Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Gait ataxia, Dysphagia, Hyperactivity, Impulsivity |
OMIM:620448 |
Pick Disease Of Brain |
|
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition |
OMIM:172700 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity, Simplified gyral pattern |
OMIM:613402 |
Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
Frontotemporal Dementia |
|
Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:600274 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia |
ORPHA:411515 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Polyphagia |
ORPHA:329249 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Motor stereotypy |
OMIM:613886 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Lissencephaly, Polymicrogyria, Self-mutilation, Abnormality of neuronal migration, Aggressive beh... |
OMIM:604317 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Difficulty walking, Inability to walk, Gait imbalance, Disinhibition, ... |
ORPHA:399 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:369873 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Aggressive behavior, Hyperactivity, Motor stereotypy, Simplified gyral pattern |
OMIM:619470 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia |
OMIM:617113 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Increased adipose tissue |
ORPHA:71529 |
14Q11.2 Microduplication Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Ataxia, Paroxysmal bursts o... |
ORPHA:228402 |
Hyperprolinemia, Type I |
|
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia |
OMIM:239500 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait |
OMIM:301107 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia, Aggressive behavior, Self-mutilation |
OMIM:616521 |
Kleine-Levin Syndrome |
|
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... |
ORPHA:33543 |
Hartnup Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia |
OMIM:234500 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia |
OMIM:618406 |
Obesity And Hypopigmentation |
|
Polyphagia |
OMIM:620195 |
Glycine Encephalopathy 1 |
|
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity |
OMIM:605899 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia |
OMIM:617119 |
Morm Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:75858 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia |
OMIM:614962 |
Obesity |
|
Decreased resting energy expenditure |
OMIM:601665 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Polyphagia, Increased adipose tissue |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Polyphagia, Increased adipose tissue |
ORPHA:71526 |
6Q16 Microdeletion Syndrome |
|
Abnormal temper tantrums, Polyphagia, Broad-based gait |
ORPHA:171829 |
Graves Disease |
|
Polyphagia, Hyperactivity |
OMIM:275000 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Pachygyria, Aggressive behavior, Attention defic... |
OMIM:619827 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Polyphagia, Attention deficit hyperactivity disorder, Overfriendliness |
OMIM:620439 |
Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia |
ORPHA:163690 |
Leptin Receptor Deficiency |
|
Aggressive behavior, Polyphagia, Abnormal eating behavior |
OMIM:614963 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity |
OMIM:619927 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia |
ORPHA:177910 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity |
OMIM:618090 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Polyphagia |
OMIM:620085 |
Chromosome 22Q13 Duplication Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:615538 |
Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis |
ORPHA:382 |
Joubert Syndrome 10 |
|
Polyphagia, Frequent temper tantrums, Dysmetria |
OMIM:300804 |
Schaaf-Yang Syndrome |
|
Skin-picking, Polyphagia, Impulsivity, Inability to walk |
OMIM:615547 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity |
ORPHA:101039 |
Cebalid Syndrome |
|
Polyphagia, Polymicrogyria |
OMIM:618774 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Polyphagia, Agitation |
ORPHA:276556 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... |
OMIM:618718 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Polyphagia, Agitation |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Polyphagia, Agitation |
ORPHA:276580 |
Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Polyphagia, Agitation |
ORPHA:324575 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality |
OMIM:607485 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait |
OMIM:615516 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:615541 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Man1B1-Cdg |
|
Polyphagia, Broad-based gait, Periventricular heterotopia |
ORPHA:397941 |
Temple Syndrome |
|
Polyphagia |
ORPHA:254516 |
Angelman Syndrome |
|
Self-injurious behavior, Broad-based gait, Inability to walk, Inappropriate laughter, Recurrent h... |
ORPHA:72 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Polydipsia |
OMIM:615986 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dysphagia, Impulsivity |
ORPHA:500180 |
Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia |
OMIM:617885 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Aggressive behavior, Hyperactiv... |
ORPHA:3077 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis |
OMIM:620023 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia |
OMIM:606407 |
Fragile X Syndrome |
|
Periventricular heterotopia, Recurrent hand flapping, Hyperactivity, Self-biting |
OMIM:300624 |
Pediatric-Onset Graves Disease |
|
Polyphagia, Polydipsia, Hyperactivity |
ORPHA:525731 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag... |
OMIM:156200 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301013 |
Luscan-Lumish Syndrome |
|
Polyphagia, Aggressive behavior |
OMIM:616831 |
Wagro Syndrome |
|
Compulsive behaviors, Polyphagia, Aggressive behavior, Agitation |
OMIM:612469 |
Insulinoma |
|
Polyphagia |
ORPHA:97279 |
Spontaneous Periodic Hypothermia |
|
Gait disturbance, Hypothermia, Ataxia |
ORPHA:29822 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia |
OMIM:609734 |
Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Hypothermia |
OMIM:618557 |
Obesity Due To Congenital Leptin Deficiency |
|
Polyphagia |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Polyphagia |
ORPHA:179494 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Broad-based gait, Self-mutilation, Polyphagia, Aggressive behavior, Restlessness |
ORPHA:251028 |
N-Acetylglutamate Synthase Deficiency |
|
Aggressive behavior, Hypothermia, Anorexia |
OMIM:237310 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Self-injurious behavior, Abnormal temper tantrums, Bulimia, Obsessive-compulsive trait, Polyphagi... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Self-injurious behavior, Abnormal temper tantrums, Bulimia, Obsessive-compulsive trait, Polyphagi... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Self-injurious behavior, Abnormal temper tantrums, Bulimia, Obsessive-compulsive trait, Polyphagi... |
ORPHA:177901 |
Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia |
OMIM:300942 |
7Q11.23 Microduplication Syndrome |
|
Self-injurious behavior, Dysmetria, Aggressive behavior, Polyphagia, Hyperactivity, Collectionism... |
ORPHA:96121 |
Secondary Short Bowel Syndrome |
|
Polyphagia |
ORPHA:95427 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Self-injurious behavior, Abnormal temper tantrums, Bulimia, Polyphagia, Skin-picking, Perisylvian... |
ORPHA:98754 |
Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere... |
OMIM:610042 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Abnormal temper tantrums, Polyphagia, Skin-picking, Compulsive behaviors, Impulsivity |
ORPHA:398069 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Self-injurious behavior, Polydipsia, Narcolepsy, Cyanosis, Hypothermia, Polyphagia, Aggressive be... |
ORPHA:293987 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Abnormal temper tantrums, Polyphagia, Skin-picking |
ORPHA:398079 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:85327 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia |
ORPHA:251004 |
Riboflavin Deficiency |
|
Hypothermia |
OMIM:615026 |
Gangliocytoma |
|
Polyphagia |
ORPHA:251937 |
Adnp Syndrome |
|
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Polyphagia, Attention deficit hyperactivity ... |
ORPHA:404448 |
Prader-Willi Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder, Perisylvian polymicrogyria |
ORPHA:739 |
Prader-Willi Syndrome |
|
Self-injurious behavior, Polyphagia, Attention deficit hyperactivity disorder |
OMIM:176270 |
Meningococcal Meningitis |
|
Hypothermia, Anorexia |
ORPHA:33475 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
OMIM:610006 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia |
OMIM:614654 |
Weaver Syndrome |
|
Polyphagia |
OMIM:277590 |
Helsmoortel-Van Der Aa Syndrome |
|
Bruxism, Polyphagia, Attention deficit hyperactivity disorder, Dysphagia, Hyperactivity, Compulsi... |
OMIM:615873 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:95717 |
X-Linked Acrogigantism |
|
Polyphagia, Ataxia |
ORPHA:300373 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Broad-based gait, Fixated interests, Hair-pulling, Polyphagia, Attention... |
OMIM:620330 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia |
OMIM:245400 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Polyphagia, Lipodystrophy, Reduced intraabdominal adipose ti... |
OMIM:608594 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypothermia |
OMIM:614498 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Polyphagia, Lipodystrophy, Reduced intraabdominal adipose ti... |
OMIM:269700 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Gait ataxia, Hypothermia, Dysmetria, Gait disturbance, Ataxia, Spastic gait, Dysphagia, Dysdiadoc... |
ORPHA:99027 |
Craniopharyngioma |
|
Polyphagia |
ORPHA:54595 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Ataxia, Hyperactivity, Simplified gyral pattern |
OMIM:620047 |
Niemann-Pick Disease Type C |
|
Narcolepsy, Disinhibition, Aggressive behavior, Progressive gait ataxia, Gait disturbance, Ataxia... |
ORPHA:646 |
Pseudohypoparathyroidism Type 1C |
|
Polyphagia |
ORPHA:79444 |
Alexander Disease |
|
Self-injurious behavior, Hypothermia, Gait disturbance, Ataxia, Dysphagia |
ORPHA:58 |
Pseudohypoparathyroidism Type 1A |
|
Polyphagia, Choreoathetosis |
ORPHA:79443 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Ethylene Glycol Poisoning |
|
Hypothermia, Addictive alcohol use, Cyanosis, Ataxia |
ORPHA:31826 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Intermittent hypothermia, Athetosis, Tongue thrusting, Choreoathetosis |
OMIM:608643 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Attention deficit hyperactivity disorder, Hypothermia |
ORPHA:90674 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia |
ORPHA:226313 |
Timothy Syndrome |
|
Hypothermia |
OMIM:601005 |
Menkes Disease |
|
Hypothermia |
OMIM:309400 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Ataxia |
OMIM:604121 |
Familial Thyroid Dyshormonogenesis |
|
Hypothermia |
ORPHA:95716 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Hypothermia, Anorexia |
ORPHA:20 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Inability to walk, Unsteady gait, Hypothermia |
OMIM:618493 |
1P36 Deletion Syndrome |
|
Self-injurious behavior, Polyphagia, Gait disturbance, Dysphagia, Motor stereotypy |
ORPHA:1606 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypothermia, Cyanosis |
ORPHA:159 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Polymicrogyria, Oppositional defiant disorder, Self-mutilation, Aggressive behavior, Polyphagia, ... |
OMIM:607872 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Gait ataxia, Dysphagia, Hypothermia, Ataxia |
ORPHA:255210 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Aggressive behavior, Unsteady gait, Hypothermia, Choreoathetosis |
ORPHA:17 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Inability to walk, Decreased resting energy expenditure, Impaired oropharyngeal swallow response,... |
ORPHA:404454 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
Neuroleptic Malignant Syndrome |
|
Dysphagia, Hypothermia, Agitation |
ORPHA:94093 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy, Ataxia |
ORPHA:314404 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Difficulty walking, Hypothermia, Self-mutilation, Hyperactivity, Nail-biting, Dysphagia, Impulsivity |
ORPHA:642 |
Congenital Enterovirus Infection |
|
Hypothermia |
ORPHA:292 |
Sepsis In Premature Infants |
|
Hypothermia, Cyanosis |
ORPHA:90051 |
Tbck-Related Intellectual Disability Syndrome |
|
Inability to walk, Hypothermia |
ORPHA:488632 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
ORPHA:26793 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypothermia |
OMIM:618775 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypothermia |
OMIM:618329 |
African Trypanosomiasis |
|
Narcolepsy, Difficulty walking, Akinesia, Aggressive behavior, Gait disturbance, Choreoathetosis |
ORPHA:3385 |
Genetic Transient Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:226316 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypothermia |
OMIM:251880 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia |
ORPHA:90673 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia |
ORPHA:230 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypothermia, Ataxia |
ORPHA:79282 |
Occipital Horn Syndrome |
|
Dysphagia, Hypothermia |
ORPHA:198 |
Marburg Hemorrhagic Fever |
|
Aggressive behavior, Hypothermia, Anorexia |
ORPHA:99826 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Inability to walk, Hypothermia, Stereotypical hand wringing, Dysphagia |
ORPHA:438213 |
Menkes Disease |
|
Hypothermia |
ORPHA:565 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypothermia |
ORPHA:226307 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia |
OMIM:218700 |
Alström Syndrome |
|
Polyphagia, Dorsocervical fat pad, Ataxia |
ORPHA:64 |
Sarcoidosis |
|
Hypothermia |
ORPHA:797 |