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Gene: Ndn MGI:97290

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Human diseases associated with Ndn (4 diseases)
Human diseases predicted to be associated with Ndn (658 diseases)

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

Disease	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	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	Abnormal thalamic MRI signal intensity, Dysphagia	ORPHA:485421
Mgat2-Cdg	Respiratory distress, Hypotonia, Generalized hypotonia	ORPHA:79329
Intellectual Developmental Disorder, Autosomal Dominant 54	Apnea, Hyperventilation	OMIM:617799
Toxic Epidermal Necrolysis	Respiratory distress, Restrictive ventilatory defect, Erythema, Cough	ORPHA:537
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia	ORPHA:93260
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity, Aspiration, Respiratory insufficiency due to muscle weakness	ORPHA:600
Melkersson-Rosenthal Syndrome	Abnormal autonomic nervous system physiology, Facial palsy	ORPHA:2483
Amyloidosis, Hereditary, Transthyretin-Related	Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction	OMIM:105210
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormal autonomic nervous system p...	ORPHA:99027
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Optic atrophy, Stridor, Pulmonary arterial hypertension, Airway obstruction	ORPHA:505248
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Central apnea, Hyperventilation	ORPHA:522077
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Generalized hypotonia	OMIM:300968
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Jaundice, Optic atrophy, Pulmonary arterial hypertension	ORPHA:79282
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu...	ORPHA:340
Machado-Joseph Disease	Abnormal autonomic nervous system physiology	OMIM:109150
Familial Dysautonomia	Orthostatic hypotension, Acrocyanosis, Optic atrophy	ORPHA:1764
Transketolase Deficiency	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	ORPHA:488618
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short attention span, Head-banging, Self-injurious behavior, Attention deficit hyperactivity diso...	OMIM:619575
Aceruloplasminemia	Memory impairment, Abnormal thalamic MRI signal intensity, Cognitive impairment	ORPHA:48818
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
Romano-Ward Syndrome	Abnormal autonomic nervous system physiology	ORPHA:101016
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Pleural effusion, Hypotonia	OMIM:620369
Acute Liver Failure	Jaundice, Abnormal respiratory system physiology, Hypocapnia, Bruising susceptibility, Abnormal p...	ORPHA:90062
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Hypotonia, F...	OMIM:614748
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology	ORPHA:85451
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Apnea, Hypertonia, Dystonia, Infantile muscular hypotonia	ORPHA:17
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul...	ORPHA:97214
Intellectual Developmental Disorder, Autosomal Dominant 57	Hyperventilation	OMIM:618050
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress	OMIM:260400
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Urticaria, Interstitial pneumonitis, Pneumonia, Respiratory distress	ORPHA:37042
Tay-Sachs Disease	Memory impairment, Short attention span, Abnormal thalamic MRI signal intensity, Dysphagia	ORPHA:845
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Meningioma	Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p...	ORPHA:2495
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:231550
Sandhoff Disease, Infantile Form	Abnormal thalamic MRI signal intensity	ORPHA:309155
Congenital Disorder Of Deglycosylation 2	Hypothalamic hamartoma, Dysphagia	OMIM:619775
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure	ORPHA:533
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Abnormal autonomic nervous system physiology	ORPHA:83601
Adnp Syndrome	Respiratory distress, Hypertonia, Infantile muscular hypotonia, Aspiration, Generalized neonatal ...	ORPHA:404448
Alexander Disease	Abnormal autonomic nervous system physiology, Facial palsy, Respiratory insufficiency	ORPHA:58
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Cyanosis	OMIM:306955
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Neonatal hypotonia, Severe muscular hypotonia	ORPHA:177907
Tay-Sachs Disease	Aspiration	OMIM:272800
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Neonatal respiratory distress, Apnea, Erythema, Stridor, Aspiration	OMIM:614653
Pitt-Hopkins Syndrome	Intermittent hyperventilation	OMIM:610954
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles	OMIM:305100
Hyperparathyroidism, Transient Neonatal	Respiratory distress	OMIM:618188
Dermatomyositis	Telangiectasia of the skin, Erythema, Hypotonia, Respiratory insufficiency, Acrocyanosis, Pulmona...	ORPHA:221
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Aspiration, Neonatal respiratory distress, Death in infancy	OMIM:618922
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea, Abnormal autonomic nervous system physiology	ORPHA:3206
Heterotaxy, Visceral, 7, Autosomal	Cyanosis	OMIM:616749
Arboleda-Tham Syndrome	Respiratory distress, Neonatal respiratory distress, Axial hypotonia, Hypotonia, Lower limb hyper...	OMIM:616268
Congenital Disorder Of Glycosylation, Type Im	Aspiration, Death in infancy	OMIM:610768
Aicardi-Goutières Syndrome	Extrapyramidal muscular rigidity, Cutis marmorata, Axial hypotonia, Dystonia, Spastic tetraplegia...	ORPHA:51
Hyperoxaluria, Primary, Type I	Optic atrophy, Acrocyanosis, Cutis marmorata, Optic neuropathy	OMIM:259900
Congenital Muscular Dystrophy With Cerebellar Involvement	Decreased thalamic volume	ORPHA:370959
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of the diencephalon	ORPHA:2720
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Emphysema	OMIM:224690
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin	ORPHA:79404
Trisomy 20P	Abnormal autonomic nervous system physiology	ORPHA:261318
Leigh Syndrome	Abnormal thalamic MRI signal intensity, Progressive neurologic deterioration, Dysphagia	ORPHA:506
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy...	ORPHA:99125
Scimitar Syndrome	Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough	ORPHA:185
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper...	ORPHA:740
Combined Oxidative Phosphorylation Defect Type 29	Abnormal autonomic nervous system physiology, Optic neuropathy	ORPHA:478029
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Halperin-Birk Syndrome	Aspiration, Optic atrophy, Death in childhood	OMIM:618651
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Pleural effusion, Abnormal autonomic nervous system physiology	ORPHA:453499
Parkinson Disease 23, Autosomal Recessive Early-Onset	Abnormal autonomic nervous system physiology	OMIM:616840
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Abnormality of the peripheral nervous system, Vascu...	ORPHA:48435
Rhombencephalosynapsis	Fusion of the left and right thalami	ORPHA:59315
Young-Onset Parkinson Disease	Abnormal autonomic nervous system physiology	ORPHA:2828
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2554
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal autonomic nervous system physiology, Abnormal cranial nerve morphology	ORPHA:247234
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Facial hypotonia, Hypotonia	OMIM:615273
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Hypotonia, Stridor, Tracheomalacia, T...	OMIM:114290
Acute Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529808
Coccidioidomycosis	Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion	ORPHA:228123
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Nasal flaring, Oral motor hypotonia, Infantile muscular hypotonia	ORPHA:466943
Neuroleptic Malignant Syndrome	Abnormal autonomic nervous system physiology, Aspiration pneumonia, Pulmonary embolism	ORPHA:94093
Parkinson Disease, Late-Onset	Abnormal autonomic nervous system physiology	OMIM:168600
Choreoacanthocytosis	Bradyphrenia, Short attention span, Self-mutilation of tongue and lips due to involuntary movemen...	ORPHA:2388
Primary Hyperoxaluria	Optic atrophy, Acrocyanosis, Cutis marmorata, Optic disc pallor	ORPHA:416
Truncus Arteriosus	Cyanosis, Tachypnea	ORPHA:3384
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:146500
Leptospirosis	Respiratory distress, Papilledema, Jaundice, Cough, Pleural effusion	ORPHA:509
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Erythema	ORPHA:2556
Renal Nutcracker Syndrome	Orthostatic hypotension, Abnormal autonomic nervous system physiology	ORPHA:71273
Parkinsonian-Pyramidal Syndrome	Abnormal autonomic nervous system physiology	ORPHA:171695
Hydranencephaly	Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland	ORPHA:2177
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Tuberous Sclerosis Complex	Respiratory distress, Respiratory failure, Generalized abnormality of skin	ORPHA:805
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Tick-Borne Encephalitis	Abnormal glossopharyngeal nerve morphology, Abnormal autonomic nervous system physiology, Facial ...	ORPHA:297
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co...	ORPHA:95455
Lambert-Eaton Myasthenic Syndrome	Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction	ORPHA:43393
Schinzel-Giedion Syndrome	Respiratory distress, Recurrent pneumonia, Aganglionic megacolon	ORPHA:798
Pallister-Hall Syndrome	Panhypopituitarism, Decreased response to growth hormone stimulation test, Hypothalamic hamartoma	OMIM:146510
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosi...	ORPHA:287
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension, Cyanosis	ORPHA:51608
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hair-pulling, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia	ORPHA:447997
Orofaciodigital Syndrome Type 6	Hypothalamic hamartoma	ORPHA:2754
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Fusion of the left and right thalami	OMIM:619306
Acute Transverse Myelitis	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction	ORPHA:139417
Rubinstein-Taybi Syndrome 1	Respiratory distress, Hypotonia	OMIM:180849
Fragile X-Associated Tremor/Ataxia Syndrome	Abnormal autonomic nervous system physiology	ORPHA:93256
Bickerstaff Brainstem Encephalitis	Confusion, Abnormal thalamic MRI signal intensity	ORPHA:79138
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Acrocyanosis, Apnea	ORPHA:285
Orofaciodigital Syndrome Vi	Hypothalamic hamartoma	OMIM:277170
Gitelman Syndrome	Respiratory distress	ORPHA:358
Nmda Receptor Encephalitis	Orthostatic tachycardia, Abnormal sudomotor regulation, Abnormal autonomic nervous system physiol...	ORPHA:217253
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
8Q24.3 Microdeletion Syndrome	Respiratory distress, Optic nerve hypoplasia	ORPHA:508488
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte...	OMIM:620330
Microphthalmia, Syndromic 3	Anterior pituitary hypoplasia, Hypothalamic hamartoma	OMIM:206900
Leprosy	Epistaxis, Abnormality of the seventh cranial nerve, Abnormal autonomic nervous system physiology	ORPHA:548
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress	ORPHA:83617
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
Doors Syndrome	Respiratory distress, Optic atrophy, Aspiration pneumonia	ORPHA:79500
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Neonatal hypotonia	ORPHA:2255
Norrie Disease	Self-injurious behavior, Abnormality of the diencephalon, Abnormal repetitive mannerisms, Attenti...	ORPHA:649
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thalamic hemorrhage	ORPHA:464321
Coffin-Lowry Syndrome	Acrocyanosis, Cutis marmorata, Hypotonia	OMIM:303600
Orofaciodigital Syndrome I	Hypothalamic hamartoma	OMIM:311200
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax	ORPHA:3404
Hereditary Cryohydrocytosis With Reduced Stomatin	Decreased thalamic volume	ORPHA:168577
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis	ORPHA:216694
Pallister-Hall Syndrome	Adrenocorticotropic hormone deficiency, Gonadotropin deficiency, Pituitary hypothyroidism, Abnorm...	ORPHA:672
Plague	Respiratory distress, Acute infectious pneumonia	ORPHA:707
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Infantile muscular hypotonia	ORPHA:480880
Williams Syndrome	Abnormality of the diencephalon, Compulsive behaviors, Attention deficit hyperactivity disorder, ...	ORPHA:904
Holoprosencephaly 7	Fusion of the left and right thalami, Panhypopituitarism	OMIM:610828
Monosomy 22Q13.3	Hair-pulling, Hyperactivity, Bruxism	ORPHA:48652
Pallister-Killian Syndrome	Stillbirth, Apneic episodes in infancy, Hyperventilation	OMIM:601803
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Recurrent pneumonia, Generalized hypotonia	ORPHA:99646
Prader-Willi Syndrome Due To Imprinting Mutation	Neonatal hypotonia	ORPHA:177910
Alström Syndrome	Respiratory distress, Optic disc pallor, Dorsocervical fat pad, Chronic pulmonary obstruction, Re...	ORPHA:64
Pmm2-Cdg	Respiratory distress, Abnormal subcutaneous fat tissue distribution, Axial hypotonia, Aspiration ...	ORPHA:79318
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ndn

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ndn.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.	American journal of human genetics (December 2019)	Ndnf^{tm1(NCOM)Mfgc}	PMC7042563

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Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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