| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Short stature, Decreased body weight |
OMIM:616311 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity, Short stature |
DECIPHER:19 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Obesity, Childhood-onset truncal obesity, Increased adipose tissue |
ORPHA:71529 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Short stature |
DECIPHER:8 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms, Short stature |
OMIM:300271 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... |
OMIM:309548 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... |
ORPHA:100973 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Obesity, Growth delay, Delayed puberty, Failure to thrive, Polyphagia, ... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Obesity, Growth delay, Delayed puberty, Failure to thrive, Polyphagia, ... |
ORPHA:71526 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Obesity, Short stature, Aggressive behavior |
ORPHA:329249 |
| Obesity Due To Sim1 Deficiency |
|
Short stature, Obesity, Attention deficit hyperactivity disorder, Increased resting energy expend... |
ORPHA:369873 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Obesity |
OMIM:618406 |
| Obesity And Hypopigmentation |
|
Polyphagia, Obesity |
OMIM:620195 |
| Bardet-Biedl Syndrome 22 |
|
Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
| Leptin Receptor Deficiency |
|
Short stature, Abnormal eating behavior, Aggressive behavior, Obesity, Delayed puberty, Polyphagia |
OMIM:614963 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
| Hypotonia-Cystinuria Syndrome |
|
Growth delay, Failure to thrive, Polyphagia |
ORPHA:163690 |
| 14Q11.2 Microduplication Syndrome |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Polyphagia, Inappropriate laughter, Obesity |
ORPHA:411515 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
| Leptin Deficiency Or Dysfunction |
|
Polyphagia, Obesity |
OMIM:614962 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Small for gestational age, Short stature |
ORPHA:85288 |
| Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol use, Agitation, Co... |
ORPHA:399 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Obesity, Short stature |
ORPHA:177910 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Abnormal repetitive mannerisms, Growth delay, Self-injurious behavi... |
ORPHA:228402 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
| Temple Syndrome |
|
Small for gestational age, Short stature, Postnatal growth retardation, Obesity, Polyphagia |
ORPHA:254516 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Hartnup Disorder |
|
Hyperactivity, Short stature, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Short stature, Impulsivity, Flexion contracture, Obesity, Skin-pick... |
OMIM:615547 |
| Coffin-Siris Syndrome 8 |
|
Hyperactivity, Inguinal hernia, Aggressive behavior, Self-injurious behavior, Failure to thrive |
OMIM:618362 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Failure to thrive, Abnormal repeti... |
OMIM:609425 |
| 6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Agitation, Polyphagia, Large for gestational age |
ORPHA:324575 |
| Morm Syndrome |
|
Truncal obesity, Hyperactivity, Aggressive behavior |
ORPHA:75858 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Agitation, Polyphagia, Large for gestational age |
ORPHA:276556 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia, Obesity |
OMIM:617885 |
| Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Polydipsia, Polyphagia, Obesity |
OMIM:615986 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Agitation, Polyphagia, Large for gestational age |
ORPHA:276575 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Agitation, Polyphagia, Large for gestational age |
ORPHA:276580 |
| Trisomy 18P |
|
Intrauterine growth retardation, Short stature, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
| Hypotonia-Cystinuria Syndrome |
|
Postnatal growth retardation, Failure to thrive, Polyphagia |
OMIM:606407 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Short stature, Aggressive behavior |
OMIM:615541 |
| 8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Inguinal hernia, Short stature, Impulsivity, Aggressive behavior, Frequent temper ... |
OMIM:620141 |
| Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Small for gestational age, Failure to thrive in infancy, Short stature, Birth leng... |
OMIM:614104 |
| Luscan-Lumish Syndrome |
|
Polyphagia, Obesity, Short stature, Aggressive behavior |
OMIM:616831 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
| Angelman Syndrome |
|
Hyperactivity, Aggressive behavior, Tongue thrusting, Obesity, Self-injurious behavior, Inappropr... |
ORPHA:72 |
| Man1B1-Cdg |
|
Truncal obesity, Polyphagia |
ORPHA:397941 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Short stature, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity |
ORPHA:3077 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia, Obesity |
OMIM:609734 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Intrauterine growth retardation, Polydipsia, Failure to thrive, Polyphagia |
ORPHA:525731 |
| Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia |
OMIM:612469 |
| Secondary Short Bowel Syndrome |
|
Growth delay, Failure to thrive, Polyphagia, Weight loss |
ORPHA:95427 |
| Insulinoma |
|
Polyphagia, Increased body weight |
ORPHA:97279 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Short stature, Aggressive behavior, Postnatal growth retardation, Self-injurious behavior, Inappr... |
OMIM:156200 |
| Obesity Due To Congenital Leptin Deficiency |
|
Polyphagia, Obesity |
ORPHA:66628 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Abnormal dental enamel morphology, Obesity, Delayed puberty, Polyphagia |
ORPHA:251004 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Short stature, Postnatal growth retardation, Decreased body weight, Intrauterine g... |
OMIM:608747 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Polyphagia, Obesity |
ORPHA:179494 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Short stature, Impulsivity, Flexion contracture, Increased body weight, Abdominal obesity, Abnorm... |
ORPHA:398069 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Failure to thrive, Small for gestational age, Short stature, Bulimia, Obesity, Self-injurious beh... |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Failure to thrive, Small for gestational age, Short stature, Bulimia, Obesity, Self-injurious beh... |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Failure to thrive, Small for gestational age, Short stature, Bulimia, Obesity, Self-injurious beh... |
ORPHA:177901 |
| 13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Intrauteri... |
ORPHA:412035 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small for gestational age, Short stature, Bulimia, Obesity, Self-injurious behavior, Abnormal tem... |
ORPHA:98754 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Recurren... |
OMIM:617600 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Obesity, Abdominal obesity, Skin-picking, Abnormal temper tantrums, Failure to thrive, Polyphagia |
ORPHA:398079 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Aggressive behavior, Postnatal growth retardation, Polyphagia, Self-mutilation |
ORPHA:251028 |
| Prader-Willi Syndrome |
|
Failure to thrive in infancy, Short stature, Obesity, Self-injurious behavior, Abdominal obesity,... |
OMIM:176270 |
| 7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Collectionism, Hyperactivity, Short stature, Congenital diaphragmatic hernia, Ag... |
ORPHA:96121 |
| Adnp Syndrome |
|
Inguinal hernia, Short stature, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, ... |
ORPHA:404448 |
| Craniopharyngioma |
|
Proportionate short stature, Postnatal growth retardation, Obesity, Growth delay, Delayed puberty... |
ORPHA:54595 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia |
OMIM:300942 |
| Prader-Willi Syndrome |
|
Short stature, Abdominal obesity, Attention deficit hyperactivity disorder, Failure to thrive, Po... |
ORPHA:739 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Short stature, Abnormal repetitive mannerisms, Bruxism, Obesity, Truncal obesity, ... |
OMIM:615873 |
| Weaver Syndrome |
|
Inguinal hernia, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Polyphagia |
OMIM:277590 |
| X-Linked Acrogigantism |
|
Increased body mass index, Polyphagia, Delayed puberty |
ORPHA:300373 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Reduce... |
OMIM:608594 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Short stature, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behavi... |
ORPHA:293987 |
| Gangliocytoma |
|
Polyphagia |
ORPHA:251937 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Reduce... |
OMIM:269700 |
| Pseudohypoparathyroidism Type 1C |
|
Enamel hypoplasia, Polyphagia, Obesity, Short stature |
ORPHA:79444 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Hyperactivity, Agitation, Weight loss |
ORPHA:424 |
| Pseudohypoparathyroidism Type 1A |
|
Enamel hypoplasia, Polyphagia, Obesity, Short stature |
ORPHA:79443 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Weight loss |
ORPHA:99819 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
| 1P36 Deletion Syndrome |
|
Short stature, Camptodactyly of finger, Abnormal repetitive mannerisms, Obesity, Self-injurious b... |
ORPHA:1606 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Aggressive behavior, Obesity, Dysphagia, Growth delay, Camptodactyly, Po... |
OMIM:607872 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Alström Syndrome |
|
Dorsocervical fat pad, Short stature, Obesity, Truncal obesity, Delayed menarche, Polyphagia |
ORPHA:64 |
