banner
Genes Phenotypes Help, News, Blog

Gene: Slc5a3 MGI:1858226

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
solute carrier family 5 (inositol transporters), member 3
Synonyms:
Smit1

Order Alleles

IMPC Data Collections

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

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.

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 Slc5a3 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 Slc5a3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis, Normal interictal EEG OMIM:607745
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis, Normal interictal EEG OMIM:601764
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Abnormal peripheral action potential amplitude, Abnormality of the seventh ... ORPHA:90117
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Respiratory insufficiency, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... OMIM:605253
Apnea, Central Sleep
Irregular respiration, Cyanosis, Sleep apnea, Abnormal pattern of respiration OMIM:207720
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy OMIM:610992
Asbestos Intoxication
Cyanosis, Oxygen desaturation on exertion, Pleural thickening, Decreased DLCO, Nonproductive coug... ORPHA:2302
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Respiratory insufficiency, Apnea, Central hypoventilation, EEG abnormality OMIM:300673
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Laryngotracheal Angioma
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing ORPHA:137935
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Bronchopulmonary Dysplasia
Central apnea, Hyperoxemia, Pulmonary sequestration, Tracheobronchomalacia, Abnormal respiratory ... ORPHA:70589
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Death in infancy OMIM:618235
Mitochondrial Complex I Deficiency, Nuclear Type 9
Breathing dysregulation, Neonatal death, Hypoventilation OMIM:618232
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Respiratory insufficiency ORPHA:640
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Respiratory distress, Death in infancy OMIM:616341
Charcot-Marie-Tooth Disease, Type 4J
Onion bulb formation, Axonal loss, Decreased motor nerve conduction velocity, Peripheral hypomyel... OMIM:611228
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Death in infancy, Peripheral axonal neuropathy, Central apnea, Respira... OMIM:611722
Acute Interstitial Pneumonia
Cyanosis, Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural ho... ORPHA:79126
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Death in infancy OMIM:254120
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:118210
Ciliary Dyskinesia, Primary, 21
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... OMIM:615294
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par... OMIM:610921
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decr... OMIM:601098
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Apnea, Respiratory failure, Death in infancy OMIM:613869
Perching Syndrome
Cyanosis, Respiratory distress OMIM:617055
Chronic Pneumonitis Of Infancy
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... ORPHA:91359
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Edema, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction, Palpebral edema, Tongue edema, Pharyngeal edema, ... ORPHA:100057
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased sensory nerve conductio... OMIM:608323
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Neonatal deat... OMIM:265120
Neuronopathy, Distal Hereditary Motor, Type Vc
Decreased compound muscle action potential amplitude OMIM:619112
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Cyanosis, Hydrops fetalis, Chylopericardium, Respiratory distres... ORPHA:2414
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Motor conduction block, Decreased nerve conduction velocity, ... ORPHA:2932
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Irr... OMIM:601382
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... OMIM:615872
Haddad Syndrome
Polyhydramnios, Death in infancy, Central sleep apnea, Breathing dysregulation, Oligohydramnios, ... ORPHA:99803
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Respiratory distress, Cough, Respiratory failure, Tachypnea OMIM:263000
Nemaline Myopathy 8
Respiratory failure, Death in infancy, Facial palsy OMIM:615348
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis, Focal EEG discharges with secondary generalization, Increased theta f... ORPHA:1949
Immunodeficiency 95
Recurrent respiratory infections, Respiratory distress, Respiratory failure, Recurrent viral uppe... OMIM:619773
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Sleep apnea, Respiratory failure, Central hypoventilation OMIM:618233
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Neonatal death OMIM:615228
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:607706
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, R... ORPHA:60032
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent pneumonia, Cough, Recurrent low... OMIM:616726
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Parenchymal consolidation, Elevated bronchoalveolar lavage fluid neutrophi... OMIM:610978
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress ORPHA:141152
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:618184
Congenital Myopathy 14
Polyhydramnios, Death in infancy, Apnea, Respiratory failure, Respiratory insufficiency due to mu... OMIM:618414
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Decreased compound muscle action potential amplitude, Compound muscle action potential amplitude ... OMIM:616040
Infant Acute Respiratory Distress Syndrome
Cyanosis, Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory fai... ORPHA:70587
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Idiopathic Chronic Eosinophilic Pneumonia
Parenchymal consolidation, Abnormal pulmonary thoracic imaging finding, Asthma, Wheezing, Hypoxem... ORPHA:2902
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory distress, Restrictive ventilatory defect, Abnormal motor n... OMIM:614399
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Abnormality of somatosensory evoked potentials, Diffuse peripheral demyel... ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:615067
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination OMIM:608236
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Recurrent respiratory infections, Death in childhood, Respiratory failure OMIM:253300
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decre... OMIM:610913
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Cryptogenic Organizing Pneumonia
Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect... ORPHA:1302
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia, Optic atrophy OMIM:619057
Ravine Syndrome
Apnea, Abnormal auditory evoked potentials ORPHA:99852
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress ORPHA:2004
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Pneumothorax, Aspiration pneumonia, Abnormal pulmonary thoracic ... ORPHA:70588
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude OMIM:605726
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:607734
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Aspiration pneumonia, EEG abnormality, Respiratory distress, Apnea, Recurrent pn... ORPHA:314655
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity OMIM:620111
Pontocerebellar Hypoplasia Type 4
Polyhydramnios, Respiratory failure requiring assisted ventilation, Central apnea ORPHA:166063
Postpoliomyelitis Syndrome
Respiratory insufficiency, Hypoventilation ORPHA:2942
Myasthenic Syndrome, Congenital, 20, Presynaptic
Apnea, Hypoventilation, Stridor OMIM:617143
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells ORPHA:65684
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Hypertrophic nerve changes DECIPHER:29
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Optic atrophy, Decr... OMIM:609260
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... ORPHA:140896
Succinic Acidemia
Respiratory distress OMIM:600335
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy OMIM:610100
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Facial palsy OMIM:604801
Ullrich Congenital Muscular Dystrophy 2
Nocturnal hypoventilation OMIM:616470
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:605588
Benign Familial Infantile Epilepsy
Apnea, Cyanosis, Interictal epileptiform activity, Normal interictal EEG ORPHA:306
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Respiratory insufficiency, Abnormality of peripheral nerve conduction, Decreased amplitude of sen... ORPHA:90103
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Segmental peripheral demyelination/remye... OMIM:162500
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Nocturnal hypoventilation, Hypoxemia, Apnea, Hypercapnia, Central hypoventilation OMIM:209880
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Peripheral axonal neuropathy, Respiratory failure, Neonatal death, Abnormal ante... OMIM:611890
Perry Syndrome
Central hypoventilation ORPHA:178509
Developmental And Epileptic Encephalopathy 71
EEG with burst suppression, Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respira... OMIM:618328
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Perry Syndrome
Respiratory insufficiency, Respiratory arrest, Hypoventilation, Central hypoventilation OMIM:168605
Mogs-Cdg
Polyhydramnios, Hypoventilation, Pulmonary edema, Absent brainstem auditory responses, Respirator... ORPHA:79330
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Hypsarrhythmia, Apneic episodes in infancy ORPHA:500545
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Neonatal... OMIM:619751
Brown-Vialetto-Van Laere Syndrome 1
Respiratory insufficiency, Nocturnal hypoventilation, Respiratory distress, Dyspnea, Stridor OMIM:211530
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:254210
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609311
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Exertional dyspnea, Bilateral facial palsy, Pulmonary fibrosis, Atelectasis, Bronchiolitis ORPHA:254361
Tracheobronchopathia Osteochondroplastica
Bronchitis, Respiratory insufficiency, Recurrent respiratory infections, Productive cough, Exerti... ORPHA:3348
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity ORPHA:101075
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:613287
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Muscular Dystrophy, Duchenne Type
Hypoventilation, Restrictive ventilatory defect, Respiratory failure, Obstructive sleep apnea, Re... OMIM:310200
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Chronic sinusitis, Atelectasis OMIM:300455
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:214400
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, EEG abnormality, Central apnea ORPHA:71277
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Motor axonal neuropathy, EEG abnormality, Sensory axonal neuropathy, Decreased ner... ORPHA:457205
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of large periphe... OMIM:605285
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Peripheral axonal neuropathy OMIM:608895
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:600882
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Polyhydramnios, Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Charcot-Marie-Tooth Disease, Type 4C
Segmental peripheral demyelination, Decreased motor nerve conduction velocity, Peripheral axonal ... OMIM:601596
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:180800
Congenital Disorder Of Glycosylation, Type Iib
EEG with burst suppression, Hypoventilation, Generalized edema OMIM:606056
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Death in adolescence, Respiratory insufficiency due to muscle weakness OMIM:300717
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity OMIM:612577
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor ORPHA:98890
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Hypoxemia, Inspiratory crackles, Restrictive ventilatory defect, Dyspnea, Cough, Pneumo... OMIM:610910
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:605809
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Decr... OMIM:619279
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Chronic axonal neuropathy OMIM:606595
Pneumocystosis
Respiratory insufficiency, Parenchymal consolidation, Exertional dyspnea, Interstitial pneumoniti... ORPHA:723
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Null Syndrome
Abnormality of peripheral nerve conduction, Peripheral demyelination, Optic atrophy, Decreased ne... ORPHA:280234
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Recurrent upper respir... ORPHA:922
Pleural Mesothelioma
Abnormal respiratory system physiology, Respiratory distress, Pleural effusion, Dyspnea, Cough ORPHA:50251
Epilepsy, Early-Onset, Vitamin B6-Dependent
Respiratory insufficiency, Apnea, EEG with burst suppression OMIM:617290
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:600361
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Resp... ORPHA:264675
Myasthenic Syndrome, Congenital, 21, Presynaptic
Respiratory insufficiency, Apnea OMIM:617239
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FEV1/FVC ratio, Decreased force... ORPHA:1303
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity OMIM:615575
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:616081
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Respiratory tract infection, Onion bulb formation, Decreased motor nerve conduction velocity, Int... OMIM:218000
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Exertional dyspnea, Decreased size of nerve terminals, Orthopnea, Restrictive ventilato... ORPHA:98913
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:601455
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypoventilation, EEG with abnormally slow frequencies, Recurrent pneumonia, EEG with focal epilep... OMIM:618493
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Bronchiectasis, Pericardial effusion, Respiratory distress, Chronic pulmonary obstr... ORPHA:411703
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Decreased nerve conduction velocity, Peripheral axonal neuropathy ORPHA:101082
Lethal Recessive Chondrodysplasia
Polyhydramnios, Edema, Respiratory distress ORPHA:1423
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Ganglioneuroma
Central hypoventilation ORPHA:251992
Synaptic Congenital Myasthenic Syndromes
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Exertional dyspnea, ... ORPHA:98915
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal respiratory system phys... ORPHA:266
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Apnea, Sensory axonal neuropathy, Respiratory failure, Neonatal death OMIM:610127
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity OMIM:183050
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity ORPHA:1368
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:118220
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Onion... OMIM:607684
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity ORPHA:352675
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Degeneration of anterior horn cells, Peripheral axonal degeneration, Ventilator dependence with i... OMIM:604320
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Abnormal motor evoked potentials ORPHA:99939
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Restrictive ventilatory defect, Peripheral axonal neur... ORPHA:101077
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Motor conduction block, Decreased nerve conduction velocity, Restricti... ORPHA:99948
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity ORPHA:276435
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Optic disc pallor, Death in infancy OMIM:618240
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity ORPHA:101078
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
Classic Multiminicore Myopathy
Restrictive ventilatory defect, Nocturnal hypoventilation, Intermittent episodes of respiratory i... ORPHA:324604
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Spinal Muscular Atrophy, X-Linked 2
Respiratory insufficiency, Degeneration of anterior horn cells, Facial palsy, Decreased compound ... OMIM:301830
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Restrictive ventilatory defect, Reduced forced vital capacity, Nocturnal hypoventilation OMIM:607155
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Motor axonal neuropathy, Axonal loss OMIM:620068
Monosodium Glutamate Sensitivity
Dyspnea, Flushing OMIM:231630
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential OMIM:618400
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude OMIM:619519
Congenital Myopathy 3 With Rigid Spine
Restrictive ventilatory defect, Reduced vital capacity, Nocturnal hypoventilation OMIM:602771
Solar Urticaria
Dermatographic urticaria, Edema, Dyspnea, Periorbital edema, Angioedema, Wheezing, Urticaria ORPHA:97230
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of peripheral my... OMIM:607831
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:118200
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity ORPHA:1188
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Decreased nerve conduction velocity, Myelin outfoldings OMIM:615284
Proximal Spinal Muscular Atrophy
Respiratory failure, Hypoventilation, Recurrent aspiration pneumonia, Restrictive ventilatory def... ORPHA:70
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Autosomal Dominant Spastic Paraplegia Type 17
Abnormal motor nerve conduction velocity ORPHA:100998
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Death in infancy OMIM:616277
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Respiratory failure, Axonal loss, Pulmonary hypoplasia, Peripheral axonal neuropathy, Neonatal re... OMIM:616867
Gaucher Disease Type 2
Abnormal pattern of respiration, Cough, Respiratory distress ORPHA:77260
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Respiratory insufficiency, Congenital laryngeal stridor, Decreased nerve conduction velocity, Neo... OMIM:618356
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Cerebral edema, EEG with burst suppression, Hypsarrhythmia, Apnea ORPHA:439218
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Joubert Syndrome 23
Apnea, Tachypnea OMIM:616490
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity ORPHA:101081
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Axonal loss, Peripheral axonal degeneration, Decreased number of small... ORPHA:101097
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Motor axonal neuropathy, Axonal loss, Dec... ORPHA:98856
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity OMIM:302802
Pontocerebellar Hypoplasia Type 1
Congenital laryngeal stridor, Optic atrophy, Degeneration of anterior horn cells, Peripheral axon... ORPHA:2254
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Respiratory insufficiency, Decreased number of peripheral myelinated nerve fibers, Decreased moto... OMIM:615490
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... OMIM:614436
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Acute Lung Injury
Hypoxemia, Respiratory distress, Edema, Dyspnea, Respiratory failure, Pneumonia, Tachypnea ORPHA:178320
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Decreased compound muscle action potential amplitude, Dyspnea, Facial palsy OMIM:603511
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity OMIM:619862
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Respiratory distress, Nonimmune hydrops fetali... OMIM:617300
Typical Nemaline Myopathy
Respiratory insufficiency, Polyhydramnios, Nocturnal hypoventilation ORPHA:171436
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity OMIM:618404
Congenital Neuronal Ceroid Lipofuscinosis
Respiratory failure, EEG with burst suppression, Central sleep apnea, Apnea, Neonatal respiratory... ORPHA:168486
Staphylococcal Necrotizing Pneumonia
Pulmonary infiltrates, Parenchymal consolidation, Pneumothorax, Pleural empyema, Hypoxemia, Respi... ORPHA:36238
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Abnormal lower motor neuron morphology, Recurrent aspiration pneumonia, Resp... ORPHA:2590
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure, Facial palsy ORPHA:370968
Folinic Acid-Responsive Seizures
Hypsarrhythmia, Multifocal epileptiform discharges, Respiratory distress, Apnea, EEG with general... ORPHA:79097
Bronchogenic Cyst
Abnormal pleura morphology, Pulmonary cyst, Abnormal pulmonary thoracic imaging finding, Dyspnea,... ORPHA:2357
Spinocerebellar Ataxia Type 1
Respiratory failure, Abnormal nerve conduction velocity, Abnormality of somatosensory evoked pote... ORPHA:98755
Ullrich Congenital Muscular Dystrophy 1
Respiratory insufficiency, Nocturnal hypoventilation, Respiratory insufficiency due to muscle wea... OMIM:254090
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination OMIM:249900
Cednik Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:66631
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pedal edema, Cyanosis, Exertional dyspnea, Hemothorax, Pulmon... ORPHA:199241
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Decre... ORPHA:79127
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Primary Pulmonary Hypoplasia
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Apnea, Restrictive ventilatory ... ORPHA:2257
Intermediate Nemaline Myopathy
Facial diplegia, Respiratory failure, Facial palsy ORPHA:171433
Congenital Myopathy 11
Neonatal respiratory distress, Polyhydramnios, Apneic episodes in infancy OMIM:619967
Primary Ciliary Dyskinesia
Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Peribronchova... ORPHA:244
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:145900
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity ORPHA:2926
Choanal Atresia
Cyanosis, Abnormal nasal mucus secretion, Respiratory distress, Chronic sinusitis, Upper airway o... ORPHA:137914
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Reticular ... ORPHA:99931
Lethal Congenital Contracture Syndrome 5
EEG with burst suppression, Respiratory insufficiency, Decreased nerve conduction velocity, Death... OMIM:615368
Wild Type Abeta2M Amyloidosis
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Axonal loss ORPHA:85446
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Stevenson-Carey Syndrome
Central hypoventilation OMIM:611961
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Pulmonary arterial hypertension, Cerebral edema, Hypoventilation, Aspi... ORPHA:258
Acquired Methemoglobinemia
Dyspnea, Cyanosis, Hypoxemia, Respiratory distress ORPHA:464453
Leigh Syndrome With Cardiomyopathy
Apnea, Respiratory failure, Respiratory distress, Central hypoventilation ORPHA:70474
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Dyspnea, Decreased nerve conduction velocity, Peripheral axonal neuropathy ORPHA:435387
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:614895
Cap Myopathy
Central hypoventilation ORPHA:171881
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Peripheral demyelination ORPHA:71211
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis, Atelectasis ORPHA:896
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Charcot-Marie-Tooth Disease Type 4G
Motor conduction block, Decreased motor nerve conduction velocity, Decreased distal sensory nerve... ORPHA:99953
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Bethlem Myopathy
Reduced maximal expiratory pressure, Hypoventilation ORPHA:610
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Rhinitis ORPHA:93476
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity OMIM:614932
Ciliary Dyskinesia, Primary, 5
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:608647
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Respiratory distress, Tachypnea ORPHA:45452
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Aspiration pneumonia, Apnea, Restrictive ventilatory defect, Hypopnea OMIM:619482
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:604563
Auriculocondylar Syndrome 2
Apnea, Snoring, Respiratory distress OMIM:614669
Developmental And Epileptic Encephalopathy 90
EEG with burst suppression, Hypsarrhythmia, Apneic episodes in infancy OMIM:301058
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Death in childhood OMIM:618225
Krabbe Disease
Decreased nerve conduction velocity, Peripheral demyelination, Optic atrophy, EEG abnormality OMIM:245200
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Optic atrophy, Death in infancy, Respiratory distress, Respiratory fai... OMIM:614299
Primary Effusion Lymphoma
Pleural effusion, Dyspnea, Pericardial effusion ORPHA:48686
Malaria
Respiratory distress ORPHA:673
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis, EEG abnormality OMIM:261680
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Hypoxemia, Crackles, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO ORPHA:747
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology, Sensory ... ORPHA:139578
Prader-Willi Syndrome
Polyhydramnios, Cutaneous photosensitivity, Hypoventilation, Oligohydramnios, Sleep apnea OMIM:176270
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Respiratory distress, Atelectasis, Death in infancy OMIM:300219
X-Linked Centronuclear Myopathy
Polyhydramnios, Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress ORPHA:596
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... ORPHA:254875
Leigh Syndrome
Respiratory insufficiency, Respiratory failure, Abnormal pattern of respiration, Optic atrophy OMIM:256000
Avian Influenza
Pulmonary infiltrates, Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Miscarria... ORPHA:454836
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure, Optic atrophy OMIM:615330
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity OMIM:118300
Hyperekplexia 4
Respiratory failure, Hypsarrhythmia OMIM:618011
Hereditary Angioedema Type 1
Dermatographic urticaria, Edema of the dorsum of hands, Intestinal edema, Respiratory distress, D... ORPHA:100050
Joubert Syndrome 33
Apnea OMIM:617767
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory failure requiring assisted ventilation, Ventilator dependence with inability to wean,... ORPHA:254864
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Neonatal death, Apnea, Erythema OMIM:610015
Sarcoidosis, Susceptibility To, 2
Pulmonary infiltrates, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morpholog... OMIM:612387
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential, Stridor, Intercostal muscle weakness, Respirator... OMIM:606071
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Nemaline Myopathy 2
Apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness OMIM:256030
Slc35A1-Cdg
Pneumonia, Hypoxemia, Respiratory distress, Subcutaneous hemorrhage ORPHA:238459
Adult Acute Respiratory Distress Syndrome
Pulmonary infiltrates, Pulmonary edema, Hypoxemia, Dyspnea, Abnormal blood gas level, Respiratory... ORPHA:70578
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Decreased compound muscle action potential amplitude, Peripheral demyelination OMIM:618279
Congenital Myasthenic Syndrome
Cyanosis, Episodic respiratory distress, Polyhydramnios, EEG with polyspike wave complexes, Centr... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Episodic respiratory distress, Polyhydramnios, EEG with polyspike wave complexes, Centr... ORPHA:98914
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Respiratory distress, Death in infancy OMIM:615042
Restrictive Dermopathy 2
Cyanosis, Respiratory distress OMIM:619793
Pulmonary Alveolar Microlithiasis
Cyanosis, Respiratory insufficiency, Pneumothorax, Bronchiectasis, Oxygen desaturation on exertio... ORPHA:60025
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Motor axonal neuropathy ORPHA:48431
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy, Facial paralysis, R... OMIM:605711
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:603472
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Neuronopathy, Distal Hereditary Motor, Type X
Decreased compound muscle action potential amplitude, Bronchiectasis, Bruising susceptibility OMIM:620080
Thyroid Lymphoma
Upper airway obstruction, Dyspnea, Respiratory distress, Stridor ORPHA:97285
Myasthenic Syndrome, Congenital, 24, Presynaptic
Respiratory insufficiency, Apnea OMIM:618198
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity OMIM:159550
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Decreased number of large p... OMIM:162400
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypoventilation, Jaundice, Anasarca, Tracheomalacia, Ascites OMIM:203700
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, De... OMIM:619026
Joubert Syndrome 30
Apnea, Tachypnea OMIM:617622
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials ORPHA:99950
Breath-Holding Spells
Cyanosis OMIM:607578
Myoclonus, Intractable, Neonatal
Apnea OMIM:617235
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory insufficiency, Death in infancy, Respiratory failure, Neonatal death, Death in childh... OMIM:245400
Scedosporiosis
Bronchitis, Apical pulmonary opacity, Pleural empyema, Pleuritis, Abnormal respiratory system phy... ORPHA:449280
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Lymphangioleiomyomatosis
Pulmonary infiltrates, Pneumothorax, Optic atrophy, Emphysema, Restrictive ventilatory defect, Dy... ORPHA:538
Neurogenic Arthrogryposis Multiplex Congenita
Oligohydramnios, Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Congenital Tracheomalacia
Cyanosis, Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hy... ORPHA:95430
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood OMIM:611523
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Respiratory failure, Restrictive ventilatory defect, Facial palsy OMIM:606612
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Dyspnea, Hyperventilation OMIM:229700
Charcot-Marie-Tooth Disease Type 4C
Respiratory insufficiency, Decreased motor nerve conduction velocity, Hypoventilation ORPHA:99949
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Oligohydramnios OMIM:616733
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Neonatal death, Death in childhood, Death in infancy OMIM:619334
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Paroxysmal dyspnea, Stridor, Cyanosis ORPHA:444013
Lymphatic Malformation 12
Polyhydramnios, Lymphedema, Nonimmune hydrops fetalis, Fetal ascites, Death in adolescence, Neona... OMIM:620014
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity ORPHA:3115
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, EEG with burst suppression, Death in infancy OMIM:614498
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Bronchospasm, Cardiorespiratory arrest, Abnormal pattern of respiration, Stridor OMIM:608800
Bickerstaff Brainstem Encephalitis
Respiratory tract infection, EEG abnormality, Decreased motor nerve conduction velocity, Abnormal... ORPHA:79138
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased sensory nerve conduction velocity, Decreased number of peripheral myelinated nerve fibe... OMIM:201300
Infantile Neuroaxonal Dystrophy
Abnormality of peripheral nerve conduction, Aspiration pneumonia, Optic atrophy, Abnormal autonom... ORPHA:35069
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:619851
Chronic Beryllium Disease
Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system... ORPHA:133
Congenital Disorder Of Glycosylation, Type Ix
Death in childhood, Respiratory distress OMIM:615597
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Central sleep apnea, Multifocal epileptiform discharges, EEG with abnormally slow frequencies, Re... ORPHA:70472
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Cyanosis, Telangiectasia, Hemothorax, Pleural empyema, Hypoxemia... ORPHA:2038
Congenital Disorder Of Glycosylation, Type Ij
Respiratory insufficiency, Hypsarrhythmia, Jaundice, Apnea OMIM:608093
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea ORPHA:320385
D-2-Hydroxyglutaric Aciduria 1
Apnea, Hypsarrhythmia, Inspiratory stridor OMIM:600721
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Death in infancy, Jaundice, Respiratory distress, Death in adolescence... OMIM:615512
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Lethal Ataxia With Deafness And Optic Atrophy
Abnormality of somatosensory evoked potentials, Optic atrophy, Decreased motor nerve conduction v... ORPHA:1187
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Isolated Right Ventricular Hypoplasia
Dyspnea, Pedal edema, Hypoxemia, Cyanosis ORPHA:439
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Optic disc pallor, Death in childhood, Tachypnea OMIM:615838
Nipah Virus Disease
Cough, Respiratory distress ORPHA:99825
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Edema of the dorsum of hands, Interictal EEG abnormality, Edema of the dorsum of feet, Respirator... ORPHA:544503
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity OMIM:270685
Developmental And Epileptic Encephalopathy 99
Multifocal epileptiform discharges, Central apnea OMIM:619606
Anaplastic Thyroid Carcinoma
Respiratory distress, Upper airway obstruction, Dyspnea, Cough, Stridor ORPHA:142
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Peripheral axonal degeneration, Abnormal lower motor neuron ... OMIM:602433
Hereditary Sensory And Autonomic Neuropathy Type 1
Motor axonal neuropathy, Decreased amplitude of sensory action potentials, Abnormality of the aut... ORPHA:36386
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:613561
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Pulmonary edema, Pericardial effusion, EEG with burst suppression, Respiratory distress... OMIM:261740
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:302800
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Oligohydramnios ORPHA:261304
Ciliary Dyskinesia, Primary, 1
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis, Pneumo... OMIM:244400
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Interictal EEG abnormality, Aspiration pneumonia, Episodic tachypnea ORPHA:79264
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Polyhydramnios, Dyspnea, Respiratory distress ORPHA:2759
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Abnormal lower motor neuron morphology OMIM:613954
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal autonomic nervous system physiology, Abnormal nerve conduction velocity OMIM:243000
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Aspiration, Decreased nerve conduction velocity, Respirat... OMIM:606070
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Ciliary Dyskinesia, Primary, 2
Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Ciliary dyskinesia OMIM:606763
Mitochondrial Complex I Deficiency, Nuclear Type 33
Respiratory insufficiency, Aspiration pneumonia, Bronchiectasis, Oligohydramnios, Apnea OMIM:618253
Severe Congenital Nemaline Myopathy
Facial diplegia, Respiratory failure, Pulmonary hypoplasia, Facial palsy ORPHA:171430
Leigh Syndrome With Leukodystrophy
Apnea ORPHA:255241
Mitochondrial Complex I Deficiency, Nuclear Type 5
Respiratory insufficiency, Apnea OMIM:618226
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Optic atrophy OMIM:612674
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:616688
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Peripheral hypomyelina... OMIM:604168
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Hypoventilation, Asthma, Cardiorespiratory arrest, Central hypoventilation, Obstructive... ORPHA:293987
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
EEG with focal spikes, Interictal epileptiform activity, Hyperventilation, Increased theta freque... ORPHA:98784
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Paradoxical respiration, Respiratory distress OMIM:620011
Primary Lateral Sclerosis, Juvenile
Decreased compound muscle action potential amplitude OMIM:606353
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Decreased nerve conduction velocity, Reduced vital capacity ORPHA:329478
Chitayat Syndrome
Tracheomalacia, Respiratory distress, Polyhydramnios OMIM:617180
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Jaundice, Oligohydramnios, Recurrent pneumonia, Respiratory failure, Ascites, Sp... ORPHA:731
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Peripheral axonal neuropathy, Optic atrophy OMIM:616505
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Abnormal respiratory system physiology, Facial diplegia, Respir... ORPHA:98905
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity ORPHA:319514
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis, Death in infancy, Respiratory distress, Apnea, Hypopnea, Neonatal respiratory distress,... OMIM:618426
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Optic atrophy, Facial palsy OMIM:608804
Joubert Syndrome 7
Neonatal breathing dysregulation, Episodic tachypnea, Tachypnea, Central apnea OMIM:611560
Microlissencephaly-Micromelia Syndrome
Polyhydramnios, Palpebral edema, Respiratory distress, EEG abnormality ORPHA:50810
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Hyperekplexia 3
Apnea, Respiratory arrest OMIM:614618
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Cough ORPHA:86812
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy OMIM:615419
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory insufficiency, Polyhydramnios, Nonimmune hydrops fetalis, Respiratory distress, Ascit... ORPHA:367
Atypical Rett Syndrome
Abnormal pattern of respiration, EEG abnormality, Sudden episodic apnea, Episodic tachypnea ORPHA:3095
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Cough, Generalized abnormality of skin, Atelectasis ORPHA:2314
Sialidosis Type 1
Vascular skin abnormality, Decreased nerve conduction velocity, EEG abnormality ORPHA:812
Hyperekplexia 1
Apnea, Aspiration OMIM:149400
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity ORPHA:1933
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea OMIM:619797
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Congenital Tricuspid Valve Dysplasia
Cyanosis, Pericardial effusion, Hypoxemia, Respiratory failure, Respiratory failure requiring ass... ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Hyperglycinemia, Lactic Acidosis, And Seizures
Respiratory insufficiency, Cerebral edema, Apnea OMIM:614462
Scheie Syndrome
Abnormal nerve conduction velocity, Rhinitis ORPHA:93474
Neuromuscular Oculoauditory Syndrome
Aspiration, Decreased amplitude of sensory action potentials, Respiratory distress, Peripheral hy... OMIM:618733
Rett Syndrome
Intermittent hyperventilation, Apnea, EEG abnormality OMIM:312750
Niemann-Pick Disease, Type C2
Respiratory insufficiency, Respiratory failure, Death in infancy, Jaundice, Neonatal respiratory ... OMIM:607625
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Respiratory distress, EEG abnormality OMIM:608799
Sepsis In Premature Infants
Cyanosis, Petechiae, Nasal flaring, Jaundice, Abnormal respiratory system physiology, Purpura, Ed... ORPHA:90051
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Dehydration ORPHA:79312
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Exertional dyspnea, Dyspnea, ... OMIM:614370
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
EEG abnormality, Optic atrophy, Hypsarrhythmia, Decreased nerve conduction velocity, Optic disc p... ORPHA:485421
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Zygomycosis
Pulmonary infiltrates, Parenchymal consolidation, Pneumothorax, Pleural effusion, Air crescent si... ORPHA:73263
Pontocerebellar Hypoplasia, Type 16
Apnea OMIM:619527
Hypophosphatasia, Infantile
Apnea, Polyhydramnios, Stillbirth, Death in infancy OMIM:241500
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Neonatal death OMIM:601612
Hypoglossia With Situs Inversus
Upper airway obstruction, Respiratory distress OMIM:612776
Vocal Cord And Pharyngeal Distal Myopathy
Aspiration, Decreased nerve conduction velocity, Respiratory insufficiency due to muscle weakness ORPHA:600
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exertional dyspnea, Optic atrophy, Respiratory distress, Respiratory failure, Death in childhood,... OMIM:220110
Pseudo-Torch Syndrome 3
Respiratory insufficiency, Apnea, Death in infancy OMIM:618886
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Abnormality of peripheral nerves, Abnormal peripheral... ORPHA:168563
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Respiratory tract infection, Exertional dyspnea, Motor axonal neuropat... ORPHA:365
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Petechiae, Purpura, Nonimmune hydrops fetalis, Respiratory distress, Apnea, Ascit... OMIM:608013
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Peripapillary atrophy, Repeated pneumothoraces, Pulmonary hypoplasia, ... ORPHA:536467
Myotonia, Potassium-Aggravated
Apneic episodes in infancy, Stridor OMIM:608390
Farber Disease
Respiratory insufficiency, Nodular pattern on pulmonary HRCT, Respiratory distress, Recurrent upp... ORPHA:333
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Tracheomalacia, Neonatal death OMIM:245650
Immunodeficiency 54
Respiratory insufficiency, Recurrent respiratory infections, Respiratory failure OMIM:609981
Illum Syndrome
Apnea OMIM:208155
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity OMIM:238970
Developmental And Epileptic Encephalopathy 101
Apnea OMIM:619814
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Peri... OMIM:256840
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Optic disc pallor, O... OMIM:601152
Tularemia
Pleural effusion, Pneumonia, Cough, Respiratory distress ORPHA:3392
Propionic Acidemia
Apnea, Dehydration, Tachypnea OMIM:606054
Nasolacrimal Duct Cyst
Abnormal breath sound, Intercostal retractions, Paroxysmal dyspnea, Stridor, Periorbital edema, E... ORPHA:141083
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Optic atrophy OMIM:256600
Multiple Carboxylase Deficiency
Respiratory distress, Tachypnea ORPHA:148
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Stt3B-Cdg
Respiratory distress ORPHA:370924
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure, Peripheral axonal neuropathy OMIM:156530
Xeroderma Pigmentosum, Complementation Group B
Cutaneous photosensitivity, Progeroid facial appearance, Decreased nerve conduction velocity, Opt... OMIM:610651
Infantile Krabbe Disease
Optic atrophy, Respiratory distress, Decreased nerve conduction velocity, Respiratory failure, Pr... ORPHA:206436
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Generalized edema OMIM:271225
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Dyspnea, Respiratory distress, Optic atrophy ORPHA:2707
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Abnormal autonomic nervous system physiology, Axonal loss, Cough, Decreased distal sensory nerve ... OMIM:614575
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Apnea, Polyhydramnios, Cutis marmorata, Death in infancy OMIM:602613
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Irregular respiration, Inspiratory stridor, Respiratory distress, Death in infancy OMIM:604377
Snakebite Envenomation
Respiratory paralysis, Ecchymosis, Epistaxis, Erythema, Respiratory failure, Angioedema ORPHA:449285
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormality of peripheral nerves, Axonal degeneration, Abnormal sensory nerve conduction velocity ORPHA:88628
Mitochondrial Complex I Deficiency, Nuclear Type 2
Respiratory insufficiency, Apnea, Hypercapnia, Apneic episodes in infancy OMIM:618222
Auriculocondylar Syndrome 1
Apnea, Snoring OMIM:602483
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea, Polyhydramnios OMIM:612949
Myotonic Dystrophy 1
Polyhydramnios, Respiratory distress OMIM:160900
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Pulmonary hypoplasia, Emphysema, Recurrent pneumonia, Progeroid facial appearan... OMIM:613177
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, EEG with focal sharp waves, EEG with polyspike wave complexes ORPHA:284417
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Dravet Syndrome
Cyanotic episode, EEG with generalized epileptiform discharges, Multifocal epileptiform discharge... ORPHA:33069
Cholera
Palmoplantar cutis laxa, Aspiration pneumonia, Miscarriage, Dehydration, Hyperventilation, Tachypnea ORPHA:173
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea, EEG with generalized slow activity OMIM:300055
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity ORPHA:397744
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Cyanosis, Intercostal retractions, Crackles, Recurrent pneumo... ORPHA:1329
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Pedal edema, Cyanosis, Exertional dyspnea, Breathing dysregulati... ORPHA:99103
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Pulmonary fibrosis, Respiratory failure, Recurrent respiratory infecti... OMIM:618278
Atrial Septal Defect, Ostium Primum Type
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Abnormal respiratory system physio... ORPHA:99106
Hsd10 Disease, Infantile Type
Cyanosis, Optic atrophy ORPHA:391428
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Reduced subcutaneous adipose tissue ORPHA:363400
Myotonia Fluctuans
Apnea, Stridor