Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

p95Cat,  Cat-1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Git1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Git1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Depre... ORPHA:280397
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Cholesterol Pneumonia
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis OMIM:215030
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Death in infancy, Desquamative interstitial pneumonitis, Tachypnea... OMIM:265120
Asbestos Intoxication
Wheezing, Right ventricular failure, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea,... ORPHA:2302
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Death in infancy, Desquamative interstitial pneumonitis, Nonspecif... OMIM:610921
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Bronchopulmonary Dysplasia
Wheezing, Right ventricular failure, Central apnea, Hyperoxemia, Abnormal respiratory system phys... ORPHA:70589
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Recurrent upper re... OMIM:263000
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Huntington Disease-Like 2
Dementia, Weight loss, Apathy, Irritability, Anxiety, Depression OMIM:606438
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Bradycardia, Tachycardia, Respiratory tract infection, Pulmonary... ORPHA:70587
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Motor deterioration, Apathy, Frontotemporal dementia, Anxiety, ... ORPHA:412066
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Pleural Mesothelioma
Abnormal respiratory system physiology, Cough, Respiratory distress, Abnormal cardiovascular syst... ORPHA:50251
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Cognitive impairment, Bronchiolitis OMIM:615993
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality ORPHA:436151
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Dysmetria, Focal dystonia, Progressive cerebellar ataxia,... OMIM:605361
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
Immunodeficiency 8
Hyperactivity OMIM:615401
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Tricuspid regurgitation, P... ORPHA:2414
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Respiratory distress,... ORPHA:1302
Recurrent Respiratory Papillomatosis
Wheezing, Syncope, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respi... ORPHA:60032
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Subpleural honeycombing, Hypertension, Crac... ORPHA:79126
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Hypoxemia, Pulmonary capillary hemangiomatosis, Interlobular septal th... ORPHA:199241
Juvenile Huntington Disease
Dystonia, Dementia, Chorea, Weight loss, Bradykinesia, Hyperactivity, Progressive cerebellar atax... ORPHA:248111
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Lung abscess, Pneumonia, Cough, Cyanosis, Recurrent respiratory infections, Decreased ... OMIM:610910
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Tachycardia, Respiratory distress, A... ORPHA:264675
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions ORPHA:137935
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism, Warfarin-induced skin necrosis OMIM:176860
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiolitis obliterans, Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, B... ORPHA:1303
Tracheopathia Osteoplastica
Wheezing, Dyspnea, Recurrent pneumonia, Cough OMIM:189961
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Respiratory distress, Cyanosis, Low-output congestive heart failure ORPHA:91130
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... OMIM:178500
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Pulmonary Arteriovenous Malformation
Hypoxemia, Telangiectasia, Palpitations, Epistaxis, Pulmonary arterial hypertension, Cough, Pulmo... ORPHA:2038
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... ORPHA:140896
Gaucher Disease Type 2
Abnormal pattern of respiration, Cough, Respiratory distress, Cardiac arrest, Recurrent respirato... ORPHA:77260
Childhood Disintegrative Disorder
Dementia, Motor deterioration, Social and occupational deterioration, Mental deterioration, Anxie... ORPHA:168782
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... OMIM:267450
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Cognitive impairment, Apathy, Anxiety, Depression OMIM:615483
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Cough, Aspiration, Recurrent respiratory infections, Cyan... ORPHA:2004
Lennox-Gastaut Syndrome
Falls, EEG with focal sharp slow waves, Hyperactivity, EEG abnormality, Mental deterioration ORPHA:2382
Acute Lung Injury
Shock, Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial mor... ORPHA:178320
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Attention deficit hyperactivity disorder, Difficulty wal... OMIM:619191
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Cough, Decreased DLCO, Pulm... OMIM:234810
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Pulmonary insufficiency, Atelectasis, Pneumothorax, Pulmonary arterial hyper... ORPHA:70588
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hypoxemia, Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Respiratory distress, Prolon... ORPHA:238459
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... ORPHA:99103
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Dystonia, Hyperactivity, Ataxia OMIM:615924
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Neonatal respiratory distress OMIM:266100
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal respiratory system physiology, Third heart sound, Exertional dyspnea, Abnormall... ORPHA:99106
Staphylococcal Necrotizing Pneumonia
Shock, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Pulmonary pneumatocele, Cough, Pleural empy... ORPHA:36238
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions, Reduced for... ORPHA:91359
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Apnea, ... ORPHA:2257
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Hypoxemia, Honeycomb lung, Chronic pulmonary obstruction, Chronic bronchitis, Bronchiec... ORPHA:79127
Landau-Kleffner Syndrome
EEG with temporal focal spikes, Steppage gait, EEG with generalized epileptiform discharges, Soci... ORPHA:98818
Heparin-Induced Thrombocytopenia
Myocardial infarction, Pulmonary embolism, Cerebral ischemia, Abnormal onset of bleeding ORPHA:3325
Idiopathic Bronchiectasis
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... ORPHA:60033
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Cough, Pulmonary hemorrhage, A... OMIM:616414
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Pneumonia, Systolic heart murmur, Palpit... ORPHA:99104
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:254875
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Respiratory distress OMIM:614399
Complete Atrioventricular Septal Defect
Wheezing, Right ventricular failure, Left-to-right shunt, Abnormal P wave, Crackles, Systolic hea... ORPHA:1329
Perching Syndrome
Respiratory distress OMIM:617055
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Respiratory distress, Death in infancy OMIM:604377
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Elevated bronchoalveolar... OMIM:610978
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:254210
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Restrictive ventilatory defect, Hypoxemia, Subpleural interstitial thi... ORPHA:60025
Hyperprolinemia, Type I
Hyperactivity, Ataxia, EEG abnormality OMIM:239500
Cln5 Disease
Dysmetria, EEG with generalized slow activity, Multifocal epileptiform discharges, Hyperactivity,... ORPHA:228360
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Tachypnea, Supraventricular tachycardia, Abnorma... ORPHA:45452
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age ORPHA:85288
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Respiratory distres... ORPHA:411703
Acquired Methemoglobinemia
Hypoxemia, Syncope, Palpitations, Tachycardia, Respiratory distress, Cyanosis, Dyspnea, Arrhythmia ORPHA:464453
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Cough, Cyanosis, Decreased DLCO, Restrictive ventilato... ORPHA:747
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Interlobular septal thickening, Elevated jugular venous pressure, Pul... OMIM:265450
Familial Nasal Acilia
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Recurrent upper respir... ORPHA:922
Rasmussen Subacute Encephalitis
Increased theta frequency activity in EEG, Hemidystonia, EEG with focal epileptiform discharges, ... ORPHA:1929
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Paroxysmal dyspnea, Stridor, Cognitive impairment, Cyanosis, Congest... ORPHA:444013
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:605809
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Continuous spike and waves during slow s... OMIM:301008
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Erythema, Upper airway obstruction, Respiratory distress, Abnormal capillary physiology ORPHA:100057
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea OMIM:613490
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Choanal Atresia
Chronic sinusitis, Upper airway obstruction, Respiratory distress, Cyanosis, Abnormal nasal mucus... ORPHA:137914
Respiratory distress, Cognitive impairment ORPHA:673
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis OMIM:612336
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Mental deterioration, Respiratory distress, Memory impairment ORPHA:240085
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Apnea, Decreased peak expiratory flow, Emphysema, Respir... ORPHA:95430
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with focal epileptiform discharges, Chorea, EEG with generalized epileptiform disch... ORPHA:88616
Laryngeal Web, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Stridor OMIM:150360
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Pulmonary hypoplasia, Respiratory insufficiency, Neonatal death, Tracheo... OMIM:245650
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Progressive Supranuclear Palsy
Dystonia, Dementia, Cognitive impairment, Falls, Bradykinesia, Abnormal synaptic transmission, Un... ORPHA:683
Nipah Virus Disease
Recurrent pharyngitis, Respiratory distress, Cough, Hypotension ORPHA:99825
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Neonatal death, Pulmonary arterial hypertension, Cardiomyopathy, P... OMIM:619003
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Hyperactivity, Gait ataxia, Small for gestational age OMIM:609425
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia, Hypertension OMIM:616733
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Cyanosis, Orthopnea, Reduced vital capacity, ... ORPHA:98913
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Succinic Acidemia
Respiratory distress OMIM:600335
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... OMIM:612387
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive impairment, Irritability, Anhedon... ORPHA:96369
Congenital Alpha2-Antiplasmin Deficiency
Intracranial hemorrhage, Gingival bleeding, Joint hemorrhage, Persistent bleeding after trauma, A... ORPHA:79
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Hyperactivity, Lethargy OMIM:274270
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death, Respiratory insufficiency OMIM:601612
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Cognitive impairment, Respiratory distress, Abnormal anterior horn cel... ORPHA:1145
Morm Syndrome
Hyperactivity, Truncal obesity ORPHA:75858
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal neuron morphology, Interictal epileptiform activity, EEG with generalized epileptiform d... ORPHA:163681
Myopathy And Diabetes Mellitus
Respiratory distress, Dementia ORPHA:2596
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Abnormal QRS complex, Abnormality of blood circulation, Tachypnea, Tachycardia, Cyanos... ORPHA:860
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy ORPHA:26792
Anaplastic Thyroid Carcinoma
Neoplasm of the lung, Stridor, Cough, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:142
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Hypoxemia, Systolic heart murmur, Bidirectional shunt, Tricuspid regur... ORPHA:439
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Cardiac conduction abnormality, Exertional dyspnea, Anomalous pulmonary veno... ORPHA:99105
Progressive Supranuclear Palsy-Corticobasal Syndrome
Mental deterioration, Respiratory distress, Memory impairment ORPHA:240103
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Con... ORPHA:454836
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... ORPHA:133
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, EEG abnormality, Broad-based gait, Obesity ORPHA:411515
Absence Of The Pulmonary Artery
Hypocapnia, Reduced ejection fraction, Systolic heart murmur, Bronchiectasis, Atrial fibrillation... ORPHA:980
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity OMIM:618362
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Dementia, EEG with series of focal spikes, EEG with photoparoxysmal response, E... ORPHA:168491
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Tetrasomy 5P
Pulmonary arterial hypertension, Respiratory distress, Cyanosis, Congestive heart failure, Recurr... ORPHA:3309
Ciliary Dyskinesia, Primary, 2
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Respiratory distress, Immotile cilia, Recurrent re... OMIM:606763
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Diffuse Alveolar Hemorrhage
Hypoxemia, Irregular septal thickening on pulmonary HRCT, Cough, Pulmonary venous hypertension, I... ORPHA:90060
Chitayat Syndrome
Respiratory distress, Abnormal pulmonary interstitial morphology, Tracheomalacia, Recurrent respi... OMIM:617180
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Cognitive impairment OMIM:237310
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Pulmonary arterial hypertension, Aortopulmonary window, Anomalous origin of ... ORPHA:99050
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Vitreous hemorrhage OMIM:612304
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Leukodystrophy, Hypomyelinating, 17
Respiratory distress OMIM:618006
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Right ventricular failure, Telangiectasia, Hypertension, Pulmo... OMIM:178600
Lymphoid Interstitial Pneumonia
Wheezing, Hypoxemia, Subpleural interstitial thickening, Crackles, Bronchiectasis, Cough, Raynaud... ORPHA:79128
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Respiratory insufficiency, Cou... ORPHA:183
Congenital Fibrinogen Deficiency
Gingival bleeding, Prolonged prothrombin time, Tachycardia, Subcutaneous hemorrhage, Cyanosis, Ab... ORPHA:335
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Respiratory distress, Death in infancy OMIM:615042
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
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malformation, Melena, Exertional dyspne... OMIM:187300
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Breath-Holding Spells
Cyanosis OMIM:607578
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Crackles, Cough, Abnormal pleura morphology, Pulmonary fibrosis, Restricti... ORPHA:210136
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Obstructive sleep apnea, Crackles, Cough, Reticular pattern on pulmonary HRCT, Decreased DLCO, Pu... OMIM:614742
Alpha-2-Plasmin Inhibitor Deficiency
Hemothorax, Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility OMIM:262850
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Systolic heart murmur, Tachypnea, Tricuspid regurgitation, Cyanosis, Anomalous pulmona... ORPHA:555874
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Multiple pulm... ORPHA:723
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Respiratory distress, Dyspnea, Recurrent respiratory infections ORPHA:2759
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Mitral regurgitation, Tricuspid regurg... ORPHA:75249
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cerebral hemorrhage, Ischemic stroke, Conjunctival telangiectasia, Spontaneous, recurrent epistax... OMIM:610655
Double Outlet Right Ventricle
Tachypnea, Tachycardia, Pulmonic stenosis, Cyanosis, Pulmonary artery atresia, Heart murmur ORPHA:3426
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Impaired pain sensation, Chorea, Hyperactivity, Inability to walk, EEG abnormality, Gai... ORPHA:500180
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Decreased body weight OMIM:618342
Pneumonia, Cough, Tachycardia, Respiratory distress, Pleural effusion ORPHA:3392
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Brown-Vialetto-Van Laere Syndrome 1
Stridor, Respiratory insufficiency, Respiratory distress, Recurrent respiratory infections, Noctu... OMIM:211530
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Respiratory insufficiency, Prolonged prothrombin time, Generalized abnorm... ORPHA:367
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Aortic Arch Interruption
Shock, Hypertension, Systolic heart murmur, Tachypnea, Aortic regurgitation, Aortopulmonary windo... ORPHA:2299
Telangiectasia, Hereditary Hemorrhagic, Type 2
Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malformation, Melena, Transient ischemi... OMIM:600376
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Spinocerebellar Ataxia, X-Linked 3
Dementia, Death in infancy, Episodic respiratory distress, Episodic hypoventilation, Recurrent re... OMIM:301790
Yellow Nail Syndrome
Sinusitis, Neoplasm of the lung, Bronchiectasis, Rhinitis, Pulmonary arterial hypertension, Pleur... ORPHA:662
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity, Hypsarrhythmia, EEG with burst suppression OMIM:619239
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Mercury Poisoning
Hypertension, Interstitial pneumonitis, Tachycardia, Respiratory distress, Respiratory failure, D... ORPHA:330021
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Cognitive impairment, Hyperactivity, Ataxia, Gait ataxia, ... ORPHA:363400
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Focal EEG discharges with secondary generalization, Shuffling gait, Hyperactivity, Broad-based ga... ORPHA:3077
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency OMIM:610773
Adult Acute Respiratory Distress Syndrome
Shock, Hypoxemia, Pneumonia, Abnormal blood gas level, Pulmonary edema, Vasculitis, Respiratory f... ORPHA:70578
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Familial Dilated Cardiomyopathy
Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, Palpitations, Reduced ejection... ORPHA:217607
Ethylene Glycol Poisoning
Shock, Hypertension, Episodic respiratory distress, Prolonged QT interval, Abnormal pattern of re... ORPHA:31826
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, EEG abnormality, Progressive language deterioration OMIM:610042
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough, Cardiomyopathy ORPHA:86812
Sepsis In Premature Infants
Abnormal respiratory system physiology, Petechiae, Tachycardia, Bradycardia, Jaundice, Cyanosis, ... ORPHA:90051
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Cyanosis, Pulmonary edema, Congestive heart failure, Shortened PR in... OMIM:261740
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Purpura, Pulmonary embolism OMIM:614514
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Neonatal death, Pulmonary hypoplasia, Jaundice OMIM:231680
Mental Retardation, Autosomal Recessive 61
Hyperactivity, EEG abnormality OMIM:617773
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Respiratory insufficiency, Respiratory insufficiency due to muscle w... ORPHA:308552
Gaucher Disease, Perinatal Lethal
Petechiae, Neonatal death, Apnea, Progressive neurologic deterioration, Respiratory distress, Pur... OMIM:608013
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Myoclonic-Astatic Epilepsy
EEG with focal spike waves, Interictal epileptiform activity, EEG with generalized slow activity,... ORPHA:1942
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Cyanosis OMIM:252320
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy, Atelectasis OMIM:300219
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia, Choreoathetosis OMIM:612716
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia OMIM:184260
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait OMIM:619470
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Cocaine Intoxication
Wheezing, Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachy... ORPHA:90068
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema OMIM:178400
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait, Failure to thrive OMIM:617865
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Pneumonia, Tachypnea, Atrioventricular block, Vent... ORPHA:26793
Scimitar Syndrome
Left-to-right shunt, Bronchogenic cyst, Pneumothorax, Pulmonary sequestration, Pulmonary arterial... ORPHA:185
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Pulmonary insufficiency, Mitral regurgitation, Aortic regurgitation, Pulm... ORPHA:2326
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia, Heart murmur ORPHA:1867
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Cognitive impairment, Cerebral ischemia ORPHA:927
Eisenmenger Syndrome
Wheezing, Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Exerti... ORPHA:97214
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, EEG abnormality OMIM:618718
Congenital Tracheal Stenosis
Wheezing, Pulmonary artery atresia, Abnormal lung lobation, Upper airway obstruction, Respiratory... ORPHA:141127
Infantile Neuroaxonal Dystrophy
Gait disturbance, Dystonia, Abnormality of peripheral nerve conduction, Hyperactivity, Ataxia, Ps... ORPHA:35069
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Respiratory insufficiency, Pulmonary arterial hypertension, Recurr... ORPHA:98915
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Interlobular septal thickening, Exertional dyspnea, Dyspnea, Intraalve... OMIM:614370
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Pulmonary arterial hypertension, Cough, Vasculitis, Cardiorespiratory ... ORPHA:228116
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress, Pulmonary hypoplasia OMIM:617895
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Respiratory insufficiency, Ventricular tachycardia, Cardiomyopathy, Cyanos... ORPHA:159
Criss-Cross Heart
Respiratory insufficiency, Tricuspid stenosis, Supravalvular aortic stenosis, Mitral stenosis, Pu... ORPHA:1461
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Respiratory distress OMIM:608799
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Dementia, Intracranial hemorrhage, Angioedema, Cough, Raynaud phenomenon,... ORPHA:3260
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Arrhythmia ORPHA:1345
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis ORPHA:745
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, EEG abnormality OMIM:271980
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Cardiogenic Shock
Right ventricular failure, Hypoxemia, Crackles, Mitral regurgitation, Low pulse pressure, Elevate... ORPHA:97292
Hemorrhagic Fever-Renal Syndrome
Petechiae, Melena, Pulmonary edema, Respiratory failure, Capillary leak, Ecchymosis, Hypertension... ORPHA:340
Clark-Baraitser Syndrome
Hyperactivity, Obesity OMIM:617752
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Macular purpura, Prolonged prothrombin time, Acrocyanosis, Intern... ORPHA:49566
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Klippel-Trénaunay Syndrome
Respiratory insufficiency, Gastrointestinal hemorrhage, Abnormality of the pulmonary artery, Prol... ORPHA:90308
Craniofaciofrontodigital Syndrome
Palmoplantar cutis laxa, Mitral regurgitation, Pulmonary arterial hypertension, Respiratory distr... ORPHA:363705
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Atrioventricular Septal Defect 3
Hypertension, Pulmonary arterial hypertension, Cyanosis, Congestive heart failure, First degree a... OMIM:600309
Ck Syndrome
Hyperactivity, Slender build ORPHA:251383
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Respiratory insufficiency, Left ventricular outflow tract obstructio... ORPHA:365
Histiocytoid Cardiomyopathy
Atrial fibrillation, Tachypnea, Atrioventricular block, Ventricular tachycardia, Supraventricular... ORPHA:137675
Respiratory distress, Death in infancy ORPHA:166272
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardiac conduction abn... ORPHA:70474
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Truncal obesity OMIM:613192
Goodpasture Syndrome
Hemosiderin-laden macrophages in bronchoalveolar fluid, Bloody bronchoalveolar lavage fluid, Crac... OMIM:233450
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Respiratory distress, Bradycardia ORPHA:226313
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Inhalational Anthrax
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension ORPHA:247257
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema OMIM:617300
Ck Syndrome
Hyperactivity, Slender build OMIM:300831
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Ecchymosis, Shock, Pneumonia, Tachypnea, Tachycardia, Respiratory distres... ORPHA:36234
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Pulmonary arterial hypertension, Respiratory distress, Abnormal pu... ORPHA:209905
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Chorea, Hyperactivity, Ataxia ORPHA:382
Fixed Subaortic Stenosis
Syncope, Mitral regurgitation, Systolic heart murmur, Palpitations, Aortic regurgitation, Pulmoni... ORPHA:3092
Myotonic Dystrophy 1
First degree atrioventricular block, Respiratory distress, Atrial flutter, Atrial fibrillation OMIM:160900
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Hyperactivity OMIM:615286
X-Linked Adrenoleukodystrophy
Gait disturbance, Dementia, Cognitive impairment, Hyperactivity, Attention deficit hyperactivity ... ORPHA:43
Arnold-Chiari Malformation Type Ii
Cyanosis, Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Recurrent bronchopulmonary infections, Respiratory distress, Recurre... OMIM:617303
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Cardiomyopathy ORPHA:79312
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis ORPHA:391428
Congenital Enterovirus Infection
Myocarditis, Cardiomyopathy, Respiratory distress, Abnormal bleeding, Pleural effusion, Hypotension ORPHA:292
Lujo Hemorrhagic Fever
Myocarditis, Ecchymosis, Shock, Crackles, Rhinitis, Subconjunctival hemorrhage, Bradycardia, Exce... ORPHA:319213
Clcn4-Related X-Linked Intellectual Disability Syndrome
Chorea, Progressive cerebellar ataxia, Hyperactivity, EEG with focal spikes, Unsteady gait ORPHA:485350
Myocarditis, Pericarditis, Respiratory insufficiency, Cutaneous photosensitivity, Lung adenocarci... ORPHA:221
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Esophageal Atresia
Chronic pulmonary obstruction, Episodic respiratory distress, Laryngotracheomalacia, Respiratory ... ORPHA:1199
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Urticaria, Gastrointestinal hemorrhage, Vasculitis, Purpura ORPHA:343
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Hypertension, Tachypnea, Bradycardia, Tachycardia, Respiratory distress ORPHA:3299
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Pulmonary artery ... ORPHA:3342
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Cachexia, Chorea, Hyperactivity, Ataxia ORPHA:52503
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Apneic episodes in infancy, Paroxysmal dyspnea, Mixed total anomalous ... ORPHA:99125
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Obesity OMIM:301013
Q Fever
Myocarditis, Pericarditis, Pneumonia, Cough, Respiratory distress, Abnormal pulmonary interstitia... ORPHA:781
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Failure to thrive in infancy, Small for gestational age, Hyperactivity, Ataxia OMIM:614104
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress OMIM:618426
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Decreased body weight, Broad-based gait OMIM:300958
Pneumonia, Cough, Respiratory distress, Nodular pattern on pulmonary HRCT, Dyspnea, Mental deteri... ORPHA:1546
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Tachycardia, Episodic tachypnea, Respiratory distress, Dyspnea, Inter... ORPHA:348
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Chorea, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Mental deterioratio... OMIM:610217
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Respiratory distress ORPHA:66637
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:608022
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss OMIM:275000
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Dravet Syndrome
Cognitive impairment, Cyanotic episode ORPHA:33069
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypertrophic cardiomyopathy, Respiratory distress, Recurrent respiratory infections OMIM:619383
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Pulmonary embolism, Subcutaneous hemorrhage ORPHA:743
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections ORPHA:329178
Primary Dystonia, Dyt4 Type
Respiratory distress, Dementia ORPHA:98805
Potocki-Lupski Syndrome
Failure to thrive, Hyperactivity, EEG abnormality, Small for gestational age OMIM:610883
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Atrioventricular block, Bradycardia OMIM:614407
Truncus Arteriosus
Abnormal lung lobation, Tachypnea, Aortic regurgitation, Pulmonary artery hypoplasia, Tachycardia... ORPHA:3384
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Infantile Krabbe Disease
Psychomotor deterioration, Progressive neurologic deterioration, Respiratory distress, Abnormal h... ORPHA:206436
Toxic Epidermal Necrolysis
Erythema, Cough, Respiratory distress, Gastrointestinal hemorrhage, Abnormal pleura morphology, R... ORPHA:537
Renal Dysplasia-Limb Defects Syndrome
Pneumothorax, Neonatal death, Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:266910
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Degeneration of anterior horn cells OMIM:271225
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Antenatal intracerebral hemorrhage, Respiratory insufficiency, Apnea, Res... OMIM:608836
Japanese Encephalitis
Abnormal pattern of respiration, Cognitive impairment, Respiratory paralysis, Respiratory distres... ORPHA:79139
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia, Atelectasis ORPHA:896
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Hyperactivity, Fatigable weakness of skeletal muscles ORPHA:166108
Thrombotic Thrombocytopenic Purpura, Hereditary
Myocardial infarction, Respiratory distress, Transient ischemic attack, Prolonged neonatal jaundi... OMIM:274150
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Hyperactivity ORPHA:369939
Polycythemia Vera
Hypertension, Respiratory insufficiency, Gingival bleeding, Budd-Chiari syndrome, Epistaxis, Inte... ORPHA:729
Cirrhotic Cardiomyopathy
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... ORPHA:57777
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Structural Heart Defects And Renal Anomalies Syndrome
Systolic heart murmur, Cyanosis, Death in infancy, Partial anomalous pulmonary venous return OMIM:617478
Idiopathic Pulmonary Arterial Hypertension
Syncope, Palpitations, Pulmonary arterial hypertension, Tricuspid regurgitation, Elevated pulmona... ORPHA:275766
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Pulmonary arterial hypertension, Acrocyanosis, ... ORPHA:2905
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Ataxia, Hyperactivity, EEG abnormality, Broad-based gait, EEG with abnormally slo... ORPHA:98794
Radio-Renal Syndrome
Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylothorax ORPHA:3015
Smith-Magenis Syndrome
Hyperactivity, EEG abnormality, Increased body weight, Impaired pain sensation OMIM:182290
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait ORPHA:457260
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia OMIM:202650
Holocarboxylase Synthetase Deficiency
Tachypnea, Respiratory distress ORPHA:79242
Pulmonary Hypertension, Primary, 3
Dyspnea, Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary... OMIM:615343
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Dementia, Subdural hemorrhage, Pulmonary arterial hypertension, Respirato... ORPHA:79282
Nasolacrimal Duct Cyst
Abnormal breath sound, Paroxysmal dyspnea, Stridor, Episodic respiratory distress, Intercostal re... ORPHA:141083
Hereditary Angioedema Type 1
Dermatographic urticaria, Respiratory distress, Urticaria, Dyspnea, Hypotension, Inspiratory stridor ORPHA:100050
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Mental deterioration, Diff... ORPHA:139396
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Failure to thrive, Truncal obesity, Hyperactivity, Attention deficit h... ORPHA:73272
Aicardi-Goutieres Syndrome 1
Petechiae, Erythema, Cardiomyopathy, Acrocyanosis, Vasculitis, Purpura, Prolonged neonatal jaundice OMIM:225750
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Tachycardia, Acrocyanosis, Decreased sensitivity to hypoxe... OMIM:223900
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2707
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Pulmonic stenosis ORPHA:3304
Unilateral Polymicrogyria
Cyanosis, Epistaxis, Apnea, Pulmonary arteriovenous malformation ORPHA:268943
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrophic cardiomyopathy, Stridor, Mitral regurgitation, Pulmonary arterial hypertension, Tach... ORPHA:505248
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Cognitive impairment, Ataxia OMIM:601853
Catastrophic Antiphospholipid Syndrome
Myocarditis, Dementia, Pulmonary arterial hypertension, Arterial occlusion, Myocardial infarction... ORPHA:464343
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Pulmonary fibrosis OMIM:612852
13Q12.3 Microdeletion Syndrome
Failure to thrive, Hyperactivity, Obesity, Impaired pain sensation ORPHA:412035
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Cardiac conduction abnormality, Apnea, Progressive neurologic deterioration, Car... ORPHA:2131
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Myasthenia Gravis
Acrocyanosis, Dyspnea, Raynaud phenomenon ORPHA:589
Productive cough, Pericarditis, Pneumonia, Pneumothorax, Pleuritis, Respiratory distress, Nonprod... ORPHA:31204
Rare Circulatory System Disease
Cyanosis, Intermittent claudication ORPHA:98028
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Exertional dyspnea, Respiratory insufficiency due to muscle weakness... OMIM:220110
Moebius Syndrome
Respiratory distress OMIM:157900
Farber Disease
Respiratory insufficiency, Respiratory distress, Recurrent upper respiratory tract infections, No... ORPHA:333
Hereditary Hemorrhagic Telangiectasia
Cerebral hemorrhage, Epistaxis, Pulmonary arterial hypertension, Conjunctival telangiectasia, Tel... ORPHA:774
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Pulmonary edema, Respiratory distress, Apnea, Hypoventilation ORPHA:79330
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Tachycardia, Acrocyanosis, Abnormal pleura morphology, Rec... ORPHA:1764
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Progressive neurologic deterioration OMIM:252920
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Abnormal T-wave, Palpitations, Reduced FEV1/FVC ratio, Pulmon... ORPHA:70591
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Obesity OMIM:600430
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Death in infancy, Respirator... OMIM:252010
Respiratory distress ORPHA:370924
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Myopathy With Extrapyramidal Signs
Dystonia, Choreoathetosis, Chorea, Hyperactivity, Ataxia, Difficulty walking OMIM:615673
Tarp Syndrome
Cyanosis, Apnea, Pulmonary hypoplasia ORPHA:2886
Angelman Syndrome
Progressive gait ataxia, Hyperactivity, EEG abnormality, Broad-based gait, Obesity OMIM:105830
Pericarditis, Pneumonia, Cognitive impairment, Vasospasm, Cough, Cerebral ischemia, Pleural empye... ORPHA:228123
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Diffuse alveolar hemorrhage, Abnormal left ventricular ... ORPHA:99827
Colchicine Poisoning
Myocarditis, Cardiogenic shock, Respiratory distress, Cardiorespiratory arrest, Congestive heart ... ORPHA:31824
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Hypercapnia,... OMIM:164310
Pericarditis, Subconjunctival hemorrhage, Pulmonary hemorrhage, Cough, Jaundice, Respiratory dist... ORPHA:509
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Obesity OMIM:614613
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... ORPHA:216694
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Tracheomalacia, Neonatal respiratory distress, Cardiomyopathy OMIM:217980
Recurrent upper and lower respiratory tract infections, Reflex asystolic syncope, Respiratory dis... ORPHA:79329
Hutchinson-Gilford Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Aortic regurgitation, Pulmonary arte... ORPHA:740
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Cyanosis, Pulmonary artery hypoplasia, Pulmonary artery ... OMIM:616749
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Motor deterioration OMIM:252930
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Tricuspid regurgitation OMIM:612863
Postinfectious Vasculitis
Hypertension, Pneumonia, Palpable purpura, Vasculitis in the skin, Raynaud phenomenon, Cardiomyop... ORPHA:48435
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obstructive sleep apnea, Recurrent lower respiratory tract infections, Central hypoventilation, R... ORPHA:293987
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections OMIM:300968
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Respiratory insufficiency, Pulmonary hypoplasia, Repeated pneumothoraces... ORPHA:536467
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... OMIM:615344
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Dementia, Dystonia, Choreoathetosis, Bradykinesia, Hyperactivity, Ataxia, Akine... OMIM:234200
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Obesity OMIM:618430
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Myocarditis, Pericarditis, Pneumonia, Respiratory distress, Arteritis, Congestive heart failure, ... ORPHA:533
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypertension, Palmoplantar cutis laxa OMIM:123790
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Neonatal respiratory distress, Respiratory acidosis, Erythema, Respiratory distress, Abnormal pul... OMIM:614748
Idiopathic Steroid-Resistant Nephrotic Syndrome
Respiratory tract infection, Pulmonary embolism ORPHA:567548
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Citrullinemia Type Ii
Hyperactivity, Decreased body mass index, Memory impairment, Lethargy ORPHA:247585
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Hyperactivity, EEG abnormality, Broad-based gait, Obesity ORPHA:85293
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia ORPHA:530983
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism ORPHA:624
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Pneumonia, Budd-Chiari syndrome OMIM:226300
Tuberous Sclerosis Complex
Hypertension, Generalized abnormality of skin, Respiratory distress, Respiratory tract infection,... ORPHA:805
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Pneumonia, Urticaria, Respiratory distress, Recurrent respiratory infec... ORPHA:37042
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Raynaud phenomenon, Intermittent claudication, Acrocy... OMIM:259900
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Stridor, Pneumonia, Pneumothorax, Bradycardia, Respiratory distress, Frag... ORPHA:79404
Campomelic Dysplasia
Respiratory distress, Apnea, Tracheobronchomalacia OMIM:114290
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis, Pulmonic stenosis OMIM:306955
Auriculocondylar Syndrome
Respiratory distress, Snoring, Obstructive sleep apnea ORPHA:137888
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Failure to thrive, Shuffling gait, Hyperactivity, Decreased body weight, Pain insensitivity OMIM:300534
16P12.1P12.3 Triplication Syndrome
Failure to thrive, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:485405
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hypertension ORPHA:1555
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis ORPHA:210122
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hyperactivity, Gait disturbance, Large for gestational age ORPHA:457485
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Respiratory tract infection, Pulmonary embolism, Dyspnea, Pleural effusion ORPHA:567546
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress OMIM:183900
Early Infantile Epileptic Encephalopathy
Dystonia, Choreoathetosis, Failure to thrive, Hypsarrhythmia, EEG with burst suppression, Hyperac... ORPHA:1934
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Weight loss, Small for gestational age ORPHA:424
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertrophic cardiomyopathy, Respiratory distress, Recurrent respiratory infections, Apnea ORPHA:17
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Tropical Endomyocardial Fibrosis
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... ORPHA:75565
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Central sleep apnea OMIM:615273
Primary Hyperoxaluria
Cardiomyopathy, Heart block, Arterial occlusion, Raynaud phenomenon, Intermittent claudication, C... ORPHA:416
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Ehlers-Danlos Syndrome, Vascular Type
Ecchymosis, Bruising susceptibility, Pneumothorax, Arterial rupture, Pulmonary bulla, Recurrent i... OMIM:130050
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Impaired vibratory sensation OMIM:609727
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Angelman Syndrome
Hyperactivity, Inability to walk, Ataxia, EEG abnormality, Broad-based gait, Obesity ORPHA:72
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Episodic respiratory distress, Cardiac condu... ORPHA:255210
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Legius Syndrome
Attention deficit hyperactivity disorder, Dystonia, Cognitive impairment, Hyperactivity ORPHA:137605
Adenylosuccinase Deficiency
Hyperactivity, Inability to walk, Gait ataxia OMIM:103050
Kasabach-Merritt Syndrome
Petechiae, Hypopnea, Prolonged prothrombin time, Respiratory distress, Purpura ORPHA:2330
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections ORPHA:177907
Dysmetria, Failure to thrive, Hyperactivity, Tip-toe gait, EEG with spike-wave complexes ORPHA:2203
Pitt-Hopkins Syndrome
Acrocyanosis, Abnormal pattern of respiration, Hyperventilation, Sleep apnea ORPHA:2896
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress OMIM:260400
Adnp Syndrome
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections ORPHA:404448