| 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 |
|
Type I diabetes mellitus, 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 |
|
Type I diabetes mellitus, 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 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Acid-Labile Subunit Deficiency |
|
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Delayed puberty, Mild postna... |
OMIM:615961 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Severe short stature, Hypoglycemia, Reduced circulating growth hormone concentration, Prolonged n... |
OMIM:262400 |
| Short Stature Due To Partial Ghr Deficiency |
|
Short stature, Hypoglycemia, Delayed puberty, Growth delay, Decreased serum insulin-like growth f... |
ORPHA:314802 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy... |
ORPHA:293964 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Short stature, Severe postnatal growth retardation, Pituitary dwarfism, Hy... |
OMIM:262700 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus |
OMIM:613375 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Coma, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, ... |
ORPHA:263458 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic coma, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
| Short Stature Due To Ghsr Deficiency |
|
Short stature, Hypoglycemia, Delayed puberty, Growth delay, Decreased serum insulin-like growth f... |
ORPHA:314811 |
| Cholesterol Pneumonia |
|
Pneumonia, Cough, Tachypnea |
OMIM:215030 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hypoglycemic coma, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia, Intrauterine growth retardation, Severe short stature |
OMIM:223500 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Coma, Drowsiness, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Aspirat... |
ORPHA:90117 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Coma, Hypoketotic hypoglycemia, Fasting... |
ORPHA:79299 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the young, Ketotic hy... |
ORPHA:324575 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Hypoglycemia, Hypogonadism, Postnatal growth retardation, Central hypothyroidism |
OMIM:616113 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic coma, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Coma, Hypoketotic hypoglycemia, Reactive hypogly... |
ORPHA:276608 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Short stature, Decreased circulating free T3, Increas... |
ORPHA:171706 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276580 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic coma, Hyperinsulinemic hypoglycemia, Hypoglycemic... |
OMIM:256450 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:614373 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276575 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... |
ORPHA:276556 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Growth delay, Lethargy, ... |
OMIM:618573 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Short stature |
ORPHA:366 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Decreased DLCO, Ta... |
OMIM:300770 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
| Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
| Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Intrauterine growth retardation, Respiratory distress, Lethargy |
ORPHA:26792 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... |
ORPHA:91359 |
| Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Resp... |
OMIM:605253 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Apneic episodes in infancy, Lethargy |
OMIM:610006 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia |
OMIM:240900 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
| Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Postnatal growth retardation |
OMIM:232700 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Joubert Syndrome 23 |
|
Apnea, Tachypnea |
OMIM:616490 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia, Growth delay |
OMIM:616111 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Mitchell Syndrome |
|
Respiratory insufficiency due to muscle weakness, Sensory axonal neuropathy, Abnormal autonomic n... |
OMIM:618960 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Decreased DLCO, Cough, Tachypnea, Restrictive ventilatory defect, Dyspnea |
OMIM:616414 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Acute infectious pneumonia, Respiratory failure requiring assiste... |
ORPHA:264675 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Cough, Tachypnea |
OMIM:263000 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Insulinoma |
|
Fluctuations in consciousness, Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyper... |
ORPHA:97279 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
| Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis |
OMIM:219400 |
| Apnea, Central Sleep |
|
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration |
OMIM:207720 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Confusion, Acute infectious pneumonia... |
ORPHA:36238 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Coma |
ORPHA:67046 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic coma, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:606762 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... |
ORPHA:60032 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Apnea, Coma, Hypoglycemia, Hyperventilation, Dyspnea, Lethargy |
OMIM:229700 |
| Riboflavin Deficiency |
|
Hypoglycemia, Lethargy |
OMIM:615026 |
| Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Apnea, Cyanosis, Hypoglycemia, Adrenal hypoplasia |
OMIM:240200 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Short stature, Ketotic hypoglycemia, Glycosuria, Lethargy |
ORPHA:2089 |
| Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Short stature, Hypoglycemia, Hypogonadism, Insulin resistance, Diabete... |
ORPHA:181393 |
| Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Coma, Short stature, Hypoglycemia, Adrenocortical hypoplasia, Growth delay... |
OMIM:307030 |
| Infantile-Onset Spinocerebellar Ataxia |
|
Optic atrophy, Abnormality of the autonomic nervous system |
ORPHA:1186 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
| Neonatal Hemochromatosis |
|
Hypoglycemia, Prolonged neonatal jaundice |
ORPHA:446 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
| Carnitine Deficiency, Systemic Primary |
|
Coma, Confusion, Hypoglycemia, Impaired gluconeogenesis, Excessive daytime somnolence, Recurrent ... |
OMIM:212140 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
| Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
| Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Reduced circulating prolactin concentration, Short stature, Panhypopituita... |
OMIM:262600 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypoglycemia, Lethargy |
OMIM:246900 |
| Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
| Aganglionosis, Total Intestinal |
|
Total intestinal aganglionosis |
OMIM:202550 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
| Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Short stature, Diabetic ketoaci... |
OMIM:262190 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Confusion, Lethargy, Central apnea |
ORPHA:71277 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Coma, Lethargy, Confusion |
OMIM:237310 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Jaundice, Lethargy |
OMIM:616483 |
| Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
| Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin... |
ORPHA:552 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Abnormal autonomic nervous system physiology |
OMIM:156310 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Apnea, Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increase... |
ORPHA:79644 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure, Lethargy |
OMIM:605711 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Adrenal insufficiency, Respiratory failure, Lethargy |
OMIM:619386 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
| Obesity-Hypoventilation Syndrome |
|
Excessive daytime somnolence, Cyanosis, Hypoventilation |
OMIM:257500 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia, Respiratory distress |
OMIM:614741 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Postnatal growth retardation, Neonatal hypoglycemia, Short stature |
ORPHA:231140 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Acrocyanosis |
OMIM:302000 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoglycemia, Intrauterine growth retardation, Jaundice |
OMIM:617156 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Respiratory insufficiency, Lethargy |
OMIM:618224 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Coma, Hypoketotic hypoglycemia, Glycosuria, Neon... |
ORPHA:263455 |
| Phosphoserine Aminotransferase Deficiency |
|
Apnea, Cyanotic episode |
OMIM:610992 |
| Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis, Short stature |
ORPHA:2901 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Coma, Cyanosis, Confusion, Drowsiness, Hypoxemia, Dyspnea, Loss of consciou... |
ORPHA:464453 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Respiratory arrest, Lethargy |
OMIM:600649 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Lethargy, Short stature |
OMIM:618120 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Coma, Episodic tachypnea, Neonatal hypoglycemia, Apneic episodes in infancy... |
ORPHA:348 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Respiratory insufficiency |
ORPHA:6 |
| Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
| Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
| Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Hypogonadism, Lethargy, Diabetes mellitus |
ORPHA:79230 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea, Cyanosis, Hypoglycemia, Impaired gluconeogenesis, Fasting hypoglycemia |
OMIM:261680 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Cyanosis, Crackles, Wheezing, Pneumothorax, Cough, Res... |
ORPHA:1302 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Lethargy, Tachypnea |
OMIM:615751 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis, Lethargy, Cough |
ORPHA:163703 |
| Breath-Holding Spells |
|
Cyanosis, Loss of consciousness |
OMIM:607578 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Abnormal respiratory system physiology, Chronic lung disease, ... |
ORPHA:70589 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypoglycemia, Coma, Lethargy, Loss of consciousness |
ORPHA:156 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Aspiration pneumonia, Maternal diabetes, Wheezing, Pneumothorax, Hypoxemia,... |
ORPHA:70588 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Lethargy, Diabetes mellitus |
ORPHA:49827 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress, Delirium, Type I diabetes mellitus |
ORPHA:2596 |
| Glut1 Deficiency Syndrome 1 |
|
Confusion, Paroxysmal lethargy, Lethargy |
OMIM:606777 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Interstitial pneumonitis, Chronic lung disease, Tachypnea, Spontaneous neonatal pneumothorax, Neo... |
ORPHA:217563 |
| Glucocorticoid Deficiency 1 |
|
Coma, Decreased circulating cortisol level, Increased circulating ACTH level, Abnormal response t... |
OMIM:202200 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hypoglycemia, Apnea, Intrauterine growth retardation |
OMIM:619048 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia |
OMIM:610090 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia, Intrauterine growth retardation |
ORPHA:231147 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Respiratory insufficiency, Intrauterine growth retardation |
OMIM:618253 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Coma, Hypoketotic hypoglycemia, Cyanosis, Respiratory insufficiency, Fasting hypoglycemia, Sudden... |
ORPHA:159 |
| Endocardial Fibroelastosis |
|
Hypoglycemia, Anterior hypopituitarism |
ORPHA:2022 |
| Lethal Infantile Mitochondrial Myopathy |
|
Neonatal respiratory distress, Lethargy |
ORPHA:254857 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Hypoglycemia, Apnea, Coma, Lethargy |
OMIM:210200 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Respiratory insufficiency, Lethargy |
OMIM:618228 |
| Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level |
OMIM:607398 |
| Evans Syndrome |
|
Petechiae, Bruising susceptibility, Epistaxis, Dyspnea, Jaundice, Lethargy |
ORPHA:1959 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Growth de... |
ORPHA:2414 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age |
OMIM:618858 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Confusion, Lethargy |
OMIM:617900 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for... |
OMIM:610913 |
| Acute Lung Injury |
|
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:178320 |
| Joubert Syndrome 30 |
|
Apnea, Tachypnea |
OMIM:617622 |
| Developmental And Epileptic Encephalopathy 40 |
|
Intrauterine growth retardation, Lethargy |
OMIM:617065 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Apnea, Lethargy |
OMIM:618225 |
| Joubert Syndrome 7 |
|
Neonatal breathing dysregulation, Central apnea, Episodic tachypnea, Tachypnea |
OMIM:611560 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy |
ORPHA:79283 |
| Hyperlysinuria With Hyperammonemia |
|
Growth delay, Coma, Lethargy |
OMIM:238750 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| Mehmo Syndrome |
|
Decreased response to growth hormone stimulation test, Birth length less than 3rd percentile, Hyp... |
OMIM:300148 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Short stature, Delayed puberty, Delayed thelarche, Dorsocervical f... |
OMIM:616033 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypoglycemia, Primary adrenal insufficiency, Hypogonadism |
OMIM:617872 |
| Hemochromatosis, Neonatal |
|
Hypoglycemia, Intrauterine growth retardation, Prolonged neonatal jaundice |
OMIM:231100 |
| Acth Deficiency, Isolated |
|
Adrenocorticotropic hormone deficiency, Decreased circulating cortisol level, Adrenal hypoplasia,... |
OMIM:201400 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Lethargy |
OMIM:274270 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Decreased nerve conduction velocity, Axonal degeneration, Degeneration of anterior horn cells, Pe... |
OMIM:604320 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Precocious puberty, Hypoglycemic coma, Congenital hypothyroidism |
OMIM:614736 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Coma, Hypoglycemia, Exertional dyspnea, Lethargy, Loss of consciousness |
ORPHA:42 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Confusion, Lethargy |
OMIM:613002 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Intrauterine growth retardation, Respiratory failure |
ORPHA:1832 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance |
OMIM:610947 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Stillbirth, Neonatal death, Pulmonary arterial hypertension, Intrauterine g... |
OMIM:619751 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hypoglycemia, Coma, Lethargy |
OMIM:201450 |
| Hereditary Central Diabetes Insipidus |
|
Growth delay, Lethargy, Diabetes insipidus |
ORPHA:30925 |
| Tetanus |
|
Autonomic bladder dysfunction, Respiratory distress, Abnormal autonomic nervous system physiology... |
ORPHA:3299 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar vermis atrophy, Abnormal autonomic nervous system physiology, Cough, Decreased distal ... |
OMIM:614575 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
| Visceral Steatosis, Congenital |
|
Coma, Neonatal death, Hypoglycemia, Jaundice, Lethargy |
OMIM:228100 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy |
ORPHA:622 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy |
OMIM:618683 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Intrauterine growth retardation, Respiratory insufficiency, Neonatal death, Hypoglycemia, Neonata... |
OMIM:245400 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Short stature |
ORPHA:364 |
| Asbestos Intoxication |
|
Oxygen desaturation on exertion, Reduced vital capacity, Nonproductive cough, Cyanosis, Reduced f... |
ORPHA:2302 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
| Propionic Acidemia |
|
Apnea, Coma, Short stature, Tachypnea, Hypoglycemia, Lethargy |
OMIM:606054 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
| Post-Traumatic Pituitary Deficiency |
|
Growth delay, Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hy... |
ORPHA:95619 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Respiratory insufficiency |
OMIM:618241 |
| Maple Syrup Urine Disease |
|
Hypoglycemia, Coma, Lethargy |
OMIM:248600 |
| Shashi-Pena Syndrome |
|
Hypoglycemia |
OMIM:617190 |
| Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ventilatory defect, Ne... |
ORPHA:2257 |
| Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Respiratory insufficiency, Coma, Lethargy |
ORPHA:28 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Coma, Lethargy |
OMIM:255120 |
| 2P21 Microdeletion Syndrome |
|
Hypoglycemia, Growth delay, Hypogonadism |
ORPHA:163693 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hypoglycemia, Coma, Respiratory distress, Lethargy |
OMIM:251000 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Growth delay, Decreased circulating T4 concentration, Reduced circulating prolactin concentration... |
ORPHA:99832 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor |
ORPHA:2004 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Confusion, Fasting hyperinsulinemia, Hyp... |
ORPHA:71212 |
| Glycogen Storage Disease Ixc |
|
Hypoglycemia, Postnatal growth retardation, Growth delay, Fasting hypoglycemia |
OMIM:613027 |
| Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
| Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Growth delay, Goiter, Lethargy |
OMIM:274400 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Coma, Neonatal hypoglycemia, Hypoglycemia, Cardiorespiratory arrest, Lethargy |
OMIM:212138 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Short stature |
ORPHA:329249 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central ad... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central ad... |
ORPHA:71526 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy |
ORPHA:26 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Premature skin wrinkling |
OMIM:617950 |
| Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:605543 |
| Temple Syndrome |
|
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
| Classic Galactosemia |
|
Hypoglycemia, Delayed puberty, Jaundice, Decreased serum insulin-like growth factor 1, Lethargy |
ORPHA:79239 |
| Laron Syndrome |
|
Abnormality of the endocrine system, Prematurely aged appearance, Severe short stature, Hypoglyce... |
ORPHA:633 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Hypogonadotropic hypogonadism, Intrauterine growth retardation, Short stature |
ORPHA:48431 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Apnea, Respiratory insufficiency, Lethargy |
OMIM:618226 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Tachypnea, Neonatal respiratory distress, Dyspnea, Pulmonary arterial hypertension, Respir... |
OMIM:265120 |
| Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Growth delay, Coma, Lethargy |
ORPHA:289916 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia, Severe short stature, Decreased respons... |
OMIM:245590 |
| Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:95717 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Hypoglycemia, Postnatal growth retardation, Short stature |
ORPHA:231137 |
| Congenital Isolated Acth Deficiency |
|
Prolonged neonatal jaundice, Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycem... |
ORPHA:199296 |
| Multiple Carboxylase Deficiency |
|
Optic atrophy, Respiratory distress, Tachypnea |
ORPHA:148 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Coma, Delirium, Confusion, Drowsiness, Lethargy, Loss of consciousness |
ORPHA:927 |
| Hirschsprung Disease, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:600155 |
| Hirschsprung Disease, Susceptibility To, 5 |
|
Aganglionic megacolon |
OMIM:600156 |
| Hirschsprung Disease, Susceptibility To, 3 |
|
Aganglionic megacolon |
OMIM:613711 |
| Hirschsprung Disease, Susceptibility To, 4 |
|
Aganglionic megacolon |
OMIM:613712 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Reduced vital capacity, Cyanosis, Orthopnea, Drowsiness, Restrictive ventilatory defect, Exertion... |
ORPHA:98913 |
| Obesity Due To Sim1 Deficiency |
|
Abnormal autonomic nervous system physiology, Postural hypotension with compensatory tachycardia |
ORPHA:369873 |
| Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Severe intrauterine growth retardation, Short stature, Severe postnatal growth retardation, Hypog... |
ORPHA:73272 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Short stature |
OMIM:300580 |
| Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia, Neonatal asphyxia, Neonatal respiratory distress |
ORPHA:3006 |
| Glycogen Storage Disease Iii |
|
Hypoglycemia, Short stature |
OMIM:232400 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia, Neonatal respiratory distress, Short stature |
OMIM:248360 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Coma, Tachypnea, Growth delay, Lethargy |
ORPHA:79242 |
| Propionic Acidemia |
|
Hypoglycemia |
ORPHA:35 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Crackles, Wheezing, Tac... |
OMIM:610978 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia |
ORPHA:67048 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hypoglycemia, Lethargy |
ORPHA:2394 |
| Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
| Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervous system p... |
OMIM:252320 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia |
ORPHA:79159 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypoglycemia, Growth delay, Delayed puberty, Short stature |
ORPHA:369 |
| Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
| Glycine Encephalopathy |
|
Lethargy |
OMIM:605899 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Episodic tachypnea |
OMIM:615160 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Respiratory failure, Lethargy |
OMIM:614299 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Respiratory arrest, Lethargy, Tachypnea |
OMIM:201475 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia |
OMIM:614702 |
| Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Hyperventilation, Abnormal autonomic nervous system physiology |
OMIM:617903 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Decreased DLCO, Cough, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Dyspnea |
OMIM:610910 |
| Developmental And Epileptic Encephalopathy 41 |
|
Lethargy |
OMIM:617105 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Hypogonadism |
OMIM:615993 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia, Intrauterine growth retardation, Short stature |
OMIM:618905 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Breathing dysregulation, Hypoventilation, Lethargy |
OMIM:618232 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Recurrent hypoglycemia, Hypoinsulinemia, Loss of consciousness |
ORPHA:2126 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Malaria |
|
Respiratory distress, Reduced consciousness/confusion |
ORPHA:673 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Growth delay |
OMIM:306000 |
| Acute Interstitial Pneumonia |
|
Hypoxemia, Nonproductive cough, Crackles, Decreased DLCO, Tachypnea, Pleural effusion, Bronchiect... |
ORPHA:79126 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Hypoxemia, Tachypnea, Cough, Neonatal respiratory distress, Nonspeci... |
OMIM:610921 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Growth delay, Cyanosis, Exertional dyspnea |
OMIM:250800 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... |
ORPHA:1303 |
| Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:95716 |
| Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea |
OMIM:616501 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Atrophy/Degeneration affecting the brainstem, Tachypnea, Optic disc pallor, Cerebellar atrophy, R... |
OMIM:615838 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Sleep apnea, Abnormal pattern of respiration, Abnormal autonomic nervous system physiology |
ORPHA:168593 |
| Avian Influenza |
|
Respiratory distress, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productive cough, Pneu... |
ORPHA:454836 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Hypoglycemia, Intrauterine growth retardation |
OMIM:618958 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
| Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Intrauterine growth retardation, Decreased circulating cortisol level |
OMIM:618838 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Lethargy |
OMIM:610498 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pallor of dorsal columns of t... |
OMIM:602433 |
| Short Stature, Dauber-Argente Type |
|
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature |
OMIM:619489 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Diabetes mellitus |
ORPHA:79084 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
| Pituitary Stalk Interruption Syndrome |
|
Short stature, Abnormality of the hypothalamus-pituitary axis, Hypoglycemia, Adrenal hypoplasia, ... |
ORPHA:95496 |
| Benign Samaritan Congenital Myopathy |
|
Abnormal respiratory system physiology, Lethargy |
ORPHA:324581 |
| Joubert Syndrome With Oculorenal Defect |
|
Apnea, Tachypnea, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Aganglionic megacolon |
ORPHA:2318 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor, Short stature |
ORPHA:2374 |
| Leukoencephalopathy With Vanishing White Matter |
|
Decreased circulating progesterone, Lethargy, Primary gonadal insufficiency |
OMIM:603896 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy |
OMIM:201470 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
| Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
| Crigler-Najjar Syndrome |
|
Jaundice, Lethargy |
ORPHA:205 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Glycosuria, Neonatal death, Hypoglycemia, Hypoglycemic coma, Jaundice |
OMIM:231680 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
| Citrullinemia Type I |
|
Coma, Tachypnea, Lethargy, Loss of consciousness |
ORPHA:247525 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormal motor neuron morphology |
OMIM:613724 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone concentration, Hyper... |
ORPHA:280356 |
| Haddad Syndrome |
|
Central sleep apnea, Abnormal autonomic nervous system physiology, Central hypoventilation, Breat... |
ORPHA:99803 |
| Necrotizing Enterocolitis |
|
Lethargy, Apnea, Abnormal glucose homeostasis, Hyperglycemia |
ORPHA:391673 |
| Pyruvate Dehydrogenase Deficiency |
|
Growth delay, Tachypnea, Dyspnea, Intrauterine growth retardation, Lethargy |
ORPHA:765 |
| Severe Canavan Disease |
|
Lethargy |
ORPHA:314911 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypoglycemia, Intrauterine growth retardation, Neonatal death, Decreased circulating cortisol level |
OMIM:618835 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Hypoglycemia, Intrauterine growth retardation, Neonatal death, Decreased circulating cortisol level |
OMIM:618839 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
| Pleural Mesothelioma |
|
Respiratory distress, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system physiology |
ORPHA:50251 |
| Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Hypoketotic hypoglycemia, Tachypnea, Pneumonia, Jaundic... |
ORPHA:26793 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect |
OMIM:614399 |
| Thyroid Lymphoma |
|
Respiratory distress, Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Upper airway obstru... |
ORPHA:97285 |
| Encephalopathy, Recurrent, Of Childhood |
|
Lethargy |
OMIM:130950 |
| Cholera |
|
Aspiration pneumonia, Palmoplantar cutis laxa, Tachypnea, Hypoglycemia, Hyperventilation, Letharg... |
ORPHA:173 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Respiratory insufficiency, Respiratory failure, Lethargy |
OMIM:609015 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Maternal diabet... |
OMIM:604367 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Tenorio Syndrome |
|
Hypoglycemia, Apnea, Hypoinsulinemia, Pneumonia |
OMIM:616260 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Hyperglycemia, Tachypnea |
OMIM:220111 |
| Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Apnea, Hypoglycemia, Diabetes mellitus, Hyperglycemia |
OMIM:609069 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Glucose intolerance, Acrocyanosis, Growth delay, Impaired glucose tolerance |
OMIM:614407 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
| Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Decreased... |
ORPHA:94086 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperventilation, Tachypnea |
OMIM:253270 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Coma, Lethargy |
ORPHA:79312 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hypoglycemia, Short stature, Prolonged neonatal jaundice |
OMIM:256810 |
| Hsd10 Mitochondrial Disease |
|
Hypoglycemia |
OMIM:300438 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia, Optic disc pallor, Cerebellar atrophy |
ORPHA:79264 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis, Intrauterine growth retardation |
OMIM:619793 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Bradykinesia |
ORPHA:240085 |
| Galactokinase Deficiency |
|
Hypoglycemia, Hypergonadotropic hypogonadism, Neonatal asphyxia, Hyperinsulinemia |
ORPHA:79237 |
| Combined Malonic And Methylmalonic Acidemia |
|
Hypoglycemia |
ORPHA:289504 |
| Myxedema |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Lethargy, Goiter |
OMIM:255900 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Severe postnatal growth retardation, Hypoglycemia, Hypothyroidism, Delayed puberty, Diabetes mell... |
ORPHA:391408 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglycemia |
OMIM:266150 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis |
OMIM:619466 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction |
ORPHA:100057 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
| Hereditary Fructose Intolerance |
|
Coma, Reactive hypoglycemia, Growth delay, Jaundice, Lethargy |
ORPHA:469 |
| Immunodeficiency, Common Variable, 10 |
|
Asthma, Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abn... |
OMIM:615577 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Short stature, Abnormality of the parathy... |
ORPHA:1227 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Coma, Hypoketotic hypoglycemia, Respiratory insufficiency, Respiratory failur... |
ORPHA:746 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Asthma, Hypoglycemia, Hypothyroidism, Postnatal growth retardation, Intrauterine growth retardation |
ORPHA:397590 |
| Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Lethargy |
OMIM:602390 |
| Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Episodic tachypnea, Apneic episodes in infancy |
ORPHA:163961 |
| Joubert Syndrome 3 |
|
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea |
OMIM:608629 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... |
ORPHA:254875 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplas... |
OMIM:246200 |
| Scrub Typhus |
|
Cough, Restrictive ventilatory defect, Reduced consciousness/confusion, Dyspnea, Lethargy |
ORPHA:83317 |
| Timothy Syndrome |
|
Hypoglycemia, Hypothyroidism, Pneumonia |
OMIM:601005 |
| Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
| Central Diabetes Insipidus |
|
Excessive daytime somnolence, Lethargy, Diabetes insipidus |
ORPHA:178029 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:616733 |
| Hereditary Methemoglobinemia |
|
Exertional dyspnea, Cyanosis |
ORPHA:621 |
| Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Fasting hypoglycemia, Decreased response to growth hormone stimulation test, Short stature |
ORPHA:436174 |
| Nipah Virus Disease |
|
Respiratory distress, Coma, Cough |
ORPHA:99825 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Prolonged neonatal jaundice, Dec... |
ORPHA:226307 |
| Dihydropyrimidinase Deficiency |
|
Excessive daytime somnolence, Growth delay, Lethargy |
OMIM:222748 |
| Cyclic Vomiting Syndrome |
|
Growth delay, Lethargy |
OMIM:500007 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
| Atypical Rett Syndrome |
|
Abnormal pattern of respiration, Sudden episodic apnea, Episodic tachypnea |
ORPHA:3095 |
| Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... |
ORPHA:137914 |
| Primary Lateral Sclerosis |
|
Atrophy of the spinal cord, Cervical spinal cord atrophy, Abnormal upper motor neuron morphology |
ORPHA:35689 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Coma, Tachypnea, Nonketotic hypoglycemia, Hypoglycemic coma, Recurrent hypoglycemia, Jaund... |
ORPHA:20 |
| Joubert Syndrome |
|
Apnea, Episodic tachypnea, Cerebellar vermis hypoplasia, Abnormal pattern of respiration, Agangli... |
ORPHA:475 |
| Typhoid |
|
Epistaxis, Coma, Lethargy, Cough |
ORPHA:99745 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Growth delay, Short stature, Hypothyroidism, Prominent superficial veins, Delayed puberty, Recurr... |
OMIM:616817 |
| Meningococcal Meningitis |
|
Petechiae, Drowsiness, Purpura, Reduced consciousness/confusion, Neonatal respiratory distress, L... |
ORPHA:33475 |
| Beta-Ketothiolase Deficiency |
|
Coma, Tachypnea, Hypoglycemia, Cough, Reduced consciousness/confusion, Excessive daytime somnolen... |
ORPHA:134 |
| Joubert Syndrome 17 |
|
Hyperventilation |
OMIM:614615 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Anaplastic thyroid carcinoma, Cough, Upper airway obstruction, Nodular goit... |
ORPHA:142 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy |
ORPHA:101150 |
| Methylcobalamin Deficiency Type Cble |
|
Drowsiness, Excessive daytime somnolence, Postnatal growth retardation, Intrauterine growth retar... |
ORPHA:2169 |
| Isolated Complex I Deficiency |
|
Respiratory insufficiency, Hypoglycemia, Diabetes mellitus, Intrauterine growth retardation, Leth... |
ORPHA:2609 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Decreased DLCO, Cough, Restrictive ventilatory defect, Hypoxemia, Dyspnea |
ORPHA:747 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Short stature |
ORPHA:66518 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Growth delay, Pulmonary arterial hypertension, Lethargy, Tachypnea |
OMIM:614857 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Respiratory insufficiency, Coma, Lethargy |
ORPHA:27 |
| Galactosemia |
|
Jaundice, Decreased serum insulin-like growth factor 1, Lethargy |
ORPHA:352 |
| Pure Autonomic Failure |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:441 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hypoglycemia, Excessive daytime somnolence, Coma |
OMIM:246450 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Lethargy |
OMIM:619064 |
| Glycogen Storage Disease Ixd |
|
Hypoglycemia |
OMIM:300559 |
| Familial Nasal Acilia |
|
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea |
ORPHA:922 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Hy... |
ORPHA:465508 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Cyanosis, Crackles, Elevated pulmonary artery pressure, Tachypnea,... |
ORPHA:1329 |
| Joubert Syndrome 2 |
|
Elongated superior cerebellar peduncle, Episodic tachypnea, Dysgenesis of the cerebellar vermis, ... |
OMIM:608091 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, Type II diabetes mellitus, Small pituitary gland, Central sleep apnea, Hypogo... |
ORPHA:398079 |
| Fatal Familial Insomnia |
|
Apnea, Abnormal autonomic nervous system physiology |
OMIM:600072 |
| Dengue Fever |
|
Petechiae, Bruising susceptibility, Cardiorespiratory arrest, Epistaxis, Lethargy |
ORPHA:99828 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... |
ORPHA:254864 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Respiratory insufficiency, Hypoglycemia, Nonketotic hypoglycemia, Neonatal respiratory dis... |
OMIM:608836 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology |
OMIM:611890 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress |
OMIM:604377 |
| Biotinidase Deficiency |
|
Optic atrophy, Apnea, Diffuse cerebellar atrophy, Tachypnea |
OMIM:253260 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Increased serum testosterone level, Type II diab... |
ORPHA:2298 |
| Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Increased serum testosterone level, Reduced subcutaneous adipose tiss... |
ORPHA:769 |
| Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:226316 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Jaundice, Pleural effusion |
OMIM:617049 |
| Multiple Endocrine Neoplasia, Type I |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... |
OMIM:131100 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hypoglycemia, Coma, Lethargy |
OMIM:210210 |
| Proprotein Convertase 1/3 Deficiency |
|
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cortisol level |
OMIM:600955 |
| Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Graves disease, Pituitary adenoma, De... |
ORPHA:199299 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Tachypnea |
OMIM:613320 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
| Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Hypoglycemia, Intrauterine growth retardation |
OMIM:616355 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Perioral erythema, Decreased serum testosterone concentration, Short stature, Perianal erythema, ... |
OMIM:201100 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Bradykinesia |
ORPHA:240103 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Impaired sensitivity... |
ORPHA:90673 |
| Central Neurocytoma |
|
Coma, Lethargy |
ORPHA:73256 |
| Pituitary Apoplexy |
|
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Coma, Elevated circulating growth horm... |
ORPHA:95613 |
| Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Growth delay, Hypoglycemic seizures |
OMIM:231530 |
| Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Cyanosis |
ORPHA:391428 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Increased circulating... |
ORPHA:90790 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Lethargy |
OMIM:236270 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypoglycemia, Short stature, Glycosuria, Diabetes mellitus |
OMIM:616026 |
| Spinocerebellar Ataxia, X-Linked 3 |
|
Episodic respiratory distress, Episodic hypoventilation, Lethargy |
OMIM:301790 |
| Hypotonia-Cystinuria Syndrome |
|
Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Postnatal growth retardation, Decreased re... |
OMIM:606407 |
| Joubert Syndrome 1 |
|
Elongated superior cerebellar peduncle, Episodic tachypnea, Dysgenesis of the cerebellar vermis, ... |
OMIM:213300 |
| Laryngeal Web, Familial |
|
Respiratory distress, Stridor |
OMIM:150360 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Short stature |
ORPHA:3085 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia |
ORPHA:79096 |
| Serotonin Syndrome |
|
Abnormality of the autonomic nervous system, Tachypnea |
ORPHA:43116 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Respiratory failure, Pleural effusion, Tachypnea |
ORPHA:542323 |
| Histiocytoid Cardiomyopathy |
|
Cyanosis, Tachypnea, Hypoglycemia, Cough, Drowsiness, Lethargy, Loss of consciousness |
ORPHA:137675 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Hypoglycemia, Insulin resistance, Dyspnea, Rhinitis |
ORPHA:230 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Episodic tachypnea |
ORPHA:2872 |
| Cog8-Cdg |
|
Hypoglycemia, Spontaneous hematomas |
ORPHA:95428 |
| Congenital Tracheomalacia |
|
Apnea, Tracheomalacia, Decreased peak expiratory flow, Cyanosis, Respiratory insufficiency, Neona... |
ORPHA:95430 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Sleep apnea, Precocious puberty, Type II diabetes mellitus, Small pituitary gland, Short stature,... |
ORPHA:398069 |
| Slc35A1-Cdg |
|
Hypoxemia, Respiratory distress, Subcutaneous hemorrhage, Pneumonia |
ORPHA:238459 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia, Respiratory failure, Reduced subcutaneous adipose tissue |
ORPHA:363400 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Decreased circulating T4 concentration, Congenital hypothyroidism, Elevated... |
ORPHA:226313 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:5 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Maternal diabetes, Tachypnea |
ORPHA:860 |
| Pulmonary Capillary Hemangiomatosis |
|
Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Decreased DLCO, Pleural effusion, Hypox... |
ORPHA:199241 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Apnea, Coma, Cyanosis, Respiratory insufficiency, Hypoglycemia, Growth delay, Respiratory failure... |
OMIM:252010 |
| Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Petechiae, Respiratory insufficiency, Pleural effusion, Leth... |
OMIM:617397 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Cyanosis, Paroxysmal dyspnea, Respiratory failure |
ORPHA:444013 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia, Cyanosis |
OMIM:261740 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia |
OMIM:614739 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
| Isovaleric Acidemia |
|
Coma, Lethargy |
OMIM:243500 |
| Congenital Diaphragmatic Hernia |
|
Hypoxemia, Respiratory distress |
ORPHA:2140 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te... |
ORPHA:293978 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Jaundice, Delirium, Pulmonary embolism, Hypoglycemia, Growth delay, Pulmona... |
ORPHA:79282 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Apnea, Abnormal autonomic nervous system physiology, Hypoxemia, Central hypoventilation, Hypercap... |
OMIM:209880 |
| Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
| Coronary Arterial Fistula |
|
Exertional dyspnea, Pulmonary arterial hypertension, Orthopnea, Tachypnea |
ORPHA:2041 |
| D-Glyceric Aciduria |
|
Hypoglycemia, Growth delay, Neonatal respiratory distress |
OMIM:220120 |
| Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Ketotic hypog... |
ORPHA:361 |
| Leprosy |
|
Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Epistaxis, Abnormal autonomi... |
ORPHA:548 |
| Pulmonary Alveolar Microlithiasis |
|
Oxygen desaturation on exertion, Nonproductive cough, Respiratory insufficiency, Tachypnea, Pneum... |
ORPHA:60025 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Growth delay, Decreased circulating T4 concentration... |
ORPHA:90674 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short stature, Respiratory insufficiency, Hypoglycemia, Hypothyroidism, Intrauterine growth retar... |
OMIM:618005 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Growth delay, Jaundice |
OMIM:251880 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Short stature |
OMIM:611590 |
| Congenital Myasthenic Syndrome |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... |
ORPHA:590 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... |
ORPHA:98914 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... |
ORPHA:90791 |
| Nephrotic Syndrome, Type 14 |
|
Hypoglycemia, Hypothyroidism, Adrenal insufficiency, Hypogonadism |
OMIM:617575 |
| Dopa-Responsive Dystonia |
|
Lethargy |
ORPHA:255 |
| Susac Syndrome |
|
Confusion, Lethargy |
ORPHA:838 |
| Myotonic Dystrophy 1 |
|
Excessive daytime somnolence, Testicular atrophy, Respiratory distress, Hypogonadism |
OMIM:160900 |
| Idiopathic Intracranial Hypertension |
|
Lethargy |
ORPHA:238624 |
| Mercury Poisoning |
|
Respiratory distress, Interstitial pneumonitis, Confusion, Dyspnea, Respiratory failure, Loss of ... |
ORPHA:330021 |
| Mitochondrial Phosphate Carrier Deficiency |
