Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Obesity, Childhood-onset truncal obesity, Increased adipose tissue |
ORPHA:71529 |
Fever, Familial Lifelong Persistent |
|
Fever |
OMIM:228400 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Obesity, Tall stature |
OMIM:618406 |
Achalasia-Microcephaly Syndrome |
|
Achalasia |
OMIM:200450 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Obesity And Hypopigmentation |
|
Overgrowth, Polyphagia, Obesity |
OMIM:620195 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Fever |
ORPHA:183713 |
Familial Cold Autoinflammatory Syndrome 4 |
|
Fever |
OMIM:616115 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Achalasia |
ORPHA:2400 |
Anhidrosis, Isolated, With Normal Sweat Glands |
|
Heat intolerance |
OMIM:106190 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Obesity, Aggressive behavior |
ORPHA:329249 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Achalasia |
ORPHA:3239 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Obesity, Failure to thrive, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Obesity, Failure to thrive, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71526 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Achalasia, Dysphagia |
OMIM:300858 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Abdominal pain,... |
OMIM:611376 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Achalasia |
OMIM:221350 |
Achalasia, Familial Esophageal |
|
Achalasia, Xerostomia |
OMIM:200400 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Fever |
ORPHA:319600 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia, Obesity |
OMIM:614962 |
Leptin Receptor Deficiency |
|
Abnormal eating behavior, Polyphagia, Obesity, Aggressive behavior |
OMIM:614963 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Achalasia-Microcephaly Syndrome |
|
Achalasia |
ORPHA:929 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea, Ataxia, Hypothermia |
ORPHA:29822 |
14Q11.2 Microduplication Syndrome |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
Malignant Hyperthermia, Susceptibility To, 4 |
|
Malignant hyperthermia |
OMIM:600467 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder |
ORPHA:369873 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Obesity |
ORPHA:177910 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Polyphagia, Inappropriate laughter, Obesity |
ORPHA:411515 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Hypoperistalsis |
OMIM:619365 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Achalasia, Dysphagia |
OMIM:615750 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Developmental And Epileptic Encephalopathy 78 |
|
Chorea, Hypothermia |
OMIM:618557 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioception, Sensory ataxia,... |
OMIM:609033 |
Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia, Obesity |
OMIM:617885 |
Sudden Infant Death Syndrome |
|
Malignant hyperthermia |
OMIM:272120 |
Riboflavin Deficiency |
|
Poor suck, Hypothermia |
OMIM:615026 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol use, Agitation, Co... |
ORPHA:399 |
Immunodeficiency 70 |
|
Celiac disease, Achalasia, Colitis |
OMIM:618969 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Polydipsia, Polyphagia, Obesity |
OMIM:615986 |
Pontiac Fever |
|
Fever |
ORPHA:99748 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Temple Syndrome |
|
Small for gestational age, Polyphagia, Obesity |
ORPHA:254516 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Agitation, Polyphagia, Large for gestational age |
ORPHA:276556 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Skin-picking, Camptodact... |
OMIM:615547 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Agitation, Polyphagia, Large for gestational age |
ORPHA:324575 |
Triple A Syndrome |
|
Achalasia, Ataxia |
ORPHA:869 |
Cyclic Neutropenia |
|
Fever |
OMIM:162800 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Agitation, Polyphagia, Large for gestational age |
ORPHA:276575 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
Dystonia-Deafness Syndrome 1 |
|
Achalasia, Pseudobulbar paralysis, Dysphagia |
OMIM:607371 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Agitation, Polyphagia, Large for gestational age |
ORPHA:276580 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morpholo... |
ORPHA:1018 |
Tetrasomy 18P |
|
Achalasia |
ORPHA:3307 |
American Trypanosomiasis |
|
Fever, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Diarrhea, Acha... |
ORPHA:3386 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Feeding difficulties in infancy, Exaggerated startle response, Gastroesophageal reflux, Hypothermia |
OMIM:608800 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
OMIM:610006 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Gastroesophageal reflux, Hypothermia |
ORPHA:168593 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperis... |
ORPHA:2241 |
Idiopathic Congenital Hypothyroidism |
|
Feeding difficulties in infancy, Constipation, Hypothermia |
ORPHA:95717 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia, Feeding difficulties |
OMIM:614654 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Small intestinal dysmotility, Gastrostomy tube feeding in infancy, Feeding difficulties, Chronic ... |
OMIM:619482 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Achalasia |
ORPHA:436174 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Cholangiocarcinoma |
|
Fever, Anorexia |
ORPHA:70567 |
Undifferentiated Pleomorphic Sarcoma |
|
Fever, Anorexia |
ORPHA:2023 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Dysphagia, Hypoperistalsis |
ORPHA:167635 |
Luscan-Lumish Syndrome |
|
Overgrowth, Polyphagia, Obesity, Aggressive behavior |
OMIM:616831 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia, Obesity |
OMIM:609734 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Achalasia, Dysphagia |
ORPHA:79107 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Intermittent hypothermia, Feeding difficulties in infancy, Diarrhea... |
OMIM:608643 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Achalasia, Dysphagia |
ORPHA:289483 |
Meningococcal Meningitis |
|
Fever, Projectile vomiting, Hypothermia, Anorexia, Paresthesia |
ORPHA:33475 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Feeding difficulties in infancy, Abdominal distention, Constipation, Protuberant abd... |
ORPHA:226313 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
Man1B1-Cdg |
|
Truncal obesity, Polyphagia |
ORPHA:397941 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
OMIM:606407 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia |
OMIM:612469 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Progressive Nodular Histiocytosis |
|
Fever |
ORPHA:158022 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypothermia, Feeding difficulties |
OMIM:614498 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia, Feeding difficulties |
OMIM:245400 |
Chromosome Xq26.3 Duplication Syndrome |
|
Overgrowth, Polyphagia, Tall stature |
OMIM:300942 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Celiac disease, Achalasia, Abnormal intestine morphology, Exocrine pancreatic insufficiency |
OMIM:615952 |
Obesity Due To Congenital Leptin Deficiency |
|
Polyphagia, Obesity |
ORPHA:66628 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Fever, Periodic fever |
OMIM:617772 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Insulinoma |
|
Polyphagia, Increased body weight |
ORPHA:97279 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Polyphagia, Obesity |
ORPHA:179494 |
Familial Thyroid Dyshormonogenesis |
|
Feeding difficulties in infancy, Constipation, Hypothermia |
ORPHA:95716 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Achalasia, Gastroesophageal reflux, Feeding difficulties |
OMIM:600987 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age |
OMIM:601820 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Abnormality of temperature regulation, Aganglionic megacolon, Feeding difficulties, Chronic const... |
OMIM:209880 |
Angelman Syndrome |
|
Hyperactivity, Aggressive behavior, Tongue thrusting, Obesity, Self-injurious behavior, Inappropr... |
ORPHA:72 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Hypothermia, Impaired distal vibration sensation, Impaired proprioception, Malnutrition, ... |
ORPHA:99027 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Somatic sensory dysfunction, Esophageal stenosis, Ataxia, Feeding difficulties, Dysphagia, Achalasia |
OMIM:615510 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Large for gestational age, Self-injurious behavior, Agitation, Aggressive behavior |
OMIM:616116 |
Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Intestinal malrotation, Hypoperistalsis |
OMIM:613834 |
Hyperthermia, Cutaneous, With Headaches And Nausea |
|
Fever |
OMIM:145590 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Somatic sensory dysfunction, Anorexia, Abdominal pain, Nausea, Abdominal distention, Impaired tac... |
ORPHA:51890 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Ataxia, Chorea, Feeding difficulties, Athetosis, Esophagitis, Truncal ataxia, Achalasia |
OMIM:615356 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Abnormal dental enamel morphology, Obesity |
ORPHA:251004 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Overweight, Recurrent hand flapping, Pica, Tall stature |
OMIM:615032 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Constipation, Hypothermia |
OMIM:618493 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impulsivity, Flexion contracture, Increased body weight, Abdominal obesity, Abnormal temper tantr... |
ORPHA:398069 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Bulimia, Obesity |
OMIM:614651 |
Cystic Fibrosis, Modifier Of, 1 |
|
Meconium ileus |
OMIM:603855 |
Pediatric-Onset Graves Disease |
|
Failure to thrive, Hyperactivity, Polydipsia, Polyphagia |
ORPHA:525731 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Achalasia, Ataxia |
OMIM:231550 |
Chronic Recurrent Multifocal Osteomyelitis 3 |
|
Fever |
OMIM:259680 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Polyphagia, Weight loss |
ORPHA:95427 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Obesity, Abdominal obesity, Skin-picking, Abnormal temper tantrums, Failure to thrive, Polyphagia |
ORPHA:398079 |
Menkes Disease |
|
Hypothermia |
OMIM:309400 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Failure to thrive, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Failure to thrive, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Failure to thrive, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal... |
ORPHA:177901 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormality of temperature regulation, Heat intolerance |
ORPHA:2926 |
Mirage Syndrome |
|
Achalasia, Chronic diarrhea, Gastroesophageal reflux, Esophageal stricture |
OMIM:617053 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Timothy Syndrome |
|
Hypothermia |
OMIM:601005 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal temper tantrums, S... |
ORPHA:98754 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Fever |
OMIM:614674 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... |
OMIM:156200 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Ataxia, Hypothermia, Anorexia, Reye syndrome-like episodes, Diarrhea, Episodic vomiting |
ORPHA:20 |
Genetic Transient Congenital Hypothyroidism |
|
Constipation, Hypothermia, Feeding difficulties |
ORPHA:226316 |
Congenital Enterovirus Infection |
|
Fever, Hepatic failure, Hypothermia |
ORPHA:292 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Ataxia, Hypothermia, Chorea, Gait ataxia, Dysphagia, Hepatic failure, Episodic vomiting |
ORPHA:255210 |
Spinocerebellar Ataxia Type 3 |
|
Progressive cerebellar ataxia, Abnormality of temperature regulation |
ORPHA:98757 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Pain insensitivity, Achalasia, Distal sensory impairment |
OMIM:616007 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Alexander Disease |
|
Nausea and vomiting, Ataxia, Hypothermia, Bowel incontinence, Chorea, Constipation, Dysphagia |
ORPHA:58 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Isolated Congenital Alacrima |
|
Achalasia |
ORPHA:91416 |
Adnp Syndrome |
|
Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal temper... |
ORPHA:404448 |
Prader-Willi Syndrome |
|
Failure to thrive in infancy, Obesity, Self-injurious behavior, Abdominal obesity, Attention defi... |
OMIM:176270 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Reduce... |
OMIM:608594 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Feeding difficulties in infancy, Hypothermia |
OMIM:618775 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi... |
ORPHA:96121 |
Weaver Syndrome |
|
Inguinal hernia, Overgrowth, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Poly... |
OMIM:277590 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Feeding difficulties in infancy, Hepatic failure, Vomiting, Hypothermia |
OMIM:251880 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Intestinal per... |
OMIM:603041 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Polyphagia, Self-mutilation, Aggressive behavior |
ORPHA:251028 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatic failure, Hypothermia |
ORPHA:159 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Fever, Malignant hyperthermia |
OMIM:601887 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Vomiting, Hypothermia, Feeding difficulties |
ORPHA:26793 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Hypothermia, Feeding difficulties |
OMIM:618329 |
Ethylene Glycol Poisoning |
|
Gastritis, Ataxia, Hypothermia, Vomiting, Nausea |
ORPHA:31826 |
Neuroleptic Malignant Syndrome |
|
Fever, Hypothermia, Chorea, Vomiting, Dysphagia, Nausea, Nasogastric tube feeding |
ORPHA:94093 |
Dopamine Beta-Hydroxylase Deficiency |
|
Diarrhea, Vomiting, Hypothermia |
ORPHA:230 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Feeding difficulties in infancy, Constipation, Hypothermia |
ORPHA:90673 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Reduce... |
OMIM:269700 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Complex Regional Pain Syndrome |
|
Dysesthesia, Somatic sensory dysfunction, Trophic changes related to pain, Allodynia |
ORPHA:83452 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity |
ORPHA:3077 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
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Omphalocele, Increased body mass index, Increased body weight |
OMIM:614450 |
X-Linked Acrogigantism |
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Increased body mass index, Polyphagia, Tall stature |
ORPHA:300373 |
Hypohidrosis With Abnormal Palmar Dermal Ridges |
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Fever |
OMIM:241120 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
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Attention deficit hyperactivity disorder, Increased body weight, Impulsivity |
ORPHA:589905 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Hypothermia, Feeding difficulties, Choreoathetosis, Gastroesophageal reflux, Vomiting |
ORPHA:17 |
Prader-Willi Syndrome |
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Abdominal obesity, Failure to thrive, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:739 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Agitation, Increased body weight |
ORPHA:276608 |
Helsmoortel-Van Der Aa Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Obesity, Truncal obesity, Compulsive beha... |
OMIM:615873 |
Gm2 Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
ORPHA:309246 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Obesity |
OMIM:264120 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Obesity |
ORPHA:88643 |
Hepatic Veno-Occlusive Disease |
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Increased body weight |
ORPHA:890 |
Gangliocytoma |
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Polyphagia |
ORPHA:251937 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Pain insensitivity, Somatic sensory dysfunction, Hypothermia, Impaired temperature sensation, Dys... |
ORPHA:642 |
Fabry Disease |
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Fever, Nausea and vomiting, Anorexia, Abdominal pain, Malabsorption, Achalasia |
ORPHA:324 |
Menkes Disease |
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Gastrointestinal hemorrhage, Nausea and vomiting, Hypothermia, Malabsorption, Feeding difficultie... |
ORPHA:565 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hypothermia, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Polydip... |
ORPHA:293987 |
Trigeminal Neuralgia |
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Somatic sensory dysfunction, Paresthesia, Allodynia, Feeding difficulties |
ORPHA:221091 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Feeding difficulties in infancy, Constipation, Hypothermia |
ORPHA:90674 |
Pseudohypoparathyroidism Type 1C |
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Enamel hypoplasia, Polyphagia, Obesity |
ORPHA:79444 |
Smith-Magenis Syndrome |
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Hyperactivity, Self hugging, Increased body weight, Head-banging, Onychotillomania, Abnormal repe... |
OMIM:182290 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Stomatitis, Ataxia, Hypothermia, Feeding difficulties |
ORPHA:79282 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Craniopharyngioma |
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Polyphagia, Obesity |
ORPHA:54595 |
Polycystic Ovary Syndrome 1 |
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Obesity |
OMIM:184700 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response |
OMIM:609541 |
Occipital Horn Syndrome |
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Gastroparesis, Hypothermia, Hiatus hernia, Gastroesophageal reflux, Esophagitis, Dysphagia, Poor ... |
ORPHA:198 |
Meconium Ileus |
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Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Hypothyroidism, Central, With Testicular Enlargement |
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Overweight |
OMIM:300888 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response |
ORPHA:320406 |
Tbck-Related Intellectual Disability Syndrome |
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Hypothermia |
ORPHA:488632 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
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Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder |
OMIM:274300 |
Stiff-Person Syndrome |
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Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response |
OMIM:620114 |
Marburg Hemorrhagic Fever |
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Fever, Abnormality of the gastrointestinal tract, Hypothermia, Anorexia, Dysesthesia, Abdominal p... |
ORPHA:99826 |
Pseudohypoparathyroidism Type 1A |
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Enamel hypoplasia, Polyphagia, Obesity |
ORPHA:79443 |
Obesity-Hypoventilation Syndrome |
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Obesity |
OMIM:257500 |
Orthostatic Hypotension 1 |
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Intermittent hypothermia |
OMIM:223360 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Feeding difficulties in infancy, Abdominal distention, Constipation, Hypothermia |
OMIM:218700 |
Angelman Syndrome Due To A Point Mutation |
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Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent... |
ORPHA:411511 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
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Obesity |
OMIM:619755 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
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Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia |
ORPHA:254534 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Pfapa Syndrome |
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Abnormality of temperature regulation |
ORPHA:42642 |
Joubert Syndrome 35 |
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Abnormality of temperature regulation, Ataxia |
OMIM:618161 |
Leukodystrophy, Hypomyelinating, 13 |
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Exaggerated startle response |
OMIM:616881 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response |
ORPHA:309155 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
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Self-injurious behavior, Increased body weight, Aggressive behavior |
OMIM:300860 |
1P36 Deletion Syndrome |
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Camptodactyly of finger, Polyphagia, Obesity, Self-injurious behavior, Dysphagia, Failure to thri... |
ORPHA:1606 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response |
OMIM:620327 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Feeding difficulties in infancy, Constipation, Hypothermia |
ORPHA:226307 |
Wilson Disease |
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Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Failure to thrive |
ORPHA:905 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Camptodactyly of finger, Aggressive behavior, Obesity, Camptodactyly, Dysphagia, Polyphagia, Self... |
OMIM:607872 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response, Hypothermia, Feeding difficulties, Gastroesophageal reflux, Constip... |
ORPHA:438213 |
Machado-Joseph Disease Type 1 |
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Progressive cerebellar ataxia, Progressive gait ataxia, Abnormality of temperature regulation, Dy... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
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Progressive cerebellar ataxia, Progressive gait ataxia, Abnormality of temperature regulation, Dy... |
ORPHA:276241 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Exaggerated startle response, Dystonia |
ORPHA:438216 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Abdominal obesity, Increased body weight |
OMIM:615954 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Exaggerated startle response |
OMIM:617864 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
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Dorsocervical fat pad, Increased body weight |
OMIM:615830 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
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Agitation, Increased body weight, Large for gestational age |
ORPHA:263455 |
Machado-Joseph Disease Type 3 |
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Progressive cerebellar ataxia, Progressive gait ataxia, Abnormality of temperature regulation, Dy... |
ORPHA:276244 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response |
OMIM:617301 |
1P21.3 Microdeletion Syndrome |
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Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation |
ORPHA:293948 |
Blue Diaper Syndrome |
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Increased body weight |
ORPHA:94086 |
Sandhoff Disease |
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Exaggerated startle response |
OMIM:268800 |
Sarcoidosis |
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Fever, Abnormality of the gastrointestinal tract, Hypothermia, Decreased liver function, Hepatic ... |
ORPHA:797 |
Beta-Thalassemia |
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Abnormality of temperature regulation |
ORPHA:848 |
Tay-Sachs Disease |
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Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia |
ORPHA:845 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response |
OMIM:617281 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
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Abnormality of temperature regulation |
OMIM:619173 |
Sotos Syndrome |
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Aggressive behavior, Increased body weight, Overgrowth, Attention deficit hyperactivity disorder,... |
OMIM:117550 |
Plaa-Associated Neurodevelopmental Disorder |
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Exaggerated startle response, Dystonia |
ORPHA:521426 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Dystonia |
ORPHA:79255 |
Asparagine Synthetase Deficiency |
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Tremor, Exaggerated startle response |
OMIM:615574 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response |
OMIM:253800 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
Neurotrophic Keratopathy |
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Allodynia, Hyperesthesia |
ORPHA:137596 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response |
OMIM:617527 |
Von Hippel-Lindau Disease |
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Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... |
ORPHA:892 |
Cockayne Syndrome Type 1 |
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Difficulty walking, Abnormality of temperature regulation, Ataxia, Gait disturbance |
ORPHA:90321 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Abdominal obesity, Dorsocervical fat pad, Increased body weight |
ORPHA:189427 |
Stuve-Wiedemann Syndrome 1 |
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Fever, Abnormality of temperature regulation, Recurrent fever, Dysphagia |
OMIM:601559 |
Adrenocortical Carcinoma |
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Increased body weight, Weight loss |
ORPHA:1501 |
Chronic Mucocutaneous Candidiasis |
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Abnormality of temperature regulation |
ORPHA:1334 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Failure to thrive, Increased body weight |
ORPHA:264580 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Increased body weight |
ORPHA:79240 |
Deeah Syndrome |
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Abnormality of temperature regulation, Self-mutilation, Dysphagia |
OMIM:619004 |
Alström Syndrome |
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Truncal obesity, Polyphagia, Obesity, Dorsocervical fat pad |
ORPHA:64 |
Insulin-Resistance Syndrome Type B |
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Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss |
ORPHA:2298 |
Acute Transverse Myelitis |
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Fever, Abnormality of temperature regulation, Gait disturbance |
ORPHA:139417 |
Ulnar-Mammary Syndrome |
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Abnormality of temperature regulation |
ORPHA:3138 |
Benign Schwannoma |
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Intestinal polyposis, Allodynia, Abnormal esophagus morphology |
ORPHA:252164 |
Cushing Disease |
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Truncal obesity, Abdominal obesity, Dorsocervical fat pad, Increased body weight |
ORPHA:96253 |
Hellp Syndrome |
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Increased body weight |
ORPHA:244242 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Dorsocervical fat pad, Anorexia, Increased body weight, Weight loss, Truncal obesity, Abdominal o... |
ORPHA:99889 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response |
OMIM:619522 |
Autosomal Recessive Malignant Osteopetrosis |
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Abnormality of temperature regulation |
ORPHA:667 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Abnormality of temperature regulation, Heat intolerance |
ORPHA:2273 |
Carney Complex |
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Abdominal obesity, Dorsocervical fat pad, Increased body weight, Tall stature |
ORPHA:1359 |