22q11.2 distal deletion syndrome |
|
Short stature, Small for gestational age |
DECIPHER:72 |
Smith-Magenis syndrome |
|
Motor stereotypy, Short stature, Hyperactivity, Self-mutilation |
DECIPHER:8 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity, Short stature |
OMIM:300271 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age, Aggressive behavior, Hyperactivity, Spasticity |
ORPHA:356996 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Decreased body weight, Hyperactivity, Short stature |
OMIM:616311 |
N-Acetylaspartate Deficiency |
|
Motor stereotypy, Decreased body weight, Self-mutilation, Short stature, Truncal ataxia, Unsteady... |
OMIM:614063 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Self-injurious behavior, Short stature, Pica, Spastic diplegia, Choreoathetosis... |
OMIM:617270 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:617787 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Shyness, Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618221 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity, Short stature |
DECIPHER:19 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Poor coordination, Short stat... |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Clumsiness, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Short stature, Ag... |
ORPHA:100973 |
Foxg1 Syndrome |
|
Motor stereotypy, Inability to walk, Poor eye contact, Decreased body weight, Cognitive impairmen... |
ORPHA:561854 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity, Ankle clonus, Babinski sign, Spasticity, Spastic tetraplegia, I... |
OMIM:616657 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Falls, Abnormal neuron morphology, Mo... |
ORPHA:412066 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Impaired social interactions, Inability to walk |
OMIM:606053 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Failure to thrive, Difficulty walking, Spasticity, Irritability |
OMIM:617393 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Aggressive behavior, Hyperactivity, Spasticity |
OMIM:615493 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Self-injurious behavior, Anxiety, Speech apraxia, Attention deficit hyperactivi... |
OMIM:613670 |
Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Happy demeanor, Ataxia, Inability to walk, Poor eye contact, Broad-based gait, ... |
OMIM:617695 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age, Anxiety, Gait atax... |
OMIM:609425 |
Insulin-Like Growth Factor I Deficiency |
|
Intrauterine growth retardation, Decreased body weight, Hyperactivity, Short stature |
OMIM:608747 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Inability to walk, Self-injurious behavior, Poor eye contact, Involuntary movem... |
OMIM:617820 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608631 |
Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Apathy, Frontotemporal dementia, Abulia, Mental deterioration, Memory impairmen... |
ORPHA:275864 |
Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy, Abnormal nonverbal communicative behavior, Lack of peer relationships |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy, Abnormal nonverbal communicative behavior, Lack of peer relationships |
OMIM:300425 |
Autism |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608636 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Hyperactivity, Tremor, Aggressive behavior, Spastic tetraparesis |
OMIM:619470 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia, Short stature |
OMIM:617862 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, Hyperactivity, Aggressive behavior |
OMIM:239500 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Hyperactivity, Myoclonus, ... |
ORPHA:248111 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Difficulty walking, Attention defic... |
OMIM:619191 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hyperactivity, Mental deterioration, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tr... |
OMIM:615924 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hypertonia, Failure to thrive, Hyperactivity, Growth delay, Agenesis of corpus callosum, Tetraplegia |
OMIM:274270 |
Pick Disease Of Brain |
|
Motor stereotypy, Apathy, Diminished motivation, Emotional blunting, Polyphagia, Frontotemporal d... |
OMIM:172700 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Short stature, Babinski sign, Spastic dysarthria, Difficulty walking, Progressi... |
ORPHA:280763 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Motor stereotypy, Happy demeanor, Ataxia, Hyperactivity, Small for gestational age, Short stature... |
OMIM:614104 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, Poor coordination, Chorea, Falls, Aggressive behavior, Paroxysmal dyski... |
OMIM:619150 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Short st... |
ORPHA:3077 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Self-injurious behavior, Spastic tetraplegia, Intrauterine growth r... |
OMIM:615282 |
Atypical Rett Syndrome |
|
Loss of ambulation, Inability to walk, Poor eye contact, Hand apraxia, Pill-rolling tremor, Panic... |
ORPHA:3095 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Motor stereotypy, Hyperactivity, Aggressive behavior, Short stature |
OMIM:615541 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Apathy, Myoclonus, Babinski sign, Rigidity, Memory impairment, Gait disturbance... |
OMIM:600795 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Poor eye contact, Hyperactivity, Tremor, Aggressive behavior, Spasticity |
OMIM:300983 |
Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Abnormal social behavior, Myoclonus, Rigidity, Gait disturbance, Tre... |
ORPHA:391417 |
Childhood Disintegrative Disorder |
|
Motor stereotypy, Social and occupational deterioration, Progressive language deterioration, Ment... |
ORPHA:168782 |
Obesity, Hyperphagia, And Developmental Delay |
|
Motor stereotypy, Obesity, Polyphagia, Poor eye contact |
OMIM:613886 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Short stature, Hyperactivity, Small for gestational age |
ORPHA:85288 |
Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Spastic diplegia, Inability to walk |
OMIM:617830 |
Glycine Encephalopathy |
|
Hyperactivity, Myoclonus, Aggressive behavior, Agenesis of corpus callosum, Irritability |
OMIM:605899 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hypertonia, Hyperactivity, Hemiparesis, Aggressive behavior, Spastic tetraparesis |
OMIM:604317 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Apathy, Babinski sign, Spasticity, Emotional lability, Dysphagia, Frontotempora... |
OMIM:612069 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Failure to thrive, Spasticity, Irritability |
ORPHA:500545 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Motor stereotypy, Hypertonia, Hyperactivity, Small for gestational age, Short stature, Cerebral p... |
ORPHA:352490 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Inability to walk, Self-injurious behavior, Hyperkinetic movements, Cho... |
OMIM:618218 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Par... |
OMIM:619725 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, Inability to walk, Self-injurious behavior, Hyperactivity, Tremor, Spasticity |
OMIM:618718 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Failure to thrive, Hyperactivity, Short stature, Aggressive behavior, Spasticity, Agenesis of cor... |
OMIM:615286 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Motor stereotypy, Slender build, Recurrent hand flapping, Hyperactivity, Myoclonus, Cerebral pals... |
OMIM:617600 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Reduced use of typical gestures, Clumsiness, Recurrent hand flapping, Pica, Anxiety, Pronoun reve... |
OMIM:615032 |
Pitt-Hopkins-Like Syndrome 1 |
|
Motor stereotypy, Ataxia, Hyperactivity, Progressive language deterioration, Aggressive behavior,... |
OMIM:610042 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Progressive langu... |
ORPHA:79264 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Growth delay, Ataxia, Hyperactivity, Tremor, Choreoathetosis, Spasticity, Aggressive behavior, Oc... |
OMIM:612716 |
Coffin-Siris Syndrome 8 |
|
Failure to thrive, Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:618362 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Impaired social interactions, Hyperkinetic movements, Stereotypical hand... |
ORPHA:397933 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Motor stereotypy, Decreased body weight, Hyperactivity, Short stature, Tremor, Attention deficit ... |
OMIM:618342 |
Lamb-Shaffer Syndrome |
|
Motor stereotypy, Ataxia, Hyperactivity, Mild postnatal growth retardation, Abnormal social behav... |
ORPHA:530983 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Hyperactivity, Dysmetria, Rigidity, Gait disturbance, Tremor |
OMIM:618090 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Truncal obesity |
ORPHA:75858 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea |
OMIM:618760 |
Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
Xq28 (MECP2) duplication |
|
Motor stereotypy, Failure to thrive, Inability to walk, Anxiety, Progressive spasticity, Gait ata... |
DECIPHER:45 |
Potocki-Lupski Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Poor eye contact, Small for gestational age, ... |
OMIM:610883 |
2Q23.1 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia, Self-injurious behavior, Hyperactivity, Short stature, Polyphagia, Grow... |
ORPHA:228402 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Mental deterioration, Myoclonus, Falls, Aggressive behavior |
ORPHA:2382 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Hyperactivity, Spasticity, Chorea |
ORPHA:88616 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Self-injurious behavior, Hyperactivity, Chorea, Progressive extrapyramidal movement disor... |
ORPHA:382 |
Cdkl5-Deficiency Disorder |
|
Poor eye contact, Stereotypical hand wringing, Gait disturbance, Difficulty walking, Growth delay |
ORPHA:505652 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Motor stereotypy, Anxiety, Attention deficit hyperactivity disorder, Spastic ataxia |
OMIM:618906 |
Landau-Kleffner Syndrome |
|
Social and occupational deterioration, Hyperactivity, Anxiety, Memory impairment, Frequent falls,... |
ORPHA:98818 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Poor eye contact, Hyperactivity, Progressive language deterioration, Self-mutilation, Men... |
ORPHA:163681 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Failure to thrive, Hand-leading gestures, Recurrent hand flapping, Attention deficit hyperactivit... |
OMIM:617788 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Poor eye contact, Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Ob... |
ORPHA:444002 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Motor stereotypy, Proportionate short stature, Self-injurious behavior, Attention deficit hyperac... |
OMIM:617044 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Hypertonia, Happy demeanor, Failure to thrive, Hyperactivity, Tics, Unsteady gait |
OMIM:617865 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Motor stereotypy, Failure to thrive, Ataxia, Recurrent hand flapping, Poor eye contact, Stereotyp... |
OMIM:300912 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior |
OMIM:619970 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor |
ORPHA:98807 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Ataxia, Cortical myoclonus, Inability to walk, Hyperactivity, Mental deteriorat... |
ORPHA:168491 |
Cln5 Disease |
|
Ataxia, Poor gross motor coordination, Clumsiness, Inability to walk, Dysmetria, Hyperactivity, M... |
ORPHA:228360 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Gait ataxia, Recurrent hand flapping, Irritability, Poor coordination |
OMIM:619717 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Self-mutilation, Short stature, Anxiety, Hyperkinetic movements, Gait disturban... |
ORPHA:457240 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Happy demeanor, Ataxia, Hyperactivity, Polyphagia, Obesity |
ORPHA:411515 |
Xq25 Microduplication Syndrome |
|
Anxiety, Hyperactivity, Short stature |
ORPHA:521258 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Motor stereotypy, Hypertonia, Ataxia, Conspicuously happy disposition, Recurrent hand flapping, S... |
OMIM:300986 |
Hereditary Geniospasm |
|
Chin myoclonus, Abnormal social behavior |
ORPHA:53372 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Motor stereotypy, Self-injurious behavior, Recurrent hand flapping, Poor eye contact, Hyperactivi... |
ORPHA:449291 |
Christianson Syndrome |
|
Conspicuously happy disposition, Motor stereotypy, Cachexia, Truncal ataxia, Gait ataxia, Dysphagia |
ORPHA:85278 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea... |
OMIM:618917 |
Autism, Susceptibility To, X-Linked 2 |
|
Motor stereotypy, Abnormal nonverbal communicative behavior, Lack of peer relationships |
OMIM:300495 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior, Unsteady gait |
OMIM:615516 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Bradykinesia, Hyperactivity, Memory impairment, Self-biting, Nail-biting... |
OMIM:619827 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Hyperactivity, Limb hypertonia, Abnormal pyramidal sign, Chorea, Gait ataxia, ... |
ORPHA:500180 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Recurrent hand flapping, Poor coordination, Abnormal eating behavior, Gait disturbance, T... |
ORPHA:544254 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Failure to thrive, Hyperactivity, Abnormal pyramidal sign, Aggressive behavior, Intrauterine grow... |
ORPHA:369939 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Motor stereotypy, Hypertonia, Broad-based gait, Failure to thrive, Short stature, Gait disturbanc... |
OMIM:300352 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Happy demeanor, Ataxia, Broad-based gait, Recurrent hand flapping, Hyperactivity,... |
ORPHA:98794 |
Dopa-Responsive Dystonia |
|
Agoraphobia, Inability to walk, Poor coordination, Abnormal social behavior, Abnormality of extra... |
ORPHA:255 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Abnormal social behavior, Anxiety, Abnormal eating behavior, Aggressive behavior |
ORPHA:101039 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity, Poor fine motor coordination |
OMIM:617182 |
Cri-Du-Chat Syndrome |
|
Motor stereotypy, Hypertonia, Conspicuously happy disposition, Overfriendliness, Hyperactivity, S... |
OMIM:123450 |
Fragile X Syndrome |
|
Hyperactivity, Recurrent hand flapping, Poor eye contact, Self-biting |
OMIM:300624 |
Bilateral Generalized Polymicrogyria |
|
Motor stereotypy, Growth delay, Self-injurious behavior, Short stature, Lateral ventricle dilatat... |
ORPHA:208447 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Hyperactivity, Short stature, Aggressive behavior, Irritability |
ORPHA:391307 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Recurrent hand flapping, Truncal obesity |
OMIM:613192 |
Coffin-Siris Syndrome 6 |
|
Motor stereotypy, Short stature, Anxiety, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Motor stereotypy, Ataxia, Inability to walk, Poor eye contact, Decreased body weight, Anxiety, Ri... |
OMIM:300260 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity |
OMIM:617113 |
Smith-Magenis Syndrome |
|
Motor stereotypy, Head-banging, Hyperactivity, Self-mutilation, Short stature, Increased body weight |
OMIM:182290 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Hyperactivity, Progressive psychomotor deterioration, Cognitive impairment, Myoclonus, Ab... |
ORPHA:363400 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Motor stereotypy, Failure to thrive, Ataxia, Cognitive impairment, Anxiety, Paraplegia, Emotional... |
ORPHA:927 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Hyperkinetic movements, Chorea, Choreoath... |
OMIM:619317 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Motor stereotypy, Cognitive impairment, Anxiety, Suicidal ideation, Involuntary movements, Attent... |
ORPHA:98784 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Motor stereotypy, Self-injurious behavior |
OMIM:619690 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Motor stereotypy, Happy demeanor, Ataxia, Inability to walk, Recurrent hand flapping, Opisthotonu... |
OMIM:619580 |
Radio-Tartaglia Syndrome |
|
Motor stereotypy, Gait imbalance, Ataxia, Poor eye contact, Tremor, Attention deficit hyperactivi... |
OMIM:619312 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Motor stereotypy, Happy demeanor, Poor eye contact, Difficulty walking, Gait ataxia, Spasticity, ... |
OMIM:617807 |
Chromosome Xq25 Duplication Syndrome |
|
Anxiety, Hyperactivity, Short stature |
OMIM:300979 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Motor stereotypy, Hyperactivity, Self-biting, Aggressive behavior, Growth delay |
ORPHA:3306 |
Optic Atrophy 11 |
|
Ataxia, Hyperactivity, Dysmetria, Short stature, Hyperkinetic movements |
OMIM:617302 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Motor stereotypy, Growth delay, Dysmetria, Babinski sign, Truncal ataxia, Attention deficit hyper... |
OMIM:619121 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Failure to thrive, Anxiety, Oromotor apraxia, Attention deficit hyperactivity disorder, Spasticit... |
ORPHA:391372 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Motor stereotypy, Hyperactivity, Small for gestational age, Pica, Anxiety, Overweight, Irritability |
OMIM:617796 |
Shukla-Vernon Syndrome |
|
Motor stereotypy, Broad-based gait, Attention deficit hyperactivity disorder |
OMIM:301029 |
Rauch-Steindl Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Short stature, Anxiety, Aggressive behavior, ... |
OMIM:619695 |
Graves Disease, Susceptibility To, 1 |
|
Polyphagia, Weight loss, Hyperactivity, Irritability |
OMIM:275000 |
Rasmussen Subacute Encephalitis |
|
Inability to walk, Hyperactivity, Cognitive impairment, Hemiparesis, Memory impairment, Involunta... |
ORPHA:1929 |
Ck Syndrome |
|
Slender build, Hyperactivity, Aggressive behavior, Irritability |
ORPHA:251383 |
Angelman Syndrome Due To A Point Mutation |
|
Gait imbalance, Happy demeanor, Ataxia, Broad-based gait, Recurrent hand flapping, Tongue thrusti... |
ORPHA:411511 |
Alazami Syndrome |
|
Motor stereotypy, Self-mutilation, Anxiety, Stereotypical hand wringing, Abnormal eating behavior... |
ORPHA:319671 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Ataxia, Self-injurious behavior, Hyperactivity, Anxiety, Hyperkinetic movements, Aggressive behavior |
OMIM:271980 |
Phenylketonuria |
|
Hyperactivity, Self-mutilation, Anxiety, Attention deficit hyperactivity disorder, Aggressive beh... |
OMIM:261600 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Hypertonia, Hyperactivity, Small for gestational age, Short stature, Cerebral palsy, Intrauterine... |
OMIM:615834 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia |
OMIM:619092 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Attention deficit hyperactivity disorder, Recurrent hand flapping |
OMIM:620021 |
4Q21 Microdeletion Syndrome |
|
Motor stereotypy, Self-injurious behavior, Tremor, Growth delay, Intrauterine growth retardation,... |
ORPHA:238750 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Motor stereotypy, Self-injurious behavior, Anxiety, Attention deficit hyperactivity disorder, Agg... |
ORPHA:313892 |
Angelman Syndrome |
|
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Recurrent hand flapping, Self-injuri... |
ORPHA:72 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Self-injurious behavior, Short stature, Chorea, Lateral ventricle dilatation, S... |
ORPHA:178469 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Hypertonia, Ataxia, Semantic dementia, Abnormal social behavior, Myoclonus, Parkinsonism, Memory ... |
ORPHA:1020 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Motor stereotypy, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618825 |
48,Xxyy Syndrome |
|
Motor stereotypy, Ataxia, Anxiety, Tremor, Attention deficit hyperactivity disorder, Obesity |
ORPHA:10 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Progressive cerebellar ataxia, Self-injurious behavior, Hyperactivity, Myoclonus, Anxiety, Chorea... |
ORPHA:485350 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Motor tics |
OMIM:619927 |
Ck Syndrome |
|
Slender build, Hyperactivity, Aggressive behavior, Irritability |
OMIM:300831 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Severe intrauterine growth retardation, Hyperactivity, Small for gestational a... |
ORPHA:73272 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Myoclonus, Inability to walk, Poor eye contact |
ORPHA:411986 |
Snijders Blok-Campeau Syndrome |
|
Motor stereotypy, Broad-based gait, Speech apraxia, Unsteady gait |
OMIM:618205 |
Rett Syndrome |
|
Short stature, Gait apraxia, Cachexia, Stereotypical hand wringing, Truncal ataxia, Motor deterio... |
OMIM:312750 |
Adenylosuccinase Deficiency |
|
Happy demeanor, Inability to walk, Poor eye contact, Hyperactivity, Opisthotonus, Self-mutilation... |
OMIM:103050 |
Galloway-Mowat Syndrome 6 |
|
Motor stereotypy, Decreased body weight, Short stature, Growth delay, Intrauterine growth retarda... |
OMIM:618347 |
X-Linked Adrenoleukodystrophy |
|
Paraparesis, Clumsiness, Hyperactivity, Cognitive impairment, Hemiparesis, Gait disturbance, Prog... |
ORPHA:43 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Clumsiness, Hyperactivity, Short stature, Anxiety, Aggressive behavior |
OMIM:300558 |
Distal Xq28 Microduplication Syndrome |
|
Poor eye contact, Stereotypical body rocking, Tip-toe gait, Short stature, Anxiety, Self-biting, ... |
ORPHA:293939 |
Ritscher-Schinzel Syndrome 4 |
|
Motor stereotypy, Ataxia, Short stature, Chorea, Athetosis, Aggressive behavior, Dysphagia, Agene... |
OMIM:619435 |
X-Linked Creatine Transporter Deficiency |
|
Hypertonia, Ataxia, Hyperactivity, Self-mutilation, Short stature, Cachexia, Chorea, Athetosis |
ORPHA:52503 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Obesity |
OMIM:301013 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Hoffmann sign, Ankle clonus, Mental deterior... |
ORPHA:139396 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Broad-based gait, Decreased body weight, Hyperactivity, Aggressive behavior, Spasticity |
OMIM:300958 |
Myoclonic-Astatic Epilepsy |
|
Ataxia, Hyperactivity, Abnormal emotion/affect behavior, Abnormal pyramidal sign, Lack of peer re... |
ORPHA:1942 |
Wiedemann-Steiner Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Short stature, Anxiety, Rhizomelia, Psychomot... |
ORPHA:319182 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Self-injurious behavior, Anxiety, Spasticity, Aggressive behavior |
OMIM:619467 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Motor stereotypy, Inability to walk, Postnatal growth retardation, Spastic diplegia,... |
ORPHA:300570 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Hyperactivity, Mental deterioration, Abnormal pyramidal sign, Progressive spasticity, Gai... |
ORPHA:35069 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Motor stereotypy, Ataxia, Poor eye contact, No social interaction, Head tremor, Growth delay |
OMIM:619428 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Motor stereotypy, Failure to thrive, Speech apraxia, Choreoathetosis, Attention deficit hyperacti... |
ORPHA:261197 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Happy demeanor, Recurrent hand flapping, Tremor, Speech apraxia, Attention deficit h... |
OMIM:619680 |
Cystinosis |
|
Motor stereotypy, Failure to thrive, Polydipsia, Short stature, Abnormal pyramidal sign, Gait dis... |
ORPHA:213 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abdominal obesity, Hyperactivity, Short stature, Tremor, Gait ataxia, Aggressive behavior, Delaye... |
OMIM:300354 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hypertonia, Bradykinesia, Hyperactivity, Dysmetria, Intention tremor, Mental deterioration, Dysdi... |
OMIM:610217 |
White-Sutton Syndrome |
|
Motor stereotypy, Overfriendliness, Failure to thrive, Self-injurious behavior, Hyperactivity, Sh... |
OMIM:616364 |
Choreoacanthocytosis |
|
Mental deterioration, Chorea, Falls, Emotional lability, Weight loss, Slurred speech, Hypertonia,... |
ORPHA:2388 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Short stature, Small for gestational age, Myoclonus, Stereotypical hand wringing |
ORPHA:289266 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Broad-based gait, Aggressive behavior, Hyperactivity, Spasticity |
ORPHA:457260 |
Smith-Magenis Syndrome |
|
Motor stereotypy, Self-injurious behavior, Short stature, Anxiety, Gait disturbance, Attention de... |
ORPHA:819 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Motor stereotypy, Intrauterine growth retardation, Hyperactivity |
OMIM:617751 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
Brain-Lung-Thyroid Syndrome |
|
Failure to thrive, Ataxia, Clumsiness, Hyperactivity, Growth delay, Short stature, Intention trem... |
ORPHA:209905 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Short... |
ORPHA:309246 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Apathy, Progressive language deterioration, Parkinsonism, Memory impairment, Polyphagia, Repetiti... |
OMIM:607485 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Motor stereotypy, Anxiety, Self-injurious behavior |
OMIM:615637 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Anxiety, Limb myoclonus, Attention deficit hyperactivity disorder, Punding |
ORPHA:64280 |
Rett Syndrome |
|
Motor stereotypy, Failure to thrive, Inability to walk, Bradykinesia, Stereotypical hand wringing... |
ORPHA:778 |
22Q11.2 Duplication Syndrome |
|
Motor stereotypy, Growth delay, Anxiety, Attention deficit hyperactivity disorder |
ORPHA:1727 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Motor stereotypy, Overfriendliness, Attention deficit hyperactivity disorder, Low frustration tol... |
OMIM:619293 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Blepharospasm, Bradykinesia, Hyperactivity, Mental deterioration, Babinski sign... |
OMIM:234200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Motor stereotypy, Hyperactivity, Self-mutilation, Gait ataxia, Spasticity, Low frustration tolerance |
OMIM:300486 |
Helsmoortel-Van Der Aa Syndrome |
|
Motor stereotypy, Obesity, Hyperactivity, Short stature |
OMIM:615873 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Motor stereotypy, Hypertonia, Hyperactivity, Irritability, Myoclonic spasms, Clonus, Dysphagia, L... |
ORPHA:447997 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Motor stereotypy, Head-banging, Dysplastic corpus callosum, Partial agenesis of the corpus callos... |
OMIM:619103 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Self-injurious behavior, Stereotypical body rocking, Short stature, Tongue thrusti... |
ORPHA:261323 |
Coffin-Siris Syndrome 7 |
|
Motor stereotypy, Hyperactivity, Short stature |
OMIM:618027 |
Metachromatic Leukodystrophy, Adult Form |
|
Clumsiness, Progressive psychomotor deterioration, Abnormal social behavior, Intention tremor, De... |
ORPHA:309271 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Motor stereotypy, Self-injurious behavior, Tremor, Attention deficit hyperactivity disorder, Aggr... |
OMIM:617061 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Clumsiness, Hyperactivity, Chorea, Frequent falls, Tremor, Difficulty walking, Choreoathe... |
OMIM:615673 |
Rett Syndrome, Congenital Variant |
|
Motor stereotypy, Poor eye contact, Tongue thrusting, Chorea, Athetosis, Spasticity, Apraxia, Imp... |
OMIM:613454 |
Kohlschutter-Tonz Syndrome-Like |
|
Motor stereotypy, Intrauterine growth retardation, Ataxia, Inability to walk, Decreased body weig... |
OMIM:619229 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Motor stereotypy, Hypertonia, Failure to thrive, Self-mutilation, Short stature, Aggressive behav... |
OMIM:212066 |
13Q12.3 Microdeletion Syndrome |
|
Failure to thrive, Hyperactivity, Self-mutilation, Short stature, Obesity, Intrauterine growth re... |
ORPHA:412035 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Self-injurious behavior, Short stature, Aggressive behavior, Obesity |
OMIM:600430 |
Autism, Susceptibility To, 3 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608049 |
Chromosome 5P13 Duplication Syndrome |
|
Motor stereotypy, Agenesis of corpus callosum, Small for gestational age |
OMIM:613174 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Motor stereotypy, Failure to thrive, Self-mutilation, Tremor, Gait ataxia, Attention deficit hype... |
ORPHA:476126 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Hypertonia, Inability to walk |
OMIM:619877 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Self-injurious behavior, Recurrent hand flapping |
OMIM:617268 |
Gomez-Lopez-Hernandez Syndrome |
|
Hypertonia, Ataxia, Self-injurious behavior, Hyperactivity, Cognitive impairment, Short stature |
OMIM:601853 |
Pediatric-Onset Graves Disease |
|
Failure to thrive, Polydipsia, Hyperactivity, Hyperkinetic movements, Tremor, Polyphagia, Emotion... |
ORPHA:525731 |
Citrullinemia Type Ii |
|
Hyperactivity, Delayed menarche, Memory impairment, Abnormal eating behavior, Decreased body mass... |
ORPHA:247585 |
Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing |
OMIM:616056 |
Transketolase Deficiency |
|
Motor stereotypy, Proportionate short stature, Self-injurious behavior, Attention deficit hyperac... |
ORPHA:488618 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Clumsiness, Progressive psychomotor deterioration, Abnormal social behavior, Intention tremor, De... |
ORPHA:309263 |
Leber Congenital Amaurosis 1 |
|
Growth delay, Eye poking |
OMIM:204000 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Isometric tremor, Ataxia, Falls, Tics, Spasticity, Emotional lability, Impaired social interactio... |
OMIM:619475 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Ataxia, Recurrent hand flapping, Self-injurious behavior, Poor eye contact, Short stature, Anxiet... |
OMIM:156200 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Ataxia, Hyperactivity, Poor coordination, Anxiety, Spasticity, Aggressive behavior, Obesity |
OMIM:618430 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Attention deficit hyperactivity disorder, Spasticity, Repetitive compulsive behavior, Short stature |
ORPHA:401777 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Motor stereotypy, Postnatal growth retardation, Speech apraxia |
ORPHA:529965 |
Prader-Willi Syndrome Due To Translocation |
|
Motor stereotypy, Happy demeanor, Head-banging, Abnormal social behavior, Short stature, Anxiety,... |
ORPHA:177907 |
16P12.1P12.3 Triplication Syndrome |
|
Failure to thrive, Hyperactivity, Anxiety, Nail-biting, Attention deficit hyperactivity disorder,... |
ORPHA:485405 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Failure to thrive, Decreased body weight, Hyperactivity, Short stature, Babinski sign, Shuffling ... |
OMIM:300534 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Recurrent hand flapping, Spasticity |
OMIM:618859 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Failure to thrive, Hyperactivity, Aggressive behavior, Intrauterine growth retardation |
OMIM:615824 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Motor stereotypy, Hypertonia, Failure to thrive, Short stature, Babinski sign, Spasticity, Agenes... |
OMIM:615802 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Obesity, Mild short stature, Hyperactivity, Intrauterine growth retardation |
OMIM:614613 |
7Q11.23 Microduplication Syndrome |
|
Motor stereotypy, Growth delay, Self-injurious behavior, Hyperactivity, Dysmetria, Short stature,... |
ORPHA:96121 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Motor stereotypy, Incoordination, Overfriendliness, Gait ataxia |
OMIM:616579 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Motor stereotypy, Failure to thrive, Head-banging, Self-injurious behavior, Short stature, Attent... |
OMIM:619575 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Dysphagia, Motor stereotypy, Inability to walk |
OMIM:617802 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Myoclon... |
OMIM:608643 |
Hyperlysinemia |
|
Failure to thrive, Clumsiness, Hyperactivity, Opisthotonus, Dysmetria, Tip-toe gait, Spastic dipl... |
ORPHA:2203 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Motor stereotypy, Ataxia, Poor eye contact, Self-mutilation, Hyperkinetic movements, Chorea, Self... |
ORPHA:522077 |
2Q37 Microdeletion Syndrome |
|
Motor stereotypy, Obesity, Attention deficit hyperactivity disorder, Short stature |
ORPHA:1001 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Hypertonia, Obesity, Stereotypical hand wringing |
OMIM:619854 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Motor stereotypy, Ataxia, Lateral ventricle dilatation, Aggressive behavior, Unsteady gait, Low f... |
ORPHA:457279 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Babinski sign, Spastic paraplegia, Clonus, Upper limb spasticity, Lower limb spast... |
OMIM:609727 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Spasticity, Tongue thrusting |
ORPHA:77299 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Failure to thrive, Hyperactivity |
OMIM:619239 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Dysplastic corpus callosum, Short stature, Stereotypical hand wringing, Spasti... |
OMIM:619179 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Clumsiness, Tip-toe gait, Abnormal social behavior, Decerebrate rigidity, Babinski sign, Frequent... |
ORPHA:309256 |
48,Xxxy Syndrome |
|
Abnormal social behavior, Anxiety, Tremor, Attention deficit hyperactivity disorder, Abnormal agg... |
ORPHA:96263 |
Argininemia |
|
Hyperactivity, Postnatal growth retardation, Spastic paraparesis, Progressive spastic quadriplegi... |
OMIM:207800 |
White-Sutton Syndrome |
|
Motor stereotypy, Hyperactivity, Self-injurious behavior, Short stature, Aggressive behavior, Inc... |
ORPHA:468678 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Growth delay, Short stature, Stereotypical hand wringing, Proportionate short stature, Intrauteri... |
OMIM:612337 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Motor stereotypy, Growth delay, Agenesis of corpus callosum |
ORPHA:261144 |
Van Esch-O'Driscoll Syndrome |
|
Motor stereotypy, Poor eye contact, Short stature, Unilateral vocal cord paralysis, Attention def... |
OMIM:301030 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Motor stereotypy, Ataxia, Cataplexy, Progressive spasticity, Spasticity, Dysphagia, Growth delay,... |
ORPHA:496641 |
Phelan-Mcdermid Syndrome |
|
Motor stereotypy, Broad-based gait, Poor eye contact, Tongue thrusting, Aggressive behavior, Unst... |
OMIM:606232 |
D-Glyceric Aciduria |
|
Failure to thrive, Opisthotonus, Myoclonus, Tongue thrusting, Spasticity, Spastic tetraplegia, Gr... |
OMIM:220120 |
Bainbridge-Ropers Syndrome |
|
Motor stereotypy, Hypertonia, Failure to thrive, Inability to walk, Self-injurious behavior, Recu... |
OMIM:615485 |
Niemann-Pick Disease, Type C2 |
|
Motor stereotypy, Ataxia, Cataplexy, Spasticity, Dysphagia, Dementia |
OMIM:607625 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Motor stereotypy, Decreased body weight, Self-mutilation, Attention deficit hyperactivity disorde... |
OMIM:619005 |
Niemann-Pick Disease Type C |
|
Ataxia, Cataplexy, Abnormal social behavior, Mental deterioration, Chorea, Tremor, Lower limb spa... |
ORPHA:646 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Motor stereotypy, Tetraparesis |
ORPHA:85277 |
Developmental And Epileptic Encephalopathy 87 |
|
Hypertonia, Recurrent hand flapping |
OMIM:618916 |
Leber Congenital Amaurosis 2 |
|
Eye poking |
OMIM:204100 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Motor stereotypy, Hypertonia, Self-injurious behavior, Cerebral palsy, Aggressive behavior |
OMIM:618914 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Ataxia, Apathy, Recurrent hand flapping, Poor eye contact, Tip-toe gait, Abnor... |
ORPHA:3008 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Motor stereotypy, Inability to walk, Self-injurious behavior, Poor eye contact, Limb hypertonia, ... |
ORPHA:457351 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Hyperactivity, Short stature, Cachexia, Tremor, Aggressive behavior, Obesity |
ORPHA:85293 |
3P25.3 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder |
ORPHA:435638 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Dysphagia, Broad-based gait, Gait imbalance, Tongue thrusting |
ORPHA:98795 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Motor stereotypy, Broad-based gait |
OMIM:616351 |
Macrocephaly-Developmental Delay Syndrome |
|
Motor stereotypy, Anxiety, Self-injurious behavior |
ORPHA:397612 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Aggressive behavior, Emotional lability, Impaired social interactions, Agenesis of... |
OMIM:309520 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration |
OMIM:252920 |
Kleefstra Syndrome |
|
Motor stereotypy, Self-injurious behavior, Self-mutilation, Short stature, Aggressive behavior, O... |
ORPHA:261494 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Motor stereotypy, Failure to thrive, Small for gestational age, Anxiety, Birth length less than 3... |
ORPHA:464311 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Self-injurious behavior, Anxiety, Partial age... |
OMIM:619512 |
Developmental And Epileptic Encephalopathy 2 |
|
Motor stereotypy, Myoclonus, Inability to walk, Poor eye contact |
OMIM:300672 |
Mucopolysaccharidosis, Type Iiic |
|
Dysphagia, Motor deterioration, Hyperactivity |
OMIM:252930 |
Angelman Syndrome |
|
Broad-based gait, Clumsiness, Hyperactivity, Progressive gait ataxia, Limb tremor, Obesity |
OMIM:105830 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Weight loss, Hyperactivity, Hand tremor, Small for gestational age |
ORPHA:424 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age, Short stature, Anx... |
ORPHA:464306 |
Kleefstra Syndrome 1 |
|
Motor stereotypy, Obesity, Apathy, Aggressive behavior |
OMIM:610253 |
Megalocornea-Intellectual Disability Syndrome |
|
Motor stereotypy, Ataxia, Short stature |
ORPHA:2479 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypertonia, Ataxia, Hyperactivity, Spastic paraparesis, Cerebral palsy, Spasticity, Abnormal cent... |
ORPHA:760 |
Dyggve-Melchior-Clausen Disease |
|
Failure to thrive, Inability to walk, Hyperactivity, Severe short stature, Disproportionate short... |
ORPHA:239 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Motor stereotypy, Ataxia, Self-injurious behavior, Aggressive behavior, Hair-pulling |
OMIM:616393 |
5Q14.3 Microdeletion Syndrome |
|
Motor stereotypy |
ORPHA:228384 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Motor stereotypy, Agoraphobia, Social and occupational deterioration, Abnormal fear/anxiety-relat... |
ORPHA:353281 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Motor stereotypy, Hypertonia, Self-injurious behavior, Severe short stature, Severe failure to th... |
ORPHA:468631 |
Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Action tremor, Repetitive compulsive behavior, Growth delay, Lower limb spasticity, Intra... |
ORPHA:66634 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Motor stereotypy |
ORPHA:500159 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hyperactivity, Self-biting |
OMIM:618314 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Motor stereotypy, Broad-based gait, Ataxia, Poor gross motor coordination, Hyperactivity, Hand tr... |
OMIM:614756 |
Nmda Receptor Encephalitis |
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Motor stereotypy, Opisthotonus, Myoclonus, Anxiety, Rigidity, No social interaction, Chorea, Memo... |
ORPHA:217253 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Familial Gestational Hyperthyroidism |
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Weight loss, Hyperactivity, Hand tremor |
ORPHA:99819 |
Joubert Syndrome 6 |
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Motor stereotypy, Oculomotor apraxia, Ataxia |
OMIM:610688 |
Hyperthyroidism, Nonautoimmune |
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Hyperactivity, Small for gestational age |
OMIM:609152 |
Mucopolysaccharidosis Type 2 |
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Motor stereotypy, Hyperactivity, Cognitive impairment, Mental deterioration, Short stature, Progr... |
ORPHA:580 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Motor stereotypy, Agoraphobia, Social and occupational deterioration, Abnormal fear/anxiety-relat... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Motor stereotypy, Agoraphobia, Social and occupational deterioration, Abnormal fear/anxiety-relat... |
ORPHA:353277 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Motor stereotypy, Hypertonia, Inability to walk, Opisthotonus, No social interaction, Disproporti... |
ORPHA:508533 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Ataxia, Dysmetria, Abnormal social behavior, Intention tremor, Nonprogressive cerebellar ataxia, ... |
ORPHA:314647 |
Leber Congenital Amaurosis 8 |
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Eye poking |
OMIM:613835 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
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Motor stereotypy, Broad-based gait, Ataxia, Dysmetria, Short stature, Truncal ataxia, Speech apra... |
OMIM:617330 |
Mend Syndrome |
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Failure to thrive, Hyperactivity, Abnormal social behavior, Short stature, Limb hypertonia, Aggre... |
ORPHA:401973 |
Fg Syndrome Type 1 |
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Broad-based gait, Slender build, Short stature, Abnormal social behavior, Attention deficit hyper... |
ORPHA:93932 |
Pitt-Hopkins Syndrome |
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Motor stereotypy, Incoordination, Gait ataxia, Self-injurious behavior |
OMIM:610954 |
Bainbridge-Ropers Syndrome |
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Hypertonia, Inability to walk, Recurrent hand flapping |
ORPHA:352577 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
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Failure to thrive, Ataxia, Tip-toe gait, Self-mutilation, Short stature, Spastic diplegia, Cerebr... |
OMIM:619950 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
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Motor stereotypy, Postnatal growth retardation, Growth delay, Spasticity |
OMIM:301040 |
Leber Congenital Amaurosis 9 |
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Eye poking |
OMIM:608553 |
Developmental And Epileptic Encephalopathy 100 |
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Motor stereotypy, Myoclonus, Chorea, Choreoathetosis, Gait ataxia, Dysphagia |
OMIM:619777 |
1P36 Deletion Syndrome |
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Motor stereotypy, Failure to thrive, Hemiplegia/hemiparesis, Self-injurious behavior, Short statu... |
ORPHA:1606 |
Legius Syndrome |
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Attention deficit hyperactivity disorder, Short stature, Hyperactivity, Cognitive impairment |
ORPHA:137605 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Motor stereotypy, Hyperactivity, Small for gestational age, Poor coordination, Spastic diplegia, ... |
OMIM:309590 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
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Broad-based gait, Failure to thrive, Hemiparesis, Tongue thrusting, Aggressive behavior, Obesity |
ORPHA:369950 |
Hydroxykynureninuria |
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Motor stereotypy, Hypertonia |
ORPHA:79155 |
Kinsship Syndrome |
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Motor stereotypy, Failure to thrive, Short stature, Myoclonus, Spastic tetraparesis |
OMIM:619297 |
Norrie Disease |
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Motor stereotypy, Hypertonia, Failure to thrive, Self-injurious behavior, Cachexia, Anxiety, Atte... |
ORPHA:649 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Broad-based gait, Hypertonia, Ataxia, Small for gestational age, Short stature, Anxiety, Stereoty... |
ORPHA:268261 |
Dpagt1-Cdg |
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Hypertonia, Ataxia, Head-banging, Inability to walk, Akinesia, Stereotypical body rocking, Failur... |
ORPHA:86309 |
Microcephaly 29, Primary, Autosomal Recessive |
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Ataxia, Hyperactivity, Emotional lability |
OMIM:620047 |
Tuberous Sclerosis Complex |
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Self-injurious behavior, Hyperactivity, Abnormal social behavior, Anxiety, Attention deficit hype... |
ORPHA:805 |
Cardiofaciocutaneous Syndrome 1 |
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Hypertonia, Failure to thrive, Short stature, Tongue thrusting, Oculomotor apraxia |
OMIM:115150 |
Early Infantile Epileptic Encephalopathy |
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Failure to thrive, Self-injurious behavior, Hyperactivity, Myoclonus, Tremor, Choreoathetosis, Sp... |
ORPHA:1934 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Motor stereotypy, Broad-based gait, Failure to thrive, Stereotypical body rocking, Gait ataxia, R... |
ORPHA:513456 |
Oculocerebrorenal Syndrome Of Lowe |
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Motor stereotypy, Failure to thrive, Self-injurious behavior, Short stature, Anxiety, Attention d... |
ORPHA:534 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Motor stereotypy, Obesity, Aggressive behavior |
OMIM:301066 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Overfriendliness, Slender build, Abnormal social behavior, Small for gestational age, Anxiety, Sp... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Overfriendliness, Slender build, Abnormal social behavior, Small for gestational age, Anxiety, Sp... |
ORPHA:363958 |
Monosomy 22Q13.3 |
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Obesity, Hyperactivity, Agenesis of corpus callosum, Hair-pulling |
ORPHA:48652 |
Ogden Syndrome |
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Torticollis, Hypertonia, Motor stereotypy, Postnatal growth retardation, Short stature, Dysphagia... |
OMIM:300855 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Motor stereotypy, Obesity, Difficulty walking |
OMIM:618653 |
Arboleda-Tham Syndrome |
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Motor stereotypy, Gait imbalance, Lower limb hypertonia, Dysphagia, Growth delay, Intrauterine gr... |
OMIM:616268 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Motor stereotypy, Agenesis of corpus callosum, Short stature |
ORPHA:508498 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Motor stereotypy, Hypertonia, Poor eye contact, Spastic tetraparesis, Growth delay, Intrauterine ... |
OMIM:301044 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Hypertonia, Inability to walk, Abnormal social behavior, Abnormal aggressive, impulsive or violen... |
ORPHA:1675 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Motor stereotypy, Exaggerated startle response, Short stature, Attention deficit hyperactivity di... |
OMIM:619522 |
Wolf-Hirschhorn Syndrome |
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Motor stereotypy, Failure to thrive, Small for gestational age, Severe postnatal growth retardati... |
OMIM:194190 |
Mgat2-Cdg |
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Failure to thrive, Stereotypical hand wringing |
ORPHA:79329 |
Primrose Syndrome |
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Motor stereotypy, Ataxia, Self-injurious behavior, Short stature, Anxiety, Truncal obesity, Tics,... |
OMIM:259050 |
Lowe Oculocerebrorenal Syndrome |
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Motor stereotypy, Failure to thrive, Aggressive behavior, Short stature |
OMIM:309000 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Motor stereotypy, Unsteady gait |
OMIM:616682 |
Mowat-Wilson Syndrome |
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Motor stereotypy, Happy demeanor, Ataxia, Broad-based gait, Inability to walk, Decreased body wei... |
ORPHA:2152 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Broad-based gait, Inability to walk, Exaggerated startle response, Short stature, Myoclonus, Ster... |
ORPHA:438213 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Motor stereotypy, Happy demeanor, Broad-based gait, Inability to walk, Failure to thrive, Poor fi... |
ORPHA:261537 |
Coffin-Siris Syndrome 12 |
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Motor stereotypy, Failure to thrive, Short stature |
OMIM:619325 |
Williams Syndrome |
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Overfriendliness, Gait imbalance, Ataxia, Dysmetria, Abnormal social behavior, Short stature, Anx... |
ORPHA:904 |
Trichotillomania |
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Hair-pulling |
OMIM:613229 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Motor stereotypy, Happy demeanor, Broad-based gait, Inability to walk, Failure to thrive, Poor fi... |
ORPHA:261552 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Broad-based gait, Failure to thrive, Stereotypical body rocking, Tip-toe gait, Falls, Dysphagia, ... |
OMIM:619503 |