Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Acid-Labile Subunit Deficiency |
|
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Mild postnatal growth retard... |
OMIM:615961 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, P... |
OMIM:262400 |
Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Growth delay, Delayed ... |
ORPHA:314802 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins... |
OMIM:262700 |
Type 2 Diabetes Mellitus |
|
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Growth delay, Delayed ... |
ORPHA:314811 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Intrauterine growth retardation, Severe short stature, Hypoglycemia |
OMIM:223500 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Abnormality of the seventh cranial n... |
ORPHA:90117 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati... |
ORPHA:171706 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Short stature, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Growth de... |
OMIM:618573 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... |
ORPHA:324575 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... |
OMIM:300770 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Short stature, Hypoglycemia |
ORPHA:366 |
Persistent Idiopathic Facial Pain |
|
Abnormal autonomic nervous system physiology |
ORPHA:398147 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... |
ORPHA:276608 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Respiratory insufficiency, Peripheral hypomyelination,... |
OMIM:605253 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Intrauterine growth retardation, Ketotic hypoglycemia, Lethargy |
ORPHA:26792 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Apneic episodes in infancy, Hypoglycemia |
OMIM:610006 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Excessive insulin response to glucagon test, Maternal diabetes, Hyperinsulinemia, Hypoglycemic se... |
ORPHA:276580 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... |
ORPHA:140896 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Mitchell Syndrome |
|
Respiratory insufficiency due to muscle weakness, Sensory axonal neuropathy, Abnormal autonomic n... |
OMIM:618960 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
Glycogen Storage Disease Vi |
|
Postnatal growth retardation, Hypoglycemia |
OMIM:232700 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO |
OMIM:616414 |
Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype... |
OMIM:620211 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Excessive insulin response to glucagon test, Hyperinsulinemia, Hypoglycemic seizures, Fasting hyp... |
ORPHA:276575 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Diffuse pancreatic islet hy... |
ORPHA:276556 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
Cardiomyopathy, Dilated, 2H |
|
Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Hypoglycemia, Apnea, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Short stature, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Lethargy |
ORPHA:2089 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy |
ORPHA:1186 |
Riboflavin Deficiency |
|
Lethargy, Hypoglycemia |
OMIM:615026 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postnatal growth reta... |
ORPHA:453533 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Increased circulating procalcitonin concentration, Diabetes mellitus, Pneum... |
ORPHA:36238 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Prolonged neonatal jaundice |
ORPHA:446 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Apnea, Dyspnea, Lethargy, Hyperventilation |
OMIM:229700 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... |
OMIM:262600 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia |
ORPHA:67046 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Postnatal growth retardation, Hypoglycemia |
OMIM:616111 |
Perching Syndrome |
|
Respiratory distress, Cyanosis |
OMIM:617055 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
Aganglionosis, Total Intestinal |
|
Total intestinal aganglionosis |
OMIM:202550 |
Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Short stature, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsuli... |
OMIM:262190 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Neona... |
ORPHA:293964 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy, Jaundice, Hypoglycemia |
OMIM:616483 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i... |
ORPHA:552 |
High Altitude Pulmonary Edema |
|
Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, Short stature, Hypoglycemia |
OMIM:618120 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Short stature, Respiratory insufficiency |
ORPHA:2901 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy, Hypoglycemia |
OMIM:246900 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Respiratory insufficiency |
ORPHA:6 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Hypoglycemia |
OMIM:614741 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy, Respiratory failure, Hypoglycemia, Adrenal insufficiency |
OMIM:619386 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Respiratory arrest, Hypoketotic hypoglycemia |
OMIM:600649 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Acrocyanosis |
OMIM:302000 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Hypoglyc... |
OMIM:613986 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Hypoglycemia, Apnea, Fasting hypoglycemia, Impaired gluconeogenesis |
OMIM:261680 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Lethargy, Cyanosis |
ORPHA:71277 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Postnatal growth retardation, Short stature, Neonatal hypoglycemia, Hypoglycemia |
ORPHA:231140 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Maternal diabetes, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Pu... |
ORPHA:70588 |
Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of endocrine pancreas physiology, Lethargy, Diabetes mellitus, Hypogonadism |
ORPHA:79230 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy, Sinusitis, Cough |
ORPHA:163703 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... |
ORPHA:217563 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy, Respiratory insufficiency |
OMIM:618224 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia |
OMIM:610090 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Diabetes mellitus, Short stature |
ORPHA:49827 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Intrauterine growth retardation, Hypoglycemia, Apnea |
OMIM:619048 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Apnea, Elevated circulating growth hormone concentration, Abnormal response to glucagon stimulati... |
ORPHA:79644 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age |
OMIM:618858 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Intrauterine growth retardation, Hypoglycemia |
ORPHA:231147 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Growth delay, Cough, Pulmonary art... |
ORPHA:2414 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level |
OMIM:607398 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Lethargy, Respiratory insufficiency due to muscle weakness, Respiratory distress |
OMIM:613561 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Endocardial Fibroelastosis |
|
Anterior hypopituitarism, Hypoglycemia |
ORPHA:2022 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Neonatal respiratory distress |
ORPHA:254857 |
Developmental And Epileptic Encephalopathy 40 |
|
Intrauterine growth retardation, Lethargy |
OMIM:617065 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Evans Syndrome |
|
Epistaxis, Dyspnea, Jaundice, Lethargy, Bruising susceptibility, Petechiae |
ORPHA:1959 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Tachypnea |
OMIM:620085 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency, Fasting hypoglycemia, Lethargy, Hypok... |
ORPHA:159 |
Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Short stature, Delayed thelarche, Hyperinsulinemic hypo... |
OMIM:616033 |
Glycogen Storage Disease Ixb |
|
Growth delay, Short stature, Hypoglycemia |
OMIM:261750 |
Joubert Syndrome 7 |
|
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:611560 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Short stature |
ORPHA:329249 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Lethargy |
OMIM:237310 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Glycosuria, Lethargy, ... |
ORPHA:263455 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Anterior pituitary hypoplasia, Hypoglycemia, Hypogonadotropic hypogonadism, Postna... |
OMIM:616113 |
Carnitine Deficiency, Systemic Primary |
|
Impaired gluconeogenesis, Lethargy, Recurrent hypoglycemia, Respiratory distress |
OMIM:212140 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy |
ORPHA:79283 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Lethargy, Breathing dysregulation, Hypoventilation |
OMIM:618232 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d... |
OMIM:201400 |
Glut1 Deficiency Syndrome 1 |
|
Lethargy, Paroxysmal lethargy |
OMIM:606777 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age |
OMIM:606176 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, Hypoglycemia, Apnea |
OMIM:210200 |
Mehmo Syndrome |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Birth length less than 3rd p... |
OMIM:300148 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Lethargy |
OMIM:274270 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... |
OMIM:616329 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadis... |
ORPHA:95619 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Decreased distal sensory nerve action potential, Axonal loss, Abnormal autono... |
OMIM:614575 |
Hemochromatosis, Neonatal |
|
Intrauterine growth retardation, Hypoglycemia, Prolonged neonatal jaundice |
OMIM:231100 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus |
OMIM:610947 |
Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Apnea |
OMIM:610992 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Bradykinesia, Apathy, Respiratory distress, Depression |
ORPHA:240085 |
Classic Galactosemia |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Jaundice, Depression, Delayed puberty... |
ORPHA:79239 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... |
ORPHA:2302 |
Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... |
ORPHA:95717 |
Tetanus |
|
Respiratory distress, Tachypnea, Abnormal autonomic nervous system physiology, Autonomic bladder ... |
ORPHA:3299 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Pulmonary arterial hypertension, Stillbirth, Neonatal death, Intrauterine g... |
OMIM:619751 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea |
ORPHA:1832 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Decreased nerve conduction velocity, Tachypnea, Axonal degenerati... |
OMIM:604320 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Lethargy, Diabetes insipidus |
ORPHA:30925 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy |
ORPHA:622 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy |
OMIM:618683 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Hypoglycemia, Respiratory insufficiency, Growth delay, Respiratory... |
OMIM:245400 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Short stature, Hypoglycemia |
ORPHA:364 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... |
ORPHA:2257 |
2P21 Microdeletion Syndrome |
|
Growth delay, Hypogonadism, Hypoglycemia |
ORPHA:163693 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
Hirschsprung Disease, Susceptibility To, 3 |
|
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon |
OMIM:613711 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:605543 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Propionic Acidemia |
|
Short stature, Apnea, Hypoglycemia, Tachypnea, Lethargy |
OMIM:606054 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Hypogonadism, Short stature |
OMIM:615993 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy... |
OMIM:617872 |
Thyroid Dyshormonogenesis 1 |
|
Growth delay, Lethargy, Hypothyroidism, Goiter |
OMIM:274400 |
Myopathy And Diabetes Mellitus |
|
Type I diabetes mellitus, Respiratory distress |
ORPHA:2596 |
Glycogen Storage Disease Ixc |
|
Postnatal growth retardation, Growth delay, Hypoglycemia, Fasting hypoglycemia |
OMIM:613027 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy |
ORPHA:26 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71526 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... |
OMIM:265120 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Intrauterine growth retardation, Short stature, Hypogonadotropic hypogonadism, Hypoglycemia |
ORPHA:48431 |
Temple Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Postnatal growth retardatio... |
ORPHA:254516 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy, Hypoglycemia |
OMIM:201450 |
Diarrhea 13 |
|
Recurrent hypoglycemia |
OMIM:620357 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Lethargy, Hypoglycemia |
ORPHA:156 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Lethargy, Hypoglycemia |
ORPHA:2394 |
Pyridoxine-Dependent Epilepsy |
|
Neonatal asphyxia, Neonatal respiratory distress, Hypoglycemia |
ORPHA:3006 |
Hyperlysinuria With Hyperammonemia |
|
Growth delay, Lethargy |
OMIM:238750 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Premature skin wrinkling, Hypoglycemia |
OMIM:617950 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Respiratory insufficiency |
OMIM:618241 |
Propionic Acidemia |
|
Hypoglycemia |
ORPHA:35 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... |
OMIM:610910 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Episodic tachypnea |
OMIM:615160 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hypoglycemia, Exertional dyspnea |
ORPHA:42 |
Hirschsprung Disease, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:600155 |
Hirschsprung Disease, Susceptibility To, 5 |
|
Aganglionic megacolon |
OMIM:600156 |
Hirschsprung Disease, Susceptibility To, 4 |
|
Aganglionic megacolon |
OMIM:613712 |
Malonyl-Coa Decarboxylase Deficiency |
|
Neonatal respiratory distress, Short stature, Hypoglycemia |
OMIM:248360 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Postnatal growth retardation, Short stature, Hypoglycemia |
ORPHA:231137 |
Laron Syndrome |
|
Severe short stature, Prematurely aged appearance, Hypoglycemia, Abnormality of the endocrine sys... |
ORPHA:633 |
Glycogen Storage Disease Iii |
|
Short stature, Hypoglycemia |
OMIM:232400 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Proportionate short stature, Neonatal hypoglycemia, Fasting hyperinsulinemia, Hypoglycemic seizur... |
ORPHA:71212 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Short stature |
OMIM:300580 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Growth delay, Lethargy, Apnea, Respiratory insufficiency |
OMIM:618226 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Lethargy, Tachypnea, Respiratory arrest |
OMIM:201475 |
Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Severe short stature, Lymphocytic interstitial pneumonia, Decreased respons... |
OMIM:245590 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Apnea, Respiratory insufficiency |
OMIM:618228 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia |
ORPHA:67048 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia |
ORPHA:79159 |
Maple Syrup Urine Disease |
|
Lethargy, Hypoglycemia |
OMIM:248600 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Lethargy, Hypoglycemia |
OMIM:251000 |
Glycine Encephalopathy 1 |
|
Lethargy |
OMIM:605899 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Apnea |
OMIM:618225 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiorespiratory arrest, Lethargy, Hypoglycemia, Neonatal hypoglycemia |
OMIM:212138 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Growth delay, Short stature, Hypoglycemia, Delayed puberty |
ORPHA:369 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Hypoglycemia, Postnatal growth retardation, Insulin resistance, Severe postnatal g... |
ORPHA:73272 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Respiratory insufficiency |
ORPHA:28 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... |
OMIM:202200 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Growth delay, Lethargy, Respiratory distress |
ORPHA:289916 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecific interstitial pn... |
OMIM:610921 |
Silver-Russell Syndrome 2 |
|
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia |
OMIM:618905 |
Glycogen Storage Disease Ixa1 |
|
Growth delay, Hypoglycemia |
OMIM:306000 |
Benign Samaritan Congenital Myopathy |
|
Lethargy, Abnormal respiratory system physiology |
ORPHA:324581 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia |
OMIM:618838 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni... |
OMIM:614736 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Lethargy |
OMIM:610498 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebellar atrophy, Optic disc pallor, Tachypnea, Respiratory failure, Atrophy/Degeneration affec... |
OMIM:615838 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Short stature, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism, Del... |
ORPHA:95496 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea |
OMIM:616501 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Growth delay, Cyanosis, Exertional dyspnea |
OMIM:250800 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hypoglycemia, Episodic tachypnea, Intermittent hyperventilation, Dyspnea, A... |
ORPHA:348 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycemic seizures, Adrenocorticotro... |
ORPHA:199296 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Tachypnea, Optic atrophy, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Recurrent hypoglycemia, Elevated circulating thyroid-stim... |
ORPHA:94086 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Intrauterin... |
OMIM:618253 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Short Stature, Dauber-Argente Type |
|
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature |
OMIM:619489 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome |
OMIM:201910 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor, Short stature |
ORPHA:2374 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:618958 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
Joubert Syndrome With Oculorenal Defect |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Apnea, Tachypnea, Molar tooth sign on MRI |
ORPHA:2318 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia |
OMIM:618835 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy, Primary gonadal insufficiency, Decreased circulating progesterone |
OMIM:603896 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia |
OMIM:618839 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Crigler-Najjar Syndrome |
|
Lethargy, Jaundice |
ORPHA:205 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy, Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Familial Renal Glucosuria |
|
Insulin resistance, Moderate postnatal growth retardation, Abnormal circulating insulin concentra... |
ORPHA:69076 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion |
ORPHA:50251 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Lethargy, Tachypnea, Respiratory distress |
ORPHA:79242 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency |
OMIM:614399 |
Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Tachypnea, Growth delay, Intrauterine growth retardation, Lethargy |
ORPHA:765 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Necrotizing Enterocolitis |
|
Lethargy, Hyperglycemia, Apnea, Abnormal glucose homeostasis |
ORPHA:391673 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Pneumonia, Jaundice, Tachypnea, Lethargy, Hypoketotic h... |
ORPHA:26793 |
Severe Canavan Disease |
|
Lethargy |
ORPHA:314911 |
Dihydropyrimidinase Deficiency |
|
Growth delay, Lethargy |
OMIM:222748 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Lethargy, Respiratory failure, Respiratory insufficiency, Hypoketotic hypoglycemia |
OMIM:609015 |
Multifocal Atrial Tachycardia |
|
Dyspnea, Lethargy, Tachypnea, Hypothyroidism |
ORPHA:3282 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Growth delay, Glucose intolerance, Acrocyanosis, Impaired glucose tolerance |
OMIM:614407 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Insulin-resistant diabetes mellitus at puberty, Hyperinsulin... |
ORPHA:280356 |
Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Apnea |
OMIM:611523 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Carnitine Palmitoyltransferase I Deficiency |
|
Lethargy, Hypoketotic hypoglycemia |
OMIM:255120 |
Tenorio Syndrome |
|
Apnea, Hypoglycemia, Hypoinsulinemia, Recurrent pneumonia |
OMIM:616260 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Prominent superficial veins, Maternal diabetes, Insulin resi... |
OMIM:604367 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Short stature |
ORPHA:369873 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Thyroid Lymphoma |
|
Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Stridor, Hypothyroidism... |
ORPHA:97285 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Hypoglycemia, Jaundice, Intrauterine growth retardation, Lethargy |
OMIM:617156 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Intrauterine growth retardation, Pleural effusion, Hypoglycemia |
OMIM:614702 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Abnormal autonomic nervous system physiology, Hyperventilation |
OMIM:617903 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia |
OMIM:620137 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... |
OMIM:619326 |
Galactokinase Deficiency |
|
Neonatal asphyxia, Hyperinsulinemia, Hypoglycemia, Hypergonadotropic hypogonadism |
ORPHA:79237 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Haddad Syndrome |
|
Aganglionic megacolon, Central hypoventilation, Breathing dysregulation, Abnormal autonomic nervo... |
ORPHA:99803 |
Central Diabetes Insipidus |
|
Lethargy, Diabetes insipidus, Depression |
ORPHA:178029 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Short stature, Hypogonadism, Lethargy, Hypothyroidism |
ORPHA:254913 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia |
OMIM:300438 |
Combined Malonic And Methylmalonic Acidemia |
|
Hypoglycemia |
ORPHA:289504 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Intrauterine growth retardation, Cyanosis |
OMIM:619793 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria |
ORPHA:100057 |
Choanal Atresia |
|
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... |
ORPHA:137914 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Dorsocervical fat pad, Hypoglycemia, Proportionate short stature, Severe postn... |
ORPHA:391408 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis |
OMIM:150260 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Cholera |
|
Hypoglycemia, Tachypnea, Aspiration pneumonia, Palmoplantar cutis laxa, Lethargy, Hyperventilation |
ORPHA:173 |
Immunodeficiency, Common Variable, 10 |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Asthma, Recurrent pneumonia,... |
OMIM:615577 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy, Jaundice, Tachypnea, Hypoglycemia |
OMIM:615751 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
Solitary Fibrous Tumor |
|
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia |
ORPHA:2126 |
Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea |
ORPHA:621 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Lethargy |
ORPHA:79312 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Rhizomelia, Hypoglycemia, Recurrent pneumonia, Lethargy |
OMIM:607143 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia |
OMIM:266150 |
Hemochromatosis, Type 2A |
|
Lethargy, Hypogonadotropic hypogonadism |
OMIM:602390 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypoglycemia, Postnatal growth retardation, Asthma, Intrauterine growth retardation, Hypothyroidism |
ORPHA:397590 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia |
OMIM:620195 |
Bangstad Syndrome |
|
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cort... |
ORPHA:1227 |
Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:3095 |
Donohue Syndrome |
|
Postnatal growth retardation, Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperpl... |
OMIM:246200 |
Joubert Syndrome 3 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608629 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Intrauterine growth retardation, Respiratory distress |
OMIM:616733 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Fasting hypoglycemia |
ORPHA:436174 |
Cyclic Vomiting Syndrome |
|
Growth delay, Lethargy |
OMIM:500007 |
Isolated Complex I Deficiency |
|
Diabetes mellitus, Hypoglycemia, Respiratory insufficiency, Intrauterine growth retardation, Leth... |
ORPHA:2609 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hypoglycemia, Jaundice, Glycosuria, Neonatal death |
OMIM:231680 |
Citrullinemia Type I |
|
Tachypnea |
ORPHA:247525 |
Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Apnea, Episodic tachypnea, Abnormal pattern ... |
ORPHA:475 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Diabetes mellitus, Hypogonadotropic hypogonadism, Apa... |
ORPHA:465508 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Prominent superficial veins, Short stature, Growth delay, Recurrent hypoglycemia, Delayed puberty... |
OMIM:616817 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Anaplastic thyroid carcinoma, C... |
ORPHA:142 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Lethargy, Pulmonary arterial hypertension |
OMIM:619064 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy |
ORPHA:101150 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Decreased circulating parathyroid hormone level |
OMIM:143880 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Apnea, Jaundice, Tachypnea, Recurrent hypoglycemia, Apathy, Lethargy |
ORPHA:20 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Growth delay, Lethargy, Tachypnea, Pulmonary arterial hypertension |
OMIM:614857 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO |
ORPHA:747 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Respiratory insufficiency, Respiratory failure, Lethargy, Hypoketotic hypogly... |
ORPHA:746 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Lethargy, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... |
ORPHA:90673 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Jaundice, Hypoglycemia |
OMIM:617049 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia |
OMIM:300559 |
Joubert Syndrome 2 |
|
Central apnea, Neonatal breathing dysregulation, Agenesis of cerebellar vermis, Brainstem dysplas... |
OMIM:608091 |
Pure Autonomic Failure |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:441 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Chronic cough, Pulmonary arterial hypertensi... |
OMIM:620233 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Intrauterine growth retardation, Hypoglycemia, Hypoventilation |
OMIM:620275 |
Hereditary Fructose Intolerance |
|
Growth delay, Lethargy, Jaundice, Reactive hypoglycemia |
ORPHA:469 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperventilation |
OMIM:253270 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Renal Hypoplasia, Bilateral |
|
Neonatal respiratory distress, Short stature, Growth delay, Glycosuria, Lethargy |
ORPHA:97362 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure, Neonatal death, ... |
OMIM:605711 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Hypoglycemia |
ORPHA:391428 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Short stature |
ORPHA:66518 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Depression |
ORPHA:238624 |
Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Type I diabetes mellitus, Respiratory failure, Respiratory distress |
OMIM:620166 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology |
OMIM:611890 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Neonatal respiratory distress, Hypoglycemia, Apnea, Respiratory insuffic... |
OMIM:608836 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
Dengue Fever |
|
Epistaxis, Cardiorespiratory arrest, Lethargy, Bruising susceptibility, Petechiae |
ORPHA:99828 |
Congenital Heart Block |
|
Intrauterine growth retardation, Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
Biotinidase Deficiency |
|
Tachypnea, Diffuse cerebellar atrophy, Optic atrophy, Apnea |
OMIM:253260 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Lethargy |
ORPHA:927 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Pituitary adenoma, Decrea... |
ORPHA:199299 |
Joubert Syndrome 1 |
|
Central apnea, Optic disc pallor, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Br... |
OMIM:213300 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Short stature, Perianal erythema, Hypogonadism, Perioral erythema, Lethargy, Decreased serum test... |
OMIM:201100 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Bradykinesia, Respiratory distress |
ORPHA:240103 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
Hypotonia-Cystinuria Syndrome |
|
Postnatal growth retardation, Hypergonadotropic hypogonadism, Decreased response to growth hormon... |
OMIM:606407 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Increased pineal volume, Short stature, Impaired glucose tol... |
ORPHA:769 |
Scrub Typhus |
|
Dyspnea, Lethargy, Restrictive ventilatory defect, Cough |
ORPHA:83317 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Pituitary hypothyroidism, Depression, Growth delay, ... |
ORPHA:90674 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Apnea, Severe intrauterine ... |
OMIM:609069 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Growth delay, Hypoglycemic seizures, Hypoketotic hypoglycemia |
OMIM:231530 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... |
OMIM:131100 |
Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:616355 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, Congenital ... |
ORPHA:226313 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Diabetes mellitus, Short stature, Hypoglycemia |
OMIM:616026 |
Insulin-Resistance Syndrome Type B |
|
Pneumonia, Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsulinemi... |
ORPHA:2298 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Pneumonia, Jaundice, Inc... |
ORPHA:90790 |
Typhoid |
|
Lethargy, Epistaxis, Cough |
ORPHA:99745 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Dyspnea, Insulin resistance, Hyperinsulinemia, Rhinitis |
ORPHA:230 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Respiratory insufficiency, Lethargy, Pleural effusion, Petec... |
OMIM:617397 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea, Maternal diabetes |
ORPHA:860 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Timothy Syndrome |
|
Hypothyroidism, Pulmonary arterial hypertension, Hypoglycemia, Pneumonia |
OMIM:601005 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Episodic tachypnea |
ORPHA:2872 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Short stature, Type II diabetes mellitus, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Cog8-Cdg |
|
Spontaneous hematomas, Hypoglycemia |
ORPHA:95428 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Apathy, Hypoglycemia |
OMIM:246450 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:5 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis |
ORPHA:444013 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia |
ORPHA:79096 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
Slc35A1-Cdg |
|
Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage |
ORPHA:238459 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... |
ORPHA:95430 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Tachypnea |
OMIM:613320 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia |
OMIM:614739 |
Serotonin Syndrome |
|
Abnormality of the autonomic nervous system, Tachypnea |
ORPHA:43116 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Lethargy, Respiratory insufficiency |
ORPHA:27 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Respiratory failure |
ORPHA:363400 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Apnea, Aganglionic megacolon, Central hypoventilation, Hypercapnia, Hypoxemia, A... |
OMIM:209880 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Respiratory distress |
ORPHA:2140 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Lethargy, Hypoglycemia |
OMIM:210210 |
Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Tachypnea, Apathy, Cough, Hyperglycemia |
ORPHA:134 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Growth delay, Hyperglycemia, Hypoglycemia |
OMIM:615453 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Neonatal death, Lethargy, Respiratory failure, Stillbirth |
OMIM:614922 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cyanosis, Hypoglycemia, Apnea, Respiratory insufficiency, Growth delay, Respiratory failure, Leth... |
OMIM:252010 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... |
ORPHA:199241 |
Meningococcal Meningitis |
|
Lethargy, Neonatal respiratory distress, Petechiae, Purpura |
ORPHA:33475 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Lethargy |
OMIM:236270 |
Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy |
OMIM:233910 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:617710 |
Leprosy |
|
Epistaxis, Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Abnormal autonomi... |
ORPHA:548 |
Coronary Arterial Fistula |
|
Orthopnea, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea |
ORPHA:2041 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Bipolar affective disorder, Diabetes mellitus, Hyperthyroidism, Goiter, Respiratory insufficiency... |
ORPHA:254892 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Short stature, Hypoglycemia, Growth delay, Adrenal insufficiency, Leth... |
OMIM:307030 |
D-Glyceric Aciduria |
|
Growth delay, Neonatal respiratory distress, Hypoglycemia |
OMIM:220120 |
Methemoglobinemia And Ambiguous Genitalia |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Cyanosis, Elevated circulatin... |
OMIM:250790 |
Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Hypoglycemia, Pulmonary embolism, Jaundice, Growth delay, Pulmonary arteria... |
ORPHA:79282 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Postnatal growth retardation, Intrauterine growth retardation, Jaundice, Hypoglycemia |
OMIM:617093 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Short stature |
OMIM:611590 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy |
OMIM:250620 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia |
ORPHA:596 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress |
OMIM:616974 |
Joubert Syndrome 17 |
|
Hyperventilation |
OMIM:614615 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Absence of pubertal develo... |
ORPHA:398079 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... |
ORPHA:2038 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Chronic lung disease, Cerebellar vermis hypoplasia, Apnea, Abnormal cerebellum morphology, Tachyp... |
ORPHA:397715 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Short stature, Hypoglycemia, Neonatal asphyxia, Jaundice, Respiratory insufficiency, Growth delay... |
OMIM:608779 |
Congenital Disorder Of Glycosylation, Type It |
|
Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Dyspnea, Growth delay,... |
OMIM:614921 |
Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
Myasthenia Gravis |
|
Hyperthyroidism, Dyspnea, Primary adrenal insufficiency, Abnormal thymus morphology, Glycosuria, ... |
ORPHA:589 |
Methylcobalamin Deficiency Type Cble |
|
Postnatal growth retardation, Intrauterine growth retardation, Lethargy |
ORPHA:2169 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:615042 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Hypoglycemia, Tachypnea, Cough, Lethargy |
ORPHA:137675 |
Mirage Syndrome |
|
Short stature, Hypoglycemia, Adrenal hypoplasia, Hypergonadotropic hypogonadism, Adrenal insuffic... |
OMIM:617053 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea |
ORPHA:555874 |
Developmental And Epileptic Encephalopathy 41 |
|
Lethargy |
OMIM:617105 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology |
OMIM:215470 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:261304 |
Tetrasomy 5P |
|
Postnatal growth retardation, Pulmonary arterial hypertension, Cyanosis, Respiratory distress |
ORPHA:3309 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Silver-Russell Syndrome 1 |
|
Intrauterine growth retardation, Decreased response to growth hormone stimulation test, Fasting h... |
OMIM:180860 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Jaundice, Growth delay, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest,... |
OMIM:617248 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Cyanotic episode |
ORPHA:284417 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Stt3B-Cdg |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:370924 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Neonatal death, Hypoglycemia |
OMIM:620300 |
Smith-Kingsmore Syndrome |
|
Rhizomelia, Hypoglycemia |
OMIM:616638 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration |
OMIM:620011 |
Cirrhosis, Familial |
|
Lethargy, Jaundice, Pulmonary arterial hypertension |
OMIM:215600 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Rhizomelia, Recurrent pneumonia, Growth delay, Intrauterine growth retardat... |
OMIM:616271 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory failure |
ORPHA:26791 |
Isovaleric Acidemia |
|
Lethargy |
OMIM:243500 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Intrauterine growth retardation |
OMIM:615597 |
Reni Syndrome |
|
Hypogonadism, Hypothyroidism, Hypoglycemia, Adrenal insufficiency |
OMIM:617575 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Neonatal death, Intrauterine growth retardation, Hypoglycemia, Neonatal hypoglycemia |
OMIM:619055 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:98914 |
Fanconi-Bickel Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Growth delay, Fasting hypoglycemia, Glycosuria, Po... |
ORPHA:2088 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Lethargy |
OMIM:238970 |
Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Cyanosis, Short stature, Tachypnea, Aplasia/Hypoplasia of the thymus |
ORPHA:3426 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Disproportionate short sta... |
OMIM:616482 |
Mandibuloacral Dysplasia |
|
Increased subcutaneous truncal adipose tissue, Postnatal growth retardation, Insulin resistance, ... |
ORPHA:2457 |
Poems Syndrome |
|
Diabetes mellitus, Respiratory insufficiency due to muscle weakness, Abnormality of the endocrine... |
ORPHA:2905 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia |
OMIM:608688 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology |
ORPHA:275872 |
Arima Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... |
OMIM:243910 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... |
ORPHA:90051 |
Silver-Russell Syndrome |
|
Short stature, Postnatal growth retardation, Precocious puberty, Insulin resistance, Recurrent hy... |
ORPHA:813 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Pleural effusion, Neonatal hypoglycemia |
OMIM:261740 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Short stature, Precocious puberty, Absence of pubertal development, Central h... |
ORPHA:398069 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Short stature, Central hypoventilation, Decreased response to growth h... |
ORPHA:293987 |
Ogden Syndrome |
|
Postnatal growth retardation, Lethargy |
ORPHA:276432 |
Esophageal Atresia |
|
Respiratory distress, Cyanosis, Maternal diabetes, Episodic respiratory distress, Chronic pulmona... |
ORPHA:1199 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Chitayat Syndrome |
|
Respiratory distress, Short stature, Tracheomalacia |
OMIM:617180 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Prominent superficial veins, Decreased adipose tissue around neck, Progeroid facial appearance, I... |
OMIM:608612 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:89844 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Neonatal hypoglycemia |
OMIM:619046 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:2590 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Non-Acquired Panhypopituitarism |
|
Pituitary dwarfism, Ectopic posterior pituitary, Short stature, Hypoglycemia, Decreased response ... |
ORPHA:90695 |
3-Methylglutaconic Aciduria Type 7 |
|
Pneumothorax, Growth delay, Respiratory failure, Hypothyroidism, Neonatal hypoglycemia |
ORPHA:445038 |
Dravet Syndrome |
|
Bradykinesia, Cyanotic episode |
ORPHA:33069 |
Hereditary Bullous Dystrophy, Macular Type |
|
Growth delay, Acrocyanosis, Short stature, Pneumonia |
ORPHA:1867 |
Odontochondrodysplasia |
|
Respiratory distress, Short stature |
ORPHA:166272 |
Familial Hypoaldosteronism |
|
Growth delay, Adrenal insufficiency, Increased circulating renin level, Lethargy, Decreased circu... |
ORPHA:427 |
Rodrigues Blindness |
|
Ectodermal dysplasia, Nasal flaring, Short stature |
OMIM:268320 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Lethargy, Pneumothorax |
OMIM:620306 |
Hyperparathyroidism, Neonatal Severe |
|
Dyspnea, Tachypnea |
OMIM:239200 |
Shashi-Pena Syndrome |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:617190 |
Immunodeficiency 59 And Hypoglycemia |
|
Short stature, Hypoglycemia, Prolonged neonatal jaundice |
OMIM:233600 |
Pituitary Apoplexy |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti... |
ORPHA:95613 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Telangiectasia |
OMIM:608799 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Glutaric Acidemia Type 3 |
|
Lethargy |
ORPHA:35706 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Atrial Septal Defect, Ostium Primum Type |
|
Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmonary arteria... |
ORPHA:99106 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology |
ORPHA:52430 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Glyc... |
OMIM:220110 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Intrauterine growth retardation, Short stature, Hypothyroidism, Hypoglycemia |
OMIM:618005 |
Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor |
OMIM:207950 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypoglycemia |
OMIM:611126 |
Tularemia |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:3392 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Thyroid dysgenesis, Neonatal respiratory distress, Hypoparathyroidism, Shor... |
ORPHA:209905 |
Basilicata-Akhtar Syndrome |
|
Precocious puberty, Neonatal hypoglycemia |
OMIM:301032 |
Bachmann-Bupp Syndrome |
|
Hypoglycemia |
OMIM:619075 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Short stature, Hypoglycemia, Jaundice, Growth delay, Recurrent hypoglycemia... |
OMIM:256810 |
Ebola Hemorrhagic Fever |
|
Dyspnea, Lethargy, Cough |
ORPHA:319218 |
Glycogen Storage Disease Ia |
|
Short stature, Hypoglycemia, Growth delay, Fasting hypoglycemia, Delayed puberty |
OMIM:232200 |
Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Apathy, Neonatal death, Intrauterine growth retardation, Petechiae, ... |
OMIM:608013 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Lethargy |
OMIM:251110 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Short stature, Ketotic hypoglycemia, Postnatal growth retardation, Recurrent hypoglycemia, Fastin... |
ORPHA:79240 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Tachypnea |
OMIM:615934 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Hypoglycemia, Respiratory insufficiency |
OMIM:618329 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... |
OMIM:211530 |
Biotinidase Deficiency |
|
Respiratory distress, Lethargy, Apnea, Hyperventilation |
ORPHA:79241 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy, Apnea, Cardiorespiratory arrest |
OMIM:608643 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Growth delay, Jaundice, Hypoglycemia |
OMIM:251880 |
Rh Deficiency Syndrome |
|
Hypoxemia, Tachypnea |
ORPHA:71275 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:619355 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... |
ORPHA:91355 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Precocious p... |
ORPHA:96182 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Tachypnea, Growth delay, Apathy, Hyperglycemia, Abnormal pattern of respiration |
ORPHA:3008 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Neonatal hypoglycemia |
OMIM:617600 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Short stature, Hypoglycemia, Growth delay, Fasting hypoglycemia, Delayed puberty |
ORPHA:264580 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short stature |
OMIM:617102 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology |
OMIM:221770 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Postnatal growth retardation, Fasting hypoglycemia, Glycosur... |
OMIM:227810 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy |
OMIM:237300 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Pituitary gonadotropic cell ade... |
ORPHA:652 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Tachypnea |
OMIM:613834 |
Aicardi-Goutieres Syndrome 1 |
|
Short stature, Diabetes insipidus, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Hypothyro... |
OMIM:225750 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Short stature, Cutis marmorata, Hypoglycemia, Telangiectasia, Thy... |
ORPHA:109 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Short stature,... |
OMIM:616007 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Asthma, Neonatal hypoglycemia |
ORPHA:457485 |
Oromandibular Dystonia |
|
Respiratory distress, Depression |
ORPHA:93958 |
Cocaine Intoxication |
|
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation |
ORPHA:90068 |
Alobar Holoprosencephaly |
|
Central apnea, Short stature, Decreased response to growth hormone stimulation test, Diabetes ins... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Short stature, Decreased response to growth hormone stimulation test, Diabetes ins... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Short stature, Decreased response to growth hormone stimulation test, Diabetes ins... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Central apnea, Short stature, Decreased response to growth hormone stimulation test, Diabetes ins... |
ORPHA:220386 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Tachypnea, Pneumonia |
ORPHA:36234 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Fructose Intolerance, Hereditary |
|
Lethargy, Jaundice, Hypoglycemia, Glycosuria |
OMIM:229600 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Mesomelic short stature, Short stature |
OMIM:184260 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Postnatal growth retardation, Insulin resistance, Hyperinsul... |
ORPHA:508 |
Glutaric Acidemia I |
|
Hypoglycemia |
OMIM:231670 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
Congenital Generalized Lipodystrophy |
|
Prominent superficial veins, Diabetes mellitus, Precocious puberty in females, Insulin resistance... |
ORPHA:528 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... |
ORPHA:293978 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Short stature, Hypogonadotropic hypogonadism, Growth delay, Delayed puberty |
ORPHA:2326 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Growth delay, Dyspnea, Respiratory failure, Respiratory distress |
ORPHA:2707 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Lethargy |
OMIM:251100 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Severe postnatal growth retardation, Short stature, Neonatal hypoglycemia |
ORPHA:35173 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Hypogonadism, Testicular atrophy |
OMIM:160900 |
Malignant Hyperthermia Of Anesthesia |
|
Tachypnea, Hypercapnia |
ORPHA:423 |
Pitt-Hopkins-Like Syndrome 2 |
|
Hyperventilation |
OMIM:614325 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Prominent superficial veins, Short stature, Dyspnea, Palmoplantar cutis lax... |
ORPHA:363705 |
Congenital Disorder Of Glycosylation, Type Im |
|
Aspiration, Hypoketotic hypoglycemia |
OMIM:610768 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Growth delay, Pulmonary arterial hypertension, Respiratory distress |
OMIM:619272 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Urticaria, Growth delay, Acrocyanosis, Purpura |
ORPHA:343 |
Citrullinemia Type Ii |
|
Lethargy, Delayed menarche, Mania |
ORPHA:247585 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Growth delay, Intrauterine growth retardation, Lethargy |
ORPHA:79284 |
Ethylene Glycol Poisoning |
|
Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration |
ORPHA:31826 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Adrenal hypoplasia, Primary adrenal insuffici... |
ORPHA:95409 |
Encephalitis Lethargica |
|
Lethargy, Hyperventilation |
ORPHA:83600 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea |
OMIM:619580 |
Addison Disease |
|
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Adrenal calcification, Ad... |
ORPHA:85138 |
Glycine Encephalopathy |
|
Lethargy, Respiratory acidosis, Breathing dysregulation |
ORPHA:407 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Abnormal circulating calcium-phosphate regulating hormone concentration, Hy... |
ORPHA:50810 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea |
OMIM:618426 |
Dilated Cardiomyopathy With Ataxia |
|
Growth delay, Intrauterine growth retardation, Hypothyroidism, Neonatal hypoglycemia |
ORPHA:66634 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Neonatal death |
OMIM:300219 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Short stature, Hypogonadotropic hypogonadism, Precocious pu... |
ORPHA:90794 |
Leigh Syndrome |
|
Hypoglycemia, Growth delay, Respiratory failure, Intrauterine growth retardation, Abnormal patter... |
ORPHA:506 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Hyperventilation |
ORPHA:420492 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Intrauterine growth retardation, Neonatal hypoglycemia |
ORPHA:565624 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency |
OMIM:617239 |
Moebius Syndrome |
|
Respiratory distress, Hypogonadotropic hypogonadism |
OMIM:157900 |
Joubert Syndrome 8 |
|
Hyperventilation |
OMIM:612291 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress |
ORPHA:544503 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Alstrom Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonad... |
OMIM:203800 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... |
ORPHA:99104 |
Lambert-Eaton Myasthenic Syndrome |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:43393 |
Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Neonatal short-limb short stature, Rhizomelia |
OMIM:151210 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency |
ORPHA:367 |
Acute Liver Failure |
|
Hypoglycemia, Jaundice, Abnormal respiratory system physiology, Depression, Adrenal insufficiency... |
ORPHA:90062 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Compensated hypothyroidism, Hypoglycemia, Hypoglycemic seizures |
ORPHA:480864 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis |
ORPHA:896 |
Kabuki Syndrome 2 |
|
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Neonatal hypoglycemia |
OMIM:300867 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Nonproductive cough, Dyspnea, Recurrent pneumonia, Bronchiectasis, Growth de... |
ORPHA:980 |
Pearson Marrow-Pancreas Syndrome |
|
Type I diabetes mellitus, Lethargy, Erythema |
OMIM:557000 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Hyperventilation |
ORPHA:98784 |
Diaphanospondylodysostosis |
|
Respiratory distress, Disproportionate short-trunk short stature, Respiratory insufficiency, Trac... |
OMIM:608022 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Lethargy, Erythema |
OMIM:618321 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lethargy, Apnea |
ORPHA:395 |
Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Reduced circulating prolactin concentration |
OMIM:223360 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypothyroidism, Hypoglycemia, Premature thelarche, Premature pubarche |
OMIM:616878 |
Posterior Urethral Valve |
|
Postnatal growth retardation, Lethargy |
ORPHA:93110 |
Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae |
OMIM:602473 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Radio-Renal Syndrome |
|
Respiratory distress, Severe short stature, Dyspnea, Respiratory failure, Chylothorax, Pleural ef... |
ORPHA:3015 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Lethargy, Short stature |
OMIM:277380 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Short stature |
OMIM:606164 |
Childhood Absence Epilepsy |
|
Hyperventilation |
ORPHA:64280 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Postnatal growth retardation, In... |
OMIM:248370 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Lethargy |
OMIM:607483 |
Sotos Syndrome |
|
Glucose intolerance, Neonatal hypoglycemia, Prolonged neonatal jaundice |
OMIM:117550 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Growth delay, Apnea, Hypoglycemia, Respiratory distress |
ORPHA:17 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
Kniest Dysplasia |
|
Respiratory distress, Rhizomelia, Tracheomalacia, Disproportionate short-trunk short stature |
OMIM:156550 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hypoketotic hypoglycemia |
ORPHA:228305 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Neonatal hypoglycemia |
OMIM:608624 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Jaundice, Respiratory ins... |
OMIM:615512 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Cough, Acrocyanosis, Pu... |
ORPHA:183 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia |
ORPHA:457279 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Short stature, Hypoglycemia, Epistaxis, Thyroiditis, Hypoglycemic seizures, Growth delay, Pulmona... |
ORPHA:79259 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... |
ORPHA:289548 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Hyperthyroidism, Pneumonia, Abnormality of the endocrine system, Thyroiditi... |
ORPHA:37042 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Short stature, Hypoglycemia, Tachypnea, Respiratory insufficiency, Growth delay, Respiratory fail... |
OMIM:613658 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Shigellosis |
|
Urticaria, Hypoglycemia, Pneumonia, Purpura |
ORPHA:810 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Growth delay, Hypoglycemia, Neonatal hypoglycemia, Prolonged neonatal jaundice |
OMIM:619418 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating luteinizing hormon... |
ORPHA:168558 |
Glycogen Storage Disease Ic |
|
Pulmonary arterial hypertension, Hypoglycemia, Spider hemangioma, Delayed puberty |
OMIM:232240 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor |
ORPHA:100050 |
Hydranencephaly |
|
Postnatal growth retardation, Intrauterine growth retardation, Lethargy, Atrophic pituitary gland |
ORPHA:2177 |
Rett Syndrome |
|
Apnea, Intermittent hyperventilation |
OMIM:312750 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrauterine growth retardation, Jaundice, Lethargy |
OMIM:614866 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress |
OMIM:619383 |
Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:610188 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:205100 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperventilation |
OMIM:610042 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
Glycogen Storage Disease Ib |
|
Short stature, Hypoglycemia, Delayed puberty |
OMIM:232220 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory failure, Tachypnea, Respiratory insufficiency |
OMIM:618278 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia |
OMIM:202650 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Lethargy |
OMIM:277410 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Hypoglycemia |
OMIM:620224 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Pituitary dwarfism, Ectopic posterior pituitary, Hypoglycemia, Decreased response to growth hormo... |
ORPHA:95494 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypoglycemia, Depression, Recurrent hypoglycemia, Neonatal death, Hyperglycemia |
OMIM:124000 |
Marburg Hemorrhagic Fever |
|
Hypoglycemia, Nonproductive cough, Jaundice, Lethargy, Bruising susceptibility, Petechiae |
ORPHA:99826 |
Orofaciodigital Syndrome Type 6 |
|
Apnea, Episodic tachypnea |
ORPHA:2754 |
Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Progeroid facial appea... |
ORPHA:79086 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Growth delay, Intrauterine growth retardation, Respiratory distress |
OMIM:612863 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Pulmonary embolism, Dyspnea, Jaundice, Glycosuria, Lethargy |
ORPHA:447 |
Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
Meckel Syndrome 14 |
|
Pneumothorax, Cyanosis, Cardiorespiratory arrest |
OMIM:619879 |
Gitelman Syndrome |
|
Respiratory distress, Maternal diabetes, Insulin resistance, Parathyroid adenoma, Glucose intoler... |
ORPHA:358 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Prominent superficial veins, Insulin-resistant diabetes mell... |
OMIM:151660 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction |
ORPHA:141127 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Congenital hypothyroidism |
ORPHA:2519 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia |
ORPHA:99901 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Intrauterine growth retardation, Neonatal hypoglycemia |
ORPHA:572798 |
Double Outlet Left Ventricle |
|
Tachypnea |
ORPHA:3427 |
Deeah Syndrome |
|
Neonatal respiratory distress, Short stature, Decreased response to growth hormone stimulation te... |
OMIM:619004 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Inappropriate antidiuretic hormone secretion, Hypot... |
ORPHA:79330 |
Prader-Willi Syndrome |
|
Hypoventilation, Short stature, Hypogonadotropic hypogonadism, Decreased response to growth hormo... |
OMIM:176270 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress |
ORPHA:329178 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Neonatal respiratory distress, Hypoketotic hypoglycemia |
ORPHA:157 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Hypoglycemia |
OMIM:614501 |
Goodpasture Syndrome |
|
Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional dyspnea |
OMIM:233450 |
Tarp Syndrome |
|
Intrauterine growth retardation, Cyanosis, Apnea |
ORPHA:2886 |
Menkes Disease |
|
Spontaneous hematomas, Intrauterine growth retardation, Hypoglycemia, Prolonged neonatal jaundice |
ORPHA:565 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Short stature |
OMIM:610536 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... |
ORPHA:97214 |
Transcobalamin Ii Deficiency |
|
Lethargy |
OMIM:275350 |
Alg12-Cdg |
|
Decreased serum insulin-like growth factor 1, Recurrent pneumonia, Recurrent hypoglycemia, Chroni... |
ORPHA:79324 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Female hypogonadism, Decreased serum leptin, Insul... |
ORPHA:740 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Tachypnea |
ORPHA:415 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Rhizomelia, Short stature, Recurrent pneumonia, Chronic lung disease |
OMIM:613848 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Respiratory insuffic... |
ORPHA:536467 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores... |
ORPHA:3342 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... |
OMIM:187300 |
Holoprosencephaly |
|
Diabetes mellitus, Hypoglycemia, Panhypopituitarism, Respiratory insufficiency, Anterior hypopitu... |
ORPHA:2162 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Spinocerebellar trac... |
ORPHA:276244 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Ecchymosis, Purpura |
ORPHA:319213 |
Exercise-Induced Malignant Hyperthermia |
|
Crackles, Tachypnea, Hypocapnia, Lethargy, Flushing |
ORPHA:466650 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hyperventilation |
OMIM:618775 |
Farber Disease |
|
Respiratory distress, Short stature, Respiratory insufficiency |
ORPHA:333 |
Fucosidosis |
|
Hypothyroidism, Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
Achondroplasia |
|
Respiratory distress, Neonatal short-limb short stature, Rhizomelia, Upper airway obstruction |
OMIM:100800 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy |
OMIM:201470 |
Oculodentodigital Dysplasia |
|
Hypoglycemia |
ORPHA:2710 |
Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect, Neonatal short-trunk short stature |
OMIM:183900 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Short stature, Abnormality of thyroid physiology |
OMIM:300968 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Tracheomalacia |
OMIM:217980 |
Pitt-Hopkins Syndrome |
|
Postnatal growth retardation, Growth delay, Acrocyanosis, Abnormal pattern of respiration, Hyperv... |
ORPHA:2896 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Amoebiasis Due To Free-Living Amoebae |
|
Lethargy, Sinusitis, Pneumonia, Abnormality of the adrenal glands |
ORPHA:68 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Postnatal growth retardation, ... |
OMIM:620305 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Growth delay, Decreased sensitivity to hypoxemia, Acrocyanosis |
OMIM:223900 |
Diamond-Blackfan Anemia 10 |
|
Growth delay, Short stature, Respiratory distress |
OMIM:613309 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
Trichinellosis |
|
Lethargy, Apathy |
ORPHA:863 |
Japanese Encephalitis |
|
Respiratory distress, Respiratory paralysis, Inappropriate antidiuretic hormone secretion, Abnorm... |
ORPHA:79139 |
Medulloblastoma |
|
Lethargy |
ORPHA:616 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent pneumonia |
OMIM:617303 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology |
OMIM:601162 |
Developmental And Epileptic Encephalopathy 2 |
|
Hyperventilation |
OMIM:300672 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Neonatal respiratory distress, Hypoketotic hypoglycemia |
ORPHA:228308 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... |
OMIM:610655 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Lethargy |
OMIM:277400 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Fasting hypoglycemia |
ORPHA:25 |
Tyrosinemia, Type I |
|
Growth delay, Hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:276700 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cutis marmorata, Pulmonary embolism, Dyspnea, Angioedema, Asthma, Urticaria... |
ORPHA:3260 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia |
ORPHA:1848 |
Perlman Syndrome |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:267000 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Th... |
ORPHA:31204 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Recurrent pneumonia, Hyperinsulinemia |
OMIM:613327 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Hypoglycemia |
OMIM:301066 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
Citrullinemia, Classic |
|
Lethargy |
OMIM:215700 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea |
OMIM:115197 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Short stature |
OMIM:260400 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Short stature, Decreased response to growth hormone stimulation test, Hypog... |
ORPHA:177907 |
Atelis Syndrome 2 |
|
Dyspnea, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Aspiration, Apnea, Flushing |
ORPHA:2131 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Orofaciodigital Syndrome Type 2 |
|
Tachypnea, Apnea |
ORPHA:2751 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Dep... |
ORPHA:805 |
Scorpion Envenomation |
|
Abnormal nasal mucus secretion, Tachypnea |
ORPHA:466677 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis |
ORPHA:268943 |
Q Fever |
|
Respiratory distress, Pneumonia, Cough, Pleural effusion, Purpura |
ORPHA:781 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation |
ORPHA:255210 |
Costello Syndrome |
|
Short stature, Hypoglycemia, Pneumothorax, Respiratory insufficiency, Respiratory failure, Trache... |
OMIM:218040 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Lethargy |
OMIM:311250 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
Primary Fanconi Renotubular Syndrome |
|
Growth delay, Hypoglycemia, Glycosuria |
ORPHA:3337 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... |
ORPHA:340 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress |
ORPHA:1555 |
Holoprosencephaly 1 |
|
Short stature, Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia |
OMIM:236100 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
Atypical Werner Syndrome |
|
Prominent superficial veins, Diabetes mellitus, Telangiectasia of the skin, Prematurely aged appe... |
ORPHA:79474 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Restrictive ventilatory defect, Erythema, Cough |
ORPHA:537 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Maternal diabetes, Postnatal growth retardation, Pneumothorax, Birth length... |
ORPHA:3404 |
Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Cutis marmorata, Short stature, Prolonged neonatal jaundice, Acrocyanosis, Hyp... |
ORPHA:51 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Intrauter... |
ORPHA:2554 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Palmoplantar cutis laxa, Respiratory distress |
OMIM:123790 |
Argininosuccinic Aciduria |
|
Lethargy |
OMIM:207900 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress |
OMIM:612852 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Respiratory failure, Chylothorax |
OMIM:620278 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion |
ORPHA:1546 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea |
ORPHA:99050 |
Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Pulmonary arterial hypertension, Stridor, Airway obstruction |
ORPHA:505248 |
Mgat2-Cdg |
|
Respiratory distress, Abnormality of the endocrine system |
ORPHA:79329 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Severe short stature |
ORPHA:1051 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Growth delay, Stridor, Respiratory failur... |
ORPHA:79404 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... |
ORPHA:365 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Hyperparathyroidism |
OMIM:618188 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Apnea, Hyperventilation |
OMIM:617799 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Intermittent hyperventilation |
ORPHA:163681 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology |
ORPHA:100070 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Short stature, Apnea, Asthma, Ectopic thyroid, Intrauterine growth retardat... |
ORPHA:3206 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Pleural effusion |
OMIM:620369 |
Kufor-Rakeb Syndrome |
|
Bradykinesia, Lethargy, Apathy |
ORPHA:306674 |
Lysinuric Protein Intolerance |
|
Lethargy, Decreased response to growth hormone stimulation test, Respiratory insufficiency |
ORPHA:470 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Hyperventilation |
ORPHA:522077 |
Diamond-Blackfan Anemia |
|
Growth delay, Lethargy, Short stature |
ORPHA:124 |
Meier-Gorlin Syndrome 1 |
|
Birth length less than 3rd percentile, Intrauterine growth retardation, Emphysema, Respiratory di... |
OMIM:224690 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... |
OMIM:201750 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Neonatal insulin-dependent diabetes mellitus, Congenital hypothyroidism, In... |
ORPHA:2255 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles |
OMIM:305100 |
Adnp Syndrome |
|
Respiratory distress, Aspiration, Short stature |
ORPHA:404448 |
Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Diabetes mellitus, Hypergonadotropic hypogona... |
ORPHA:273 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis |
OMIM:617478 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Disproportionate short-limb ... |
OMIM:114290 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Decreased serum leptin, Hyperinsulinemia,... |
OMIM:608594 |
Familial Dysautonomia |
|
Growth delay, Acrocyanosis |
ORPHA:1764 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Hyperventilation |
OMIM:618050 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cyanosis |
OMIM:306955 |
Truncus Arteriosus |
|
Cyanosis, Tachypnea, Hypoplasia of the thymus, Intrauterine growth retardation, Adrenocortical ab... |
ORPHA:3384 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:210122 |
Osteoglophonic Dysplasia |
|
Growth delay, Severe short stature, Rhizomelia, Respiratory distress |
OMIM:166250 |
Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Abnormality of the endocrine system, Pleural empyema, Cough, Exu... |
ORPHA:228123 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperglycemia, Tachypnea, Hypoglycemia |
OMIM:220111 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Severe short stature, Dyspnea, Erythema, Growth delay, Respiratory failure |
ORPHA:2556 |
Listeriosis |
|
Respiratory distress, Jaundice, Pneumonia, Respiratory failure |
ORPHA:533 |
Simpson-Golabi-Behmel Syndrome |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia |
ORPHA:373 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Intermittent hyperventilation |
OMIM:300749 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Moderately short stature, Short stature, Neonatal respiratory distress |
OMIM:119600 |
Scimitar Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough |
ORPHA:185 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Growth delay, Intrauterine growth retardatio... |
OMIM:616268 |
Beckwith-Wiedemann Syndrome |
|
Adrenocortical cytomegaly, Hypoglycemia, Adrenocortical carcinoma, Pseudohypoparathyroidism, Hypo... |
ORPHA:116 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Decreased serum leptin, Hyperinsulinemia, Insulin-resistant ... |
OMIM:269700 |
Dermatomyositis |
|
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial... |
ORPHA:221 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Depression, ... |
ORPHA:95455 |
Pitt-Hopkins Syndrome |
|
Intermittent hyperventilation |
OMIM:610954 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Short stature, Premature thelarche, Postnatal growth retardation, Growth delay |
OMIM:180849 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... |
ORPHA:99125 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Fragile skin |
OMIM:614748 |
Pineoblastoma |
|
Lethargy |
ORPHA:251909 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Short stature, High urinary gonadotropin level, Postnatal growth retardation, Increased circulati... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Short stature, High urinary gonadotropin level, Postnatal growth retardation, Increased circulati... |
ORPHA:99228 |
Monosomy X |
|
Short stature, High urinary gonadotropin level, Postnatal growth retardation, Increased circulati... |
ORPHA:99226 |
Turner Syndrome |
|
Short stature, High urinary gonadotropin level, Postnatal growth retardation, Increased circulati... |
ORPHA:881 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress |
OMIM:615273 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Neonatal hypoglycemia |
ORPHA:457359 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology |
OMIM:614298 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Respiratory distress |
ORPHA:83617 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis |
ORPHA:48435 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Beckwith-Wiedemann Syndrome |
|
Adrenocortical carcinoma, Adrenocortical cytomegaly, Neonatal hypoglycemia |
OMIM:130650 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Streak ovary, Recurrent pneumonia, Central hypothyroidism |
ORPHA:798 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Infancy onset short-trunk short stature, Ectopic posterior pituitary, Short... |
ORPHA:508488 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Nasal flaring |
ORPHA:466943 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Pulmonary arterial hypertension, Cyanosis, Adrenal calcification |
ORPHA:51608 |
Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Leptospirosis |
|
Respiratory distress, Pleural effusion, Jaundice, Cough |
ORPHA:509 |
Alström Syndrome |
|
Respiratory distress, Dorsocervical fat pad, Short stature, Decreased response to growth hormone ... |
ORPHA:64 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Short stature |
OMIM:617088 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Abnormal circulating thyroid hormone concentration, Short stature, Delayed ... |
ORPHA:480880 |
Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... |
ORPHA:287 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
Hypermobile Ehlers-Danlos Syndrome |
|
Acrocyanosis, Apnea, Depression |
ORPHA:285 |
Doors Syndrome |
|
Respiratory distress, Adrenal hyperplasia, Aspiration pneumonia, Congenital hypothyroidism |
ORPHA:79500 |
Plague |
|
Respiratory distress, Acute infectious pneumonia, Depression |
ORPHA:707 |
Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata, Short stature |
OMIM:303600 |
Pmm2-Cdg |
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Respiratory distress, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentr... |
ORPHA:79318 |
Congenitally Corrected Transposition Of The Great Arteries |
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Cyanosis |
ORPHA:216694 |
Sotos Syndrome |
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Neonatal hypoglycemia, Prolonged neonatal jaundice, Hypothyroidism, Pulmonary bleb, Flushing |
ORPHA:821 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Respiratory distress, Short stature, Recurrent pneumonia, Growth delay, Intrauterine growth retar... |
ORPHA:99646 |
Pallister-Killian Syndrome |
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Apneic episodes in infancy, Hyperventilation |
OMIM:601803 |
Congenital Fibrosis Of Extraocular Muscles |
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Optic nerve hypoplasia |
ORPHA:45358 |
Fibrosis Of Extraocular Muscles, Congenital, 2 |
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OMIM:602078 |