Riboflavin Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:615026 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:610006 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Hypoglycemia, Hypothermia |
OMIM:245400 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
Idiopathic Congenital Hypothyroidism |
|
Umbilical hernia, Hypothermia |
ORPHA:95717 |
Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Umbilical hernia, Hypothermia, Large for gestational age |
ORPHA:226313 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia |
OMIM:614654 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Hypothermia, Fasting hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:159 |
Timothy Syndrome |
|
Hypoglycemia, Hypothermia |
OMIM:601005 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Inguinal hernia, Hypothermia |
OMIM:614498 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Elbow flexion contrac... |
OMIM:618493 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Hypothermia, Overweight, Obesity, Hypoketotic hypoglycemia |
ORPHA:26793 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Fever, Anorexia, Hypothermia, Weight loss, Recurrent hypoglycemia |
ORPHA:20 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Failure to thrive, Hypoglycemia, Hypothermia |
OMIM:618329 |
Meningococcal Meningitis |
|
Fever, Hypothermia, Anorexia |
ORPHA:33475 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Hypoglycemia, Hypothermia |
OMIM:251880 |
Familial Thyroid Dyshormonogenesis |
|
Umbilical hernia, Hypothermia |
ORPHA:95716 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia, Hypothermia |
ORPHA:230 |
Alexander Disease |
|
Diabetes mellitus, Hypothermia, Self-injurious behavior, Dysphagia, Failure to thrive |
ORPHA:58 |
Menkes Disease |
|
Hypothermia |
OMIM:309400 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Hypothermia |
OMIM:618775 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Fever, Cyanosis, Hypothermia, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
ORPHA:293987 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypoglycemia, Hypothermia, Aggressive behavior, Flexion contracture, Failure to thrive |
ORPHA:17 |
Orthostatic Hypotension 1 |
|
Intermittent hypothermia, Neonatal hypoglycemia |
OMIM:223360 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Umbilical hernia, Failure to thrive, Hypothermia, Attention deficit hyperactivity disorder |
ORPHA:90674 |
Congenital Enterovirus Infection |
|
Fever, Hypothermia |
ORPHA:292 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Failure to thrive, Hypothermia, Dysphagia |
ORPHA:255210 |
Genetic Transient Congenital Hypothyroidism |
|
Umbilical hernia, Hypothermia |
ORPHA:226316 |
Menkes Disease |
|
Inguinal hernia, Hypoglycemia, Hypothermia, Atypical scarring of skin, Hernia, Umbilical hernia, ... |
ORPHA:565 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Failure to thrive, Hypoglycemia, Hypothermia |
ORPHA:79282 |
Ethylene Glycol Poisoning |
|
Cyanosis, Addictive alcohol use, Hypothermia |
ORPHA:31826 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Temperature instability, Flexion contracture, Hypothermia, Dysphagia |
ORPHA:99027 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Temperature instability, Tongue thrusting, Intermittent hypothermia |
OMIM:608643 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Overweight, Umbilical hernia, Hypoglycemia, Hypothermia |
ORPHA:226307 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Umbilical hernia, Hypothermia |
ORPHA:90673 |
Neuroleptic Malignant Syndrome |
|
Fever, Agitation, Hypothermia, Dysphagia |
ORPHA:94093 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Fasciitis, Unexplained fevers, Impulsivity, Hypothermia, Corneal scar... |
ORPHA:642 |
Tbck-Related Intellectual Disability Syndrome |
|
Hypothermia |
ORPHA:488632 |
Occipital Horn Syndrome |
|
Inguinal hernia, Femoral hernia, Scarring, Hypothermia, Hiatus hernia, Atypical scarring of skin,... |
ORPHA:198 |
Marburg Hemorrhagic Fever |
|
Fever, Hypoglycemia, Hypothermia, Anorexia, Aggressive behavior |
ORPHA:99826 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Umbilical hernia, Hypothermia |
OMIM:218700 |
Sarcoidosis |
|
Fever, Scarring, Hypothermia, Weight loss |
ORPHA:797 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Hypothermia, Stereotypical hand wringing, Dysphagia |
ORPHA:438213 |