Obesity |
|
Decreased resting energy expenditure |
OMIM:601665 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Hypothermia, Umbilical hernia |
ORPHA:95717 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypothermia |
OMIM:615026 |
Coenzyme Q10 Deficiency, Primary, 5 |
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Hyperalaninemia, Hypothermia |
OMIM:614654 |
Familial Thyroid Dyshormonogenesis |
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Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypothermia, Umbil... |
ORPHA:95716 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
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Hypothermia, Inguinal hernia, Joint contracture |
OMIM:614498 |
N-Acetylglutamate Synthase Deficiency |
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Hyperammonemia, Hypothermia, Hyperglutamatemia, Hyperglutaminemia, Low plasma citrulline, Hyperal... |
OMIM:237310 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypertaurinemia, Hyperglycinemia, Hypothermia |
OMIM:245400 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:159 |
Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
OMIM:610006 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Umbilical hernia |
ORPHA:226313 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Umbilical hernia, Hypothermia, Abnormal circulating thyroglobulin co... |
ORPHA:90674 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... |
ORPHA:26793 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Neonatal hyperbilirubinemia, Hypothermia, Increased circulating thyroglobulin concentration, Umbi... |
ORPHA:90673 |
Menkes Disease |
|
Decreased circulating ceruloplasmin concentration, Hypothermia |
OMIM:309400 |
Genetic Transient Congenital Hypothyroidism |
|
Hypothermia, Increased circulating thyroglobulin concentration, Umbilical hernia |
ORPHA:226316 |
Timothy Syndrome |
|
Hypothermia, Hypocalcemia |
OMIM:601005 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
Meningococcal Meningitis |
|
Elevated circulating C-reactive protein concentration, Hypothermia |
ORPHA:33475 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Elbow flexion contracture, Hypothermia, Hip contracture |
OMIM:618493 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hypothermia, Hyperammonemia |
ORPHA:292 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Hypotriglyceridemia, Corneal scarring, Decreased resting energy expenditure, Decreased LDL choles... |
ORPHA:404454 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Hyperalaninemia, Hypothermia |
OMIM:618329 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hyperbilirubinemia, Hypothermia, Elevated circulating alpha-fetoprotein concentr... |
OMIM:251880 |
Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Hypothermia, Cyanosis |
ORPHA:90051 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... |
ORPHA:94093 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Abnormality of Krebs cycle metabolism, Low plasma citrulline, Hyperalaninemia, Hypothermia |
ORPHA:255210 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Hypothermia, Increased blood urea nitrogen |
ORPHA:230 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypothermia, Elevated circulating creatine kinase concentration |
OMIM:618775 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypothermia, Hyperammonemia, Hyperuricemia |
ORPHA:20 |
Ethylene Glycol Poisoning |
|
Cyanosis, Hypothermia, Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Elevated circulating palmitoleylcarnitine concentration, Hyperammonemia, Hypomethioninemia, Hypot... |
ORPHA:79282 |
Tbck-Related Intellectual Disability Syndrome |
|
Hypothermia, Abnormal circulating lipid concentration |
ORPHA:488632 |
Menkes Disease |
|
Atypical scarring of skin, Chondrocalcinosis, Umbilical hernia, Inguinal hernia, Hypothermia, Hernia |
ORPHA:565 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Flexion contracture, Hypothermia, Methylmalonic acidemia |
ORPHA:17 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hyperbilirubinemia, Hypothermia, Increased circulating thyroglobulin concentration, Umbilical hernia |
OMIM:218700 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Flexion contracture, Hypothermia |
ORPHA:99027 |
Occipital Horn Syndrome |
|
Atypical scarring of skin, Keloids, Inguinal hernia, Hypothermia, Hiatus hernia, Scarring, Femora... |
ORPHA:198 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hypothermia, Hyperlipidemia, Cyanosis |
ORPHA:293987 |
Alexander Disease |
|
Hypothermia |
ORPHA:58 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypothermia, Umbilical hernia |
ORPHA:226307 |
Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... |
ORPHA:99826 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased circulating iron concentration, Hypothermia, Uterine prolapse |
ORPHA:438213 |
Sarcoidosis |
|
Scarring, Hypercalcemia, Hypothermia |
ORPHA:797 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Hypothermia, Atypical scarring of skin, Corneal scarring, Fasciitis |
ORPHA:642 |