Gene Summary

Name:
PHD finger protein 14
Synonyms:
4932409F11Rik,  5730446A07Rik,  1110001C23Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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.

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Phf14em1(IMPC)Hmgu HET   Early adult 6.91×10-06
preweaning lethality, complete penetrance Phf14em1(IMPC)Hmgu HOM   Early adult 1.34×10-06
decreased circulating alkaline phosphatase level Phf14em1(IMPC)Hmgu HET Early adult 5.39×10-07
decreased vertical activity Phf14em1(IMPC)Hmgu HET Early adult 1.03×10-06
decreased startle reflex Phf14em1(IMPC)Hmgu HET Early adult 4.61×10-05
decreased locomotor activity Phf14em1(IMPC)Hmgu HET   Early adult 2.21×10-06

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Viewing: all phenotypes
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Viewing: all phenotypes

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 Phf14 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 Phf14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lethal Congenital Contracture Syndrome 3
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Respiratory insu... OMIM:611369
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit... OMIM:265120
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A... ORPHA:70589
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... ORPHA:2302
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... OMIM:610913
Perching Syndrome
Respiratory distress, Joint contracture, Cyanosis, Camptodactyly OMIM:617055
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Clubbing, Intraalve... OMIM:610910
Schizophrenia 15
Hyperactivity OMIM:613950
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Death... OMIM:300717
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aplasia/Hypoplasia of fingers, Upper airway obstruction, Aspiratio... ORPHA:141152
Bullous Dystrophy, Hereditary Macular Type
Tapered finger, Acrocyanosis, Short finger, Death in childhood OMIM:302000
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Joint contracture, Respiratory insufficiency, Death in childhood OMIM:616081
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... OMIM:619751
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... ORPHA:2004
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, P... ORPHA:1302
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... ORPHA:79126
Congenital Myopathy 14
Death in infancy, Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... OMIM:618414
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... OMIM:156530
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia OMIM:301107
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia, Lethargy OMIM:605899
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia OMIM:620270
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... OMIM:612716
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Flexion contracture OMIM:615348
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms OMIM:239500
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... ORPHA:50251
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Tapered finger, Respiratory insufficien... OMIM:313420
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Craniosynostosis, Upper airway ... ORPHA:137914
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Interstitial Lung Disease 2
Dyspnea, Clubbing of fingers, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neut... OMIM:178500
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Dystonia OMIM:615924
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Clu... OMIM:619611
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Joint laxity, Respiratory failure, Hypoplasia of the capital femoral epiphysis OMIM:600561
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... ORPHA:2257
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Flexion contracture, Cough, Abnormal patt... ORPHA:77260
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Restrictive ventilatory... OMIM:614399
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Arthrogryposis multipl... OMIM:619334
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms OMIM:619470
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Clubbing, Intraalveolar phospholipid accumulat... ORPHA:747
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure, Congenital contracture OMIM:225753
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubbing, ... ORPHA:60033
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Respiratory insufficiency due to muscle weakness, Respiratory failure, Hip dy... OMIM:611890
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Split hand, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Hyperekplexia 4
Flexion contracture, Respiratory failure, Distal arthrogryposis, Camptodactyly, Adducted thumb OMIM:618011
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... OMIM:620296
Hartnup Disorder
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Polydactyly, Respiratory distress OMIM:615993
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Arachnodactyly, Missing ribs, Dyspnea, Ab... ORPHA:2759
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Achilles tendon contracture OMIM:604801
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Progressive cervical vertebral spine fusion, Ectopic ossification in tendon tissue... OMIM:135100
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, A... OMIM:616414
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... ORPHA:70588
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Hypoxemia... ORPHA:36238
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... OMIM:619405
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, Tremor, Inability to walk, Dystonia ORPHA:599373
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Succinic Acidemia
Respiratory distress OMIM:600335
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Dysp... ORPHA:199241
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Congenital Myopathy 21 With Early Respiratory Failure
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia OMIM:620326
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Respiratory fail... OMIM:616867
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior, Dystonia ORPHA:382
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Narrow pelvis bone, Absent or minimally ossified vertebral bo... ORPHA:66637
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hyperactivity, Ataxia, Aggressive behavior OMIM:300983
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Death in infancy, Short metacarpal, Brach... OMIM:184260
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Respiratory... ORPHA:1143
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Clubbing of... ORPHA:2032
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... OMIM:234810
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radi... OMIM:617895
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Flexion contracture, Hip dislocation, Elbow flexion contracture, Hyperextensibility at ... ORPHA:75840
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Recur... ORPHA:2590
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Restrictive Dermopathy 2
Respiratory distress, Cyanosis, Short clavicles, Overtubulated long bones OMIM:619793
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... ORPHA:411703
Lethal Recessive Chondrodysplasia
Respiratory distress, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses ORPHA:1423
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... OMIM:618718
Juvenile Huntington Disease
Broad-based gait, Hyperactivity, Ataxia, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia... ORPHA:248111
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... OMIM:613490
Scedosporiosis
Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Ab... ORPHA:449280
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema ORPHA:70578
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... ORPHA:454836
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Odontochondrodysplasia
Respiratory distress, Death in infancy, Bowing of the long bones, Coxa valga, Cone-shaped epiphys... ORPHA:166272
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Idiopathic Pulmonary Hemosiderosis
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Restrictive ve... ORPHA:99931
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Multiple joint contractures, Hip dislocation, Respiratory insufficiency ORPHA:370968
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth... ORPHA:2902
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... OMIM:620011
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Atelectasis, Thin ribs, Neonatal death, Joint hypermobility OMIM:300219
Waardenburg Syndrome Type 3
Camptodactyly of finger, Joint stiffness, Atelectasis, Abnormal finger morphology, Cutaneous fing... ORPHA:896
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture OMIM:617977
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria ORPHA:100057
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage ORPHA:238459
Glutaric Acidemia Type 3
Lethargy, Impulsivity, Abnormality of circulating enzyme level, Elevated circulating glutaric aci... ORPHA:35706
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Congenital contracture OMIM:615042
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Split hand, Apnea, Respiratory failure ORPHA:168486
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... ORPHA:1145
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... ORPHA:133
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypo... OMIM:612387
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Intermediate Nemaline Myopathy
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Respiratory failure, Flexion con... ORPHA:171433
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Radial bowing, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic i... OMIM:151210
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency OMIM:601612
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Congenital hip dislocation, Multiple joint contractures, Femur fracture, Respirato... OMIM:618291
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Clinodactyly OMIM:300934
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Lennox-Gastaut Syndrome
Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Hallux valgus, Abnormal pulmonary interst... OMIM:617180
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Breath-Holding Spells
Cyanosis OMIM:607578
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Clubbing, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hem... ORPHA:2038
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Flexion contracture, 2-3 toe syndactyly, Respiratory insufficiency, Respi... OMIM:618186
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia ORPHA:500180
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Osteopenia, Crackles, Dyspnea, Premature graying of hair, Decreased DLCO, Clubbing of fingers, Pu... OMIM:614742
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis ORPHA:444013
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Death in infancy, Intraalveolar phospholipid accumulation, Resp... OMIM:618042
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Neoplasm of the lung, Stridor, Cough ORPHA:142
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Multiple Mitochondrial Dysfunctions Syndrome 3
Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insufficiency OMIM:615330
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Hypoplasia of the radius, Abnormal rib morphology, Respiratory fai... ORPHA:3015
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... OMIM:607625
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:609981
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Malaria
Respiratory distress ORPHA:673
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Elevated circulating gamma-a... OMIM:271980
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Pulmonary hypoplasia OMIM:616733
Pontocerebellar Hypoplasia Type 1
Arthrogryposis multiplex congenita, Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Cough ORPHA:99825
Achondroplasia
Respiratory distress, Death in infancy, Brachydactyly, Radial bowing, Limited hip extension, Shor... OMIM:100800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Achilles tendon contracture, Restrictive ventilatory defect,... OMIM:606612
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Camptodactyly of finger, Tachypnea, Respiratory failure, Inspiratory stridor, Ventilator dependen... OMIM:604320
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Osteogenesis Imperfecta, Type X
Respiratory distress, Osteopenia, Joint laxity, Multiple rib fractures, Short femur, Bowing of th... OMIM:613848
Myopathy And Diabetes Mellitus
Respiratory distress, Achilles tendon contracture ORPHA:2596
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Flexion contracture, Thin ribs, Respiratory failure, Pulmonary hypop... ORPHA:171430
Muscular Dystrophy, Duchenne Type
Hypoventilation, Respiratory insufficiency due to muscle weakness, Achilles tendon contracture, F... OMIM:310200
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Recurrent infections... ORPHA:70
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure, Epiphyseal stippling OMIM:614862
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Compulsive behaviors, Hyperph... OMIM:261600
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ... ORPHA:228360
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short m... OMIM:617102
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,... OMIM:271225
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra... OMIM:612852
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Joint stiffness ORPHA:2400
Congenital Myasthenic Syndrome
Joint laxity, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Congenital hip d... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Joint laxity, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Congenital hip d... ORPHA:98914
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Kniest Dysplasia
Respiratory distress, Hip contracture, Dumbbell-shaped long bone, Delayed epiphyseal ossification... OMIM:156550
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... OMIM:211530
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Facial erythema, Arthritis, Vasculitis in the skin, Recurrent lower ... OMIM:620321
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis ORPHA:449285
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Cyanosis, Overlapping toe, Short hallux, ... ORPHA:3309
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure ORPHA:352447
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:613561
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles ORPHA:60041
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ankle flexion contracture, Small hand, Upper limb undergrowth, Knee flexion... OMIM:608799
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... ORPHA:555874
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Femoral bowing, Tibial bowing, Respiratory failure, Neonatal... OMIM:616482
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... OMIM:615512
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia ORPHA:411515
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Abnormal epiphysis morphology, Prolonged n... ORPHA:226313
Diaphanospondylodysostosis
Respiratory distress, Delayed vertebral ossification, Absent in utero ossification of vertebral b... OMIM:608022
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure, Flexion contracture, Camptodactyly of finger ORPHA:1194
Moebius Syndrome
Respiratory distress, Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morpholo... OMIM:157900
Hereditary Motor And Sensory Neuropathy, Type Iic
Down-sloping shoulders, Stridor, Respiratory failure, Hammertoe, Intercostal muscle weakness OMIM:606071
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood, Joi... OMIM:620278
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of... ORPHA:254361
Alg1-Cdg
Respiratory failure, Limitation of joint mobility ORPHA:79327
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Glycine Encephalopathy With Normal Serum Glycine
Joint laxity, Hip contracture, Apnea, Overlapping toe, Flexion contracture, Hip dislocation, Elbo... OMIM:617301
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Reduced forced vital capacity, Achilles tendon contracture, Recurrent pneumoni... OMIM:620249
Nephronophthisis 2
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Cyanosis, Postaxial polydactyly, Postaxial hand polydactyly... OMIM:619879
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Erythema, Recurrent pneumo... ORPHA:420741
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis, Clubbing ORPHA:439
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Abnormal metaphysis morphology ORPHA:1861
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Arachnodactyly, Cr... ORPHA:3342
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Short f... OMIM:617809
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture OMIM:617239
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Craniosynostosis, Ankle flexion contracture, Knee flexion contracture, Cy... ORPHA:284417
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... ORPHA:99106
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Respiratory failure, Bruising susceptibility ORPHA:3226
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Tapered finger, Flexion contracture, Hyperextensibility at wrists, Hip dysp... ORPHA:544503
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Respiratory failure OMIM:607598
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, Metaphyseal sclerosis,... OMIM:260400
Congenital Multicore Myopathy With External Ophthalmoplegia
Joint laxity, Recurrent respiratory infections, Pneumonia, Flexion contracture, Abnormal respirat... ORPHA:98905
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... ORPHA:308552
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hypercholest... ORPHA:247585
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Flexion contracture, Tapered finger OMIM:616505
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ... ORPHA:2357
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Osteopenia, Multiple joint contractures, Metaphyseal widening, Arachnodacty... ORPHA:536467
Sandestig-Stefanova Syndrome
Clinodactyly, Respiratory failure, Rocker bottom foot, Camptodactyly OMIM:618804
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Arachnodactyly ORPHA:2707
Buerger Disease
Acrocyanosis ORPHA:36258
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Athetosis, Dystonia, Self-mut... ORPHA:52503
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture OMIM:618201
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Lethal Acantholytic Erosive Disorder
4-5 finger syndactyly, 2-3 finger syndactyly, Fragile skin, Respiratory failure, Clinodactyly of ... ORPHA:158687
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Death in infancy, Neonatal respiratory distress, Apnea, Tapered toe, Tapered finger, Lo... OMIM:608836
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Rocker bottom foot, Adducted thumb ORPHA:89844
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia, Short finger, Tapered finger ORPHA:1867
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Optic Atrophy 11
Hyperactivity, Ataxia, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocking, Attention ... OMIM:617302
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Broad ribs, Short ribs... ORPHA:2519
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... ORPHA:90051
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu... ORPHA:141127
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morphology, Bro... OMIM:620233
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Meier-Gorlin Syndrome 1
Respiratory distress, Flat glenoid fossa, Flexion contracture, Cutaneous finger syndactyly, Short... OMIM:224690
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation OMIM:618056
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea, Anomalous pulmonary venous return ORPHA:860
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration OMIM:604377
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Flexion contracture, Respiratory insufficiency, Pulmonary arterial ... ORPHA:258
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Polydactyly, Aspiration pneumonia ORPHA:314655
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Sinusitis, Abnormal pleura morphology, Asth... ORPHA:183
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Tapered finger, Long fingers, Joint contracture of the 5th finger, Clinodactyly of the 5th finger... OMIM:614407
Pfeiffer Syndrome Type 2
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93259
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Osteopenia, Short femur, Recurrent fractures, Metaphyseal spurs, Undulate r... OMIM:618188
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Generalized abnormality of skin, Flexion contracture, Respiratory insuffici... ORPHA:367
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Limited wrist extension, Re... ORPHA:98915
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Pulmonary hypoplasia, Neonatal death OMIM:231680
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Limited elbow movement, Hip dislocation, Coxa vara, Flattened epiphysis, Re... OMIM:183900
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dystonia, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, D... OMIM:610217
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... ORPHA:209905
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hip contracture, Congenital hip dislocation, Hypercapnia, Ankle... ORPHA:2020
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... ORPHA:99104
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent fractures, Craniosynostosi... ORPHA:2314
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Respiratory insufficiency due to muscle weakness,... ORPHA:2905
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Gait... ORPHA:98794
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Long toe, Overlapping toe, Flexion contracture, Respiratory failure, Coat hanger si... ORPHA:254528
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Short toe, Recurrent upper ... ORPHA:333
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Clinodactyly, Episo... ORPHA:1199
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Congenital Fibrinogen Deficiency
Clubbing of fingers, Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Campomelic Dysplasia
Respiratory distress, Apnea, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hy... OMIM:114290
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Orthopnea, Cyanosis, Nonproductive cough, Dyspnea, Recurrent pn... ORPHA:980
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress, Increased bone mineral density, Hypoplastic ... OMIM:119600
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Osteopenia, Contractures of the large joints ORPHA:329178
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... ORPHA:365
Craniofaciofrontodigital Syndrome
Respiratory distress, Osteopenia, Prominent superficial veins, Joint laxity, Dyspnea, Osteoporosi... ORPHA:363705
Stt3B-Cdg
Respiratory distress ORPHA:370924
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Double Outlet Right Ventricle
Pulmonary artery atresia, Cyanosis, Tachypnea ORPHA:3426
Tarp Syndrome
Finger syndactyly, Cyanosis, Apnea, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of prox... ORPHA:2886
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Pulmonary hypoplasia, Neonatal death, Arthrogryposis multiplex conge... OMIM:608013
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Overlapping toe, Flexion contracture, Ove... OMIM:619383
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Flared metaphysis, Respiratory failure, Sti... OMIM:259720
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Me... OMIM:617303
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... ORPHA:99050
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Short humerus, Short femur, Sandal gap, Recurrent upper respiratory tract i... OMIM:607143
Dravet Syndrome
Limited knee extension, Cyanotic episode, Tibial torsion ORPHA:33069
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
Goodpasture Syndrome
Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Restrictive ven... OMIM:233450
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure, Osteopetrosis ORPHA:3240
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Dyspnea, Pate... ORPHA:2554
Nocardiosis
Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, E... ORPHA:31204
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest ORPHA:26791
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial epiphyses, Shor... ORPHA:96334
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Pulmonary Hypertension, Primary, 1
Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar... OMIM:178600
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress ORPHA:79312
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of fingers, Cyanosis, 2-3 toe syndactyly, Clubbing of toes ORPHA:3304
Pfeiffer Syndrome Type 3
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93260
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Fractures of the ... ORPHA:496641
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Stüve-Wiedemann Syndrome
Respiratory distress, Osteopenia, Flexion contracture of finger, Bowing of the long bones, Apnea,... ORPHA:3206
Tetanus
Respiratory distress, Tachypnea, Stiff neck ORPHA:3299
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Joubert Syndrome 21
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Short ribs, Chronic sinusitis OMIM:615636
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response OMIM:620114
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Microlissencephaly-Micromelia Syndrome
Respiratory distress, 11 pairs of ribs, Adducted thumb ORPHA:50810
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Sho... OMIM:217980
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Ethylene Glycol Poisoning
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Pulmonary edema ORPHA:31826
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Limb joint contracture, Shoulder flexion contracture, Tape... OMIM:620369
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Short femur, Pneumothorax, Pulmonary hypoplasia, Short tibia OMIM:620306
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Pulmonary artery hypoplasia, Cyanosis, Osteoporosis ORPHA:2326
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Limitation of joint mobility, Urticaria, Arthritis, Acrocyanosis, Purpura ORPHA:343
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Tachypnea, Rickets, Abnormal pulmonary interstitial morphology, Respira... OMIM:613658
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Brachydactyly, Abnormal distal phalanx morphology of f... ORPHA:2636
Ulbright-Hodes Syndrome
Respiratory distress, Short humerus, Short metacarpal, Pneumothorax, Humeroradial synostosis, Abn... ORPHA:3404
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, S... OMIM:304120
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Osteoglophonic Dysplasia
Respiratory distress, Osteopenia, Short metacarpal, Hypoplastic scapulae, Bowing of the long bone... OMIM:166250
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure, Limb joint contracture OMIM:620327
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea ORPHA:26793
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... ORPHA:185
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Carnitine Deficiency, Systemic Primary
Respiratory distress OMIM:212140
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:610505
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema OMIM:617300
Eosinophilic Fasciitis
Arthritis, Acrocyanosis ORPHA:3165
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor ORPHA:100050
Lujo Hemorrhagic Fever
Respiratory distress, Stiff neck, Crackles, Atelectasis, Nonproductive cough, Rhinitis, Ecchymosi... ORPHA:319213
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia OMIM:618314
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency, Equinus calcaneus ORPHA:746
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Osteomyelitis, Pneumonia, Respiratory tract infection, Tachypnea... ORPHA:36234
Isolated Atp Synthase Deficiency
Respiratory distress ORPHA:254913
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Pleural effusion, Pulmonary edema OMIM:261740
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Bowing of the legs, Atelectasis, Short toe, Respiratory insufficiency, Shor... OMIM:269860
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... OMIM:244400
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Joint laxity, Postaxial polydactyly, Tape... OMIM:300968
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Osteo... ORPHA:1546
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Myhre Syndrome
Vertebral fusion, Overlapping toe, Joint stiffness, Short toe, Limitation of joint mobility, 2-3 ... OMIM:139210
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Ataxia OMIM:616881
Malignant Atrophic Papulosis
Pleural effusion, Telangiectasia of the skin, Respiratory failure ORPHA:679
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Tay-Sachs Disease
Exaggerated startle response, Dystonia, Increased serum beta-hexosaminidase, Tremor, Inability to... ORPHA:845
Listeriosis
Respiratory distress, Stiff neck, Miscarriage, Pneumonia, Osteomyelitis, Jaundice, Respiratory fa... ORPHA:533
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure OMIM:252010
Mitochondrial Complex I Deficiency, Nuclear Type 37