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Gene: Abca3 MGI:1351617

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Gene Summary

Name:
ATP-binding cassette, sub-family A (ABC1), member 3
Synonyms:
ABC-C,  Abc3,  1810036E22Rik

Order Alleles

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
preweaning lethality, complete penetrance Abca3tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote Ambiguous
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Mesenteric lymph node  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote Ambiguous
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Trigeminal V nerve  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 0.0% (0 of 2)
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

24 Images

View images

Human diseases caused by Abca3 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.

The table below shows human diseases associated to Abca3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Cyanosis, Bronc... OMIM:610921
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Pulmonar... ORPHA:70587
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Exertional dyspn... ORPHA:2032

The table below shows human diseases predicted to be associated to Abca3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system... ORPHA:70589
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Asbestos Intoxication
Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Late inspiratory crackles, Pu... ORPHA:2302
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Hemoptysis, Pulmonary infiltrates ORPHA:64741
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Cyanosis, Bronc... OMIM:610921
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Absent bronchoalveola... OMIM:265120
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Cough, Dyspnea, Nodular pattern on pulmonary HRCT ORPHA:60026
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Abnormal lung morphology, Recurrent upper respiratory tr... ORPHA:60032
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Respiratory ins... ORPHA:3348
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Cough, Recurrent sinusitis, Absent outer dynein arms, Rhinorr... OMIM:615067
Spinal Muscular Atrophy, Type I
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:253300
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Atelectasis OMIM:300455
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, R... OMIM:616726
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Pulmonar... ORPHA:70587
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Maple Syrup Urine Disease
Respiratory insufficiency, Ataxia, Abnormality of the pharynx ORPHA:511
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Dystonia, Wheezing, Cough, Elevated bronchoalveolar lavage fluid neutrophil proportion, Ground-gl... OMIM:610978
Glaucoma-Sleep Apnea Syndrome
Sleep apnea, Respiratory insufficiency ORPHA:2085
Tracheopathia Osteoplastica
Recurrent pneumonia, Wheezing, Dyspnea, Cough, Hemoptysis OMIM:189961
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Cough, Respiratory insufficiency, Abn... ORPHA:724
Larynx Atresia
Recurrent respiratory infections, Respiratory insufficiency, Laryngomalacia ORPHA:1202
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Multiple Mitochondrial Dysfunctions Syndrome 1
Lethargy, Hypertension, Respiratory insufficiency, Respiratory failure, Pulmonary arterial hypert... OMIM:605711
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Reduced subcutaneous adipose tissue, Atelectasis, Recurrent pneu... OMIM:268500
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Meconium Aspiration Syndrome
Wheezing, Abnormal pulmonary thoracic imaging finding, Respiratory distress, Atelectasis, Neonata... ORPHA:70588
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy, Ataxia, Respiratory insufficiency OMIM:618224
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Lethargy, Tachypnea, Respiratory distress, Dyspnea, Parenchymal consolidation, P... ORPHA:36238
Congenital Pulmonary Airway Malformation
Abnormal pleura morphology, Respiratory insufficiency ORPHA:2444
Laryngeal Abductor Paralysis
Respiratory insufficiency, Laryngomalacia ORPHA:2808
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Laryngotracheoesophageal Cleft
Dyspnea, Aspiration, Cough, Laryngeal cleft, Laryngomalacia, Neonatal respiratory distress, Cyano... ORPHA:2004
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distre... ORPHA:1302
Pulmonary Hemosiderosis
Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Transient pul... OMIM:178550
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure, Respiratory failure OMIM:301021
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respirator... ORPHA:90117
Myasthenic Syndrome, Congenital, 18
Difficulty walking, Ataxia, Respiratory insufficiency OMIM:616330
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism, Warfarin-induced skin necrosis OMIM:176860
Lujo Hemorrhagic Fever
Coma, Lethargy, Dyspnea, Gastrointestinal hemorrhage, Cardiac arrest, Recurrent pharyngitis ORPHA:319213
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Febrile Infection-Related Epilepsy Syndrome
Cough, Lethargy, Sinusitis ORPHA:163703
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Acute infectious pneumonia, Respiratory failure requiring a... ORPHA:140896
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Bronchogenic Cyst
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Pneumonia, Atelectasis, Bronchogenic... ORPHA:2357
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Ataxia, Wide nasal bridge, Respiratory failure OMIM:610127
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Isolated Pierre Robin Syndrome
Neonatal respiratory distress, Abnormality of the pharynx, Upper airway obstruction ORPHA:718
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress, Abnormal trachea morphology, Laryngomalacia OMIM:150280
Butyrylcholinesterase Deficiency
Myocardial infarction, Respiratory failure requiring assisted ventilation, Respiratory failure, C... ORPHA:132
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Exertional dyspn... ORPHA:2032
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Obesity-Hypoventilation Syndrome
Cyanosis, Excessive daytime somnolence, Hypoventilation OMIM:257500
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... ORPHA:178320
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles... ORPHA:747
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, ... ORPHA:266
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
N-Acetylglutamate Synthase Deficiency
Confusion, Coma, Lethargy, Respiratory distress OMIM:237310
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Central apnea, Ataxia, Confusion, Cyanosis ORPHA:71277
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Acute infectious pneumonia, Respirat... ORPHA:264675
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Lethal Infantile Mitochondrial Myopathy
Neonatal respiratory distress, Lethargy, Cardiomyopathy ORPHA:254857
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Bronchiolitis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Cirrhosis, Familial
Pulmonary arterial hypertension, Jaundice, Lethargy, Hypertension OMIM:215600
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:618228
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Perching Syndrome
Respiratory distress, Depressed nasal bridge OMIM:617055
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Short nose, Respiratory distress, Respiratory failure, Anteverted nares ORPHA:1832
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Dyspnea, Pulmonary capillary hemangiomatosis, Elevated pulmonary arte... ORPHA:199241
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:614399
Chronic Beryllium Disease
Abnormality on pulmonary function testing, Ground-glass opacification, Dyspnea, Pulmonary fibrosi... ORPHA:133
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Death in infancy, Ataxia, Respiratory insufficiency, Respiratory failure, Dilated cardi... OMIM:614299
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Ataxia, Bradykinesia, Death in childhood, Hypertrophic cardiomyopathy OMIM:618683
Gaucher Disease Type 2
Dystonia, Respiratory distress, Cough, Abnormal pattern of respiration, Recurrent respiratory inf... ORPHA:77260
Cleft Larynx, Posterior
Cyanosis, Aspiration, Laryngeal stridor OMIM:215800
Waardenburg Syndrome Type 3
Acrocyanosis, Narrow nasal bridge, Tracheomalacia, Atelectasis ORPHA:896
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, ... OMIM:234810
Laryngeal Web, Familial
Laryngeal web, Stridor, Respiratory distress, Recurrent upper respiratory tract infections OMIM:150360
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Death in infancy, Recurrent respiratory infections, Respiratory insufficiency ORPHA:139406
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Wheezing, Respiratory tract infection, Bronch... ORPHA:244
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Restrictive ventilatory defect, Intraalveolar phospholipid accumulati... OMIM:300770
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Acquired Methemoglobinemia
Coma, Palpitations, Arrhythmia, Dyspnea, Respiratory distress, Hypoxemia, Confusion, Drowsiness, ... ORPHA:464453
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia OMIM:619099
Mitochondrial Complex I Deficiency, Nuclear Type 2
Difficulty walking, Apnea, Dystonia, Respiratory insufficiency OMIM:618222
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Lethargy, Ataxia OMIM:618225
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Abnormal pulmonary artery morpholog... ORPHA:2257
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis ORPHA:2111
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Tracheal atresia, Respiratory insufficiency OMIM:601612
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Wide nasal bridge, Respiratory failure, Anteverted nares, Depressed na... OMIM:313420
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Respiratory insufficiency, Laryngomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Dyspnea, Panacinar emphysema, Chronic bronchitis OMIM:613490
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Lethargy, Episodic ataxia, Wide nasal bridge, Apneic episodes precipitated by illness, ... OMIM:312170
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Lethargy, Respiratory insufficiency ORPHA:28
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Arthrogryposis Multiplex Congenita 6
Akinesia, Death in infancy, Neonatal death, Respiratory failure, Death in childhood OMIM:619334
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol... OMIM:618781
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Ataxia OMIM:618637
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Respiratory distress ORPHA:26792
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Evans Syndrome
Lethargy, Dyspnea, Epistaxis, Jaundice, Petechiae, Bruising susceptibility, Syncope ORPHA:1959
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Dystonia, Difficulty walking, Respiratory insufficiency due to muscle weakness... OMIM:611890
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Laryngomalacia, Upper airwa... ORPHA:137914
Ebola Hemorrhagic Fever
Coma, Restrictive ventilatory defect, Lethargy, Abnormal bleeding, Gastrointestinal hemorrhage, C... ORPHA:319218
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Difficulty walking, Ventilator dependence with inability to wean, Respirato... ORPHA:254875
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Pulmonary edema, Hypoxemia, Pu... ORPHA:70578
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia OMIM:617829
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Dystonia, Lethargy, Ataxia, Respiratory insufficiency OMIM:618226
Pulmonary Fibrosis, Idiopathic
Dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Exertional dyspnea, Cough, Elevated broncho... OMIM:178500
Scedosporiosis
Pleuritis, Pulmonary fibrosis, Decreased pulmonary function, Cough, Bronchial breath sound, Pneum... ORPHA:449280
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Tricuspid regurgita... ORPHA:2414
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Tracheal atresia, Respiratory insufficiency ORPHA:3346
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary arterial hypertension, Centrilobular ground-glass opacification on pulmonary HRCT, Pulm... OMIM:265450
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Recurrent respiratory infections, Respiratory insufficiency ORPHA:2432
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Ciliary dyskinesia, Cough, Absent outer dynein arms, Nasal polyposis, Recurrent r... OMIM:616037
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infectious pneum... ORPHA:60033
Congenital Laryngeal Web
Stridor, Respiratory distress, Laryngomalacia ORPHA:2374
Succinic Acidemia
Respiratory distress OMIM:600335
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Benign Samaritan Congenital Myopathy
Lethargy, Abnormal respiratory system physiology, Wide nasal bridge ORPHA:324581
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
3-Methylglutaconic Aciduria, Type Viii
Apnea, Dystonia, Respiratory failure, Death in infancy OMIM:617248
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Ataxia, Confusion, Paroxysmal lethargy OMIM:606777
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Difficulty walking, Respiratory insufficiency due to muscle weakness, Respirat... ORPHA:2590
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension, Respiratory insufficiency ORPHA:3188
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism, Warfarin-induced skin necrosis, Purpura OMIM:612336
Malaria
Reduced consciousness/confusion, Gait imbalance, Respiratory distress ORPHA:673
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy, Breathing dysregulation, Hypoventilation OMIM:618232
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Productive cough, Neonatal respiratory d... OMIM:615451
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Abnormal bleeding, Palpitations, Dyspnea, Ischemic stroke, Hemothorax, Coug... ORPHA:2038
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent res... OMIM:612649
Heparin-Induced Thrombocytopenia
Pulmonary embolism, Abnormal onset of bleeding, Myocardial infarction, Cerebral ischemia ORPHA:3325
Glycine Encephalopathy
Lethargy, Death in infancy, Hyperactivity OMIM:605899
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Cough, R... ORPHA:90060
Typhoid
Coma, Lethargy, Arrhythmia, Gastrointestinal hemorrhage, Cough, Epistaxis, Ataxia, Abnormal pulmo... ORPHA:99745
Holocarboxylase Synthetase Deficiency
Coma, Lethargy, Respiratory distress, Ataxia, Desquamation of skin soon after birth, Tachypnea ORPHA:79242
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Drowsiness, Respiratory failure, C... ORPHA:98913
Early Myoclonic Encephalopathy
Lethargy, Recurrent respiratory infections ORPHA:1935
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy ORPHA:79283
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Leukodystrophy, Hypomyelinating, 17
Inability to walk, Anteverted nares, Respiratory distress OMIM:618006
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Res... OMIM:614874
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Nipah Virus Disease
Recurrent pharyngitis, Cough, Respiratory distress, Coma ORPHA:99825
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Wide nasal bridge, Neonatal respiratory distress, Respiratory failure ORPHA:168486
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Respiratory distress OMIM:245590
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Central hypoventilation, Ataxia, Respiratory failure, Dysmetria OMIM:618233
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Cyanosis, Third heart sound, Crackles, Left-to-righ... ORPHA:1329
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Lethargy OMIM:610006
Marburg Hemorrhagic Fever
Abnormal bleeding, Lethargy, Gastrointestinal hemorrhage, Subconjunctival hemorrhage, Cough, Jaun... ORPHA:99826
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress OMIM:604377
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Lethargy, Death in infancy, Hypertrophic cardiomyopathy OMIM:619386
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Falls, Respiratory distress, Bradykinesia ORPHA:240085
Avian Influenza
Ground-glass opacification, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive... ORPHA:454836
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Death in childhood, Lethargy, Death in infancy OMIM:619064
Breath-Holding Spells
Cyanosis, Loss of consciousness OMIM:607578
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent inner and outer... OMIM:606763
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Respiratory insufficiency OMIM:618042
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Abnormal pu... OMIM:616414
Dengue Fever
Lethargy, Cardiorespiratory arrest, Gastrointestinal hemorrhage, Hypotension, Epistaxis, Petechia... ORPHA:99828
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Bronchiectasis, Ciliary dyskinesia, Cough, Abnormal axonemal organiz... OMIM:613808
Myopathy And Diabetes Mellitus
Inability to walk, Delirium, Respiratory distress, Progressive cerebellar ataxia, Tip-toe gait ORPHA:2596
Ciliary Dyskinesia, Primary, 26
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Recurrent resp... OMIM:615500
Ciliary Dyskinesia, Primary, 32
Bronchiectasis, Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Citrullinemia Type I
Coma, Lethargy, Ataxia, Torticollis, Tachypnea, Loss of consciousness ORPHA:247525
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Respiratory failure OMIM:616794
Multiple Carboxylase Deficiency
Coma, Lethargy, Respiratory distress, Ataxia, Tachypnea ORPHA:148
Gaba-Transaminase Deficiency
Lethargy, Death in childhood OMIM:613163
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Choanal atresia, Wide nasal bridge, Respiratory failure, Recurrent... ORPHA:2759
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Hypercapnia, Respiratory failure, Respiratory insufficiency OMIM:267480
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Immunodeficiency 54
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:609981
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Mercury Poisoning
Dystonia, Dyspnea, Respiratory distress, Interstitial pneumonitis, Confusion, Respiratory failure... ORPHA:330021
Ciliary Dyskinesia, Primary, 36, X-Linked
Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress, Recurrent respiratory ... OMIM:300991
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Ataxia ORPHA:622
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Coma, Delirium, Lethargy, Respiratory distress, Ataxia, Confusion, Drowsiness, Loss of consciousness ORPHA:927
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Recurrent bronchitis, Bronchiectasis, Recurrent si... OMIM:617091
Snakebite Envenomation
Cardiogenic shock, Abnormal bleeding, Intracranial hemorrhage, Hypotension, Epistaxis, Respirator... ORPHA:449285
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Gait disturbance, Lethargy, Respiratory failure, Ataxia OMIM:615838
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Coma, Dystonia, Lethargy, Respiratory distress ORPHA:289916
Eosinophilia, Familial
Recurrent bronchitis, Pulmonary infiltrates OMIM:131400
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Ataxia, Hypertension, Hypertriglyceridemia, Respiratory failure, Limb dystonia, Hype... ORPHA:363400
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy OMIM:613710
Autosomal Dominant Hyper-Ige Syndrome
Generalized abnormality of skin, Cough, Wide nasal bridge, Atelectasis, Recurrent respiratory inf... ORPHA:2314
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Lymphangioleiomyomatosis
Restrictive ventilatory defect, Dyspnea, Emphysema, Cough, Atelectasis, Chylothorax, Pulmonary ly... ORPHA:538
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Laryngotracheal stenosis, Cough, Upper airway obstruction, Neoplas... ORPHA:142
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Respiratory insufficiency OMIM:600333
Pyruvate Dehydrogenase Deficiency
Dystonia, Lethargy, Dyspnea, Gait disturbance, Ataxia, Wide nasal bridge, Tachypnea ORPHA:765
Monosodium Glutamate Sensitivity
Dyspnea, Flushing OMIM:231630
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis, Chronic sinusitis OMIM:604571
Aspergillosis
Pleuritis, Bronchiectasis, Cough, Pneumonia, Abnormal tracheobronchial morphology, Sinusitis, Abn... ORPHA:1163
Spinocerebellar Ataxia, X-Linked 3
Lethargy, Episodic respiratory distress, Death in infancy, Dysmetria, Episodic hypoventilation, R... OMIM:301790
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal respiratory distress, Neonatal death, Pulmonary hypoplasia OMIM:619003
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Lethargy ORPHA:26
Anti-Glomerular Basement Membrane Disease
Purpura, Cough, Respiratory insufficiency, Hemoptysis, Pulmonary infiltrates ORPHA:375
Niemann-Pick Disease, Type B
Diffuse reticular or finely nodular infiltrations, Dyspnea, Recurrent respiratory infections OMIM:607616
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Tularemia
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Pleural effusion, Cough, Pneumo... ORPHA:3392
Fructose-1,6-Bisphosphatase Deficiency
Coma, Apnea, Lethargy, Dyspnea, Hyperventilation OMIM:229700
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Wheezing, Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Abs... OMIM:613807
Hemorrhagic Fever-Renal Syndrome
Pleural effusion, Respiratory insufficiency, Atelectasis, Hemoptysis, Pulmonary infiltrates ORPHA:340
Slc35A1-Cdg
Pulmonary hemorrhage, Respiratory distress, Pneumonia, Subcutaneous hemorrhage, Hypoxemia ORPHA:238459
Atrial Septal Defect, Ostium Secundum Type
Exertional dyspnea, Atrial flutter, Abnormal left ventricular function, Pneumonia, Tricuspid regu... ORPHA:99103
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Respiratory insufficiency OMIM:215550
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Death in infancy, Short nose, Respiratory distress OMIM:615042
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Hypoventilation, Arrhythmia, Respiratory insufficiency, Congestive heart failure, R... OMIM:310200
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Abnormal pulmonary interstitial morphology, Bronchomalacia,... OMIM:617180
Peripartum Cardiomyopathy
Exertional dyspnea, Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Cardiogenic sh... ORPHA:563
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Dyspnea, Laryngeal stridor, Progressive cerebellar ataxia, Dysmetria OMIM:606183
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Respiratory insufficiency, Neonatal respiratory distress, Neonatal death, Death... OMIM:245400
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:610773
Hyperekplexia 4
Respiratory failure OMIM:618011
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Respiratory failure, Respiratory distress, Depressed nasal bridge OMIM:617895
Nephronophthisis 2
Pulmonary hypoplasia, Respiratory failure, Respiratory insufficiency OMIM:602088
Congenital Muscular Dystrophy With Intellectual Disability
Loss of ability to walk, Respiratory failure, Respiratory insufficiency ORPHA:370968
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Coma, Dystonia, Lethargy, Respiratory distress ORPHA:79312
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Gait ataxia, Ataxia, Bradykinesia, Oculogyric crisis, Generalized dystonia, Focal dysto... ORPHA:101150
Atrial Septal Defect, Ostium Primum Type
Exertional dyspnea, Decreased pulmonary function, Atrial flutter, Tricuspid regurgitation, Pulmon... ORPHA:99106
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Cryptosporidiosis
Respiratory tract infection, Wheezing, Respiratory distress, Cough, Respiratory failure, Hypoxemia ORPHA:1549
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Leigh Syndrome
Dystonia, Ataxia, Respiratory insufficiency, Respiratory failure, Abnormal pattern of respiration OMIM:256000
Ciliary Dyskinesia, Primary, 3
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Neonatal respiratory distress, Recurrent... OMIM:608644
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Lethargy, Hypoglycemic coma, Drowsiness, Tachycardia, Hypertrophic cardiomyopathy, ... ORPHA:276556
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Ataxia, Hypertrophic cardiomyopathy OMIM:246900
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Vitamin B12-Unresponsive Methylmalonic Acidemia
Coma, Lethargy, Ataxia, Respiratory insufficiency, Cardiomyopathy ORPHA:27
Pseudo-Torch Syndrome 2
Lethargy, Respiratory insufficiency, Petechiae, Cerebral hemorrhage, Bradycardia OMIM:617397
Farber Disease
Respiratory distress, Recurrent upper respiratory tract infections, Abnormal larynx morphology, R... ORPHA:333
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal bridge, Respirator... OMIM:617809
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Lethargy, Bradycardia, Depressed nasal bridge ORPHA:95717
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Respiratory arrest, Lethargy, Ventricular tachycardia OMIM:600649
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Scrub Typhus
Abnormal bleeding, Restrictive ventilatory defect, Lethargy, Dyspnea, Hypotension, Cough, Reduced... ORPHA:83317
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism, Purpura OMIM:612304
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy OMIM:617105
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Cough, Respiratory insufficiency, Cutis marmorata, Myocarditis, Sinusitis, Trans... ORPHA:183
Carnitine Palmitoyl Transferase 1A Deficiency
Coma, Lethargy, Arrhythmia, Sudden cardiac death, Hypertrophic cardiomyopathy, Loss of consciousn... ORPHA:156
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Res... ORPHA:444013
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Lethargy, Hypoglycemic coma, Drowsiness, Tachycardia, Hypertrophic cardiomyopathy, ... ORPHA:276575
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ventilator dependence with inability to wean, Respiratory failure requiring assisted ventilation,... ORPHA:254864
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy, Depressed nasal bridge OMIM:614862
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Dystonia, Gait disturbance, Bradykinesia, Progressive cerebellar ataxia, Resp... ORPHA:98755
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Pleural effusion, Confusion, Respiratory fail... ORPHA:542323
Meningococcal Meningitis
Lethargy, Purpura, Hypotension, Reduced consciousness/confusion, Drowsiness, Petechiae, Neonatal ... ORPHA:33475
Locked-In Syndrome
Recurrent respiratory infections, Respiratory insufficiency ORPHA:2406
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Lethargy, Hypoglycemic coma, Drowsiness, Tachycardia, Hypertrophic cardiomyopathy, ... ORPHA:276580
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Dyspnea, Bundle branch block, Suprav... ORPHA:99104
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Goodpasture Syndrome
Ground-glass opacification, Restrictive ventilatory defect, Pulmonary hemorrhage, Reticular patte... OMIM:233450
Primary Dystonia, Dyt4 Type
Dysdiadochokinesis, Respiratory distress, Gait disturbance, Blepharospasm, Laryngeal dystonia, To... ORPHA:98805
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Lethargy, Arrhythmia, Sudden episodic apnea, Hypotension, Respiratory insufficiency, Ventri... ORPHA:159
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Cardiomyopathy OMIM:201470
Hypereosinophilic Syndrome, Idiopathic
Pulmonary infiltrates OMIM:607685
Intermediate Nemaline Myopathy
Difficulty walking, Respiratory failure ORPHA:171433
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Laryngospasm, Abnormal respiratory system physiology ORPHA:803
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Coma, Drowsiness, Tachycardia, Lethargy ORPHA:276608
Congenital Myasthenic Syndrome
Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Di... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Di... ORPHA:98914
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Difficulty walking, Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Whim Syndrome
Respiratory tract infection, Bronchiectasis, Recurrent upper respiratory tract infections, Pneumo... ORPHA:51636
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Dyspnea, Reticular pattern on pulmonary HRCT, Premature graying of hair, Pulmonary fibrosis, Coug... OMIM:614742
Congenital Tracheal Stenosis
Abnormal lung lobation, Wheezing, Dyspnea, Respiratory distress, Abnormal lung morphology, Anomal... ORPHA:141127
Oromandibular Dystonia
Respiratory distress, Blepharospasm, Lingual dystonia, Laryngeal dystonia, Torticollis, Generaliz... ORPHA:93958
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Recurrent respiratory infections, Bruising susceptibility ORPHA:3226
Glycerol Kinase Deficiency
Coma, Lethargy, Hypertriglyceridemia, Loss of consciousness OMIM:307030
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Coma, Respiratory failure, Death in infancy, Ataxia OMIM:617186
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Lethargy, Hypoglycemic coma, Drowsiness, Tachycardia, Loss of consciousness, Syncope ORPHA:324575
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Emphysema, Pneumothorax ORPHA:122
Brown-Vialetto-Van Laere Syndrome 1
Dyspnea, Respiratory distress, Ataxia, Respiratory insufficiency, Stridor, Recurrent respiratory ... OMIM:211530
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Dystonia, Respiratory insufficiency, Atelectasis OMIM:618278
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Cough, Absent inner and outer dynein arms, Neonatal respiratory distress, Rhiniti... OMIM:618063
Severe Canavan Disease
Inability to walk, Lethargy ORPHA:314911
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Focal dystonia, Bradykinesia ORPHA:240103
Hereditary Methemoglobinemia
Athetosis, Cyanosis, Limb dystonia, Exertional dyspnea ORPHA:621
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Atelectasis, Intercostal muscle weakness, Respiratory... ORPHA:258
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Difficulty walking, Ataxia, Laryngeal stridor, Respiratory failure, Abnormal m... ORPHA:280210
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Lethargy, Death in infancy, Sudden cardiac death, Tachypnea, Respirato... OMIM:201475
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Coma, Lethargy, Apnea OMIM:210200
Hemochromatosis, Type 2A
Lethargy, Arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy OMIM:602390
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Respiratory failure requiring assisted ventilation, Respirator... ORPHA:555874
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia, Respiratory failure ORPHA:171430
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, H... ORPHA:79
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
Cardiogenic Shock
Coma, Low pulse pressure, Dyspnea, Right ventricular failure, Hypotension, Mitral regurgitation, ... ORPHA:97292
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Purpura OMIM:614514
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Difficulty walking, Gait disturbance, Leg dystonia, Oculog... ORPHA:255
Lassa Fever
Lethargy, Cardiorespiratory arrest, Gastrointestinal hemorrhage, Pleural effusion, Cough, Recurre... ORPHA:99824
Hyperlysinuria With Hyperammonemia
Coma, Lethargy OMIM:238750
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Coma, Lethargy, Exertional dyspnea, Ataxia, Loss of consciousness ORPHA:42
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory tract infection, Respiratory distress, Respiratory failure requiring assisted ventila... ORPHA:308552
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Gait ataxia, Bulbous nose, Ataxia, Respiratory failure, Dysmetria, Steppage gait, Anteverted nares OMIM:616505
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Difficulty walking, Cough, Waddling gait ORPHA:86812
Riddle Syndrome
Chronic sinusitis, Conjunctival telangiectasia, Restrictive ventilatory defect, Pulmonary fibrosi... ORPHA:420741
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Congenital Fibrinogen Deficiency
Abnormal bleeding, Loss of consciousness, Prolonged prothrombin time, Internal hemorrhage, Tachyc... ORPHA:335
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Thyroid Lymphoma
Upper airway obstruction, Stridor, Dyspnea, Respiratory distress ORPHA:97285
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Respiratory failure, Akinesia OMIM:607598
Primary Effusion Lymphoma
Pleural effusion, Dyspnea ORPHA:48686
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Lethargy, Cardiorespiratory arrest, Hypotension, Ventricular extrasystoles, Ventricular tac... OMIM:212138
Cyclic Vomiting Syndrome
Cardiomyopathy, Attention deficit hyperactivity disorder, Lethargy, Ataxia OMIM:500007
Glutamine Deficiency, Congenital
Apnea, Short nose, Wide nasal bridge, Erythema, Neonatal respiratory distress, Neonatal death, An... OMIM:610015
Criss-Cross Heart
Respiratory insufficiency, Pulmonic stenosis, Tricuspid stenosis, Mitral stenosis, Supravalvular ... ORPHA:1461
Carnitine Deficiency, Systemic Primary
Coma, Lethargy, Excessive daytime somnolence, Confusion, Congestive heart failure, Hypertrophic c... OMIM:212140
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Rift Valley Fever
Coma, Lethargy, Gastrointestinal hemorrhage, Purpura, Jaundice, Cardiac arrest, Bruising suscepti... ORPHA:319251
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dyspnea, Respiratory insufficiency due to muscle weakness, Respiratory failure, Dilat... ORPHA:352447
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Respiratory distress OMIM:616733
Odontochondrodysplasia
Respiratory distress, Death in infancy, Short nose, Depressed nasal bridge ORPHA:166272
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Hemothorax, Joint hemorrhage, Bruising susceptibility OMIM:262850
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Ataxia ORPHA:1861
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:618329
Mitochondrial Trifunctional Protein Deficiency
Coma, Lethargy, Arrhythmia, Toe walking, Respiratory insufficiency, Tricuspid regurgitation, Cong... ORPHA:746
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea, Lethargy OMIM:614857
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Crigler-Najjar Syndrome
Jaundice, Lethargy ORPHA:205
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Arrhythmia, Respiratory distress, Episodic tachypnea, Pneumonia, Ventricular tachycardi... ORPHA:26793
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Sleep apnea, Respiratory distress, Exertional dyspnea, Orthopnea, Re... ORPHA:365
Tetrasomy 5P
Respiratory distress, Short nose, Wide nasal bridge, Pulmonary hypoplasia, Pulmonary arterial hyp... ORPHA:3309
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Ataxia OMIM:618426
Congenital Lethal Erythroderma
Urticaria, Death in infancy, Respiratory insufficiency ORPHA:1954
Holocarboxylase Synthetase Deficiency
Coma, Lethargy, Tachypnea, Hyperventilation OMIM:253270
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea, Lethargy OMIM:615751
Hypophosphatasia
Emphysema, Respiratory insufficiency ORPHA:436
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency due to muscle weakness... ORPHA:70
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Respiratory failure ORPHA:75840
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Arrhythmia, Respiratory insufficiency, Congestive heart failure, Respiratory failure, D... OMIM:609015
Fructose-1,6-Bisphosphatase Deficiency
Coma, Dyspnea, Respiratory distress, Excessive daytime somnolence, Episodic tachypnea, Reduced co... ORPHA:348
Agnathia-Otocephaly Complex
Hypoplasia of the epiglottis, Respiratory distress, Tracheomalacia, Laryngeal hypoplasia OMIM:202650
Isovaleric Acidemia
Coma, Lethargy, Cerebellar hemorrhage OMIM:243500
Propionic Acidemia
Coma, Dystonia, Lethargy, Apnea, Cerebellar hemorrhage, Tachypnea, Cardiomyopathy OMIM:606054
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Productive cough, Neonatal respirat... OMIM:618699
Immunodeficiency 60
Pulmonary infiltrates, Recurrent sinopulmonary infections, Bronchiectasis, Pulmonary fibrosis OMIM:618394
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Bulbous nose, Wide nasal bridge ORPHA:261304
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Abnormal pleu... ORPHA:210136
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Respiratory failure, Pneumonia, Abnormal respiratory system phy... ORPHA:98905
Solar Urticaria
Wheezing, Dyspnea, Angioedema, Urticaria, Dermatographic urticaria ORPHA:97230
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hypoglycemic coma, Jaundice, Neonatal death, Pulmonary hypoplasia, Depresse... OMIM:231680
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Tachypnea, Ventilator dependence with inability to wean, Respiratory failure, Inspiratory stridor OMIM:604320
Galactosemia
Abnormal bleeding, Dystonia, Lethargy, Gait disturbance, Ataxia, Jaundice, Gait imbalance ORPHA:352
Histiocytoid Cardiomyopathy
Lethargy, Wolff-Parkinson-White syndrome, Cough, Atrial flutter, Atrial fibrillation, Junctional ... ORPHA:137675
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Lethargy, Gait imbalance OMIM:618120
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Respiratory distress, Short nose, Bruising susceptibility, Trache... ORPHA:536467
Inhalational Anthrax
Confusion, Dyspnea, Respiratory distress ORPHA:247257
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Combined Oxidative Phosphorylation Deficiency 2
Lethargy OMIM:610498
Interstitial Lung And Liver Disease
Intraalveolar phospholipid accumulation, Dyspnea, Cough, Respiratory insufficiency, Abnormal pulm... OMIM:615486
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Brain-Lung-Thyroid Syndrome
Dystonia, Respiratory distress, Pulmonary fibrosis, Pulmonary arterial hypertension, Ataxia, Abno... ORPHA:209905
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Lethargy, Cardiac arrest, Congestive heart failure ORPHA:49827
Yellow Fever
Lethargy, Arrhythmia, Cardiorespiratory arrest, Gastrointestinal hemorrhage, Hypotension, Jaundic... ORPHA:99829
Legionnaires Disease
Restrictive ventilatory defect, Abnormal lung morphology, Abnormal pleura morphology, Cough, Resp... ORPHA:549
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Respiratory failure, Chylothorax, Depressed nasa... ORPHA:3015
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Ethylene Glycol Poisoning
Coma, Episodic respiratory distress, Hypotension, Atrial fibrillation, Ataxia, Hypertension, Conf... ORPHA:31826
Infantile Liver Failure Syndrome 2
Cardiomyopathy, Jaundice, Lethargy, Prolonged prothrombin time OMIM:616483
Granulomatosis With Polyangiitis
Pleuritis, Cough, Subglottic stenosis, Elevated bronchoalveolar lavage fluid neutrophil proportio... OMIM:608710
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Neonatal death, Pulmonary hypoplasia, Respiratory failure, Pneumothorax, De... OMIM:266910
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Obstructive sleep apnea, Stridor, Respiratory failure OMIM:606071
Myopathy, Centronuclear, X-Linked
Neonatal respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory fa... OMIM:310400
Double Outlet Right Ventricle
Pulmonary artery atresia, Tachypnea, Cyanosis, Depressed nasal bridge ORPHA:3426
Carnitine Palmitoyltransferase I Deficiency
Coma, Arrhythmia, Lethargy, Transient hyperlipidemia OMIM:255120
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Arrhythmia, Death in infancy, Congestive heart failure, Respiratory failure, Hypertrophic cardiom... ORPHA:1194
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Short-Rib Thoracic Dysplasia 12
Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency, Atelectasis OMIM:269860
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Warfarin-induced skin necrosis, Purpura ORPHA:745
Chiari Malformation Type Ii
Inspiratory stridor, Cyanosis, Ataxia OMIM:207950
Hereditary Angioedema Type 1
Dyspnea, Abnormal respiratory system morphology, Respiratory distress, Inspiratory stridor, Phary... ORPHA:100050
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Hemochromatosis Type 2
Dilated cardiomyopathy, Lethargy ORPHA:79230
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Telangiectasia, Ataxia, Depressed nasal bridge OMIM:608799
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Dystonia, Truncal ataxia, Atrioventricular block, Bradycardia, Prominent nose OMIM:614407
Leukoencephalopathy With Vanishing White Matter