| 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 |
| Apnea, Central Sleep |
|
Irregular respiration, Cyanosis, Sleep apnea, Abnormal pattern of respiration |
OMIM:207720 |
| Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Respiratory failure |
OMIM:208081 |
| Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
| Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Neonatal death |
OMIM:611369 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
|
Respiratory insufficiency, Restrictive ventilatory defect, Airway obstruction, Reduced forced vit... |
OMIM:617232 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Apnea, Respiratory failure, Central hypoventilation |
OMIM:619483 |
| Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory insufficiency, Apnea, Respiratory failure, Death in infancy |
OMIM:613869 |
| Phosphoserine Aminotransferase Deficiency |
|
Apnea, Cyanotic episode, Death in infancy |
OMIM:610992 |
| Parana Hard-Skin Syndrome |
|
Respiratory insufficiency |
OMIM:260530 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Apnea, Death in infancy |
OMIM:618235 |
| Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea |
OMIM:611722 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Breathing dysregulation, Neonatal death, Hypoventilation |
OMIM:618232 |
| Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... |
DECIPHER:29 |
| Laryngotracheal Angioma |
|
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing |
ORPHA:137935 |
| Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Respiratory insufficiency, Apnea, Central hypoventilation |
OMIM:300673 |
| Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:253300 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration |
OMIM:618328 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory failure, Death in adolescence, Respiratory insufficiency due to muscle weakness |
OMIM:300717 |
| Athabaskan Brainstem Dysgenesis Syndrome |
|
Central hypoventilation |
OMIM:601536 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Respiratory distress, Cough, Respiratory failure, Tachypnea |
OMIM:263000 |
| Worster-Drought Syndrome |
|
Abnormal cranial nerve morphology |
ORPHA:3465 |
| Immunodeficiency 95 |
|
Respiratory failure, Respiratory distress, Recurrent viral pneumonia |
OMIM:619773 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Apnea, Sleep apnea, Respiratory failure, Central hypoventilation |
OMIM:618233 |
| Perching Syndrome |
|
Cyanosis, Respiratory distress |
OMIM:617055 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
| Lethal Congenital Contracture Syndrome 4 |
|
Respiratory insufficiency |
OMIM:614915 |
| Laryngeal Abductor Paralysis |
|
Respiratory insufficiency |
ORPHA:2808 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
| Chronic Pneumonitis Of Infancy |
|
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... |
ORPHA:91359 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Apnea, Neonatal death |
OMIM:615228 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:616081 |
| Uveal Melanoma |
|
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili... |
ORPHA:39044 |
| Maple Syrup Urine Disease |
|
Respiratory insufficiency |
ORPHA:511 |
| Postpoliomyelitis Syndrome |
|
Respiratory insufficiency, Hypoventilation |
ORPHA:2942 |
| Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
| Myasthenic Syndrome, Congenital, 8 |
|
Respiratory insufficiency |
OMIM:615120 |
| Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis |
ORPHA:2901 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Cerebellar hypoplasia |
OMIM:304100 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| X-Linked Complicated Corpus Callosum Dysgenesis |
|
Aganglionic megacolon, Cerebellar hypoplasia |
ORPHA:1497 |
| Larynx Atresia |
|
Respiratory insufficiency |
ORPHA:1202 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress |
ORPHA:2004 |
| Congenital Myopathy 14 |
|
Apnea, Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness |
OMIM:618414 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Cyanosis, Death in infancy, Apnea, Dyspnea, Respiratory failure,... |
OMIM:265120 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal respiratory system phys... |
ORPHA:266 |
| Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
| Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
| Congenital Pulmonary Veins Atresia Or Stenosis |
|
Respiratory insufficiency |
ORPHA:3188 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Enterocolitis, Abnormality of enteric ganglion morphology |
OMIM:142623 |
| Aganglionosis, Total Intestinal |
|
Total intestinal aganglionosis |
OMIM:202550 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation |
OMIM:603689 |
| Bronchopulmonary Dysplasia |
|
Tracheobronchomalacia, Hyperoxemia, Abnormal respiratory system physiology, Respiratory distress,... |
ORPHA:70589 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Nocturnal hypoventilation |
OMIM:616470 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Respiratory insufficiency, Apnea |
OMIM:617239 |
| Burning Mouth Syndrome |
|
Abnormality of somatosensory evoked potentials, Abnormal fifth cranial nerve morphology, Strawber... |
ORPHA:353253 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... |
ORPHA:90117 |
| Perry Syndrome |
|
Respiratory insufficiency, Respiratory arrest, Hypoventilation, Central hypoventilation |
OMIM:168605 |
| Iatrogenic Botulism |
|
Orthostatic hypotension, Dyspnea, Mydriasis |
ORPHA:254509 |
| Cryptogenic Organizing Pneumonia |
|
Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect... |
ORPHA:1302 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Apnea, Hypoventilation, Stridor |
OMIM:617143 |
| Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy |
OMIM:615348 |
| Perry Syndrome |
|
Central hypoventilation |
ORPHA:178509 |
| Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Restrictive ventilatory defect, Respiratory failure, Obstructive sleep apnea, Re... |
OMIM:310200 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Respiratory distress |
ORPHA:91130 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Optic pit, Chorioretinal coloboma |
OMIM:616428 |
| Acute Zonal Occult Outer Retinopathy |
|
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... |
ORPHA:284454 |
| Intestinal Botulism |
|
Dyspnea, Mydriasis, Respiratory insufficiency due to muscle weakness |
ORPHA:178481 |
| Toxin-Mediated Infectious Botulism |
|
Dyspnea, Mydriasis, Respiratory insufficiency due to muscle weakness |
ORPHA:230800 |
| Pontocerebellar Hypoplasia Type 4 |
|
Respiratory failure requiring assisted ventilation, Central apnea |
ORPHA:166063 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Nocturnal hypoventilation, Hypoxemia, Apnea, Hypercapnia, Central hypoventilation |
OMIM:209880 |
| Haddad Syndrome |
|
Central sleep apnea, Breathing dysregulation, Central hypoventilation, Death in infancy |
ORPHA:99803 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory insufficiency, Nocturnal hypoventilation, Respiratory distress, Dyspnea, Stridor |
OMIM:211530 |
| Ravine Syndrome |
|
Apnea |
ORPHA:99852 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:1832 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Neonatal death, Apnea, Respiratory failure |
OMIM:610127 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Hypoxemia, Inspiratory crackles, Restrictive ventilatory defect, Dyspnea, Cough, Pneumo... |
OMIM:610910 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... |
OMIM:254210 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Respiratory failure, Death in infancy |
OMIM:616277 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
High palate, Paucity of anterior horn motor neurons, Facial diplegia, Peripheral axonal neuropath... |
OMIM:611890 |
| Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Jaundice |
ORPHA:890 |
| Abcd Syndrome |
|
Aganglionic megacolon, Neonatal death, Total intestinal aganglionosis, Abnormal auditory evoked p... |
OMIM:600501 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Intesti... |
OMIM:243180 |
| Ciliary Dyskinesia, Primary, 44 |
|
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Neonatal respiratory distress... |
OMIM:618781 |
| Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
| Wound Botulism |
|
Dyspnea, Mydriasis, Respiratory insufficiency due to muscle weakness |
ORPHA:178475 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy |
OMIM:225753 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
| Marcus-Gunn Syndrome |
|
Cleft palate, Abnormal fifth cranial nerve morphology |
ORPHA:91412 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Cyanosis, Respiratory failure, Exertional dyspnea, Death in infancy, Hypoxemia, Respiratory distr... |
OMIM:610921 |
| Asbestos Intoxication |
|
Cyanosis, Exertional dyspnea, Late inspiratory crackles, Hypoxemia, Reduced forced vital capacity... |
ORPHA:2302 |
| Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
| Congenital Pulmonary Airway Malformation |
|
Respiratory insufficiency |
ORPHA:2444 |
| Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
| Hirschsprung Disease, Susceptibility To, 3 |
|
Aganglionic megacolon, Total colonic aganglionosis, Long-segment aganglionic megacolon |
OMIM:613711 |
| Pneumocystosis |
|
Respiratory insufficiency, Exertional dyspnea, Interstitial pneumonitis, Hypoxemia, Pleural effus... |
ORPHA:723 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress |
OMIM:619057 |
| Developmental And Epileptic Encephalopathy 61 |
|
Apnea |
OMIM:617933 |
| Ganglioneuroma |
|
Central hypoventilation |
ORPHA:251992 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Cyanosis, Respiratory distress, Chronic pulmonary obstruction, P... |
ORPHA:2414 |
| Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Neonatal death, Death in childhood, Death in infancy |
OMIM:619334 |
| Primary Lateral Sclerosis, Juvenile |
|
Pseudobulbar paralysis, Decreased compound muscle action potential amplitude, Abnormal upper moto... |
OMIM:606353 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... |
OMIM:605253 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... |
OMIM:605809 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Hypoventilation, Aspiration pneumonia, Respiratory distress, Apnea, Recurrent pneumonia |
ORPHA:314655 |
| Myasthenic Syndrome, Congenital, 16 |
|
Apnea |
OMIM:614198 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Nasal flaring, Hypoxemia, Respiratory failure, Pneumonia, Tachypnea |
ORPHA:70587 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Respiratory insufficiency |
ORPHA:640 |
| Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Ventriculomegaly, Aganglionic megacolon, O... |
ORPHA:171680 |
| Joubert Syndrome 23 |
|
Apnea, Tachypnea |
OMIM:616490 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory insufficiency, Restrictive ventilatory defect, Respiratory distress, Respiratory failure |
OMIM:614399 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Aganglionic megacolon |
OMIM:306980 |
| Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Apneic episodes in infancy |
ORPHA:500545 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Restrictive ventilatory defect, Cough, Abnormal pattern of respiration |
ORPHA:724 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
| Proximal Spinal Muscular Atrophy |
|
Respiratory failure, Hypoventilation, Recurrent aspiration pneumonia, Restrictive ventilatory def... |
ORPHA:70 |
| Classic Multiminicore Myopathy |
|
Restrictive ventilatory defect, Nocturnal hypoventilation, Intermittent episodes of respiratory i... |
ORPHA:324604 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Restrictive ventilatory defect, Reduced forced vital capacity, Nocturnal hypoventilation |
OMIM:607155 |
| Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Respiratory insufficiency, Apnea |
OMIM:617290 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory insufficiency |
OMIM:618252 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Cyanosis, Bronchiectasis, Interstitia... |
OMIM:610913 |
| Inhalational Botulism |
|
Dyspnea, Mydriasis |
ORPHA:254504 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Exertional dyspnea, ... |
ORPHA:98915 |
| Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Peripheral axonal neuropathy, Short-segment aganglionic megacolon |
OMIM:619465 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Cyanosis |
OMIM:610773 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Anal atresia |
OMIM:235760 |
| Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Degeneration of anterior horn cells, Peripheral axonal degeneration, Abnormal lower motor neuron ... |
OMIM:602433 |
| Congenital Myopathy 3 With Rigid Spine |
|
Restrictive ventilatory defect, Reduced vital capacity, Nocturnal hypoventilation |
OMIM:602771 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Respiratory insufficiency, Death in infancy |
ORPHA:139406 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
| Chiari Malformation Type Ii |
|
Cyanosis, Gray matter heterotopia, Myelomeningocele, Chiari malformation, Spina bifida, Hydroceph... |
OMIM:207950 |
| Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2150 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Respiratory insufficiency |
OMIM:616314 |
| Neurotrophic Keratopathy |
|
Diabetes mellitus, Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea |
ORPHA:71277 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Aganglionic megacolon |
OMIM:235740 |
| Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2155 |
| Cherubism |
|
Macular scar, Optic neuropathy, Marcus Gunn pupil |
OMIM:118400 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon |
OMIM:235750 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
| Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... |
OMIM:601631 |
| Circumvallate Placenta Syndrome |
|
Respiratory insufficiency |
OMIM:215550 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Respiratory insufficiency, Nocturnal hypoventilation, Respiratory insufficiency due to muscle wea... |
OMIM:254090 |
| Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... |
OMIM:225200 |
| Foodborne Botulism |
|
Cardiorespiratory arrest, Mydriasis, Respiratory insufficiency due to muscle weakness |
ORPHA:228371 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cranial nerve compression, Motor axonal neuropathy, Abnormal motor neuron morphology, Sensory axo... |
ORPHA:52430 |
| Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
| Waardenburg Syndrome Type 2 |
|
Aganglionic megacolon, Abnormality of the pulmonary artery |
ORPHA:895 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... |
ORPHA:254875 |
| Botulism |
|
Respiratory insufficiency, Mydriasis |
ORPHA:1267 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Orthostatic hypotension, Abnormal upper motor neuron morphology, Peripheral axonal neuropathy |
OMIM:263570 |
| L1 Syndrome |
|
Aganglionic megacolon, Hydrocephalus, Aqueductal stenosis |
ORPHA:275543 |
| Primary Pulmonary Hypoplasia |
|
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Apnea, Restrictive ventilatory ... |
ORPHA:2257 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Central sleep apnea, Apnea, Respiratory failure |
ORPHA:168486 |
| Hirschsprung Disease, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:600155 |
| Hirschsprung Disease, Susceptibility To, 5 |
|
Aganglionic megacolon |
OMIM:600156 |
| Hirschsprung Disease, Susceptibility To, 4 |
|
Aganglionic megacolon |
OMIM:613712 |
| Pure Autonomic Failure |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Abnormality of circulating... |
ORPHA:441 |
| Ciliary Dyskinesia, Primary, 5 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:608647 |
| Hirschsprung Disease |
|
Functional abnormality of the gastrointestinal tract, Aganglionic megacolon, Intestinal polyposis... |
ORPHA:388 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory insufficiency, Respiratory failure |
OMIM:313420 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Apnea |
OMIM:618236 |
| Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
| Acute Lung Injury |
|
Hypoxemia, Respiratory distress, Dyspnea, Respiratory failure, Pneumonia, Tachypnea |
ORPHA:178320 |
| Serotonin Syndrome |
|
Mydriasis, Tremor, Abnormality of the autonomic nervous system, Tachypnea |
ORPHA:43116 |
| Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Abnormal dentate nucleus morphology, Ventriculomegaly, Sept... |
ORPHA:59315 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Exertional dyspnea, Restrictive ventilatory defect, Orthopnea, Reduced vital capacity, ... |
ORPHA:98913 |
| Infant Botulism |
|
Keratoconjunctivitis sicca, Dyspnea, Mydriasis, Respiratory insufficiency due to muscle weakness |
ORPHA:178478 |
| Severe Acute Respiratory Syndrome |
|
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... |
ORPHA:140896 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Choanal Atresia |
|
Cyanosis, Abnormal nasal mucus secretion, Respiratory distress, Chronic sinusitis, Upper airway o... |
ORPHA:137914 |
| Joubert Syndrome 33 |
|
Apnea |
OMIM:617767 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Dysp... |
ORPHA:36238 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
| Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria |
|
Abnormal cranial nerve morphology |
OMIM:258470 |
| Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:276950 |
| Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Respiratory insufficiency, Apnea |
OMIM:618198 |
| Bresek Syndrome |
|
Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Cleft palate, Neonatal death |
ORPHA:85284 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Ciliary Dyskinesia, Primary, 42 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... |
OMIM:618695 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
| Congenital Central Hypoventilation Syndrome |
|
Aganglionic megacolon, Abnormality of the autonomic nervous system, Ganglioneuroma |
ORPHA:661 |
| Waardenburg Syndrome, Type 4B |
|
Aganglionic megacolon |
OMIM:613265 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Aganglionic megacolon |
ORPHA:2885 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Respiratory insufficiency, Death in infancy, Respiratory failure, Neonatal death, Death in childh... |
OMIM:245400 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
| Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
OMIM:612577 |
| Stevenson-Carey Syndrome |
|
Central hypoventilation |
OMIM:611961 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Apnea, Death in childhood |
OMIM:618225 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Recurrent pneumonia, Sleep apnea, Hypoventilation |
OMIM:618493 |
| Cap Myopathy |
|
Central hypoventilation |
ORPHA:171881 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Bronchiectasis, Hypoxemia, Pleural effusion, Crackles, Dyspnea, Respiratory failure, De... |
ORPHA:79126 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure, Mydriasis, Decreased motor nerve conduction velocity, Abnormality of the aut... |
ORPHA:79138 |
| Typical Nemaline Myopathy |
|
Respiratory insufficiency, Nocturnal hypoventilation |
ORPHA:171436 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Aspiration pneumonia, Apnea, Restrictive ventilatory defect, Hypopnea |
OMIM:619482 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation |
OMIM:606056 |
| Congenital Myopathy 11 |
|
Neonatal respiratory distress, Apneic episodes in infancy |
OMIM:619967 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory failure, Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weak... |
ORPHA:2590 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Abnormality of neuronal migration, Molar tooth sign on MRI, Aganglionic megacolon,... |
ORPHA:2318 |
| Acquired Methemoglobinemia |
|
Dyspnea, Cyanosis, Hypoxemia, Respiratory distress |
ORPHA:464453 |
| Leigh Syndrome With Cardiomyopathy |
|
Apnea, Respiratory failure, Respiratory distress, Central hypoventilation |
ORPHA:70474 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Abnormal autonomic nervous system physiology, Aganglionic megacolon |
OMIM:613870 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Molar tooth sign on MRI, Aganglionic megacolon, Hydrocephalus, Cerebellar vermis h... |
ORPHA:220497 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Hypoxemia, Crackles, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO |
ORPHA:747 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Aspiration, Intercos... |
ORPHA:258 |
| Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Enterocolitis, Villous atrophy, Small intestinal dysmotility, Malabsorpti... |
ORPHA:95427 |
| Mogs-Cdg |
|
Apnea, Hypoventilation, Respiratory distress |
ORPHA:79330 |
| Adult Acute Respiratory Distress Syndrome |
|
Hypoxemia, Dyspnea, Abnormal blood gas level, Respiratory failure, Pneumonia |
ORPHA:70578 |
| Ciliary Dyskinesia, Primary, 21 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... |
OMIM:615294 |
| Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Neonatal death, Apnea, Erythema |
OMIM:610015 |
| Joubert Syndrome |
|
Encephalocele, Abnormality of neuronal migration, Episodic tachypnea, Aganglionic megacolon, Hydr... |
ORPHA:475 |
| Bethlem Myopathy |
|
Reduced maximal expiratory pressure, Hypoventilation |
ORPHA:610 |
| Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Neonatal... |
OMIM:619751 |
| Alternating Hemiplegia Of Childhood |
|
Mydriasis, Aspiration, Abnormal autonomic nervous system physiology, Choreoathetosis, Respiratory... |
ORPHA:2131 |
| Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells |
ORPHA:65684 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Neonatal death |
OMIM:601612 |
| Congenital Lethal Erythroderma |
|
Respiratory insufficiency, Death in infancy, Urticaria |
ORPHA:1954 |
| Auriculocondylar Syndrome 2 |
|
Apnea, Snoring, Respiratory distress |
OMIM:614669 |
| Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea |
ORPHA:621 |
| Avian Influenza |
|
Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Miscarriage, Pleural effusion, D... |
ORPHA:454836 |
| Waardenburg Syndrome, Type 4A |
|
Aganglionic megacolon |
OMIM:277580 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Bronchospasm, Cardiorespiratory arrest, Abnormal pattern of respiration, Stridor |
OMIM:608800 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Respiratory failure, Paroxysmal dyspnea, Stridor, Cyanosis |
ORPHA:444013 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Respiratory failure |
ORPHA:370968 |
| Boucher-Neuhauser Syndrome |
|
Decreased circulating gonadotropin concentration, Cerebellar atrophy, Spinocerebellar atrophy, Hy... |
OMIM:215470 |
| Joubert Syndrome 30 |
|
Apnea, Tachypnea |
OMIM:617622 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Apnea |
OMIM:616896 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Retinal infarction, Mydriasis, Tachypnea |
OMIM:613834 |
| Myoclonus, Intractable, Neonatal |
|
Apnea |
OMIM:617235 |
| Dermotrichic Syndrome |
|
Aganglionic megacolon |
ORPHA:99688 |
| Larsen-Like Syndrome, Lethal Type |
|
Respiratory insufficiency, Tracheomalacia, Neonatal death |
OMIM:245650 |
| Paragangliomas 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Hyperekplexia 3 |
|
Apnea, Respiratory arrest |
OMIM:614618 |
| Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Neonatal death, Death in infancy, Respiratory insufficiency due to muscle weakness |
OMIM:617184 |
| Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Death in infancy, Respiratory distress, Respiratory failure, Tachypnea |
OMIM:614299 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy |
OMIM:619386 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| 2Q24 Microdeletion Syndrome |
|
Central apnea |
ORPHA:1617 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Molar tooth sign on MRI, Aganglionic megacolon, Hydrocephalus, Cerebellar vermis h... |
ORPHA:220493 |
| Ciliary Dyskinesia, Primary, 24 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Chronic pulmon... |
OMIM:615481 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology, Peripheral demyelination |
DECIPHER:59 |
| Neuroblastoma, Susceptibility To, 2 |
|
Aganglionic megacolon, Ganglioneuroma |
OMIM:613013 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Aganglionic megacolon, Ventriculomegaly, Cleft palate |
ORPHA:66629 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure |
OMIM:616867 |
| Waardenburg-Shah Syndrome |
|
Aganglionic megacolon, Abnormal intestine morphology, Intestinal obstruction |
ORPHA:897 |
| Restrictive Dermopathy 2 |
|
Cyanosis, Respiratory distress |
OMIM:619793 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Apnea, Dyspnea, Hyperventilation |
OMIM:229700 |
| Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Dyspnea, Respiratory distress, Tachypnea |
OMIM:267450 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Resp... |
ORPHA:264675 |
| Ciliary Dyskinesia, Primary, 3 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress,... |
OMIM:608644 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Central apnea |
ORPHA:320385 |
| Ciliary Dyskinesia, Primary, 23 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Productive cough, R... |
OMIM:615451 |
| Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Decreased corneal thickness, Iris transill... |
OMIM:309300 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea |
OMIM:619048 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Mydriasis, Optic atrophy, Respiratory failure, Optic disc pallor, Facial palsy |
OMIM:259720 |
| Leigh Syndrome |
|
Respiratory insufficiency, Abnormal pattern of respiration, Respiratory failure |
OMIM:256000 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Malabsorption, Aganglionic megacolon, Ventriculomegaly |
ORPHA:452 |
| Attrv122I Amyloidosis |
|
Abnormal autonomic nervous system physiology, Abnormality of enteric nervous system morphology |
ORPHA:85451 |
| Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle, Miosis |
OMIM:156600 |
| Arnold-Chiari Malformation Type Ii |
|
Meningocele, Cyanosis, Myelomeningocele, Aqueductal stenosis, Hydrocephalus, Brain stem compressi... |
ORPHA:1136 |
| Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
| Congenital Left Ventricular Aneurysm |
|
Apnea |
ORPHA:1055 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Central sleep apnea, Obstructive sleep apnea |
ORPHA:70472 |
| Alexander Disease Type Ii |
|
Abnormal autonomic nervous system physiology, Cervical spinal cord atrophy, Abnormal medulla oblo... |
ORPHA:363722 |
| Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Asthma, Emphysema, Cough |
ORPHA:1164 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, D... |
ORPHA:60032 |
| Leukodystrophy, Hypomyelinating, 4 |
|
Apnea |
OMIM:612233 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy |
OMIM:610006 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea |
OMIM:615031 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Apnea, Death in childhood |
OMIM:611523 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
| Immunodeficiency 54 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:609981 |
| Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Respiratory insufficiency, Dyspnea |
OMIM:606842 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Death in infancy |
OMIM:610678 |
| Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Congenital laryngeal stridor |
ORPHA:2254 |
| Cocaine Intoxication |
|
Pneumothorax, Mydriasis, Respiratory distress, Tremor, Hyperventilation, Cough, Wheezing, Tachypnea |
ORPHA:90068 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Amyotrophic lateral ... |
OMIM:606070 |
| Cystic Hamartoma Of Lung And Kidney |
|
Respiratory insufficiency |
ORPHA:2111 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy, Respiratory failure... |
OMIM:605711 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Respiratory failure, Ventilator dependence with inability to wean, Inspiratory stridor, Tachypnea |
OMIM:604320 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon |
ORPHA:1438 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Respiratory insufficiency, Apnea |
OMIM:618226 |
| Hyperekplexia 1 |
|
Apnea, Aspiration |
OMIM:149400 |
| Illum Syndrome |
|
Apnea |
OMIM:208155 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Parathyroid adenoma, Increased circulating cortisol level, Aganglionic megacolon, Pheochromocytom... |
OMIM:171400 |
| Neurological Conditions Associated With Aminoacylase 1 Deficiency |
|
Apnea |
ORPHA:137754 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:615330 |
| Pseudo-Torch Syndrome 3 |
|
Respiratory insufficiency, Apnea, Death in infancy |
OMIM:618886 |
| Nemaline Myopathy 2 |
|
Apnea, Respiratory insufficiency due to muscle weakness |
OMIM:256030 |
| Pulmonary Hemosiderosis |
|
Respiratory insufficiency |
OMIM:178550 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Dyspnea, Exertional dyspnea |
OMIM:614370 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:2759 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Decreased nerve conduction velocity |
ORPHA:101082 |
| Congenital Tracheomalacia |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Tracheobronchomalacia, Cyanosis, Pneu... |
ORPHA:95430 |
| Niemann-Pick Disease, Type C2 |
|
Respiratory insufficiency, Death in infancy, Jaundice, Respiratory failure, Prolonged neonatal ja... |
OMIM:607625 |
| Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
| Hec Syndrome |
|
Abnormal pupil morphology, Respiratory insufficiency, Developmental cataract, Abnormal retinal va... |
ORPHA:2119 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea, Cyanosis |
OMIM:261680 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory failure, Dyspnea, Respiratory insufficiency due to muscle weakness |
ORPHA:352447 |
| Leigh Syndrome With Leukodystrophy |
|
Apnea |
ORPHA:255241 |
| Prader-Willi Syndrome |
|
Cutaneous photosensitivity, Sleep apnea, Hypoventilation |
OMIM:176270 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Respiratory insufficiency |
OMIM:160565 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Respiratory insufficiency, Death in childhood, Death in adolescence, Death in infancy |
OMIM:618042 |
| Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Restrictive ventilatory defect, Dyspnea, Cough, Respiratory failure |
ORPHA:99931 |
| X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Abnormal macular morphology, Ocular albinism, Iris hypopigmentation, A... |
ORPHA:54 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Death in infancy |
OMIM:614862 |
| Norrie Disease |
|
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Retinal dysplasia, Buphthalmos, ... |
OMIM:310600 |
| Myotonia, Potassium-Aggravated |
|
Apneic episodes in infancy, Stridor |
OMIM:608390 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure |
OMIM:613954 |
| Criss-Cross Heart |
|
Respiratory insufficiency, Cyanosis |
ORPHA:1461 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Respiratory insufficiency, Hypoventilation |
ORPHA:99949 |
| Folinic Acid-Responsive Seizures |
|
Apnea, Respiratory distress |
ORPHA:79097 |
| Joubert Syndrome 7 |
|
Neonatal breathing dysregulation, Episodic tachypnea, Tachypnea, Central apnea |
OMIM:611560 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Ventriculomegaly, Aganglionic megacolon, Anal atresia, Peripheral pulmonary artery stenosis, Clef... |
OMIM:614749 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Respiratory failure, Obstructive sleep apnea, Stridor, Intercostal muscle weakness |
OMIM:606071 |
| Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
| Snakebite Envenomation |
|
Respiratory paralysis, Ecchymosis, Epistaxis, Erythema, Respiratory failure, Angioedema |
ORPHA:449285 |
| Chronic Beryllium Disease |
|
Respiratory insufficiency, Abnormal respiratory system physiology, Dyspnea, Cough, Lymphocytic in... |
ORPHA:133 |
| Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Cyanosis, Exertional dyspnea, Hemothorax, Hypoxemia, Pleural ... |
ORPHA:199241 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Apnea |
OMIM:614883 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Aganglionic megacolon |
ORPHA:2151 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
| Waardenburg Syndrome, Type 3 |
|
Aganglionic megacolon |
OMIM:148820 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon |
ORPHA:261222 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
| Developmental And Epileptic Encephalopathy 101 |
|
Apnea |
OMIM:619814 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Respiratory insufficiency, Jaundice, Apnea |
OMIM:608093 |
| Piebald Trait |
|
Aganglionic megacolon |
OMIM:172800 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis, Death in infancy, Respiratory distress, Apnea, Hypopnea, Neonatal respiratory distress,... |
OMIM:618426 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Respiratory insufficiency, Apnea, Hypercapnia, Apneic episodes in infancy |
OMIM:618222 |
| Fryns Syndrome |
|
Gastroesophageal reflux, Abnormal aortic morphology, High palate, Ventriculomegaly, Ectopic anus,... |
ORPHA:2059 |
| Scedosporiosis |
|
Pleural empyema, Abnormal respiratory system physiology, Sinusitis, Cough, Respiratory failure, B... |
ORPHA:449280 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency, Death in infancy, Jaundice, Respiratory distress, Death in adolescence... |
OMIM:615512 |
| Developmental And Epileptic Encephalopathy 90 |
|
Apneic episodes in infancy |
OMIM:301058 |
| Multiple Endocrine Neoplasia Type 2 |
|
Ganglioneuromatosis, Parathyroid adenoma, Aganglionic megacolon, Parathyroid hyperplasia, Neoplas... |
ORPHA:653 |
| Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Cyanosis, Telangiectasia, Hemothorax, Pleural empyema, Hypoxemia... |
ORPHA:2038 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Apnea |
OMIM:619527 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Apnea, Facial erythema |
ORPHA:439218 |
| Arachnoid Cyst |
|
Cranial nerve compression, Mydriasis, Facial palsy |
ORPHA:2356 |
| Tracheal Agenesis |
|
Respiratory insufficiency |
ORPHA:3346 |
| Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Hypoxemia, Respiratory failure, Respiratory failure requiring assisted ventilation, Tac... |
ORPHA:555874 |
| Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
| Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Respiratory insufficiency |
ORPHA:147 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Apnea |
OMIM:619797 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure, Reduced subcutaneous adipose tissue |
ORPHA:363400 |
| Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Hypoventilation, Asthma, Cardiorespiratory arrest, Central hypoventilation, Obstructive... |
ORPHA:293987 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Hyperventilation |
OMIM:617903 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Peripheral demyelination, Lateral ventricle dilatation, A... |
OMIM:221770 |
| Igg4-Related Ophthalmic Disease |
|
Abnormality of the anterior pituitary, Abnormal fifth cranial nerve morphology, Thyroiditis, Colo... |
ORPHA:449563 |
| Congenital Myasthenic Syndrome |
|
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... |
ORPHA:98914 |
| Amyotrophic Lateral Sclerosis |
|
Respiratory failure, Abnormal respiratory system physiology, Dyspnea |
ORPHA:803 |
| Mercury Poisoning |
|
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress |
ORPHA:330021 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Death in childhood, Tachypnea |
OMIM:615838 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Apnea |
ORPHA:1129 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Apnea, Death in infancy |
OMIM:614498 |
| Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
| Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Respiratory failure, Restrictive ventilatory defect |
OMIM:606612 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Hypoplasia of the brainstem, Abno... |
ORPHA:370959 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Respiratory insufficiency, Apnea, Aspiration pneumonia, Bronchiectasis |
OMIM:618253 |
| Waardenburg Syndrome Type 1 |
|
Spina bifida, Aganglionic megacolon, Cleft palate |
ORPHA:894 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Respiratory insufficiency, Apnea |
OMIM:614462 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Elevated pulmonary artery pressure, Respiratory failure requiring assisted ventilation, Mydriasis |
OMIM:619351 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Central apnea |
OMIM:618291 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Apnea, Inspiratory stridor |
OMIM:600721 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Tracheomalacia, Jaundice, Hypoventilation |
OMIM:203700 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph... |
OMIM:221900 |
| Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, High palate, Aganglionic megacolon, Parathyroid hyperplasia, Nodular goiter,... |
OMIM:162300 |
| Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia |
OMIM:616437 |
| Spinocerebellar Ataxia Type 1 |
|
Abnormal nerve conduction velocity, Loss of Purkinje cells in the cerebellar vermis, Abnormality ... |
ORPHA:98755 |
| Nephronophthisis 2 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:602088 |
| Phacoanaphylactic Uveitis |
|
Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Anterior chamber flare grade 1+, Abn... |
ORPHA:209959 |
| Developmental And Epileptic Encephalopathy 99 |
|
Central apnea |
OMIM:619606 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Palmoplantar cutis laxa, Respiratory distress, Central apnea, Re... |
OMIM:616482 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Respiratory failure, Death in infancy |
ORPHA:1194 |
| Joubert Syndrome 17 |
|
Hyperventilation |
OMIM:614615 |
| American Trypanosomiasis |
|
Aganglionic megacolon, Achalasia |
ORPHA:3386 |
| Auriculocondylar Syndrome 1 |
|
Apnea, Snoring |
OMIM:602483 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormal motor neuron morphology, Hypergonadotropic hypogonadism |
OMIM:613724 |
| X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Ileus |
ORPHA:52503 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Aspiration pneumonia, Episodic tachypnea |
ORPHA:79264 |
| Myotonia Fluctuans |
|
Apnea, Stridor |
ORPHA:99734 |
| Pituitary Apoplexy |
|
Mydriasis |
ORPHA:95613 |
| Coach Syndrome 2 |
|
Apneic episodes in infancy |
OMIM:619111 |
| Ciliary Dyskinesia, Primary, 30 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficienc... |
OMIM:616037 |
| Pulmonary Alveolar Microlithiasis |
|
Respiratory insufficiency, Cyanosis, Pneumothorax, Exertional dyspnea, Bronchiectasis, Hypoxemia,... |
ORPHA:60025 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Isolated Right Ventricular Hypoplasia |
|
Dyspnea, Cyanosis, Hypoxemia |
ORPHA:439 |
| Fibrodysplasia Ossificans Progressiva |
|
Respiratory insufficiency, Respiratory failure |
OMIM:135100 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Respiratory failure, Death in infancy, Jaundice, Apnea, Hypopnea, Respiratory arrest, Neonatal death |
OMIM:617248 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Jaundice, Recurrent pneumonia, Respiratory failure, Spontaneous pneumothorax |
ORPHA:731 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Respiratory insufficiency, Cyanosis, Sudden episodic apnea |
ORPHA:159 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Abnormal autonomic nervous system physiology, Aganglionic megacolon, Absent brainstem auditory re... |
OMIM:609136 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Optic atrophy |
ORPHA:79279 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Simplified gyral pattern, Cyanotic episode, Lissencephaly, Cerebellar vermis hypoplasia |
ORPHA:284417 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Optic neuropathy, Mydriasis, Optic nerve compression, Optic atrophy |
OMIM:619727 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Respiratory distress |
OMIM:617895 |
| Primary Lateral Sclerosis |
|
Motor axonal neuropathy, Cervical spinal cord atrophy, Abnormal lower motor neuron morphology, At... |
ORPHA:35689 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Dysphagia |
ORPHA:275872 |
| Joubert Syndrome 8 |
|
Prolonged neonatal jaundice, Hyperventilation |
OMIM:612291 |
| Aniridia 1 |
|
Ectopia pupillae, Corneal erosion, Retinal vascular tortuosity, Hypoplasia of the iris, Corneal n... |
OMIM:106210 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Pleural effusion, Respiratory failure, Hypoxemia, Tachypnea |
ORPHA:542323 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
| Peripartum Cardiomyopathy |
|
Pulmonary arterial hypertension, Exertional dyspnea, Asthma, Crackles, Orthopnea, Dyspnea, Respir... |
ORPHA:563 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Bruising susceptibility |
ORPHA:3226 |
| Scorpion Envenomation |
|
Mydriasis, Tremor, Abnormal nasal mucus secretion, Miosis, Tachypnea |
ORPHA:466677 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Exertional dyspnea, Respiratory distress, Respiratory failure, Death in childhood, Respiratory in... |
OMIM:220110 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Hydrocephalus, Anteriorly placed anus, Cleft palate, Abnormal rectum morph... |
OMIM:239300 |
| Orofaciodigital Syndrome V |
|
Lobulated tongue, Bifid tongue, High palate, Aganglionic megacolon, Ankyloglossia, Bifid uvula, C... |
OMIM:174300 |
| Piebaldism |
|
Aganglionic megacolon |
ORPHA:2884 |
| Down Syndrome |
|
Hypothyroidism, Narrow palate, Aganglionic megacolon, Type II diabetes mellitus, Macroglossia, An... |
ORPHA:870 |
| Joubert Syndrome 3 |
|
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea |
OMIM:608629 |
| Boutonneuse Fever |
|
Respiratory failure, Petechiae |
ORPHA:83313 |
| Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Exertional dyspnea, Productive cough, Recurrent pneumonia, Upper airwa... |
ORPHA:3348 |
| Machado-Joseph Disease Type 3 |
|
Dilated fourth ventricle, Degeneration of anterior horn cells, Substantia nigra gliosis, Abnormal... |
ORPHA:276244 |
| Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract |
OMIM:619649 |
| Pontocerebellar Hypoplasia Type 2 |
|
Apnea |
ORPHA:2524 |
| Atypical Rett Syndrome |
|
Abnormal pattern of respiration, Sudden episodic apnea, Episodic tachypnea |
ORPHA:3095 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Motor axonal neuropathy, Optic atrophy |
OMIM:614298 |
| Spinocerebellar Ataxia 1 |
|
Dilated fourth ventricle, Spinocerebellar tract degeneration, Optic atrophy, Decreased motor nerv... |
OMIM:164400 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Respiratory failure, Pulmonary arterial hypertension |
OMIM:613845 |
| Waardenburg Syndrome |
|
Aganglionic megacolon, Intestinal obstruction, Aplasia/Hypoplasia of the colon, Abnormality of th... |
ORPHA:3440 |
| Metatropic Dysplasia |
|
Respiratory insufficiency, Respiratory failure |
OMIM:156530 |
| Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Cyanosis, Intercostal retractions, Crackles, Recurrent pneumo... |
ORPHA:1329 |
| Primary Ciliary Dyskinesia |
|
Respiratory failure, Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinitis, Airwa... |
ORPHA:244 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Respiratory failure, Death in childhood, Bradypnea |
OMIM:617186 |
| Rett Syndrome |
|
Intermittent hyperventilation, Apnea |
OMIM:312750 |
| Hypophosphatasia, Infantile |
|
Apnea, Stillbirth, Death in infancy |
OMIM:241500 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Respiratory distress, Respiratory failure, Respiratory failure requiri... |
ORPHA:308552 |
| Sepsis In Premature Infants |
|
Cyanosis, Petechiae, Nasal flaring, Jaundice, Abnormal respiratory system physiology, Purpura, Dy... |
ORPHA:90051 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:2707 |
| Thymoma, Familial |
|
Respiratory insufficiency |
OMIM:274230 |
| Fatal Familial Insomnia |
|
Apnea |
OMIM:600072 |
| Paragangliomas 1 |
|
Glomus jugular tumor, Elevated circulating catecholamine level, Glomus tympanicum paraganglioma, ... |
OMIM:168000 |
| Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Decreased motor nerve conduction velocity, Paucity of anter... |
ORPHA:79139 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure |
OMIM:616505 |
| 48,Xxyy Syndrome |
|
Asthma, Apnea |
ORPHA:10 |
| Radio-Renal Syndrome |
|
Respiratory distress, Pleural effusion, Dyspnea, Chylothorax, Respiratory failure |
ORPHA:3015 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Dysphagia |
OMIM:607225 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Machado-Joseph Disease |
|
Dilated fourth ventricle, Abnormal autonomic nervous system physiology, Dysphagia, Cerebellar atr... |
OMIM:109150 |
| Congenital Alveolar Capillary Dysplasia |
|
Volvulus, Aganglionic megacolon, Anal atresia, Duodenal stenosis, Tracheoesophageal fistula, Inte... |
ORPHA:210122 |
| Familial Visceral Myopathy |
|
Aganglionic megacolon, Hyperparathyroidism, Cleft palate |
ORPHA:2604 |
| Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea |
OMIM:314580 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Apnea |
OMIM:210200 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Aspiration pneumonia, Central sleep apnea, Breathing dysregulation, Apnea, Obstr... |
ORPHA:438213 |
| Persistent Hyperplastic Primary Vitreous |
|
Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Macular hypoplasia, L... |
ORPHA:91495 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Respiratory distre... |
ORPHA:348 |
| Ramos-Arroyo Syndrome |
|
Xerostomia, Abnormal autonomic nervous system physiology, Aganglionic megacolon, Smooth tongue |
ORPHA:1051 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
| Gaucher Disease, Type Ii |
|
Recurrent aspiration pneumonia, Death in infancy, Apnea, Cough, Stridor |
OMIM:230900 |
| Sandestig-Stefanova Syndrome |
|
Respiratory failure |
OMIM:618804 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Apnea, Respiratory failure |
OMIM:617301 |
| Orofaciodigital Syndrome Type 5 |
|
Bifid tongue, Cleft soft palate, Aganglionic megacolon, Bifid uvula, High, narrow palate |
ORPHA:2919 |
| Propionic Acidemia |
|
Apnea, Tachypnea |
OMIM:606054 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Death in childhood |
OMIM:619847 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Apnea |
ORPHA:79644 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Aganglionic megacolon, Ileus |
OMIM:300352 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Hyperventilation |
OMIM:614325 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Respiratory failure, Pneumonia, Abnormal respiratory system physiology |
ORPHA:98905 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Apnea |
OMIM:612949 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Apnea, Cutis marmorata, Death in infancy |
OMIM:602613 |
| Lymphatic Malformation 12 |
|
Neonatal respiratory distress, Neonatal death, Death in adolescence |
OMIM:620014 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Simplified gyral pattern, Acrocyanosis, Cerebellar hypoplasia |
OMIM:614407 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Hypoxemia, Tachypnea |
ORPHA:860 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Apnea, Jaundice, Death in childhood |
OMIM:214110 |
| Orofaciodigital Syndrome Xvi |
|
Apnea |
OMIM:617563 |
| Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Hypoplasia of the brainstem |
OMIM:609460 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Aganglionic megacolon, Bifid uvula, High palate, Anteriorly placed anus |
ORPHA:247262 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Gastroesophageal reflux, Optic atrophy, Volvulus, Aganglionic megacolon, Macroglossia |
ORPHA:847 |
| Geleophysic Dysplasia 3 |
|
Respiratory failure, Sleep apnea, Pneumonia, Dyspnea |
OMIM:617809 |
| Paragangliomas 3 |
|
Glomus jugular tumor, Elevated circulating catecholamine level, Chemodectoma, Paraganglioma, Extr... |
OMIM:605373 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Apnea |
OMIM:300055 |
| Cartilage-Hair Hypoplasia |
|
Malabsorption, Aganglionic megacolon, Anal stenosis, Esophageal atresia |
OMIM:250250 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:609015 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Aspiration, Apnea, Erythema, Stridor, Neonatal respiratory distress |
OMIM:614653 |
| Tetrasomy 5P |
|
Pulmonary arterial hypertension, Cyanosis, Respiratory distress |
ORPHA:3309 |
| Atrial Septal Defect, Ostium Primum Type |
|
