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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Opsismodysplasia
Anteverted nares, Short nose, Depressed nasal bridge, Hypophosphatemia OMIM:258480
Opsismodysplasia
Short nose, Depressed nasal bridge ORPHA:2746
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 Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
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 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
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Acid-Labile Subunit Deficiency
Insulin insensitivity, Mild postnatal growth retardation, Decreased serum insulin-like growth fac... OMIM:615961
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Growth delay, Decreased serum insulin-like growth factor 1, Short stature, Delayed ... ORPHA:314802
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... ORPHA:293964
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypoglycemia, Severe postnatal growth retardation, Short stature, Pituitar... OMIM:262700
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Dystonia, Hypoglycemia, Short stature, Hypogonadism, Ataxia, Postnatal gr... OMIM:616113
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Pituitary dwarfism, Severe short stature, Impaired growth-hormone response to insul... OMIM:262400
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Increased waist to hip ratio, Insulin resistance OMIM:125853
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hypoglycemia, Leucine-Induced
Drowsiness, Hypoglycemia, Hyperinsulinemic hypoglycemia, Ataxia, Coma OMIM:240800
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemic coma, Diabetes mellitus OMIM:602485
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Growth delay, Decreased serum insulin-like growth factor 1, Short stature, Delayed ... ORPHA:314811
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Hypoglycemia, Severe short stature OMIM:223500
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemic coma OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemic coma OMIM:609975
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Drowsiness, Excessive insulin ... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Growth delay... ORPHA:171706
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Drowsiness, Hyperinsulinemic hypoglycemia, Pancre... ORPHA:276608
Hypothyroidism, Congenital, Nongoitrous, 7
Growth delay, Short stature, Reduced TSH response to thyrotrophin-releasing hormone stimulation t... OMIM:618573
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Drowsiness, Excessive insulin ... ORPHA:276580
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglyc... OMIM:256450
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Drowsiness, Focal pancreatic islet hyperplasia, E... ORPHA:276575
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperinsulinism Due To Ucp2 Deficiency
Drowsiness, Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulinem... ORPHA:276556
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Intrauterine growth retardation, Ketotic hypoglycemia, Respiratory distress, Lethargy ORPHA:26792
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Short stature ORPHA:366
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Intrauterine growth retardation, Hyperglycemia, Diabetic ketoacidosis, Maturit... ORPHA:99886
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Dystonia, Hypoglycemia, Coma ORPHA:67046
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Hypoglycemia, Lethargy OMIM:610006
Chylomicron Retention Disease
Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decrea... OMIM:246700
Glycogen Storage Disease Ixa1
Hypoglycemia, Growth delay OMIM:306000
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Diabetes mellitus, Acute infectious pneumonia, Chronic lu... ORPHA:140896
Glycogen Storage Disease Vi
Postnatal growth retardation, Hypoglycemia OMIM:232700
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemic coma OMIM:606762
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:147630
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia, Growth delay OMIM:616111
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Attention deficit hyperactivity disorder... ORPHA:35878
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Dystonia, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypog... ORPHA:453533
Insulinoma
Neuroendocrine neoplasm, Fluctuations in consciousness, Neoplasm of the adrenal gland, Hyperinsul... ORPHA:97279
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty, Failure to thrive OMIM:616834
Staphylococcal Necrotizing Pneumonia
Confusion, Hypoxemia, Increased circulating procalcitonin concentration, Pneumonia, Tachypnea, Pn... ORPHA:36238
Dihydrolipoamide Dehydrogenase Deficiency
Ataxia, Dystonia, Hypoglycemia, Lethargy OMIM:246900
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Growth delay, Short stature, Coma, Loss of consciousness, Ad... OMIM:307030
Hypoadrenocorticism, Familial
Adrenal insufficiency, Hypoglycemia, Apnea, Cyanosis, Adrenal hypoplasia OMIM:240200
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Ataxia, Respiratory insufficiency, Lethargy OMIM:618224
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Apnea, Coma, Dyspnea, Hyperventilation, Lethargy OMIM:229700
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Short stature, Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia, Lethargy ORPHA:2089
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions ORPHA:137935
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Gait imbalance, Short stature, Lethargy OMIM:618120
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Central apnea, Ataxia, Cyanosis, Confusion, Lethargy ORPHA:71277
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Short stature, H... ORPHA:181393
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Cholesterol Pneumonia
Tachypnea, Cyanosis, Cough, Pneumonia OMIM:215030
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia ORPHA:446
Carnitine Deficiency, Systemic Primary
Hypoglycemia, Excessive daytime somnolence, Recurrent hypoglycemia, Coma, Impaired gluconeogenesi... OMIM:212140
Myopathy And Diabetes Mellitus
Progressive cerebellar ataxia, Respiratory distress, Inability to walk, Type I diabetes mellitus,... ORPHA:2596
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Short stature, Neonatal hypoglycemia, Hypogonadism, Panhypopituitarism, Hy... OMIM:262600
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
17Q21.31 Microduplication Syndrome
Failure to thrive, Anteverted nares, Short nose, Delayed puberty ORPHA:217340
Developmental And Epileptic Encephalopathy 92
Dystonia, Ataxia, Inability to walk, Difficulty walking, Lethargy OMIM:617829
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Hypoglycemia OMIM:610090
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Paroxysmal lethargy, Ataxia, Confusion, Lethargy OMIM:606777
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Short stature, Insulin-resistant diabetes mellitus, Diabetic ... OMIM:262190
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Confusion, Coma, Lethargy OMIM:237310
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Mehmo Syndrome
Hypoglycemia, Birth length less than 3rd percentile, Inability to walk, Male hypogonadism, Diffic... OMIM:300148
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hypoglycemia, Apnea, Cyanosis, Impaired gluconeogenesis OMIM:261680
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation, Excessive daytime somnolence OMIM:257500
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Depressed nasal ridge, Steatorrhea, Failure to thrive OMIM:266510
Infantile Liver Failure Syndrome 2
Jaundice, Hypoglycemia, Lethargy OMIM:616483
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Adrenal insufficiency, Hypoglycemia, Lethargy OMIM:619386
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Short stature, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed p... OMIM:616033
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Coma, Apnea, Hypoglycemia, Lethargy OMIM:210200
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hypoglycemia OMIM:614741
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency, Lethargy OMIM:605711
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Acquired Methemoglobinemia
Hypoxemia, Drowsiness, Respiratory distress, Coma, Cyanosis, Loss of consciousness, Dyspnea, Conf... ORPHA:464453
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Severe short stature OMIM:302000
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Postnatal growth retardation, Hypoglycemia, Short stature, Neonatal hypoglycemia ORPHA:231140
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Drowsiness, Hyperinsulinemic hypoglycemia, Glycos... ORPHA:263455
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Respiratory insufficiency ORPHA:6
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency, Short stature ORPHA:2901
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Intrauterine growth retardation, Hypoglycemia, Jaundice OMIM:617156
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Fasting hypoglycemia, Hypoglycemia, Drowsiness, Excessive daytime som... ORPHA:348
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy ORPHA:79283
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Maternal diabetes, Intrauterine growth retardation, Atelectasis, Pneumothora... ORPHA:70588
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions, Reduced for... ORPHA:91359
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cough, Respiratory distress, Cyanosis, Respiratory failure OMIM:263000
Mody
Intrauterine growth retardation, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycem... ORPHA:552
Hemochromatosis Type 2
Hypogonadism, Abnormality of endocrine pancreas physiology, Diabetes mellitus, Lethargy ORPHA:79230
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia, Gait ataxia, Unsteady gait OMIM:618158
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea, Hypoglycemia, Lethargy OMIM:615751
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Respiratory arrest, Hypoketotic hypoglycemia, Lethargy OMIM:600649
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Respiratory distress,... ORPHA:1302
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Wide nose, Short nose, Decreased circulating osteocalcin level OMIM:125700
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal glucose homeostasis, Cough, Inability to walk, Respiratory failure, Dyspnea, Respiratory... ORPHA:90117
Breath-Holding Spells
Cyanosis, Loss of consciousness OMIM:607578
Carnitine Palmitoyl Transferase 1A Deficiency
Coma, Hypoglycemia, Loss of consciousness, Lethargy ORPHA:156
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Cough, Lethargy ORPHA:163703
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Apnea, Lethargy OMIM:618225
Classic Galactosemia
Gait disturbance, Dystonia, Hypoglycemia, Decreased serum insulin-like growth factor 1, Gait imba... ORPHA:79239
Cirrhosis, Familial
Jaundice, Pulmonary arterial hypertension, Lethargy OMIM:215600
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Short stature, Lethargy ORPHA:49827
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Hypoglycemia, Respiratory insufficiency OMIM:618253
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Growth delay, Lethargy OMIM:274270
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Hypoglycemia ORPHA:231147
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose OMIM:218010
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Apnea, Hypoglycemia OMIM:619048
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Coma, Increased circulating ACTH level, Decreased circulating cortisol level OMIM:202200
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Sudden episodic apnea, Respiratory insufficiency,... ORPHA:159
Endocardial Fibroelastosis
Hypoglycemia, Anterior hypopituitarism ORPHA:2022
Mental Retardation, X-Linked 91
Obesity, Short nose OMIM:300577
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Homocystinuria Without Methylmalonic Aciduria
Ataxia, Lethargy ORPHA:622
Lethal Infantile Mitochondrial Myopathy
Neonatal respiratory distress, Lethargy ORPHA:254857
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy OMIM:613710
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Hypoglycemia, Intrauterine growth retardation, Short stat... ORPHA:73272
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level OMIM:607398
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Intrauterine growth retardation, Short stature, Dysmetria, Hypogonadotropic hypogon... ORPHA:48431
Squalene Synthase Deficiency
Failure to thrive in infancy, Depressed nasal bridge, Hypocholesterolemia, Increased circulating ... OMIM:618156
Evans Syndrome
Petechiae, Epistaxis, Jaundice, Dyspnea, Bruising susceptibility, Lethargy ORPHA:1959
Mitochondrial Complex I Deficiency, Nuclear Type 6
Respiratory insufficiency, Lethargy OMIM:618228
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... OMIM:615703
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Ataxia, Bradykinesia, Lethargy OMIM:618683
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Hypoglycemia OMIM:614702
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Respiratory insufficiency, Apnea, Ataxia, Lethargy OMIM:618226
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Episodic ataxia, Apneic episodes precipitated by illness, fatigue, stress, Lethargy OMIM:312170
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Diabetes mellitus OMIM:610947
Rhiny
Anteverted nares, Short nose OMIM:180360
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Ataxia, Exertional dyspnea, Coma, Loss of consciousness, Lethargy ORPHA:42
Hyperlysinuria With Hyperammonemia
Coma, Growth delay, Lethargy OMIM:238750
Asbestos Intoxication
Wheezing, Restrictive ventilatory defect, Hypoxemia, Exertional dyspnea, Dyspnea, Cyanosis, Late ... ORPHA:2302
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Neonatal respiratory distress OMIM:266100
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia OMIM:619099
Maple Syrup Urine Disease
Ataxia, Hypoglycemia, Coma, Lethargy OMIM:248600
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Lethargy ORPHA:26
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Growth delay, Pulmonary arterial hypertension, Cough, Respiratory ... ORPHA:2414
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Short nose, Wide nasal bridge, Anteverted nares, Decreased response to gr... OMIM:616430
Acth Deficiency, Isolated
Fasting hypoglycemia, Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotrop... OMIM:201400
Hemochromatosis, Neonatal
Prolonged neonatal jaundice, Intrauterine growth retardation, Hypoglycemia OMIM:231100
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Hypoglycemic coma, Congenital hypothyroidism, Precocious puberty OMIM:614736
Potocki-Lupski Syndrome
Prominent nasal tip, Small for gestational age, Hypocholesterolemia, Failure to thrive, Hypothyro... OMIM:610883
Combined Oxidative Phosphorylation Deficiency 34
Hypogonadism, Hypoglycemia, Primary adrenal insufficiency OMIM:617872
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Decreased response to growth hormone stimulation test, Lymphocytic intersti... OMIM:245590
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus, Small for gestational age OMIM:618858
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Growth delay, Respiratory distress, Coma, Lethargy ORPHA:289916
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea, Intrauterine growth retardation ORPHA:1832
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Central hypothyroidism, Decreased circulating free T4 level, Inappropriatel... OMIM:301033
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Short nose ORPHA:2015
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia, Failure to thrive OMIM:615863
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Visceral Steatosis, Congenital
Lethargy, Hypoglycemia, Neonatal death, Coma, Jaundice OMIM:228100
Hereditary Central Diabetes Insipidus
Growth delay, Diabetes insipidus, Lethargy ORPHA:30925
Propionic Acidemia
Dystonia, Hypoglycemia, Short stature, Tachypnea, Apnea, Coma, Lethargy OMIM:606054
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Recurrent upper respiratory tract infections, Decreased serum leptin OMIM:614962
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Hypoglycemia, Growth delay, Hypogonadotropic hypogonadism, Pituitary hy... ORPHA:95619
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Focal dystonia, Ataxia, Limb dystonia, Generalized dystonia, Oculogyric crisis, Gai... ORPHA:101150
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Hypoglycemia, Respiratory insufficiency, Intrauterine growth retar... OMIM:245400
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Coma, Hypoglycemia, Lethargy OMIM:201450
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Dystonia, Neonatal respiratory distress, Congenital hypothyroidism, Crackles... OMIM:610978
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Short stature ORPHA:364
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Decreased adiponectin level, Hypertriglyceri... ORPHA:79085
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia OMIM:610768
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Holocarboxylase Synthetase Deficiency
Growth delay, Tachypnea, Respiratory distress, Ataxia, Coma, Lethargy ORPHA:79242
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Respiratory insufficiency, Lethargy ORPHA:28
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Depressed nasal ridge, Short nose ORPHA:1355
Gaucher Disease Type 2
Dystonia, Respiratory distress, Cough, Abnormal pattern of respiration ORPHA:77260
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... OMIM:605814
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Respiratory distress OMIM:614399
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:254210
Carnitine Palmitoyltransferase I Deficiency
Coma, Hypoketotic hypoglycemia, Lethargy OMIM:255120
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Drowsiness, Respiratory distress, Ataxia, Coma, Loss of consciousness, Delirium, Confusion, Lethargy ORPHA:927
2P21 Microdeletion Syndrome
Hypogonadism, Hypoglycemia, Growth delay ORPHA:163693
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Developmental And Epileptic Encephalopathy 73
Failure to thrive, Short nose, Narrow nasal bridge OMIM:618379
Malaria
Respiratory distress, Gait imbalance, Reduced consciousness/confusion ORPHA:673
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Decreased circulating free T3, Growth delay, Thyroid hypoplasia, Pituitary hypothyroidi... ORPHA:99832
Pyruvate Dehydrogenase Deficiency
Gait disturbance, Dystonia, Intrauterine growth retardation, Growth delay, Tachypnea, Ataxia, Dys... ORPHA:765
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy OMIM:617105
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Intrauterine growth retardation, Hyperinsulinemic hypoglycemia, Proport... ORPHA:71212
Pyruvate Dehydrogenase E3 Deficiency
Ataxia, Hypoglycemia, Lethargy ORPHA:2394
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Growth delay, Decreased response to growth hormone stimulation tes... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Growth delay, Decreased response to growth hormone stimulation tes... ORPHA:71526
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress, Ataxia, Coma, Lethargy ORPHA:148
Temple Syndrome
Type II diabetes mellitus, Short stature, Recurrent hypoglycemia, Postnatal growth retardation, D... ORPHA:254516
Perching Syndrome
Respiratory distress OMIM:617055
Thyroid Dyshormonogenesis 1
Hypothyroidism, Growth delay, Goiter, Lethargy OMIM:274400
Mitochondrial Complex I Deficiency, Nuclear Type 19
Athetosis, Gait disturbance, Hypoglycemia, Respiratory insufficiency, Inability to walk OMIM:618241
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Cough, Aspiration, Cyanosis, Dyspnea ORPHA:2004
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Ataxia, Respiratory insufficiency, Lethargy OMIM:614299
Mental Retardation With Language Impairment And With Or Without Autistic Features
Obesity, Failure to thrive in infancy, Short nose, Broad nasal tip OMIM:613670
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Small for gestational age, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Glycogen Storage Disease Ixc
Postnatal growth retardation, Fasting hypoglycemia, Hypoglycemia, Growth delay OMIM:613027
Citrullinemia Type I
Tachypnea, Torticollis, Ataxia, Coma, Loss of consciousness, Lethargy ORPHA:247525
Leukodystrophy, Hypomyelinating, 17
Respiratory distress, Inability to walk, Short stature OMIM:618006
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Dystonia, Hypoglycemia, Short stature, Ataxia, Prolonged neonatal jaundice OMIM:256810
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress, Maternal diabetes ORPHA:45452
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Short stature ORPHA:329249
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Severe short stature, Prematurely aged appeara... ORPHA:633
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency, P... ORPHA:199296
Burn-Mckeown Syndrome
Prominent nasal bridge, Bilateral choanal atresia, Short nose, Wide nasal bridge ORPHA:1200
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Growth delay, Glucose intolerance, Impaired glucose tolerance, Acrocyanosis, Truncal at... OMIM:614407
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Elevated circulating thyroid-stimulating hormone concentration, Decr... ORPHA:95717
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectious pneumonia, Restrict... ORPHA:264675
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Anteverted nares, Short nose, Depressed nasal bridge OMIM:614069
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Postnatal growth retardation, Hypoglycemia, Short stature ORPHA:231137
Leukoencephalopathy With Vanishing White Matter
Gait disturbance, Decreased circulating progesterone, Unsteady gait, Primary gonadal insufficienc... OMIM:603896
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Neonatal hypoglycemia, Coma, Cardiorespiratory arrest, Lethargy OMIM:212138
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Cyanosis, Respiratory failure, Nasal flaring, Atelectasis ORPHA:70587
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Drowsiness, Exertional dyspnea, Cyanosis, Orthopnea, Reduced vita... ORPHA:98913
Propionic Acidemia
Hypoglycemia ORPHA:35
Pyridoxine-Dependent Epilepsy
Neonatal asphyxia, Neonatal respiratory distress, Hypoglycemia ORPHA:3006
3-Methylglutaconic Aciduria Type 4
Hypoglycemia ORPHA:67048
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Short stature OMIM:300580
Glycogen Storage Disease Iii
Hypoglycemia, Short stature OMIM:232400
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... ORPHA:60032
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:605809
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Respiratory distress, Falls, Bradykinesia ORPHA:240085
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Episodic tachypnea OMIM:615160
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis OMIM:267450
Combined Malonic And Methylmalonic Acidemia
Dystonia, Hypoglycemia ORPHA:289504
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Ataxia, Tachypnea, Hypoglycemia OMIM:220111
Bardet-Biedl Syndrome 16
Hypogonadism, Respiratory distress OMIM:615993
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Breathing dysregulation, Lethargy OMIM:618232
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Steatorrhea, Hyperbilirubinemia, Failure to thrive OMIM:607765
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Growth delay, Hypoglycemia, Delayed puberty, Short stature ORPHA:369
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Pneumonia, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defect, Dyspnea OMIM:610910
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Short stature, Hypogonadism, Ataxia, Decreased serum testosterone concentration, Lethargy OMIM:201100
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Cyclic Vomiting Syndrome
Ataxia, Attention deficit hyperactivity disorder, Growth delay, Lethargy OMIM:500007
Silver-Russell Syndrome 2
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia OMIM:618905
Solitary Fibrous Tumor/Hemangiopericytoma
Recurrent hypoglycemia, Hypoinsulinemia, Hypoglycemia, Loss of consciousness ORPHA:2126
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Nonketotic hypoglycemia, Tachypnea, Lethargy OMIM:201475
Pancreatic Agenesis 1
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Diabetes mellitus OMIM:260370
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... OMIM:610913
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, Bronchiectasis, Decreased f... ORPHA:1303
Tenorio Syndrome
Gait disturbance, Hypoglycemia, Pneumonia, Apnea, Hypoinsulinemia OMIM:616260
Severe Canavan Disease
Inability to walk, Lethargy ORPHA:314911
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia, Intrauterine growth retardation, Postnatal growth retardation, Asthma, Hypothyroidi... ORPHA:397590
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Tachypnea, Neonatal death, Apnea, Pulmonary arterial hypertension,... OMIM:265120
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Tachypnea, Parasept... OMIM:610921
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Decreased adiponectin level, Hypertriglyceri... ORPHA:435651
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Postnatal growth retardation, Short stature OMIM:619489
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis, Growth delay OMIM:250800
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Bangstad Syndrome
Intrauterine growth retardation, Short stature, Increased circulating cortisol level, Ataxia, Abn... ORPHA:1227
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Hypoglycemia, Decreased circulating cortisol level OMIM:618838
Familial Thyroid Dyshormonogenesis
Lethargy, Congenital hypothyroidism, Goiter, Increased radioactive iodine uptake, Decreased circu... ORPHA:95716
Malonyl-Coa Decarboxylase Deficiency
Neonatal respiratory distress, Hypoglycemia, Short stature OMIM:248360
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Hypoglycemia OMIM:618958
Dopa-Responsive Dystonia
Dystonia, Gait disturbance, Arm dystonia, Inability to walk, Generalized dystonia, Oculogyric cri... ORPHA:255
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Small for gestational age OMIM:245570
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea, Failure to thrive ORPHA:71
Adenylosuccinate Lyase Deficiency
Anteverted nares, Short nose ORPHA:46
Pituitary Stalk Interruption Syndrome
Hypoglycemia, Diabetes insipidus, Short stature, Abnormality of the hypothalamus-pituitary axis, ... ORPHA:95496
Maxillonasal Dysplasia, Binder Type
Short columella, Short nose, Depressed nasal bridge OMIM:155050
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Respiratory distress, Coma, Lethargy ORPHA:79312
Succinic Acidemia
Respiratory distress OMIM:600335
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Neonatal death, Glycosuria, Respiratory distress, Hypoglycemic coma, Jaundice OMIM:231680
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis OMIM:619466
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Diabetes mellitus, Insulin resistance ORPHA:79084
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Intrauterine growth retardation,... ORPHA:2257
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Congenital Laryngeal Web
Respiratory distress, Stridor, Short stature ORPHA:2374
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Reduced subcutaneous adipose tissue, Hyperactivity, Ataxia, Respiratory failu... ORPHA:363400
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose ORPHA:1450
Crigler-Najjar Syndrome
Jaundice, Lethargy ORPHA:205
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:254875
Benign Samaritan Congenital Myopathy
Abnormal respiratory system physiology, Lethargy ORPHA:324581
Galactosemia
Dystonia, Gait disturbance, Gait imbalance, Decreased serum insulin-like growth factor 1, Jaundic... ORPHA:352
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy OMIM:201470
Combined Oxidative Phosphorylation Deficiency 40
Intrauterine growth retardation, Neonatal death, Hypoglycemia, Decreased circulating cortisol level OMIM:618835
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Combined Oxidative Phosphorylation Deficiency 42
Intrauterine growth retardation, Neonatal death, Hypoglycemia, Decreased circulating cortisol level OMIM:618839
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis, Apnea, Lethargy ORPHA:391673
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypoglycemia, Intrauterine growth retardation, Severe postnatal growth retardation, Dorsocervical... ORPHA:391408
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus at puberty, Reduc... ORPHA:280356
Pleural Mesothelioma
Abnormal respiratory system physiology, Cough, Respiratory distress, Dyspnea, Pleural effusion ORPHA:50251
Thyroid Lymphoma
Stridor, Goiter, Upper airway obstruction, Respiratory distress, Hyperthyroidism, Hypothyroidism,... ORPHA:97285
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Intrauterine growth retardation, Growth delay, Short stature, Recurrent hypoglycemia, Truncal ata... OMIM:616817
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Hypoketotic hypoglycemia, Respiratory insufficiency, Lethargy OMIM:609015
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Hypocholesterolemia, Elevated circulating creatine kinase concentration, Abet... ORPHA:96180
Lipe-Related Familial Partial Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Elevated circulating creatine kinase concent... ORPHA:435660
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypoketotic hypoglycemia, Respiratory insufficiency, Coma, Tip-toe gait, Resp... ORPHA:746
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Hyperglycemia, Apnea, Reduced subcutaneous adipose tissue, Diabetes mellitus OMIM:609069
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Anteverted nares, Wide nasal bridge OMIM:618810
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Pneumonia, Tachypnea, Episodic tachypnea, Jaundice, Respiratory distres... ORPHA:26793
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Acute Interstitial Pneumonia
Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Cyanosis, Decreased DLCO, Nonproductive cough, Re... ORPHA:79126
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Dystonia, Inability to walk, Hypoglycemia OMIM:614739
Blue Diaper Syndrome
Recurrent hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Increased... ORPHA:94086
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Gait disturbance, Ataxia, Lethargy OMIM:615838
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Hypoglycemia, Abnormal response to ACTH stimulation test, Recurren... OMIM:615577
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Intrauterine growth retardation OMIM:615597
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Short stature, Hypoglycemia, Diabetes mellitus, Glycosuria OMIM:616026
Cholera
Hypoglycemia, Palmoplantar cutis laxa, Tachypnea, Loss of consciousness, Hyperventilation, Aspira... ORPHA:173
Galactokinase Deficiency
Neonatal asphyxia, Hypoglycemia, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:79237
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Respiratory distress, Erythema, Upper airway obstruction ORPHA:100057
Hsd10 Disease, Infantile Type
Loss of ability to walk, Dystonia, Cyanosis, Hypoglycemia ORPHA:391428
Myxedema
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Goiter, Lethargy OMIM:255900
Clark-Baraitser Syndrome
Obesity, Short nose, Depressed nasal bridge OMIM:617752
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
Typhoid
Epistaxis, Cough, Ataxia, Coma, Lethargy ORPHA:99745
Combined Oxidative Phosphorylation Deficiency 2
Lethargy OMIM:610498
Hereditary Fructose Intolerance
Lethargy, Growth delay, Reactive hypoglycemia, Coma, Jaundice ORPHA:469
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Athetosis, Dystonia, Hypoglycemia, Intrauterine growth retardation, Dysmetria, Ataxia OMIM:617710
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Pulmonary arterial hypertension, Growth delay, Lethargy OMIM:614857
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Tachypnea, Cough, Excessive daytime somnolence, Ataxia, Coma, Reduce... ORPHA:134
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Short stature ORPHA:436174
Non-Distal Trisomy 10Q
Convex nasal ridge, Short nose, Depressed nasal bridge ORPHA:1695
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Obesity, Short nose, Wide nasal bridge OMIM:611936
Familial Nasal Acilia
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Dyspnea, Atelectasis ORPHA:922
Donohue Syndrome
Fasting hypoglycemia, Intrauterine growth retardation, Hyperglycemia, Precocious puberty, Pancrea... OMIM:246200
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
3-Hydroxy-3-Methylglutaric Aciduria
Tachypnea, Apnea, Recurrent hypoglycemia, Ataxia, Coma, Jaundice, Nonketotic hypoglycemia, Hypogl... ORPHA:20
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Respiratory distres... ORPHA:411703
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Thyroid hypoplasia, Decreased circulating follicle stimulating hormone concentratio... ORPHA:226307
Pyridoxal Phosphate-Responsive Seizures
Unsteady gait, Hypoglycemia ORPHA:79096
Nipah Virus Disease
Respiratory distress, Cough, Coma ORPHA:99825
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Postnatal growth retardation, Intrauterine growth retardation OMIM:616733
Folinic Acid-Responsive Seizures
Dystonia, Apnea, Respiratory distress, Ataxia, Broad-based gait, Difficulty walking ORPHA:79097
Scrub Typhus
Cough, Reduced consciousness/confusion, Restrictive ventilatory defect, Dyspnea, Lethargy ORPHA:83317
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Dihydropyrimidinase Deficiency
Growth delay, Excessive daytime somnolence, Lethargy OMIM:222748
Central Diabetes Insipidus
Diabetes insipidus, Excessive daytime somnolence, Lethargy ORPHA:178029
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Lethargy OMIM:602390
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Failure to thrive, Short nose, Decreased serum iron, Prominent nasolabial fold, ... ORPHA:391372
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Respiratory insufficiency, Coma, Lethargy ORPHA:27
Isolated Complex I Deficiency
Hypoglycemia, Respiratory insufficiency, Intrauterine growth retardation, Ataxia, Diabetes mellit... ORPHA:2609
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Pierpont Syndrome
Broad nasal tip, Failure to thrive, Wide nose, Short nose, Decreased body weight OMIM:602342
Cog8-Cdg
Ataxia, Hypoglycemia, Spontaneous hematomas ORPHA:95428
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Depressed nasal bridge ORPHA:438178
Timothy Syndrome
Pneumonia, Hypoglycemia, Hypothyroidism OMIM:601005
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose, Truncal obesity ORPHA:2429
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Coma, Hypoglycemia, Lethargy OMIM:210210
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Gait disturbance, Lethargy OMIM:236270
Meningococcal Meningitis
Neonatal respiratory distress, Drowsiness, Petechiae, Purpura, Reduced consciousness/confusion, L... ORPHA:33475
Congenital Myasthenic Syndrome
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... ORPHA:98914
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Respiratory insufficiency, Apnea, Respiratory distress, Respiratory failure, Nonketotic hypoglyce... OMIM:608836
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Depressed nasal bridge, Hypocholesterolemia, Failure to thrive, Hypothyroidism, ... OMIM:212065
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Anteverted nares, Short nose, Depressed nasal bridge OMIM:613443
Primary Dystonia, Dyt4 Type
Gait disturbance, Torticollis, Laryngeal dystonia, Respiratory distress, Dysdiadochokinesis, Gene... ORPHA:98805
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Anteverted nares, Short nose, Depressed nasal bridge, Hypothyroidism OMIM:613038
Choanal Atresia
Chronic sinusitis, Upper airway obstruction, Respiratory distress, Cyanosis, Abnormal nasal mucus... ORPHA:137914
Central Neurocytoma
Ataxia, Coma, Lethargy ORPHA:73256
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Failure to thrive, Short nose, Depressed nasal bridge, Broad columella OMIM:617865
Anaplastic Thyroid Carcinoma
Stridor, Goiter, Anaplastic thyroid carcinoma, Nodular goiter, Cough, Upper airway obstruction, R... ORPHA:142
Simpson-Golabi-Behmel Syndrome, Type 2
Wide nose, Short nose, Recurrent upper respiratory tract infections, Anteverted nares, Obesity OMIM:300209
Hereditary Methemoglobinemia
Athetosis, Exertional dyspnea, Cyanosis, Limb dystonia ORPHA:621
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Focal dystonia, Bradykinesia ORPHA:240103
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Depressed nasal bridge, Short nose, Diabetes mellitus, Anteverted nare... OMIM:614613
Spinocerebellar Ataxia, X-Linked 3
Dysmetria, Episodic hypoventilation, Episodic respiratory distress, Lethargy OMIM:301790
Ohdo Syndrome
Anteverted nares, Short nose, Depressed nasal bridge, Wide nasal bridge OMIM:249620
Oromandibular Dystonia
Lingual dystonia, Torticollis, Laryngeal dystonia, Respiratory distress, Generalized dystonia, Bl... ORPHA:93958
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia, Depressed nasal bridge, Short nose, Adrenal hypoplasia, Decreased response to grow... OMIM:614732
Methylcobalamin Deficiency Type Cble
Drowsiness, Intrauterine growth retardation, Excessive daytime somnolence, Postnatal growth retar... ORPHA:2169
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Crackles, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defect, Dyspnea ORPHA:747
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Dyspnea ORPHA:178320
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Short stature ORPHA:66518
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Coma, Hypoglycemia, Excessive daytime somnolence OMIM:246450
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Short nose, Wide nasal bridge OMIM:601224
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Lethargy, Hyperglycemia, Hypogonadotropic hypogonadism, Diabetes mellitus, Hy... ORPHA:465508
Baker-Gordon Syndrome
Prominent nasal tip, Short nose OMIM:618218
Pituitary Apoplexy
Increased circulating prolactin concentration, Hypoglycemia, Hypergonadotropic hypogonadism, Incr... ORPHA:95613
Encephalopathy, Recurrent, Of Childhood
Athetosis, Truncal ataxia, Lethargy OMIM:130950
Chung-Jansen Syndrome
Anteverted nares, Obesity, Short nose OMIM:617991
14Q11.2 Microdeletion Syndrome
Short nose, Depressed nasal bridge ORPHA:261120
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short nose, Hypogonadism, Short nasal septum, Anosmia OMIM:302950
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypoglycemia, Hypogonadism, Ataxia, Hypothyroidism OMIM:617575
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Intrauterine growth retardation, Severe... ORPHA:769
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cough, Respiratory distress, Waddling gait, Dyspnea, Difficulty walking ORPHA:86812
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Lethargy OMIM:619064
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperglycemia, Reduced subcutaneous adipo... OMIM:604367
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress OMIM:604377
Multiple Endocrine Neoplasia, Type I
Adrenocortical adenoma, Hypoglycemia, Increased circulating cortisol level, Insulinoma, Thyroid a... OMIM:131100
Dengue Fever
Petechiae, Epistaxis, Cardiorespiratory arrest, Bruising susceptibility, Lethargy ORPHA:99828
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cortisol level OMIM:600955
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Short nose, Depressed nasal bridge ORPHA:1529
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Type II diabetes mellitus, Abnormality ... ORPHA:2298
Genetic Transient Congenital Hypothyroidism
Goiter, Thyroid hypoplasia, Decreased circulating T4 level, Elevated circulating thyroid-stimulat... ORPHA:226316
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Short nose ORPHA:1906
Sim1-Related Prader-Willi-Like Syndrome
Lethargy, Central hypothyroidism, Type II diabetes mellitus, Obstructive sleep apnea, Premature a... ORPHA:398079
Late-Onset Isolated Acth Deficiency
Lethargy, Hypoparathyroidism, Hypoglycemia, Decreased circulating ACTH level, Pituitary adenoma, ... ORPHA:199299
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Growth delay OMIM:231530
Complete Atrioventricular Septal Defect
Wheezing, Crackles, Tachypnea, Elevated pulmonary artery pressure, Pulmonary venous hypertension,... ORPHA:1329
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Congenital hypothyroidism, Thyroid hypoplasi... ORPHA:90673
Mental Retardation, Autosomal Dominant 35
Hypoglycemia OMIM:616355
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Cholestasis, Progressive Familial Intrahepatic, 5
Jaundice, Hypoglycemia, Pleural effusion OMIM:617049
X-Linked Centronuclear Myopathy
Respiratory distress, Inability to walk, Respiratory failure requiring assisted ventilation, Pneu... ORPHA:596
Perlman Syndrome
Anteverted nares, Wide nasal bridge, Short nose, Hyperinsulinemia ORPHA:2849
Maxillonasal Dysplasia
Depressed nasal ridge, Depressed nasal bridge, Short nose, Short columella, Abnormality of the nares ORPHA:1248
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Short nose ORPHA:1389
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Hypoglycemia, Hyperactive renin-angiotensin system, Pneumonia, Jaundice, Abn... ORPHA:90790
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Pseudo-Torch Syndrome 2
Respiratory insufficiency, Petechiae, Lethargy OMIM:617397
Holocarboxylase Synthetase Deficiency
Tachypnea, Coma, Hyperventilation, Lethargy OMIM:253270
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypoglycemia, Respiratory insufficiency, Growth delay, Apnea, Ataxia, Coma, Cyanosis, Respiratory... OMIM:252010
Ogden Syndrome
Torticollis, Shuffling gait, Excessive daytime somnolence, Postnatal growth retardation, Lethargy ORPHA:276432
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Rhinitis, Dyspnea, Hyperinsulinemia ORPHA:230
Mercury Poisoning
Dystonia, Interstitial pneumonitis, Respiratory distress, Loss of consciousness, Respiratory fail... ORPHA:330021
Peho-Like Syndrome
Short nose OMIM:617507
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge OMIM:200130
Susac Syndrome
Gait ataxia, Confusion, Lethargy ORPHA:838
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Intrauterine growth retardation, Growth delay, Pulmonary arterial hypertension, Jau... ORPHA:79282
Smith-Magenis Syndrome
Failure to thrive in infancy, Depressed nasal bridge, Short nose, Wide nasal bridge, Hypercholest... ORPHA:819
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Growth delay, Goiter, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thyroid-s... ORPHA:90674
Slc35A1-Cdg
Hypoxemia, Respiratory distress, Pneumonia, Subcutaneous hemorrhage ORPHA:238459
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Abnormal size of pituitary gland, Bronchiectasis, D... ORPHA:293978
17P13.3 Microduplication Syndrome
Wide nose, Short nose ORPHA:217385
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Short stature, Hypergonadotropic hypogonadism ORPHA:3085
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose ORPHA:2370
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Exertional dyspnea, Elevated pulmonary artery pressure, Cyanosis, Decreased DLCO, Hemo... ORPHA:199241
Edinburgh Malformation Syndrome
Failure to thrive, Anteverted nares, Choanal atresia, Short nose ORPHA:1895
Acrocephalopolydactyly
Depressed nasal ridge, Short nose ORPHA:221054
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Delayed puberty ORPHA:2598
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Histiocytoid Cardiomyopathy
Drowsiness, Hypoglycemia, Tachypnea, Cough, Cyanosis, Loss of consciousness, Lethargy ORPHA:137675
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Congenital hypothyroidism, Goiter, Decreased circulating T4 level, Elevated circulating thyroid-s... ORPHA:226313
Acromicric Dysplasia
Bulbous nose, Anteverted nares, Short nose ORPHA:969
Magel2-Related Prader-Willi-Like Syndrome
Lethargy, Central hypothyroidism, Type II diabetes mellitus, Obstructive sleep apnea, Short statu... ORPHA:398069
Alg12-Cdg
Hyponatremia, Decreased serum insulin-like growth factor 1, Hypocholesterolemia, Failure to thriv... ORPHA:79324
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Kaufman Oculocerebrofacial Syndrome
Depressed nasal bridge, Hypocholesterolemia, Failure to thrive, Short nose, Anteverted nares OMIM:244450
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Citrullinemia Type Ii
Drowsiness, Delirium, Hyperactivity, Coma, Fluctuations in consciousness, Delayed menarche, Confu... ORPHA:247585
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Lethargy, Ataxia, Coma, Episodic ataxia OMIM:311250
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Cyanosis, Paroxysmal dyspnea, Stridor ORPHA:444013
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test, Postnatal growth re... OMIM:615925
Isovaleric Acidemia
Coma, Lethargy OMIM:243500
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypoglycemia ORPHA:5
Congenitally Uncorrected Transposition Of The Great Arteries
Tachypnea, Hypoxemia, Cyanosis, Maternal diabetes ORPHA:860
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose OMIM:617061
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Lethargy OMIM:233910
Brain-Lung-Thyroid Syndrome
Dystonia, Hypoparathyroidism, Neonatal respiratory distress, Congenital hypothyroidism, Growth de... ORPHA:209905
Facial Paresis, Hereditary Congenital, 3
Anteverted nares, Short nose, Depressed nasal bridge OMIM:614744
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Neonatal hypoglycemia OMIM:261740
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Ataxia, Neonatal hypoglycemia OMIM:619046
Jaberi-Elahi Syndrome