Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Inppl1 MGI:1333787

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

inositol polyphosphate phosphatase-like 1

Synonyms:

SHIP2

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 Inppl1 mutations

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

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

Human diseases associated with Inppl1 (3 diseases)
Human diseases predicted to be associated with Inppl1 (1271 diseases)

The table below shows human diseases associated to Inppl1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Opsismodysplasia	Short nose, Depressed nasal bridge	ORPHA:2746
Opsismodysplasia	Depressed nasal bridge, Anteverted nares, Short nose, Hypophosphatemia	OMIM:258480
Schneckenbecken Dysplasia	Disproportionate short-limb short stature	ORPHA:3144

The table below shows human diseases predicted to be associated to Inppl1 by phenotypic similarity.

Disease	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
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
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
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
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
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Short stature, Hypoglycemia	ORPHA:366
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,...	ORPHA:276608
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
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Anosmia, Obesity, Increased serum leptin,...	OMIM:617885
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
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr...	OMIM:619855
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
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp...	ORPHA:140896
Glycogen Storage Disease Vi	Postnatal growth retardation, Hypoglycemia	OMIM:232700
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
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho...	OMIM:246700
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
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
Hypoadrenocorticism, Familial	Cyanosis, Hypoglycemia, Apnea, Adrenal hypoplasia, Adrenal insufficiency	OMIM:240200
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
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
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
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
Diabetes Insipidus, Neurohypophyseal	Wide nose, Decreased circulating osteocalcin level, Central diabetes insipidus, Short nose	OMIM:125700
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Postnatal growth retardation, Hypoglycemia	OMIM:616111
Perching Syndrome	Respiratory distress, Cyanosis	OMIM:617055
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
17Q21.31 Microduplication Syndrome	Short nose, Failure to thrive, Anteverted nares, Delayed puberty	ORPHA:217340
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
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
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
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
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
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
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
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
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Depressed nasal ridge, Steatorrhea, Failure to ...	OMIM:266510
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
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough	OMIM:263000
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
Potocki-Lupski Syndrome	Small for gestational age, Hypocholesterolemia, Prominent nasal tip, Failure to thrive, Hypothyro...	OMIM:610883
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy...	OMIM:600955
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
Hypothyroidism, Congenital, Nongoitrous, 8	Decreased circulating free T4 concentration, Hypercholesterolemia, Inappropriately normal thyroid...	OMIM:301033
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
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:606762
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	OMIM:615703
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
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
Endocardial Fibroelastosis	Anterior hypopituitarism, Hypoglycemia	ORPHA:2022
Intellectual Developmental Disorder, X-Linked 91	Short nose, Obesity	OMIM:300577
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
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia	OMIM:610539
Rhiny	Short nose, Anteverted nares	OMIM:180360
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency, Fasting hypoglycemia, Lethargy, Hypok...	ORPHA:159
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoacidosis,...	OMIM:615238
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
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
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Glycosuria, Lethargy, ...	ORPHA:263455
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Polyendocrine-Polyneuropathy Syndrome	Short stature, Anterior pituitary hypoplasia, Hypoglycemia, Hypogonadotropic hypogonadism, Postna...	OMIM:616113
Squalene Synthase Deficiency	Depressed nasal bridge, Failure to thrive in infancy, Increased circulating farnesol concentratio...	OMIM:618156
Leptin Deficiency Or Dysfunction	Recurrent upper respiratory tract infections, Hypogonadism, Obesity, Decreased serum leptin	OMIM:614962
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
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
Post-Traumatic Pituitary Deficiency	Hypoglycemia, Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadis...	ORPHA:95619
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
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
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares	ORPHA:2015
Hereditary Central Diabetes Insipidus	Growth delay, Lethargy, Diabetes insipidus	ORPHA:30925
Homocystinuria Without Methylmalonic Aciduria	Lethargy	ORPHA:622
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy	OMIM:618683
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares	ORPHA:1355
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
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
2P21 Microdeletion Syndrome	Growth delay, Hypogonadism, Hypoglycemia	ORPHA:163693
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration	ORPHA:2004
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Failure to thrive in infancy, Obesity, Broad nasal tip	OMIM:613670
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose, Small for gestational age	OMIM:245570
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
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose, Failure to thrive	OMIM:618379
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
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea, Maternal diabetes	ORPHA:45452
Methylmalonic Acidemia With Homocystinuria	Lethargy	ORPHA:26
Glucocorticoid Resistance, Generalized	Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s...	OMIM:615962
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
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
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Chylomicron Retention Disease	Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia, Respiratory insufficiency	OMIM:618241
Propionic Acidemia	Hypoglycemia	ORPHA:35
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy...	ORPHA:264675
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Decreased thyroid-stimulating hormone level, Hypopituitarism, Depressed nasal bridge, Anteverted ...	OMIM:613038
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
Burn-Mckeown Syndrome	Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia	ORPHA:1200
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
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia, Steatorrhea	OMIM:607765
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
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
Akt2-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Decreased adiponectin level, Decreased...	ORPHA:79085
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
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr...	ORPHA:2257
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
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red...	OMIM:610913
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Carnitine-Acylcarnitine Translocase Deficiency	Cardiorespiratory arrest, Lethargy, Hypoglycemia, Neonatal hypoglycemia	OMIM:212138
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
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory failure, Neonatal...	OMIM:265120
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
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
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Ring Chromosome 8 Syndrome	Short nose, Anteverted nares	ORPHA:1450
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Short stature, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism, Del...	ORPHA:95496
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
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Maxillonasal Dysplasia, Binder Type	Short nose, Short columella, Depressed nasal bridge	OMIM:155050
Ornithine Transcarbamylase Deficiency	Hypoglycemia	ORPHA:664
Developmental And Epileptic Encephalopathy 30	Respiratory distress	OMIM:616341
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
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares	ORPHA:46
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
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Anteverted nares, Wide nasal bridge, Hypocholesterolemia	OMIM:618810
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Decreased response to growth hormone stimula...	OMIM:610978
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
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
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
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
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Tachypnea, Respiratory insufficiency, Respiratory failure, Lethargy	OMIM:614299
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
Thyroid Lymphoma	Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Stridor, Hypothyroidism...	ORPHA:97285
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
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
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
Cidec-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Decreased adiponectin level, Decreased...	ORPHA:435651
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester...	ORPHA:96180
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
Non-Distal Duplication 10Q	Short nose, Depressed nasal bridge, Convex nasal ridge	ORPHA:1695
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
Acute Interstitial Pneumonia	Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato...	ORPHA:79126
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
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Diabetes mellitus, Decreased serum iron, Broad nasal tip, Overweight, Recurrent upper respiratory...	ORPHA:391372
Cholera	Hypoglycemia, Tachypnea, Aspiration pneumonia, Palmoplantar cutis laxa, Lethargy, Hyperventilation	ORPHA:173
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose, Obesity	OMIM:611936
Clark-Baraitser Syndrome	Depressed nasal bridge, Anteverted nares, Obesity, Short nose, Low hanging columella	OMIM:617752
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
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
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity, Short nose	ORPHA:2429
Pyruvate Carboxylase Deficiency	Hypoglycemia	OMIM:266150
Hemochromatosis, Type 2A	Lethargy, Hypogonadotropic hypogonadism	OMIM:602390
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Decreased adiponectin l...	ORPHA:435660
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia, Postnatal growth retardation, Asthma, Intrauterine growth retardation, Hypothyroidism	ORPHA:397590
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
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Donohue Syndrome	Postnatal growth retardation, Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperpl...	OMIM:246200
Pierpont Syndrome	Wide nose, Broad nasal tip, Decreased body weight, Short nose, Failure to thrive	OMIM:602342
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
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Depressed nasal bridge	ORPHA:438178
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
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
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
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Chronic cough, Pulmonary arterial hypertensi...	OMIM:620233
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Shor...	ORPHA:1248
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
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
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Idiopathic Intracranial Hypertension	Lethargy, Depression	ORPHA:238624
Central Neurocytoma	Lethargy, Depression	ORPHA:73256
14Q11.2 Microdeletion Syndrome	Short nose, Depressed nasal bridge	ORPHA:261120
Potocki-Shaffer Syndrome	Short nose, Wide nasal bridge, Underdeveloped nasal alae	OMIM:601224
Muscular Dystrophy, Congenital, With Or Without Seizures	Type I diabetes mellitus, Respiratory failure, Respiratory distress	OMIM:620166
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Neonatal respiratory distress, Hypoglycemia, Apnea, Respiratory insuffic...	OMIM:608836
Craniofacial-Deafness-Hand Syndrome	Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Short nose	ORPHA:1529
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
Smith-Magenis Syndrome	Hypertriglyceridemia, Depressed nasal bridge, Anteverted nares, Failure to thrive in infancy, Pre...	ORPHA:819
Congenital Heart Block	Intrauterine growth retardation, Pleural effusion, Cyanosis, Crackles	ORPHA:60041
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p...	ORPHA:1329
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum	OMIM:302950
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
Citrullinemia Type I	Lethargy, Tachypnea	ORPHA:247525
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
Acrodysostosis 2 With Or Without Hormone Resistance	Diabetes mellitus, Depressed nasal bridge, Anteverted nares, Obesity, Congenital hypothyroidism, ...	OMIM:614613
Chung-Jansen Syndrome	Short nose, Anteverted nares, Obesity	OMIM:617991
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
Acrocephalopolydactyly	Short nose, Depressed nasal ridge	ORPHA:221054
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose, Cachexia	ORPHA:1389
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Glycosuria, Diabetes mellitus, Short stature, Hypoglycemia	OMIM:616026
Perlman Syndrome	Short nose, Hyperinsulinemia, Anteverted nares, Wide nasal bridge	ORPHA:2849
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
Peho-Like Syndrome	Short nose	OMIM:617507
Congenital Disorder Of Glycosylation, Type Ia	Hypergonadotropic hypogonadism, Depressed nasal bridge, Hypoalbuminemia, Steatorrhea, Hypocholest...	OMIM:212065
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
Timothy Syndrome	Hypothyroidism, Pulmonary arterial hypertension, Hypoglycemia, Pneumonia	OMIM:601005
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
Alg12-Cdg	Hyponatremia, Wide nose, Decreased serum insulin-like growth factor 1, Prominent nasal bridge, Re...	ORPHA:79324
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Apathy, Hypoglycemia	OMIM:246450
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lethargy, Respiratory failure, Tachypnea	OMIM:615838
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hypoketotic hypoglycemia	ORPHA:5
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis	ORPHA:444013
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia	ORPHA:79096
Slc35A1-Cdg	Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage	ORPHA:238459
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares, Obesity	OMIM:619854
Congenital Tracheomalacia	Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co...	ORPHA:95430
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, Delayed puberty	ORPHA:2598
Baker-Gordon Syndrome	Prominent nasal tip, Short nose	OMIM:618218
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia	OMIM:614739
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short nose	ORPHA:2370
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Kaufman Oculocerebrofacial Syndrome	Depressed nasal bridge, Anteverted nares, Hypocholesterolemia, Short nose, Failure to thrive	OMIM:244450
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
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
17P13.3 Microduplication Syndrome	Wide nose, Short nose	ORPHA:217385
Acromicric Dysplasia	Bulbous nose, Anteverted nares, Short nose	ORPHA:969
Edinburgh Malformation Syndrome	Short nose, Failure to thrive, Anteverted nares, Choanal atresia	ORPHA:1895
Congenital Diaphragmatic Hernia	Hypoxemia, Respiratory distress	ORPHA:2140
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy, Hypoglycemia	OMIM:210210
Combined Oxidative Phosphorylation Deficiency 25	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose, Failure to thrive, Reduc...	OMIM:616430
Beta-Ketothiolase Deficiency	Hypoglycemia, Tachypnea, Apathy, Cough, Hyperglycemia	ORPHA:134
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Anteverted nares, Obesity, Short columella, Short nose	ORPHA:171839
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Growth delay, Hyperglycemia, Hypoglycemia	OMIM:615453
Avian Influenza	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:454836
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
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Short nose, Anteverted nares	OMIM:618506
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
Miller-Dieker Syndrome	Short nose, Anteverted nares	ORPHA:531
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
Pterygium Colli, Isolated	Short nose	OMIM:177990
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
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Depressed nasal bridge, Hypercalcemia, Decreased response to growth hormone stimulation test, Adr...	OMIM:614732
Melanocytic Nevus Syndrome, Congenital	Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip	OMIM:137550
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Absence of pubertal develo...	ORPHA:398079
Glutamine Deficiency, Congenital	Hypoglutaminemia, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Hyperammonemia, Sh...	OMIM:610015
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose, Small for gestational age	ORPHA:289266
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri...	ORPHA:2038
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
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
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati...	ORPHA:14
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
Developmental And Epileptic Encephalopathy 41	Lethargy	OMIM:617105
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
Macrocephaly-Intellectual Disability-Autism Syndrome	Hurthle cell thyroid adenoma, Short nose, Depressed nasal bridge, Thyroid carcinoma	ORPHA:210548
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
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
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
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Short nose, Anteverted nares, Wide nasal bridge	OMIM:618577
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
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Short nose, Depressed nasal bridge	OMIM:616910
Isovaleric Acidemia	Lethargy	OMIM:243500
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Intrauterine growth retardation	OMIM:615597
Periventricular Nodular Heterotopia 7	Short nose, Failure to thrive, Anteverted nares	OMIM:617201
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
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Neonatal death, Intrauterine growth retardation, Hypoglycemia, Neonatal hypoglycemia	OMIM:619055
Leukodystrophy, Hypomyelinating, 10	Bulbous nose, Failure to thrive, Anteverted nares, Short nose	OMIM:616420
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
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Bulbous nose, Anteverted nares, Wide nasal bridge, Short nose	OMIM:613604
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
Verheij Syndrome	Small for gestational age, Anteverted nares, Broad nasal tip, Wide nasal bridge, Short nose	OMIM:615583
Intellectual Developmental Disorder, X-Linked 30	Short nose, Anteverted nares, Prominent nasal bridge	OMIM:300558
Double Outlet Right Ventricle	Hypoparathyroidism, Cyanosis, Short stature, Tachypnea, Aplasia/Hypoplasia of the thymus	ORPHA:3426
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:613443
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short nose	ORPHA:1495
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f...	ORPHA:555874
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
Chromosome 6Q11-Q14 Deletion Syndrome	Short nose, Prominent nasal bridge, Broad nasal tip	OMIM:613544
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
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
Holocarboxylase Synthetase Deficiency	Lethargy, Tachypnea, Hyperventilation	OMIM:253270
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
Cebalid Syndrome	Anteverted nares, Short nose, Depressed nasal ridge, Depressed nasal bridge	OMIM:618774
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Anteverted nares, Choanal atresia, Short nose	ORPHA:1914
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
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Intrauterine growth retardation	ORPHA:89844
Tetrasomy 12P	Short nose, Anteverted nares, Cachexia	ORPHA:884
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Neonatal hypoglycemia	OMIM:619046
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Small for gestational age, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:613320
Microlissencephaly-Micromelia Syndrome	Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Shor...	ORPHA:50810
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bulbous nose, Wide nasal bridge, Short nose	OMIM:620292
Congenital Disorder Of Glycosylation, Type Il	Short nose, Failure to thrive, Depressed nasal bridge	OMIM:608776
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
Pulmonary Alveolar Microlithiasis	Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:60025
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Short nose	OMIM:614069
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
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Wide nasal bridge, Broad nasal tip	OMIM:615716
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Short nose	OMIM:615419
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
Trigonocephaly 1	Short nose, Wide nasal bridge	OMIM:190440
Shashi-Pena Syndrome	Intrauterine growth retardation, Hypoglycemia	OMIM:617190
Immunodeficiency 59 And Hypoglycemia	Short stature, Hypoglycemia, Prolonged neonatal jaundice	OMIM:233600
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Depressed nasal bridge, Anteverted nares, Bulbous nose, Short nose	OMIM:614105
Pituitary Apoplexy	Hypoglycemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti...	ORPHA:95613
Aarskog-Scott Syndrome	Decreased serum testosterone concentration, Anteverted nares, Elevated circulating luteinizing ho...	OMIM:305400
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Telangiectasia	OMIM:608799
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis	ORPHA:439
Distal Duplication 18Q	Short nose, Prominent nasal bridge, Anteverted nares, Choanal atresia	ORPHA:1716
Glutaric Acidemia Type 3	Lethargy	ORPHA:35706
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Glyc...	OMIM:220110
9q subtelomeric deletion syndrome	Short nose, Anteverted nares	DECIPHER:52
Microcephaly-Capillary Malformation Syndrome	Wide nose, Failure to thrive, Small for gestational age, Short nose	OMIM:614261
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Intrauterine growth retardation, Short stature, Hypothyroidism, Hypoglycemia	OMIM:618005
Teebi Hypertelorism Syndrome 2	Short nose, Depressed nasal bridge, Broad nasal tip	OMIM:619736
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:618961
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Precocious puberty, Short nose, Anteverted nares	OMIM:619356
Chiari Malformation Type Ii	Cyanosis, Inspiratory stridor	OMIM:207950
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Short nose	ORPHA:1514
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia	OMIM:611126
Rhizomelic Dysplasia, Patterson-Lowry Type	Wide nose, Depressed nasal ridge, Short nose	ORPHA:2831
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
Intellectual Disability-Strabismus Syndrome	Decreased serum insulin-like growth factor 1, Depressed nasal bridge, Decreased response to growt...	ORPHA:363528
Ebola Hemorrhagic Fever	Dyspnea, Lethargy, Cough	ORPHA:319218
Glycogen Storage Disease Ia	Short stature, Hypoglycemia, Growth delay, Fasting hypoglycemia, Delayed puberty	OMIM:232200
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Decreased adipo...	ORPHA:280365
Even-Plus Syndrome	Bifid nasal tip, Short nose, Depressed nasal ridge	OMIM:616854
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Bulbous nose, Depressed nasal bridge, Obesity, Short nose	OMIM:618430
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
Nabais Sa-De Vries Syndrome, Type 1	Bulbous nose, Depressed nasal bridge, Prominent nasal bridge, Short nose	OMIM:618828
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Lethargy	OMIM:251110
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Failure to thrive, Anteverted nares, Short nose	OMIM:242860
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Short stature, Ketotic hypoglycemia, Postnatal growth retardation, Recurrent hypoglycemia, Fastin...	ORPHA:79240
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:614744
Biotinidase Deficiency	Lethargy, Tachypnea, Apnea	OMIM:253260
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia, Delayed puberty, Short nose, Convex nasal ridge	ORPHA:90154
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Hypoglycemia, Respiratory insufficiency	OMIM:618329
Johanson-Blizzard Syndrome	Diabetes mellitus, Underdeveloped nasal alae, Abnormal nostril morphology, Short nose, Failure to...	ORPHA:2315
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in...	OMIM:211530
Achondrogenesis	Short nose, Anteverted nares	ORPHA:932
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Prominent nose, Obesity, Elevated circulating parathyroid hormone level, ...	ORPHA:439822
Baraitser-Winter Syndrome 1	Short nose, Failure to thrive, Anteverted nares, Wide nasal bridge	OMIM:243310
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Dimple on nasal ...	ORPHA:1791
Biotinidase Deficiency	Respiratory distress, Lethargy, Apnea, Hyperventilation	ORPHA:79241
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Short nose, Failure to thrive	ORPHA:544503
Aromatic L-Amino Acid Decarboxylase Deficiency	Lethargy, Apnea, Cardiorespiratory arrest	OMIM:608643
Dubowitz Syndrome	Prominent nasal bridge, Hypocholesterolemia, Wide nasal bridge, Broad nasal tip	OMIM:223370
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Growth delay, Jaundice, Hypoglycemia	OMIM:251880
5Q14.3 Microdeletion Syndrome	Short nose, Anteverted nares	ORPHA:228384
Developmental And Epileptic Encephalopathy 75	Short nose, Anteverted nares, Wide nasal bridge	OMIM:618437
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
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Short nose, Failure to thrive, Depressed nasal bridge, Broad columella	OMIM:617865
16P12.1P12.3 Triplication Syndrome	Bulbous nose, Failure to thrive, Decreased response to growth hormone stimulation test, Short nose	ORPHA:485405
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
Dermotrichic Syndrome	Short nose, Depressed nasal bridge	ORPHA:99688
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
Congenital Fibrinogen Deficiency	Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage	ORPHA:335
Achondrogenesis Type 1B	Short nose, Anteverted nares	ORPHA:93298
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
Aicardi-Goutieres Syndrome 1	Short stature, Diabetes insipidus, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Hypothyro...	OMIM:225750
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Anteverted nares, Wide nasal bridge, Short nose, Broad columella, Low hangin...	OMIM:619383
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Short stature, Cutis marmorata, Hypoglycemia, Telangiectasia, Thy...	ORPHA:109
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Depressed nasal bridge, Anteverted nares, Prominent nose, Wide nasal bridge, Short nose	OMIM:618316
14Q24.1Q24.3 Microdeletion Syndrome	Short nose, Prominent nasal bridge, Wide nasal bridge	ORPHA:401935
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
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Bulbous nose, Depressed nasal bridge, Choanal atresia, Short nose	ORPHA:284169
Oromandibular Dystonia	Respiratory distress, Depression	ORPHA:93958
Pallister-Hall-Like Syndrome	Anterior hypopituitarism, Short nose, Depressed nasal bridge	OMIM:241800
Marshall-Smith Syndrome	Short nose, Failure to thrive, Anteverted nares, Choanal atresia	ORPHA:561
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Rett Syndrome	Increased serum pyruvate, Hyperammonemia, Failure to thrive, Increased serum leptin	ORPHA:778
Prolidase Deficiency	Failure to thrive, Short nose, Concave nasal ridge, Depressed nasal bridge	OMIM:170100
Achondrogenesis Type 1A	Short nose, Anteverted nares	ORPHA:93299
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
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
Craniosynostosis, Herrmann-Opitz Type	Short nose, Convex nasal ridge	ORPHA:2145
Camptodactyly Syndrome, Guadalajara Type 1	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:1327
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Bulbous nose, Prominent nasal bridge, Short nose	OMIM:613870
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
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Depressed nasal bridge, Anteverted nares, Decreased response to growth hormone stimulation test, ...	OMIM:615866
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose	OMIM:618618
Leprechaunism	Reduced subcutaneous adipose tissue, Postnatal growth retardation, Insulin resistance, Hyperinsul...	ORPHA:508
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Small for gestational age, Short nose, Anteverted nares, Wide nasal bridge	OMIM:616897
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr...	ORPHA:90363
Glutaric Acidemia I	Hypoglycemia	OMIM:231670
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Short nose, Anteverted nares	ORPHA:2701
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short nose, Wide nasal bridge	OMIM:614078
Congenital Generalized Lipodystrophy	Prominent superficial veins, Diabetes mellitus, Precocious puberty in females, Insulin resistance...	ORPHA:528
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Depressed nasal bridge	ORPHA:2835
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Thick nasal alae	ORPHA:163961
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Choanal stenosis, Short nose, Bilatera...	OMIM:619859
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
Severe X-Linked Intellectual Disability, Gustavson Type	Short nose, Recurrent upper respiratory tract infections, Small for gestational age	ORPHA:3078
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona...	ORPHA:99106
Harel-Yoon Syndrome	Short nose	OMIM:617183
Oculocerebrofacial Syndrome, Kaufman Type	Growth delay, Dyspnea, Respiratory failure, Respiratory distress	ORPHA:2707
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose	OMIM:300887
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Short nose, Prominent nasal bridge, Wide nasal bridge	OMIM:619179
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Lethargy	OMIM:251100
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bulbous nose, Depressed nasal bridge, Wide nasal bridge, Short nose	ORPHA:369891
Meckel Syndrome, Type 8	Short nose, Depressed nasal ridge	OMIM:613885
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
Codas Syndrome	Depressed nasal bridge, Anteverted nares, Midline defect of the nose, Short nose	ORPHA:1458
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	OMIM:249620
Acrodysostosis	Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Wide nasal bridge, Hypogonadism,...	ORPHA:950
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
Brain Malformations With Or Without Urinary Tract Defects	Short nose, Failure to thrive, Anteverted nares	OMIM:613735
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Urticaria, Growth delay, Acrocyanosis, Purpura	ORPHA:343
Citrullinemia Type Ii	Lethargy, Delayed menarche, Mania	ORPHA:247585
Bainbridge-Ropers Syndrome	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa...	OMIM:615485
Methylmalonic Acidemia With Homocystinuria Type Cblf	Growth delay, Intrauterine growth retardation, Lethargy	ORPHA:79284
Stickler Syndrome Type 1	Short nose	ORPHA:90653
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
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Anosmia, Hypogonadotropic hypogonadism	ORPHA:1295
Addison Disease	Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Adrenal calcification, Ad...	ORPHA:85138
Glycine Encephalopathy	Lethargy, Respiratory acidosis, Breathing dysregulation	ORPHA:407
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
Fetal Trimethadione Syndrome	Short nose, Depressed nasal bridge	ORPHA:1913
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Neonatal death	OMIM:300219
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, Wide nasal bridge	OMIM:218000
Intellectual Developmental Disorder, X-Linked 21	Short nose	OMIM:300143
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Short nose, Failure to thrive, Depressed nasal bridge	OMIM:619833
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long...	OMIM:300912
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short nose, Wide nasal bridge, Obesity	OMIM:620250
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Short nose, Failure to thrive, Elevated circulating creatine kinase concentration	ORPHA:329178
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Failure to thrive, Short nose	OMIM:615851
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
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
Cadds	Increased circulating very long-chain fatty acid concentration, Short nose, Adrenal hypoplasia	ORPHA:369942
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
Macrocephaly/Autism Syndrome	Short nose, Depressed nasal bridge, Obesity, Large for gestational age	OMIM:605309
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, Short nose, Failure to thrive	OMIM:613026
Donnai-Barrow Syndrome	Short nose, Depressed nasal bridge	ORPHA:2143
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte...	ORPHA:99104
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
Al-Raqad Syndrome	Short nose	OMIM:616459
Pearson Marrow-Pancreas Syndrome	Type I diabetes mellitus, Lethargy, Erythema	OMIM:557000
Tetrasomy 18P	Short nose	ORPHA:3307
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
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
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Abnormal circulating cholesterol concentration, Short...	OMIM:602398
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lethargy, Apnea	ORPHA:395
Orthostatic Hypotension 1	Neonatal hypoglycemia, Reduced circulating prolactin concentration	OMIM:223360
Down Syndrome	Depressed nasal bridge, Depressed nasal ridge, Obesity, Type II diabetes mellitus, Short nose, Hy...	ORPHA:870
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypothyroidism, Hypoglycemia, Premature thelarche, Premature pubarche	OMIM:616878
Microform Holoprosencephaly	Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Maternal diabetes, Pan...	ORPHA:280200
Gomez-Lopez-Hernandez Syndrome	Short nose, Anteverted nares, Decreased response to growth hormone stimulation test	OMIM:601853
Posterior Urethral Valve	Postnatal growth retardation, Lethargy	ORPHA:93110
Smith-Lemli-Opitz Syndrome	Depressed nasal bridge, Anteverted nares, Precocious puberty, Wide nasal bridge, Hypoalbuminemia,...	OMIM:270400
Meier-Gorlin Syndrome 6	Anteverted nares, Depressed nasal bridge, Decreased response to growth hormone stimulation test, ...	OMIM:616835
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae	OMIM:602473
Arthrogryposis, Distal, Type 2A	Small for gestational age, Underdeveloped nasal alae, Wide nasal bridge, Short nose, Failure to t...	OMIM:193700
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
Fibrochondrogenesis 2	Short nose, Anteverted nares	OMIM:614524
Desbuquois Dysplasia 1	Short nose, Concave nasal ridge, Depressed nasal bridge, Obesity	OMIM:251450
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:163649
Atypical Werner Syndrome	Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Abnormal circulating leptin concentra...	ORPHA:79474
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
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose	ORPHA:2547
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Lethargy	OMIM:607483
Microphthalmia With Limb Anomalies	Failure to thrive, Short nose, Flared nostrils, Depressed nasal bridge	OMIM:206920
Autosomal Dominant Omodysplasia	Short nose, Depressed nasal bridge	ORPHA:93328
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
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Short nose, Prominent nasal bridge, Underdeveloped nasal alae	ORPHA:2083
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
Femoral-Facial Syndrome	Short nose, Maternal diabetes	ORPHA:1988
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hypoketotic hypoglycemia	ORPHA:228305
Ethylene Glycol Poisoning	Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration	ORPHA:31826
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
Jaberi-Elahi Syndrome	Short nose, Failure to thrive, Depressed nasal bridge	OMIM:617988
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
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Short nose, Delayed puberty	ORPHA:496790
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Bulbous nose, Depressed nasal bridge, Wide nasal bridge, Short nose	OMIM:617061
Rajab Interstitial Lung Disease With Brain Calcifications 1	Short stature, Hypoglycemia, Tachypnea, Respiratory insufficiency, Growth delay, Respiratory fail...	OMIM:613658
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
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
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Depressed nasal bridge, Anteverted nares, Short nose, Large for gestational age	OMIM:615398
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating luteinizing hormon...	ORPHA:168558
8P23.1 Microdeletion Syndrome	Prominent nasal bridge, Wide nasal bridge, Obesity, Weight loss, Short nose	ORPHA:251071
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Short nose	OMIM:615539
Cutis Laxa, Autosomal Recessive, Type Iia	Short nose, Failure to thrive, Anteverted nares	OMIM:219200
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
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:93329
Peho Syndrome	Short nose	OMIM:260565
Difference Of Sex Development-Intellectual Disability Syndrome	Short nose, Hypogonadism	ORPHA:2983
Hydranencephaly	Postnatal growth retardation, Intrauterine growth retardation, Lethargy, Atrophic pituitary gland	ORPHA:2177
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrauterine growth retardation, Jaundice, Lethargy	OMIM:614866
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Prominent nasal bridge, Broad nasal tip, Wide nasal bridge, Decreased body weight, Short nose	OMIM:300749
Ruvalcaba Syndrome	Short nose, Convex nasal ridge, Delayed puberty	ORPHA:3121
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Anteverted nares, Broad nasal tip, Prominent nasolabial fold, Abnormal circulating apolipoprotein...	ORPHA:357074
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Foxg1 Syndrome Due To 14Q12 Microdeletion	Bulbous nose, Depressed nasal bridge, Short nose	ORPHA:261144
Glycogen Storage Disease Ib	Short stature, Hypoglycemia, Delayed puberty	OMIM:232220
16P11.2P12.2 Microdeletion Syndrome	Anteverted nares, Long nose, Bulbous nose, Absent nasal bridge, Short nose	ORPHA:261211
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia	OMIM:202650
Non-Distal Duplication 13Q	Short nose	ORPHA:1702
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Decreased response to growth hormone stimulation test, Small for gestatio...	OMIM:614114
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Decreased serum leptin, Underdeveloped nasal alae, Narrow naris, Failure to ...	OMIM:614098
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Prominent nasal bridge, Elevated circulating thyroid-stimulating hormo...	OMIM:601812
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
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Depressed nasal ridge	OMIM:300863
Distal Deletion 10Q	Prominent nasal bridge, Prominent nose, Wide nasal bridge, Short nose, Failure to thrive	ORPHA:96148
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Short nose, Depressed nasal bridge	OMIM:617802
Acquired Generalized Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Progeroid facial appea...	ORPHA:79086
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Anterior pituitary hypoplasia, Elevated circulating thyroid-stimulating h...	OMIM:613457
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
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose	OMIM:618087
Congenital Heart Defects And Skeletal Malformations Syndrome	Long nose, Short nose, Failure to thrive, Narrow nose	OMIM:617602
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Short columella, Short nose, Fai...	ORPHA:364577
C Syndrome	Short nose, Failure to thrive, Anteverted nares, Wide nasal bridge	OMIM:211750
Teebi Hypertelorism Syndrome 1	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	OMIM:145420
Meckel Syndrome 14	Pneumothorax, Cyanosis, Cardiorespiratory arrest	OMIM:619879
Waardenburg Syndrome Type 1	Short nose, Wide nasal bridge, Underdeveloped nasal alae	ORPHA:894
Kleefstra Syndrome Due To 9Q34 Microdeletion	Short nose, Failure to thrive, Anteverted nares, Obesity	ORPHA:96147
3C Syndrome	Short nose, Depressed nasal bridge, Wide nasal bridge, Adrenal hypoplasia	ORPHA:7
Lowry-Maclean Syndrome	Short nose, Short nasal bridge, Choanal atresia, Convex nasal ridge	ORPHA:2409
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
Pontocerebellar Hypoplasia, Type 10	Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Short nose, Low hanging columella	OMIM:615803
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short nose, Anteverted nares	ORPHA:1185
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
Trisomy 12P	Short nose, Wide nasal bridge	ORPHA:1699
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia	ORPHA:99901
Wars2-Related Combined Oxidative Phosphorylation Defect	Intrauterine growth retardation, Neonatal hypoglycemia	ORPHA:572798
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Depressed nasal bridge, Anteverted nare...	OMIM:146510
Deeah Syndrome	Neonatal respiratory distress, Short stature, Decreased response to growth hormone stimulation te...	OMIM:619004
20Q11.2 Microduplication Syndrome	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Abnormal nasal bridge morphology, Sh...	ORPHA:363659
Lipodystrophy, Congenital Generalized, Type 1	Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Insulin-resist...	OMIM:608594
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea, Inappropriate antidiuretic hormone secretion, Hypot...	ORPHA:79330
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Anteverted nares, Underdeveloped nasal alae	ORPHA:2031
Pfeiffer Syndrome	Depressed nasal bridge, Choanal stenosis, Choanal atresia, Short nose	OMIM:101600
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Low insertion of columella, ...	OMIM:619005
Prader-Willi Syndrome	Hypoventilation, Short stature, Hypogonadotropic hypogonadism, Decreased response to growth hormo...	OMIM:176270
Poikiloderma With Neutropenia	Depressed nasal bridge, Elevated circulating creatine kinase concentration, Underdeveloped nasal ...	OMIM:604173
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum leptin, Hyperinsulinemia, Insulin-...	OMIM:269700
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Short nose, Anteverted nares	OMIM:617877
Neurodegeneration With Brain Iron Accumulation 2A	Short nose	OMIM:256600
Carnitine Palmitoyltransferase Ii Deficiency	Neonatal respiratory distress, Hypoketotic hypoglycemia	ORPHA:157
Fetal Hydantoin Syndrome	Short nose, Depressed nasal ridge	ORPHA:1912
Weiss-Kruszka Syndrome	Short nose, Anteverted nares	OMIM:618619
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Hypoglycemia	OMIM:614501
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
Micro Syndrome	Short nose, Anteverted nares, Wide nasal bridge, Delayed puberty	ORPHA:2510
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Short stature	OMIM:610536
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Bartsocas-Papas Syndrome	Short nose, Underdeveloped nasal alae	ORPHA:1234
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul...	ORPHA:97214
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Depressed nasal ridge	ORPHA:163966
Transcobalamin Ii Deficiency	Lethargy	OMIM:275350
Phosphoribosylpyrophosphate Synthetase Superactivity	Small for gestational age, Depressed nasal bridge, Hyperuricemia, Short nose, Convex nasal ridge	OMIM:300661
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
Osteogenesis Imperfecta, Type X	Respiratory distress, Rhizomelia, Short stature, Recurrent pneumonia, Chronic lung disease	OMIM:613848
Craniofacial-Deafness-Hand Syndrome	Short nose, Depressed nasal bridge, Narrow naris	OMIM:122880
Robinow Syndrome, Autosomal Recessive 2	Short nose, Anteverted nares, Wide nasal bridge, Broad nasal tip	OMIM:618529
Cenani-Lenz Syndrome	Short nose, Hypothyroidism, Convex nasal ridge	ORPHA:3258
Mietens Syndrome	Wide nose, Wide nasal bridge, Short nose	ORPHA:2557
Intellectual Developmental Disorder, Autosomal Dominant 1	Prominent nose, Bulbous nose, Depressed nasal ridge, Short columella, Short nose	OMIM:156200
Nestor-Guillermo Progeria Syndrome	Failure to thrive, Convex nasal ridge, Decreased serum leptin	OMIM:614008
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
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
Farber Disease	Respiratory distress, Short stature, Respiratory insufficiency	ORPHA:333
Fucosidosis	Hypothyroidism, Acrocyanosis, Vascular skin abnormality	ORPHA:349
Desmosterolosis	Short nose, Failure to thrive, Depressed nasal bridge, Abnormality of the nose	ORPHA:35107
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:617822
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Bulbous nose, Wide nasal bridge, Short nose	OMIM:618571
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy, Tachypnea	ORPHA:415
Achondroplasia	Respiratory distress, Neonatal short-limb short stature, Rhizomelia, Upper airway obstruction	OMIM:100800
Antley-Bixler Syndrome	Short nose, Anteverted nares, Choanal atresia	ORPHA:83
Dend Syndrome	Short nose, Anteverted nares, Elevated hemoglobin A1c	ORPHA:79134
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy	OMIM:201470
Oculodentodigital Dysplasia	Hypoglycemia	ORPHA:2710
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short nose, Failure to thrive, Hypercalcemia	ORPHA:476126
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Ecchymosis	ORPHA:36234
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Anteverted nares, Hypogonadotropic hypogonadism, Decreased response to growt...	ORPHA:177907
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Small for gestational age, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:257300
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect, Neonatal short-trunk short stature	OMIM:183900
3Q29 Microdeletion Syndrome	Short nose, Failure to thrive, Prominent nasal bridge	ORPHA:65286
Infantile Krabbe Disease	Respiratory distress, Respiratory failure	ORPHA:206436
Adenylosuccinase Deficiency	Short nose, Anteverted nares	OMIM:103050
Trichothiodystrophy 1, Photosensitive	Small for gestational age, Short nose, Hypogonadism	OMIM:601675
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
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Small for gestational age, Narrow nasal ridge, Type I diabetes mellitus, Hy...	OMIM:606721
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose	ORPHA:1129
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
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short nose	ORPHA:79113
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
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Short nose, Wide nasal bridge, Broad nasal tip	OMIM:614749
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Trichinellosis	Lethargy, Apathy	ORPHA:863
Baller-Gerold Syndrome	Narrow nasal bridge, Short nose, Failure to thrive in infancy, Prominent nasal bridge	ORPHA:1225
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	ORPHA:560
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
Malan Syndrome	Short nose	OMIM:614753
Brachytelephalangic Chondrodysplasia Punctata	Broad nasal tip, Depressed nasal ridge, Nasal congestion, Short columella, Short nose, Thick nasa...	ORPHA:79345
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short nose, Wide nasal bridge, Broad nasal tip	OMIM:239300
Fetal Alcohol Syndrome	Short nose, Anteverted nares	ORPHA:1915
Cocaine Intoxication	Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Mania, Hyperventilation	ORPHA:90068
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Short nose, Anteverted nares, Wide nasal bridge	OMIM:614701
Cardiofaciocutaneous Syndrome 1	Depressed nasal bridge, Anteverted nares, Bulbous nose, Short nose, Failure to thrive	OMIM:115150
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
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Long nose, Short nose, Depressed nasal bridge	OMIM:618590
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
Lathosterolosis	Bulbous nose, Failure to thrive, Anteverted nares, Short nose	ORPHA:46059
Donnai-Barrow Syndrome	Short nose, Depressed nasal bridge, Broad nasal tip	OMIM:222448
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Perlman Syndrome	Hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:267000
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Short nose, Failure to thrive, Congenital hypothyroidism	OMIM:617527
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Th...	ORPHA:31204
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea	ORPHA:2299
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Wide nasal bridge, Broad nasal tip	OMIM:614207
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Wide nose, Prominent nasal bridge, Short nose, Convex nasal ridge	ORPHA:251028
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypothyroidism, Short nose, Depressed nasal bridge	ORPHA:1812
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Recurrent pneumonia, Hyperinsulinemia	OMIM:613327
Distal Deletion 9P	Short nose, Wide nasal bridge	ORPHA:1642
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Hypoglycemia	OMIM:301066
Developmental Delay With Or Without Dysmorphic Facies And Autism	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Bulbous nose, Wide nasal bridge...	OMIM:618454
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Choanal stenosis, Short nose	ORPHA:1790
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Citrullinemia, Classic	Lethargy	OMIM:215700
Miller-Dieker Lissencephaly Syndrome	Short nose, Failure to thrive, Anteverted nares, Wide nasal bridge	OMIM:247200
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Anteverted nares, Short nose, Large for gestational age	OMIM:614080
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress, Short stature	OMIM:260400
Trichothiodystrophy 4, Nonphotosensitive	Short nose, Anteverted nares	OMIM:234050
Toluene Embryopathy	Short nose	ORPHA:1920
Atelis Syndrome 2	Dyspnea, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:357001
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea, Flushing	ORPHA:2131
Pfeiffer Syndrome Type 1	Short nose, Depressed nasal bridge	ORPHA:93258
Otopalatodigital Syndrome, Type I	Short nose, Wide nasal bridge	OMIM:311300
Kleefstra Syndrome	Short nose, Anteverted nares, Obesity	ORPHA:261494
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Opsismodysplasia	Short nose, Depressed nasal bridge	ORPHA:2746
Tuberous Sclerosis Complex	Respiratory distress, Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Dep...	ORPHA:805
Double Outlet Left Ventricle	Cyanosis, Tachypnea	ORPHA:3427
Warburg Micro Syndrome 3	Short nose	OMIM:614222
White-Kernohan Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Obesity, Short nose, Hypothy...	OMIM:619426
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis	ORPHA:268943
Q Fever	Respiratory distress, Pneumonia, Cough, Pleural effusion, Purpura	ORPHA:781
Opsismodysplasia	Depressed nasal bridge, Anteverted nares, Short nose, Hypophosphatemia	OMIM:258480
Toriello-Lacassie-Droste Syndrome	Short nose, Failure to thrive, Anteverted nares	ORPHA:3339
Goodpasture Syndrome	Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ...	OMIM:233450
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
Rhombencephalosynapsis	Short nose, Anteverted nares	ORPHA:59315
Renal And Mullerian Duct Hypoplasia	Short nose	OMIM:266810
Fibrochondrogenesis 1	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:228520
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epistaxis	OMIM:277450
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Anteverted nares, Failure to thrive in infancy, Short nose	ORPHA:1340
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
Au-Kline Syndrome	Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Short nose,...	OMIM:616580
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
Chops Syndrome	Short nose, Anteverted nares, Obesity	OMIM:616368
Holoprosencephaly 1	Short stature, Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia	OMIM:236100
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nose, Anteverted nares, Decreased response to growth hormone stimulation test, Large for ges...	OMIM:213980
Peho Syndrome	Short nose, Anteverted nares	ORPHA:2836
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
Plaa-Associated Neurodevelopmental Disorder	Short nose, Failure to thrive	ORPHA:521426
Argininosuccinic Aciduria	Lethargy	OMIM:207900
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress	OMIM:612852
Achondrogenesis, Type Ia	Hypoplastic nasal bridge, Short nose, Anteverted nares, Depressed nasal bridge	OMIM:200600
Warburg Micro Syndrome 2	Short nose, Prominent nasal bridge	OMIM:614225
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Depressed nasal bridge, Anteverted nares, Broad nasal tip, Wide nasal bridge, Pseudohypoparathyro...	OMIM:617157
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea, Petechiae, Purpura	ORPHA:2330
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:261236
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
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short nose, Depressed nasal bridge	OMIM:616723
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea	ORPHA:99050
Marshall-Smith Syndrome	Depressed nasal bridge, Anteverted nares, Choanal atresia, Recurrent upper respiratory tract infe...	OMIM:602535
Schneckenbecken Dysplasia	Short nose	OMIM:269250
Distal Duplication 5Q	Short nose, Prominent nasal bridge	ORPHA:96097
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Lathosterolosis	Anteverted nares, Wide nasal bridge, Abnormal circulating cholesterol concentration, Hyperbilirub...	OMIM:607330
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Depressed nasal bridge, Anteverted nares, Long nose, Bulbous nose, Short nose	ORPHA:508533
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Pulmonary arterial hypertension, Stridor, Airway obstruction	ORPHA:505248
1P21.3 Microdeletion Syndrome	Short nose, Obesity, Broad nasal tip	ORPHA:293948
Mgat2-Cdg	Respiratory distress, Abnormality of the endocrine system	ORPHA:79329
Trisomy 20P	Short nose, Anteverted nares	ORPHA:261318
Ramos-Arroyo Syndrome	Respiratory distress, Severe short stature	ORPHA:1051
Wiedemann-Steiner Syndrome	Short nose, Failure to thrive, Wide nasal bridge, Decreased response to growth hormone stimulatio...	ORPHA:319182
Robinow Syndrome, Autosomal Dominant 2	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:616331
Osteoglophonic Dysplasia	Depressed nasal bridge, Anteverted nares, Choanal atresia, Nasal congestion, Short nose, Failure ...	OMIM:166250
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
Coffin-Siris Syndrome	Depressed nasal bridge, Anteverted nares, Broad nasal tip, Recurrent upper respiratory tract infe...	ORPHA:1465
Nicolaides-Baraitser Syndrome	Narrow nasal bridge, Anteverted nares, Bulbous nose, Wide nasal base, Failure to thrive, Short no...	OMIM:601358
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Short nose, Anteverted nares	OMIM:612394
Robinow Syndrome	Decreased serum testosterone concentration, Depressed nasal bridge, Anteverted nares, Small for g...	ORPHA:97360
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Short nose, Narrow nose, Low ha...	OMIM:164200
Temtamy Preaxial Brachydactyly Syndrome	Short nose	ORPHA:363417
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Short nose, Short columella, Wide nasal bridge	OMIM:613603
Jacobsen Syndrome	Depressed nasal bridge, Failure to thrive, Anteverted nares, Short nose	OMIM:147791
Raine Syndrome	Depressed nasal bridge, Choanal atresia, Choanal stenosis, Hypophosphatemia, Short nose	OMIM:259775
Carey-Fineman-Ziter Syndrome	Short nose, Anteverted nares	ORPHA:1358
Stüve-Wiedemann Syndrome	Respiratory distress, Short stature, Apnea, Asthma, Ectopic thyroid, Intrauterine growth retardat...	ORPHA:3206
Holoprosencephaly 7	Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, Depressed nasal tip, Hypoplast...	OMIM:610828
Otopalatodigital Syndrome Type 2	Short nose, Failure to thrive, Depressed nasal bridge	ORPHA:90652
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Pleural effusion	OMIM:620369
Acrofacial Dysostosis, Catania Type	Short nose	ORPHA:1786
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
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
Cerebrofaciothoracic Dysplasia	Wide nose, Short nose	ORPHA:1394
Trisomy 10P	Small for gestational age, Depressed nasal bridge, Anteverted nares, Abnormality of the nose, Sho...	ORPHA:171929
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione...	OMIM:201750
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Depressed nasal bridge, Anteverted nares, Bulbous nose, Congenital hypothyroidism, Short nose	OMIM:271510
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Neonatal insulin-dependent diabetes mellitus, Congenital hypothyroidism, In...	ORPHA:2255
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:154780
Trisomy 18	Short nose, Choanal atresia, Cachexia	ORPHA:3380
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Small for gestational age, Prominent nasal bridge, Decreased response to growth hormone stimulati...	ORPHA:268261
Helsmoortel-Van Der Aa Syndrome	Anteverted nares, Decreased response to growth hormone stimulation test, Broad nasal tip, Wide na...	OMIM:615873
Rothmund-Thomson Syndrome, Type 2	Hypogonadism, Short nose, Depressed nasal bridge, Small for gestational age	OMIM:268400
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:2719
Stuve-Wiedemann Syndrome 1	Wide nasal base, Anteverted nares, Short nose, Low hanging columella	OMIM:601559
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:301040
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
Nablus Mask-Like Facial Syndrome	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	OMIM:608156
Musculocontractural Ehlers-Danlos Syndrome	Prominent nasolabial fold, Short nose	ORPHA:2953
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
Familial Dysautonomia	Growth delay, Acrocyanosis	ORPHA:1764
Robinow Syndrome, Autosomal Dominant 3	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	OMIM:616894
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
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
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Failure to thrive, Anteverted nares, Overweight, Bulbous nose, Wide nasal bridge, Obesity, Depres...	OMIM:619475
Ogden Syndrome	Depressed nasal bridge, Maternal diabetes, Underdeveloped nasal alae, Bifid nasal tip, Flared nos...	OMIM:300855
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Choanal stenosis, Shor...	OMIM:269150
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Depressed nasal bridge, Increased size of nasopharyngeal adenoids, Short nose	ORPHA:457395
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension	ORPHA:210122
Alg9-Cdg	Depressed nasal bridge, Underdeveloped nasal alae, Low insertion of columella, Hypoplasia of the ...	ORPHA:79328
Coccidioidomycosis	Respiratory distress, Pneumonia, Abnormality of the endocrine system, Pleural empyema, Cough, Exu...	ORPHA:228123
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Abdominal obesity, Hypoplasia of the ovary, Azotemia, Short nose, Convex nasal ridge	OMIM:619321
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
Khan-Khan-Katsanis Syndrome	Short nose, Failure to thrive	OMIM:618460
Molybdenum Cofactor Deficiency, Complementation Group B	Short nose, Hypouricemia	OMIM:252160
Cleidocranial Dysplasia 1	Respiratory distress, Moderately short stature, Short stature, Neonatal respiratory distress	OMIM:119600
Cerebrooculonasal Syndrome	Short nose, Anteverted nares, Prominent nasal bridge, Proboscis	OMIM:605627
Gapo Syndrome	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:230740
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
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose, Hypouricemia	OMIM:252150
Monosomy 9Q22.3	Short nose, Large for gestational age	ORPHA:77301
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation	ORPHA:255210
Beckwith-Wiedemann Syndrome	Adrenocortical cytomegaly, Hypoglycemia, Adrenocortical carcinoma, Pseudohypoparathyroidism, Hypo...	ORPHA:116
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Short nose, Depressed nasal bridge	OMIM:601353
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small for gestational age, Depressed nasal bridge, Broad nasal tip, Bulbous nose, Short nose	OMIM:309590
Coffin-Lowry Syndrome	Wide nose, Anteverted nares, Thick nasal septum, Decreased body weight, Short nose, Thick nasal a...	OMIM:303600
Orofaciodigital Syndrome Type 4	Wide nose, Choanal atresia, Primary adrenal insufficiency, Depressed nasal ridge, Short nose, Fai...	ORPHA:2753
Peroxisome Biogenesis Disorder 4B	Short nose, Adrenal insufficiency	OMIM:614863
Chromosome 16P13.3 Duplication Syndrome	Wide nose, Depressed nasal bridge, Anteverted nares, Bulbous nose, Wide nasal bridge, Short nose	OMIM:613458
Dermatomyositis	Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial...	ORPHA:221
Spondylodysplastic Ehlers-Danlos Syndrome	Agenesis of pineal gland, Depressed nasal bridge, Anteverted nares, Hypogonadism, Short nose	ORPHA:536471
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Depression, ...	ORPHA:95455
Acrocallosal Syndrome	Short nose, Failure to thrive, Wide nasal bridge	OMIM:200990
Witteveen-Kolk Syndrome	Wide nose, Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, Underdeveloped nasal...	OMIM:613406
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Short nose, Anteverted nares, Elevated circulating alpha-fetoprotein concentration	ORPHA:280633
Rubinstein-Taybi Syndrome 1	Respiratory distress, Short stature, Premature thelarche, Postnatal growth retardation, Growth delay	OMIM:180849
Autosomal Recessive Robinow Syndrome	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	ORPHA:1507
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy...	ORPHA:99125
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Short nose, Anteverted nares, Wide nasal bridge	ORPHA:2282
Robinow Syndrome, Autosomal Recessive 1	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	OMIM:268310
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Fragile skin	OMIM:614748
Atelosteogenesis, Type I	Short nose, Depressed nasal bridge	OMIM:108720
Degcags Syndrome	Anteverted nares, Prominent nasal bridge, Small for gestational age, Prominent nose, Rhinitis, Hy...	OMIM:619488
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Prominent nasal tip, Short nose	ORPHA:522077
Pineoblastoma	Lethargy	ORPHA:251909
Zttk Syndrome	Short nose, Failure to thrive, Depressed nasal bridge, Wide nasal bridge	OMIM:617140
Blomstrand Lethal Chondrodysplasia	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:50945
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
Ctcf-Related Neurodevelopmental Disorder	Anteverted nares, Small for gestational age, Broad nasal tip, Short columella, Short nose, Failur...	ORPHA:363611
Autosomal Recessive Faciodigitogenital Syndrome	Short nose, Anteverted nares, Prominent nasal bridge	ORPHA:1974
Ring Chromosome 7 Syndrome	Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Narrow naris, Hypogonadism, Short nose	ORPHA:1449
Sponastrime Dysplasia	Wide nose, Aplasia of the nasal bone, Anteverted nares, Depressed nasal bridge, Small for gestati...	ORPHA:93357
Frontofacionasal Dysplasia	Bifid nose, Short nose, Midline defect of the nose, Underdeveloped nasal alae	OMIM:229400
Congenital Disorder Of Deglycosylation 1	Respiratory distress	OMIM:615273
Trisomy 8P	Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Short nose	ORPHA:264450
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Neonatal hypoglycemia	ORPHA:457359
Van Esch-O'Driscoll Syndrome	Short nose, Depressed nasal bridge, Hypogonadotropic hypogonadism	OMIM:301030
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Anteverted nares, Decreased response to growth hormone stimulation test, Obesity, Short nose, Hyp...	ORPHA:444077
Monosomy 9P	Depressed nasal bridge, Anteverted nares, Choanal atresia, Short nose	ORPHA:261112
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Respiratory distress	ORPHA:83617
Jacobsen Syndrome	Short nose, Anteverted nares, Wide nasal bridge, Broad columella	ORPHA:2308
Autosomal Dominant Robinow Syndrome	Wide nose, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	ORPHA:3107
Faciodigitogenital Syndrome, Autosomal Recessive	Short nose, Anteverted nares, Prominent nasal bridge	OMIM:227330
Aymé-Gripp Syndrome	Short nose, Depressed nasal bridge	ORPHA:1272
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Short nose	OMIM:609942
Stickler Syndrome	Anteverted nares, Depressed nasal bridge, Cachexia, Depressed nasal ridge, Short nose, Slender build	ORPHA:828
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis	ORPHA:48435
Schinzel-Giedion Syndrome	Streak ovary, Failure to thrive in infancy, Broad nasal tip, Central hypothyroidism, Choanal sten...	ORPHA:798
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Pallister-Hall Syndrome	Hypopituitarism, Anteverted nares, Choanal atresia, Adrenal hypoplasia, Large for gestational age...	ORPHA:672
Acromesomelic Dysplasia 1	Short nose	OMIM:602875
Beckwith-Wiedemann Syndrome	Adrenocortical carcinoma, Adrenocortical cytomegaly, Neonatal hypoglycemia	OMIM:130650
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata	OMIM:259900
Fontaine Progeroid Syndrome	Small for gestational age, Depressed nasal bridge, Short nose, Failure to thrive, Convex nasal ridge	OMIM:612289
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Recurre...	OMIM:618332
Spondylocarpotarsal Synostosis Syndrome	Short nose, Anteverted nares, Broad nasal tip	OMIM:272460
Acrocephalopolydactylous Dysplasia	Short nose	OMIM:200995
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
Ayme-Gripp Syndrome	Short nose, Depressed nasal bridge, Wide nasal bridge	OMIM:601088
C Syndrome	Depressed nasal bridge, Anteverted nares, Failure to thrive in infancy, Short nose	ORPHA:1308
Geleophysic Dysplasia 1	Short nose, Anteverted nares	OMIM:231050
Bartsocas-Papas Syndrome 1	Short nose, Underdeveloped nasal alae	OMIM:263650
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension, Cyanosis, Adrenal calcification	ORPHA:51608
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Short nose, Anteverted nares, Choanal atresia, Narrow nose	OMIM:301044
Cornelia De Lange Syndrome	Depressed nasal bridge, Anteverted nares, Choanal atresia, Truncal obesity, Delayed puberty, Shor...	ORPHA:199
Primary Hyperoxaluria	Acrocyanosis, Cutis marmorata	ORPHA:416
Geleophysic Dysplasia 2	Short nose	OMIM:614185
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Short nose, Wide nasal bridge	OMIM:609945
Leptospirosis	Respiratory distress, Pleural effusion, Jaundice, Cough	ORPHA:509
Williams-Beuren Syndrome	Diabetes mellitus, Depressed nasal bridge, Anteverted nares, Hypercalcemia, Broad nasal tip, Fail...	OMIM:194050
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Depressed nasal bridge, Decreased response to growth hormone stimulation test, Prominent nose, Pr...	OMIM:619503
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
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Streak ovary, Short nose	OMIM:618820
Okamoto Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, Short nose	ORPHA:2729
Williams Syndrome	Hypogonadotropic hypogonadism, Hypercalcemia, Elevated circulating creatine kinase concentration,...	ORPHA:904
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Abnormal circulating thyroid hormone concentration, Short stature, Delayed ...	ORPHA:480880
Toriello-Carey Syndrome	Short nose	ORPHA:3338
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising...	ORPHA:287
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Phocomelia, Schinzel Type	Short nose	ORPHA:2879
Hypermobile Ehlers-Danlos Syndrome	Acrocyanosis, Apnea, Depression	ORPHA:285
Specc1L-Related Hypertelorism Syndrome	Short nose, Prominent nasal bridge, Wide nasal bridge	ORPHA:1519
Omodysplasia 1	Short nose, Depressed nasal bridge, Wide nasal bridge	OMIM:258315
Doors Syndrome	Respiratory distress, Adrenal hyperplasia, Aspiration pneumonia, Congenital hypothyroidism	ORPHA:79500
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Broad nasal tip, Wide nasal bridge, Hypocalcemia, Prominent nasal tip, Short nose	OMIM:620330
Plague	Respiratory distress, Acute infectious pneumonia, Depression	ORPHA:707
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal bridge, Depressed nasal ridge, Concave nasal ridge, Short nose, Enlarged naris	OMIM:271665
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Anteverted nares, Broad nasal tip, Long nose, Bulbous nose, Wide nasal bridge, Short nose	OMIM:619522
Robinow Syndrome, Autosomal Dominant 1	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	OMIM:180700
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Short nose, Depressed nasal bridge, Wide nasal bridge, Failure to thrive in infancy	ORPHA:500150
Pmm2-Cdg	Respiratory distress, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentr...	ORPHA:79318
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Short nose, Short columella	OMIM:601776
Femoral-Facial Syndrome	Short nose, Maternal diabetes, Underdeveloped nasal alae	OMIM:134780
Peters Plus Syndrome	Depressed nasal bridge, Anteverted nares, Congenital hypothyroidism, Short columella, Short nose,...	ORPHA:709
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis	ORPHA:216694
Sotos Syndrome	Neonatal hypoglycemia, Prolonged neonatal jaundice, Hypothyroidism, Pulmonary bleb, Flushing	ORPHA:821
Penile Agenesis	Short nose, Depressed nasal bridge, Maternal diabetes	ORPHA:49
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Short stature, Recurrent pneumonia, Growth delay, Intrauterine growth retar...	ORPHA:99646
Simpson-Golabi-Behmel Syndrome, Type 1	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Pancreatic islet-cell hyperplasia, S...	OMIM:312870
Aspartylglucosaminuria	Short nose, Wide nasal bridge	ORPHA:93
Pallister-Killian Syndrome	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Obesity, Short nose	OMIM:601803
Schneckenbecken Dysplasia	Disproportionate short-limb short stature	ORPHA:3144

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 Inppl1

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 Inppl1.

No publications found that use IMPC mice or data for Inppl1.

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
Inppl1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Inppl1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us