Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
necdin, MAGE family member
Synonyms:
Peg6

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 Ndn mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Prader-Willi Syndrome Due To Imprinting Mutation
Neonatal hypotonia ORPHA:177910
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Hypotonia ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Hypotonia ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Hypotonia ORPHA:177901

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Hypotonia ORPHA:2680
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Aggressive behav... OMIM:614963
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Hypoventilation, Breathing dysregulation OMIM:618232
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Hypotonia ORPHA:91130
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Aganglionic megacolon, Hypercapnia, Central hypoventilation, Hypoxemia, A... OMIM:209880
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Dystonia 30
Impulsivity, Hypothalamic hamartoma, Compulsive behaviors, Aggressive behavior OMIM:619291
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Succinic Acidemia
Respiratory distress OMIM:600335
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Nocturnal hypoventilation OMIM:616470
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Generalized hypotonia OMIM:619099
Haddad Syndrome
Death in infancy, Aganglionic megacolon, Central hypoventilation, Breathing dysregulation, Abnorm... ORPHA:99803
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Axial hypotonia, Spastic paraplegia, Hypotonia, Spastic tetraplegia, Spasti... OMIM:617977
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Central hypoventilation, Optic atrophy, Apnea OMIM:618233
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Generalized hypotonia, Severe muscular hypotonia, Respiratory insufficiency ORPHA:238329
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Perry Syndrome
Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency OMIM:168605
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial palsy, Dyspnea, ... OMIM:211530
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea, Facial palsy OMIM:617143
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Coasy Protein-Associated Neurodegeneration
Cognitive impairment, Abnormal thalamus morphology, Compulsive behaviors ORPHA:397725
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Thalamic calcification, Cognitive impairment, Memory impairment, Motor tics OMIM:615483
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... OMIM:619751
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Postpoliomyelitis Syndrome
Hypoventilation, Respiratory insufficiency ORPHA:2942
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Progressive language deterioration, Mental deter... ORPHA:168782
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Death in infancy, Apnea, Central hypoventilation OMIM:620167
Perry Syndrome
Central hypoventilation ORPHA:178509
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Hypotonia, Respiratory insufficiency OMIM:610773
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Breath-Holding Spells
Cyanosis OMIM:607578
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Cyanosis, Opisthotonus, Exertional dyspnea OMIM:250800
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Monosodium Glutamate Sensitivity
Dyspnea, Flushing OMIM:231630
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis, Hypertonia, Dystonia, Spasticity ORPHA:71277
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Gaucher Disease Type 2
Respiratory distress, Cough, Dystonia, Spasticity, Abnormal pattern of respiration ORPHA:77260
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
Congenital Myopathy 3 With Rigid Spine
Restrictive ventilatory defect, Reduced vital capacity, Facial palsy, Nocturnal hypoventilation OMIM:602771
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Facial palsy, Respiratory i... ORPHA:98915
N-Acetylaspartate Deficiency
Short attention span, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Hypotonia, Respiratory insufficiency, Restrictive ventilatory defect, Respi... OMIM:614399
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Facial palsy, Frontalis m... OMIM:300580
Pick Disease Of Brain
Frontotemporal dementia, Polyphagia, Disinhibition, Inappropriate laughter, Abnormal repetitive m... OMIM:172700
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Red... OMIM:610913
Ganglioneuroma
Central hypoventilation ORPHA:251992
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoventilation, Death in infancy OMIM:620275
Hereditary Methemoglobinemia
Cyanosis, Spastic tetraplegia, Hypertonia, Limb dystonia, Spasticity, Exertional dyspnea ORPHA:621
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608636
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Classic Multiminicore Myopathy
Intermittent episodes of respiratory insufficiency due to muscle weakness, Restrictive ventilator... ORPHA:324604
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... ORPHA:137914
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... ORPHA:275864
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Mental deterioration, Memory impairment, Thalamic calcification, Dysphagia OMIM:618317
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Ullrich Congenital Muscular Dystrophy 1
Nocturnal hypoventilation, Respiratory insufficiency due to muscle weakness, Facial palsy, Respir... OMIM:254090
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Reduced forced vital capacity, Restrictive ventilatory defect, Nocturnal hypoventilation OMIM:607155
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Facial palsy, Restrictive ventilatory defect, Respir... ORPHA:98913
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria ORPHA:100057
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion ORPHA:50251
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Axial hypotonia, Apnea ORPHA:1949
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Hypotonia, Generalized hypotonia OMIM:300934
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hypotonia, Generalized hypotonia OMIM:614741
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Rabin-Pappas Syndrome
Tracheomalacia, Hypoventilation, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620155
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Memory impairment, T2 hypointense thalamus, Dementia, Disinhibition OMIM:618193
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Dystonia, Hypertonia, Infantile muscular hypotonia ORPHA:26792
Mitchell Syndrome
Respiratory insufficiency due to muscle weakness, Abnormal autonomic nervous system physiology OMIM:618960
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... OMIM:600795
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Mogs-Cdg
Respiratory distress, Absent brainstem auditory responses, Hypoventilation, Apnea, Optic atrophy ORPHA:79330
Typical Nemaline Myopathy
Nocturnal hypoventilation, Facial diplegia, Facial palsy, Respiratory insufficiency ORPHA:171436
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... ORPHA:2257
Cap Myopathy
Central hypoventilation, Facial palsy ORPHA:171881
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Self-injurious behavior, Attention deficit hyperactivity disorder, Im... OMIM:618929
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Hypo... ORPHA:254875
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation, Optic atrophy OMIM:606056
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Central Precocious Puberty In Male
Pituitary microadenoma, Hypothalamic hamartoma, Attention deficit hyperactivity disorder, Aggress... ORPHA:649929
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Frontotemporal dementia, Dysphagia OMIM:612069
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Generalized hypotonia, ... ORPHA:254864
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypoventilation, Recurrent pneumonia, Optic atrophy OMIM:618493
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Axial hypotonia, Hypotonia, Generalized hypotonia OMIM:612075
Stevenson-Carey Syndrome
Central hypoventilation OMIM:611961
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Dystonia, Crackles, Asthma, Tachypnea, Wheez... OMIM:610978
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Facial palsy, Respiratory insufficiency, Pulmonary arterial hypertension, Respir... ORPHA:258
Bethlem Myopathy
Hypoventilation, Reduced maximal expiratory pressure ORPHA:610
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Severe muscular hypoton... ORPHA:596
Slc35A1-Cdg
Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage ORPHA:238459
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Autosomal Recessive Spastic Paraplegia Type 11
Short attention span, Mental deterioration, Dementia, Dysphagia, Hypothalamic atrophy, Memory imp... ORPHA:2822
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Optic atrophy OMIM:615042
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... ORPHA:36238
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Infantile muscular hypotonia ORPHA:444013
Chiari Malformation Type Ii
Cyanosis, Hypotonia, Opisthotonus, Generalized hypotonia, Inspiratory stridor OMIM:207950
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Rigidity, Dystonia ORPHA:240085
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Hypotonia, Craniofacial dystonia OMIM:620011
Craniopharyngioma
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Pituitary hypothyroidism, Abnormal ... ORPHA:54595
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator... ORPHA:79127
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Death in infancy, Abnormal autonomic nervous system physiology, Abnormal pattern of respiration ORPHA:168593
Malaria
Respiratory distress ORPHA:673
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Hypoventilation, Optic atrophy, Respiratory insufficie... ORPHA:99949
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology, Poor wound healing OMIM:615548
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Mental deterioration, Thalamic calcification OMIM:618824
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism OMIM:619150
Neurodevelopmental Disorder With Language Delay And Seizures
Obsessive-compulsive trait, Hypothalamic hamartoma, Attention deficit hyperactivity disorder OMIM:619908
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Abnormal autonomic nervous system physiology, Hyperventilation OMIM:617903
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Optic atrophy, Death in childhood OMIM:615597
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Hypotonia OMIM:613561
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea, Hypotonia OMIM:614669
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest, Abnormal au... ORPHA:293987
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Self-mutilation ORPHA:314621
Myopathy And Diabetes Mellitus
Respiratory distress, Neonatal hypotonia ORPHA:2596
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Hypotonia, Generalized hypotonia OMIM:616733
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Optic atrophy, Apnea OMIM:261680
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume, Dysphagia OMIM:613668
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
Prader-Willi Syndrome
Hypoventilation, Cutaneous photosensitivity OMIM:176270
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Buerger Disease
Acrocyanosis ORPHA:36258
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Neonatal hypotonia, Cough ORPHA:86812
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Cyanosis, Apnea, Hypotonia, Hypopnea, Hypert... OMIM:618426
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... ORPHA:2038
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Rigidity, Progressive extrapyramidal muscular rigidity, Focal dystonia ORPHA:240103
Persistent Idiopathic Facial Pain
Abnormal autonomic nervous system physiology ORPHA:398147
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp... OMIM:614299
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Riboflavin Transporter Deficiency
Optic disc pallor, Facial palsy, Respiratory insufficiency, Abnormal autonomic nervous system phy... ORPHA:97229
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Spastic tetraparesis, Hypertonia, Dystonia ORPHA:79097
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles ORPHA:60041
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Dementia, Cognitive impairment, Dysphagia, Motor deterioration ORPHA:1947
Multiple System Atrophy
Stridor, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction, Autonomic e... ORPHA:102
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Axial hypotonia, Hypotonia, Respiratory failure, Appendicular hypotonia OMIM:620166
Tricuspid Atresia
Cyanosis ORPHA:1209
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Hypotonia, Respiratory insufficiency OMIM:617239
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, Apnea, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:614498
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Dementia, Progressive language deterioration, Cognitive im... ORPHA:79264
Stt3B-Cdg
Respiratory distress, Generalized hypotonia ORPHA:370924
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia OMIM:606763
Tetanus
Respiratory distress, Tachypnea, Abnormal autonomic nervous system physiology, Autonomic bladder ... ORPHA:3299
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough ORPHA:142
Oromandibular Dystonia
Respiratory distress, Torticollis, Generalized dystonia, Blepharospasm, Limb dystonia, Lingual dy... ORPHA:93958
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Multiple System Atrophy, Parkinsonian Type
Stridor, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction, Autonomic e... ORPHA:98933
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hypotonia, Dystonia ORPHA:289916
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Respiratory insufficiency OMIM:245650
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... OMIM:615343
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tracheomalacia, Hypoventilation, Jaundice OMIM:203700
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Infantile axial hypotonia, Hypertonia, Cyanotic episode, Spastic tetraparesis ORPHA:284417
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Axial hypotonia, Hypotonia, Opisthotonus, Generalized hypotonia, Limb hypertonia OMIM:619580
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Hypotonia, Respiratory distress, Generalized hypotonia OMIM:300219
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Generalized hypotonia, Respiratory insufficiency, Infantile muscular hypotonia ORPHA:1145
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Restlessness, Confusion ORPHA:68
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Hyperventilation OMIM:229700
Ethylmalonic Encephalopathy
Acrocyanosis, Generalized hypotonia, Petechiae ORPHA:51188
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Respiratory insufficiency, Exertional dyspnea OMIM:614370
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Hypotonia ORPHA:261304
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:98914
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Agitation, Disinhibition... OMIM:607485
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... OMIM:618718
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Hypotonia, Generalized hypotonia, Telangiectasia OMIM:608799
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Trigeminal Neuralgia
Cranial nerve compression, Paresthesia, Allodynia, Somatic sensory dysfunction ORPHA:221091
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Hypotonia, Generalized hypotonia, Dystonia OMIM:614407
Chitayat Syndrome
Respiratory distress, Generalized hypotonia, Tracheomalacia OMIM:617180
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hypotonia, Dystonia ORPHA:79312
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology, Attention deficit hyperactivity disorder ORPHA:467166
Encephalopathy, Ethylmalonic
Acrocyanosis, Hypotonia, Petechiae OMIM:602473
Hsd10 Disease, Infantile Type
Cyanosis, Spastic tetraparesis, Hypotonia, Spastic diplegia, Dystonia ORPHA:391428
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... ORPHA:90051
Joubert Syndrome 8
Hyperventilation, Optic disc pallor, Prolonged neonatal jaundice OMIM:612291
Triosephosphate Isomerase Deficiency
Respiratory distress, Dystonia, Respiratory insufficiency due to muscle weakness, Jaundice, Hypot... OMIM:615512
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Multiple System Atrophy, Cerebellar Type
Stridor, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction, Autonomic e... ORPHA:227510
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor, Hypotonia, Neonatal hypotonia OMIM:615595
Myotonic Dystrophy 1
Respiratory distress, Hypotonia, Generalized hypotonia OMIM:160900
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Primary Dystonia, Dyt4 Type
Respiratory distress, Torticollis, Generalized dystonia, Blepharospasm, Laryngeal dystonia ORPHA:98805
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure ORPHA:731
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Neonatal hypotonia, Prolonged neonatal jaundice ORPHA:226313
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Hypotonia ORPHA:79242
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Severe muscular hypotonia, Respiratory insufficiency, Generalized hypotonia... ORPHA:367
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Spasticity OMIM:618201
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hypotonia, Limb dystonia, Inspiratory stridor, Irregular respiration OMIM:604377
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... OMIM:301029
Alexander Disease Type I
Abnormal thalamic MRI signal intensity, Dysphagia ORPHA:363717
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Dravet Syndrome
Rigidity, Cyanotic episode, Infantile muscular hypotonia, Cogwheel rigidity ORPHA:33069
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Hypotonia, Opisthotonus, Hypertonia, Pulmonary arterial hypertension OMIM:619272
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea ORPHA:860
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Abnormal muscle tone ORPHA:89844
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Neonatal hypotonia, Cyanosis ORPHA:3309
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hypotonia, Generalized hypotonia OMIM:212140
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ... OMIM:618917
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology ORPHA:369873
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Dilated third ventricle, Abnormal repetitive mannerisms... OMIM:619725
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Nocturnal hypoventilation ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Nocturnal hypoventilation ORPHA:352665
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Hypotonia, Apne... ORPHA:348
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage, Opisthotonus ORPHA:335
Isolated Atp Synthase Deficiency
Respiratory distress, Spastic paraplegia, Hypotonia, Dystonia ORPHA:254913
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology, Cough OMIM:614575
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Fatal Familial Insomnia
Apnea, Abnormal autonomic nervous system physiology OMIM:600072
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis, Dystonia ORPHA:330021
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Spasticity, Hypertonia, Generalized hypotonia ORPHA:544503
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion, Progressive neurologic deterioration ORPHA:254881
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... ORPHA:99106
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis ORPHA:896
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Hypoventilation, Apnea, Breathing dysregulation, Aspiration pneumonia ORPHA:438213
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Episodic Ataxia Type 1
Respiratory distress, Hypertonia ORPHA:37612
Neuroferritinopathy
T2 hypointense thalamus, Subcortical dementia, Abnormal thalamic MRI signal intensity, Frontal lo... ORPHA:157846
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... OMIM:616482
Double Outlet Right Ventricle
Cyanosis, Tachypnea ORPHA:3426
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Hypotonia, Jaundice, Respiratory distress OMIM:231680
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion OMIM:613724
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Respirator... OMIM:220110
Joubert Syndrome 17
Hyperventilation OMIM:614615
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Infantile muscular hypotonia ORPHA:927
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Generalized hypotonia OMIM:617895
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Generalized hypotonia OMIM:271225
Infantile Neuroaxonal Dystrophy
Optic atrophy, Apneic episodes in infancy, Abnormal autonomic nervous system physiology, Aspirati... ORPHA:35069
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion OMIM:619057
Panhypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95513
Ethylene Glycol Poisoning
Cyanosis, Facial palsy, Episodic respiratory distress, Tachypnea, Abnormal pattern of respiration ORPHA:31826
Parkinsonism-Dystonia 2, Infantile-Onset
Abnormal autonomic nervous system physiology OMIM:618049
Wild Type Attr Amyloidosis
Pleural effusion, Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Or... ORPHA:330001
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hypotonia, Generalized hypotonia OMIM:251000
Aicardi-Goutieres Syndrome 1
Axial hypotonia, Dystonia, Erythema, Prolonged neonatal jaundice, Spasticity, Acrocyanosis, Petec... OMIM:225750
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Optic atrophy ORPHA:2707
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Hypertonia, Cyanosis, Opisthotonus ORPHA:3304
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Progressive language deterioration, Attention deficit hyperac... OMIM:610042
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Hypertonia, Hypotonia ORPHA:50810
Cholera
Miscarriage, Tachypnea, Aspiration pneumonia, Palmoplantar cutis laxa, Hyperventilation ORPHA:173
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi... ORPHA:308552
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea, Infantile muscular hypo... ORPHA:26793
New-Onset Refractory Status Epilepticus
Confusion, Abnormal thalamic MRI signal intensity, Cognitive impairment ORPHA:363558
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology ORPHA:85447
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Cach Syndrome
Cognitive impairment, T2 hypointense thalamus, Progressive neurologic deterioration, Dysphagia ORPHA:135
Moebius Syndrome
Respiratory distress, Facial diplegia OMIM:157900
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Axial hypotonia, Spastic tetraplegia, Appendicular hypotonia ORPHA:268943
Esophageal Atresia
Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Hyp... ORPHA:1199
Fucosidosis
Hypotonia, Spastic tetraplegia, Spasticity, Acrocyanosis, Vascular skin abnormality ORPHA:349
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Infantile Krabbe Disease
Respiratory distress, Lower limb spasticity, Spastic diplegia, Opisthotonus, Respiratory failure,... ORPHA:206436
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia, Hypotonia, Opisthotonus, Dystonia, Neonatal hypotonia,... OMIM:616271
Oculopharyngodistal Myopathy 1
Respiratory distress, Facial palsy, Hypercapnia, Reduced forced vital capacity, Respiratory insuf... OMIM:164310
Biotinidase Deficiency
Respiratory distress, Apnea, Optic neuropathy, Optic atrophy, Hyperventilation ORPHA:79241
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor ORPHA:100050
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... ORPHA:435638
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal tempe... ORPHA:449291
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Attention deficit hyperactivity disorder, Abnormal thalamus morphology, Compulsive behaviors ORPHA:404440
Craniofaciofrontodigital Syndrome
Respiratory distress, Prominent superficial veins, Dyspnea, Hypotonia, Palmoplantar cutis laxa, P... ORPHA:363705
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Abnormal cranial nerve morphology ORPHA:990
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... ORPHA:980
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Aspiration, Respiratory distress, Decreased amplitude of sen... OMIM:618733
Diaphanospondylodysostosis
Respiratory distress, Hypotonia, Respiratory insufficiency, Generalized hypotonia, Tracheomalacia OMIM:608022
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Death in infancy, Cyanosis, Apnea, Optic neuropathy, Respiratory insufficiency... OMIM:252010
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Cough, Acrocyanosis, Pu... ORPHA:183
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Neonatal death, Petechiae, Purpura OMIM:608013
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:620242
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Optic atrophy OMIM:619383
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia OMIM:202650
Fabry Disease
Abnormal autonomic nervous system physiology, Angiokeratoma, Airway obstruction, Angiokeratoma co... OMIM:301500
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:243180
Pitt-Hopkins-Like Syndrome 2
Hyperventilation OMIM:614325
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Facial hypotonia, Severe muscular hypotonia, Dystonia ORPHA:438216
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Orthostatic hypotension, Acrocyanosis OMIM:223900
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperventilation OMIM:253270
Adenohypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95512
Al Amyloidosis
Nonproductive cough, Dyspnea, Abnormal autonomic nervous system physiology, Postural hypotension ... ORPHA:85443
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Hypotonia, Generalized hypotonia OMIM:251110
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension, Infantile muscular hypotonia ORPHA:2519
Meckel Syndrome 14
Pneumothorax, Cyanosis, Cardiorespiratory arrest OMIM:619879
Adult-Onset Cervical Dystonia, Dyt23 Type
Hyperventilation ORPHA:420492
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Optic atrophy ORPHA:329178
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Generalized hypotonia ORPHA:488627
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Hyperventilation ORPHA:98784
Myasthenia Gravis
Dyspnea, Acrocyanosis ORPHA:589
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Cyanosis, Apnea OMIM:261740
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Hypotonia, Generalized hypotonia, Tracheomal... OMIM:217980
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Axial hypotonia, Limb hypertonia OMIM:620306
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... OMIM:187300
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology, Allodynia, Hyperesthesia ORPHA:137596
Rett Syndrome
Apnea, Intermittent hyperventilation OMIM:312750
Pitt-Hopkins Syndrome
Acrocyanosis, Aganglionic megacolon, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Hyperventilation OMIM:618775
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Hypothalamic hamartoma OMIM:241800
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Recurrent pneumonia, Hypotonia, Generalized hypotonia OMIM:607143
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth OMIM:151210
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Agitation OMIM:619046
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Childhood Absence Epilepsy
Hyperventilation ORPHA:64280
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Poems Syndrome
Papilledema, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pu... ORPHA:2905
Double Outlet Left Ventricle
Cyanosis, Tachypnea ORPHA:3427
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:613870
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity, Cognitive impairment, Oral-pharyngeal dysphagia ORPHA:254930
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect, Hypotonia, Generalized hypotonia OMIM:183900
Posttransplant Acute Limbic Encephalitis
Abnormal autonomic nervous system physiology ORPHA:163921
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Abnormal autonomic nervous system physiology, Aspiration, Flushing ORPHA:2131
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent pneumonia, Optic atrophy, Death in childhood OMIM:617303
Rett Syndrome
Abnormal autonomic nervous system physiology, Abnormal pattern of respiration ORPHA:778
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Memory impairment, Abnormal thalamic MRI signal intensity, Cognitive impairment ORPHA:70595
Variant Abeta2M Amyloidosis
Abnormal autonomic nervous system physiology ORPHA:314652
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami OMIM:617542
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... ORPHA:209905
Tarp Syndrome
Cyanosis, Optic atrophy, Apnea ORPHA:2886
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Episodic respiratory distress, Optic atrophy, Hyperventilation ORPHA:255210
Histiocytoid Cardiomyopathy
Tachypnea, Cyanosis, Optic atrophy, Cough ORPHA:137675
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal thalamus morphology, Abnormal repetitive mannerisms, Short attention span ORPHA:300570
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Autonomic bladder dysfunction, Autonomic erectile dysfunction, Orthostatic hypotension due to aut... OMIM:169500
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Hypotonia, Generalized hypotonia OMIM:251100
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea ORPHA:2299
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Hypotonia... ORPHA:3342
Oculoskeletodental Syndrome
Abnormal thalamus morphology ORPHA:557003
Benign Schwannoma
Facial palsy, Abnormality of the twelfth cranial nerve, Vestibular schwannoma, Abnormality of per... ORPHA:252164
Inherited Creutzfeldt-Jakob Disease
Vestibular nystagmus, Abnormal autonomic nervous system physiology ORPHA:282166
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Porphyria Variegata
Cutaneous photosensitivity, Respiratory paralysis, Abnormal autonomic nervous system physiology ORPHA:79473
Ramos-Arroyo Syndrome
Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:1051
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax OMIM:617300
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Hypotonia OMIM:612863
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... OMIM:233450
Pure Autonomic Failure
Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:441
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood OMIM:613848
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Achondroplasia
Respiratory distress, Death in infancy, Upper airway obstruction OMIM:100800
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion, Abnormal cranial nerve morphology ORPHA:1546
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Ecchymosis, Purpura ORPHA:319213
Developmental And Epileptic Encephalopathy 2
Hyperventilation OMIM:300672
Stuve-Wiedemann Syndrome 1
Death in infancy, Apnea, Respiratory insufficiency, Abnormal autonomic nervous system physiology,... OMIM:601559
Farber Disease
Respiratory distress, Spasticity, Respiratory insufficiency, Infantile muscular hypotonia ORPHA:333
Japanese Encephalitis
Decreased motor nerve conduction velocity, Respiratory distress, Facial palsy, Respiratory paraly... ORPHA:79139
Encephalitis Lethargica
Hyperventilation ORPHA:83600
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Acute Disseminated Encephalomyelitis
Mental deterioration, Confusion, Abnormal thalamic MRI signal intensity, Aggressive behavior ORPHA:83597
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Jaundice OMIM:617156
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Neonatal hypotonia, Torticollis, Repeated pneumothoraces, Hypotonia, Respir... ORPHA:536467
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Optic atrophy ORPHA:1555
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Ecchymosis ORPHA:36234
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... OMIM:256800
Auriculocondylar Syndrome
Respiratory distress, Generalized hypotonia ORPHA:137888
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation ORPHA:90068
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension, Aganglionic megacolon ORPHA:210122
Erythermalgia, Primary
Abnormal autonomic nervous system physiology OMIM:133020
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Structural Heart Defects And Renal Anomalies Syndrome
Neonatal hypotonia, Cyanosis OMIM:617478
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormal thalamus morphology, Cognitive impairment ORPHA:2959
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology ORPHA:88619
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic disc pallor, Intermittent hyperventilation, Optic nerve hypoplasia OMIM:300749
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:616683
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:466934
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Petechiae, Purpura ORPHA:2330
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress OMIM:612852
Beare-Stevenson Cutis Gyrata Syndrome
Palmoplantar cutis laxa, Optic atrophy, Respiratory distress OMIM:123790
Amyotrophic Lateral Sclerosis 21
Decreased nerve conduction velocity, Aspiration, Respiratory insufficiency due to muscle weakness OMIM:606070
Neurodegeneration With Brain Iron Accumulation 5
Abnormal autonomic nervous system physiology OMIM:300894
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Alexander Disease Type Ii
Abnormal autonomic nervous system physiology ORPHA:363722
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Facial hypotonia, Respiratory insufficiency due to muscle weakne... ORPHA:365
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cutis marmorata, Pulmonary embolism, Dyspnea, Angioedema, Asthma, Urticaria... ORPHA:3260
Tremor-Ataxia-Central Hypomyelination Syndrome
Optic atrophy, Autonomic bladder dysfunction ORPHA:447896
Wolfram Syndrome
Central apnea, Optic atrophy, Abnormal autonomic nervous system physiology, Respiratory insuffici... ORPHA:3463
Cntnap2-Related Developmental And Epileptic Encephalopathy
Intermittent hyperventilation ORPHA:163681
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms OMIM:616393
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Jaundice, Hypotonia, Prolonged neonatal jaundice, Dystonia OMIM:256810
Q Fever
Respiratory distress, Pneumonia, Cough, Pleural effusion, Purpura ORPHA:781
Caribbean Parkinsonism
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction ORPHA:97355
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect