| Cholesterol Pneumonia |
|
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis |
OMIM:215030 |
| Glaucoma-Sleep Apnea Syndrome |
|
Respiratory insufficiency, Sleep apnea |
ORPHA:2085 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
| Sudden Infant Death Syndrome |
|
Apneic episodes in infancy |
OMIM:272120 |
| Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory failure, Respiratory insufficiency |
OMIM:208081 |
| Apnea, Central Sleep |
|
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration |
OMIM:207720 |
| Cyanosis And Hepatic Disease |
|
Cyanosis, Dyspnea |
OMIM:219400 |
| Glaucoma And Sleep Apnea |
|
Sleep apnea |
OMIM:137763 |
| Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Central hypoventilation, Apnea |
OMIM:619483 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Respiratory insufficiency |
OMIM:611369 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Death in infancy, Apnea |
OMIM:618235 |
| Parana Hard-Skin Syndrome |
|
Respiratory insufficiency |
OMIM:260530 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
|
Respiratory insufficiency |
OMIM:617232 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency |
OMIM:611722 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Apnea, Respiratory insufficiency |
OMIM:618222 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
| Laryngotracheal Angioma |
|
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions |
ORPHA:137935 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... |
DECIPHER:29 |
| Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
| Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Central hypoventilation, Apnea, Respiratory insufficiency |
OMIM:300673 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Central hypoventilation, Apnea |
OMIM:618233 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Tachypnea, Cough, Respiratory distress, Cyanosis, Respiratory failure |
OMIM:263000 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Hypoventilation, Breathing dysregulation |
OMIM:618232 |
| Athabaskan Brainstem Dysgenesis Syndrome |
|
Central hypoventilation |
OMIM:601536 |
| Worster-Drought Syndrome |
|
Abnormal cranial nerve morphology |
ORPHA:3465 |
| Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency |
OMIM:253300 |
| Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Apnea, Respiratory insufficiency |
OMIM:617290 |
| Laryngeal Abductor Paralysis |
|
Respiratory insufficiency |
ORPHA:2808 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
| Lethal Congenital Contracture Syndrome 4 |
|
Respiratory insufficiency |
OMIM:614915 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Facial palsy, Abnormal lower motor neuron morphology |
OMIM:607641 |
| Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Tachypnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions, Reduced for... |
ORPHA:91359 |
| Postpoliomyelitis Syndrome |
|
Hypoventilation, Respiratory insufficiency |
ORPHA:2942 |
| Maple Syrup Urine Disease |
|
Respiratory insufficiency |
ORPHA:511 |
| Bronchopulmonary Dysplasia |
|
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... |
ORPHA:70589 |
| Uveal Melanoma |
|
Mydriasis, Abnormal fundus morphology, Zonular cataract, Iris melanoma, Retinal detachment, Vitre... |
ORPHA:39044 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, Hydrocephalus, Cerebellar hypoplasia, Inferior vermis hypoplasia |
OMIM:304100 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
| X-Linked Complicated Corpus Callosum Dysgenesis |
|
Aganglionic megacolon, Cerebellar hypoplasia |
ORPHA:1497 |
| Larynx Atresia |
|
Respiratory insufficiency |
ORPHA:1202 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Respiratory insufficiency |
OMIM:617892 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Apnea, Respiratory insufficiency |
OMIM:617239 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency |
OMIM:616081 |
| Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Stridor, Cough, Aspiration, Cyanosis, Dyspnea |
ORPHA:2004 |
| Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Respiratory distress |
OMIM:614399 |
| Tracheopathia Osteoplastica |
|
Wheezing, Dyspnea, Recurrent pneumonia, Cough |
OMIM:189961 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Apnea |
OMIM:615228 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Death in infancy, Tachypnea, Neonatal death, Apnea, Pulmonary arte... |
OMIM:265120 |
| Myasthenic Syndrome, Congenital, 18 |
|
Respiratory insufficiency |
OMIM:616330 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
| Congenital Pulmonary Veins Atresia Or Stenosis |
|
Respiratory insufficiency |
ORPHA:3188 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abnormality of enteric ganglion morphology, Enterocolitis |
OMIM:142623 |
| Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
| Aganglionosis, Total Intestinal |
|
Total intestinal aganglionosis |
OMIM:202550 |
| Muscular Dystrophy, Duchenne Type |
|
Respiratory failure, Hypoventilation, Respiratory insufficiency |
OMIM:310200 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... |
ORPHA:266 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Respiratory failure, Nocturnal hypoventilation, Reduced vital capacity |
OMIM:603689 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Cough, Respiratory failure, Dyspnea, Respiratory failure requiring assisted ventilation, Aspirati... |
ORPHA:90117 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Nocturnal hypoventilation |
OMIM:616470 |
| Perry Syndrome |
|
Respiratory arrest, Central hypoventilation, Hypoventilation, Respiratory insufficiency |
OMIM:168605 |
| Myasthenic Syndrome, Congenital, 8 |
|
Respiratory insufficiency |
OMIM:615120 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea |
OMIM:616277 |
| Iatrogenic Botulism |
|
Orthostatic hypotension, Mydriasis, Dyspnea |
ORPHA:254509 |
| Burning Mouth Syndrome |
|
Strawberry tongue, Abnormality of somatosensory evoked potentials, Xerostomia, Abnormal fifth cra... |
ORPHA:353253 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Hypoventilation, Apnea, Stridor |
OMIM:617143 |
| Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy |
OMIM:615348 |
| Myasthenic Syndrome, Congenital, 16 |
|
Apnea |
OMIM:614198 |
| Perry Syndrome |
|
Central hypoventilation |
ORPHA:178509 |
| Cryptogenic Organizing Pneumonia |
|
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Respiratory distress,... |
ORPHA:1302 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency |
OMIM:605711 |
| Leukodystrophy, Hypomyelinating, 4 |
|
Apnea |
OMIM:612233 |
| Acute Zonal Occult Outer Retinopathy |
|
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... |
ORPHA:284454 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
| Intestinal Botulism |
|
Mydriasis, Dyspnea, Respiratory insufficiency due to muscle weakness |
ORPHA:178481 |
| Toxin-Mediated Infectious Botulism |
|
Mydriasis, Dyspnea, Respiratory insufficiency due to muscle weakness |
ORPHA:230800 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... |
OMIM:254210 |
| Pontocerebellar Hypoplasia Type 4 |
|
Central apnea, Respiratory failure requiring assisted ventilation |
ORPHA:166063 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoxemia, Hypercapnia, Apnea, Central hypoventilation, Hypoventilation, Nocturnal hypoventilation |
OMIM:209880 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Joubert Syndrome 33 |
|
Apnea |
OMIM:617767 |
| Ravine Syndrome |
|
Apnea |
ORPHA:99852 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory failure, Neonatal death, Apnea, Respiratory insufficiency |
OMIM:610127 |
| Haddad Syndrome |
|
Central hypoventilation, Death in infancy, Breathing dysregulation, Central sleep apnea |
ORPHA:99803 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy |
OMIM:225753 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:1832 |
| Asbestos Intoxication |
|
Wheezing, Restrictive ventilatory defect, Hypoxemia, Exertional dyspnea, Dyspnea, Cyanosis, Late ... |
ORPHA:2302 |
| Respiratory Underresponsiveness To Hypoxia And Hypercapnia |
|
Respiratory failure, Hypercapnia, Respiratory insufficiency |
OMIM:267480 |
| Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Peripheral axonal neuropathy, High palate, Facial diplegia, Neonatal death, Abnormal anterior hor... |
OMIM:611890 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Stridor, Respiratory insufficiency, Respiratory distress, Nocturnal hypoventilation, Dyspnea |
OMIM:211530 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency |
OMIM:300717 |
| Rigid Spine Muscular Dystrophy 1 |
|
Restrictive ventilatory defect, Nocturnal hypoventilation, Reduced vital capacity |
OMIM:602771 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory failure, Neonatal death, Respiratory insufficiency |
OMIM:228940 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Cyanosis, Respiratory failure, Nasal flaring, Atelectasis |
ORPHA:70587 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Pneumonia, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defect, Dyspnea |
OMIM:610910 |
| Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Jaundice |
ORPHA:890 |
| Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
| Wound Botulism |
|
Mydriasis, Dyspnea, Respiratory insufficiency due to muscle weakness |
ORPHA:178475 |
| Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Bronchiectasis, Re... |
OMIM:618781 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
| Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
| Marcus-Gunn Syndrome |
|
Cleft palate, Abnormal fifth cranial nerve morphology |
ORPHA:91412 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Intestinal pseudo-obstruction, Functional intestinal obstruction, Intestin... |
OMIM:243180 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific interstitial pneumonia, T... |
OMIM:610921 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... |
OMIM:605809 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Respiratory failure, Apnea, Death in infancy |
OMIM:617248 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Optic atrophy, Dysphagia, Cerebellar atrophy, Hypogonadotropic hypogonadism, Abnormal upper motor... |
OMIM:607694 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon |
OMIM:600501 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Respiratory insufficiency |
OMIM:616314 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
| Ganglioneuroma |
|
Central hypoventilation |
ORPHA:251992 |
| Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Neonatal death, Death in infancy, Death in childhood |
OMIM:619334 |
| Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Abnormal cranial nerve morpholog... |
OMIM:605253 |
| Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Acute infecti... |
ORPHA:723 |
| Congenital Pulmonary Airway Malformation |
|
Respiratory insufficiency |
ORPHA:2444 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Respiratory insufficiency |
ORPHA:640 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia |
OMIM:619057 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Chorioretinal coloboma, Iris coloboma |
OMIM:616428 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Aganglionic megacolon |
OMIM:306980 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Stridor, Abnormal pattern of respiration, Apnea, Cardiorespiratory arrest, Bronchospasm |
OMIM:608800 |
| Classic Multiminicore Myopathy |
|
Restrictive ventilatory defect, Intermittent episodes of respiratory insufficiency due to muscle ... |
ORPHA:324604 |
| Congenital Pulmonary Lymphangiectasia |
|
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Respiratory distress, Cyan... |
ORPHA:2414 |
| Spinocerebellar Ataxia, X-Linked 3 |
|
Episodic hypoventilation, Death in infancy, Episodic respiratory distress |
OMIM:301790 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Diffuse axonal swelling, Pallor of dorsal columns of the spinal c... |
OMIM:602433 |
| Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Apnea, Respiratory insufficiency |
OMIM:618198 |
| Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Apneic episodes in infancy |
ORPHA:500545 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Restrictive ventilatory defect, Cough, Respiratory insufficiency, Abnormal pattern of respiration |
ORPHA:724 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
| Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:600333 |
| Myopathy, Myofibrillar, 5 |
|
Respiratory insufficiency |
OMIM:609524 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Apnea, Respiratory insufficiency |
OMIM:614462 |
| Inhalational Botulism |
|
Mydriasis, Dyspnea |
ORPHA:254504 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory insufficiency |
OMIM:618252 |
| Synaptic Congenital Myasthenic Syndromes |
|
Neonatal respiratory distress, Respiratory insufficiency, Pulmonary arterial hypertension, Exerti... |
ORPHA:98915 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... |
OMIM:610913 |
| Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weakness, Respi... |
ORPHA:70 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Anal atresia |
OMIM:235760 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Restrictive ventilatory defect, Reduced forced vital capacity, Nocturnal hypoventilation |
OMIM:607155 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Apnea |
OMIM:618236 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
| Hyperekplexia 3 |
|
Apnea |
OMIM:614618 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea |
ORPHA:71277 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Respiratory failure, Neonatal respiratory distress, Apnea, Central sleep apnea |
ORPHA:168486 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... |
ORPHA:254875 |
| Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
| Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2150 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Apnea, Death in childhood |
OMIM:611523 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Aganglionic megacolon |
OMIM:235740 |
| Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2155 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Apnea |
OMIM:618225 |
| Anterior Segment Dysgenesis 3 |
|
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... |
OMIM:601631 |
| Cherubism |
|
Marcus Gunn pupil, Optic neuropathy, Macular scar |
OMIM:118400 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon |
OMIM:235750 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Death in infancy, Respiratory insufficiency |
ORPHA:139406 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal motor neuron morphology, Motor axonal neuropathy, Amyotrophic lateral sclerosis, Cranial... |
ORPHA:52430 |
| Foodborne Botulism |
|
Mydriasis, Respiratory insufficiency due to muscle weakness, Cardiorespiratory arrest |
ORPHA:228371 |
| Circumvallate Placenta Syndrome |
|
Respiratory insufficiency |
OMIM:215550 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation |
OMIM:606056 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Respiratory insufficiency due to muscle weakness, Nocturnal hypoventilation, Respiratory insuffic... |
OMIM:254090 |
| Waardenburg Syndrome Type 2 |
|
Aganglionic megacolon, Abnormality of the pulmonary artery |
ORPHA:895 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:614299 |
| Botulism |
|
Mydriasis, Respiratory insufficiency |
ORPHA:1267 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Orthostatic hypotension, Peripheral axonal neuropathy, Abnormal upper motor neuron morphology |
OMIM:263570 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis |
OMIM:250800 |
| Neurotrophic Keratopathy |
|
Diabetes mellitus, Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
| L1 Syndrome |
|
Aganglionic megacolon, Hydrocephalus, Aqueductal stenosis |
ORPHA:275543 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
| Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
| Pure Autonomic Failure |
|
Orthostatic hypotension, Abnormality of circulating catecholamine level, Abnormal autonomic nervo... |
ORPHA:441 |
| Acute Lung Injury |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Dyspnea |
ORPHA:178320 |
| Hirschsprung Disease, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:600155 |
| Hirschsprung Disease, Susceptibility To, 5 |
|
Aganglionic megacolon |
OMIM:600156 |
| Hirschsprung Disease, Susceptibility To, 3 |
|
Aganglionic megacolon |
OMIM:613711 |
| Hirschsprung Disease, Susceptibility To, 4 |
|
Aganglionic megacolon |
OMIM:613712 |
| Serotonin Syndrome |
|
Mydriasis, Tachypnea, Abnormality of the autonomic nervous system, Tremor |
ORPHA:43116 |
| Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Peripheral axonal neuropathy, Short-segment aganglionic megacolon |
OMIM:619465 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... |
OMIM:615294 |
| Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
| Primary Pulmonary Hypoplasia |
|
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Apnea, ... |
ORPHA:2257 |
| Severe Acute Respiratory Syndrome |
|
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... |
ORPHA:140896 |
| Hirschsprung Disease |
|
Aganglionic megacolon, Functional abnormality of the gastrointestinal tract, Neoplasm of the thyr... |
ORPHA:388 |
| Infant Botulism |
|
Mydriasis, Dyspnea, Respiratory insufficiency due to muscle weakness, Keratoconjunctivitis sicca |
ORPHA:178478 |
| Staphylococcal Necrotizing Pneumonia |
|
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... |
ORPHA:36238 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, Bronchiectasis, Decreased f... |
ORPHA:1303 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Acute Interstitial Pneumonia |
|
Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Cyanosis, Decreased DLCO, Nonproductive cough, Re... |
ORPHA:79126 |
| Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... |
OMIM:618695 |
| Rhombencephalosynapsis |
|
Aganglionic megacolon, Septo-optic dysplasia, Agenesis of cerebellar vermis, Esophageal atresia, ... |
ORPHA:59315 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Restrictive ventilatory defect, Exertional dyspnea, Cyanosis, Orthopnea, Reduced vital capacity, ... |
ORPHA:98913 |
| Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria |
|
Abnormal cranial nerve morphology |
OMIM:258470 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Apnea |
OMIM:300864 |
| Auriculocondylar Syndrome 2 |
|
Apnea, Snoring |
OMIM:614669 |
| Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Central hypoventilation |
OMIM:118301 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
| Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Respiratory insufficiency |
OMIM:616321 |
| Myotonia, Potassium-Aggravated |
|
Apneic episodes in infancy, Stridor |
OMIM:608390 |
| Choanal Atresia |
|
Chronic sinusitis, Upper airway obstruction, Respiratory distress, Cyanosis, Abnormal nasal mucus... |
ORPHA:137914 |
| Bresek Syndrome |
|
Aganglionic megacolon, Cleft palate, Optic nerve hypoplasia, Neonatal death, Hydrocephalus |
ORPHA:85284 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Hydrocephalus |
OMIM:613603 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Ectopia Lentis Et Pupillae |
|
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
| Vacterl Association With Hydrocephalus |
|
Respiratory failure, Respiratory insufficiency, Stillbirth |
OMIM:276950 |
| Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Cleft palate, Bifid uvula, Lobulated tongue |
OMIM:174300 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Apnea, Respiratory insufficiency |
OMIM:618226 |
| Ondine Syndrome |
|
Aganglionic megacolon, Abnormality of the autonomic nervous system, Ganglioneuroma |
ORPHA:661 |
| Stevenson-Carey Syndrome |
|
Central hypoventilation |
OMIM:611961 |
| Waardenburg Syndrome, Type 4B |
|
Aganglionic megacolon |
OMIM:613265 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Aganglionic megacolon |
ORPHA:2885 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Death in infancy, Respiratory insufficiency, Neonatal death, Death... |
OMIM:245400 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Respiratory insufficiency |
OMIM:273730 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hypoventilation, Recurrent pneumonia, Sleep apnea |
OMIM:618493 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Mydriasis, Abnormal cranial nerve morphology, Pneumoni... |
ORPHA:79138 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Death in infancy, Apnea |
OMIM:614498 |
| Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis |
OMIM:267450 |
| Typical Nemaline Myopathy |
|
Nocturnal hypoventilation, Respiratory insufficiency |
ORPHA:171436 |
| Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
| Glutamine Deficiency, Congenital |
|
Neonatal death, Neonatal respiratory distress, Apnea, Erythema |
OMIM:610015 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertension, Aspirati... |
ORPHA:258 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Respiratory distress, Cyanosis |
ORPHA:464453 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... |
ORPHA:2590 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Crackles, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defect, Dyspnea |
ORPHA:747 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:613870 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
| Adult Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Abnormal blood gas level, Respiratory failure, Dyspnea |
ORPHA:70578 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Respiratory insufficiency |
OMIM:601612 |
| Congenital Lethal Erythroderma |
|
Urticaria, Death in infancy, Respiratory insufficiency |
ORPHA:1954 |
| Leigh Syndrome With Cardiomyopathy |
|
Respiratory failure, Respiratory distress, Central hypoventilation, Apnea |
ORPHA:70474 |
| Chiari Malformation Type Ii |
|
Dysphagia, Myelomeningocele, Cyanosis, Spina bifida, Hydrocephalus, Gray matter heterotopia, Insp... |
OMIM:207950 |
| Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Respiratory insufficiency |
OMIM:618243 |
| Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology, Optic atrophy |
ORPHA:411493 |
| Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestin... |
ORPHA:95427 |
| Bethlem Myopathy |
|
Hypoventilation, Reduced maximal expiratory pressure |
ORPHA:610 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypopnea, Apnea, Hypoventilation, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
| Cap Myopathy |
|
Central hypoventilation |
ORPHA:171881 |
| Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
| Waardenburg Syndrome, Type 4A |
|
Aganglionic megacolon |
OMIM:277580 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... |
OMIM:601596 |
| Ciliary Dyskinesia, Primary, 32 |
|
Immotile cilia, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis |
OMIM:616481 |
| Bone Dysplasia, Lethal, Holmgren Type |
|
Respiratory insufficiency |
OMIM:211120 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:370968 |
| Mogs-Cdg |
|
Respiratory distress, Apnea, Hypoventilation |
ORPHA:79330 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... |
OMIM:614373 |
| Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Tracheomalacia, Respiratory insufficiency |
OMIM:245650 |
| Paragangliomas 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Dermotrichic Syndrome |
|
Aganglionic megacolon |
ORPHA:99688 |
| Iridocorneal Endothelial Syndrome |
|
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... |
ORPHA:64734 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Respiratory failure, Cyanosis, Paroxysmal dyspnea, Stridor |
ORPHA:444013 |
| Thoracopelvic Dysostosis |
|
Neonatal respiratory distress |
OMIM:187770 |
| Recurrent Respiratory Papillomatosis |
|
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... |
ORPHA:60032 |
| 2Q24 Microdeletion Syndrome |
|
Central apnea |
ORPHA:1617 |
| Alternating Hemiplegia Of Childhood |
|
Mydriasis, Apnea, Tremor, Respiratory distress, Aspiration, Abnormal autonomic nervous system phy... |
ORPHA:2131 |
| Joubert Syndrome With Oculorenal Defect |
|
Abnormality of neuronal migration, Aganglionic megacolon, Tachypnea, Apnea, Cerebellar vermis hyp... |
ORPHA:2318 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy |
OMIM:619386 |
| Joubert Syndrome With Renal Defect |
|
Aganglionic megacolon, Cleft palate, Abnormal pattern of respiration, Apnea, Cerebellar vermis hy... |
ORPHA:220497 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Apnea |
OMIM:616896 |
| Joubert Syndrome |
|
Abnormality of neuronal migration, Aganglionic megacolon, Abnormal pattern of respiration, Apnea,... |
ORPHA:475 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea |
OMIM:619048 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectious pneumonia, Restrict... |
ORPHA:264675 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Central apnea |
ORPHA:320385 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Aganglionic megacolon, Cleft palate, Ventriculomegaly |
ORPHA:66629 |
| Neuroblastoma, Susceptibility To, 2 |
|
Aganglionic megacolon, Ganglioneuroma |
OMIM:613013 |
| Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Spinocerebellar atrophy, Hypogonadotropic hypogonadism, Decreased circulating... |
OMIM:215470 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Abnormal autonomic nervous system physiology |
DECIPHER:59 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
| Amyotrophic Lateral Sclerosis 21 |
|
Dysphagia, Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Abnormal lower mot... |
OMIM:606070 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy |
OMIM:610006 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Apnea, Hyperventilation |
OMIM:229700 |
| Microcoria, Congenital |
|
Microcoria, Miosis, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
| Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
|
Respiratory insufficiency |
OMIM:616325 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Neonatal respiratory distress, Recurrent sinusitis, Cough, Bronchiectasis |
OMIM:300991 |
| Leigh Syndrome |
|
Respiratory failure, Respiratory insufficiency, Abnormal pattern of respiration |
OMIM:256000 |
| Ciliary Dyskinesia, Primary, 23 |
|
Productive cough, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic rhin... |
OMIM:615451 |
| Waardenburg-Shah Syndrome |
|
Intestinal obstruction, Abnormal intestine morphology, Aganglionic megacolon |
ORPHA:897 |
| Congenital Left Ventricular Aneurysm |
|
Apnea |
ORPHA:1055 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Hyperventilation |
OMIM:617903 |
| Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
| Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema |
ORPHA:1164 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea |
OMIM:615031 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory failure, Dyspnea, Respiratory insufficiency due to muscle weakness |
ORPHA:352447 |
| Joubert Syndrome 7 |
|
Tachypnea, Central apnea, Neonatal breathing dysregulation, Episodic tachypnea |
OMIM:611560 |
| Illum Syndrome |
|
Apnea |
OMIM:208155 |
| Arnold-Chiari Malformation Type Ii |
|
Meningocele, Dysphagia, Abnormality of the medulla oblongata, Myelomeningocele, Pneumonia, Apnea,... |
ORPHA:1136 |
| Hyperekplexia 1 |
|
Aspiration, Apnea |
OMIM:149400 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Obstructive sleep apnea, Central sleep apnea |
ORPHA:70472 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Mydriasis, Retinal infarction, Tachypnea, Pulmonary arterial hypertension |
OMIM:613834 |
| Cocaine Intoxication |
|
Mydriasis, Wheezing, Tachypnea, Pneumothorax, Cough, Tremor, Respiratory distress, Hyperventilation |
ORPHA:90068 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Respiratory insufficiency |
OMIM:160565 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Respiratory failure, Intercostal muscle weakness, Stridor, Obstructive sleep apnea |
OMIM:606071 |
| Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
| Pseudo-Torch Syndrome 3 |
|
Death in infancy, Apnea, Respiratory insufficiency |
OMIM:618886 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Respiratory failure, Neonatal respiratory distress |
OMIM:616867 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Apnea, Respiratory insufficiency, Jaundice |
OMIM:608093 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Dyspnea, Respiratory insufficiency |
OMIM:606842 |
| Cystic Hamartoma Of Lung And Kidney |
|
Respiratory insufficiency |
ORPHA:2111 |
| Nemaline Myopathy 2 |
|
Respiratory insufficiency due to muscle weakness, Apnea |
OMIM:256030 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Exertional dyspnea, Elevated pulmonary artery pressure, Cyanosis, Decreased DLCO, Hemo... |
ORPHA:199241 |
| Prader-Willi Syndrome |
|
Hypoventilation, Cutaneous photosensitivity, Sleep apnea |
OMIM:176270 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Death in infancy |
OMIM:614862 |
| Neurological Conditions Associated With Aminoacylase 1 Deficiency |
|
Apnea |
ORPHA:137754 |
| Avian Influenza |
|
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Non... |
ORPHA:454836 |
| Leigh Syndrome With Leukodystrophy |
|
Apnea |
ORPHA:255241 |
| Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Cleft palate, Abnormal pattern of respiration, Apnea, Cerebellar vermis hy... |
ORPHA:220493 |
| Gaucher Disease, Type Ii |
|
Apnea, Recurrent aspiration pneumonia |
OMIM:230900 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Respiratory insufficiency |
OMIM:612999 |
| Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Respiratory failure, Tachypnea, Ventilator dependence with inability to wean, Inspiratory stridor |
OMIM:604320 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon |
ORPHA:1438 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Malabsorption, Ventriculomegaly |
ORPHA:452 |
| Attrv122I Amyloidosis |
|
Abnormal autonomic nervous system physiology, Abnormality of enteric nervous system morphology |
ORPHA:85451 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Death in infancy |
OMIM:610678 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Dysphagia, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper ... |
OMIM:205100 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:2759 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Apnea, Inspiratory stridor |
OMIM:600721 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Decreased nerve conduction velocity |
ORPHA:101082 |
| Corneal Dystrophy, Posterior Amorphous |
|
Corneal dystrophy, Ectopia pupillae, Iris coloboma |
OMIM:612868 |
| Pulmonary Hemosiderosis |
|
Respiratory insufficiency |
OMIM:178550 |
| X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal pupil morphology, Iris hypopigmentation, Astig... |
ORPHA:54 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Exertional dyspnea, Dyspnea, Respiratory insufficiency |
OMIM:614370 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure |
OMIM:613954 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Pheochromocytoma, Aganglionic megacolon, Increased circulating cortisol level, Medullary thyroid ... |
OMIM:171400 |
| Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Decreased nerve conduction velocity, Achalasia, Cyanosis, Abnormal auton... |
OMIM:252320 |
| Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract, Abnormal retinal vascular morphology, Respirat... |
ORPHA:2119 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Apnea |
OMIM:614883 |
| Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
| Myopathy, Centronuclear, X-Linked |
|
Respiratory failure, Neonatal respiratory distress, Respiratory failure requiring assisted ventil... |
OMIM:310400 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... |
OMIM:122000 |
| Myoclonus, Intractable, Neonatal |
|
Apnea |
OMIM:617235 |
| Idiopathic Pulmonary Hemosiderosis |
|
Restrictive ventilatory defect, Crackles, Cough, Respiratory failure, Dyspnea |
ORPHA:99931 |
| Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
| Joubert Syndrome 17 |
|
Hyperventilation |
OMIM:614615 |
| Snakebite Envenomation |
|
Ecchymosis, Angioedema, Epistaxis, Respiratory paralysis, Erythema, Respiratory failure |
ORPHA:449285 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Abnormal respiratory system physiology, Respiratory insuffici... |
ORPHA:133 |
| Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Obstructive sleep apnea, Central hypoventilation, Cyanosis, Hypoventilation, Cardiorespiratory ar... |
ORPHA:293987 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Hypoventilation, Respiratory insufficiency |
ORPHA:99949 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Apnea, Facial erythema |
ORPHA:439218 |
| Congenital Tracheomalacia |
|
Wheezing, Productive cough, Neonatal respiratory distress, Stridor, Respiratory insufficiency, Tr... |
ORPHA:95430 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Aganglionic megacolon |
ORPHA:2151 |
| Tracheal Agenesis |
|
Respiratory insufficiency |
ORPHA:3346 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon |
ORPHA:261222 |
| Pulmonary Arteriovenous Malformation |
|
Hypoxemia, Telangiectasia, Epistaxis, Pulmonary arterial hypertension, Cough, Pleural empyema, Cy... |
ORPHA:2038 |
| Waardenburg Syndrome, Type 3 |
|
Aganglionic megacolon |
OMIM:148820 |
| Piebald Trait |
|
Aganglionic megacolon |
OMIM:172800 |
| Scedosporiosis |
|
Sinusitis, Bronchial breath sound, Abnormal respiratory system physiology, Pneumonia, Cough, Pleu... |
ORPHA:449280 |
| Multiple Endocrine Neoplasia Type 2 |
|
Elevated circulating parathyroid hormone level, Pheochromocytoma, Aganglionic megacolon, Ganglion... |
ORPHA:653 |
| Hyperphosphatasia With Mental Retardation Syndrome 2 |
|
Aganglionic megacolon, Cleft palate, Peripheral pulmonary artery stenosis, Anal atresia, Ventricu... |
OMIM:614749 |
| Amyotrophic Lateral Sclerosis |
|
Respiratory failure, Dyspnea, Abnormal respiratory system physiology |
ORPHA:803 |
| Arachnoid Cyst |
|
Mydriasis, Cranial nerve compression, Facial palsy |
ORPHA:2356 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
| Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
| Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Tachypnea, Cyanosis, Respiratory failure, Respiratory failure requiring assisted venti... |
ORPHA:555874 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure, Reduced subcutaneous adipose tissue |
ORPHA:363400 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Apnea |
OMIM:619527 |
| Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Respiratory insufficiency |
ORPHA:147 |
| Hereditary Methemoglobinemia |
|
Exertional dyspnea, Cyanosis |
ORPHA:621 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Apnea |
OMIM:614969 |
| Fryns Syndrome |
|
Dandy-Walker malformation, Abnormal aortic morphology, Aganglionic megacolon, High palate, Cleft ... |
ORPHA:2059 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure |
OMIM:615838 |
| Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
| Congenital Myasthenic Syndrome |
|
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... |
ORPHA:98914 |
| Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Corneal opacity, Ectopia pupillae |
OMIM:608484 |
| Igg4-Related Ophthalmic Disease |
|
Abnormality of the anterior pituitary, Abnormality of infra-orbital nerve, Abnormal fifth cranial... |
ORPHA:449563 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Apnea |
ORPHA:1129 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Retinal nonattachment, Reti... |
OMIM:221900 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Respiratory failure, Death in infancy |
OMIM:617186 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
| Auriculocondylar Syndrome 1 |
|
Apnea, Snoring |
OMIM:602483 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis, Elevated pulmonary artery pressure, Respiratory failure requiring assisted ventilation |
OMIM:619351 |
| Myotonia Fluctuans |
|
Apnea, Stridor |
ORPHA:99734 |
| Mercury Poisoning |
|
Respiratory failure, Respiratory distress, Dyspnea, Interstitial pneumonitis |
ORPHA:330021 |
| Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
| Waardenburg Syndrome Type 1 |
|
Meningocele, Aganglionic megacolon, Cleft palate, Spina bifida |
ORPHA:894 |
| Joubert Syndrome 3 |
|
Central apnea, Neonatal breathing dysregulation, Episodic tachypnea |
OMIM:608629 |
| Spermatogenic Failure 15 |
|
Aspiration |
OMIM:616950 |
| Developmental And Epileptic Encephalopathy 90 |
|
Apneic episodes in infancy |
OMIM:301058 |
| Ciliary Dyskinesia, Primary, 18 |
|
Respiratory insufficiency, Ciliary dyskinesia, Rhinitis, Respiratory insufficiency due to defecti... |
OMIM:614874 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Cerebellar cyst, Macroglossia, Dilated fourth ventricle, Optic nerve hypoplasia, H... |
ORPHA:370959 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Aspiration pneumonia, Episodic tachypnea |
ORPHA:79264 |
| Multiple Endocrine Neoplasia, Type Iib |
|
High, narrow palate, Aganglionic megacolon, High palate, Nodular goiter, Medullary thyroid carcin... |
OMIM:162300 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Neonatal respiratory distress, Pulmonary arterial hypertension |
OMIM:619003 |
| Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
| Spinocerebellar Ataxia Type 1 |
|
Optic atrophy, Dysphagia, Cerebellar atrophy, Abnormality of somatosensory evoked potentials, Atr... |
ORPHA:98755 |
| Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
| Pulmonary Alveolar Microlithiasis |
|
Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, Bronchiectasis, Tachypnea, ... |
ORPHA:60025 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Respiratory failure, Death in infancy |
ORPHA:1194 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Dysphagia, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Dysphagia, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology |
OMIM:616437 |
| Phacoanaphylactic Uveitis |
|
Conjunctival hyperemia, Hypopyon, Posterior synechiae of the anterior chamber, Cystoid macular ed... |
ORPHA:209959 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Aganglionic megacolon, Olivopontocerebellar atrophy, Cleft palate, Ventriculomegaly |
OMIM:308205 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Posterior Polymorphous Corneal Dystrophy |
|
Corneal stromal edema, Reduced number of corneal endothelial cells, Chorioretinal degeneration, I... |
ORPHA:98973 |
| Down Syndrome |
|
Aganglionic megacolon, Duodenal stenosis, Macroglossia, Anal atresia, Hypothyroidism, Protruding ... |
OMIM:190685 |
| Tracheobronchopathia Osteochondroplastica |
|
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... |
ORPHA:3348 |
| Harrod Syndrome |
|
Pyloric stenosis, High, narrow palate, Aganglionic megacolon, High palate, Malrotation of small b... |
OMIM:601095 |
| Coach Syndrome 2 |
|
Apneic episodes in infancy |
OMIM:619111 |
| Familial Nasal Acilia |
|
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Dyspnea, Atelectasis |
ORPHA:922 |
| Ciliary Dyskinesia, Primary, 30 |
|
Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to d... |
OMIM:616037 |
| Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Abnormal brainstem morphology, Optic atrophy, Aplasia/Hypoplasia of the cerebellum |
ORPHA:79279 |
| Pituitary Apoplexy |
|
Mydriasis |
ORPHA:95613 |
| American Trypanosomiasis |
|
Achalasia, Aganglionic megacolon |
ORPHA:3386 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Respiratory distress |
OMIM:617895 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology |
OMIM:602099 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology |
OMIM:105500 |
| Atypical Rett Syndrome |
|
Sudden episodic apnea, Abnormal pattern of respiration, Episodic tachypnea |
ORPHA:3095 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Peripheral demyelination, Axonal loss, Abnormal upper motor neuron morphology |
OMIM:221770 |
| Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
| X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Ileus |
ORPHA:52503 |
| Pancreatic And Cerebellar Agenesis |
|
Death in infancy, Apnea, Reduced subcutaneous adipose tissue |
OMIM:609069 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Peripheral demyelination, Absent brainstem auditory responses, Decreased nerve conduction velocit... |
OMIM:609136 |
| Benign Schwannoma |
|
Abnormal cranial nerve morphology, Vestibular Schwannoma, Abnormal parotid gland morphology, Faci... |
ORPHA:252164 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormal motor neuron morphology, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Recurrent pneumonia, Spontaneous pneumothorax, Respiratory failure, Jaundice |
ORPHA:731 |
| Joubert Syndrome 8 |
|
Prolonged neonatal jaundice, Hyperventilation |
OMIM:612291 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Waardenburg Syndrome |
|
Aganglionic megacolon, Myelomeningocele, Intestinal obstruction, Abnormality of the gastrointesti... |
ORPHA:3440 |
| Scorpion Envenomation |
|
Mydriasis, Tachypnea, Miosis, Tremor, Abnormal nasal mucus secretion |
ORPHA:466677 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency |
OMIM:613845 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Axonal loss, Abnormal autonomic nervous system physiology |
OMIM:614575 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Sudden episodic apnea, Cyanosis, Respiratory insufficiency |
ORPHA:159 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Respiratory failure, Hypoxemia, Tachypnea, Pleural effusion |
ORPHA:542323 |
| Peripartum Cardiomyopathy |
|
Paroxysmal dyspnea, Crackles, Pulmonary arterial hypertension, Exertional dyspnea, Orthopnea, Ast... |
ORPHA:563 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Dysphagia, Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology |
ORPHA:275872 |
| Aniridia 1 |
|
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Bruising susceptibility |
ORPHA:3226 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Apnea |
OMIM:210200 |
| Boutonneuse Fever |
|
Respiratory failure, Petechiae |
ORPHA:83313 |
| Hypophosphatasia, Infantile |
|
Death in infancy, Apnea, Stillbirth |
OMIM:241500 |
| Primary Ciliary Dyskinesia |
|
Wheezing, Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chro... |
ORPHA:244 |
| Hyperphosphatasia With Mental Retardation Syndrome 1 |
|
Aganglionic megacolon, Cleft palate, Abnormal rectum morphology, Hydrocephalus, Anteriorly placed... |
OMIM:239300 |
| Piebaldism |
|
Aganglionic megacolon |
ORPHA:2884 |
| Fatal Familial Insomnia |
|
Apnea |
OMIM:600072 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Apnea, Respiratory insufficiency |
OMIM:614653 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Apnea |
ORPHA:79644 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Optic atrophy, Cerebellar atrophy, Abnormal lower motor neuron morphology |
OMIM:614298 |
| Rett Syndrome |
|
Apnea, Intermittent hyperventilation |
OMIM:312750 |
| Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic atrophy, Dysphagia, Optic disc pallor, Spinocere... |
OMIM:164400 |
| Down Syndrome |
|
Aganglionic megacolon, Type II diabetes mellitus, Macroglossia, Anal atresia, Narrow palate, Hypo... |
ORPHA:870 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebellar vermis hypoplasia, Lissencephaly, Simplified gyral pattern, Cyanotic episode |
ORPHA:284417 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Abnormal cranial nerve morphology |
OMIM:105250 |
| Geleophysic Dysplasia 3 |
|
Respiratory failure, Pneumonia, Dyspnea, Sleep apnea |
OMIM:617809 |
| Thymoma, Familial |
|
Respiratory insufficiency |
OMIM:274230 |
| 48,Xxyy Syndrome |
|
Apnea, Asthma |
ORPHA:10 |
| Goldberg-Shprintzen Syndrome |
|
Hypoplasia of the brainstem, Aganglionic megacolon |
OMIM:609460 |
| Machado-Joseph Disease Type 3 |
|
Dysphagia, Peripheral axonal neuropathy, Cerebellar atrophy, Dilated fourth ventricle, Spinocereb... |
ORPHA:276244 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Tracheomalacia, Atelectasis |
ORPHA:896 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:2707 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
| Pontocerebellar Hypoplasia Type 2 |
|
Apnea |
ORPHA:2524 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Death in childhood, Apnea, Jaundice |
OMIM:214110 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Dysphagia, Abnormal lower motor neuron morphology |
OMIM:607225 |
| Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Apnea |
OMIM:608809 |
| Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea |
OMIM:314580 |
| Polycystic Kidney, Cataract, And Congenital Blindness |
|
Hypoplasia of the retina, Microcoria, Retinal dystrophy, Cataract |
OMIM:263100 |
| Complete Atrioventricular Septal Defect |
|
Wheezing, Crackles, Tachypnea, Elevated pulmonary artery pressure, Pulmonary venous hypertension,... |
ORPHA:1329 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Death in infancy, Cutis marmorata, Apnea |
OMIM:602613 |
| Machado-Joseph Disease |
|
Dysphagia, Cerebellar atrophy, Dilated fourth ventricle, Spinocerebellar tract degeneration, Abno... |
OMIM:109150 |
| Sepsis In Premature Infants |
|
Abnormal respiratory system physiology, Petechiae, Cyanosis, Abnormal mucociliary clearance, Purp... |
ORPHA:90051 |
| Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperventilation |
OMIM:253270 |
| Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia |
|
Respiratory insufficiency |
OMIM:618042 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Apnea |
OMIM:300055 |
| Cartilage-Hair Hypoplasia |
|
Malabsorption, Aganglionic megacolon, Esophageal atresia |
OMIM:250250 |
| Niemann-Pick Disease, Type C2 |
|
Respiratory failure, Prolonged neonatal jaundice, Respiratory insufficiency |
OMIM:607625 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Primary Lateral Sclerosis |
|
Dysphagia, Cervical spinal cord atrophy, Motor axonal neuropathy, Atrophy of the spinal cord, Abn... |
ORPHA:35689 |
| Arnold-Chiari Malformation Type I |
|
Dysphagia, Myelopathy, Cranial nerve compression, Syringomyelia, Abnormality of the eleventh cran... |
ORPHA:268882 |
| Radio-Renal Syndrome |
|
Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylothorax |
ORPHA:3015 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Aganglionic megacolon, Ileus |
OMIM:300352 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... |
ORPHA:308552 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Abnormal midbrain morphology, Abnormal pons morphology... |
ORPHA:79139 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Apneic episodes in infancy, Episodic tachypnea, Respiratory distress, Dyspnea, Intermittent hyper... |
ORPHA:348 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Orofaciodigital Syndrome Xvi |
|
Apnea |
OMIM:617563 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure |
OMIM:616505 |
| Familial Visceral Myopathy |
|
Aganglionic megacolon, Cleft palate, Hyperparathyroidism |
ORPHA:2604 |
| Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Duodenal stenosis, Volvulus, Intestinal malrotation, Anal atresia, Tracheo... |
ORPHA:210122 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Apnea |
OMIM:618056 |
| Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Tra... |
ORPHA:91495 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology |
OMIM:105550 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Amyotrophic lateral sclerosis, Facial palsy |
OMIM:167320 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Central apnea, Pulmonary arterial hypertension, Sleep apnea |
OMIM:616482 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Obstructive sleep apnea, Apnea, Breathing dysregulation, Central sleep apnea, Hypoventilation, As... |
ORPHA:438213 |
| Ramos-Arroyo Syndrome |
|
