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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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, Normal interictal EEG, Cyanosis OMIM:607745
Seizures, Benign Familial Infantile, 1
Apnea, Normal interictal EEG, Cyanosis OMIM:601764
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Abnormal seventh cranial physiology, Abnormal... ORPHA:90117
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Respiratory insufficiency, Abnormal cranial nerve morphology, Decreas... OMIM:605253
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy OMIM:610992
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Hereditary Neuropathy With Liability To Pressure Palsies
Respiratory insufficiency, Decreased motor nerve conduction velocity, Cranial nerve paralysis ORPHA:640
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
EEG abnormality, Apnea, Central hypoventilation OMIM:300673
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Death in infancy, Respiratory distress OMIM:616341
Laryngotracheal Angioma
Apnea, Cyanosis, Intercostal retractions, Respiratory distress ORPHA:137935
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Neonatal death OMIM:618232
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Increased theta frequency activity in EEG, Apnea, Focal EEG discharges with ... ORPHA:1949
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Apnea, Neonatal death OMIM:615228
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Central hypoventilation OMIM:619483
Charcot-Marie-Tooth Disease, Type 4J
Peripheral hypomyelination, Decreased nerve conduction velocity, Decreased motor nerve conduction... OMIM:611228
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal neuropathy, Facial palsy, Decreased number of peripheral myelinated nerve fiber... OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased amplitude of sensory action potentials, Decreased number ... OMIM:608673
Perching Syndrome
Cyanosis, Respiratory distress OMIM:617055
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased distal sensory nerve action potential, Decreased nerve conduction velocity, Hypertrophi... OMIM:601098
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Onion bul... OMIM:608323
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Palpebral edema, Respiratory distress, Tongue edema, Angioedema, Pharyngeal edema, Facial edema, ... ORPHA:100057
Muscular Hypertonia, Lethal
Death in infancy, Respiratory distress OMIM:254120
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Death in infancy OMIM:613869
Asbestos Intoxication
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele... ORPHA:2302
Chronic Inflammatory Demyelinating Polyneuropathy
Decreased nerve conduction velocity, Abnormal nerve conduction velocity, Motor conduction block, ... ORPHA:2932
Acute Interstitial Pneumonia
Ground-glass opacification, Cyanosis, Atelectasis, Peribronchovascular interstitial thickening, P... ORPHA:79126
Nemaline Myopathy 8
Respiratory failure, Facial palsy, Death in infancy OMIM:615348
Benign Familial Neonatal-Infantile Seizures
EEG with focal spikes, Apnea, Continuous spike and waves during slow sleep ORPHA:140927
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Mye... OMIM:601382
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Hypoxemia, Tachypnea, Cyanosis, Hyperventilation ORPHA:91359
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Dyspnea, Edema, Tachypnea OMIM:267450
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude OMIM:619112
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Pontocerebellar Hypoplasia Type 4
Polyhydramnios, Central apnea ORPHA:166063
Combined Oxidative Phosphorylation Deficiency 57
Death in infancy, Apnea, Nonimmune hydrops fetalis, Neonatal death, Central hypoventilation OMIM:620167
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Respiratory insufficiency, Decreased amplitude of sensory ac... ORPHA:90103
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased distal sensory nerve action potential, Decreased sensory nerve conduction velocity, Dec... ORPHA:206594
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Peripheral axonal neuropathy, Death in infancy OMIM:611722
Benign Familial Infantile Epilepsy
Interictal epileptiform activity, Apnea, Normal interictal EEG, Cyanosis ORPHA:306
Severe Neonatal-Onset Encephalopathy With Microcephaly
Multifocal epileptiform discharges, Apnea, EEG with focal slow activity ORPHA:209370
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Respiratory insufficiency due to muscle weakness, Decreased number of peripheral... OMIM:618184
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased distal sensory nerve action potential, Decreased motor nerve conduction velocity, Decre... OMIM:607706
Ravine Syndrome
Apnea, Abnormal auditory evoked potentials ORPHA:99852
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections, Death in childhood OMIM:253300
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Glycine Encephalopathy 2
Respiratory failure, EEG with burst suppression OMIM:620398
Immunodeficiency 95
Ground-glass opacification, Recurrent viral upper respiratory tract infections, Recurrent viral p... OMIM:619773
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Neonatal respiratory distress, Recurrent pneumonia, Atelectasis OMIM:615294
Congenital Myopathy 21 With Early Respiratory Failure
Nocturnal hypoventilation, Dyspnea OMIM:620326
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination OMIM:608236
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chylopericardium, Respiratory distress, Pleural effusion, Ascites, Cyanosis ORPHA:2414
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Surfactant Metabolism Dysfunction, Pulmonary, 3
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb ... OMIM:610921
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Abnormal motor nerve conduction velocity OMIM:158580
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Congenital Myopathy 14
Polyhydramnios, Apnea, Death in infancy OMIM:618414
Auriculocondylar Syndrome 4
Apnea OMIM:620457
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Succinic Acidemia
Respiratory distress OMIM:600335
Ullrich Congenital Muscular Dystrophy 2
Nocturnal hypoventilation OMIM:616470
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Respiratory distress ORPHA:141152
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Hypoxemia, Respiratory tract infection, Pneumonia, Respiratory fail... ORPHA:70587
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory failure, Facial palsy, Abnormal motor nerve conduction vel... OMIM:614399
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased sensory nerve conduction velocity, Decreased number of peripheral myelin... OMIM:609260
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Onion bulb formation OMIM:610100
Perry Syndrome
Central hypoventilation ORPHA:178509
Mogs-Cdg
Hypoventilation, Pulmonary edema, Polyhydramnios, Respiratory distress, Absent brainstem auditory... ORPHA:79330
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Nocturnal hypoventilation, Hypoxemia, Apnea, Hypercapnia, Central hypoventilation OMIM:209880
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Haddad Syndrome
Polyhydramnios, Oligohydramnios, Central hypoventilation, Death in infancy ORPHA:99803
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, EEG abnormality, Apnea, Respiratory distress ORPHA:314655
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Clusters of axonal regeneration, Decrease... OMIM:607734
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Hypsarrhythmia, Apneic episodes in infancy ORPHA:500545
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude OMIM:605726
High Altitude Pulmonary Edema
Pulmonary edema, Dyspnea, Hypoxemia, Orthopnea, Tachypnea, Cyanosis ORPHA:330012
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Central hypoventilation OMIM:618233
Classic Glucose Transporter Type 1 Deficiency Syndrome
EEG abnormality, Cyanosis, Central apnea ORPHA:71277
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Bronchopulmonary Dysplasia
Respiratory failure requiring assisted ventilation, Emphysema, Atelectasis, Pulmonary sequestrati... ORPHA:70589
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity OMIM:620111
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cyanosis, Respiratory distress OMIM:263000
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Peripheral axonal neuropathy, Facial diplegia, Respirator... OMIM:611890
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:605588
Myasthenic Syndrome, Congenital, 20, Presynaptic
Hypoventilation, Apnea OMIM:617143
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction ORPHA:65684
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Intraalveolar phospholipid accumulation, Death in infancy, Neonatal d... OMIM:265120
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, From... OMIM:162500
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Hypertrophic nerve changes DECIPHER:29
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity ORPHA:101075
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decr... OMIM:609311
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:613287
Postpoliomyelitis Syndrome
Hypoventilation ORPHA:2942
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Decreased nerve conduction velocity, Sensory axonal neuropathy, Abnormal periphera... ORPHA:457205
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Hypsarrhythmia, Apnea, Cerebral edema, EEG with burst suppression ORPHA:439218
Stuve-Wiedemann Syndrome 2
Stillbirth, Neonatal death, Death in adolescence, Respiratory distress OMIM:619751
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in adolescence OMIM:300717
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Meconium Aspiration Syndrome
Pneumothorax, Transient pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Atele... ORPHA:70588
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Decreased nerve conduction velocity OMIM:608895
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Folinic Acid-Responsive Seizures
Respiratory distress, Hypsarrhythmia, Apnea, Multifocal epileptiform discharges, EEG with general... ORPHA:79097
Null Syndrome
Optic atrophy, Decreased nerve conduction velocity, Abnormality of peripheral nerve conduction, P... ORPHA:280234
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Axonal degeneration, Hypertrophic nerve changes, Bas... OMIM:214400
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Atelectasis, Recurrent respiratory infections, Parenchymal consolidat... OMIM:610978
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Perry Syndrome
Hypoventilation, Central hypoventilation OMIM:168605
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation, Generalized edema, EEG with burst suppression OMIM:606056
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Apnea, EEG with burst suppression OMIM:617290
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, EEG with burst suppression OMIM:618328
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Optic disc pallor ORPHA:98890
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Chronic axonal neuropathy OMIM:606595
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Axonal regeneration, Decre... OMIM:605285
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Decr... OMIM:619279
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bilateral facial palsy, Atelectasis, Bronchiolitis, Pulmonary fibrosis ORPHA:254361
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased compound muscle action potential amplitude, Decreased number of peripheral myelinated n... OMIM:600882
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Roussy-Levy Hereditary Areflexic Dystasia
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Decreased mot... OMIM:180800
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:600361
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:616081
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Facial palsy OMIM:604801
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Death in infancy OMIM:616277
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Surfactant Metabolism Dysfunction, Pulmonary, 2
Ground-glass opacification, Respiratory insufficiency, Intraalveolar phospholipid accumulation, N... OMIM:610913
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial... OMIM:601596
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity OMIM:612577
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity OMIM:616687
Ganglioneuroma
Central hypoventilation ORPHA:251992
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Polyhydramnios, Respiratory distress OMIM:300580
Lethal Recessive Chondrodysplasia
Edema, Polyhydramnios, Respiratory distress ORPHA:1423
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Peripheral dysmyelination ORPHA:101082
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoventilation, Death in infancy OMIM:620275
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:619466
Developmental And Epileptic Encephalopathy 90
Hypsarrhythmia, Apneic episodes in infancy, EEG with burst suppression OMIM:301058
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity OMIM:615575
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased distal sensory nerve action potential, Facial palsy, Decreased motor nerve conduction v... OMIM:607684
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity ORPHA:99014
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Death in childhood OMIM:618225
Congenital Myopathy 11
Polyhydramnios, Apneic episodes in infancy OMIM:619967
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Abnormal motor evoked potentials ORPHA:99939
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Monosodium Glutamate Sensitivity
Flushing, Dyspnea OMIM:231630
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Nocturnal hypoventilation OMIM:603689
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity ORPHA:276435
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Neonatal death OMIM:610127
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Death in infancy OMIM:618235
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Interictal epil... OMIM:218000
Laryngotracheoesophageal Cleft
Aspiration, Cyanosis, Dyspnea ORPHA:2004
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Optic disc pallor, Death in infancy OMIM:618240
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Death in childhood, Dyspnea, Respiratory distress OMIM:211530
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity ORPHA:1368
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity OMIM:183050
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity ORPHA:352675
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Decreased mot... OMIM:118220
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Motor axonal neuropathy, Axonal loss OMIM:620068
Joubert Syndrome 33
Apnea OMIM:617767
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity ORPHA:101078
Laryngomalacia
Respiratory distress OMIM:150280
Auriculocondylar Syndrome 2A
Apnea, Respiratory distress OMIM:614669
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypoventilation, EEG with focal epileptiform discharges, EEG with abnormally slow frequencies OMIM:618493
Pneumocystosis
Respiratory failure requiring assisted ventilation, Acute infectious pneumonia, Respiratory insuf... ORPHA:723
Idiopathic Chronic Eosinophilic Pneumonia
Generalized abnormality of skin, Abnormal pulmonary thoracic imaging finding, Hypersensitivity pn... ORPHA:2902
C1Q Deficiency 2
Facial erythema, Atelectasis, Recurrent lower respiratory tract infections, Vasculitis in the ski... OMIM:620321
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
EEG abnormality, Apnea, Cyanosis OMIM:261680
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Onion bulb formation, Myelin outfoldings OMIM:615284
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... ORPHA:2590
Severe Acute Respiratory Syndrome
Hypoxemia, Dyspnea, Respiratory distress ORPHA:140896
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:615872
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Peripheral axonal neuropathy, Pulmonary hypoplasia, Respiratory failure, Neonatal respiratory dis... OMIM:616867
Spinal Muscular Atrophy, X-Linked 2
Decreased compound muscle action potential amplitude, Respiratory insufficiency, Facial palsy, Re... OMIM:301830
Lymphatic Malformation 7
Pulmonary edema, Respiratory distress, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increa... OMIM:617300
Pleural Mesothelioma
Pleural effusion, Dyspnea, Respiratory distress ORPHA:50251
Intermediate Nemaline Myopathy
Respiratory failure, Facial diplegia, Facial palsy ORPHA:171433
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity ORPHA:1188
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Decreased mot... OMIM:118200
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Orthodeoxia, Reticular pa... ORPHA:2032
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure, Facial palsy ORPHA:370968
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Decreased distal sensory nerve action potential, Peripheral axonal neuropathy OMIM:618400
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity OMIM:618404
Myoclonus, Intractable, Neonatal
Apnea OMIM:617235
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of peripheral my... OMIM:607831
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity OMIM:619862
Classic Multiminicore Myopathy
Nocturnal hypoventilation ORPHA:324604
Autosomal Dominant Spastic Paraplegia Type 17
Abnormal motor nerve conduction velocity ORPHA:100998
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Respiratory distress ORPHA:1832
Glutamine Deficiency, Congenital
Apnea, Erythema, Neonatal death OMIM:610015
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood OMIM:611523
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude OMIM:619519
Spinocerebellar Ataxia Type 1
Optic atrophy, Abnormal flash visual evoked potentials, Abnormal nerve conduction velocity, Respi... ORPHA:98755
Acquired Methemoglobinemia
Hypoxemia, Cyanosis, Dyspnea, Respiratory distress ORPHA:464453
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Muscular Dystrophy, Duchenne Type
Hypoventilation OMIM:310200
Charcot-Marie-Tooth Disease Type 4A
Motor conduction block, Decreased nerve conduction velocity, Chronic axonal neuropathy, Decreased... ORPHA:99948
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, EEG with burst suppression ORPHA:168486
Gaucher Disease Type 2
Abnormal pattern of respiration, Respiratory distress ORPHA:77260
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Respiratory insufficiency, Neonatal respiratory distress, Decreased nerve conduction velocity, Re... OMIM:618356
Synaptic Congenital Myasthenic Syndromes
Hypoventilation, Exertional dyspnea, Respiratory distress ORPHA:98915
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Axonal degeneration, Ventilator dependence with inability to... OMIM:604320
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity OMIM:302802
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Congenital Myopathy 3 With Rigid Spine
Nocturnal hypoventilation OMIM:602771
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, EEG with burst suppression, Death in infancy OMIM:614498
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Typical Nemaline Myopathy
Nocturnal hypoventilation, Polyhydramnios ORPHA:171436
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Peripheral axonal de... OMIM:614436
Stevenson-Carey Syndrome
Central hypoventilation OMIM:611961
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Solar Urticaria
Dyspnea, Angioedema, Urticaria, Periorbital edema, Edema, Dermatographic urticaria ORPHA:97230
Charcot-Marie-Tooth Disease Type 2B1
Axonal degeneration, Sensory axonal neuropathy, Decreased number of small peripheral myelinated n... ORPHA:98856
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea ORPHA:320385
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Nocturnal hypoventilation OMIM:607155
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity ORPHA:2926
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy ORPHA:101077
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Facial diplegia, Decreased motor nerve conduction velocity, Neonatal d... OMIM:618186
Tracheobronchopathia Osteochondroplastica
Atelectasis, Respiratory insufficiency, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent res... ORPHA:3348
Cap Myopathy
Central hypoventilation ORPHA:171881
Developmental And Epileptic Encephalopathy 99
Multifocal epileptiform discharges, Central apnea OMIM:619606
Idiopathic Neonatal Atrial Flutter
Tachypnea, Hydrops fetalis, Respiratory distress ORPHA:45452
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Respiratory failure, Peripheral axonal neuropathy, Degeneration of anterior horn c... ORPHA:2254
Postsynaptic Congenital Myasthenic Syndromes
Respiratory failure, Cyanosis, Facial palsy, Decreased size of nerve terminals ORPHA:98913
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination OMIM:249900
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity ORPHA:101081
Lethal Congenital Contracture Syndrome 5
Respiratory insufficiency, Decreased nerve conduction velocity, EEG with burst suppression, Death... OMIM:615368
Rabin-Pappas Syndrome
Hypoventilation, Retinal telangiectasia OMIM:620155
Recurrent Respiratory Papillomatosis
Atelectasis, Respiratory insufficiency, Abnormal lung morphology, Recurrent pneumonia, Recurrent ... ORPHA:60032
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Axonal degeneration, Respiratory insufficiency, Peripheral axonal neuropathy, Decreased number of... OMIM:615490
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Respiratory failure ORPHA:266
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Wild Type Abeta2M Amyloidosis
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Axonal loss ORPHA:85446
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Dyspnea, Hyperventilation OMIM:229700
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis, Dyspnea, Respiratory distress ORPHA:1302
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea OMIM:618198
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased sensory nerve conduction velocity, Hypertrophic nerve changes, Peripheral demyelination... OMIM:145900
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Primary Pulmonary Hypoplasia
Hypoxemia, Tachypnea, Apnea, Cyanosis ORPHA:2257
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Malaria
Respiratory distress ORPHA:673
Mitochondrial Complex I Deficiency, Nuclear Type 6
Apnea OMIM:618228
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion, Dyspnea ORPHA:48686
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Exertional dyspnea, Dyspnea, Pleural effusion, Pericardial effusion, Hypoxemia, ... ORPHA:199241
Acute Lung Injury
Respiratory distress, Dyspnea, Hypoxemia, Edema, Tachypnea ORPHA:178320
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Interictal EEG abnormality ORPHA:79264
Combined Oxidative Phosphorylation Deficiency 30
Death in infancy, Respiratory distress OMIM:616974
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Basal lamina onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decrea... OMIM:614895
Nemaline Myopathy 2
Polyhydramnios, Apnea OMIM:256030
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity OMIM:614932
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Aspiration, Cerebral edema, Abnormality of visual evoked potentials ORPHA:258
Ullrich Congenital Muscular Dystrophy 1A
Nocturnal hypoventilation OMIM:254090
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, EEG ... OMIM:245200
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormality of visual e... OMIM:601455
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Bethlem Muscular Dystrophy
Hypoventilation ORPHA:610
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea OMIM:619797
Charcot-Marie-Tooth Disease Type 4G
Decreased distal sensory nerve action potential, Peripheral axonal neuropathy, Decreased motor ne... ORPHA:99953
Prader-Willi Syndrome
Hypoventilation, Polyhydramnios, Cutaneous photosensitivity, Edema, Oligohydramnios OMIM:176270
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress OMIM:245590
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased number of peri... OMIM:607250
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased number of peripheral m... OMIM:604563
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Respiratory distress, Pleural effusion, Ascites, Pericardial effusion, Apnea, Pe... OMIM:261740
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure, Optic atrophy OMIM:615330
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Hyperekplexia 4
Hypsarrhythmia, Respiratory failure OMIM:618011
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential, Oculomotor nerve palsy, Abducens palsy, Respirat... OMIM:606071
Congenital Disorder Of Glycosylation, Type Ij
Hypsarrhythmia, Jaundice, Apnea OMIM:608093
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory insufficienc... ORPHA:254875
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Peripheral demyelination ORPHA:71211
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypoventilation, Jaundice, Ascites, Abnormality of visual evoked potentials, Anasarca OMIM:203700
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Peribronchovascular interstitial thickening, Respiratory t... ORPHA:244
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
D-2-Hydroxyglutaric Aciduria 1
Hypsarrhythmia, Apnea OMIM:600721
Atypical Rett Syndrome
Abnormal pattern of respiration, Sudden episodic apnea, EEG abnormality, Episodic tachypnea ORPHA:3095
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis, Dyspnea OMIM:610910
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Recurrent respiratory infections, R... OMIM:608647
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea OMIM:618226
Waardenburg Syndrome Type 3
Atelectasis, Acrocyanosis ORPHA:896
Pontocerebellar Hypoplasia, Type 16
Apnea OMIM:619527
Restrictive Dermopathy 2
Cyanosis, Respiratory distress OMIM:619793
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Bronchogenic Cyst
Bronchogenic cyst, Abnormal pulmonary thoracic imaging finding, Atelectasis, Abnormal pleura morp... ORPHA:2357
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Abnormal autonomic nervous ... ORPHA:139578
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea OMIM:619482
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Acute infectious pneumonia, Pleural empyema, Pleural effusi... ORPHA:36238
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Facial pal... OMIM:612387
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion, Dyspnea, Respiratory distress ORPHA:411703
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
Rett Syndrome
Intermittent hyperventilation, EEG abnormality, Apnea OMIM:312750
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Tachypnea, Respiratory distress ORPHA:264675
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Peripheral axonal neuropathy, Decreased nerve conduction velocity ORPHA:435387
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Purpura, Petechiae, Interstitial pneumonitis, Vasculitis in the skin, Recurrent upper respiratory... OMIM:620296
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93476
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials, Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Slc35A1-Cdg
Hypoxemia, Subcutaneous hemorrhage, Respiratory distress ORPHA:238459
Joubert Syndrome 7
Tachypnea, Central apnea, Episodic tachypnea OMIM:611560
Familial Nasal Acilia
Bronchiectasis, Atelectasis, Recurrent upper respiratory tract infections ORPHA:922
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Hypophosphatasia, Infantile
Stillbirth, Polyhydramnios, Apnea, Death in infancy OMIM:241500
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Hereditary Angioedema Type 1
Edema of the dorsum of hands, Respiratory distress, Dyspnea, Tongue edema, Urticaria, Intestinal ... ORPHA:100050
Leigh Syndrome
Respiratory insufficiency, Respiratory failure, Optic atrophy OMIM:256000
Breath-Holding Spells
Cyanosis OMIM:607578
Proximal Spinal Muscular Atrophy
Hypoventilation ORPHA:70
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory fail... OMIM:245400
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Optic atrophy, Death in infancy OMIM:614299
Developmental And Epileptic Encephalopathy 101
Apnea OMIM:619814
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Abnormal blood gas level, Hypoxemia, Pneumonia, Respiratory failure, Pulmonary i... ORPHA:70578
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Interictal epileptiform activity, EEG with focal spikes, Increased theta frequency activity in EE... ORPHA:98784
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Decreased compound muscle action potential amplitude, Peripheral demyelination OMIM:618279
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Oligohydramnios OMIM:618253
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Peripheral hypomyelination, Abnormality of peripheral nerve conduction ORPHA:48431
Illum Syndrome
Apnea OMIM:208155
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis, Dyspnea, Pedal edema ORPHA:439
Propionic Acidemia
Tachypnea, Apnea, Dehydration OMIM:606054
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity OMIM:159550
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Death in infancy, Neonatal death, Facial paralysis, Respiratory failure OMIM:605711
Idiopathic Pulmonary Hemosiderosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Pul... ORPHA:99931
Coenzyme Q10 Deficiency, Primary, 8
Oligohydramnios, Respiratory distress OMIM:616733
Gaucher Disease, Perinatal Lethal
Purpura, Polyhydramnios, Respiratory distress, Petechiae, Ascites, Apnea, Neonatal death, Nonimmu... OMIM:608013
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Axonal loss OMIM:118300
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Cardiomyopathy, Dilated, 2H
Tachypnea, Neonatal death OMIM:620203
X-Linked Centronuclear Myopathy
Polyhydramnios, Respiratory distress ORPHA:596
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Atelectasis, Death in infancy OMIM:300219
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Decreased compound muscle action potential amplitude OMIM:603511
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Death in childhood, Neonatal death, Death in infancy OMIM:619334
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Edema of the dorsum of hands, Respiratory distress, EEG with focal epileptiform discharges, Inter... ORPHA:544503
Necrotizing Enterocolitis
Edema, Apnea, Ascites, Cyanosis ORPHA:391673
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Cerebral edema OMIM:614462
Congenital Disorder Of Glycosylation, Type Iu
Death in infancy, Respiratory distress OMIM:615042
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Choanal Atresia
Cyanosis, Respiratory distress ORPHA:137914
Congenital Disorder Of Glycosylation, Type Ix
Death in childhood, Respiratory distress OMIM:615597
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in childhood, Respiratory distress, Death in infancy, Apnea, Cyanosis, Hypopnea OMIM:618426
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Polyhydramnios, Apnea OMIM:612949
Hyperekplexia 3
Apnea OMIM:614618
Charcot-Marie-Tooth Disease Type 4C
Hypoventilation, Decreased motor nerve conduction velocity ORPHA:99949
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea, EEG with generalized slow activity OMIM:300055
Neurogenic Arthrogryposis Multiplex Congenita
Oligohydramnios, Respiratory distress ORPHA:1143
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Chronic a... OMIM:162400
Pontocerebellar Hypoplasia Type 2
Apnea ORPHA:2524
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:603472
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Decreased numbe... OMIM:201300
Congenital Heart Block
Hydrops fetalis, Pleural effusion, Pericardial effusion, Peripheral edema, Cyanosis, Oligohydramnios ORPHA:60041
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Respiratory failure, Facial palsy OMIM:606612
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Respiratory failure requiring assisted ventilation, Decreased motor nerve conduction velocity, De... OMIM:619026
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Oligohydramnios, Respiratory distress ORPHA:261304
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Abnormal pattern of respiration, Apnea OMIM:608800
Severe Congenital Nemaline Myopathy
Facial palsy, Respiratory failure, Facial diplegia, Pulmonary hypoplasia ORPHA:171430
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Abnormal cranial nerve morphology, Facial pal... ORPHA:79138
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials ORPHA:99950
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Coach Syndrome 2
Apneic episodes in infancy OMIM:619111
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Pseudo-Torch Syndrome 3
Apnea, Death in infancy OMIM:618886
Lethal Ataxia With Deafness And Optic Atrophy
Respiratory failure requiring assisted ventilation, Optic atrophy, EEG with focal epileptiform di... ORPHA:1187
Smith-Magenis Syndrome
EEG abnormality, Abnormal nerve conduction velocity OMIM:182290
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, Abnormality of visual evoked ... ORPHA:485421
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:619851
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity OMIM:613724
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Bronchiectasis, Bruising susceptibility, Decreased compound muscle action potential amplitude OMIM:620080
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Paradoxical respiration, Respiratory distress OMIM:620011
Auriculocondylar Syndrome 1
Apnea OMIM:602483
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Respiratory failure, Peripheral axonal neuropathy OMIM:616505
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Hypsarrhythmia, Dehydration, Tachypnea, Apnea, Edema, EEG abnormality ORPHA:20
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Death in childhood, Optic disc pallor OMIM:615838
Infantile Neuroaxonal Dystrophy
Optic atrophy, Peripheral axonal neuropathy, Abnormal autonomic nervous system physiology, Aspira... ORPHA:35069
Congenital Myasthenic Syndrome
Polyhydramnios, EEG with polyspike wave complexes, Sudden episodic apnea, Apneic episodes precipi... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Polyhydramnios, EEG with polyspike wave complexes, Sudden episodic apnea, Apneic episodes precipi... ORPHA:98914
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity ORPHA:3115
Triosephosphate Isomerase Deficiency
Jaundice, Respiratory insufficiency, Death in adolescence, Death in infancy, Prolonged neonatal j... OMIM:615512
Peroxisome Biogenesis Disorder 2A (Zellweger)
Jaundice, Palpebral edema, Apnea, Death in childhood OMIM:214110
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Decreased nerve conduction velocity OMIM:612674
48,Xxyy Syndrome
Apnea ORPHA:10
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:1933
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Pulmonary Alveolar Microlithiasis
Ground-glass opacification, Pneumothorax, Pleural thickening, Subpleural interstitial thickening,... ORPHA:60025
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
EEG with abnormally slow frequencies, Respiratory failure, Multifocal epileptiform discharges ORPHA:70472
Combined Oxidative Phosphorylation Deficiency 59
Apnea, Cerebral edema OMIM:620646
Avian Influenza
Ground-glass opacification, Pneumothorax, Miscarriage, Pleural effusion, Hypoxemia, Pneumonia, Re... ORPHA:454836
Myotonia, Potassium-Aggravated
Apneic episodes in infancy OMIM:608390
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress OMIM:613561
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased motor nerv... OMIM:302800
Microlissencephaly-Micromelia Syndrome
Polyhydramnios, EEG abnormality, Palpebral edema, Respiratory distress ORPHA:50810
Amyotrophic Lateral Sclerosis 4, Juvenile
Decreased compound muscle action potential amplitude, Axonal degeneration, Diffuse axonal swellin... OMIM:602433
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity ORPHA:319514
Chitayat Syndrome
Polyhydramnios, Respiratory distress OMIM:617180
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Diffuse reti... ORPHA:79127
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration, Respiratory distress ORPHA:79312
Myotonia Fluctuans
Apnea ORPHA:99734
Joubert Syndrome 3
Central apnea, Episodic tachypnea OMIM:608629
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Abnormal lower motor neuron morphology OMIM:613954
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Facial palsy, Pneumonia, Respiratory failure, Recurrent respiratory infections ORPHA:98905
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Cyanosis OMIM:617239
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Dyspnea, Intermittent hyperventilation, Apneic episodes in infancy, Episodi... ORPHA:348
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Polyhydramnios, Dyspnea, Respiratory distress ORPHA:2759
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Dyspnea ORPHA:747
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity OMIM:270685
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve conduction velocity, Perip... OMIM:604168
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypercapnia, Apnea, Apneic episodes in infancy OMIM:618222
Congenital Disorder Of Glycosylation, Type Ie
EEG abnormality, Telangiectasia, Respiratory distress OMIM:608799
Lymphangioleiomyomatosis
Pneumothorax, Optic atrophy, Atelectasis, Emphysema, Recurrent respiratory infections, Chylothora... ORPHA:538
Nipah Virus Disease
Respiratory distress ORPHA:99825
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Decreased motor nerve conduction velocity, Facial palsy, Sensory axonal neuropathy OMIM:608804
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress ORPHA:86812
Odontochondrodysplasia
Death in infancy, Respiratory distress ORPHA:166272
Combined Oxidative Phosphorylation Defect Type 23
Paroxysmal dyspnea, Cyanosis ORPHA:444013
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Central apnea ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Central apnea ORPHA:529799
Scedosporiosis
Pleuritis, Bronchitis, Pleural empyema, Apical pulmonary opacity, Pulmonary fibrosis, Pneumonia, ... ORPHA:449280
Thyroid Lymphoma
Dyspnea, Respiratory distress ORPHA:97285
Sialidosis Type 1
EEG abnormality, Decreased nerve conduction velocity, Vascular skin abnormality ORPHA:812
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:616688
Amyotrophic Lateral Sclerosis 21
Decreased nerve conduction velocity, Respiratory insufficiency due to muscle weakness, Abnormal l... OMIM:606070
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Decreased motor nerve conduction velocity OMIM:615419
Niemann-Pick Disease, Type C2
Death in childhood, Jaundice, Respiratory insufficiency, Death in infancy, Prolonged neonatal jau... OMIM:607625
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity OMIM:256600
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Facial diplegia ORPHA:329478
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections OMIM:609981
Primary Lateral Sclerosis, Juvenile
Decreased compound muscle action potential amplitude OMIM:606353
Fatal Familial Insomnia
Apnea OMIM:600072
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Generalized abnormality of skin, Polyhydramnios, Respiratory distress, Ascites, Nonimmune hydrops... ORPHA:367
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation ORPHA:293987
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11
Peripheral axonal neuropathy, Motor axonal neuropathy, Decreased compound muscle action potential... OMIM:620528
Hermansky-Pudlak Syndrome 10
EEG abnormality, Apnea OMIM:617050
Joubert Syndrome
Abnormal pattern of respiration, Apnea, Episodic tachypnea ORPHA:475
Wieacker-Wolff Syndrome
Apnea OMIM:314580
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Polyhydramnios, Central apnea OMIM:618291
Farber Disease
Atelectasis, Respiratory insufficiency, Diffuse reticular or finely nodular infiltrations, Recurr... ORPHA:333
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Cyanosis OMIM:619580
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Jaundice, Oligohydramnios, Ascites ORPHA:731
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ... ORPHA:206443
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea ORPHA:79644
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea OMIM:210200
Dravet Syndrome
Cyanotic episode, Interictal epileptiform activity, EEG with focal epileptiform discharges, Multi... ORPHA:33069
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Abnormality of visual evoked potentials, Decreased motor nerve conduction velocity... OMIM:601152
Stt3B-Cdg
Respiratory distress ORPHA:370924
Spinal muscular atrophy, type I, with congenital bone fractures
Generalized edema, Respiratory distress OMIM:271225
Myotonic Dystrophy 1
Polyhydramnios, Respiratory distress OMIM:160900
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity OMIM:238970
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lo... OMIM:620233
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypsarrhythmia, Apnea, EEG with burst suppression, Cyanosis OMIM:620423
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormality of peripheral nerve conduction, Abnormal peripheral ... ORPHA:168563
Pulmonary Arteriovenous Malformation
Pleural empyema, Dyspnea, Hypoxemia, Cyanosis, Telangiectasia ORPHA:2038
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Generalized abnormality of skin, Recurrent respiratory infections, Atelectasis ORPHA:2314
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
EEG with focal sharp waves, Cyanotic episode, EEG with polyspike wave complexes ORPHA:284417
Hsd10 Disease, Infantile Type
Optic atrophy, Cyanosis ORPHA:391428
Plaa-Associated Neurodevelopmental Disorder
Hypsarrhythmia, Edema of the dorsum of feet, Apnea, Edema of the dorsum of hands ORPHA:521426
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity ORPHA:397744
Muscular Dystrophy, Congenital, With Or Without Seizures
Interictal epileptiform activity, Respiratory distress OMIM:620166
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Repeated pneumothoraces, Respiratory insufficiency, Pulmonary hypoplasia, Peripapill... ORPHA:536467
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Palmoplantar cutis laxa, Neonatal death, Central apnea, Respiratory distress OMIM:616482
Sepsis In Premature Infants
Purpura, Jaundice, Petechiae, Dyspnea, Nasal flaring, Edema, Cyanosis ORPHA:90051
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Respiratory failure, Absent brainstem auditory responses ORPHA:3240
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Scheie Syndrome