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Gene: Phf14 MGI:1923539

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
decreased startle reflex Phf14em1(IMPC)Hmgu HET Early adult 4.06×10-05
decreased circulating alkaline phosphatase level Phf14em1(IMPC)Hmgu HET Early adult 5.39×10-07
preweaning lethality, complete penetrance Phf14em1(IMPC)Hmgu HOM   Early adult 1.34×10-06
decreased locomotor activity Phf14em1(IMPC)Hmgu HET   Early adult 2.20×10-06
hyperactivity Phf14em1(IMPC)Hmgu HET   Early adult 6.72×10-06
decreased vertical activity Phf14em1(IMPC)Hmgu HET Early adult 1.06×10-06

Download data as:  TSV  XLS

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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
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Neonatal death, Tachypnea, Paraseptal emphysema, Clubbing, Reticular patter... OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... OMIM:265120
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ... OMIM:263000
Lethal Congenital Contracture Syndrome 3
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Respiratory insu... OMIM:611369
Immunodeficiency 95
Recurrent viral pneumonia, Respiratory distress, Recurrent viral upper respiratory tract infectio... OMIM:619773
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Schizophrenia 15
Hyperactivity OMIM:613950
Bronchopulmonary Dysplasia
Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxemia, Dyspnea, Abnormal lung ... ORPHA:70589
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Bronchiectasis, Spontaneous pneumothorax, Recurrent pneumonia, In... OMIM:610913
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dys... OMIM:267450
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Perching Syndrome
Respiratory distress, Camptodactyly, Cyanosis, Joint contracture OMIM:617055
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Hypoxemia, Respiratory tract infection, Cyanosis, Pulmonary edema, Tachyp... ORPHA:70587
Bullous Dystrophy, Hereditary Macular Type
Tapered finger, Acrocyanosis, Death in childhood, Short finger OMIM:302000
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Flexion contracture, Respiratory failure, Respiratory insufficiency due to ... OMIM:300717
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d... ORPHA:2302
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia, Death in infancy OMIM:254120
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Developmental And Epileptic Encephalopathy 71
Cheyne-Stokes respiration, Respiratory failure, Respiratory insufficiency OMIM:618328
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Pontocerebellar Hypoplasia, Type 1C
Death in childhood, Respiratory failure, Joint contracture, Respiratory insufficiency OMIM:616081
Congenital Myopathy 14
Elbow flexion contracture, Apnea, Knee flexion contracture, Hip contracture, Death in infancy, Re... OMIM:618414
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aplasia/Hypoplasia of fingers, Dyspnea, Aspiration pneumonia ORPHA:141152
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Dystonia, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Metatropic Dysplasia
Epiphyseal dysplasia, Caudal appendage, Genu valgum, Flat acetabular roof, Dumbbell-shaped metaph... OMIM:156530
Glycine Encephalopathy 1
Hyperglycinemia, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Exertional dyspne... ORPHA:2032
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspnea, Recurrent re... OMIM:610910
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Pneumocystosis
Respiratory insufficiency, Pleural effusion, Interstitial pneumonitis, Multiple pulmonary cysts, ... ORPHA:723
Hyperprolinemia, Type I
Hyperprolinemia, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy OMIM:239500
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Bowing of the long bones, Death in adolescence, Short long ... OMIM:619751
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia... ORPHA:79126
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Apnea, Death in infancy OMIM:610992
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Severe Acute Respiratory Syndrome
Respiratory distress, Acute infectious pneumonia, Dyspnea, Hypoxemia, Respiratory failure requiri... ORPHA:140896
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Hyperactivity, Hypertriglyceridemia, Dystonia OMIM:615924
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Respiratory failure requiring assisted ventilation, Respiratory failure, Aspiration pneu... ORPHA:90117
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:254210
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Nemaline Myopathy 8
Flexion contracture, Respiratory failure, Death in infancy OMIM:615348
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Tachypnea, Dyspnea, Abnormal pulmon... ORPHA:178320
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Hyperextensibility of the finger joints, Respiratory insufficiency, Sclerosis of sk... OMIM:313420
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Tracheomalacia, Atelectasis, R... ORPHA:60032
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Respiratory failure, Limited knee flexion/extension, Limited elbow fle... ORPHA:266
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Apnea, Neonatal death, Split hand, Respiratory failure OMIM:610127
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Respiratory insufficiency, Respiratory failure, Camptodactyly of finger OMIM:614399
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Hyperactivity OMIM:618090
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia ORPHA:91359
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Joint hypermobility, Arachnodactyly, Missing ribs, Abnormal rib morphology,... ORPHA:2759
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Neonatal respiratory distress, Patellar hypoplasia, Apnea, ... ORPHA:2257
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hypoplasia of the capital femoral epiphysis, Respiratory failure, Joint hypermobility OMIM:600561
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Tachypnea, Acute infectious pneumonia, Hypoxemia, Res... ORPHA:264675
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, Hip dysplasia, Respiratory insufficiency due to muscle weakness, Rocker bottom fo... OMIM:611890
Laryngotracheoesophageal Cleft
Dyspnea, Cyanosis, Recurrent respiratory infections, Neonatal respiratory distress ORPHA:2004
High Altitude Pulmonary Edema
Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Hypoxemia ORPHA:330012
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory insufficiency, Respiratory distress, Respiratory insufficiency d... ORPHA:254875
Pontocerebellar Hypoplasia, Type 4
Congenital contracture, Respiratory failure, Death in infancy OMIM:225753
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Neonatal death, Adducted thumb, Arthrogryposis multiplex co... OMIM:619334
Stxbp1-Related Encephalopathy
Inability to walk, Tremor, Hyperactivity, Ataxia, Dystonia ORPHA:599373
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Nocturnal hypoventilation, Lipoid pneumonia, Respiratory failure OMIM:620326
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Staphylococcal Necrotizing Pneumonia
Pneumonia, Respiratory distress, Hypoxemia, Pleural effusion, Tachypnea, Pneumothorax, Acute infe... ORPHA:36238
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi... ORPHA:922
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Athetosis ORPHA:382
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Hyperactivity, Tremor, Ataxia OMIM:300983
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis, Polydactyly OMIM:615993
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Pulmonary hypoplasia, Respiratory distress, Horizontal ribs, Short ribs, Postax... OMIM:617895
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Hyperekplexia 4
Distal arthrogryposis, Adducted thumb, Camptodactyly, Flexion contracture, Respiratory failure OMIM:618011
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Death in infancy OMIM:616277
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Short 1st metacarpal, Respiratory insufficiency, Ectopic ossification in liga... OMIM:135100
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Flexion contracture, Abnormal pattern of ... ORPHA:77260
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis, Syndactyly ORPHA:2901
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho... ORPHA:50251
Odontochondrodysplasia 1
Metaphyseal cupping, Recurrent respiratory infections, Respiratory distress, Irregular epiphyses,... OMIM:184260
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Clubbing, Dyspnea, Hy... ORPHA:79127
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Acetabular dysplasia,... ORPHA:1143
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Arthrogryposis m... OMIM:616867
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Cyanos... ORPHA:199241
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Vasculitis in ... OMIM:620296
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Neonatal respiratory distress, Recurrent sinusitis, Chronic bronchitis, Resp... OMIM:608647
Meconium Aspiration Syndrome
Neonatal asphyxia, Atelectasis, Aspiration pneumonia, Respiratory distress, Pneumothorax, Hypoxemia ORPHA:70588
Choanal Atresia
Tracheomalacia, Respiratory distress, Cyanosis, Polydactyly, Craniosynostosis, Recurrent respirat... ORPHA:137914
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Abnormal blood gas level, Dyspnea, Hypoxemia, Respiratory failure ORPHA:70578
Juvenile Huntington Disease
Broad-based gait, Gait ataxia, Dystonia, Hyperactivity, Ataxia, Bradykinesia, Progressive cerebel... ORPHA:248111
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Tremor, Motor stereotypy, Hyperactivity, Par... OMIM:618718
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Ullrich Congenital Muscular Dystrophy
Slender finger, Elbow flexion contracture, Wrist hypermobility, Increased laxity of fingers, Knee... ORPHA:75840
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Respiratory insuf... ORPHA:60025
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Diaphanospondylodysostosis
Respiratory distress, Absent or minimally ossified vertebral bodies, Missing ribs, Narrow pelvis ... ORPHA:66637
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Exertional dyspnea, Dyspnea, Pulmonary fib... OMIM:178500
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Vacterl Association With Hydrocephalus
Absent thumb, Respiratory insufficiency, Radial club hand, Stillbirth, Respiratory failure OMIM:276950
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Pleural effusion, Cyanosis ORPHA:2414
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Neonatal respiratory distress, Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRC... OMIM:610978
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Clubbing, Dyspnea, Recurrent ... ORPHA:60033
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal thickenin... OMIM:614370
Cryptogenic Organizing Pneumonia
Respiratory distress, Cyanosis, Pneumothorax, Dyspnea, Hypoxemia ORPHA:1302
Restrictive Dermopathy 2
Respiratory distress, Cyanosis, Short clavicles, Overtubulated long bones OMIM:619793
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Tremor, Aggress... ORPHA:3077
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Succinic Acidemia
Respiratory distress OMIM:600335
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Dyspnea, Hypoxemia, Club... ORPHA:747
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress, Congenital contracture, Death in infancy OMIM:615042
Congenital Neuronal Ceroid Lipofuscinosis
Respiratory failure, Neonatal respiratory distress, Apnea, Split hand ORPHA:168486
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Lethal Recessive Chondrodysplasia
Respiratory distress, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses ORPHA:1423
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Respiratory insufficiency... ORPHA:1145
Avian Influenza
Pneumonia, Respiratory distress, Pleural effusion, Tachypnea, Pneumothorax, Dyspnea, Hypoxemia, R... ORPHA:454836
Odontochondrodysplasia
Cone-shaped epiphysis, Square pelvis bone, Respiratory distress, Death in infancy, Joint hypermob... ORPHA:166272
Sarcoidosis, Susceptibility To, 2
Emphysema, Hypoxemia, Pleural effusion, Pneumothorax, Clubbing, Dyspnea, Abnormal pulmonary inter... OMIM:612387
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Exertional dyspnea, Orthopnea, Respiratory failure ORPHA:98913
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure, Hip dislocation, Multiple joint contractures ORPHA:370968
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Overlapping fingers, Multiple joint contractures, Femur fracture, Cen... OMIM:618291
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Atelectasis, Respiratory distress, Death in infancy, Neonatal death, Joint hypermobility OMIM:300219
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N... OMIM:245400
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Bronchiolitis Obliterans
Pneumonia, Respiratory tract infection, Dyspnea, Bronchiolitis obliterans, Hypoxemia, Bronchiectasis ORPHA:1303
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Hypoplastic ilia, Metaphyseal cupping, Radial bowing, Stillbirth, Respiratory distress... OMIM:151210
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Respiratory distress, Recurrent acute respiratory tract infecti... OMIM:620011
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... ORPHA:596
Slc35A1-Cdg
Pneumonia, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Elevated bronchoalveolar lavage flu... OMIM:619611
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Achilles tendon contracture OMIM:604801
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory distress, Death in infancy, Tachypnea, Respiratory failure OMIM:614299
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture OMIM:617977
Breath-Holding Spells
Cyanosis OMIM:607578
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dystonia, Dysphagia, Impulsivity ORPHA:500180
Intermediate Nemaline Myopathy
Flexion contracture, Arthrogryposis multiplex congenita, Respiratory failure, Multiple prenatal f... ORPHA:171433
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Arthritis, Dyspnea, ... OMIM:616414
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Slender finger, Jaundice, Respiratory failure OMIM:250940
Cardiomyopathy, Dilated, 2H
Tachypnea, Cardiorespiratory arrest, Neonatal death OMIM:620203
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Acquired Methemoglobinemia
Respiratory distress, Hypoxemia, Dyspnea, Cyanosis ORPHA:464453
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait OMIM:615516
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Tracheomalacia, Atelectasis, Camptodactyly of finger, Cutaneous finge... ORPHA:896
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HR... ORPHA:99931
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Exertional dy... ORPHA:3348
Radio-Renal Syndrome
Chylothorax, Respiratory distress, Pleural effusion, Hypoplasia of the radius, Brachydactyly, Abn... ORPHA:3015
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Neonatal death, 2-3 toe syndactyly, Limb joint contracture, Flexion co... OMIM:618186
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In... ORPHA:95430
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Clinodactyly OMIM:300934
Leigh Syndrome, Nuclear
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Elevated circulating gamma-aminobutyric acid concentration, Aggressive b... OMIM:271980
Scedosporiosis
Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Septic arthritis, Pulmonary fibrosis,... ORPHA:449280
Larsen-Like Syndrome, Lethal Type
Neonatal death, Respiratory insufficiency, Tracheomalacia, Pulmonary hypoplasia OMIM:245650
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Hypophosphatasia
Respiratory insufficiency, Emphysema, Bowing of the long bones, Abnormal rib morphology, Craniosy... ORPHA:436
Chitayat Syndrome
Tracheomalacia, Respiratory distress, Hallux valgus, Brachydactyly, Abnormal pulmonary interstiti... OMIM:617180
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Central hypoventilation OMIM:618233
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... OMIM:620375
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress, Respiratory failure OMIM:312170
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis ORPHA:411703
Multiple Mitochondrial Dysfunctions Syndrome 3
Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insufficiency OMIM:615330
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency OMIM:601612
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Joint stiffness, Acrocyanosis ORPHA:2400
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P... OMIM:607625
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Neonatal respiratory distress, Hypopnea, Respiratory distress, Apnea, Death in childhood, Death i... OMIM:618426
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Nocturnal hypoventilation, Respiratory failure, Achilles tendon contracture OMIM:603689
Congenital Tricuspid Valve Dysplasia
Cyanosis, Tachypnea, Respiratory failure, Hypoxemia, Anomalous pulmonary venous return, Respirato... ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Proximal Spinal Muscular Atrophy
Recurrent aspiration pneumonia, Neonatal respiratory distress, Elbow flexion contracture, Multipl... ORPHA:70
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Alpha-1-Antitrypsin Deficiency
Dyspnea, Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection... ORPHA:244
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:609981
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Congenital Myasthenic Syndrome
Congenital hip dislocation, Intermittent episodes of respiratory insufficiency due to muscle weak... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Intermittent episodes of respiratory insufficiency due to muscle weak... ORPHA:98914
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Severe Congenital Nemaline Myopathy
Thin ribs, Adducted thumb, Multiple prenatal fractures, Flexion contracture, Arthrogryposis multi... ORPHA:171430
Cutis Laxa-Marfanoid Syndrome
Limitation of joint mobility, Emphysema, Arachnodactyly, Flexion contracture, Hip dislocation ORPHA:171719
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Knee flexion contracture, Hypoventilation, Achilles tendon contracture, F... OMIM:310200
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Angioedema ORPHA:100057
Laryngomalacia
Respiratory distress OMIM:150280
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Pulmonary hypoplasia OMIM:616733
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Decreased cervical spine flexion due to contractures of posterior cer... ORPHA:254361
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Respiratory distress, Cone-shap... OMIM:617102
C1Q Deficiency 2
Atelectasis, Facial erythema, Arthritis, Vasculitis in the skin, Recurrent lower respiratory trac... OMIM:620321
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Ventilator dependence with inability to wean, Tachypnea, Respiratory failure, Camptodactyly of fi... OMIM:604320
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Respiratory distress, Death in infancy, Death in adolescence, Respirat... OMIM:615512
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:613561
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Respiratory distress, Osteomyelitis, Broad ribs, Flaring of rib cage, Pu... OMIM:612852
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Joint contracture of the hand, Chylothorax, Respiratory distress, Death in childhood, Death in in... OMIM:620278
Diaphanospondylodysostosis
Pulmonary hypoplasia, Tracheomalacia, Respiratory insufficiency, Respiratory distress, Absent in ... OMIM:608022
Osteogenesis Imperfecta, Type X
Thin ribs, Osteopenia, Recurrent pneumonia, Respiratory distress, Broad ribs, Genu valgum, Fibula... OMIM:613848
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Tracheomalacia, Dumbbell-shaped fe... OMIM:156550
Achondroplasia
Pulmonary hypoplasia, Radial bowing, Flared metaphysis, Respiratory distress, Femoral bowing, Lim... OMIM:100800
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Respiratory insufficiency, Lymphocytic interstitial pn... ORPHA:133
Myopathy And Diabetes Mellitus
Respiratory distress, Achilles tendon contracture ORPHA:2596
Malaria
Respiratory distress ORPHA:673
Glycine Encephalopathy With Normal Serum Glycine
Elbow flexion contracture, Overlapping toe, Apnea, Hip contracture, Joint hypermobility, Flexion ... OMIM:617301
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Abnormal circulating biopterin concentration, Tremor, Abnormal circulating neo... OMIM:612716
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Exaggerated startle response ORPHA:3198
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Femoral bowing, Tibial bowing, Neonatal death, Palmoplantar cutis laxa, Cen... OMIM:616482
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Congenital hip dislocation, Respiratory distress, Arachnodactyly, Multiple prenatal f... OMIM:271225
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Generalized abnormality of skin, Pleural effusion, Dyspnea, Hypersensitivity pneumon... ORPHA:2902
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Achilles tendon contracture, Respiratory failure, Elbow contracture OMIM:606612
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Dyspnea, Hypoxemia, Clubbing, Pleural... ORPHA:2038
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pleural effusion, Pulmonary edema, Tachypnea, Respiratory failure, Hypoxemia ORPHA:542323
Brown-Vialetto-Van Laere Syndrome 1
Respiratory insufficiency, Respiratory distress, Nocturnal hypoventilation, Death in childhood, D... OMIM:211530
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Small hand, Upper limb undergrowth, Respiratory distress, Knee flexion... OMIM:608799
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Respiratory failure, Brachydactyly, Dysp... OMIM:617809
Arterial Tortuosity Syndrome
Rocker bottom foot, Cardiorespiratory arrest, Respiratory distress, Avascular necrosis of the cap... ORPHA:3342
Tetrasomy 5P
Respiratory distress, Overlapping toe, Cyanosis, Short hallux, Long fingers, Clinodactyly of the ... ORPHA:3309
Allergic Bronchopulmonary Aspergillosis
Emphysema, Bronchiectasis, Respiratory insufficiency ORPHA:1164
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Pontocerebellar Hypoplasia Type 1
Arthrogryposis multiplex congenita, Respiratory failure ORPHA:2254
Peroxisome Biogenesis Disorder 4A (Zellweger)
Epiphyseal stippling, Respiratory failure, Death in infancy OMIM:614862
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Tachypnea, Respiratory failure, Death in childhood OMIM:615838
Moebius Syndrome
Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger, Respiratory dis... OMIM:157900
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Cyanosis, Knee flexion contracture, Respiratory insufficiency OMIM:617239
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Knee flexion contracture, Cyanotic episode, Limb joint contracture, Cr... ORPHA:284417
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Flexion contracture, Respiratory failure, Death in infancy, Camptodactyly of finger ORPHA:1194
Meckel Syndrome 14
Pulmonary hypoplasia, Postaxial foot polydactyly, Cardiorespiratory arrest, Cyanosis, Decreased c... OMIM:619879
Multiple Mitochondrial Dysfunctions Syndrome 1
Neonatal death, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:605711
Combined Oxidative Phosphorylation Deficiency 11
Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory failure OMIM:614922
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Alg1-Cdg
Limitation of joint mobility, Respiratory failure ORPHA:79327
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Respiratory distress, Prolonged n... ORPHA:226313
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory distress, Respiratory tract infection, Respiratory insuffi... ORPHA:308552
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Shwachman-Diamond Syndrome 1
Neonatal respiratory distress, Proximal femoral epiphysiolysis, Respiratory distress, Metaphyseal... OMIM:260400
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Reduced subcutaneous adipose tissue ORPHA:363400
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Lethargy, Tongue thrusting, Limb tremor, Tortico... OMIM:608643
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Isolated Right Ventricular Hypoplasia
Dyspnea, Cyanosis, Hypoxemia, Clubbing ORPHA:439
Snakebite Envenomation
Erythema, Respiratory failure, Angioedema, Ecchymosis ORPHA:449285
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Arachnodactyly, Emphysema, Hip dislocation OMIM:614100
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Arachnodactyly, Dyspnea, Respiratory failure ORPHA:2707
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Wrist hypermobility, Joint hypermobility, Hip dysplasia, Finger joint hyper... ORPHA:544503
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia OMIM:602088
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis ORPHA:99825
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Bruising susceptibility, Respiratory failure ORPHA:3226
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dysplasia of the femoral head, Arachnodactyly, Radioulnar synostosis, Bowing of the long bones, O... ORPHA:536467
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Death in childhood, Exertional dyspnea, Respiratory insufficiency due to mu... OMIM:220110
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Neonatal respiratory distress, Respiratory insufficiency, Elbow flexion contracture,... OMIM:608836
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hyperlipidemi... ORPHA:247585
Congenital Myopathy 10B, Mild Variant
Recurrent pneumonia, Achilles tendon contracture, Respiratory failure, Elbow contracture OMIM:620249
X-Linked Creatine Transporter Deficiency
Self-mutilation, Hyperactivity, Abnormal circulating creatine concentration, Ataxia, Dystonia, At... ORPHA:52503
Riddle Syndrome
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Erythema, Bronchitis, Recurrent sinusitis, Tel... ORPHA:420741
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response ORPHA:309246
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Flexion contracture, Respiratory failure, Tapered finger OMIM:616505
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Dyspnea ORPHA:2357
Congenital Heart Block
Pleural effusion, Cyanosis ORPHA:60041
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Exaggerated startle response, Agitation OMIM:618056
Sandestig-Stefanova Syndrome
Camptodactyly, Respiratory failure, Rocker bottom foot, Clinodactyly OMIM:618804
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness, Hammertoe, Down-sloping shoulders OMIM:606071
Thoracic Dysplasia-Hydrocephalus Syndrome
Abnormal metaphysis morphology, Respiratory failure ORPHA:1861
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Neoplasm of the lung ORPHA:142
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections, Joint hypermobility, Flexion contracture, Respirator... ORPHA:98905
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
3-Methylglutaconic Aciduria, Type Viii
Hypopnea, Apnea, Death in infancy, Neonatal death, Respiratory arrest, Jaundice, Respiratory failure OMIM:617248
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Respiratory failure OMIM:607598
Meier-Gorlin Syndrome 1
Thin ribs, Joint contracture of the hand, Small hand, Cutaneous finger syndactyly, Genu valgum, P... OMIM:224690
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Long fingers, Clinodactyly of the 5th finger, Acrocyanosis, ... OMIM:614407
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly, Fragile skin, Clinodactyly of... ORPHA:158687
Peripartum Cardiomyopathy
Paroxysmal dyspnea, Exertional dyspnea, Orthopnea, Dyspnea, Respiratory failure ORPHA:563
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Flexion contracture, Generalized abnormality of skin, Respiratory insuffici... ORPHA:367
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea ORPHA:86812
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Rocker bottom foot, Adducted thumb ORPHA:89844
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Tachypnea, Hypoxemia, Anomalous pulmonary venous return ORPHA:860
Farber Disease
Recurrent upper respiratory tract infections, Short toe, Atelectasis, Short finger, Respiratory d... ORPHA:333
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Intention tremor, Dysmetria, Dystonia, Hyperactivity, Bradykinesia, Dysphagia, Dysdi... OMIM:610217
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility, Clubbing of fingers ORPHA:335
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation, Polydactyly ORPHA:314655
Cleidocranial Dysplasia 1
Aplastic clavicle, Hypoplastic scapulae, Neonatal respiratory distress, Cervical ribs, Respirator... OMIM:119600
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Respiratory insufficiency, Respiratory distress, Hypoventilation, ... ORPHA:98915
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Respiratory insufficiency, Hypoventilation, Intercostal muscle weakness, Recurrent l... ORPHA:258
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Tapered finger, Acrocyanosis, Short finger ORPHA:1867
Atrial Septal Defect, Ostium Primum Type
Clubbing of toes, Pulmonary artery dilatation, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea, ... ORPHA:99106
Glycogen Storage Disease Due To Acid Maltase Deficiency
Atelectasis, Respiratory insufficiency, Respiratory distress, Respiratory tract infection, Exerti... ORPHA:365
Tularemia
Respiratory distress, Pneumonia, Pleural effusion ORPHA:3392
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Gait... ORPHA:98794
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Fractured rib, Metaphyseal spurs, Respiratory distress, Femoral bowing, Un... OMIM:618188
Congenital Tracheal Stenosis
Neonatal asphyxia, Abnormal lung lobation, Respiratory distress, Anomalous origin of left pulmona... ORPHA:141127
Dravet Syndrome
Limited knee extension, Cyanotic episode, Tibial torsion ORPHA:33069
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture OMIM:618201
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Neonatal death, Jaundice, Pulmonary hypoplasia OMIM:231680
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of ... OMIM:114290
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Neonatal respiratory distress, Respiratory distress, Abnormal pulmonary inte... ORPHA:209905
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Overlapping toe, Joint hypermobility, Wrist flexion contracture, Flexion contracture of finger, L... ORPHA:254528
Pfeiffer Syndrome Type 2
Deviation of the thumb, Small hand, Toe syndactyly, Limitation of joint mobility, Finger syndacty... ORPHA:93259
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Abnormal epiphysis morphology, Slender long bone, Camptodactyly of finger, Res... ORPHA:2554
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level OMIM:605115
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Respiratory insufficiency, Death in childhood, Tachypnea, Recurrent respiratory infe... OMIM:618278
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Recurrent respiratory infections, Respiratory distress, Acetabular dysplasia... OMIM:617303
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere... OMIM:610042
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Recurrent respiratory infections, Respiratory distress, Overlapping toe, Overlapping fingers, Fle... OMIM:619383
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Apnea, Cyanosis, Postaxial polyda... ORPHA:2886
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Petechiae, Neonatal death, Purpura, Arthrogryposis multiplex congeni... OMIM:608013
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Congenital hip dislocation, Recurrent respiratory infections, Aspirati... ORPHA:2020
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia OMIM:202650
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
2-3 toe syndactyly, Clubbing of toes, Cyanosis, Clubbing of fingers ORPHA:3304
Congenital Disorder Of Glycosylation, Type Ig
Recurrent upper respiratory tract infections, Recurrent pneumonia, Short tibia, Sandal gap, Respi... OMIM:607143
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Broad ribs, Short ribs, Abnormal rib morphology, Postaxial hand polydactyly ORPHA:2519
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Osteopenia, Recurrent respiratory infections, Contractures of the large joints ORPHA:329178
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Agitation, Lethargy, Hyperactivity, Exaggerated startle response,... OMIM:620423
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Cranial hyperostosis, Flared metaphysis, Osteopetrosis, Decreased osteoclast count, I... OMIM:259720
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response OMIM:620114
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Irregular respiration OMIM:604377
Double Outlet Right Ventricle
Pulmonary artery atresia, Tachypnea, Cyanosis ORPHA:3426
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Craniofaciofrontodigital Syndrome
Osteopenia, Premature skin wrinkling, Respiratory distress, Joint hypermobility, Palmoplantar cut... ORPHA:363705
Sepsis In Premature Infants
Petechiae, Cyanosis, Dyspnea, Jaundice, Nasal flaring, Purpura ORPHA:90051
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Atelectasis, Generalized abnormality of skin, Osteomyelitis, Joint hypermobility, Cra... ORPHA:2314
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Cardiorespiratory arrest, Respiratory failure ORPHA:26791
Thyroid Lymphoma
Respiratory distress, Dyspnea ORPHA:97285
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Congenital hip dislocation, Recurrent pneumonia, Fractures of the long bones, Arthrogryposis mult... ORPHA:496641
Kallmann Syndrome-Heart Disease Syndrome
Osteoporosis, Osteopenia, Pulmonary artery hypoplasia, Cyanosis ORPHA:2326
Nocardiosis
Pneumonia, Respiratory distress, Osteomyelitis, Emphysema, Pleural effusion, Pneumothorax, Dyspne... ORPHA:31204
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Alfadhel Syndrome
Nasal flaring, Joint hypermobility OMIM:620655
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Limited hip movement, Delayed pubic bone ossification, Limited elbow moveme... OMIM:183900
Poems Syndrome
Sclerosis of foot bone, Sclerosis of hand bone, Metaphyseal sclerosis, Sclerosis of skull base, P... ORPHA:2905
Ulbright-Hodes Syndrome
Thin ribs, Pulmonary hypoplasia, Abnormal forearm bone morphology, Respiratory distress, Fibular ... ORPHA:3404
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Polydipsia, Decreased circulating renin level OMIM:613677
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Neonatal respiratory distress, Tracheomalacia, Clinodactyly, Respiratory distress, Brachydactyly,... OMIM:217980
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Joubert Syndrome 21
Apnea, Short ribs, Dyspnea, Respiratory failure, Pulmonary hypoplasia OMIM:615636
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Eosinophilic Granulomatosis With Polyangiitis
Respiratory insufficiency, Cutis marmorata, Abnormal pleura morphology, Purpura, Arthritis, Acroc... ORPHA:183
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Limitation of joint mobility, Purpura, Arthritis, Acrocyanosis, Urticaria ORPHA:343
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Aplastic clavicle, Bifid femur, Rickets, Broad distal phalanx of finger, Osteomalacia... ORPHA:2636
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Fanconi Renotubular Syndrome 5
Emphysema, Genu valgum, Hypophosphatemic rickets, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Tapered toe, Shoulder flexion contracture, Slender long bone, Respiratory distress, El... OMIM:620369
Pfeiffer Syndrome Type 3
Small hand, Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Broad thumb, Tracheo... ORPHA:93260
Combined Oxidative Phosphorylation Deficiency 3
Respiratory insufficiency, Death in childhood, Death in infancy, Dyspnea, Respiratory failure OMIM:610505
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Respiratory insufficiency, Emphysema, Joint hypermobility, Tachypnea, Thin b... OMIM:613658
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure ORPHA:803
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Pulmonary hypoplasia, Short toe, Atelectasis, Short finger, Respiratory ins... OMIM:269860
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress ORPHA:79312
Stt3B-Cdg
Respiratory distress ORPHA:370924
Absence Of The Pulmonary Artery
Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Orthopnea, Dyspnea, Recurrent respira... ORPHA:980
Eosinophilic Fasciitis
Acrocyanosis, Arthritis ORPHA:3165
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Laryngeal dystonia, Inability to walk, Dysmetria, Tremor, Ga... ORPHA:845
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Tetanus
Respiratory distress, Tachypnea, Stiff neck ORPHA:3299
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Pulmonary edema, Tachypnea ORPHA:31826
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection, Dyspnea, Respiratory failure, Hypercapnia, Respiratory fa... ORPHA:79138
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... ORPHA:348
Osteoglophonic Dysplasia
Osteopenia, Hypoplastic scapulae, Broad thumb, Short thumb, Camptodactyly of finger, Respiratory ... OMIM:166250
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Cyanosis, Exertional dyspnea, Dyspnea, Anomalous pulmonary venous return ORPHA:99104
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Respiratory distress, Pneumothorax, Short femur, Pulmonary hypoplasia OMIM:620306
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Respiratory failure ORPHA:445038
Esophageal Atresia
Clinodactyly, Bronchitis, Recurrent respiratory infections, Respiratory distress, Cyanosis, Episo... ORPHA:1199
Stüve-Wiedemann Syndrome
Osteopenia, Limitation of joint mobility, Camptodactyly of finger, Respiratory distress, Elbow fl... ORPHA:3206
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Respiratory distress, Episodic tachypnea, Tachypnea, Jaundice ORPHA:26793
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Cyanosis OMIM:619580
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Respiratory insufficiency OMIM:613845
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Ataxia OMIM:616881
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia OMIM:618314
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Apnea, Cyanosis, Death in infancy, Respiratory failure OMIM:252010
Listeriosis
Pneumonia, Respiratory distress, Osteomyelitis, Stiff neck, Septic arthritis, Jaundice, Respirato... ORPHA:533
Complete Atrioventricular Septal Defect
Cyanosis, Tachypnea, Intercostal retractions, Recurrent pneumonia ORPHA:1329
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Hypoglossia With Situs Inversus
Respiratory distress OMIM:612776
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Osteopenia, Pulmonary fibrosis, Premature graying of hair OMIM:620365
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Pleural effusion, Exertional dyspnea, Dy... OMIM:620233
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Pleural effusion, Cyanosis, Pulmonary edema OMIM:261740
Microlissencephaly-Micromelia Syndrome
Respiratory distress, 11 pairs of ribs, Adducted thumb ORPHA:50810
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Athetosis, Decreased circulating renin level OMIM:615474
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Myhre Syndrome
Cone-shaped epiphysis, Limitation of joint mobility, Short toe, Clinodactyly, Short finger, Radia... OMIM:139210
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Respiratory failure OMIM:620327
Necrotizing Enterocolitis
Apnea, Cyanosis ORPHA:391673
Carnitine Deficiency, Systemic Primary
Respiratory distress OMIM:212140
Rodrigues Blindness
Nasal flaring, Ectodermal dysplasia OMIM:268320
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level OMIM:103900
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Small hand, Respiratory distress, Joint hypermobility, Postaxial polydactyly, Hip dysplasia, Recu... OMIM:300968
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Isolated Atp Synthase Deficiency
Respiratory distress ORPHA:254913
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Structural Heart Defects And Renal Anomalies Syndrome
Partial anomalous pulmonary venous return, Overlapping toe, Cyanosis, Death in infancy OMIM:617478
Bacterial Toxic-Shock Syndrome
Pneumonia, Respiratory distress, Osteomyelitis, Respiratory tract infection, Ecchymosis, Tachypne... ORPHA:36234
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema, Chylothorax, Pleural effusion OMIM:617300
Hypocomplementemic Urticarial Vasculitis
Angioedema, Emphysema, Pleural effusion, Arthritis, Dyspnea ORPHA:36412
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Blepharospasm, Akinesia, Obsessive-compulsive trait, Tremor, Dystonia, Motor tics, G... OMIM:234200
Mitochondrial Trifunctional Protein Deficiency