Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy, Cerebellar vermis hypoplasia, Apnea |
OMIM:610992 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe... |
OMIM:220200 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory insufficiency, Respiratory failure, Ventriculomegaly |
OMIM:611722 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, Cerebellar hypoplasia |
OMIM:615228 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Perching Syndrome |
|
Respiratory distress, Cyanosis, Dysphagia |
OMIM:617055 |
Chiari Malformation Type Ii |
|
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation... |
OMIM:207950 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Tachypnea, Apnea, Cerebellar dysplasia |
OMIM:616490 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Episodic tachypnea... |
ORPHA:163961 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Pontocerebellar Hypoplasia Type 2 |
|
Cerebellar vermis hypoplasia, Apnea, Oral-pharyngeal dysphagia, Dysplastic corpus callosum, Hypop... |
ORPHA:2524 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Neonatal respiratory distress, Apnea, Respiratory failure, Cerebellar hypopla... |
ORPHA:168486 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Anorexia, Nonproductive cough, ... |
ORPHA:1302 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Dandy-Walker malformation, Apnea, Tachypnea, Superior cerebellar dysplasia, V... |
OMIM:617622 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow ... |
ORPHA:2004 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Myoclonus, Intractable, Neonatal |
|
Impaired oral bolus formation, Apnea, Dandy-Walker malformation, Dysphagia |
OMIM:617235 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Apneic episodes in infancy, Agenesis of corpus callosum |
OMIM:619111 |
Pontocerebellar Hypoplasia Type 4 |
|
Central apnea, Respiratory failure requiring assisted ventilation, Olivopontocerebellar hypoplasia |
ORPHA:166063 |
Joubert Syndrome 9 |
|
Encephalocele, Apnea, Episodic tachypnea, Ventriculomegaly |
OMIM:612285 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
Pontocerebellar Hypoplasia, Type 16 |
|
Apnea, Hypoplasia of the pons, Cerebellar hypoplasia, Dysphagia, Ventriculomegaly |
OMIM:619527 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... |
OMIM:265120 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Apnea, Erythema, Lateral ventricle dilatation, Neonatal death |
OMIM:610015 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Ventriculomegaly, Apnea, Respiratory insufficiency |
OMIM:617290 |
Sudden Infant Death Syndrome |
|
Apneic episodes in infancy |
OMIM:272120 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough |
OMIM:263000 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Pontocerebellar Hypoplasia, Type 6 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Apnea, Cerebellar hypoplasia, Death in childhood |
OMIM:611523 |
Ravine Syndrome |
|
Apnea, Anorexia |
ORPHA:99852 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Ventriculomegaly, Apnea, Respiratory insufficiency |
OMIM:618228 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Cyanosis, Apnea, Impulsivity, Aggressive behavior, Tongue thrusting, Attentio... |
OMIM:619580 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Agitation, Bruxism, Recurrent hand flapping, Ventriculomegaly, Hyperventilation |
OMIM:617903 |
Joubert Syndrome 3 |
|
Central apnea, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Episodic tachypnea... |
OMIM:608629 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Cerebellar atrophy, Apnea, Respiratory insufficiency, Dysphagia |
OMIM:618226 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Dysphagia |
OMIM:150260 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Cerebellar vermis hypoplasia, Respiratory insufficiency due to muscle weakness, Re... |
OMIM:618291 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... |
ORPHA:2302 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... |
ORPHA:2257 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Apneic episodes in infancy, Stereotypical hand wringing |
ORPHA:500545 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Cerebellar hypoplasia, Aspiration pneumonia, Dy... |
OMIM:618253 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cerebellar atrophy, Apnea, Ventriculomegaly |
OMIM:619797 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Apnea, Episodic tachypnea, Aspiration pneumonia, Dysphagia, Abnormal repetiti... |
ORPHA:79264 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Agenesis of corpus callosum, Ventriculomegaly, Apneic episodes precipitated ... |
OMIM:312170 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Apnea, Respiratory insufficiency |
ORPHA:209370 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Apnea, Hydrocephalus, Agenesis of corpus callosum, A... |
ORPHA:220497 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Cyanosis, Exertional dyspnea |
ORPHA:621 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Apnea, Respiratory insufficiency, Dysphagia |
OMIM:618198 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Lateral ventricle dilatation, Apnea, Inspiratory stridor |
OMIM:600721 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Central apnea, Cerebellar atrophy |
ORPHA:320385 |
Choanal Atresia |
|
Respiratory distress, Cyanosis, Upper airway obstruction, Choking episodes, Tracheomalacia, Chron... |
ORPHA:137914 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia |
OMIM:615771 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... |
OMIM:610910 |
Myasthenic Syndrome, Congenital, 16 |
|
Apnea |
OMIM:614198 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Apnea, Death in childhood |
OMIM:618225 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Death in infancy, Apnea |
OMIM:618235 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Cerebellar atrophy, Apnea |
ORPHA:79097 |
Developmental And Epileptic Encephalopathy 99 |
|
Central apnea, Cerebellar atrophy, Ventriculomegaly |
OMIM:619606 |
Developmental And Epileptic Encephalopathy 61 |
|
Apnea |
OMIM:617933 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Apnea, Hydrocephalus, Agenesis of corpus callosum, A... |
ORPHA:220493 |
Atypical Rett Syndrome |
|
Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Tongue thrusting, Agitation, Ina... |
ORPHA:3095 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Dandy-Walker malformation, Cerebellar vermis hypoplasia, Apnea, Ventricu... |
ORPHA:397715 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
48,Xxyy Syndrome |
|
Apnea, Asthma, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Ventricu... |
ORPHA:10 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Apneic episodes in infancy, Cerebellar hy... |
ORPHA:3078 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Red... |
OMIM:610913 |
Joubert Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Apnea, Episodic tachypnea, Hydrocephalus, Abnormal p... |
ORPHA:475 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Apnea |
OMIM:618236 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Hydrocephalus, Partial absence of cerebe... |
OMIM:220220 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Nemaline Myopathy 2 |
|
Respiratory insufficiency due to muscle weakness, Apnea, Dysphagia |
OMIM:256030 |
Joubert Syndrome 7 |
|
Central apnea, Encephalocele, Episodic tachypnea, Tachypnea, Neonatal breathing dysregulation |
OMIM:611560 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation, Dysphagia |
OMIM:618233 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Apnea, Hydrocephalus, Tachypnea |
ORPHA:2318 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Apnea, Hypercapnia, Respiratory insufficiency, Apneic episodes in infancy, Ventriculomegaly |
OMIM:618222 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
2Q24 Microdeletion Syndrome |
|
Central apnea |
ORPHA:1617 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Recurrent pneumonia, Later... |
OMIM:617751 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Aggressive behavior, Dysplastic corpus callosum, Lateral ventricle dilatation, Dysphagi... |
ORPHA:488627 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Cyanotic episode |
ORPHA:284417 |
Pontocerebellar Hypoplasia, Type 7 |
|
Apnea, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:614969 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Cerebellar atrophy, Neonatal respiratory distress, Cyanosis, Apnea, Death i... |
OMIM:618426 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Ventricul... |
OMIM:613443 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Olivopon... |
ORPHA:370959 |
Tenorio Syndrome |
|
Hydrocephalus, Recurrent pneumonia, Apnea, Ventriculomegaly |
OMIM:616260 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea |
OMIM:619048 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Central apnea, Cerebellar atrophy, Aggressive behavior, Compulsive behaviors, Dysphagia, Olivopon... |
OMIM:615157 |
Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... |
ORPHA:79126 |
Neurological Conditions Associated With Aminoacylase 1 Deficiency |
|
Apnea, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:137754 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Apnea, Cerebellar hypoplasia, Respiratory insufficiency |
OMIM:618886 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Hydrocephalus, Respiratory failure, Neonatal death, Palmopla... |
OMIM:616482 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... |
ORPHA:95430 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Apnea, Central hypoventilation, Respiratory insufficiency |
OMIM:300673 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia |
ORPHA:464453 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Dysphagia, Neonatal death, Resp... |
OMIM:617248 |
Benign Familial Neonatal-Infantile Seizures |
|
Apnea |
ORPHA:140927 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Joubert Syndrome 1 |
|
Central apnea, Enlarged fossa interpeduncularis, Hyperactivity, Cerebellar vermis hypoplasia, Age... |
OMIM:213300 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Neonatal death, Death in infancy, Apnea, Central hypoventilation |
OMIM:620167 |
Joubert Syndrome 2 |
|
Central apnea, Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Ep... |
OMIM:608091 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Ventriculomegaly, Apnea, Dysphagia, Neonatal death, Petechiae, Purpura |
OMIM:608013 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Stridor, Hypoventilation, Apnea, Dysphagia |
OMIM:617143 |
Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Hydrocephalus, Cerebellar hypoplasia, Pulmonary arterial hyperten... |
ORPHA:3309 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Jaundice, Apnea, Respiratory insufficiency, Aggressive behavior |
OMIM:608093 |
Joubert Syndrome 33 |
|
Apnea |
OMIM:617767 |
Congenital Myopathy 11 |
|
Neonatal respiratory distress, Apneic episodes in infancy |
OMIM:619967 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Hyperactivity, Impulsivity, Cerebellar gliosis, Apneic episodes in infancy, A... |
ORPHA:35069 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea |
OMIM:615031 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:98914 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO |
ORPHA:747 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea, Ventriculomegaly, Dysphagia |
OMIM:617301 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pattern of respiration |
OMIM:608800 |
Hypophosphatasia, Infantile |
|
Death in infancy, Stillbirth, Apnea, Anorexia |
OMIM:241500 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Myotonia Fluctuans |
|
Stridor, Apnea, Choking episodes |
ORPHA:99734 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Death in infancy, Apnea |
OMIM:614498 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Abnormal cerebellum morphology, Agitation, Apnea |
OMIM:618056 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Inferior cerebellar vermis hypoplasia, Dilated fourth ventricle, Retrocerebel... |
OMIM:614831 |
Leukodystrophy, Hypomyelinating, 4 |
|
Apnea |
OMIM:612233 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... |
OMIM:608836 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Apnea, Bruxism |
OMIM:300055 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Apnea, Hydrocephalus, Aplasia/Hypoplasia o... |
ORPHA:1454 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Hydrocephalus, Pleural effusion |
OMIM:261740 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis atrophy |
OMIM:213200 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea, Cyanosis |
ORPHA:444013 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Cerebellar vermis atrophy |
OMIM:619054 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Apnea, Ventriculomegaly |
ORPHA:395 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Apnea |
OMIM:614883 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Partial agene... |
ORPHA:171680 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia |
OMIM:615960 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Breathi... |
OMIM:610688 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Respiratory failure, Dysphagia, Elongated... |
OMIM:615636 |
Congenital Heart Block |
|
Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
Orofaciodigital Syndrome Xvi |
|
Apnea, Ventriculomegaly |
OMIM:617563 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Inferior ... |
ORPHA:370022 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Cyanosis, Paroxysmal bursts of laughter, Dysphagia |
ORPHA:391428 |
Joubert Syndrome 5 |
|
Central apnea, Occipital encephalocele, Agenesis of cerebellar vermis, Episodic tachypnea, Aggres... |
OMIM:610188 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Apnea |
OMIM:616896 |
Rett Syndrome |
|
Apnea, Bruxism, Stereotypical hand wringing, Intermittent hyperventilation |
OMIM:312750 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... |
ORPHA:199241 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy |
OMIM:610006 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation |
OMIM:209880 |
Propionic Acidemia |
|
Tachypnea, Apnea |
OMIM:606054 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Progeroid facial appearance, Dysplastic c... |
ORPHA:357058 |
Plaa-Associated Neurodevelopmental Disorder |
|
Apnea, Respiratory insufficiency, Impaired oropharyngeal swallow response, Ventriculomegaly, Cere... |
ORPHA:521426 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Death in infancy, Agenesis of cerebellar vermis, Apnea, Cere... |
OMIM:609069 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Dandy-Walk... |
OMIM:614175 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... |
ORPHA:2038 |
Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea |
OMIM:314580 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Gaucher Disease, Type Ii |
|
Death in infancy, Apnea, Cough, Stridor, Dysphagia, Recurrent aspiration pneumonia |
OMIM:230900 |
Kcnq2-Related Epileptic Encephalopathy |
|
Apnea, Facial erythema |
ORPHA:439218 |
Developmental And Epileptic Encephalopathy 90 |
|
Apneic episodes in infancy |
OMIM:301058 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Fatal Familial Insomnia |
|
Apnea, Dysphagia |
OMIM:600072 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Apnea, Hyperventilation |
OMIM:229700 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency |
OMIM:617239 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Mucopolysaccharidosis Type 1 |
|
Hydrocephalus, Sinusitis, Apnea, Cough |
ORPHA:579 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Ventriculomegaly, Apnea, Respiratory insufficiency, Dysphagia |
OMIM:617527 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Jaundice, Apnea, Death in childhood |
OMIM:214110 |
Hyperekplexia 3 |
|
Respiratory arrest, Apnea |
OMIM:614618 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Apnea |
OMIM:612949 |
Marshall-Smith Syndrome |
|
Apnea, Hydrocephalus, Stridor, Agenesis of corpus callosum, Cerebellar hypoplasia, Aspiration pne... |
OMIM:602535 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivit... |
ORPHA:2131 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Cerebellar hypoplasia |
OMIM:614407 |
Developmental And Epileptic Encephalopathy 101 |
|
Apnea |
OMIM:619814 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Hydrocephalus, Tachypnea, Cough, Cerebellar malformation, Agenesis of corpus callosum |
ORPHA:137675 |
Dravet Syndrome |
|
Obsessive-compulsive trait, Cyanotic episode, Impulsivity |
ORPHA:33069 |
Auriculocondylar Syndrome 1 |
|
Apnea |
OMIM:602483 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Holoprosencephaly |
OMIM:619879 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Chiari malformation, Apnea, Ventriculomegaly |
ORPHA:2462 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Apnea, Respiratory insufficiency |
OMIM:614462 |
Glass Syndrome |
|
Restlessness, Hyperactivity, Apnea, Aggressive behavior, Frequent temper tantrums |
OMIM:612313 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory fai... |
OMIM:252010 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Jaundice, Abnormal respiratory ... |
ORPHA:90051 |
Myotonia, Potassium-Aggravated |
|
Stridor, Apneic episodes in infancy |
OMIM:608390 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:60025 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Dilated fourth ventricle, Cerebellar hypoplasia |
OMIM:620208 |
Mosaic Variegated Aneuploidy Syndrome |
|
Apnea, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker malformation, Ventri... |
ORPHA:1052 |
Bilateral Perisylvian Polymicrogyria |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Apnea, Pseudobulbar paralysis, Dysphag... |
ORPHA:98889 |
Biotinidase Deficiency |
|
Respiratory distress, Myelopathy, Apnea, Hyperventilation |
ORPHA:79241 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis atrophy |
ORPHA:1170 |
Aicardi-Goutieres Syndrome 1 |
|
Cerebellar calcifications, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilation, ... |
OMIM:225750 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Biotinidase Deficiency |
|
Diffuse cerebellar atrophy, Tachypnea, Apnea |
OMIM:253260 |
Hyperekplexia 1 |
|
Aspiration, Apnea |
OMIM:149400 |
Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Hydrocephalus, Partial agenesis of the corpus callosum, Tracheomalacia, Spina bifida occulta |
OMIM:300373 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central apnea, Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessiv... |
ORPHA:98793 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Apnea |
ORPHA:1129 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central apnea, Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessiv... |
ORPHA:177904 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central apnea, Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessiv... |
ORPHA:177901 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Tachypnea, Cyanosis |
ORPHA:860 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Apnea, Aggressive behavior, Bruxism, Hyperventilation |
OMIM:617799 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Apnea, Respiratory insufficiency, Dysphagia, Pulmonary arterial hypertension, P... |
OMIM:601559 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Jaundice, Tachypnea, Apnea, Anorexia |
ORPHA:20 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central apnea, Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Polyphag... |
ORPHA:98754 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Congenital Left Ventricular Aneurysm |
|
Apnea |
ORPHA:1055 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Tongue thrusting, Apnea, Cardiorespiratory arrest |
OMIM:608643 |
Tarp Syndrome |
|
Cyanosis, Apnea, Cerebellar hypoplasia |
ORPHA:2886 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Dilated fourth ventricle |
ORPHA:251347 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:555874 |
Illum Syndrome |
|
Apnea |
OMIM:208155 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Neonatal respiratory distress, Apnea, Erythema, Stridor, Aspiration |
OMIM:614653 |
Unilateral Polymicrogyria |
|
Pseudobulbar paralysis, Cyanosis, Apnea, Epistaxis |
ORPHA:268943 |
Autosomal Recessive Malignant Osteopetrosis |
|
Apnea, Hydrocephalus, Chronic rhinitis, Pulmonary arterial hypertension, Bruising susceptibility |
ORPHA:667 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aggressive behavior, ... |
ORPHA:572798 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia, Dysphagia |
OMIM:619482 |
Semilobar Holoprosencephaly |
|
Central apnea, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Dysphagia, Attention defi... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Dysphagia, Attention defi... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Dysphagia, Attention defi... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Dysphagia, Attention defi... |
ORPHA:93924 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Apnea |
OMIM:210200 |
Genitopatellar Syndrome |
|
Agenesis of corpus callosum, Apnea |
ORPHA:85201 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Dysphagia, Urticaria, Cough, Acroc... |
ORPHA:183 |
Esophageal Atresia |
|
Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Res... |
ORPHA:1199 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Apnea, Episodic tachypnea |
ORPHA:2754 |
Ethylene Glycol Poisoning |
|
Cyanosis, Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal pattern of re... |
ORPHA:31826 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... |
ORPHA:99106 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis |
ORPHA:896 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea |
ORPHA:79330 |
Bohring-Opitz Syndrome |
|
Agenesis of corpus callosum, Ventriculomegaly, Apnea, Dandy-Walker malformation |
ORPHA:97297 |
Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Neuromuscular dysphagia, Sudden episodic apnea |
ORPHA:466722 |
Double Outlet Right Ventricle |
|
Tachypnea, Cyanosis |
ORPHA:3426 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Hydrocephalus, Spinal d... |
OMIM:114290 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Dyspnea, Episodic respiratory distress, Dysphagia, Hyperventilation |
ORPHA:255210 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Apnea |
ORPHA:79644 |
Spinocerebellar Ataxia 2 |
|
Cerebellar atrophy, Olivopontocerebellar atrophy, Dilated fourth ventricle, Dysphagia |
OMIM:183090 |
Ogden Syndrome |
|
Apnea, Prematurely aged appearance, Facial wrinkling, Jaundice, Pulmonary arterial hypertension, ... |
OMIM:300855 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
Necrotizing Enterocolitis |
|
Apnea |
ORPHA:391673 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Xp21 Deletion Syndrome |
|
Apneic episodes in infancy, Agenesis of corpus callosum |
ORPHA:261476 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... |
ORPHA:99104 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Partial agenesis of the corpus callosum, Cyanosis |
OMIM:617478 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis, Dysphagia |
ORPHA:589 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Dilated fourth ventricle, Dysphagia |
OMIM:109150 |
Spinocerebellar Ataxia 1 |
|
Spinocerebellar atrophy, Olivopontocerebellar atrophy, Dilated fourth ventricle, Dysphagia |
OMIM:164400 |
Chronic Bilirubin Encephalopathy |
|
Central apnea, Prolonged neonatal jaundice |
ORPHA:529808 |
Schwartz-Jampel Syndrome |
|
Death in infancy, Apnea, Respiratory insufficiency, Attention deficit hyperactivity disorder, Pul... |
ORPHA:800 |
Acute Bilirubin Encephalopathy |
|
Central apnea, Prolonged neonatal jaundice |
ORPHA:529799 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Repetitive compulsive behavior, Self-biting, Abnormal repetitive mannerisms, Self-... |
ORPHA:522077 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cyanosis, Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Cerebellar ... |
OMIM:306955 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
Hermansky-Pudlak Syndrome 10 |
|
Apnea |
OMIM:617050 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Dilated fourth ventricle, Dysphagia |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Dysphagia |
ORPHA:276241 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea, Aggressive behavior |
ORPHA:17 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle, Self-injurious behavior, Attention deficit hyperactivity disorder |
ORPHA:261183 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Aggressive behavior, Asthma, Cardiorespirator... |
ORPHA:293987 |
Slc39A8-Cdg |
|
Cerebellar atrophy, Sudden episodic apnea, Ventriculomegaly |
ORPHA:468699 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... |
ORPHA:980 |
Arima Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Dyspnea, T... |
OMIM:243910 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Respiratory insuf... |
OMIM:615574 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Dilated fourth ventricle, Death in infancy, Cerebellar vermis hypoplasia, Oli... |
OMIM:212065 |
Machado-Joseph Disease Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Dysphagia |
ORPHA:276244 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... |
OMIM:187300 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia |
OMIM:601374 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction |
ORPHA:141127 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Neonatal respiratory distress, Apnea, Impulsivity, Asthma, E... |
OMIM:619503 |
Zaki Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia |
OMIM:619648 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Intermittent hyperventilation, Dilated fourth vent... |
OMIM:300749 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... |
ORPHA:2905 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
Pitt-Hopkins Syndrome |
|
Aggressive behavior, Self-injurious behavior, Acrocyanosis, Abnormal pattern of respiration, Hype... |
ORPHA:2896 |
Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
Wolfram Syndrome |
|
Central apnea, Polydipsia, Respiratory insufficiency |
ORPHA:3463 |
Double Outlet Left Ventricle |
|
Tachypnea, Cyanosis |
ORPHA:3427 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... |
OMIM:610655 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Rhombencephalosynapsis, Cerebellar vermis hypoplasia, Cerebellar hypopl... |
OMIM:619306 |
Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Cyanosis, Exertional dyspnea |
ORPHA:2299 |
Goodpasture Syndrome |
|
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... |
OMIM:233450 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Acrocyanosis, Decreased sensitivity to hypoxemia |
OMIM:223900 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephaly, ... |
OMIM:249000 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Breathing dysregulation, Aspiration pneumonia, Dysphagia, Stereotypical h... |
ORPHA:438213 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea |
ORPHA:99050 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
Orofaciodigital Syndrome Type 2 |
|
Tachypnea, Apnea |
ORPHA:2751 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Asthma, Apnea |
ORPHA:3206 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... |
ORPHA:97214 |
Hypermobile Ehlers-Danlos Syndrome |
|
Acrocyanosis, Apnea |
ORPHA:285 |
Diethylstilbestrol Syndrome |
|
Central apnea |
ORPHA:1916 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... |
ORPHA:740 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Vasculitis in the skin, Acrocyanosis |
ORPHA:48435 |
Dermatomyositis |
|
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial... |
ORPHA:221 |
Aicardi-Goutières Syndrome |
|
Acrocyanosis, Cutis marmorata, Ventriculomegaly, Prolonged neonatal jaundice |
ORPHA:51 |
Familial Dysautonomia |
|
Acrocyanosis |
ORPHA:1764 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... |
ORPHA:99125 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Cerebellar vermis hypoplasia |
OMIM:619869 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Truncus Arteriosus |
|
Tachypnea, Cyanosis |
ORPHA:3384 |
Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Dilated third ventricle, Dandy... |
ORPHA:434179 |
Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata, Ventriculomegaly |
OMIM:303600 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Dilated fourth ventricle, Ventriculomegaly, Cerebellar vermis hypoplasia, C... |
ORPHA:480880 |
Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... |
ORPHA:287 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Pulmonary arterial hypertension, Cyanosis |
ORPHA:51608 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
Pallister-Killian Syndrome |
|
Stillbirth, Apneic episodes in infancy, Ventriculomegaly, Hyperventilation |
OMIM:601803 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
|
OMIM:618646 |