Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy, Cerebellar vermis hypoplasia, Apnea |
OMIM:610992 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Hy... |
OMIM:220200 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Hydrocephalus, Spina bifida, Myelomeningocele, Dysphagia, Cyanosis, Inspirat... |
OMIM:207950 |
Perching Syndrome |
|
Respiratory distress, Cyanosis, Dysphagia |
OMIM:617055 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Death in infancy, Ventriculomegaly, Central apnea, Respiratory failure |
OMIM:611722 |
Laryngotracheal Angioma |
|
Intercostal retractions, Cough, Apnea, Respiratory distress, Cyanosis, Stridor, Wheezing |
ORPHA:137935 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Cerebellar hypoplasia, Apnea |
OMIM:615228 |
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, Neonatal respiratory distress, Aspiration, Dyspnea, Coug... |
ORPHA:2004 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea, Cerebellar dysplasia, Dysplastic corpus callosum |
OMIM:616490 |
Obsolete: Arnold-Chiari Malformation Type Ii |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Myelomeningocele, Meningocele, Aqueductal... |
ORPHA:1136 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Hydrocephalus, Ventriculomegaly, Episodic tachypnea, Dysphagia, Da... |
ORPHA:163961 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Central sleep apnea, Apnea, Ventriculomegaly, Cerebellar atrophy, ... |
ORPHA:168486 |
Cryptogenic Organizing Pneumonia |
|
Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Crackles, Pneumo... |
ORPHA:1302 |
Sudden Infant Death Syndrome |
|
Apneic episodes in infancy |
OMIM:272120 |
Pontocerebellar Hypoplasia Type 2 |
|
Impaired oropharyngeal swallow response, Cerebellar cyst, Ventriculomegaly, Apnea, Dysplastic cor... |
ORPHA:2524 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cough, Respiratory distress, Respiratory failure, Tachypnea, Cyanosis |
OMIM:263000 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory insufficiency, Death in infancy, Respiratory failure, Apnea |
OMIM:613869 |
Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Hyperventilation, Cough, Hypoxemia, Respiratory distress, Reduced forced... |
ORPHA:91359 |
Joubert Syndrome 30 |
|
Ventriculomegaly, Apnea, Cerebellar atrophy, Superior cerebellar dysplasia, Tachypnea, Dandy-Walk... |
OMIM:617622 |
Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Respiratory insufficiency, Ventriculomegaly, Apnea |
OMIM:617290 |
Bronchopulmonary Dysplasia |
|
Dyspnea, Abnormal respiratory system physiology, Cough, Chronic lung disease, Respiratory distres... |
ORPHA:70589 |
Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
Pontocerebellar Hypoplasia Type 4 |
|
Olivopontocerebellar hypoplasia, Central apnea, Respiratory failure requiring assisted ventilation |
ORPHA:166063 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hydrocephalus, Apneic episodes in infancy |
OMIM:619111 |
Myoclonus, Intractable, Neonatal |
|
Dysphagia, Impaired oral bolus formation, Dandy-Walker malformation, Apnea |
OMIM:617235 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Respiratory distress, Dy... |
OMIM:254210 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis |
ORPHA:2901 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
Joubert Syndrome 9 |
|
Episodic tachypnea, Ventriculomegaly, Encephalocele, Apnea |
OMIM:612285 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea, Death in infancy, Apnea,... |
OMIM:265120 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor, Dysphagia |
OMIM:150260 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Respiratory distress, Dy... |
OMIM:605809 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Neonatal death, Apnea, Respiratory failure, Cerebellar atrophy |
OMIM:610127 |
Asbestos Intoxication |
|
Dyspnea, Wheezing, Late inspiratory crackles, Decreased DLCO, Restrictive ventilatory defect, Hyp... |
ORPHA:2302 |
Pontocerebellar Hypoplasia, Type 16 |
|
Hypoplasia of the pons, Ventriculomegaly, Dysphagia, Apnea, Cerebellar hypoplasia |
OMIM:619527 |
Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Erythema, Lateral ventricle dilatation, Neonatal death, Apnea |
OMIM:610015 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea |
ORPHA:71277 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Neonatal respiratory distress, Dyspnea, Cough, Paraseptal emphysema, Hypoxemia, Death in infancy,... |
OMIM:610921 |
Hereditary Methemoglobinemia |
|
Cyanosis, Cerebellar atrophy, Exertional dyspnea |
ORPHA:621 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Chronic pulmonary obstruction, Cough, Respiratory distress, Cyan... |
ORPHA:2414 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Sleep apnea, Ventriculomegaly, Respiratory insufficiency, Apnea |
OMIM:618228 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum |
OMIM:615771 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Pontocerebellar Hypoplasia, Type 6 |
|
Death in childhood, Apnea, Cerebellar hypoplasia, Cerebellar atrophy, Cerebellar vermis hypoplasia |
OMIM:611523 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Inspiratory crackles, Dyspnea, Decreased DLCO, Restrictive ventilatory defect, Cough, Hypoxemia, ... |
OMIM:610910 |
Choanal Atresia |
|
Tracheomalacia, Chronic sinusitis, Respiratory distress, Upper airway obstruction, Cyanosis, Chok... |
ORPHA:137914 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Ravine Syndrome |
|
Apnea |
ORPHA:99852 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Restrictive ventilatory defect, Abnormal breath sound, Hypoxemia, ... |
ORPHA:2257 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Respiratory insufficiency, Cough, Hypox... |
OMIM:610913 |
Joubert Syndrome 3 |
|
Neonatal breathing dysregulation, Elongated superior cerebellar peduncle, Lateral ventricle dilat... |
OMIM:608629 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatation, Ventriculomegaly,... |
OMIM:618291 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Agenesis of cerebellar vermis, Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebe... |
OMIM:220220 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Apneic episodes in infancy |
ORPHA:500545 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Infant Acute Respiratory Distress Syndrome |
|
Tachypnea, Hypoxemia, Pneumonia, Respiratory failure, Nasal flaring, Cyanosis |
ORPHA:70587 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Respiratory insufficiency, Dysphagia, Cerebellar atrophy, Apnea |
OMIM:618226 |
Developmental And Epileptic Encephalopathy 61 |
|
Apnea |
OMIM:617933 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Restrictive ventilatory defect, Reduced vital capacity, Respiratory failure, Cyanosis, Orthopnea,... |
ORPHA:98913 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Aspiration pneumonia, Respiratory insufficiency, Apnea, Dysphagia, Ventriculomegaly, Bronchiectas... |
OMIM:618253 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Ventriculomegaly, Cerebellar atrophy, Apnea |
OMIM:619797 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode, Cerebellar vermis hypoplasia, Lateral ventricle dilatation |
ORPHA:284417 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Apneic episodes precipitated by illness, fatigue, stress, Agenesis of corpus callosum, Respirator... |
OMIM:312170 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Occipital encephalocele, ... |
ORPHA:370959 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus, Apnea, Abnormal pattern of respiration, Agenesis of corpus callosum... |
ORPHA:220497 |
Nemaline Myopathy 2 |
|
Dysphagia, Respiratory insufficiency due to muscle weakness, Apnea |
OMIM:256030 |
Acute Interstitial Pneumonia |
|
Dyspnea, Tachypnea, Decreased DLCO, Hypoxemia, Bronchiectasis, Respiratory failure, Nonproductive... |
ORPHA:79126 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Inspiratory stridor, Lateral ventricle dilatation, Apnea |
OMIM:600721 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dysgenesis of the cerebellar vermis, Hyperactivity, Cerebellar dysplasia, Lateral ventricle dilat... |
OMIM:617751 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly, Dysphagia, Dysplastic corpus callosum, Cyanosis |
ORPHA:488627 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Central hypoventilation, Sleep apnea, Dysphagia, Apnea, Respiratory failure |
OMIM:618233 |
Congenital Myasthenic Syndrome |
|
Intermittent episodes of respiratory insufficiency due to muscle weakness, Central sleep apnea, C... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Intermittent episodes of respiratory insufficiency due to muscle weakness, Central sleep apnea, C... |
ORPHA:98914 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Respiratory insufficiency, Dysphagia, Apnea |
OMIM:618198 |
Myasthenic Syndrome, Congenital, 16 |
|
Apnea |
OMIM:614198 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Central apnea, Cerebellar atrophy |
ORPHA:320385 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Aspiration pneumonia, Apnea, Episodic tachypnea, Dysphagia, Cerebellar atrophy |
ORPHA:79264 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia, Cyanosis |
ORPHA:464453 |
Developmental And Epileptic Encephalopathy 99 |
|
Central apnea, Cerebellar atrophy, Ventriculomegaly |
OMIM:619606 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Cerebellar atrophy, Apnea |
ORPHA:79097 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Death in childhood, Apnea |
OMIM:618225 |
Auriculocondylar Syndrome 2 |
|
Respiratory distress, Snoring, Apnea |
OMIM:614669 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus, Apnea, Abnormal pattern of respiration, Agenesis of corpus callosum... |
ORPHA:220493 |
Tetrasomy 5P |
|
Pulmonary arterial hypertension, Hydrocephalus, Respiratory distress, Cerebellar hypoplasia, Cyan... |
ORPHA:3309 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Ventriculomegaly, Agitation, Apnea, Hyperventilation |
OMIM:617903 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Colpocephaly, Dysgenesis of the cerebellar vermis, Meningocele, Occipital encephalocele, Elongate... |
ORPHA:397715 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Lateral ventricle dilatation, Dilated fourth ventricle, Cerebellar hypoplasia, Dandy-Walker malfo... |
ORPHA:3078 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Death in infancy, Apnea |
OMIM:618235 |
Joubert Syndrome |
|
Encephalocele, Hydrocephalus, Apnea, Episodic tachypnea, Abnormal pattern of respiration, Cerebel... |
ORPHA:475 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Ventriculomegaly, Apnea, Cyanosis, Cerebellar atrophy, ... |
OMIM:619580 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Dyspnea, Decreased DLCO, Restrictive ventilatory defect, Cough, Hypoxemia, Cyanosis, Crackles |
ORPHA:747 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Apnea |
OMIM:618236 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Inferior cerebellar vermis hypoplasia, Dilated fourth ventricle, Retrocerebel... |
OMIM:614831 |
Joubert Syndrome 7 |
|
Encephalocele, Neonatal breathing dysregulation, Episodic tachypnea, Central apnea, Tachypnea |
OMIM:611560 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypercapnia, Respiratory insufficiency, Ventriculomegaly, Apnea, Apneic episodes in infancy |
OMIM:618222 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in childhood, Neonatal respiratory distress, Hypopnea, Death in infancy, Apnea, Respiratory... |
OMIM:618426 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Apnea, Tachypnea, Cerebellar vermis hypoplasia |
ORPHA:2318 |
48,Xxyy Syndrome |
|
Ventriculomegaly, Asthma, Attention deficit hyperactivity disorder, Apnea |
ORPHA:10 |
2Q24 Microdeletion Syndrome |
|
Central apnea |
ORPHA:1617 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Stridor, Paroxysmal dyspnea, Respiratory failure |
ORPHA:444013 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Cerebellar vermis atrophy, Dilated fourth ventricle, Cerebellar hypoplasia |
OMIM:213200 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Central hypoventilation, Apnea |
OMIM:619483 |
Congenital Tracheomalacia |
|
Intercostal retractions, Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea,... |
ORPHA:95430 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Cerebellar vermis atrophy, Dilated fourth ventricle |
OMIM:619054 |
Pontocerebellar Hypoplasia, Type 7 |
|
Hydrocephalus, Hypoplasia of the pons, Ventriculomegaly, Apnea, Cerebellar hypoplasia |
OMIM:614969 |
Lissencephaly Due To Tuba1A Mutation |
|
Partial agenesis of the corpus callosum, Ventriculomegaly, Dilated fourth ventricle, Dysplastic c... |
ORPHA:171680 |
Poretti-Boltshauser Syndrome |
|
Cerebellar cyst, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar dysplasia |
OMIM:615960 |
Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Cyanosis |
OMIM:610773 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Dilated fourth ventricle, Anencephaly, Cerebellar hypoplasia, Dandy-Walk... |
OMIM:614175 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar cyst, Elongated superior ... |
ORPHA:370022 |
Neurological Conditions Associated With Aminoacylase 1 Deficiency |
|
Aplasia/Hypoplasia of the cerebellar vermis, Apnea |
ORPHA:137754 |
3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Hypopnea, Death in infancy, Apnea, Dysphagia, Ventriculomegaly, Neonatal death, Respira... |
OMIM:617248 |
Pseudo-Torch Syndrome 3 |
|
Respiratory insufficiency, Death in infancy, Cerebellar hypoplasia, Apnea |
OMIM:618886 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Palmoplantar cutis laxa, Hydrocephalus, Neonatal death, Respirat... |
OMIM:616482 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Tenorio Syndrome |
|
Ventriculomegaly, Recurrent pneumonia, Hydrocephalus, Apnea |
OMIM:616260 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea |
OMIM:619048 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Respiratory insufficiency, Central hypoventilation, Apnea |
OMIM:300673 |
Pulmonary Capillary Hemangiomatosis |
|
Dyspnea, Decreased DLCO, Hypoxemia, Elevated pulmonary artery pressure, Exertional dyspnea, Cyano... |
ORPHA:199241 |
Joubert Syndrome 2 |
|
Encephalocele, Thickened superior cerebellar peduncle, Dysgenesis of the cerebellar vermis, Agene... |
OMIM:608091 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Dysphagia, Restlessness |
ORPHA:391428 |
Gaucher Disease, Perinatal Lethal |
|
Ventriculomegaly, Respiratory distress, Purpura, Dysphagia, Apnea, Neonatal death, Petechiae |
OMIM:608013 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dandy-Walker malformation, Dysplastic corpus callosum, Cerebellar malformation, Progeroid facial ... |
ORPHA:357058 |
Infantile Neuroaxonal Dystrophy |
|
Aspiration pneumonia, Hyperactivity, Choking episodes, Apneic episodes in infancy, Cerebellar atr... |
ORPHA:35069 |
Leigh Syndrome With Leukodystrophy |
|
Apnea |
ORPHA:255241 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Dyspnea, Cough, Hypoxemia, Telangiectasia, Pleural empyema, Cyan... |
ORPHA:2038 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Neonatal death, Death in infancy, Central hypoventilation, Apnea |
OMIM:620167 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Dysphagia, Stridor, Hypoventilation, Apnea |
OMIM:617143 |
Joubert Syndrome 33 |
|
Apnea |
OMIM:617767 |
Atypical Rett Syndrome |
|
Episodic tachypnea, Sudden episodic apnea, Agitation, Abnormal pattern of respiration |
ORPHA:3095 |
Congenital Myopathy 11 |
|
Neonatal respiratory distress, Apneic episodes in infancy |
OMIM:619967 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Cerebellar hypoplasia, Acrocyanosis |
OMIM:614407 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Dysphagia, Ventriculomegaly, Respiratory failure, Apnea |
OMIM:617301 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus, Apnea, Respiratory distress, Cyanosis, Pleural effusion |
OMIM:261740 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea |
OMIM:615031 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Cough, Cerebellar malformation, Tachypnea, Cyanosis, Agenesis of corpus callosum |
ORPHA:137675 |
Myotonia Fluctuans |
|
Choking episodes, Stridor, Apnea |
ORPHA:99734 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bronchospasm, Cardiorespiratory arrest, Apnea, Abnormal pattern of respiration, Stridor |
OMIM:608800 |
Joubert Syndrome 1 |
|
Occipital myelomeningocele, Dysgenesis of the cerebellar vermis, Hyperactivity, Agenesis of cereb... |
OMIM:213300 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Abnormal cerebellum morphology, Agitation, Apnea |
OMIM:618056 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dysphagia, Olivopontocerebellar atrophy, Central apnea, Cerebellar atrophy |
OMIM:615157 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Cardiorespiratory arrest, Holoprosencephaly, Pneumothorax, Cyanosis |
OMIM:619879 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal respiratory distress, Respiratory insufficiency, Death in infancy, Apnea, Ventriculomega... |
OMIM:608836 |
Joubert Syndrome 6 |
|
Thickened superior cerebellar peduncle, Elongated superior cerebellar peduncle, Breathing dysregu... |
OMIM:610688 |
Leigh Syndrome With Cardiomyopathy |
|
Central hypoventilation, Respiratory distress, Dysphagia, Apnea, Ventriculomegaly, Respiratory fa... |
ORPHA:70474 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Death in infancy, Apnea |
OMIM:614498 |
Encephalopathy, Ethylmalonic |
|
Petechiae, Death in infancy, Acrocyanosis |
OMIM:602473 |
Joubert Syndrome With Hepatic Defect |
|
Hydrocephalus, Occipital encephalocele, Apnea, Aplasia/Hypoplasia of the cerebellum, Abnormal pat... |
ORPHA:1454 |
Leukodystrophy, Hypomyelinating, 4 |
|
Apnea |
OMIM:612233 |
Sepsis In Premature Infants |
|
Jaundice, Dyspnea, Abnormal respiratory system physiology, Purpura, Petechiae, Nasal flaring, Cya... |
ORPHA:90051 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Dilated fourth ventricle, Cerebellar hypoplasia |
OMIM:620208 |
Dravet Syndrome |
|
Cyanotic episode, Impulsivity |
ORPHA:33069 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Pulmonary Alveolar Microlithiasis |
|
Dyspnea, Tachypnea, Restrictive ventilatory defect, Respiratory insufficiency, Hypoxemia, Bronchi... |
ORPHA:60025 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Ventriculomegaly, Hydrocephalus, Apnea |
ORPHA:395 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourth ventricle |
ORPHA:1170 |
Joubert Syndrome 21 |
|
Encephalocele, Dyspnea, Chronic sinusitis, Occipital encephalocele, Elongated superior cerebellar... |
OMIM:615636 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis, Dyspnea |
ORPHA:439 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Intermittent hyperventilation, Ventriculomegaly, Respiratory distress, Episodic tachypne... |
ORPHA:348 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Respiratory insufficiency, Cyanosis, Sudden episodic apnea |
ORPHA:159 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Apnea |
OMIM:300055 |
Orofaciodigital Syndrome Xvi |
|
Ventriculomegaly, Apnea |
OMIM:617563 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Apnea |
OMIM:614883 |
Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Wheezing, Pulmonary venous hypertension, Elevated pulmonary artery press... |
ORPHA:1329 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Subcutaneous hemorrhage, Bruising susceptibility |
ORPHA:335 |
Hypophosphatasia, Infantile |
|
Stillbirth, Death in infancy, Apnea |
OMIM:241500 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Hypoxemia, Tachypnea |
ORPHA:860 |
Congenital Tricuspid Valve Dysplasia |
|
Tachypnea, Hypoxemia, Respiratory failure, Respiratory failure requiring assisted ventilation, Cy... |
ORPHA:555874 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia |
ORPHA:251347 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Respiratory insufficiency, Jaundice, Apnea |
OMIM:608093 |
Pancreatic And Cerebellar Agenesis |
|
Agenesis of cerebellar vermis, Cerebellar agenesis, Death in infancy, Apnea, Reduced subcutaneous... |
OMIM:609069 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Apnea |
OMIM:616896 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Respiratory insufficiency, Cyanosis, Apnea |
OMIM:617239 |
Auriculocondylar Syndrome 1 |
|
Snoring, Apnea |
OMIM:602483 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypercapnia, Hypoxemia, Hypoventilation, Central hypoventilation, Apnea, Nocturnal hypoventilation |
OMIM:209880 |
Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Respiratory insufficiency, Cerebellar cortical atrophy, ... |
ORPHA:521426 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy |
OMIM:610006 |
Gaucher Disease, Type Ii |
|
Cough, Death in infancy, Apnea, Dysphagia, Stridor, Recurrent aspiration pneumonia |
OMIM:230900 |
Marshall-Smith Syndrome |
|
Death in childhood, Pulmonary arterial hypertension, Aspiration pneumonia, Hydrocephalus, Apnea, ... |
OMIM:602535 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Respiratory insufficiency, Cough, Urticaria, Dysphagia, Sinusitis, Purpura, Cutis marmorata, Asth... |
ORPHA:183 |
Propionic Acidemia |
|
Tachypnea, Apnea |
OMIM:606054 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Apnea |
ORPHA:439218 |
Criss-Cross Heart |
|
Respiratory insufficiency, Cyanosis |
ORPHA:1461 |
Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea |
OMIM:314580 |
Mucopolysaccharidosis Type 1 |
|
Cough, Sinusitis, Hydrocephalus, Apnea |
ORPHA:579 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Death in childhood, Jaundice, Apnea |
OMIM:214110 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Apnea, Hyperventilation |
OMIM:229700 |
Fatal Familial Insomnia |
|
Dysphagia, Apnea |
OMIM:600072 |
Esophageal Atresia |
|
Aspiration, Chronic pulmonary obstruction, Laryngotracheomalacia, Restrictive ventilatory defect,... |
ORPHA:1199 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Respiratory insufficiency, Ventriculomegaly, Dysphagia, Apnea |
OMIM:617527 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Aspiration pneumonia, Hypoventilation, Apnea, Respiratory distress, Recurrent pneumonia |
ORPHA:314655 |
Developmental And Epileptic Encephalopathy 90 |
|
Apneic episodes in infancy |
OMIM:301058 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Prolonged neonatal jaundice, Purpura, Petechiae, Cerebellar calcifications, Acrocyanosis |
OMIM:225750 |
Atrial Septal Defect, Ostium Primum Type |
|
Pulmonary arterial hypertension, Dyspnea, Abnormal respiratory system physiology, Airway obstruct... |
ORPHA:99106 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis |
ORPHA:896 |
Hyperekplexia 3 |
|
Respiratory arrest, Apnea |
OMIM:614618 |
Ethylene Glycol Poisoning |
|
Alcoholism, Tachypnea, Episodic respiratory distress, Cyanosis, Abnormal pattern of respiration |
ORPHA:31826 |
Ethylmalonic Encephalopathy |
|
Petechiae, Acrocyanosis |
ORPHA:51188 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Apnea |
OMIM:612949 |
Double Outlet Right Ventricle |
|
Cyanosis, Tachypnea |
ORPHA:3426 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pulmonary arterial hypertension, Dyspnea, Airway obstruction, Breathing dysregulation, Pneumonia,... |
ORPHA:99103 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Lateral ventricle dilatation, Ventriculomegaly, Dysphagia, Cerebellar atrophy, Dilated fourth ven... |
ORPHA:572798 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Respiratory insufficiency, Death in infancy, Apnea, Respiratory failure, Cyanosis, Cerebellar atr... |
OMIM:252010 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly, Chiari malformation, Apnea |
ORPHA:2462 |
Developmental And Epileptic Encephalopathy 101 |
|
Apnea |
OMIM:619814 |
Spinocerebellar Ataxia 2 |
|
Dysphagia, Olivopontocerebellar atrophy, Dilated fourth ventricle, Cerebellar atrophy |
OMIM:183090 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
Joubert Syndrome 5 |
|
Thickened superior cerebellar peduncle, Agenesis of cerebellar vermis, Neonatal breathing dysregu... |
OMIM:610188 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Acrocyanosis |
ORPHA:1867 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Death in infancy, Partial agenesis of the corpus callosum |
OMIM:617478 |
Myotonia, Potassium-Aggravated |
|
Stridor, Apneic episodes in infancy |
OMIM:608390 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Dyspnea, Pneumonia, Increased pulmonary vascular resistance, Cya... |
ORPHA:99104 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Respiratory insufficiency, Apnea |
OMIM:614462 |
Biotinidase Deficiency |
|
Respiratory distress, Myelopathy, Apnea, Hyperventilation |
ORPHA:79241 |
Mosaic Variegated Aneuploidy Syndrome |
|
Holoprosencephaly, Ventriculomegaly, Apnea, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker ma... |
ORPHA:1052 |
Myasthenia Gravis |
|
Dysphagia, Dyspnea, Acrocyanosis |
ORPHA:589 |
Alternating Hemiplegia Of Childhood |
|
Aspiration, Apnea, Respiratory distress, Dysphagia, Oral-pharyngeal dysphagia, Flushing, Impulsivity |
ORPHA:2131 |
Biotinidase Deficiency |
|
Diffuse cerebellar atrophy, Tachypnea, Apnea |
OMIM:253260 |
Machado-Joseph Disease |
|
Dysphagia, Dilated fourth ventricle, Cerebellar atrophy |
OMIM:109150 |
Spinocerebellar Ataxia 1 |
|
Dysphagia, Olivopontocerebellar atrophy, Dilated fourth ventricle, Spinocerebellar atrophy |
OMIM:164400 |
Bilateral Perisylvian Polymicrogyria |
|
Aspiration, Cerebellar dysplasia, Pseudobulbar paralysis, Apnea, Dysphagia, Ectopic posterior pit... |
ORPHA:98889 |
Osteopathia Striata With Cranial Sclerosis |
|
Tracheomalacia, Partial agenesis of the corpus callosum, Hydrocephalus, Apnea, Spina bifida occulta |
OMIM:300373 |
Hyperekplexia 1 |
|
Aspiration, Apnea |
OMIM:149400 |
Tarp Syndrome |
|
Cyanosis, Cerebellar hypoplasia, Apnea |
ORPHA:2886 |
Machado-Joseph Disease Type 1 |
|
Dysphagia, Cerebellar atrophy, Dilated fourth ventricle |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Dysphagia, Cerebellar atrophy, Dilated fourth ventricle |
ORPHA:276241 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Purpura, Erythema, Acrocyanosis |
ORPHA:343 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Apnea |
ORPHA:1129 |
Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Death in infancy, Apnea, Dysphagia, P... |
OMIM:601559 |
Unilateral Polymicrogyria |
|
Cyanosis, Epistaxis, Pseudobulbar paralysis, Apnea |
ORPHA:268943 |
Acquired Purpura Fulminans |
|
Macular purpura, Acrocyanosis |
ORPHA:49566 |
Heterotaxy, Visceral, 1, X-Linked |
|
Myelomeningocele, Hydrocephalus, Aqueductal stenosis, Respiratory distress, Cerebellar hypoplasia... |
OMIM:306955 |
Rett Syndrome |
|
Intermittent hyperventilation, Apnea |
OMIM:312750 |
Congenital Left Ventricular Aneurysm |
|
Apnea |
ORPHA:1055 |
Glass Syndrome |
|
Hyperactivity, Restlessness, Apnea |
OMIM:612313 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Obstructive sleep apnea, Rhombencephalosynapsis, Cerebellar hypoplasia, Dilated fourth ventricle,... |
OMIM:619306 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Neonatal respiratory distress, Aspiration, Erythema, Apnea, Stridor |
OMIM:614653 |
Arima Syndrome |
|
Dyspnea, Agenesis of cerebellar vermis, Occipital meningocele, Polydipsia, Tachypnea, Dilated fou... |
OMIM:243910 |
Absence Of The Pulmonary Artery |
|
Pulmonary arterial hypertension, Dyspnea, Recurrent pneumonia, Bronchiectasis, Hypocapnia, Nonpro... |
ORPHA:980 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Bruising susceptibility, Hydrocephalus, Chronic rhinitis, Apnea |
ORPHA:667 |
Machado-Joseph Disease Type 3 |
|
Dysphagia, Cerebellar atrophy, Dilated fourth ventricle |
ORPHA:276244 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Death in childhood, Olivopontocerebellar hypoplasia, Death in infancy, Dilated fourth ventricle, ... |
OMIM:212065 |
Bohring-Opitz Syndrome |
|
Ventriculomegaly, Apnea, Obstructive sleep apnea, Agenesis of corpus callosum, Dandy-Walker malfo... |
ORPHA:97297 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Polyphagia, Ventriculomegaly, Obstructive sleep apnea, Central apnea, Bulimia |
ORPHA:98754 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Aspiration pneumonia, Hypopnea, Restrictive ventilatory defect, Hypoventilation, Apnea, Dysphagia |
OMIM:619482 |
Semilobar Holoprosencephaly |
|
Aspiration pneumonia, Hydrocephalus, Attention deficit hyperactivity disorder, Chronic lung disea... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Aspiration pneumonia, Hydrocephalus, Attention deficit hyperactivity disorder, Chronic lung disea... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Aspiration pneumonia, Hydrocephalus, Attention deficit hyperactivity disorder, Chronic lung disea... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Aspiration pneumonia, Hydrocephalus, Attention deficit hyperactivity disorder, Chronic lung disea... |
ORPHA:93924 |
Illum Syndrome |
|
Apnea |
OMIM:208155 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary arterial hypertension, Dyspnea, Reduced FEV1/FVC ratio, Lip telangiectasia, Conjunctiva... |
OMIM:187300 |
Rare Circulatory System Disease |
|
Cyanosis |
ORPHA:98028 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Polyphagia, Ventriculomegaly, Obstructive sleep apnea, Central apnea, Bulimia |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Polyphagia, Ventriculomegaly, Obstructive sleep apnea, Central apnea, Bulimia |
ORPHA:177904 |
Genitopatellar Syndrome |
|
Agenesis of corpus callosum, Apnea |
ORPHA:85201 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Polyphagia, Ventriculomegaly, Obstructive sleep apnea, Central apnea, Bulimia |
ORPHA:177901 |
Orofaciodigital Syndrome Type 6 |
|
Episodic tachypnea, Cerebellar vermis hypoplasia, Apnea |
ORPHA:2754 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Apnea |
OMIM:210200 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea |
ORPHA:79330 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Sudden episodic apnea, Neuromuscular dysphagia |
ORPHA:466722 |
Congenital Tracheal Stenosis |
|
Dyspnea, Upper airway obstruction, Respiratory distress, Neonatal asphyxia, Cyanosis, Wheezing |
ORPHA:141127 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Jaundice, Tachypnea, Apnea |
ORPHA:20 |
Campomelic Dysplasia |
|
Neonatal respiratory distress, Tracheomalacia, Spinal dysraphism, Hydrocephalus, Spina bifida, Ap... |
OMIM:114290 |
Prader-Willi-Like Syndrome |
|
Polyphagia, Ventriculomegaly, Obstructive sleep apnea, Central apnea, Bulimia |
ORPHA:398073 |
15Q11.2 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Dilated fourth ventricle |
ORPHA:261183 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polyphagia, Cardiorespiratory arrest, Hypoventilation, Central hypoventilation, Obstructive sleep... |
ORPHA:293987 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dyspnea, Hyperventilation, Apnea, Dysphagia, Episodic respiratory distress |
ORPHA:255210 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Hypoplasia of the pons, Intermittent hyperventilation, Dilated fourth ventricle, Cerebellar hypop... |
OMIM:300749 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Restrictive ventilatory defect, Respiratory insufficiency due to... |
ORPHA:2905 |
Zaki Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia |
OMIM:619648 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Apnea |
ORPHA:79644 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
Ogden Syndrome |
|
Aspiration, Pulmonary arterial hypertension, Jaundice, Restrictive ventilatory defect, Minimal su... |
OMIM:300855 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Apnea, Hyperventilation |
OMIM:617799 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Cardiorespiratory arrest, Apnea |
OMIM:608643 |
Xp21 Deletion Syndrome |
|
Agenesis of corpus callosum, Apneic episodes in infancy |
ORPHA:261476 |
Necrotizing Enterocolitis |
|
Apnea |
ORPHA:391673 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Neonatal respiratory distress, Respiratory failure requiring assisted ventilation, Central apnea,... |
ORPHA:79345 |
Fucosidosis |
|
Vascular skin abnormality, Acrocyanosis |
ORPHA:349 |
Chronic Bilirubin Encephalopathy |
|
Central apnea, Prolonged neonatal jaundice |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Central apnea, Prolonged neonatal jaundice |
ORPHA:529799 |
Schwartz-Jampel Syndrome |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Attention deficit hyperactivity disor... |
ORPHA:800 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Lip telangiectasia, Dyspnea, Tongue telangiectasia, Nasal mucosa telangiectasia, Palate telangiec... |
OMIM:610655 |
Hermansky-Pudlak Syndrome 10 |
|
Apnea |
OMIM:617050 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Pulmonary arterial hypertension, Dyspnea, Lip telangiectasia, Fingerpad telangiectases, Facial te... |
OMIM:600376 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Exertional dyspnea, Tachypnea |
ORPHA:2299 |
Slc39A8-Cdg |
|
Sudden episodic apnea, Cerebellar atrophy, Ventriculomegaly |
ORPHA:468699 |
Goodpasture Syndrome |
|
Increased DLCO, Restrictive ventilatory defect, Cough, Tachypnea, Cyanosis, Crackles, Exertional ... |
OMIM:233450 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased sensitivity to hypoxemia, Acrocyanosis |
OMIM:223900 |
Meckel Syndrome, Type 1 |
|
Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation, Ventriculomegaly, Anencephaly,... |
OMIM:249000 |
Pitt-Hopkins Syndrome |
|
Sleep apnea, Abnormal pattern of respiration, Acrocyanosis, Hyperventilation |
ORPHA:2896 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Aicardi-Goutières Syndrome |
|
Prolonged neonatal jaundice, Ventriculomegaly, Cutis marmorata, Arrhinencephaly, Acrocyanosis |
ORPHA:51 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea |
ORPHA:99050 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea |
ORPHA:17 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
Eisenmenger Syndrome |
|
Pulmonary arterial hypertension, Hypoxemia, Respiratory distress, Increased pulmonary vascular re... |
ORPHA:97214 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Neonatal respiratory distress, Aspiration, Erythema, Facial erythema, Apnea, Dysphagia, Ventricul... |
OMIM:619503 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Sleep apnea, Central apnea, Hyperventilation |
ORPHA:522077 |
Hutchinson-Gilford Progeria Syndrome |
|
Pulmonary arterial hypertension, Upper airway obstruction, Premature skin wrinkling, Cyanosis, Ge... |
ORPHA:740 |
Wolfram Syndrome |
|
Respiratory insufficiency, Polydipsia, Central apnea |
ORPHA:3463 |
Orofaciodigital Syndrome Type 14 |
|
Partial agenesis of the corpus callosum, Dilated fourth ventricle, Sleep apnea, Dandy-Walker malf... |
ORPHA:434179 |
Dermatomyositis |
|
Pulmonary arterial hypertension, Erythema, Respiratory insufficiency, Telangiectasia of the skin,... |
ORPHA:221 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Aspiration pneumonia, Central sleep apnea, Hypoventilation, Apnea, Dysphagia, Obstructive sleep a... |
ORPHA:438213 |
Familial Dysautonomia |
|
Acrocyanosis |
ORPHA:1764 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Lateral ventricle dilatation |
OMIM:619869 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Pulmonary arterial hypertension, Respiratory distress, Paroxysmal dyspnea, Respiratory failure re... |
ORPHA:99125 |
Postinfectious Vasculitis |
|
Palpable purpura, Pneumonia, Vasculitis in the skin, Cutis marmorata, Acrocyanosis |
ORPHA:48435 |
Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Acrocyanosis |
OMIM:259900 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Asthma, Apnea |
ORPHA:3206 |
Truncus Arteriosus |
|
Cyanosis, Tachypnea |
ORPHA:3384 |
Coffin-Lowry Syndrome |
|
Cutis marmorata, Acrocyanosis, Ventriculomegaly |
OMIM:303600 |
Hypermobile Ehlers-Danlos Syndrome |
|
Acrocyanosis, Apnea |
ORPHA:285 |
Primary Hyperoxaluria |
|
Cutis marmorata, Acrocyanosis |
ORPHA:416 |
Diethylstilbestrol Syndrome |
|
Central apnea |
ORPHA:1916 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Dandy-Walker malformation, Ventriculomegaly, Respiratory distress, Aplasia/Hypoplasia of the cere... |
ORPHA:480880 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Tachypnea |
ORPHA:2751 |
Classical Ehlers-Danlos Syndrome |
|
Poor wound healing, Bruising susceptibility, Ecchymosis, Prematurely aged appearance, Acrocyanosi... |
ORPHA:287 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cyanosis, Pulmonary arterial hypertension |
ORPHA:51608 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
Pallister-Killian Syndrome |
|
Ventriculomegaly, Apneic episodes in infancy, Stillbirth, Hyperventilation |
OMIM:601803 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
|
OMIM:618646 |