Early-Onset Schizophrenia |
|
Suicidal ideation, Lack of peer relationships, Decreased female libido, No social interaction, Un... |
ORPHA:96369 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness |
OMIM:618221 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Anxiety, Hyperactivity |
OMIM:617796 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age, Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Gray matter heterotopia, Aggressive behavior, Simplified gyral pattern, Lissenceph... |
OMIM:604317 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Impaired social interactions, No social interaction, Obesity, Aggressive behavior, Polyphagia |
ORPHA:329249 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Irritability, Inability to walk, Hyperactivity |
OMIM:616657 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Huntington Disease |
|
Suicidal ideation, Dystonia, Choking episodes, Disinhibition, Anxiety, Abnormal libido, Oral-phar... |
ORPHA:399 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Pick Disease Of Brain |
|
Disinhibition, Emotional blunting, Inappropriate laughter, Apathy, Irritability, Polyphagia, Dimi... |
OMIM:172700 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Hyperactivity, Obesity, Ataxia, Inappropriate laughter, Polyphagia, Broad-based gait |
ORPHA:411515 |
Frontotemporal Dementia |
|
Disinhibition, Inappropriate laughter, Apathy, Irritability, Inappropriate sexual behavior, Polyp... |
OMIM:600274 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Graves Disease, Susceptibility To, 1 |
|
Polyphagia, Irritability, Hyperactivity, Weight loss |
OMIM:275000 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Poor eye contact, Tremor |
OMIM:300983 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Shuffling gait, Abnormal aggressive, impulsive or violent behavior, Hyperactivity... |
ORPHA:3077 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Simplified gyral pattern, Broad-based gait, Tremor |
OMIM:619470 |
Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Obesity, Poor eye contact |
OMIM:613886 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased body weight |
OMIM:608747 |
Chromosome 3Q29 Deletion Syndrome |
|
Small for gestational age, Anxiety, Hyperactivity, Aggressive behavior, Gait ataxia, Failure to t... |
OMIM:609425 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Dystonia 12 |
|
Dystonia, Anxiety, Unsteady gait, Emotional lability, Dysphagia, Torticollis, Depression, Tremor |
OMIM:128235 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder |
ORPHA:369873 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Truncal obesity |
ORPHA:75858 |
Juvenile Huntington Disease |
|
Dystonia, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Irritability, Depres... |
ORPHA:248111 |
Microcephaly, Seizures, And Developmental Delay |
|
Simplified gyral pattern, Hyperactivity, Ataxia |
OMIM:613402 |
Leptin Deficiency Or Dysfunction |
|
Primary amenorrhea, Obesity, Polyphagia, Abnormal eating behavior, Hypogonadism |
OMIM:614962 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior, Anxiety, Hyperactivity, Aggressive behavior, Abnormal eating behavior, ... |
ORPHA:101039 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Failure to thrive, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... |
ORPHA:66624 |
Leptin Receptor Deficiency |
|
Obesity, Aggressive behavior, Abnormal eating behavior, Polyphagia, Hypergonadotropic hypogonadism |
OMIM:614963 |
Glycine Encephalopathy |
|
Irritability, Impulsivity, Hyperactivity, Aggressive behavior |
OMIM:605899 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior |
OMIM:239500 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia, Obesity, Self-mutilation, Aggressive behavior |
OMIM:616521 |
Chromosome 22Q13 Duplication Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder, Bipolar affective disorder |
OMIM:615538 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior |
ORPHA:100973 |
Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Polyphagia, Hypogonadism |
OMIM:617119 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Anxiety, Hyperactivity, Impulsivity |
OMIM:616977 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Hyperactivity, Inability to walk, Gait disturbance, Tremor |
OMIM:618090 |
2Q23.1 Microdeletion Syndrome |
|
Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity, Ataxia, Polyphagia |
ORPHA:228402 |
Dopa-Responsive Dystonia |
|
Dystonia, Generalized dystonia, Oculogyric crisis, Abnormal social behavior, Anxiety, Leg dystoni... |
ORPHA:255 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior, Anxiety, Obesity, Poor eye contact, Attention deficit hyperactivity dis... |
ORPHA:444002 |
Phenylketonuria |
|
Anxiety, Hyperactivity, Aggressive behavior, Irritability, Self-mutilation, Depression, Attention... |
OMIM:261600 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Small for gestational age |
ORPHA:85288 |
Macrosomia Adiposa Congenita |
|
Large for gestational age, Obesity, Polyphagia |
OMIM:248100 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Hyperactivity, Ataxia, Aggressive behavior, Tremor |
OMIM:612716 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Ck Syndrome |
|
Slender build, Hyperactivity, Aggressive behavior, Irritability, Pachygyria, Polymicrogyria |
ORPHA:251383 |
Angelman Syndrome |
|
Happy demeanor, Self-injurious behavior, Anxiety, Obesity, Hyperactivity, Inability to walk, Aggr... |
ORPHA:72 |
Xq25 Microduplication Syndrome |
|
Anxiety, Hyperactivity |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Anxiety, Hyperactivity |
OMIM:300979 |
Lennox-Gastaut Syndrome |
|
Falls, Hyperactivity, Personality disorder, Aggressive behavior |
ORPHA:2382 |
Ck Syndrome |
|
Slender build, Hyperactivity, Aggressive behavior, Irritability, Pachygyria, Polymicrogyria |
OMIM:300831 |
Luscan-Lumish Syndrome |
|
Irregular menstruation, Anxiety, Obesity, Aggressive behavior, Shyness, Polyphagia |
OMIM:616831 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Obesity, Inability to walk, Polyphagia, Impulsivity, Hypogonadism |
OMIM:615547 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia, Tremor |
OMIM:615924 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Decreased body weight, Aggressive behavior |
OMIM:618342 |
Landau-Kleffner Syndrome |
|
Anxiety, Hyperactivity, Aggressive behavior, Steppage gait, Emotional lability, Gait ataxia, Depr... |
ORPHA:98818 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity, Inability to walk, Tremor |
OMIM:618718 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Anxiety, Hyperactivity, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder |
OMIM:301013 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Hypogonadotropic hypogonadism, Obesity |
ORPHA:177910 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Obesity, Childhood-onset truncal obesity |
ORPHA:71529 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, Hyperactivity, Polymicrogyria, Depression, Impulsivity |
ORPHA:88616 |
6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity, Broad-based gait |
ORPHA:171829 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Hyperactivity, Inability to walk, Aggressive behavior, Gait ataxia, Dysphagia, Impulsivity |
ORPHA:500180 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Polyphagia, Failure to thrive, Obesity, Childhood-onset truncal obesity |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Polyphagia, Failure to thrive, Obesity, Childhood-onset truncal obesity |
ORPHA:71526 |
Pediatric-Onset Graves Disease |
|
Mood swings, Hyperactivity, Polydipsia, Failure to thrive, Irritability, Polyphagia, Tremor |
ORPHA:525731 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Obesity |
OMIM:618406 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Depression |
OMIM:619467 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Failure to thrive |
ORPHA:163690 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Obesity, Aggressive behavior |
OMIM:617752 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Happy demeanor, Hyperactivity, Unsteady gait, Failure to thrive, Broad-based gait |
OMIM:617865 |
Man1B1-Cdg |
|
Resting tremor, Periventricular heterotopia, Truncal obesity, Polyphagia, Broad-based gait |
ORPHA:397941 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mood swings, Hyperactivity, Aggressive behavior, Simplified gyral pattern, Gait ataxia, Abdominal... |
OMIM:300354 |
Hsd10 Disease |
|
Abnormal social behavior, Ataxia, Dysphagia, Gait disturbance, Tremor |
ORPHA:391417 |
Stiff Person Spectrum Disorder |
|
Anxiety, Emotional lability, Difficulty walking, Exaggerated startle response, Falls, Agoraphobia |
ORPHA:3198 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Primary amenorrhea, Obesity, Emotional lability, Polyphagia, Hypergonadotropic hypogonadism, Hypo... |
ORPHA:179494 |
Cln5 Disease |
|
Dysmetria, Anxiety, Hyperactivity, Inability to walk, Ataxia, Aggressive behavior, Unsteady gait,... |
ORPHA:228360 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Hyperactivity, Anxiety, Ataxia, Aggressive behavior |
OMIM:271980 |
Fragile X Syndrome |
|
Periventricular heterotopia, Self-biting, Hyperactivity, Poor eye contact |
OMIM:300624 |
Bardet-Biedl Syndrome 9 |
|
Irregular menstruation, Polydipsia, Obesity, Truncal obesity, Polyphagia |
OMIM:615986 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
Guanidinoacetate Methyltransferase Deficiency |
|
Dystonia, Self-injurious behavior, Hyperactivity, Athetosis, Ataxia, Aggressive behavior |
ORPHA:382 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Hyperactivity |
OMIM:274270 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Failure to thrive, Hyperactivity, Aggressive behavior |
OMIM:615286 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia, Obesity |
OMIM:609734 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Insulinoma |
|
Polyphagia, Anxiety, Increased body weight, Tremor |
ORPHA:97279 |
Myoclonic-Astatic Epilepsy |
|
Impaired social interactions, Lack of peer relationships, Hyperactivity, Ataxia, Unsteady gait, A... |
ORPHA:1942 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Happy demeanor, Small for gestational age, Failure to thrive in infancy, Hyperactivity, Ataxia, I... |
OMIM:614104 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Hyperactivity, Aggressive behavior |
OMIM:617773 |
Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, Unsteady gait, Progressive ... |
ORPHA:485350 |
Temple Syndrome |
|
Polyphagia, Obesity, Small for gestational age |
ORPHA:254516 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Self-mutilation, Aggressive behavior, Unsteady gait |
OMIM:615516 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Impaired social interactions, Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavio... |
ORPHA:449291 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Large for gestational age, Polyphagia, Small for gestational age |
ORPHA:324575 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Failure to thrive, Hyperactivity, Aggressive behavior |
ORPHA:369939 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Broad-based gait, Aggressive behavior |
ORPHA:457260 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Failure to thrive, Hypergonadotropic hypogonadism |
OMIM:606407 |
Adenylosuccinase Deficiency |
|
Happy demeanor, Opisthotonus, Hyperactivity, Inability to walk, Aggressive behavior, Inappropriat... |
OMIM:103050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Decreased body weight, Broad-based gait, Aggressive behavior |
OMIM:300958 |
Gand Syndrome |
|
Hyperactivity, Inappropriate laughter |
OMIM:615074 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
Pitt-Hopkins-Like Syndrome 1 |
|
Impaired social interactions, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:610042 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Happy demeanor, Hyperactivity, Obesity, Ataxia, Inappropriate laughter, Dysphagia, Gait imbalance... |
ORPHA:98794 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Low frustration tolerance, Hyperactivity, Obesity, Ataxia, Aggressive behavior, Poor eye contact,... |
ORPHA:163681 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Polyphagia |
ORPHA:276556 |
Prader-Willi Syndrome |
|
Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea, Failure to thrive in infancy, Sel... |
OMIM:176270 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Polyphagia, Self-injurious behavior, Ataxia, Aggressive behavior |
OMIM:156200 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Anxiety, Hyperactivity, Aggressive behavior |
OMIM:300558 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Anxiety, Low self esteem, Depression, Attention deficit hyperactivity d... |
ORPHA:64280 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Inability to walk, Hemidystonia, Emotional lability, Irritability, Attention defic... |
ORPHA:1929 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Polyphagia |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Polyphagia |
ORPHA:276580 |
Cebalid Syndrome |
|
Polyphagia, Polymicrogyria |
OMIM:618774 |
X-Linked Creatine Transporter Deficiency |
|
Dystonia, Hyperactivity, Athetosis, Ataxia, Self-mutilation, Cachexia |
ORPHA:52503 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea, Small for gestational age, Self-i... |
ORPHA:98754 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea, Small for gestational age, Self-i... |
ORPHA:98793 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior |
OMIM:615824 |
Infantile Neuroaxonal Dystrophy |
|
Dystonia, Choking episodes, Hyperactivity, Ataxia, Unsteady gait, Emotional lability, Gait distur... |
ORPHA:35069 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
48,Xxxy Syndrome |
|
Infertility, Abnormal social behavior, Azoospermia, Abnormal aggressive, impulsive or violent beh... |
ORPHA:96263 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea, Obesity, Failure to thrive, Abdom... |
ORPHA:398079 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea, Small for gestational age, Self-i... |
ORPHA:177904 |
Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea, Small for gestational age, Self-i... |
ORPHA:177901 |
7Q11.23 Microduplication Syndrome |
|
Impaired social interactions, Dysmetria, Self-injurious behavior, Anxiety, Obesity, Hyperactivity... |
ORPHA:96121 |
Obesity Due To Congenital Leptin Deficiency |
|
Primary amenorrhea, Obesity, Polyphagia, Hypergonadotropic hypogonadism, Hypoplasia of the ovary |
ORPHA:66628 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Truncal obesity |
OMIM:613192 |
X-Linked Adrenoleukodystrophy |
|
Disinhibition, Hyperactivity, Aggressive behavior, Impotence, Inappropriate sexual behavior, Gait... |
ORPHA:43 |
Potocki-Lupski Syndrome |
|
Small for gestational age, Hyperactivity, Oral-pharyngeal dysphagia, Poor eye contact, Failure to... |
OMIM:610883 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Apathy, Polyphagia, Hypersexuality, Disinhibition |
OMIM:607485 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dysmetria, Dystonia, Intention tremor, Hyperactivity, Emotional lability, Gait ataxia, Dysphagia,... |
OMIM:610217 |
Prader-Willi-Like Syndrome |
|
Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea, Small for gestational age, Self-i... |
ORPHA:398073 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Anxiety, Inappropriate behavior, Exaggerated startle response, Abnormal fear/anxiety-re... |
ORPHA:309246 |
Cri-Du-Chat Syndrome |
|
Small for gestational age, Anxiety, Hyperactivity, Conspicuously happy disposition, Aggressive be... |
OMIM:123450 |
Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Obesity, Aggressive behavior |
OMIM:600430 |
Optic Atrophy 11 |
|
Hyperactivity, Dysmetria, Ataxia |
OMIM:617302 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Irritability, Hyperactivity, Aggressive behavior |
ORPHA:391307 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Infertility, Primary amenorrhea, Failure to thrive, Abdominal obesity, Polyphagia, Hypogonadism, ... |
ORPHA:398069 |
47,Xyy Syndrome |
|
Impaired social interactions, Azoospermia, Hyperactivity, Oligospermia, Male infertility, Impulsi... |
ORPHA:8 |
Prader-Willi Syndrome |
|
Infertility, Primary amenorrhea, Perisylvian polymicrogyria, Failure to thrive, Abdominal obesity... |
ORPHA:739 |
Adnp Syndrome |
|
Impaired social interactions, Anxiety, Oral-pharyngeal dysphagia, Aggressive behavior, Truncal ob... |
ORPHA:404448 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity |
OMIM:300143 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Obesity |
ORPHA:397973 |
13Q12.3 Microdeletion Syndrome |
|
Failure to thrive, Obesity, Self-mutilation, Hyperactivity |
ORPHA:412035 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Self-biting, Hypogonadism, Hyperactivity, Aggressive behavior |
ORPHA:3306 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Aggressive behavior, Emotional lability, Self-mutilation, Polyphagia, Broad-based gait |
ORPHA:251028 |
Pseudohypoparathyroidism Type 1C |
|
Anxiety, Obesity, Laryngeal dystonia, Irritability, Polyphagia, Depression, Hypergonadotropic hyp... |
ORPHA:79444 |
Citrullinemia Type Ii |
|
Hyperactivity, Aggressive behavior, Irritability, Decreased body mass index, Delayed menarche, Ab... |
ORPHA:247585 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Limb dystonia, Gait ataxia, Tremor |
ORPHA:363400 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Hyperactivity, Truncal obesity, Failure to thrive, Hypogonadism, Atten... |
ORPHA:73272 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Anxiety, Hyperactivity, Obesity, Ataxia, Aggressive behavior |
OMIM:618430 |
16P12.1P12.3 Triplication Syndrome |
|
Nail-biting, Anxiety, Hyperactivity, Failure to thrive, Skin-picking, Attention deficit hyperacti... |
ORPHA:485405 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal social behavior |
ORPHA:530983 |
Smith-Magenis Syndrome |
|
Hyperactivity, Head-banging, Self-mutilation, Increased body weight |
OMIM:182290 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Self-biting, Hyperactivity |
OMIM:618314 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Impaired social interactions, Self-biting, Anxiety, Hyperactivity, Ataxia, Aggressive behavior, P... |
OMIM:300912 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Emotional lability, Irritability, Lim... |
OMIM:608643 |
Gomez-Lopez-Hernandez Syndrome |
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Self-injurious behavior, Hyperactivity, Ataxia, Bipolar affective disorder, Depression |
OMIM:601853 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Low frustration tolerance, Anxiety, Hyperactivity, Inability to walk, Ataxia, Aggressive behavior... |
ORPHA:168491 |
Secondary Short Bowel Syndrome |
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Polyphagia, Failure to thrive, Weight loss |
ORPHA:95427 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
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Failure to thrive, Hyperactivity |
OMIM:619239 |
X-Linked Intellectual Disability, Cabezas Type |
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Hyperactivity, Obesity, Aggressive behavior, Broad-based gait, Cachexia, Hypogonadism, Tremor |
ORPHA:85293 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Impaired social interactions, Low frustration tolerance, Hyperactivity, Aggressive behavior, Emot... |
OMIM:309520 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Dystonia, Abnormal social behavior, Emotional lability, Gait ataxia, Progressive gait ataxia, Tip... |
ORPHA:309256 |
Stiff-Person Syndrome |
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Opisthotonus, Anxiety, Exaggerated startle response, Depression, Agoraphobia |
OMIM:184850 |
Gangliocytoma |
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Polyphagia, Impotence, Decreased female libido, Amenorrhea |
ORPHA:251937 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Pseudohypoparathyroidism Type 1A |
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Anxiety, Obesity, Laryngeal dystonia, Irritability, Polyphagia, Depression, Hypergonadotropic hyp... |
ORPHA:79443 |
X-Linked Acrogigantism |
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Polyphagia, Hypogonadism, Ataxia, Increased body mass index |
ORPHA:300373 |
Angelman Syndrome |
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Paroxysmal bursts of laughter, Hyperactivity, Obesity, Limb tremor, Progressive gait ataxia, Broa... |
OMIM:105830 |
Tay-Sachs Disease |
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Dysmetria, Dystonia, Anxiety, Inability to walk, Gait disturbance, Laryngeal dystonia, Dysphagia,... |
ORPHA:845 |
Myopathy With Extrapyramidal Signs |
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Dystonia, Perisylvian polymicrogyria, Hyperactivity, Ataxia, Difficulty walking, Tremor |
OMIM:615673 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Dystonia, Anxiety, Ataxia, Exaggerated startle response, Broad-based gait |
ORPHA:438216 |
Mucopolysaccharidosis, Type Iiib |
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Hyperactivity, Aggressive behavior |
OMIM:252920 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
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Low frustration tolerance, Decreased body weight, Shuffling gait, Hyperactivity, Aggressive behav... |
OMIM:300534 |
Metachromatic Leukodystrophy, Juvenile Form |
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Dystonia, Abnormal social behavior, Intention tremor, Emotional lability, Progressive gait ataxia |
ORPHA:309263 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity, Hand tremor, Weight loss, Small for gestational age |
ORPHA:424 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
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Hyperactivity, Low frustration tolerance, Self-mutilation, Inappropriate laughter |
ORPHA:363686 |
Chromosome 15Q25 Deletion Syndrome |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
White-Sutton Syndrome |
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Self-injurious behavior, Anxiety, Obesity, Hyperactivity, Aggressive behavior, Irritability, Fail... |
OMIM:616364 |
Rauch-Steindl Syndrome |
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Anxiety, Failure to thrive, Hyperactivity, Aggressive behavior |
OMIM:619695 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
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Gait ataxia, Hyperactivity, Low frustration tolerance, Self-mutilation |
OMIM:300486 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Polyphagia, Obesity |
ORPHA:251004 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Impaired social interactions, Self-injurious behavior, Polydipsia, Obesity, Aggressive behavior, ... |
ORPHA:293987 |
Metachromatic Leukodystrophy, Adult Form |
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Dystonia, Abnormal social behavior, Intention tremor, Emotional lability, Progressive gait ataxia... |
ORPHA:309271 |
Glass Syndrome |
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Happy demeanor, Broad-based gait, Hyperactivity, Aggressive behavior |
OMIM:612313 |
Chromosome 10Q26 Deletion Syndrome |
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Small for gestational age, Hyperactivity, Broad-based gait, Aggressive behavior |
OMIM:609625 |
Choreoacanthocytosis |
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Aggressive behavior, Apathy, Dysphagia, Hair-pulling, Depression, Socially inappropriate behavior... |
ORPHA:2388 |
X-Linked Cerebral Adrenoleukodystrophy |
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Dysmetria, Hyperactivity, Inability to walk, Ataxia, Male hypogonadism, Dysphagia, Gait disturban... |
ORPHA:139396 |
Hyperthyroidism, Nonautoimmune |
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Hyperactivity, Small for gestational age |
OMIM:609152 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Hand tremor, Weight loss |
ORPHA:99819 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Ataxia, Exaggerated startle response |
OMIM:618598 |
Tay-Sachs Disease |
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Apathy, Exaggerated startle response |
OMIM:272800 |
Developmental And Epileptic Encephalopathy 68 |
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Failure to thrive, Exaggerated startle response |
OMIM:618201 |
Niemann-Pick Disease Type C |
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Low frustration tolerance, Dystonia, Disinhibition, Axial dystonia, Intention tremor, Abnormal so... |
ORPHA:646 |
Gm2-Gangliosidosis, Ab Variant |
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Apathy, Dystonia, Exaggerated startle response |
OMIM:272750 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Emotional lability, Hyperactivity, Self-mutilation |
OMIM:256800 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Abnormal cortical gyration, Dysmetria, Abnormal social behavior, Intention tremor, Ataxia, Aggres... |
ORPHA:314647 |
Chromosome Xq26.3 Duplication Syndrome |
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Polyphagia |
OMIM:300942 |
Brain-Lung-Thyroid Syndrome |
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Dystonia, Intention tremor, Hyperactivity, Ataxia, Failure to thrive, Abnormal eating behavior, F... |
ORPHA:209905 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Inability to walk, Exaggerated startle response |
OMIM:609541 |
Asparagine Synthetase Deficiency |
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Simplified gyral pattern, Failure to thrive, Exaggerated startle response |
OMIM:615574 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Abnormal social behavior, Ataxia, Disinhibition |
ORPHA:1020 |
Craniopharyngioma |
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Polyphagia, Hypogonadotropic hypogonadism, Obesity, Hypogonadism |
ORPHA:54595 |
Mucopolysaccharidosis, Type Iiic |
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Hyperactivity, Dysphagia |
OMIM:252930 |
Hyperlysinemia |
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Dysmetria, Opisthotonus, Hyperactivity, Failure to thrive, Dysphagia, Tip-toe gait, Tremor |
ORPHA:2203 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Difficulty walking, Exaggerated startle response |
ORPHA:320406 |
Prader-Willi Syndrome Due To Translocation |
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Impaired social interactions, Happy demeanor, Hypogonadotropic hypogonadism, Abnormal social beha... |
ORPHA:177907 |
Wiedemann-Steiner Syndrome |
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Low frustration tolerance, Anxiety, Hyperactivity, Aggressive behavior, Failure to thrive, Dysphagia |
ORPHA:319182 |
Koolen-De Vries Syndrome |
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Small for gestational age, Anxiety, Hyperactivity, Conspicuously happy disposition, Gray matter h... |
OMIM:610443 |
1P36 Deletion Syndrome |
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Self-injurious behavior, Obesity, Failure to thrive, Dysphagia, Gait disturbance, Polyphagia, Hyp... |
ORPHA:1606 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Dystonia, Blepharospasm, Hyperactivity, Ataxia, Akinesia, Dysphagia, Gait disturbance, Depression... |
OMIM:234200 |
Argininemia |
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Irritability, Spastic gait, Hyperactivity |
OMIM:207800 |
Plaa-Associated Neurodevelopmental Disorder |
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Abnormal cortical gyration, Impaired oropharyngeal swallow response, Dystonia, Failure to thrive,... |
ORPHA:521426 |
Fg Syndrome Type 1 |
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Abnormal social behavior, Attention deficit hyperactivity disorder, Broad-based gait, Slender build |
ORPHA:93932 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Violent behavior, Dystonia, Aggressive behavior, Depression, Impaired social interactions, Isomet... |
OMIM:619475 |
Sandhoff Disease |
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Impotence, Ataxia, Exaggerated startle response |
OMIM:268800 |
Early Infantile Epileptic Encephalopathy |
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Dystonia, Self-injurious behavior, Hyperactivity, Failure to thrive, Pachygyria, Episodic ataxia,... |
ORPHA:1934 |
Mend Syndrome |
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Failure to thrive, Hyperactivity, Aggressive behavior, Abnormal social behavior |
ORPHA:401973 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Tuberous Sclerosis Complex |
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Abnormal social behavior, Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, D... |
ORPHA:805 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Abnormal cortical gyration, Failure to thrive, Dysphagia, Exaggerated startle response |
OMIM:617527 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Impaired social interactions, Obesity, Aggressive behavior, Self-mutilation, Dysphagia, Pachygyri... |
OMIM:607872 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hair-pulling, Hyperactivity, Dysphagia, Irritability |
ORPHA:447997 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Agyria, Lissencephaly, Pachygyria, Exaggerated startle response, Type II lissencephaly, Polymicro... |
OMIM:253800 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Decreased fertility in females, Polyphagia, Decreased fertility |
OMIM:269700 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Glycine Encephalopathy With Normal Serum Glycine |
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Dysphagia, Exaggerated startle response |
OMIM:617301 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Abnormal aggressive, impulsive or violent behavior, Irritability, Inability to walk, Abnormal soc... |
ORPHA:1675 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Impaired social interactions, Self-injurious behavior, Hyperactivity, Obesity, Panic attack, Aggr... |
ORPHA:353281 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Decreased fertility in females, Polyphagia |
OMIM:608594 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Dysmetria, Hand tremor, Hyperactivity, Ataxia, Aggressive behavior, Unsteady gait, Gait ataxia, B... |
OMIM:614756 |
Legius Syndrome |
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Hyperactivity, Dystonia, Attention deficit hyperactivity disorder |
ORPHA:137605 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Small for gestational age, Slender build, Abnormal social behavior, Anxiety, Inappropriate laught... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Small for gestational age, Slender build, Abnormal social behavior, Anxiety, Inappropriate laught... |
ORPHA:363958 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Nail-biting, Hyperactivity, Self-mutilation, Abnormal emotion/affect behavior, Dysphagia, Impulsi... |
ORPHA:642 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response |
ORPHA:79255 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Attention deficit hyperactivity disorder, Dysphagia, Chordee, Exaggerated startle response |
OMIM:619522 |
Williams Syndrome |
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Hypogonadotropic hypogonadism, Dysmetria, Failure to thrive in infancy, Abnormal social behavior,... |
ORPHA:904 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Dystonia, Inability to walk, Dysphagia, Exaggerated startle response, Broad-based gait |
ORPHA:438213 |
Alström Syndrome |
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Irregular menstruation, Obesity, Ataxia, Decreased fertility in males, Truncal obesity, Oligosper... |
ORPHA:64 |