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Gene: Phox2a MGI:106633

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
paired-like homeobox 2a
Synonyms:
Pmx2a,  Arix,  Px2a,  Pmx2

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 Phox2a 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 Phox2a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Fibrosis Of Extraocular Muscles
Optic nerve hypoplasia ORPHA:45358
Fibrosis Of Extraocular Muscles, Congenital, 2
OMIM:602078

The table below shows human diseases predicted to be associated to Phox2a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Acid-Labile Subunit Deficiency
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Mild postnatal growth retard... OMIM:615961
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, P... OMIM:262400
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Growth delay, Delayed ... ORPHA:314802
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins... OMIM:262700
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Growth delay, Delayed ... ORPHA:314811
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Severe short stature, Hypoglycemia OMIM:223500
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Abnormality of the seventh cranial n... ORPHA:90117
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati... ORPHA:171706
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hypothyroidism, Congenital, Nongoitrous, 7
Short stature, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Growth de... OMIM:618573
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... ORPHA:324575
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... OMIM:300770
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia ORPHA:366
Persistent Idiopathic Facial Pain
Abnormal autonomic nervous system physiology ORPHA:398147
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... ORPHA:276608
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Respiratory insufficiency, Peripheral hypomyelination,... OMIM:605253
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Intrauterine growth retardation, Ketotic hypoglycemia, Lethargy ORPHA:26792
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Apneic episodes in infancy, Hypoglycemia OMIM:610006
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Excessive insulin response to glucagon test, Maternal diabetes, Hyperinsulinemia, Hypoglycemic se... ORPHA:276580
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... ORPHA:140896
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Mitchell Syndrome
Respiratory insufficiency due to muscle weakness, Sensory axonal neuropathy, Abnormal autonomic n... OMIM:618960
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Glycogen Storage Disease Vi
Postnatal growth retardation, Hypoglycemia OMIM:232700
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO OMIM:616414
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype... OMIM:620211
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Excessive insulin response to glucagon test, Hyperinsulinemia, Hypoglycemic seizures, Fasting hyp... ORPHA:276575
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Diffuse pancreatic islet hy... ORPHA:276556
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Cardiomyopathy, Dilated, 2H
Tachypnea, Cardiorespiratory arrest OMIM:620203
Hypoadrenocorticism, Familial
Cyanosis, Hypoglycemia, Apnea, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Short stature, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Lethargy ORPHA:2089
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Riboflavin Deficiency
Lethargy, Hypoglycemia OMIM:615026
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postnatal growth reta... ORPHA:453533
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Increased circulating procalcitonin concentration, Diabetes mellitus, Pneum... ORPHA:36238
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Neonatal Hemochromatosis
Hypoglycemia, Prolonged neonatal jaundice ORPHA:446
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Apnea, Dyspnea, Lethargy, Hyperventilation OMIM:229700
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... OMIM:262600
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
3-Methylglutaconic Aciduria Type 1
Hypoglycemia ORPHA:67046
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation, Hypoglycemia OMIM:616111
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Short stature, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsuli... OMIM:262190
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Neona... ORPHA:293964
Infantile Liver Failure Syndrome 2
Lethargy, Jaundice, Hypoglycemia OMIM:616483
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i... ORPHA:552
High Altitude Pulmonary Edema
Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Short stature, Hypoglycemia OMIM:618120
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Neuralgic Amyotrophy
Acrocyanosis, Short stature, Respiratory insufficiency ORPHA:2901
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Hypoglycemia OMIM:246900
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Respiratory insufficiency ORPHA:6
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hypoglycemia OMIM:614741
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Respiratory failure, Hypoglycemia, Adrenal insufficiency OMIM:619386
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Respiratory arrest, Hypoketotic hypoglycemia OMIM:600649
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Acrocyanosis OMIM:302000
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Hypoglyc... OMIM:613986
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Hypoglycemia, Apnea, Fasting hypoglycemia, Impaired gluconeogenesis OMIM:261680
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Lethargy, Cyanosis ORPHA:71277
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Postnatal growth retardation, Short stature, Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Meconium Aspiration Syndrome
Respiratory distress, Maternal diabetes, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Pu... ORPHA:70588
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Lethargy, Diabetes mellitus, Hypogonadism ORPHA:79230
Febrile Infection-Related Epilepsy Syndrome
Lethargy, Sinusitis, Cough ORPHA:163703
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... OMIM:600955
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... ORPHA:217563
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Respiratory insufficiency OMIM:618224
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Diabetes mellitus, Short stature ORPHA:49827
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Hypoglycemia, Apnea OMIM:619048
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea, Elevated circulating growth hormone concentration, Abnormal response to glucagon stimulati... ORPHA:79644
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Hypoglycemia ORPHA:231147
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Growth delay, Cough, Pulmonary art... ORPHA:2414
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Lethargy, Respiratory insufficiency due to muscle weakness, Respiratory distress OMIM:613561
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Lethal Infantile Mitochondrial Myopathy
Lethargy, Neonatal respiratory distress ORPHA:254857
Developmental And Epileptic Encephalopathy 40
Intrauterine growth retardation, Lethargy OMIM:617065
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Evans Syndrome
Epistaxis, Dyspnea, Jaundice, Lethargy, Bruising susceptibility, Petechiae ORPHA:1959
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea OMIM:620085
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency, Fasting hypoglycemia, Lethargy, Hypok... ORPHA:159
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Short stature, Delayed thelarche, Hyperinsulinemic hypo... OMIM:616033
Glycogen Storage Disease Ixb
Growth delay, Short stature, Hypoglycemia OMIM:261750
Joubert Syndrome 7
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:611560
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Short stature ORPHA:329249
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy OMIM:237310
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Glycosuria, Lethargy, ... ORPHA:263455
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Polyendocrine-Polyneuropathy Syndrome
Short stature, Anterior pituitary hypoplasia, Hypoglycemia, Hypogonadotropic hypogonadism, Postna... OMIM:616113
Carnitine Deficiency, Systemic Primary
Impaired gluconeogenesis, Lethargy, Recurrent hypoglycemia, Respiratory distress OMIM:212140
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy ORPHA:79283
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy, Breathing dysregulation, Hypoventilation OMIM:618232
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d... OMIM:201400
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Hypoglycemia, Apnea OMIM:210200
Mehmo Syndrome
Hypoglycemia, Decreased response to growth hormone stimulation test, Birth length less than 3rd p... OMIM:300148
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Lethargy OMIM:274270
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadis... ORPHA:95619
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Decreased distal sensory nerve action potential, Axonal loss, Abnormal autono... OMIM:614575
Hemochromatosis, Neonatal
Intrauterine growth retardation, Hypoglycemia, Prolonged neonatal jaundice OMIM:231100
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Apnea OMIM:610992
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Apathy, Respiratory distress, Depression ORPHA:240085
Classic Galactosemia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Jaundice, Depression, Delayed puberty... ORPHA:79239
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... ORPHA:95717
Tetanus
Respiratory distress, Tachypnea, Abnormal autonomic nervous system physiology, Autonomic bladder ... ORPHA:3299
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension, Stillbirth, Neonatal death, Intrauterine g... OMIM:619751
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea ORPHA:1832
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Decreased nerve conduction velocity, Tachypnea, Axonal degenerati... OMIM:604320
Hereditary Central Diabetes Insipidus
Growth delay, Lethargy, Diabetes insipidus ORPHA:30925
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Hypoglycemia, Respiratory insufficiency, Growth delay, Respiratory... OMIM:245400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hypoglycemia ORPHA:364
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... ORPHA:2257
2P21 Microdeletion Syndrome
Growth delay, Hypogonadism, Hypoglycemia ORPHA:163693
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Hirschsprung Disease, Susceptibility To, 3
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon OMIM:613711
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Propionic Acidemia
Short stature, Apnea, Hypoglycemia, Tachypnea, Lethargy OMIM:606054
Bardet-Biedl Syndrome 16
Respiratory distress, Hypogonadism, Short stature OMIM:615993
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy... OMIM:617872
Thyroid Dyshormonogenesis 1
Growth delay, Lethargy, Hypothyroidism, Goiter OMIM:274400
Myopathy And Diabetes Mellitus
Type I diabetes mellitus, Respiratory distress ORPHA:2596
Glycogen Storage Disease Ixc
Postnatal growth retardation, Growth delay, Hypoglycemia, Fasting hypoglycemia OMIM:613027
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71526
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... OMIM:265120
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Short stature, Hypogonadotropic hypogonadism, Hypoglycemia ORPHA:48431
Temple Syndrome
Short stature, Decreased response to growth hormone stimulation test, Postnatal growth retardatio... ORPHA:254516
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Hypoglycemia OMIM:201450
Diarrhea 13
Recurrent hypoglycemia OMIM:620357
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Hypoglycemia ORPHA:156
Pyruvate Dehydrogenase E3 Deficiency
Lethargy, Hypoglycemia ORPHA:2394
Pyridoxine-Dependent Epilepsy
Neonatal asphyxia, Neonatal respiratory distress, Hypoglycemia ORPHA:3006
Hyperlysinuria With Hyperammonemia
Growth delay, Lethargy OMIM:238750
Combined Oxidative Phosphorylation Deficiency 36
Premature skin wrinkling, Hypoglycemia OMIM:617950
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Respiratory insufficiency OMIM:618241
Propionic Acidemia
Hypoglycemia ORPHA:35
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Episodic tachypnea OMIM:615160
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemia, Exertional dyspnea ORPHA:42
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Malonyl-Coa Decarboxylase Deficiency
Neonatal respiratory distress, Short stature, Hypoglycemia OMIM:248360
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Postnatal growth retardation, Short stature, Hypoglycemia ORPHA:231137
Laron Syndrome
Severe short stature, Prematurely aged appearance, Hypoglycemia, Abnormality of the endocrine sys... ORPHA:633
Glycogen Storage Disease Iii
Short stature, Hypoglycemia OMIM:232400
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Proportionate short stature, Neonatal hypoglycemia, Fasting hyperinsulinemia, Hypoglycemic seizur... ORPHA:71212
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Short stature OMIM:300580
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Mitochondrial Complex I Deficiency, Nuclear Type 5
Growth delay, Lethargy, Apnea, Respiratory insufficiency OMIM:618226
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Lethargy, Tachypnea, Respiratory arrest OMIM:201475
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Severe short stature, Lymphocytic interstitial pneumonia, Decreased respons... OMIM:245590
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Apnea, Respiratory insufficiency OMIM:618228
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
3-Methylglutaconic Aciduria Type 4
Hypoglycemia ORPHA:67048
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Maple Syrup Urine Disease
Lethargy, Hypoglycemia OMIM:248600
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Lethargy, Hypoglycemia OMIM:251000
Glycine Encephalopathy 1
Lethargy OMIM:605899
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Apnea OMIM:618225
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Carnitine-Acylcarnitine Translocase Deficiency
Cardiorespiratory arrest, Lethargy, Hypoglycemia, Neonatal hypoglycemia OMIM:212138
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Growth delay, Short stature, Hypoglycemia, Delayed puberty ORPHA:369
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Hypoglycemia, Postnatal growth retardation, Insulin resistance, Severe postnatal g... ORPHA:73272
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Respiratory insufficiency ORPHA:28
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... OMIM:202200
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Growth delay, Lethargy, Respiratory distress ORPHA:289916
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecific interstitial pn... OMIM:610921
Silver-Russell Syndrome 2
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia OMIM:618905
Glycogen Storage Disease Ixa1
Growth delay, Hypoglycemia OMIM:306000
Benign Samaritan Congenital Myopathy
Lethargy, Abnormal respiratory system physiology ORPHA:324581
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni... OMIM:614736
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Lethargy OMIM:610498
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebellar atrophy, Optic disc pallor, Tachypnea, Respiratory failure, Atrophy/Degeneration affec... OMIM:615838
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Short stature, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism, Del... ORPHA:95496
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Cyanosis, Exertional dyspnea OMIM:250800
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hypoglycemia, Episodic tachypnea, Intermittent hyperventilation, Dyspnea, A... ORPHA:348
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycemic seizures, Adrenocorticotro... ORPHA:199296
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea, Optic atrophy, Respiratory insufficiency, Respiratory failure OMIM:614299
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Blue Diaper Syndrome
Decreased circulating T4 concentration, Recurrent hypoglycemia, Elevated circulating thyroid-stim... ORPHA:94086
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Intrauterin... OMIM:618253
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature OMIM:619489
Succinic Acidemia
Respiratory distress OMIM:600335
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Congenital Laryngeal Web
Respiratory distress, Stridor, Short stature ORPHA:2374
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Hypoglycemia OMIM:618958
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Aganglionic megacolon, Apnea, Tachypnea, Molar tooth sign on MRI ORPHA:2318
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia OMIM:618835
Leukoencephalopathy With Vanishing White Matter 1
Lethargy, Primary gonadal insufficiency, Decreased circulating progesterone OMIM:603896
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia OMIM:618839
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Crigler-Najjar Syndrome
Lethargy, Jaundice ORPHA:205
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy, Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Familial Renal Glucosuria
Insulin resistance, Moderate postnatal growth retardation, Abnormal circulating insulin concentra... ORPHA:69076
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion ORPHA:50251
Holocarboxylase Synthetase Deficiency
Growth delay, Lethargy, Tachypnea, Respiratory distress ORPHA:79242
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Pyruvate Dehydrogenase Deficiency
Dyspnea, Tachypnea, Growth delay, Intrauterine growth retardation, Lethargy ORPHA:765
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Necrotizing Enterocolitis
Lethargy, Hyperglycemia, Apnea, Abnormal glucose homeostasis ORPHA:391673
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Pneumonia, Jaundice, Tachypnea, Lethargy, Hypoketotic h... ORPHA:26793
Severe Canavan Disease
Lethargy ORPHA:314911
Dihydropyrimidinase Deficiency
Growth delay, Lethargy OMIM:222748
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy, Respiratory failure, Respiratory insufficiency, Hypoketotic hypoglycemia OMIM:609015
Multifocal Atrial Tachycardia
Dyspnea, Lethargy, Tachypnea, Hypothyroidism ORPHA:3282
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Growth delay, Glucose intolerance, Acrocyanosis, Impaired glucose tolerance OMIM:614407
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Insulin-resistant diabetes mellitus at puberty, Hyperinsulin... ORPHA:280356
Pontocerebellar Hypoplasia, Type 6
Lethargy, Apnea OMIM:611523
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... ORPHA:35689
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Hypoketotic hypoglycemia OMIM:255120
Tenorio Syndrome
Apnea, Hypoglycemia, Hypoinsulinemia, Recurrent pneumonia OMIM:616260
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Prominent superficial veins, Maternal diabetes, Insulin resi... OMIM:604367
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Short stature ORPHA:369873
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough ORPHA:77260
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Thyroid Lymphoma
Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Stridor, Hypothyroidism... ORPHA:97285
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Hypoglycemia, Jaundice, Intrauterine growth retardation, Lethargy OMIM:617156
Combined Oxidative Phosphorylation Deficiency 10
Intrauterine growth retardation, Pleural effusion, Hypoglycemia OMIM:614702
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Abnormal autonomic nervous system physiology, Hyperventilation OMIM:617903
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia OMIM:620137
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... OMIM:619326
Galactokinase Deficiency
Neonatal asphyxia, Hyperinsulinemia, Hypoglycemia, Hypergonadotropic hypogonadism ORPHA:79237
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Breath-Holding Spells
Cyanosis OMIM:607578
Haddad Syndrome
Aganglionic megacolon, Central hypoventilation, Breathing dysregulation, Abnormal autonomic nervo... ORPHA:99803
Central Diabetes Insipidus
Lethargy, Diabetes insipidus, Depression ORPHA:178029
Isolated Atp Synthase Deficiency
Respiratory distress, Short stature, Hypogonadism, Lethargy, Hypothyroidism ORPHA:254913
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia ORPHA:289504
Restrictive Dermopathy 2
Respiratory distress, Intrauterine growth retardation, Cyanosis OMIM:619793
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria ORPHA:100057
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... ORPHA:137914
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Dorsocervical fat pad, Hypoglycemia, Proportionate short stature, Severe postn... ORPHA:391408
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Cholera
Hypoglycemia, Tachypnea, Aspiration pneumonia, Palmoplantar cutis laxa, Lethargy, Hyperventilation ORPHA:173
Immunodeficiency, Common Variable, 10
Hypoglycemia, Decreased response to growth hormone stimulation test, Asthma, Recurrent pneumonia,... OMIM:615577
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy, Jaundice, Tachypnea, Hypoglycemia OMIM:615751
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Solitary Fibrous Tumor
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia ORPHA:2126
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Lethargy ORPHA:79312
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Rhizomelia, Hypoglycemia, Recurrent pneumonia, Lethargy OMIM:607143
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
Hemochromatosis, Type 2A
Lethargy, Hypogonadotropic hypogonadism OMIM:602390
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia, Postnatal growth retardation, Asthma, Intrauterine growth retardation, Hypothyroidism ORPHA:397590
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cort... ORPHA:1227
Atypical Rett Syndrome
Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:3095
Donohue Syndrome
Postnatal growth retardation, Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperpl... OMIM:246200
Joubert Syndrome 3
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608629
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation, Respiratory distress OMIM:616733
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Short stature, Decreased response to growth hormone stimulation test, Fasting hypoglycemia ORPHA:436174
Cyclic Vomiting Syndrome
Growth delay, Lethargy OMIM:500007
Isolated Complex I Deficiency
Diabetes mellitus, Hypoglycemia, Respiratory insufficiency, Intrauterine growth retardation, Leth... ORPHA:2609
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hypoglycemia, Jaundice, Glycosuria, Neonatal death OMIM:231680
Citrullinemia Type I
Tachypnea ORPHA:247525
Joubert Syndrome
Cerebellar vermis hypoplasia, Aganglionic megacolon, Apnea, Episodic tachypnea, Abnormal pattern ... ORPHA:475
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Diabetes mellitus, Hypogonadotropic hypogonadism, Apa... ORPHA:465508
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Prominent superficial veins, Short stature, Growth delay, Recurrent hypoglycemia, Delayed puberty... OMIM:616817
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Anaplastic thyroid carcinoma, C... ORPHA:142
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Pulmonary arterial hypertension OMIM:619064
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Hypercalcemia, Infantile, 1
Lethargy, Decreased circulating parathyroid hormone level OMIM:143880
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Apnea, Jaundice, Tachypnea, Recurrent hypoglycemia, Apathy, Lethargy ORPHA:20
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Lethargy, Tachypnea, Pulmonary arterial hypertension OMIM:614857
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Respiratory insufficiency, Respiratory failure, Lethargy, Hypoketotic hypogly... ORPHA:746
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Lethargy, Inspiratory stridor, Irregular respiration OMIM:604377
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Cholestasis, Progressive Familial Intrahepatic, 5
Pleural effusion, Jaundice, Hypoglycemia OMIM:617049
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Joubert Syndrome 2
Central apnea, Neonatal breathing dysregulation, Agenesis of cerebellar vermis, Brainstem dysplas... OMIM:608091
Pure Autonomic Failure
Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:441
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Chronic cough, Pulmonary arterial hypertensi... OMIM:620233
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Intrauterine growth retardation, Hypoglycemia, Hypoventilation OMIM:620275
Hereditary Fructose Intolerance
Growth delay, Lethargy, Jaundice, Reactive hypoglycemia ORPHA:469
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperventilation OMIM:253270
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Renal Hypoplasia, Bilateral
Neonatal respiratory distress, Short stature, Growth delay, Glycosuria, Lethargy ORPHA:97362
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure, Neonatal death, ... OMIM:605711
Hsd10 Disease, Infantile Type
Cyanosis, Hypoglycemia ORPHA:391428
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Short stature ORPHA:66518
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Muscular Dystrophy, Congenital, With Or Without Seizures
Type I diabetes mellitus, Respiratory failure, Respiratory distress OMIM:620166
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology OMIM:611890
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Neonatal respiratory distress, Hypoglycemia, Apnea, Respiratory insuffic... OMIM:608836
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Dengue Fever
Epistaxis, Cardiorespiratory arrest, Lethargy, Bruising susceptibility, Petechiae ORPHA:99828
Congenital Heart Block
Intrauterine growth retardation, Pleural effusion, Cyanosis, Crackles ORPHA:60041
Biotinidase Deficiency
Tachypnea, Diffuse cerebellar atrophy, Optic atrophy, Apnea OMIM:253260
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy ORPHA:927
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Pituitary adenoma, Decrea... ORPHA:199299
Joubert Syndrome 1
Central apnea, Optic disc pallor, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Br... OMIM:213300
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Short stature, Perianal erythema, Hypogonadism, Perioral erythema, Lethargy, Decreased serum test... OMIM:201100
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Respiratory distress ORPHA:240103
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Hypergonadotropic hypogonadism, Decreased response to growth hormon... OMIM:606407
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased pineal volume, Short stature, Impaired glucose tol... ORPHA:769
Scrub Typhus
Dyspnea, Lethargy, Restrictive ventilatory defect, Cough ORPHA:83317
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Pituitary hypothyroidism, Depression, Growth delay, ... ORPHA:90674
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Apnea, Severe intrauterine ... OMIM:609069
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Growth delay, Hypoglycemic seizures, Hypoketotic hypoglycemia OMIM:231530
Malaria
Respiratory distress ORPHA:673
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hypoglycemia OMIM:616355
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, Congenital ... ORPHA:226313
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Diabetes mellitus, Short stature, Hypoglycemia OMIM:616026
Insulin-Resistance Syndrome Type B
Pneumonia, Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsulinemi... ORPHA:2298
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Pneumonia, Jaundice, Inc... ORPHA:90790
Typhoid
Lethargy, Epistaxis, Cough ORPHA:99745
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Dyspnea, Insulin resistance, Hyperinsulinemia, Rhinitis ORPHA:230
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Respiratory insufficiency, Lethargy, Pleural effusion, Petec... OMIM:617397
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea, Maternal diabetes ORPHA:860
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Timothy Syndrome
Hypothyroidism, Pulmonary arterial hypertension, Hypoglycemia, Pneumonia OMIM:601005
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea ORPHA:2872
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Short stature, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Cog8-Cdg
Spontaneous hematomas, Hypoglycemia ORPHA:95428
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Apathy, Hypoglycemia OMIM:246450
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis ORPHA:444013
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Slc35A1-Cdg
Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage ORPHA:238459
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea OMIM:613320
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Serotonin Syndrome
Abnormality of the autonomic nervous system, Tachypnea ORPHA:43116
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Respiratory insufficiency ORPHA:27
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Respiratory failure ORPHA:363400
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Aganglionic megacolon, Central hypoventilation, Hypercapnia, Hypoxemia, A... OMIM:209880
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy, Hypoglycemia OMIM:210210
Beta-Ketothiolase Deficiency
Hypoglycemia, Tachypnea, Apathy, Cough, Hyperglycemia ORPHA:134
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Growth delay, Hyperglycemia, Hypoglycemia OMIM:615453
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Combined Oxidative Phosphorylation Deficiency 11
Neonatal death, Lethargy, Respiratory failure, Stillbirth OMIM:614922
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, Hypoglycemia, Apnea, Respiratory insufficiency, Growth delay, Respiratory failure, Leth... OMIM:252010
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
Meningococcal Meningitis
Lethargy, Neonatal respiratory distress, Petechiae, Purpura ORPHA:33475
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... ORPHA:90791
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Susac Syndrome
Lethargy, Apathy ORPHA:838
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy OMIM:233910
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Intrauterine growth retardation, Hypoglycemia OMIM:617710
Leprosy
Epistaxis, Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Abnormal autonomi... ORPHA:548
Coronary Arterial Fistula
Orthopnea, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea ORPHA:2041
Autosomal Dominant Progressive External Ophthalmoplegia
Bipolar affective disorder, Diabetes mellitus, Hyperthyroidism, Goiter, Respiratory insufficiency... ORPHA:254892
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Short stature, Hypoglycemia, Growth delay, Adrenal insufficiency, Leth... OMIM:307030
D-Glyceric Aciduria
Growth delay, Neonatal respiratory distress, Hypoglycemia OMIM:220120
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Cyanosis, Elevated circulatin... OMIM:250790
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Tricuspid Atresia
Cyanosis ORPHA:1209
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Hypoglycemia, Pulmonary embolism, Jaundice, Growth delay, Pulmonary arteria... ORPHA:79282
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Postnatal growth retardation, Intrauterine growth retardation, Jaundice, Hypoglycemia OMIM:617093
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Short stature OMIM:611590
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy OMIM:250620
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia ORPHA:596
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress OMIM:616974
Joubert Syndrome 17
Hyperventilation OMIM:614615
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Absence of pubertal develo... ORPHA:398079
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... ORPHA:2038
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Chronic lung disease, Cerebellar vermis hypoplasia, Apnea, Abnormal cerebellum morphology, Tachyp... ORPHA:397715
Congenital Disorder Of Glycosylation, Type Iie
Short stature, Hypoglycemia, Neonatal asphyxia, Jaundice, Respiratory insufficiency, Growth delay... OMIM:608779
Congenital Disorder Of Glycosylation, Type It
Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Dyspnea, Growth delay,... OMIM:614921
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Myasthenia Gravis
Hyperthyroidism, Dyspnea, Primary adrenal insufficiency, Abnormal thymus morphology, Glycosuria, ... ORPHA:589
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Intrauterine growth retardation, Lethargy ORPHA:2169
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress OMIM:615042
Histiocytoid Cardiomyopathy
Cyanosis, Hypoglycemia, Tachypnea, Cough, Lethargy ORPHA:137675
Mirage Syndrome
Short stature, Hypoglycemia, Adrenal hypoplasia, Hypergonadotropic hypogonadism, Adrenal insuffic... OMIM:617053
Buerger Disease
Acrocyanosis ORPHA:36258
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Intrauterine growth retardation ORPHA:261304
Tetrasomy 5P
Postnatal growth retardation, Pulmonary arterial hypertension, Cyanosis, Respiratory distress ORPHA:3309
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Silver-Russell Syndrome 1
Intrauterine growth retardation, Decreased response to growth hormone stimulation test, Fasting h... OMIM:180860
3-Methylglutaconic Aciduria, Type Viii
Apnea, Jaundice, Growth delay, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest,... OMIM:617248
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Cyanotic episode ORPHA:284417
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Stt3B-Cdg
Respiratory distress, Intrauterine growth retardation ORPHA:370924
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Hypoglycemia OMIM:620300
Smith-Kingsmore Syndrome
Rhizomelia, Hypoglycemia OMIM:616638
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration OMIM:620011
Cirrhosis, Familial
Lethargy, Jaundice, Pulmonary arterial hypertension OMIM:215600
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Rhizomelia, Recurrent pneumonia, Growth delay, Intrauterine growth retardat... OMIM:616271
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory failure ORPHA:26791
Isovaleric Acidemia
Lethargy OMIM:243500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Intrauterine growth retardation OMIM:615597
Reni Syndrome
Hypogonadism, Hypothyroidism, Hypoglycemia, Adrenal insufficiency OMIM:617575
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia OMIM:606763
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal death, Intrauterine growth retardation, Hypoglycemia, Neonatal hypoglycemia OMIM:619055
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
Fanconi-Bickel Syndrome
Diabetes mellitus, Impaired glucose tolerance, Growth delay, Fasting hypoglycemia, Glycosuria, Po... ORPHA:2088
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy OMIM:238970
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Double Outlet Right Ventricle
Hypoparathyroidism, Cyanosis, Short stature, Tachypnea, Aplasia/Hypoplasia of the thymus ORPHA:3426
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Disproportionate short sta... OMIM:616482
Mandibuloacral Dysplasia
Increased subcutaneous truncal adipose tissue, Postnatal growth retardation, Insulin resistance, ... ORPHA:2457
Poems Syndrome
Diabetes mellitus, Respiratory insufficiency due to muscle weakness, Abnormality of the endocrine... ORPHA:2905
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology ORPHA:275872
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... OMIM:243910
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... ORPHA:90051
Silver-Russell Syndrome
Short stature, Postnatal growth retardation, Precocious puberty, Insulin resistance, Recurrent hy... ORPHA:813
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Pleural effusion, Neonatal hypoglycemia OMIM:261740
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Short stature, Precocious puberty, Absence of pubertal development, Central h... ORPHA:398069
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Short stature, Central hypoventilation, Decreased response to growth h... ORPHA:293987
Ogden Syndrome
Postnatal growth retardation, Lethargy ORPHA:276432
Esophageal Atresia
Respiratory distress, Cyanosis, Maternal diabetes, Episodic respiratory distress, Chronic pulmona... ORPHA:1199
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Chitayat Syndrome
Respiratory distress, Short stature, Tracheomalacia OMIM:617180
Mandibuloacral Dysplasia With Type B Lipodystrophy
Prominent superficial veins, Decreased adipose tissue around neck, Progeroid facial appearance, I... OMIM:608612
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Intrauterine growth retardation ORPHA:89844
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia OMIM:619046
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology ORPHA:2590
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Non-Acquired Panhypopituitarism
Pituitary dwarfism, Ectopic posterior pituitary, Short stature, Hypoglycemia, Decreased response ... ORPHA:90695
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Growth delay, Respiratory failure, Hypothyroidism, Neonatal hypoglycemia ORPHA:445038
Dravet Syndrome
Bradykinesia, Cyanotic episode ORPHA:33069
Hereditary Bullous Dystrophy, Macular Type
Growth delay, Acrocyanosis, Short stature, Pneumonia ORPHA:1867
Odontochondrodysplasia
Respiratory distress, Short stature ORPHA:166272
Familial Hypoaldosteronism
Growth delay, Adrenal insufficiency, Increased circulating renin level, Lethargy, Decreased circu... ORPHA:427
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring, Short stature OMIM:268320
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Lethargy, Pneumothorax OMIM:620306
Hyperparathyroidism, Neonatal Severe
Dyspnea, Tachypnea OMIM:239200
Shashi-Pena Syndrome
Intrauterine growth retardation, Hypoglycemia OMIM:617190
Immunodeficiency 59 And Hypoglycemia
Short stature, Hypoglycemia, Prolonged neonatal jaundice OMIM:233600
Pituitary Apoplexy
Hypoglycemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti... ORPHA:95613
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Telangiectasia OMIM:608799
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Glutaric Acidemia Type 3
Lethargy ORPHA:35706
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmonary arteria... ORPHA:99106
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Glyc... OMIM:220110
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Intrauterine growth retardation, Short stature, Hypothyroidism, Hypoglycemia OMIM:618005
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia OMIM:611126
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Brain-Lung-Thyroid Syndrome
Respiratory distress, Thyroid dysgenesis, Neonatal respiratory distress, Hypoparathyroidism, Shor... ORPHA:209905
Basilicata-Akhtar Syndrome
Precocious puberty, Neonatal hypoglycemia OMIM:301032
Bachmann-Bupp Syndrome
Hypoglycemia OMIM:619075
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Short stature, Hypoglycemia, Jaundice, Growth delay, Recurrent hypoglycemia... OMIM:256810
Ebola Hemorrhagic Fever
Dyspnea, Lethargy, Cough ORPHA:319218
Glycogen Storage Disease Ia
Short stature, Hypoglycemia, Growth delay, Fasting hypoglycemia, Delayed puberty OMIM:232200
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Apathy, Neonatal death, Intrauterine growth retardation, Petechiae, ... OMIM:608013
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Lethargy OMIM:251110
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Short stature, Ketotic hypoglycemia, Postnatal growth retardation, Recurrent hypoglycemia, Fastin... ORPHA:79240
Sting-Associated Vasculopathy, Infantile-Onset
Tachypnea OMIM:615934
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Hypoglycemia, Respiratory insufficiency OMIM:618329
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... OMIM:211530
Biotinidase Deficiency
Respiratory distress, Lethargy, Apnea, Hyperventilation ORPHA:79241
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Apnea, Cardiorespiratory arrest OMIM:608643
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Growth delay, Jaundice, Hypoglycemia OMIM:251880
Rh Deficiency Syndrome
Hypoxemia, Tachypnea ORPHA:71275
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Intrauterine growth retardation, Hypoglycemia OMIM:619355
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... ORPHA:91355
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Precocious p... ORPHA:96182
Pyruvate Carboxylase Deficiency
Hypoglycemia, Tachypnea, Growth delay, Apathy, Hyperglycemia, Abnormal pattern of respiration ORPHA:3008
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia OMIM:617600
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Short stature, Hypoglycemia, Growth delay, Fasting hypoglycemia, Delayed puberty ORPHA:264580
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short stature OMIM:617102
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... ORPHA:300373
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Postnatal growth retardation, Fasting hypoglycemia, Glycosur... OMIM:227810
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy OMIM:237300
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Pituitary gonadotropic cell ade... ORPHA:652
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea OMIM:613834
Aicardi-Goutieres Syndrome 1
Short stature, Diabetes insipidus, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Hypothyro... OMIM:225750
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Short stature, Cutis marmorata, Hypoglycemia, Telangiectasia, Thy... ORPHA:109
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Short stature,... OMIM:616007
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Asthma, Neonatal hypoglycemia ORPHA:457485
Oromandibular Dystonia
Respiratory distress, Depression ORPHA:93958
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation ORPHA:90068
Alobar Holoprosencephaly
Central apnea, Short stature, Decreased response to growth hormone stimulation test, Diabetes ins... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Short stature, Decreased response to growth hormone stimulation test, Diabetes ins... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Short stature, Decreased response to growth hormone stimulation test, Diabetes ins... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Short stature, Decreased response to growth hormone stimulation test, Diabetes ins... ORPHA:220386
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Tachypnea, Pneumonia ORPHA:36234
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Fructose Intolerance, Hereditary
Lethargy, Jaundice, Hypoglycemia, Glycosuria OMIM:229600
Odontochondrodysplasia 1
Respiratory distress, Mesomelic short stature, Short stature OMIM:184260
Leprechaunism
Reduced subcutaneous adipose tissue, Postnatal growth retardation, Insulin resistance, Hyperinsul... ORPHA:508
Glutaric Acidemia I
Hypoglycemia OMIM:231670
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Congenital Generalized Lipodystrophy
Prominent superficial veins, Diabetes mellitus, Precocious puberty in females, Insulin resistance... ORPHA:528
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... ORPHA:293978
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Short stature, Hypogonadotropic hypogonadism, Growth delay, Delayed puberty ORPHA:2326
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Oculocerebrofacial Syndrome, Kaufman Type
Growth delay, Dyspnea, Respiratory failure, Respiratory distress ORPHA:2707
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Lethargy OMIM:251100
X-Linked Dominant Chondrodysplasia Punctata
Severe postnatal growth retardation, Short stature, Neonatal hypoglycemia ORPHA:35173
Myotonic Dystrophy 1
Respiratory distress, Hypogonadism, Testicular atrophy OMIM:160900
Malignant Hyperthermia Of Anesthesia
Tachypnea, Hypercapnia ORPHA:423
Pitt-Hopkins-Like Syndrome 2
Hyperventilation OMIM:614325
Craniofaciofrontodigital Syndrome
Respiratory distress, Prominent superficial veins, Short stature, Dyspnea, Palmoplantar cutis lax... ORPHA:363705
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Hypoketotic hypoglycemia OMIM:610768
Mitochondrial Complex I Deficiency, Nuclear Type 37
Growth delay, Pulmonary arterial hypertension, Respiratory distress OMIM:619272
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Urticaria, Growth delay, Acrocyanosis, Purpura ORPHA:343
Citrullinemia Type Ii
Lethargy, Delayed menarche, Mania ORPHA:247585
Methylmalonic Acidemia With Homocystinuria Type Cblf
Growth delay, Intrauterine growth retardation, Lethargy ORPHA:79284
Ethylene Glycol Poisoning
Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Hypoglycemia, Adrenal hypoplasia, Primary adrenal insuffici... ORPHA:95409
Encephalitis Lethargica
Lethargy, Hyperventilation ORPHA:83600
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Adrenal calcification, Ad... ORPHA:85138
Glycine Encephalopathy
Lethargy, Respiratory acidosis, Breathing dysregulation ORPHA:407
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Abnormal circulating calcium-phosphate regulating hormone concentration, Hy... ORPHA:50810
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea OMIM:618426
Dilated Cardiomyopathy With Ataxia
Growth delay, Intrauterine growth retardation, Hypothyroidism, Neonatal hypoglycemia ORPHA:66634
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death OMIM:300219
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Short stature, Hypogonadotropic hypogonadism, Precocious pu... ORPHA:90794
Leigh Syndrome
Hypoglycemia, Growth delay, Respiratory failure, Intrauterine growth retardation, Abnormal patter... ORPHA:506
Adult-Onset Cervical Dystonia, Dyt23 Type
Hyperventilation ORPHA:420492
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Neonatal hypoglycemia ORPHA:565624
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Moebius Syndrome
Respiratory distress, Hypogonadotropic hypogonadism OMIM:157900
Joubert Syndrome 8
Hyperventilation OMIM:612291
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Alstrom Syndrome
Short stature, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonad... OMIM:203800
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Lambert-Eaton Myasthenic Syndrome
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction ORPHA:43393
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Neonatal short-limb short stature, Rhizomelia OMIM:151210
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency ORPHA:367
Acute Liver Failure
Hypoglycemia, Jaundice, Abnormal respiratory system physiology, Depression, Adrenal insufficiency... ORPHA:90062
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Compensated hypothyroidism, Hypoglycemia, Hypoglycemic seizures ORPHA:480864
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis ORPHA:896
Kabuki Syndrome 2
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Neonatal hypoglycemia OMIM:300867
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Nonproductive cough, Dyspnea, Recurrent pneumonia, Bronchiectasis, Growth de... ORPHA:980
Pearson Marrow-Pancreas Syndrome
Type I diabetes mellitus, Lethargy, Erythema OMIM:557000
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Hyperventilation ORPHA:98784
Diaphanospondylodysostosis
Respiratory distress, Disproportionate short-trunk short stature, Respiratory insufficiency, Trac... OMIM:608022
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Lethargy, Erythema OMIM:618321
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Apnea ORPHA:395
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Hypoglycemia, Premature thelarche, Premature pubarche OMIM:616878
Posterior Urethral Valve
Postnatal growth retardation, Lethargy ORPHA:93110
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Radio-Renal Syndrome
Respiratory distress, Severe short stature, Dyspnea, Respiratory failure, Chylothorax, Pleural ef... ORPHA:3015
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy, Short stature OMIM:277380
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Short stature OMIM:606164
Childhood Absence Epilepsy
Hyperventilation ORPHA:64280
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Postnatal growth retardation, In... OMIM:248370
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Lethargy OMIM:607483
Sotos Syndrome
Glucose intolerance, Neonatal hypoglycemia, Prolonged neonatal jaundice OMIM:117550
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Growth delay, Apnea, Hypoglycemia, Respiratory distress ORPHA:17
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Kniest Dysplasia
Respiratory distress, Rhizomelia, Tracheomalacia, Disproportionate short-trunk short stature OMIM:156550
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia ORPHA:228305
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency due to muscle weakness, Jaundice, Respiratory ins... OMIM:615512
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Cough, Acrocyanosis, Pu... ORPHA:183
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Short stature, Hypoglycemia, Epistaxis, Thyroiditis, Hypoglycemic seizures, Growth delay, Pulmona... ORPHA:79259
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... ORPHA:289548
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Hyperthyroidism, Pneumonia, Abnormality of the endocrine system, Thyroiditi... ORPHA:37042
Rajab Interstitial Lung Disease With Brain Calcifications 1
Short stature, Hypoglycemia, Tachypnea, Respiratory insufficiency, Growth delay, Respiratory fail... OMIM:613658
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Shigellosis
Urticaria, Hypoglycemia, Pneumonia, Purpura ORPHA:810
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Growth delay, Hypoglycemia, Neonatal hypoglycemia, Prolonged neonatal jaundice OMIM:619418
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating luteinizing hormon... ORPHA:168558
Glycogen Storage Disease Ic
Pulmonary arterial hypertension, Hypoglycemia, Spider hemangioma, Delayed puberty OMIM:232240
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor ORPHA:100050
Hydranencephaly
Postnatal growth retardation, Intrauterine growth retardation, Lethargy, Atrophic pituitary gland ORPHA:2177
Rett Syndrome
Apnea, Intermittent hyperventilation OMIM:312750
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrauterine growth retardation, Jaundice, Lethargy OMIM:614866
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress OMIM:619383
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:610188
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:205100
Pitt-Hopkins-Like Syndrome 1
Hyperventilation OMIM:610042
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Glycogen Storage Disease Ib
Short stature, Hypoglycemia, Delayed puberty OMIM:232220
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Tachypnea, Respiratory insufficiency OMIM:618278
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia OMIM:202650
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy OMIM:277410
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia OMIM:620224
Combined Pituitary Hormone Deficiencies, Genetic Forms
Pituitary dwarfism, Ectopic posterior pituitary, Hypoglycemia, Decreased response to growth hormo... ORPHA:95494
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Depression, Recurrent hypoglycemia, Neonatal death, Hyperglycemia OMIM:124000
Marburg Hemorrhagic Fever
Hypoglycemia, Nonproductive cough, Jaundice, Lethargy, Bruising susceptibility, Petechiae ORPHA:99826
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea ORPHA:2754
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Progeroid facial appea... ORPHA:79086
Chromosome 6Q24-Q25 Deletion Syndrome
Growth delay, Intrauterine growth retardation, Respiratory distress OMIM:612863
Paroxysmal Nocturnal Hemoglobinuria
Pulmonary embolism, Dyspnea, Jaundice, Glycosuria, Lethargy ORPHA:447
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Meckel Syndrome 14
Pneumothorax, Cyanosis, Cardiorespiratory arrest OMIM:619879
Gitelman Syndrome
Respiratory distress, Maternal diabetes, Insulin resistance, Parathyroid adenoma, Glucose intoler... ORPHA:358
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Prominent superficial veins, Insulin-resistant diabetes mell... OMIM:151660
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension, Congenital hypothyroidism ORPHA:2519
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia ORPHA:99901
Wars2-Related Combined Oxidative Phosphorylation Defect
Intrauterine growth retardation, Neonatal hypoglycemia ORPHA:572798
Double Outlet Left Ventricle
Tachypnea ORPHA:3427
Deeah Syndrome
Neonatal respiratory distress, Short stature, Decreased response to growth hormone stimulation te... OMIM:619004
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea, Inappropriate antidiuretic hormone secretion, Hypot... ORPHA:79330
Prader-Willi Syndrome
Hypoventilation, Short stature, Hypogonadotropic hypogonadism, Decreased response to growth hormo... OMIM:176270
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress ORPHA:329178
Carnitine Palmitoyltransferase Ii Deficiency
Neonatal respiratory distress, Hypoketotic hypoglycemia ORPHA:157
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoglycemia OMIM:614501
Goodpasture Syndrome
Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional dyspnea OMIM:233450
Tarp Syndrome
Intrauterine growth retardation, Cyanosis, Apnea ORPHA:2886
Menkes Disease
Spontaneous hematomas, Intrauterine growth retardation, Hypoglycemia, Prolonged neonatal jaundice ORPHA:565
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Short stature OMIM:610536
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... ORPHA:97214
Transcobalamin Ii Deficiency
Lethargy OMIM:275350
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Recurrent pneumonia, Recurrent hypoglycemia, Chroni... ORPHA:79324
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Female hypogonadism, Decreased serum leptin, Insul... ORPHA:740
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea ORPHA:415
Osteogenesis Imperfecta, Type X
Respiratory distress, Rhizomelia, Short stature, Recurrent pneumonia, Chronic lung disease OMIM:613848
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Respiratory insuffic... ORPHA:536467
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores... ORPHA:3342
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... OMIM:187300
Holoprosencephaly
Diabetes mellitus, Hypoglycemia, Panhypopituitarism, Respiratory insufficiency, Anterior hypopitu... ORPHA:2162
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Spinocerebellar trac... ORPHA:276244
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Ecchymosis, Purpura ORPHA:319213
Exercise-Induced Malignant Hyperthermia
Crackles, Tachypnea, Hypocapnia, Lethargy, Flushing ORPHA:466650
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hyperventilation OMIM:618775
Farber Disease
Respiratory distress, Short stature, Respiratory insufficiency ORPHA:333
Fucosidosis
Hypothyroidism, Acrocyanosis, Vascular skin abnormality ORPHA:349
Achondroplasia
Respiratory distress, Neonatal short-limb short stature, Rhizomelia, Upper airway obstruction OMIM:100800
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy OMIM:201470
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea ORPHA:2299
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect, Neonatal short-trunk short stature OMIM:183900
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Short stature, Abnormality of thyroid physiology OMIM:300968
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Pitt-Hopkins Syndrome
Postnatal growth retardation, Growth delay, Acrocyanosis, Abnormal pattern of respiration, Hyperv... ORPHA:2896
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Amoebiasis Due To Free-Living Amoebae
Lethargy, Sinusitis, Pneumonia, Abnormality of the adrenal glands ORPHA:68
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Postnatal growth retardation, ... OMIM:620305
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Growth delay, Decreased sensitivity to hypoxemia, Acrocyanosis OMIM:223900
Diamond-Blackfan Anemia 10
Growth delay, Short stature, Respiratory distress OMIM:613309
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Trichinellosis
Lethargy, Apathy ORPHA:863
Japanese Encephalitis
Respiratory distress, Respiratory paralysis, Inappropriate antidiuretic hormone secretion, Abnorm... ORPHA:79139
Medulloblastoma
Lethargy ORPHA:616
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent pneumonia OMIM:617303
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Developmental And Epileptic Encephalopathy 2
Hyperventilation OMIM:300672
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Neonatal respiratory distress, Hypoketotic hypoglycemia ORPHA:228308
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy OMIM:277400
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Tyrosinemia, Type I
Growth delay, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:276700
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cutis marmorata, Pulmonary embolism, Dyspnea, Angioedema, Asthma, Urticaria... ORPHA:3260
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Perlman Syndrome
Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:267000
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Th... ORPHA:31204
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Recurrent pneumonia, Hyperinsulinemia OMIM:613327
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Hypoglycemia OMIM:301066
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax OMIM:617300
Citrullinemia, Classic
Lethargy OMIM:215700
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Short stature OMIM:260400
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Short stature, Decreased response to growth hormone stimulation test, Hypog... ORPHA:177907
Atelis Syndrome 2
Dyspnea, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Alternating Hemiplegia Of Childhood
Respiratory distress, Aspiration, Apnea, Flushing ORPHA:2131
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Tuberous Sclerosis Complex
Respiratory distress, Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Dep... ORPHA:805
Scorpion Envenomation
Abnormal nasal mucus secretion, Tachypnea ORPHA:466677
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis ORPHA:268943
Q Fever
Respiratory distress, Pneumonia, Cough, Pleural effusion, Purpura ORPHA:781
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation ORPHA:255210
Costello Syndrome
Short stature, Hypoglycemia, Pneumothorax, Respiratory insufficiency, Respiratory failure, Trache... OMIM:218040
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Lethargy OMIM:311250
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Primary Fanconi Renotubular Syndrome
Growth delay, Hypoglycemia, Glycosuria ORPHA:3337
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... ORPHA:340
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress ORPHA:1555
Holoprosencephaly 1
Short stature, Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia OMIM:236100
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Atypical Werner Syndrome
Prominent superficial veins, Diabetes mellitus, Telangiectasia of the skin, Prematurely aged appe... ORPHA:79474
Toxic Epidermal Necrolysis
Respiratory distress, Restrictive ventilatory defect, Erythema, Cough ORPHA:537
Ulbright-Hodes Syndrome
Respiratory distress, Maternal diabetes, Postnatal growth retardation, Pneumothorax, Birth length... ORPHA:3404
Aicardi-Goutières Syndrome
Diabetes mellitus, Cutis marmorata, Short stature, Prolonged neonatal jaundice, Acrocyanosis, Hyp... ORPHA:51
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Ear-Patella-Short Stature Syndrome
Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Intrauter... ORPHA:2554
Beare-Stevenson Cutis Gyrata Syndrome
Palmoplantar cutis laxa, Respiratory distress OMIM:123790
Argininosuccinic Aciduria
Lethargy OMIM:207900
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress OMIM:612852
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Petechiae, Purpura ORPHA:2330
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Respiratory failure, Chylothorax OMIM:620278
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion ORPHA:1546
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Pulmonary arterial hypertension, Stridor, Airway obstruction ORPHA:505248
Mgat2-Cdg
Respiratory distress, Abnormality of the endocrine system ORPHA:79329
Ramos-Arroyo Syndrome
Respiratory distress, Severe short stature ORPHA:1051
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Growth delay, Stridor, Respiratory failur... ORPHA:79404
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... ORPHA:365
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Hyperparathyroidism OMIM:618188
Intellectual Developmental Disorder, Autosomal Dominant 54
Apnea, Hyperventilation OMIM:617799
Cntnap2-Related Developmental And Epileptic Encephalopathy
Intermittent hyperventilation ORPHA:163681
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Stüve-Wiedemann Syndrome
Respiratory distress, Short stature, Apnea, Asthma, Ectopic thyroid, Intrauterine growth retardat... ORPHA:3206
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion OMIM:620369
Kufor-Rakeb Syndrome
Bradykinesia, Lethargy, Apathy ORPHA:306674
Lysinuric Protein Intolerance
Lethargy, Decreased response to growth hormone stimulation test, Respiratory insufficiency ORPHA:470
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Hyperventilation ORPHA:522077
Diamond-Blackfan Anemia
Growth delay, Lethargy, Short stature ORPHA:124
Meier-Gorlin Syndrome 1
Birth length less than 3rd percentile, Intrauterine growth retardation, Emphysema, Respiratory di... OMIM:224690
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Neonatal insulin-dependent diabetes mellitus, Congenital hypothyroidism, In... ORPHA:2255
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles OMIM:305100
Adnp Syndrome
Respiratory distress, Aspiration, Short stature ORPHA:404448
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Diabetes mellitus, Hypergonadotropic hypogona... ORPHA:273
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis OMIM:617478
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Disproportionate short-limb ... OMIM:114290
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Diabetes mellitus, Decreased serum leptin, Hyperinsulinemia,... OMIM:608594
Familial Dysautonomia
Growth delay, Acrocyanosis ORPHA:1764
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Intellectual Developmental Disorder, Autosomal Dominant 57
Hyperventilation OMIM:618050
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis OMIM:306955
Truncus Arteriosus
Cyanosis, Tachypnea, Hypoplasia of the thymus, Intrauterine growth retardation, Adrenocortical ab... ORPHA:3384
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension ORPHA:210122
Osteoglophonic Dysplasia
Growth delay, Severe short stature, Rhizomelia, Respiratory distress OMIM:166250
Coccidioidomycosis
Respiratory distress, Pneumonia, Abnormality of the endocrine system, Pleural empyema, Cough, Exu... ORPHA:228123
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Tachypnea, Hypoglycemia OMIM:220111
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Severe short stature, Dyspnea, Erythema, Growth delay, Respiratory failure ORPHA:2556
Listeriosis
Respiratory distress, Jaundice, Pneumonia, Respiratory failure ORPHA:533
Simpson-Golabi-Behmel Syndrome
Hypoglycemia, Pancreatic islet-cell hyperplasia ORPHA:373
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Intermittent hyperventilation OMIM:300749
Cleidocranial Dysplasia 1
Respiratory distress, Moderately short stature, Short stature, Neonatal respiratory distress OMIM:119600
Scimitar Syndrome
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough ORPHA:185
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Growth delay, Intrauterine growth retardatio... OMIM:616268
Beckwith-Wiedemann Syndrome
Adrenocortical cytomegaly, Hypoglycemia, Adrenocortical carcinoma, Pseudohypoparathyroidism, Hypo... ORPHA:116
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Decreased serum leptin, Hyperinsulinemia, Insulin-resistant ... OMIM:269700
Dermatomyositis
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial... ORPHA:221
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Depression, ... ORPHA:95455
Pitt-Hopkins Syndrome
Intermittent hyperventilation OMIM:610954
Rubinstein-Taybi Syndrome 1
Respiratory distress, Short stature, Premature thelarche, Postnatal growth retardation, Growth delay OMIM:180849
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... ORPHA:99125
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Fragile skin OMIM:614748
Pineoblastoma
Lethargy ORPHA:251909
Turner Syndrome Due To Structural X Chromosome Anomalies
Short stature, High urinary gonadotropin level, Postnatal growth retardation, Increased circulati... ORPHA:99413
Mosaic Monosomy X
Short stature, High urinary gonadotropin level, Postnatal growth retardation, Increased circulati... ORPHA:99228
Monosomy X
Short stature, High urinary gonadotropin level, Postnatal growth retardation, Increased circulati... ORPHA:99226
Turner Syndrome
Short stature, High urinary gonadotropin level, Postnatal growth retardation, Increased circulati... ORPHA:881
Congenital Disorder Of Deglycosylation 1
Respiratory distress OMIM:615273
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Neonatal hypoglycemia ORPHA:457359
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology OMIM:614298
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Respiratory distress ORPHA:83617
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis ORPHA:48435
Isolated Arrhinia
Respiratory distress ORPHA:1134
Beckwith-Wiedemann Syndrome
Adrenocortical carcinoma, Adrenocortical cytomegaly, Neonatal hypoglycemia OMIM:130650
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Schinzel-Giedion Syndrome
Respiratory distress, Streak ovary, Recurrent pneumonia, Central hypothyroidism ORPHA:798
8Q24.3 Microdeletion Syndrome
Respiratory distress, Infancy onset short-trunk short stature, Ectopic posterior pituitary, Short... ORPHA:508488
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring ORPHA:466943
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension, Cyanosis, Adrenal calcification ORPHA:51608
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Leptospirosis
Respiratory distress, Pleural effusion, Jaundice, Cough ORPHA:509
Alström Syndrome
Respiratory distress, Dorsocervical fat pad, Short stature, Decreased response to growth hormone ... ORPHA:64
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Short stature OMIM:617088
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Abnormal circulating thyroid hormone concentration, Short stature, Delayed ... ORPHA:480880
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... ORPHA:287
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea, Depression ORPHA:285
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Aspiration pneumonia, Congenital hypothyroidism ORPHA:79500
Plague
Respiratory distress, Acute infectious pneumonia, Depression ORPHA:707
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata, Short stature OMIM:303600
Pmm2-Cdg
Respiratory distress, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentr... ORPHA:79318
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Sotos Syndrome
Neonatal hypoglycemia, Prolonged neonatal jaundice, Hypothyroidism, Pulmonary bleb, Flushing ORPHA:821
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Short stature, Recurrent pneumonia, Growth delay, Intrauterine growth retar... ORPHA:99646
Pallister-Killian Syndrome
Apneic episodes in infancy, Hyperventilation OMIM:601803
Congenital Fibrosis Of Extraocular Muscles
Optic nerve hypoplasia ORPHA:45358
Fibrosis Of Extraocular Muscles, Congenital, 2
OMIM:602078

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 Phox2a

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 Phox2a.

No publications found that use IMPC mice or data for Phox2a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Phox2atm278551(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Phox2atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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