropriate be... |
OMIM:168605 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Congestive heart fa... |
ORPHA:3077 |
Obesity-Hypoventilation Syndrome |
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Hypoventilation, Cyanosis |
OMIM:257500 |
Erythrocytosis, Familial, 2 |
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Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
Amyotrophic Lateral Sclerosis 21 |
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Respiratory insufficiency due to muscle weakness, Aspiration, Distal sensory impairment, Dysphagia |
OMIM:606070 |
Alternating Hemiplegia Of Childhood |
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Respiratory distress, Apnea, Ataxia, Cardiac conduction abnormality, Anorexia, Oral-pharyngeal dy... |
ORPHA:2131 |
Fructose-1,6-Bisphosphatase Deficiency |
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Tachycardia, Apnea, Dyspnea, Irritability, Hyperventilation |
OMIM:229700 |
Vocal Cord And Pharyngeal Distal Myopathy |
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Respiratory insufficiency due to muscle weakness, Aspiration, Distal sensory impairment, Dysphagia |
ORPHA:600 |
Oculopharyngodistal Myopathy 1 |
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Respiratory distress, Paroxysmal atrial fibrillation, Ataxia, Hypercapnia, Reduced forced vital c... |
OMIM:164310 |
Pontine Tegmental Cap Dysplasia |
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Aspiration, Ataxia, Dysmetria, Dysphagia |
OMIM:614688 |
Congenital Disorder Of Glycosylation, Type Im |
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Aspiration, Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level |
OMIM:610768 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Hypoventilation, Respiratory insufficiency, Dysphagia, Pulmonary arterial hypertension, Respirato... |
ORPHA:258 |
Hyperekplexia 1 |
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Aspiration, Apnea |
OMIM:149400 |
Poems Syndrome |
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Thrombocytosis, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect,... |
ORPHA:2905 |
Gm2-Gangliosidosis, Ab Variant |
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Aspiration, Chorea |
OMIM:272750 |
Tay-Sachs Disease |
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Aspiration |
OMIM:272800 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Neonatal respiratory distress, Tachycardia, Apnea, Retinal hemorrhage, Stridor, Hypertension, Bra... |
OMIM:614653 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
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Aspiration, Neonatal respiratory distress, Self-mutilation, Dysphagia |
OMIM:618922 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, High-out... |
OMIM:187300 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Fingerpa... |
OMIM:600376 |
Erythrocytosis, Familial, 8 |
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Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Developmental And Epileptic Encephalopathy 100 |
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Chorea, Gait ataxia, Choreoathetosis, Dysphagia, Aspiration, Pachygyria, Abnormal repetitive mann... |
OMIM:619777 |
Bilateral Perisylvian Polymicrogyria |
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Apnea, Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Dysmet... |
ORPHA:98889 |
Neuromuscular Oculoauditory Syndrome |
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Respiratory distress, Aspiration, Periventricular heterotopia |
OMIM:618733 |
Erythrocytosis, Familial, 4 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Erythrocytosis, Familial, 5 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Central Hypoventilation Syndrome, Congenital, 1 |
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Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Decreased heart rate variability, H... |
OMIM:209880 |
Erythrocytosis, Familial, 6 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Erythrocytosis, Familial, 3 |
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Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Esophageal Atresia |
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Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Res... |
ORPHA:1199 |
Livedoid Vasculopathy |
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Pancytopenia, Telangiectasia of the skin, Leukocytosis, Hypertension, Ischemic stroke, Paresthesi... |
ORPHA:542643 |
Halperin-Birk Syndrome |
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Aspiration, Pseudobulbar paralysis |
OMIM:618651 |
Ogden Syndrome |
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Premature atrial contractions, Apnea, Abnormal repetitive mannerisms, Patent ductus arteriosus, V... |
OMIM:300855 |
Adnp Syndrome |
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Respiratory distress, Aggressive behavior, Oral-pharyngeal dysphagia, Compulsive behaviors, Abnor... |
ORPHA:404448 |
Opitz Gbbb Syndrome |
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Aspiration, Dysphagia |
OMIM:300000 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Chorea, Inappropriate behavior |
ORPHA:309246 |
Erythrocytosis, Familial, 7 |
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Increased hematocrit, Polycythemia |
OMIM:617981 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Aspiration, Oral aversion |
ORPHA:96182 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Pneumonia, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnor... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Pneumonia, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnor... |
ORPHA:353277 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Pneumonia, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnor... |
ORPHA:353281 |
Abcd Syndrome |
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Polycythemia |
OMIM:600501 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Portal hypertension, Splenomegaly, Dysdiadochokinesis, Truncal ataxia, Hypertrophic cardiomyopath... |
ORPHA:309854 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hemolytic anemia, Neonatal respiratory distress, Apnea, Portal hypertension, Impulsivity, Asthma,... |
OMIM:619503 |
Hypermanganesemia With Dystonia 1 |
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Polycythemia |
OMIM:613280 |
Fumarase Deficiency |
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Polymicrogyria, Polycythemia, Lissencephaly |
OMIM:606812 |
Von Hippel-Lindau Disease |
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Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
Von Hippel-Lindau Syndrome |
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Hypertension, Polycythemia |
OMIM:193300 |
Leukocyte Adhesion Deficiency |
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Acute myeloid leukemia, Sinusitis, Pneumonia, Lymphocytic interstitial pneumonia, Leukocytosis, B... |
ORPHA:2968 |
Beckwith-Wiedemann Syndrome |
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Splenomegaly, Hypertrophic cardiomyopathy, Polycythemia |
ORPHA:116 |