Phosphoserine Aminotransferase Deficiency |
|
Apnea, Cerebellar vermis hypoplasia, Death in infancy, Cyanotic episode |
OMIM:610992 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Apnea, Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis |
OMIM:300864 |
Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... |
OMIM:220200 |
Cholesterol Pneumonia |
|
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia |
OMIM:215030 |
Apnea, Central Sleep |
|
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration |
OMIM:207720 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Cyanosis, Chiari malformation, Inspiratory stridor, Dysphagia, S... |
OMIM:207950 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Central apnea, Death in infancy, Ventriculomegaly, Respiratory failure |
OMIM:611722 |
Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis |
OMIM:219400 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Apnea, Respiratory insufficiency, Ventriculomegaly |
OMIM:617290 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
Joubert Syndrome 23 |
|
Apnea, Dysplastic corpus callosum, Cerebellar dysplasia, Tachypnea |
OMIM:616490 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Laryngotracheoesophageal Cleft |
|
Impaired oropharyngeal swallow response, Cyanosis, Cough, Aspiration, Neonatal respiratory distre... |
ORPHA:2004 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Apnea, Death in infancy |
OMIM:618235 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Apnea, Central sleep apnea, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar atrophy, Neonatal... |
ORPHA:168486 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Apnea, Hydrocephalus, Aqueductal stenosis, Cyanosis, Abnormal medulla oblongata... |
ORPHA:1136 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Episodic tachypnea, Apneic episodes in infancy, Agenesis of cerebellar vermis, Cer... |
ORPHA:163961 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Apnea, Cerebellar hypoplasia |
OMIM:615228 |
Sudden Infant Death Syndrome |
|
Apneic episodes in infancy |
OMIM:272120 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Cyanosis, Crackles, Wheezing, Pneumothorax, Cough, Res... |
ORPHA:1302 |
Joubert Syndrome 30 |
|
Apnea, Superior cerebellar dysplasia, Tachypnea, Ventriculomegaly, Cerebellar atrophy, Dandy-Walk... |
OMIM:617622 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure |
OMIM:263000 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Abnormal respiratory system physiology, Chronic lung disease, ... |
ORPHA:70589 |
Pontocerebellar Hypoplasia Type 2 |
|
Apnea, Dysplastic corpus callosum, Impaired oropharyngeal swallow response, Cerebellar hypoplasia... |
ORPHA:2524 |
Pontocerebellar Hypoplasia, Type 6 |
|
Apnea, Death in childhood, Cerebellar hypoplasia, Cerebellar atrophy |
OMIM:611523 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum, Apneic episodes in infancy |
OMIM:619111 |
Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Respiratory failure, Death in infancy, Ventriculomegaly |
OMIM:617248 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Cough, Tachypnea, Intercostal retractions, Reduced forced vital c... |
ORPHA:91359 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... |
OMIM:254210 |
Pontocerebellar Hypoplasia Type 4 |
|
Respiratory failure requiring assisted ventilation, Olivopontocerebellar hypoplasia, Central apnea |
ORPHA:166063 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Respiratory insufficiency, Neonatal death, Cerebellar atrophy, Respiratory failure |
OMIM:610127 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis |
ORPHA:2901 |
Joubert Syndrome 9 |
|
Apnea, Encephalocele, Episodic tachypnea, Ventriculomegaly |
OMIM:612285 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dysp... |
OMIM:265120 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... |
OMIM:605809 |
Laryngeal Abductor Paralysis |
|
Dysphagia, Cyanosis, Stridor |
OMIM:150260 |
Asbestos Intoxication |
|
Oxygen desaturation on exertion, Reduced vital capacity, Nonproductive cough, Cyanosis, Reduced f... |
ORPHA:2302 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea |
ORPHA:71277 |
Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Dysphagia, Apnea, Respiratory insufficiency, Cerebellar atrophy |
OMIM:618226 |
Pontocerebellar Hypoplasia, Type 16 |
|
Apnea, Hypoplasia of the pons, Cerebellar hypoplasia, Ventriculomegaly, Dysphagia |
OMIM:619527 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Nonspecific interstitial pneumonia, Cyanosis, Neonatal death, Tachyp... |
OMIM:610921 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Respiratory insufficiency, Respiratory failure |
OMIM:613869 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Agenesis of corpus callosum, Ventriculomegaly, Apneic episodes precipitated by illness, fatigue, ... |
OMIM:312170 |
Hereditary Methemoglobinemia |
|
Exertional dyspnea, Cyanosis, Cerebellar atrophy |
ORPHA:621 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... |
ORPHA:2414 |
Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
Ravine Syndrome |
|
Apnea |
ORPHA:99852 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Decreased DLCO, Cough, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Dyspnea |
OMIM:610910 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... |
OMIM:220220 |
Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... |
ORPHA:137914 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ventilatory ... |
ORPHA:2257 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Cyanosis, Respiratory insufficiency, In... |
OMIM:610913 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Apneic episodes in infancy |
ORPHA:500545 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Leukodystrophy, Hypomyelinating, 4 |
|
Apnea |
OMIM:612233 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Respiratory failure, Death in infancy |
OMIM:616277 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
Developmental And Epileptic Encephalopathy 61 |
|
Apnea |
OMIM:617933 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Apnea, Respiratory insufficiency |
OMIM:617239 |
Myoclonus, Intractable, Neonatal |
|
Dysphagia, Apnea |
OMIM:617235 |
Myasthenic Syndrome, Congenital, 16 |
|
Apnea |
OMIM:614198 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... |
ORPHA:98913 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Dysphagia, Apnea, Respiratory insufficiency |
OMIM:618198 |
Joubert Syndrome With Renal Defect |
|
Apnea, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal pattern of respiration, Encephalocel... |
ORPHA:220497 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Apnea, Ventriculomegaly, Cerebellar atrophy |
OMIM:619797 |
Nemaline Myopathy 2 |
|
Dysphagia, Apnea, Respiratory insufficiency due to muscle weakness |
OMIM:256030 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Abnormal cerebellum morphology, Hypoplasia of the pons, Dilated fourth ventricle, ... |
ORPHA:370959 |
Acute Interstitial Pneumonia |
|
Nonproductive cough, Cyanosis, Crackles, Tachypnea, Decreased DLCO, Pleural effusion, Bronchiecta... |
ORPHA:79126 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Cerebellar atrophy, Central apnea |
ORPHA:320385 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Dysphagia, Apnea, Respiratory failure, Central hypoventilation |
OMIM:618233 |
Congenital Myasthenic Syndrome |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... |
ORPHA:98914 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Cyanosis, Lateral ventricle dilatation, Ventriculomegaly, Dysphagia |
ORPHA:488627 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia, Cerebellar atrophy, Dysphagia |
ORPHA:79264 |
Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea, Cerebellar atrophy |
ORPHA:79097 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Joubert Syndrome With Ocular Defect |
|
Apnea, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal pattern of respiration, Encephalocel... |
ORPHA:220493 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Apnea, Respiratory insufficiency |
OMIM:614462 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Apneic episodes in infancy, Cerebellar hypoplasia, Lateral ventricle di... |
ORPHA:3078 |
Joubert Syndrome |
|
Apnea, Hydrocephalus, Episodic tachypnea, Cerebellar vermis hypoplasia, Abnormal pattern of respi... |
ORPHA:475 |
Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Apnea, Erythema, Neonatal death |
OMIM:610015 |
Developmental And Epileptic Encephalopathy 99 |
|
Ventriculomegaly, Cerebellar atrophy, Central apnea |
OMIM:619606 |
Joubert Syndrome 3 |
|
Elongated superior cerebellar peduncle, Episodic tachypnea, Central apnea, Cerebellar vermis hypo... |
OMIM:608629 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elongated superior cerebellar peduncle, Apnea, Abnormal cerebellum morphology, Colpocephaly, Dila... |
ORPHA:397715 |
Tetrasomy 5P |
|
Respiratory distress, Hydrocephalus, Cyanosis, Cerebellar hypoplasia, Pulmonary arterial hyperten... |
ORPHA:3309 |
Auriculocondylar Syndrome 2 |
|
Apnea, Snoring |
OMIM:614669 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Sleep apnea, Hydrocephalus, Pulmonary arterial hypertension, Central apnea |
OMIM:616482 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis |
OMIM:250800 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Apnea, Respiratory insufficiency, Hypercapnia, Apneic episodes in infancy, Ventriculomegaly |
OMIM:618222 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Dysphagia, Apnea, Ventriculomegaly |
OMIM:608809 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Apnea |
OMIM:618236 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Decreased DLCO, Cough, Restrictive ventilatory defect, Hypoxemia, Dyspnea |
ORPHA:747 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Apnea, Death in infancy |
OMIM:614498 |
Joubert Syndrome With Oculorenal Defect |
|
Apnea, Hydrocephalus, Tachypnea, Cerebellar vermis hypoplasia, Encephalocele |
ORPHA:2318 |
Joubert Syndrome 7 |
|
Episodic tachypnea, Central apnea, Tachypnea, Neonatal breathing dysregulation, Encephalocele |
OMIM:611560 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Bronchospasm, Cardiorespiratory arrest, Abnormal pattern of respiration, Stridor |
OMIM:608800 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Apnea |
OMIM:618225 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Inferior cerebellar vermis hypoplasia, Retrocerebel... |
OMIM:614831 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Hyperventilation, Ventriculomegaly |
OMIM:617903 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Cyanotic episode |
ORPHA:284417 |
2Q24 Microdeletion Syndrome |
|
Central apnea |
ORPHA:1617 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Central hypoventilation, Apnea, Respiratory failure |
OMIM:619483 |
Gaucher Disease, Type Ii |
|
Dysphagia, Apnea, Recurrent aspiration pneumonia |
OMIM:230900 |
Congenital Tracheomalacia |
|
Apnea, Tracheomalacia, Decreased peak expiratory flow, Cyanosis, Respiratory insufficiency, Neona... |
ORPHA:95430 |
Pontocerebellar Hypoplasia, Type 7 |
|
Apnea, Hydrocephalus, Hypoplasia of the pons, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:614969 |
Poretti-Boltshauser Syndrome |
|
Cerebellar cyst, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar dysplasia |
OMIM:615960 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Anencephaly, Cerebellar hypoplasia, Occipital encephalocele, Dandy-Walk... |
OMIM:614175 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Cerebellar vermis atrophy, Dilated fourth ventricle |
OMIM:619054 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Cyanosis, Paroxysmal dyspnea, Respiratory failure |
ORPHA:444013 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Pseudo-Torch Syndrome 3 |
|
Cerebellar hypoplasia, Apnea, Respiratory insufficiency, Death in infancy |
OMIM:618886 |
48,Xxyy Syndrome |
|
Apnea, Asthma, Ventriculomegaly |
ORPHA:10 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Inferior cerebellar vermis hypo... |
ORPHA:370022 |
Tenorio Syndrome |
|
Apnea, Hydrocephalus, Ventriculomegaly, Pneumonia |
OMIM:616260 |
Joubert Syndrome 33 |
|
Apnea |
OMIM:617767 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea |
OMIM:619048 |
Neurological Conditions Associated With Aminoacylase 1 Deficiency |
|
Apnea, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:137754 |
Pulmonary Capillary Hemangiomatosis |
|
Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Decreased DLCO, Pleural effusion, Hypox... |
ORPHA:199241 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Apnea, Progressive ventriculomegaly, Cutis marmorata, Cerebellar hypoplasia, Death in infancy |
OMIM:602613 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Central hypoventilation, Apnea, Respiratory insufficiency |
OMIM:300673 |
Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Cyanosis |
OMIM:610773 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Apnea, Cerebellar hypoplasia, Death in infancy, Cerebellar a... |
OMIM:609069 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Petechiae, Neonatal death, Purpura, Ventriculomegaly, Dysphagia |
OMIM:608013 |
Leigh Syndrome With Leukodystrophy |
|
Apnea |
ORPHA:255241 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Apnea, Cyanosis, Ventriculomegaly, Cerebellar atrophy |
OMIM:619580 |
Joubert Syndrome 2 |
|
Elongated superior cerebellar peduncle, Hydrocephalus, Episodic tachypnea, Dysgenesis of the cere... |
OMIM:608091 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenesis of the cerebellar vermis, Tracheobron... |
OMIM:617751 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dysplastic corpus callosum, Progeroid facial appearance, Excessive wrinkled skin, Abnormal cerebe... |
ORPHA:357058 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Dysphagia, Apnea, Hypoventilation, Stridor |
OMIM:617143 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Cyanosis |
OMIM:252320 |
Pulmonary Arteriovenous Malformation |
|
Hemothorax, Pleural empyema, Cyanosis, Cough, Hypoxemia, Dyspnea, Telangiectasia, Pulmonary arter... |
ORPHA:2038 |
Myotonia Fluctuans |
|
Apnea, Stridor, Choking episodes |
ORPHA:99734 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea, Cyanosis |
OMIM:261680 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea |
OMIM:615031 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Apnea, Abnormal cerebellum morphology, Cerebellar atrophy |
OMIM:618056 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Respiratory insufficiency, Death in infancy, Ventriculomegaly, Neonatal respiratory distre... |
OMIM:608836 |
Myopathy, Congenital, Nonprogressive |
|
Neonatal respiratory distress, Apneic episodes in infancy |
OMIM:619967 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Apnea, Central hypoventilation, Ventriculomegaly, Dysphagia, Respiratory fa... |
ORPHA:70474 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Cyanosis, Cough, Tachypnea, Cerebellar malformation, Agenesis of corpus callosum |
ORPHA:137675 |
Meckel Syndrome 14 |
|
Holoprosencephaly, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Occipital encephalocele |
OMIM:619879 |
Joubert Syndrome 6 |
|
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Breathing dysregulation, Cerebe... |
OMIM:610688 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Cerebellar hypoplasia |
OMIM:614407 |
Hsd10 Disease, Infantile Type |
|
Dysphagia, Cyanosis |
ORPHA:391428 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Dysphagia, Apnea, Respiratory failure, Ventriculomegaly |
OMIM:617301 |
Joubert Syndrome With Hepatic Defect |
|
Apnea, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Cerebellar vermis hypoplasia, Abnorma... |
ORPHA:1454 |
Pulmonary Alveolar Microlithiasis |
|
Oxygen desaturation on exertion, Nonproductive cough, Cyanosis, Respiratory insufficiency, Tachyp... |
ORPHA:60025 |
Encephalopathy, Ethylmalonic |
|
Petechiae, Acrocyanosis, Death in infancy |
OMIM:602473 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar gliosis, Aspiration pneumonia, Apneic episodes in infancy, Cerebellar atrophy, Choking... |
ORPHA:35069 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Apnea, Inspiratory stridor |
OMIM:600721 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Apnea, Hydrocephalus, Ventriculomegaly |
ORPHA:395 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar vermis atrophy, Dilated fourth ventricle, Cerebellar atrophy |
ORPHA:1170 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Ventriculomegaly, Dyspnea, ... |
ORPHA:348 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Sepsis In Premature Infants |
|
Petechiae, Cyanosis, Abnormal respiratory system physiology, Abnormal mucociliary clearance, Purp... |
ORPHA:90051 |
Orofaciodigital Syndrome Xvi |
|
Apnea, Ventriculomegaly |
OMIM:617563 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Apnea, Respiratory insufficiency, Jaundice |
OMIM:608093 |
Atypical Rett Syndrome |
|
Abnormal pattern of respiration, Sudden episodic apnea, Episodic tachypnea |
ORPHA:3095 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Cyanosis, Crackles, Elevated pulmonary artery pressure, Tachypnea,... |
ORPHA:1329 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Apnea |
OMIM:614883 |
Hypophosphatasia, Infantile |
|
Apnea, Stillbirth, Death in infancy |
OMIM:241500 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Respiratory insufficiency, Cyanosis, Sudden episodic apnea |
ORPHA:159 |
Joubert Syndrome 1 |
|
Elongated superior cerebellar peduncle, Episodic tachypnea, Dysgenesis of the cerebellar vermis, ... |
OMIM:213300 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation, Hypoventilation |
OMIM:209880 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar atrophy |
ORPHA:251347 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea |
ORPHA:860 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Joubert Syndrome 21 |
|
Elongated superior cerebellar peduncle, Apnea, Occipital encephalocele, Dyspnea |
OMIM:615636 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Respiratory failure requiring assisted ventilation, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:555874 |
Congenital Fibrinogen Deficiency |
|
Bruising susceptibility, Cyanosis, Subcutaneous hemorrhage |
ORPHA:335 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Apnea |
OMIM:616896 |
Auriculocondylar Syndrome 1 |
|
Apnea, Snoring |
OMIM:602483 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy |
OMIM:610006 |
Myotonia, Potassium-Aggravated |
|
Stridor, Apneic episodes in infancy |
OMIM:608390 |
Mucopolysaccharidosis Type 1 |
|
Apnea, Hydrocephalus, Sinusitis, Cough |
ORPHA:579 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Apnea, Death in childhood, Jaundice |
OMIM:214110 |
Fatal Familial Insomnia |
|
Dysphagia, Apnea |
OMIM:600072 |
Marshall-Smith Syndrome |
|
Apnea, Hydrocephalus, Airway obstruction, Aspiration pneumonia, Death in childhood, Cerebellar hy... |
OMIM:602535 |
Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea |
OMIM:314580 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Apnea |
OMIM:300055 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Apnea |
ORPHA:439218 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Asthma, Sinusitis, Urticaria, Cutis marmorata, Respiratory insufficiency, Cough, Purpura, Dysphag... |
ORPHA:183 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation |
ORPHA:314655 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Apnea, Hyperventilation |
OMIM:229700 |
Propionic Acidemia |
|
Apnea, Tachypnea |
OMIM:606054 |
Atrial Septal Defect, Ostium Primum Type |
|
Airway obstruction, Cyanosis, Abnormal respiratory system physiology, Tachypnea, Dyspnea, Exertio... |
ORPHA:99106 |
Plaa-Associated Neurodevelopmental Disorder |
|
Apnea, Impaired oropharyngeal swallow response, Respiratory insufficiency, Ventriculomegaly, Cere... |
ORPHA:521426 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Apnea |
OMIM:612949 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Ventriculom... |
ORPHA:572798 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Spinocerebellar Ataxia 2 |
|
Dysphagia, Cerebellar atrophy, Dilated fourth ventricle, Olivopontocerebellar atrophy |
OMIM:183090 |
Esophageal Atresia |
|
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Oral aversion, Chroni... |
ORPHA:1199 |
Shprintzen-Goldberg Syndrome |
|
Apnea, Chiari malformation, Ventriculomegaly, Communicating hydrocephalus |
ORPHA:2462 |
Developmental And Epileptic Encephalopathy 101 |
|
Apnea |
OMIM:619814 |
Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Erythema, Purpura, Prolonged neonatal jaundice, Cerebellar calcifications, Acrocyanosis |
OMIM:225750 |
Criss-Cross Heart |
|
Respiratory insufficiency, Cyanosis |
ORPHA:1461 |
Atrial Septal Defect, Ostium Secundum Type |
|
Airway obstruction, Cyanosis, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional ... |
ORPHA:99103 |
Hyperekplexia 3 |
|
Apnea |
OMIM:614618 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Tracheomalacia |
ORPHA:896 |
Ethylmalonic Encephalopathy |
|
Petechiae, Acrocyanosis |
ORPHA:51188 |
Double Outlet Right Ventricle |
|
Cyanosis, Tachypnea |
ORPHA:3426 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Dysphagia, Apnea, Respiratory insufficiency, Ventriculomegaly |
OMIM:617527 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Apnea, Cyanosis, Respiratory insufficiency, Death in infancy, Cerebellar atrophy, Respiratory fai... |
OMIM:252010 |
Joubert Syndrome 5 |
|
Episodic tachypnea, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of cerebellar vermis, C... |
OMIM:610188 |
Developmental And Epileptic Encephalopathy 90 |
|
Apneic episodes in infancy |
OMIM:301058 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial agenesis of the corpus callosum, Cyanosis, Death in infancy |
OMIM:617478 |
Mosaic Variegated Aneuploidy Syndrome |
|
Apnea, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Dandy-Walker ma... |
ORPHA:1052 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Myelopathy, Hyperventilation |
ORPHA:79241 |
Biotinidase Deficiency |
|
Apnea, Diffuse cerebellar atrophy, Tachypnea |
OMIM:253260 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension, Increased pulm... |
ORPHA:99104 |
Machado-Joseph Disease |
|
Dysphagia, Dilated fourth ventricle, Cerebellar atrophy |
OMIM:109150 |
Spinocerebellar Ataxia 1 |
|
Dysphagia, Dilated fourth ventricle, Spinocerebellar atrophy, Olivopontocerebellar atrophy |
OMIM:164400 |
Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Hydrocephalus, Tracheomalacia, Spina bifida occulta, Partial agenesis of the corpus callosum |
OMIM:300373 |
Bilateral Perisylvian Polymicrogyria |
|
Apnea, Pseudobulbar paralysis, Cerebellar vermis hypoplasia, Ectopic posterior pituitary, Cerebel... |
ORPHA:98889 |
Myasthenia Gravis |
|
Dysphagia, Dyspnea, Acrocyanosis |
ORPHA:589 |
Arima Syndrome |
|
Occipital meningocele, Aplasia/Hypoplasia of the cerebellar vermis, Dilated fourth ventricle, Age... |
OMIM:243910 |
Hyperekplexia 1 |
|
Apnea, Aspiration |
OMIM:149400 |
Ethylene Glycol Poisoning |
|
Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Tachypnea |
ORPHA:31826 |
Tarp Syndrome |
|
Apnea, Cyanosis, Cerebellar hypoplasia |
ORPHA:2886 |
Rett Syndrome |
|
Apnea, Intermittent hyperventilation |
OMIM:312750 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Respiratory insufficiency, Death in infancy, Premature skin wrinkling, Dysphagia, Pulmonar... |
OMIM:601559 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Flushing, Aspiration, Dysphagia, Oral-pharyngeal dysphagia |
ORPHA:2131 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Purpura, Acrocyanosis, Erythema |
ORPHA:343 |
Machado-Joseph Disease Type 1 |
|
Dysphagia, Dilated fourth ventricle, Cerebellar atrophy |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Dysphagia, Dilated fourth ventricle, Cerebellar atrophy |
ORPHA:276241 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Apnea |
ORPHA:1129 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Rhombencephalosynapsis, Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis hypopl... |
OMIM:619306 |
Unilateral Polymicrogyria |
|
Epistaxis, Apnea, Cyanosis, Pseudobulbar paralysis |
ORPHA:268943 |
Autosomal Recessive Malignant Osteopetrosis |
|
Apnea, Hydrocephalus, Bruising susceptibility, Chronic rhinitis, Pulmonary arterial hypertension |
ORPHA:667 |
Bohring-Opitz Syndrome |
|
Apnea, Ventriculomegaly, Agenesis of corpus callosum, Dandy-Walker malformation, Obstructive slee... |
ORPHA:97297 |
Congenital Left Ventricular Aneurysm |
|
Apnea |
ORPHA:1055 |
Acquired Purpura Fulminans |
|
Macular purpura, Acrocyanosis |
ORPHA:49566 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Bulimia, Central apnea, Polyphagia, Ventriculomegaly, Obstructive sleep apnea |
ORPHA:98754 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Apnea, Erythema, Aspiration, Neonatal respiratory distress, Stridor |
OMIM:614653 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Death in childhood, Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis hypoplasia... |
OMIM:212065 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Bulimia, Central apnea, Polyphagia, Ventriculomegaly, Obstructive sleep apnea |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Bulimia, Central apnea, Polyphagia, Ventriculomegaly, Obstructive sleep apnea |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Bulimia, Central apnea, Polyphagia, Ventriculomegaly, Obstructive sleep apnea |
ORPHA:177901 |
Absence Of The Pulmonary Artery |
|
Nonproductive cough, Cyanosis, Orthopnea, Recurrent pneumonia, Bronchiectasis, Dyspnea, Pulmonary... |
ORPHA:980 |
Genitopatellar Syndrome |
|
Apnea, Agenesis of corpus callosum |
ORPHA:85201 |
Illum Syndrome |
|
Apnea |
OMIM:208155 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Telangiectasia, Telangiectasia of the skin, Reduced FEV1/FVC ratio, Miscarriage, Hemothorax, Cyan... |
OMIM:187300 |
Machado-Joseph Disease Type 3 |
|
Dysphagia, Dilated fourth ventricle, Cerebellar atrophy |
ORPHA:276244 |
Heterotaxy, Visceral, 1, X-Linked |
|
Myelomeningocele, Respiratory distress, Hydrocephalus, Aqueductal stenosis, Cyanosis, Cerebellar ... |
OMIM:306955 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Asthma, Polydipsia, Central hypoventilation, Cyanosis, Polyphagia, Cardiorespiratory arrest, Hypo... |
ORPHA:293987 |
Rare Circulatory System Disease |
|
Cyanosis |
ORPHA:98028 |
Semilobar Holoprosencephaly |
|
Hydrocephalus, Aspiration pneumonia, Chronic lung disease, Neural tube defect, Central apnea, Dys... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Hydrocephalus, Aspiration pneumonia, Chronic lung disease, Neural tube defect, Central apnea, Dys... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Aspiration pneumonia, Chronic lung disease, Neural tube defect, Central apnea, Dys... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Hydrocephalus, Aspiration pneumonia, Chronic lung disease, Neural tube defect, Central apnea, Dys... |
ORPHA:93924 |
Campomelic Dysplasia |
|
Respiratory distress, Apnea, Hydrocephalus, Tracheomalacia, Tracheobronchomalacia, Spinal dysraph... |
OMIM:114290 |
Orofaciodigital Syndrome Type 6 |
|
Apnea, Cerebellar vermis hypoplasia, Episodic tachypnea |
ORPHA:2754 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Episodic respiratory distress, Hyperventilation, Dysphagia, Dyspnea |
ORPHA:255210 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Apnea |
ORPHA:79644 |
Prader-Willi-Like Syndrome |
|
Bulimia, Central apnea, Polyphagia, Ventriculomegaly, Obstructive sleep apnea |
ORPHA:398073 |
Atrioventricular Septal Defect 3 |
|
Cyanosis, Pulmonary arterial hypertension |
OMIM:600309 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Apnea, Hypopnea, Aspiration pneumonia, Restrictive ventilatory defect, Dysphagia, Hypoventilation |
OMIM:619482 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Apnea |
OMIM:210200 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Intermittent hyperventilation, Hypoplasia of the pons, Cerebellar hypop... |
OMIM:300749 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Neonatal asphyxia, Cyanosis, Wheezing, Upper airway obstruction, Dyspnea |
ORPHA:141127 |
Poems Syndrome |
|
Pleural effusion, Restrictive ventilatory defect, Pulmonary arterial hypertension, Acrocyanosis, ... |
ORPHA:2905 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Neuromuscular dysphagia, Sudden episodic apnea |
ORPHA:466722 |
Zaki Syndrome |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle |
OMIM:619648 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Jaundice, Tachypnea |
ORPHA:20 |
Mogs-Cdg |
|
Respiratory distress, Apnea, Hypoventilation |
ORPHA:79330 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Apnea, Hyperventilation, Cerebellar atrophy |
OMIM:617799 |
Ogden Syndrome |
|
Apnea, Prematurely aged appearance, Facial wrinkling, Ventriculomegaly, Aspiration, Restrictive v... |
OMIM:300855 |
Necrotizing Enterocolitis |
|
Apnea |
ORPHA:391673 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
Xp21 Deletion Syndrome |
|
Agenesis of corpus callosum, Apneic episodes in infancy |
ORPHA:261476 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis |
OMIM:261740 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Asthma, Central apnea, Respiratory failure requiring assisted ventilation, Tachypnea, Neonatal re... |
ORPHA:79345 |
Chronic Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Central apnea |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Central apnea |
ORPHA:529799 |
Hermansky-Pudlak Syndrome 10 |
|
Apnea |
OMIM:617050 |
Fucosidosis |
|
Vascular skin abnormality, Acrocyanosis |
ORPHA:349 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Cardiorespiratory arrest, Apnea |
OMIM:608643 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Cyanosis, Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Lip telangiectasia, Dysp... |
OMIM:610655 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Oral cavity telangiectasia, Palmar telangiectasia, Cyanosis, Conjunctival telangiectasia, Spontan... |
OMIM:600376 |
Slc39A8-Cdg |
|
Sudden episodic apnea, Ventriculomegaly, Cerebellar atrophy |
ORPHA:468699 |
Aortic Arch Interruption |
|
Respiratory distress, Exertional dyspnea, Cyanosis, Tachypnea |
ORPHA:2299 |
Schwartz-Jampel Syndrome |
|
Apnea, Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy |
ORPHA:800 |
Meckel Syndrome, Type 1 |
|
Hydrocephalus, Anencephaly, Cerebellar hypoplasia, Dilated fourth ventricle, Chiari malformation,... |
OMIM:249000 |
Goodpasture Syndrome |
|
Increased DLCO, Cyanosis, Crackles, Tachypnea, Cough, Restrictive ventilatory defect, Exertional ... |
OMIM:233450 |
Pitt-Hopkins Syndrome |
|
Hyperventilation, Abnormal pattern of respiration, Acrocyanosis, Sleep apnea |
ORPHA:2896 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Aicardi-Goutières Syndrome |
|
Cutis marmorata, Arrhinencephaly, Ventriculomegaly, Prolonged neonatal jaundice, Acrocyanosis |
ORPHA:51 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased sensitivity to hypoxemia, Acrocyanosis |
OMIM:223900 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Exertional dyspnea, Cyanosis, Pulmonary arterial hypertension |
ORPHA:99050 |
15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle |
ORPHA:261183 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea |
ORPHA:17 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Wheezing, Hypoxemia, Exertional dyspnea, Pulmonary arterial hyper... |
ORPHA:97214 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Sleep apnea, Hyperventilation, Central apnea |
ORPHA:522077 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
Wolfram Syndrome |
|
Respiratory insufficiency, Polydipsia, Central apnea |
ORPHA:3463 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Generalized abnormality of skin, Upper airway obst... |
ORPHA:740 |
Orofaciodigital Syndrome Type 14 |
|
Sleep apnea, Dilated third ventricle, Dilated fourth ventricle, Partial agenesis of the corpus ca... |
ORPHA:434179 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Apnea, Central sleep apnea, Aspiration pneumonia, Breathing dysregulation, Dysphagia, Hypoventila... |
ORPHA:438213 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Asthma, Apnea, Urticaria, Erythema, Facial erythema, Ventric... |
OMIM:619503 |
Dermatomyositis |
|
Telangiectasia of the skin, Respiratory insufficiency, Erythema, Cutaneous photosensitivity, Pulm... |
ORPHA:221 |
Familial Dysautonomia |
|
Acrocyanosis |
ORPHA:1764 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Cyanosis, Paroxysmal dyspnea, Apneic episodes in infancy, Respiratory failu... |
ORPHA:99125 |
Postinfectious Vasculitis |
|
Vasculitis in the skin, Cutis marmorata, Palpable purpura, Pneumonia, Acrocyanosis |
ORPHA:48435 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Asthma |
ORPHA:3206 |
Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Acrocyanosis |
OMIM:259900 |
Truncus Arteriosus |
|
Cyanosis, Tachypnea |
ORPHA:3384 |
Coffin-Lowry Syndrome |
|
Cutis marmorata, Acrocyanosis, Ventriculomegaly |
OMIM:303600 |
Hypermobile Ehlers-Danlos Syndrome |
|
Apnea, Acrocyanosis |
ORPHA:285 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Tachypnea |
ORPHA:2751 |
Primary Hyperoxaluria |
|
Cutis marmorata, Acrocyanosis |
ORPHA:416 |
Diethylstilbestrol Syndrome |
|
Central apnea |
ORPHA:1916 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Dilated fourth ventricle, Aplasia/Hypoplasia of the cerebellum, Cerebellar ... |
ORPHA:480880 |
Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Bruising susceptibility, Poor wound healing, Fragile skin, Ecchymosi... |
ORPHA:287 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cyanosis, Pulmonary arterial hypertension |
ORPHA:51608 |
Neurocardiofaciodigital Syndrome |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle |
OMIM:619869 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
Pallister-Killian Syndrome |
|
Hyperventilation, Stillbirth, Ventriculomegaly, Apneic episodes in infancy |
OMIM:601803 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
|
OMIM:618646 |