| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Apnea, Anorexia |
ORPHA:99852 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Crescentic glomerulonephritis, Restrictive ventilatory defect, Cough, Decreas... |
OMIM:616414 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Respiratory failure, Cough, Tubulointerstitial fibrosis |
OMIM:263000 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Low-set ears |
ORPHA:436151 |
| Joubert Syndrome 23 |
|
Sensorineural hearing impairment, Tachypnea, Apnea |
OMIM:616490 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... |
OMIM:300770 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Hyperglycinuria, EEG abnormality, Prolinuria, Hydroxyprolinur... |
OMIM:239500 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia |
OMIM:619970 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Joubert Syndrome 7 |
|
Central apnea, Episodic tachypnea, Tachypnea, Stage 5 chronic kidney disease, Renal cyst, Nephron... |
OMIM:611560 |
| Methionine Malabsorption Syndrome |
|
Aminoaciduria, Tachypnea |
OMIM:250900 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Tachypnea, Polyphagia |
OMIM:620085 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Tongue thrusting, EEG abnormalit... |
ORPHA:3095 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Hypsarrhythmia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Cardiomyopathy, Dilated, 2H |
|
Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
| Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Tachypnea |
OMIM:245050 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
| Mannosidosis, Beta A, Lysosomal |
|
Increased urinary disaccharide excretion, Hyperactivity, Hearing impairment, Aggressive behavior |
OMIM:248510 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... |
ORPHA:178320 |
| Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Ureteral stenosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxem... |
ORPHA:2257 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Urinary incontinence, Decreased nerve conduction velocity, Tachypnea, Respiratory failure, Inspir... |
OMIM:604320 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... |
OMIM:617519 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
| Tetanus |
|
Respiratory distress, Elevated urinary norepinephrine level, Tachypnea, Elevated urinary epinephr... |
ORPHA:3299 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, EEG with generalized epileptifo... |
OMIM:619827 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Optic disc pallor, Apnea, Episodic tachypnea, Aspiration pneumonia, D... |
ORPHA:79264 |
| Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... |
ORPHA:217563 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria |
OMIM:605899 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
| Joubert Syndrome 9 |
|
Apnea, Stage 5 chronic kidney disease, Episodic tachypnea |
OMIM:612285 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Organic aciduria, Tachypnea, Anorexia |
ORPHA:79242 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Posteriorly rotated ears, Episodic tachypnea, Apneic episodes in infancy, Low-set ears, Dysphagia |
ORPHA:163961 |
| Lennox-Gastaut Syndrome |
|
EEG abnormality, Hyperactivity, EEG with focal sharp slow waves, Aggressive behavior |
ORPHA:2382 |
| Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
| Athabaskan Brainstem Dysgenesis Syndrome |
|
Sensorineural hearing impairment, Central hypoventilation |
OMIM:601536 |
| Joubert Syndrome 3 |
|
Central apnea, Episodic tachypnea, Stage 5 chronic kidney disease, Nephronophthisis, Low-set ears... |
OMIM:608629 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Tachypnea, Optic atrophy, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... |
ORPHA:52368 |
| Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... |
ORPHA:98818 |
| Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
EEG abnormality, Apnea, Central hypoventilation, Respiratory insufficiency |
OMIM:300673 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, EEG abnormality, Low-set ears, Bruxism, Abnormal repetiti... |
OMIM:618718 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... |
OMIM:265120 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... |
OMIM:610921 |
| Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Respiratory insufficiency, Inappropriate behavior, Disi... |
OMIM:168605 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Low-set, posteriorly rotated ears, Hypospadias, Episodic tachypnea, Low-set ears, Micropenis |
ORPHA:2872 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea |
OMIM:616501 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:615541 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity disorder, Ab... |
OMIM:610042 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Multifocal Atrial Tachycardia |
|
Dyspnea, Tachypnea |
ORPHA:3282 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Intermittent hyperventilation, Aggressive behavior, EEG with generalized polyspike... |
ORPHA:163681 |
| Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisovaleric ... |
OMIM:253270 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Respiratory failure, Tachypnea |
OMIM:615838 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Tachypnea, Homocystinuria, Methylmalonic aciduria |
OMIM:614857 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Propionic Acidemia |
|
Tachypnea, Apnea, Increased level of hippuric acid in urine, Hyperglycinuria |
OMIM:606054 |
| Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
| Joubert Syndrome With Oculorenal Defect |
|
Low-set, posteriorly rotated ears, Renal insufficiency, Apnea, Aganglionic megacolon, Tachypnea, ... |
ORPHA:2318 |
| Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Polyuria, Dyspnea, Tachypnea, Hypercalciuria, Aminoaciduria, Polydipsia |
OMIM:239200 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Episodic tachypnea |
OMIM:615160 |
| Serotonin Syndrome |
|
Restlessness, Tachypnea, Agitation, Abnormality of the autonomic nervous system, Acute kidney injury |
ORPHA:43116 |
| Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Tachypnea |
ORPHA:765 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Tachypnea, Microtia, Low-set ears |
OMIM:613320 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Apnea, Central hypoventilation, Optic atrophy, Respiratory failure, Dysphagia |
OMIM:618233 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Acute kidney injury, Decreased urine... |
ORPHA:542323 |
| Joubert Syndrome 1 |
|
Central apnea, Optic disc pallor, Hyperactivity, Episodic tachypnea, Aggressive behavior, Optic d... |
OMIM:213300 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Respiratory arrest, Dicarboxylic aciduria, Tachypnea, Exercise-induced myoglobinuria |
OMIM:201475 |
| Citrullinemia Type I |
|
Tachypnea |
ORPHA:247525 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation |
OMIM:257500 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Hypoventilation, Apnea, Facial palsy, Stridor, Dysphagia |
OMIM:617143 |
| Postpoliomyelitis Syndrome |
|
Hypoventilation, Respiratory insufficiency, Dysphagia |
ORPHA:2942 |
| Beta-Ketothiolase Deficiency |
|
Ketonuria, Anorexia, Tachypnea, Agitation, Cough, Oral aversion |
ORPHA:134 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Increased urinary glycerol, Intermittent hyperventilation, Episodic tachypn... |
ORPHA:348 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... |
OMIM:301013 |
| Biotinidase Deficiency |
|
Apnea, Sensorineural hearing impairment, Tachypnea, Optic atrophy, Organic aciduria |
OMIM:253260 |
| Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Aggressive behavior, Impaired renal concentrating ability, Sta... |
OMIM:610188 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... |
ORPHA:206443 |
| Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, T... |
ORPHA:60025 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Facial palsy, Abnormal pattern of respiration, Tachypnea, Episodic respirato... |
ORPHA:31826 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Chronic Bilirubin Encephalopathy |
|
Central apnea, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Central apnea, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Apnea, Anorexia, Tachypnea, Hypsarrhythmia, EEG abnormality, 3-Methylglutaric aciduria |
ORPHA:20 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Posteriorly rotated ears, Aganglion... |
OMIM:209880 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Nocturnal hypoventilation |
OMIM:616470 |
| Arima Syndrome |
|
Proteinuria, Polyuria, Dyspnea, Tachypnea, Optic atrophy, Stage 5 chronic kidney disease, Hematur... |
OMIM:243910 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial palsy, Hearing i... |
OMIM:211530 |
| Joubert Syndrome |
|
Aganglionic megacolon, Apnea, Episodic tachypnea, Low-set ears, Abnormal pattern of respiration |
ORPHA:475 |
| Cholera |
|
Abnormality of renal excretion, Tachypnea, Aspiration pneumonia, Acute kidney injury, Decreased u... |
ORPHA:173 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
| Coronary Arterial Fistula |
|
Orthopnea, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea |
ORPHA:2041 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Low-set, posteriorly rotated ears, Renal insufficiency, Hypospadias, Apnea, Tachypnea, Renal cort... |
ORPHA:397715 |
| Cocaine Intoxication |
|
Respiratory distress, Proteinuria, Glomerulonephritis, Wheezing, Tachypnea, Pneumothorax, Hematur... |
ORPHA:90068 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Hypoventilation, Breathing dysregulation |
OMIM:618232 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Tachypnea, Lacticaciduria, Elevated urine acet... |
OMIM:615751 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea |
ORPHA:26793 |
| Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... |
ORPHA:1329 |
| Joubert Syndrome 2 |
|
Central apnea, Renal insufficiency, Episodic tachypnea, Optic disc coloboma, Renal cyst, Nephrono... |
OMIM:608091 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... |
OMIM:618314 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Respiratory failure, Vestibular areflexia |
ORPHA:3240 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... |
ORPHA:99027 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Absent brainstem auditory responses, Apnea, Sensorineural ... |
ORPHA:79330 |
| Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea |
ORPHA:555874 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Tachypnea |
ORPHA:860 |
| Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... |
ORPHA:206436 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, EEG abnormality, Aspiration pn... |
ORPHA:314655 |
| Pyruvate Carboxylase Deficiency |
|
Anorexia, Tachypnea, Lacticaciduria, Compulsive behaviors, Abnormal temper tantrums, Recurrent ha... |
ORPHA:3008 |
| Double Outlet Right Ventricle |
|
Abnormality of cartilage of external ear, Tachypnea |
ORPHA:3426 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Renal insufficiency, Sinusitis, Glomerulonephritis, Pneumonia, Tachypnea |
ORPHA:36234 |
| Atrial Septal Defect, Ostium Primum Type |
|
Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmonary arteria... |
ORPHA:99106 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Tachypnea |
OMIM:615934 |
| Malignant Hyperthermia Of Anesthesia |
|
Myoglobinuria, Acute kidney injury, Tachypnea, Hypercapnia |
ORPHA:423 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Urinary incontinence,... |
ORPHA:101085 |
| 47,Xyy Syndrome |
|
Hyperactivity, Hypospadias, Impulsivity, Asthma, Attention deficit hyperactivity disorder, Low-se... |
ORPHA:8 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Urinary incontinence, Sensorineural hearing impairment, Urinary urgency, Urinary h... |
OMIM:609727 |
| Haddad Syndrome |
|
Aganglionic megacolon, Central hypoventilation, Breathing dysregulation, Sensorineural hearing im... |
ORPHA:99803 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Rh Deficiency Syndrome |
|
Hypoxemia, Tachypnea |
ORPHA:71275 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Crackles, Cough, Increased DLC... |
OMIM:233450 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Facial palsy, Respiratory i... |
ORPHA:98915 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Tachypnea |
OMIM:613834 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
| Histiocytoid Cardiomyopathy |
|
Tachypnea, Optic atrophy, Renal cyst, Cough |
ORPHA:137675 |
| Orofaciodigital Syndrome Type 6 |
|
Conductive hearing impairment, Apnea, Episodic tachypnea, Low-set, posteriorly rotated ears |
ORPHA:2754 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality, Urinary incontinence |
ORPHA:206448 |
| Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Aggressive behavior, Decreased nerve cond... |
ORPHA:909 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Urinary incontinence, Hypopnea, Restrictive ventilatory defect, Aspiratio... |
OMIM:619482 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Optic atrophy, Macrotia, A... |
ORPHA:90321 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation, Sensorineural hearing impairment, EEG with burst suppression, Optic atrophy |
OMIM:606056 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hypoventilation, EEG with abnormally slow frequencies, Recurrent pneumonia, Optic atrophy, EEG wi... |
OMIM:618493 |
| Scorpion Envenomation |
|
Restlessness, Ketonuria, Tachypnea, Glycosuria, Abnormal nasal mucus secretion, Acute kidney injury |
ORPHA:466677 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory failure, Tachypnea, Respiratory insufficiency |
OMIM:618278 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoventilation, Sensorineural hearing impairment |
OMIM:620275 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Oroticaciduria, Tachypnea |
ORPHA:415 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Hyperactivity, Low-set ears, Aggressive behavior |
ORPHA:401973 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema |
OMIM:613658 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Facial palsy, Respiratory insufficiency, Dysphagia, Pulmonary arterial hypertens... |
ORPHA:258 |
| Rabin-Pappas Syndrome |
|
Hypoventilation, Optic nerve hypoplasia, Conductive hearing impairment, Sensorineural hearing imp... |
OMIM:620155 |
| Exercise-Induced Malignant Hyperthermia |
|
Crackles, Tachypnea, Oliguria, Hypocapnia, Acute kidney injury |
ORPHA:466650 |
| Orofaciodigital Syndrome Type 2 |
|
Conductive hearing impairment, Tachypnea, Apnea, Protruding ear |
ORPHA:2751 |
| Histidinemia |
|
Histidinuria, Hyperactivity |
ORPHA:2157 |
| Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evoked potentials,... |
OMIM:133540 |
| Cockayne Syndrome A |
|
Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evoked potentials,... |
OMIM:216400 |
| Double Outlet Left Ventricle |
|
Tachypnea |
ORPHA:3427 |
| Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Hypoventilation, Sensorineural hearing impairment, Opt... |
ORPHA:99949 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Central hypoventilation, Aggressive behavior, Asthma, Sensorineural hearing impa... |
ORPHA:293987 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Tachypnea, Low-set ears, Dysphagia |
OMIM:220111 |
| Bethlem Myopathy |
|
Hypoventilation, Reduced maximal expiratory pressure |
ORPHA:610 |
| Prader-Willi Syndrome |
|
Hypoventilation, Self-injurious behavior, Attention deficit hyperactivity disorder, Micropenis, P... |
OMIM:176270 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Renal insufficiency, Spontaneous pneumothorax, Recurrent pneumonia, Stage 5 chro... |
ORPHA:731 |
| Truncus Arteriosus |
|
Tachypnea |
ORPHA:3384 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Optic disc pallor, Apnea, Breathing dysregulation, Nephrolithiasis, Aspiration p... |
ORPHA:438213 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hypoventilation, Aciduria, 3-Methylglutaconic aciduria, Ethylmalonic aciduria, Tracheomalacia |
OMIM:203700 |
