Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Reduced so... |
OMIM:608636 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Inflexible adherence to routines, Motor stereotypy, Impaired ability to for... |
OMIM:607373 |
Autism |
|
Restrictive behavior, Inflexible adherence to routines, Motor stereotypy, Impaired ability to for... |
OMIM:209850 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity, Short attention span |
OMIM:608443 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity, Short attention span |
DECIPHER:19 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors, Reduced social reciprocity |
OMIM:618830 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
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Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617787 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Autism, Susceptibility To, X-Linked 3 |
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Inflexible adherence to routines, Restrictive behavior, Increased serum serotonin, Motor stereotypy |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
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Inflexible adherence to routines, Restrictive behavior, Increased serum serotonin, Motor stereotypy |
OMIM:300425 |
N-Acetylaspartate Deficiency |
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Broad-based gait, Truncal ataxia, Short attention span, Unsteady gait, Motor stereotypy, Self-mut... |
OMIM:614063 |
Asperger Syndrome, Susceptibility To, 1 |
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Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
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Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... |
OMIM:608631 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
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Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy |
OMIM:618709 |
Behavioral Variant Of Frontotemporal Dementia |
|
Inappropriate behavior, Irritability, Emotional blunting, Restrictive behavior, Frontotemporal de... |
ORPHA:275864 |
Pick Disease Of Brain |
|
Irritability, Emotional blunting, Frontotemporal dementia, Polyphagia, Inappropriate laughter, Di... |
OMIM:172700 |
Intellectual Developmental Disorder With Autism And Speech Delay |
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Inability to walk, Reduced social reciprocity, Motor stereotypy |
OMIM:606053 |
Pandas |
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Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... |
ORPHA:66624 |
Childhood Disintegrative Disorder |
|
Abnormal emotion, Mental deterioration, Progressive language deterioration, Reduced social recipr... |
ORPHA:168782 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
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Emotional lability, Agitation, Motor stereotypy, Aggressive behavior |
OMIM:617171 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
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Inappropriate behavior, Frontotemporal dementia, Memory impairment, Gait disturbance, Disinhibiti... |
OMIM:600795 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
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Frontotemporal dementia, Emotional lability, Disinhibition, Dysphagia, Motor stereotypy, Amyotrop... |
OMIM:612069 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia |
OMIM:234500 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior |
ORPHA:208441 |
Landau-Kleffner Syndrome |
|
Aggressive behavior, Memory impairment, Hyperactivity, Depression, Emotional lability, Short atte... |
ORPHA:98818 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
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Falls, Chorea, Inappropriate laughter, Ataxia, Motor stereotypy, Bruxism, Aggressive behavior |
OMIM:619150 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Motor stereotypy |
OMIM:300271 |
Developmental And Epileptic Encephalopathy 43 |
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Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity |
OMIM:617113 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
Autism, Susceptibility To, X-Linked 2 |
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Inflexible adherence to routines, Restrictive behavior, Increased serum serotonin, Motor stereotypy |
OMIM:300495 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Compulsive behaviors, Inflexible adherence to routines, Motor stereotypy, Attention deficit hyper... |
OMIM:613670 |
Juvenile Huntington Disease |
|
Bradykinesia, Irritability, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Depre... |
ORPHA:248111 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620065 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Pica, Motor stereotypy, Self-injurious behavior, Choreoathetosis, Aggressive behavior |
OMIM:617270 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
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Hyperactivity, Dysphagia, Impulsivity, Gait ataxia |
OMIM:620448 |
Foxg1 Syndrome |
|
Difficulty walking, Inability to walk, Stereotypical hand wringing, Cognitive impairment, Reduced... |
ORPHA:561854 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
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Self-injurious behavior, Inability to walk, Reduced social reciprocity, Motor stereotypy |
OMIM:617820 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
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Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy |
OMIM:617862 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Continuous spike and waves ... |
OMIM:301008 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior |
OMIM:239500 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Lennox-Gastaut Syndrome |
|
Irritability, Falls, Hyperactivity, Mental deterioration, Aggressive behavior |
ORPHA:2382 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Mental deterioration |
OMIM:615924 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy |
OMIM:618906 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
Glycine Encephalopathy 1 |
|
Irritability, Hyperactivity, Impulsivity, Restlessness, Lethargy, Aggressive behavior |
OMIM:605899 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Inflexible adherence to routines, Motor stereotypy, Impaired ability to for... |
OMIM:608049 |
Fraxe Intellectual Disability |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Bradykinesia, Nail-biting, Memory impairment, Hyperactivity, Attention de... |
OMIM:619827 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Recurrent hand flapping, Short... |
ORPHA:449291 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Motor stereotypy |
OMIM:617830 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Progressive language deterioration, Ataxia, Reduced social reciprocity, Motor ster... |
OMIM:610042 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Diminished ability to concentrate, Unsteady gait, Self-mu... |
OMIM:615516 |
Pontocerebellar Hypoplasia, Type 11 |
|
Limb ataxia, Difficulty walking, Inability to walk, Broad-based gait, Ataxia, Dysphagia, Motor st... |
OMIM:617695 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Compulsive behaviors, Hypothyroidism, Motor tics, Attention deficit hyperactivity ... |
OMIM:619927 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Broad-based gait, Hyperactivity, Polyphagia, Short attention span, Inappropriate laughter, Ataxia |
ORPHA:411515 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Motor stereotypy, Aggressive behavior |
OMIM:619470 |
X-Linked Adrenoleukodystrophy |
|
Abnormality of adrenal physiology, Hyperactivity, Gait disturbance, Cognitive impairment, Disinhi... |
ORPHA:43 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Gait ataxia, Motor stereotypy, Aggressive behavior |
OMIM:609425 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Irritability, Difficulty walking, Motor stereotypy |
OMIM:617393 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Motor stereotypy, Attention deficit hyperactivity disorder, Aggres... |
OMIM:301029 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
Hsd10 Disease |
|
Abnormal social behavior, Short attention span, Gait disturbance, Ataxia, Dysphagia, Choreoathetosis |
ORPHA:391417 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Agitation, Emotional lability, Confusion, Cognitive impairment, Ataxia, Delirium, Motor stereotyp... |
ORPHA:927 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Polymicrogyria, Gray matter heterotopia, Impulsivity, Abnormality of neuronal migr... |
OMIM:604317 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Delayed early-childhood social milestone development, Hyperactivity, Gait dist... |
OMIM:618090 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Inability to walk, Hyperactivity, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal ... |
OMIM:618718 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal temper tantrums, Hyperactivity, EEG with focal spikes, Interictal epileptiform activity,... |
ORPHA:163681 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Bradykinesia, Chorea, Ataxia, Motor stereotypy, Motor tics, Attention deficit hyperactivity disorder |
OMIM:619725 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... |
ORPHA:3077 |
Phenylketonuria |
|
Irritability, Hyperactivity, Depression, Compulsive behaviors, Attention deficit hyperactivity di... |
OMIM:261600 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Agitation, Abnormal social behavior, Memory impairment, Confusion, Semantic dementia, Disinhibiti... |
ORPHA:1020 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Inability to walk, Tongue thrusting, Emotional lability, Recurrent hand flapping, Short attention... |
OMIM:619580 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Emotional lability, Cognitive impairment, Progressive language deterioration, Loss of... |
ORPHA:79264 |
Rasmussen Subacute Encephalitis |
|
Irritability, Memory impairment, Hyperactivity, EEG with focal spikes, Increased theta frequency ... |
ORPHA:1929 |
Rett Syndrome |
|
Bradykinesia, Agitation, Difficulty walking, Inability to walk, Stereotypical hand wringing, Gait... |
ORPHA:778 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Motor stereotypy |
OMIM:615282 |
Baker-Gordon Syndrome |
|
Inability to walk, Ataxia, Motor stereotypy, Self-injurious behavior, Choreoathetosis |
OMIM:618218 |
Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Chorea, Abnormal fear-induced behavior, Cognitive impairment |
ORPHA:309246 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Chorea, Compulsive behaviors, Stereotypical hand wringing, Gait ataxia, Motor ... |
OMIM:618917 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Obsessive-compulsive trait, Pain insensitivity, Motor stereotypy, Attention deficit hyperactivity... |
OMIM:618825 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... |
OMIM:620141 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Depression, Short attention span, Dysphoria, Motor stereotypy, Attention deficit h... |
OMIM:620242 |
Graves Disease |
|
Increased circulating free T3, Irritability, Decreased thyroid-stimulating hormone level, Hyperac... |
OMIM:275000 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Obsessive-compulsive trait, EEG with spike-wave complexes, Hyperactivity, Mental deterioration, L... |
ORPHA:168491 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... |
OMIM:617044 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Progressive psychomotor deterioration, Hyperactivity, Gait ataxia, Cognitive im... |
ORPHA:363400 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Compulsive behaviors, Repetitive compulsive behavior, Motor stereotypy, Attention ... |
ORPHA:352490 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Short attention span, Motor stereotypy, Attention deficit hyperactivity disorder, ... |
OMIM:618342 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior |
OMIM:620292 |
Xq28 (MECP2) duplication |
|
Inability to walk, Depression, Gait ataxia, Dysphagia, Motor stereotypy |
DECIPHER:45 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Chorea, Recurrent hand flapping, Motor stereotypy, Attention deficit hyperactivity... |
OMIM:617600 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Hyperlysinemia, Type I |
|
Hyperactivity, Dysdiadochokinesis, Short attention span, Cognitive impairment |
OMIM:238700 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Chorea, Athetosis, Ataxia, Self-injurious behavior, Aggressive behavior |
ORPHA:382 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Short attention span, Elevated circulating growth hormone concentration, Decreased... |
OMIM:608747 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Difficulty walking, Waddling gait, Motor stereotypy, Excessive shyness |
ORPHA:280763 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Stereotypical hand wringing, Gait disturbance, Inappropriate laughter, Ataxia, Mot... |
OMIM:614104 |
Lopes-Maciel-Rodan Syndrome |
|
Bradykinesia, Agitation, Unsteady gait, Dysphagia, Motor stereotypy, Bruxism |
OMIM:617435 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Motor stereotypy |
OMIM:619690 |
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities |
|
Hyperactivity, Chorea, Waddling gait, Impulsivity, Gait ataxia, Self-mutilation, Paroxysmal burst... |
OMIM:620445 |
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620502 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Polyphagia, Ataxia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts o... |
ORPHA:228402 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Attention deficit hyperactivity disorder, Depression, Motor stereotypy, Cognitive impairment |
ORPHA:98784 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Motor stereotypy, Aggressive behavior |
OMIM:615541 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Difficulty walking, Inability to walk, Memory impairment, Hyperactivity, Confusion, Short attenti... |
ORPHA:139396 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Agitation, Hyperactivity, Short attention span, Restlessness, Aggressive behavior |
OMIM:300558 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Spastic gait, Scissor gait, Truncal ataxia, Motor stereotypy, Attention deficit hyperactivity dis... |
OMIM:619121 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Confusion, Delirium, R... |
ORPHA:100924 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Recurrent hand flapping, Short... |
ORPHA:98794 |
48,Xxyy Syndrome |
|
Depression, Hypergonadotropic hypogonadism, Ataxia, Type II diabetes mellitus, Motor stereotypy, ... |
ORPHA:10 |
Developmental And Epileptic Encephalopathy 6B |
|
Inability to walk, Chorea, Ataxia, Motor stereotypy, Choreoathetosis |
OMIM:619317 |
Lamb-Shaffer Syndrome |
|
Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Ataxia, Motor stereotypy |
ORPHA:530983 |
Christianson Syndrome |
|
Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Motor stereotypy |
ORPHA:85278 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Memory impairment, Compulsive behaviors, Diminished ability to concentrate, Ataxia, Reduced socia... |
OMIM:615656 |
Young-Onset Parkinson Disease |
|
Bradykinesia, Agitation, Gait imbalance, Depression, Short attention span, Impulsivity, Cognitive... |
ORPHA:2828 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy, Aggressive b... |
ORPHA:313892 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Recurrent hand flapping, Compulsive behaviors, Gait disturbance, Ataxia, Motor stereotypy, Attent... |
OMIM:300986 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Hyperactivity, Chorea, Impaired pain sensation, Impulsivity, Gait ataxia, Dysp... |
ORPHA:500180 |
Myoclonic-Astatic Epilepsy |
|
Abnormal emotion, Hyperactivity, Ataxia, Reduced social reciprocity, Unsteady gait, Attention def... |
ORPHA:1942 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Emotional lability, Short attention span, Impulsivity, Gait disturbance, Choking e... |
ORPHA:35069 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behav... |
ORPHA:101039 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Bradykinesia, Hyperactivity, Emotional lability, Dysdiadochokinesis, Chorea, Short attention span... |
OMIM:610217 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618504 |
Primary Dystonia, Dyt13 Type |
|
Motor stereotypy |
ORPHA:98807 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Stereotypical hand wringing, Hypothyroidism, Skin-picking, Motor stereotypy, Pain ... |
OMIM:600430 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Depression, Gait disturbance, Motor stereo... |
ORPHA:457240 |
Coffin-Siris Syndrome 6 |
|
Attention deficit hyperactivity disorder, Tics, Motor stereotypy |
OMIM:617808 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Impaired tactile sensation, Ataxia, Motor stereotypy, Gait ataxia |
OMIM:619092 |
Smith-Magenis Syndrome |
|
Hyperactivity, Head-banging, Impaired pain sensation, Self hugging, Motor stereotypy, Pain insens... |
OMIM:182290 |
Childhood Absence Epilepsy |
|
Attention deficit hyperactivity disorder, Depression, Punding, Abnormal social behavior |
ORPHA:64280 |
Gomez-Lopez-Hernandez Syndrome |
|
Decreased response to growth hormone stimulation test, Hyperactivity, Depression, Cognitive impai... |
OMIM:601853 |
Cri-Du-Chat Syndrome |
|
Difficulty walking, Hyperactivity, Short attention span, Oppositional defiant disorder, Motor ste... |
OMIM:123450 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Inability to walk, Depression, Chorea, Hostility, Ataxia, Dysphagia, Repetitive compulsive behavi... |
OMIM:300260 |
Snijders Blok-Campeau Syndrome |
|
Attention deficit hyperactivity disorder, Unsteady gait, Motor stereotypy, Broad-based gait |
OMIM:618205 |
Optic Atrophy 11 |
|
Hyperactivity, Athetosis, Gait apraxia, Stereotypical body rocking, Ataxia, Attention deficit hyp... |
OMIM:617302 |
Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Motor stereotypy |
OMIM:613886 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Hyperactivity, Impulsivity, Reduced social reciprocity, Atten... |
ORPHA:8 |
Galloway-Mowat Syndrome 6 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Motor stereotypy, Paroxysm... |
OMIM:618347 |
Choreoacanthocytosis |
|
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Chorea, Dysphagia, Mo... |
ORPHA:2388 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Irritability, Motor stereotypy, Aggressive behavior |
ORPHA:391307 |
Rett Syndrome, Congenital Variant |
|
Irritability, Tongue thrusting, Chorea, Athetosis, Reduced social reciprocity, Motor stereotypy, ... |
OMIM:613454 |
22Q11.2 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Aplasia/Hypoplasia of the thymus, Compulsive behaviors,... |
ORPHA:1727 |
Citrullinemia Type Ii |
|
Irritability, Memory impairment, Hyperactivity, Confusion, Delayed menarche, Restlessness, Deliri... |
ORPHA:247585 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Gait disturbance, Reduced social reciprocity, Motor stereotypy, Attention defic... |
OMIM:300352 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Recurrent hand flapping, Stereotypical hand wringing, Central hypothyroidism, Ster... |
OMIM:300912 |
Radio-Tartaglia Syndrome |
|
Gait imbalance, Impulsivity, Precocious puberty, Ataxia, Dysphagia, Motor stereotypy, Attention d... |
OMIM:619312 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Precocious puberty, Hypogonadism, Motor stereotypy, Self-biting, Aggressive behavior |
ORPHA:3306 |
Houge-Janssens Syndrome 3 |
|
Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy |
OMIM:618354 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Motor stereotypy |
OMIM:615637 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty, Inability to walk, Motor stereotypy |
OMIM:619877 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Compulsive behaviors, Dysphagia, Motor stereotypy, Pain insensitivity, Attention deficit hyperact... |
OMIM:617061 |
Brain-Lung-Thyroid Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Falls, Hypera... |
ORPHA:209905 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Attention deficit hyperactivity disorder, Low frustration tolerance, Motor stereotypy, Overfriend... |
OMIM:619293 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Choreoathetosis, Reduced social reciprocity, Motor ster... |
ORPHA:261197 |
Developmental And Epileptic Encephalopathy 64 |
|
Inability to walk, Chorea, Motor stereotypy, Self-injurious behavior, Bruxism |
OMIM:618004 |
Transketolase Deficiency |
|
Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious ... |
ORPHA:488618 |
Smith-Magenis Syndrome |
|
Delayed puberty, Impaired pain sensation, Gait disturbance, Hypothyroidism, Precocious puberty, M... |
ORPHA:819 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Low frustration tolerance, Gait ataxia, Motor stereotypy, Self-mutilation |
OMIM:300486 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
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Hyperactivity, Compulsive behaviors, Ataxia, Motor stereotypy, Aggressive behavior |
OMIM:618430 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
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Obsessive-compulsive trait, Irritability, Hyperactivity, Hypothyroidism, Motor stereotypy, Pica |
OMIM:617796 |
Potocki-Lupski Syndrome |
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Hyperactivity, Hypothyroidism, Motor stereotypy, Oral-pharyngeal dysphagia |
OMIM:610883 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
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Inability to walk, Motor stereotypy |
OMIM:613443 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
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Difficulty walking, Broad-based gait, Motor stereotypy, Gait ataxia |
OMIM:617807 |
Hijazi-Reis Syndrome |
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Gait disturbance, Motor stereotypy |
OMIM:301094 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Inability to walk, Motor stereotypy |
ORPHA:411986 |
Mucopolysaccharidosis, Type Iiib |
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Hyperactivity, Progressive neurologic deterioration, Aggressive behavior |
OMIM:252920 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
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Hair-pulling, Ataxia, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressive behavior |
OMIM:616393 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... |
ORPHA:85327 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Inability to walk, Delayed early-childhood social milestone development, Emotional lability, Shor... |
ORPHA:300570 |
Ritscher-Schinzel Syndrome 4 |
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Chorea, Athetosis, Impulsivity, Ataxia, Dysphagia, Motor stereotypy, Aggressive behavior |
OMIM:619435 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
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Attention deficit hyperactivity disorder, Precocious puberty, Motor stereotypy |
OMIM:620073 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
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Impaired pain sensation, Motor stereotypy, Overfriendliness, Gait ataxia |
OMIM:616579 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Compulsive behaviors, Gait ataxia, Motor stereotypy, Attention deficit hyperactivity disorder, Se... |
ORPHA:476126 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Head-banging, Attention deficit hyperactivity disorder, Motor stereotypy, Frequent temper tantrums |
OMIM:619103 |
3P25.3 Microdeletion Syndrome |
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Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy |
ORPHA:435638 |
Developmental And Epileptic Encephalopathy 66 |
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Motor stereotypy, Broad-based gait |
OMIM:618067 |
Niemann-Pick Disease, Type C2 |
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Ataxia, Dysphagia, Motor stereotypy, Dementia |
OMIM:607625 |
X-Linked Intellectual Disability, Cantagrel Type |
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Motor stereotypy |
ORPHA:85277 |
Cystinosis |
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Polydipsia, Delayed puberty, Gait disturbance, Nephrogenic diabetes insipidus, Hypothyroidism, Mo... |
ORPHA:213 |
Bilateral Generalized Polymicrogyria |
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Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia |
ORPHA:208447 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Obsessive-compulsive trait, Bradykinesia, Akinesia, Dementia, Hyperactivity, Depression, Gait dis... |
OMIM:234200 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
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Bruxism, Motor stereotypy, Broad-based gait |
OMIM:616351 |
Nmda Receptor Encephalitis |
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Agitation, Memory impairment, Depression, Chorea, Confusion, Short attention span, Neoplasm of th... |
ORPHA:217253 |
Coffin-Siris Syndrome 7 |
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Hyperactivity, Severe temper tantrums, Compulsive behaviors, Motor stereotypy |
OMIM:618027 |
Alazami Syndrome |
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Self-mutilation, Abnormal eating behavior, Motor stereotypy, Stereotypical hand wringing |
ORPHA:319671 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
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Ataxia, Motor stereotypy |
OMIM:619428 |
5Q14.3 Microdeletion Syndrome |
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Motor stereotypy |
ORPHA:228384 |
Den Hoed-De Boer-Voisin Syndrome |
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Agitation, Inability to walk, Short attention span, Stereotypical hand wringing, Ataxia, Dysphagi... |
OMIM:619229 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
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Hyperactivity, Motor stereotypy |
OMIM:617751 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Abnormal temper tantrums, Low frustration tolerance, Ataxia, Unsteady gait, Motor stereotypy, Agg... |
ORPHA:457279 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Irritability, Hair-pulling, Hyperactivity, Dysphagia, Motor stereotypy |
ORPHA:447997 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Diabetes mellitus, Motor stereotypy |
ORPHA:500159 |
White-Sutton Syndrome |
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Irritability, Hyperactivity, Waddling gait, Tics, Motor stereotypy, Overfriendliness, Self-injuri... |
OMIM:616364 |
Wiedemann-Steiner Syndrome |
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Decreased response to growth hormone stimulation test, Hyperactivity, Low frustration tolerance, ... |
ORPHA:319182 |
4Q21 Microdeletion Syndrome |
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Self-injurious behavior, Motor stereotypy |
ORPHA:238750 |
Neuroblastoma |
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Elevated circulating catecholamine level, Irritability, Ataxia, Antalgic gait |
ORPHA:635 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
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Inability to walk, Dysphagia, Motor stereotypy |
OMIM:617802 |
2Q37 Microdeletion Syndrome |
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Attention deficit hyperactivity disorder, Compulsive behaviors, Motor stereotypy |
ORPHA:1001 |
Pituitary Adenoma 4, Acth-Secreting |
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Emotional lability, Increased circulating ACTH level, Pituitary adenoma, Abnormal fear-induced be... |
OMIM:219090 |
Hyperthyroidism, Nonautoimmune |
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Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... |
OMIM:609152 |
Phelan-Mcdermid Syndrome |
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Tongue thrusting, Broad-based gait, Impaired pain sensation, Unsteady gait, Reduced social recipr... |
OMIM:606232 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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Self-injurious behavior, Motor stereotypy, Impulsivity, Aggressive behavior |
OMIM:618914 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Head-banging, Short attention span, Frequent temper tantrums, Motor stereotypy, Attention deficit... |
OMIM:619575 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
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Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Glomus jugular tumo... |
OMIM:168000 |
Trichotillomania |
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Compulsive behaviors, Hair-pulling |
OMIM:613229 |
Prader-Willi Syndrome Due To Translocation |
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Abnormal temper tantrums, Decreased response to growth hormone stimulation test, Abnormal social ... |
ORPHA:177907 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Abnormal social behavior, Memory impairment, Nonprogressive cerebellar ataxia, Ataxia, Unsteady g... |
ORPHA:314647 |
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
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Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious ... |
OMIM:620494 |
Chromosome 5P13 Duplication Syndrome |
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Self-injurious behavior, Compulsive behaviors, Motor stereotypy |
OMIM:613174 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Hair-pulling, Nail-biting, Broad-based gait, Emotional lability, Polyphagia, Fixated interests, M... |
OMIM:620330 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
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Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Paraganglioma, Elevated circulating... |
OMIM:605373 |
Macrocephaly-Developmental Delay Syndrome |
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Self-injurious behavior, Motor stereotypy |
ORPHA:397612 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Delayed puberty, Hyperactivity, Impulsivity, Cognitive impairment, Ataxia, Bruxism, Aggressive be... |
OMIM:619475 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
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Motor stereotypy |
ORPHA:529965 |
Van Esch-O'Driscoll Syndrome |
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Impulsivity, Excessive shyness, Motor stereotypy, Attention deficit hyperactivity disorder, Hypog... |
OMIM:301030 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Attention deficit hyperactivity disorder, Impaired pain sensation, Self-mutilation, Motor stereotypy |
OMIM:619005 |
Megalocornea-Intellectual Disability Syndrome |
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Hypothyroidism, Ataxia, Motor stereotypy |
ORPHA:2479 |
Joubert Syndrome 6 |
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Ataxia, Motor stereotypy |
OMIM:610688 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
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Dysphagia, Motor stereotypy |
ORPHA:572013 |
Pilarowski-Bjornsson Syndrome |
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Motor stereotypy |
OMIM:617682 |
Tuberous Sclerosis Complex |
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Abnormal social behavior, Pancreatic endocrine tumor, Hyperactivity, Depression, Pheochromocytoma... |
ORPHA:805 |
Pure Autonomic Failure |
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Abnormality of circulating catecholamine level |
ORPHA:441 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
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Inappropriate laughter, Motor stereotypy |
OMIM:615802 |
Mucopolysaccharidosis Type 2 |
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Abnormal temper tantrums, Hyperactivity, Short attention span, Impulsivity, Cognitive impairment,... |
ORPHA:580 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Somatic sensory dysfunction, Abnormal emotion, Difficulty walking, Distal sensory impairment, Nai... |
ORPHA:642 |
Congenital Disorder Of Glycosylation, Type Iia |
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Stereotypical hand wringing, Unsteady gait, Motor stereotypy, Self-mutilation, Aggressive behavior |
OMIM:212066 |
Rauch-Steindl Syndrome |
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Hyperactivity, Motor stereotypy, Aggressive behavior |
OMIM:619695 |
Microcephaly 29, Primary, Autosomal Recessive |
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Hyperactivity, Emotional lability, Ataxia |
OMIM:620047 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Chorea, Ataxia, Repetitive compulsive behavior, Motor stereotypy, Choreoathetosis, Self-mutilatio... |
ORPHA:522077 |
Hydroxykynureninuria |
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Motor stereotypy |
ORPHA:79155 |
Helsmoortel-Van Der Aa Syndrome |
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Irritability, Decreased response to growth hormone stimulation test, Hyperactivity, Polyphagia, C... |
OMIM:615873 |
7Q11.23 Microduplication Syndrome |
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Hyperactivity, Polyphagia, Collectionism, Reduced social reciprocity, Motor stereotypy, Unsteady ... |
ORPHA:96121 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
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Motor stereotypy |
ORPHA:261144 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Precocious puberty, Short attention span, Motor stereotypy, Aggressive behavior |
OMIM:301066 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Broad-based gait, Hyperactivity, Gait ataxia, Ataxia, Unsteady gait, Motor stereotypy, Attention ... |
OMIM:614756 |
Bainbridge-Ropers Syndrome |
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Inability to walk, Recurrent hand flapping, Precocious puberty, Motor stereotypy, Self-injurious ... |
OMIM:615485 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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Self-injurious behavior, Inability to walk, Motor stereotypy |
ORPHA:457351 |
Kleefstra Syndrome 1 |
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Compulsive behaviors, Motor stereotypy, Aggressive behavior |
OMIM:610253 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Attention deficit hyperactivity disorder, Posterior pituitary hypoplasia, Gait disturbance, Motor... |
ORPHA:464311 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Ataxia, Dysphagia, Motor stereotypy |
ORPHA:496641 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... |
ORPHA:353281 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Hyperactivity, Depression, Ataxia, Choreoathetosis, Aggressive behavior |
OMIM:612716 |
Familial Gestational Hyperthyroidism |
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Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating... |
ORPHA:99819 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating... |
ORPHA:424 |
White-Sutton Syndrome |
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Hyperactivity, Compulsive behaviors, Motor stereotypy, Self-injurious behavior, Aggressive behavior |
ORPHA:468678 |
Developmental And Epileptic Encephalopathy 2 |
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Inability to walk, Motor stereotypy |
OMIM:300672 |
Pitt-Hopkins Syndrome |
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Self-injurious behavior, Motor stereotypy, Gait ataxia |
OMIM:610954 |
Kleefstra Syndrome |
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Self-injurious behavior, Self-mutilation, Motor stereotypy, Aggressive behavior |
ORPHA:261494 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
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Broad-based gait, Truncal ataxia, Gait ataxia, Ataxia, Dysphagia, Motor stereotypy, Pain insensit... |
OMIM:617330 |
Developmental And Epileptic Encephalopathy 100 |
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Chorea, Gait ataxia, Dysphagia, Motor stereotypy, Choreoathetosis |
OMIM:619777 |
Monosomy 22Q13.3 |
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Hyperactivity, Bruxism, Impaired pain sensation, Hair-pulling |
ORPHA:48652 |
Oculocerebrorenal Syndrome Of Lowe |
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Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Diabete... |
ORPHA:534 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Hyperactivity, Compulsive behaviors, Frequent temper tantrums, Motor stereotypy, Self-injurious b... |
OMIM:619512 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Hyperactivity, Anterior pituitary hypoplasia, Gait disturbance, Motor stereotypy |
ORPHA:464306 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... |
ORPHA:353277 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Inability to walk, Motor stereotypy |
ORPHA:508533 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Broad-based gait, Gait ataxia, Stereotypical body rocking, Repetitive compulsive behavior, Motor ... |
ORPHA:513456 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Motor stereotypy |
OMIM:301040 |
Primrose Syndrome |
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Delayed puberty, Tics, Hypergonadotropic hypogonadism, Hypothyroidism, Ataxia, Motor stereotypy, ... |
OMIM:259050 |
Norrie Disease |
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Delayed puberty, Irritability, Motor stereotypy, Attention deficit hyperactivity disorder, Self-i... |
ORPHA:649 |
Kinsship Syndrome |
|
Bruxism, Motor stereotypy |
OMIM:619297 |
Cornelia De Lange Syndrome 6 |
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Compulsive behaviors, Hair-pulling |
OMIM:620568 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Difficulty walking, Motor stereotypy |
OMIM:618653 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Loss of ambulation, Precocious puberty, Unsteady gait, Motor stereotypy |
OMIM:616682 |
Ogden Syndrome |
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Irritability, Maternal diabetes, Dysphagia, Motor stereotypy |
OMIM:300855 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Self-injurious behavior, Motor stereotypy |
ORPHA:468631 |
1P36 Deletion Syndrome |
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Polyphagia, Gait disturbance, Hypothyroidism, Dysphagia, Motor stereotypy, Hypogonadism, Self-inj... |
ORPHA:1606 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Motor stereotypy |
ORPHA:508498 |
Arboleda-Tham Syndrome |
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Gait imbalance, Dysphagia, Motor stereotypy |
OMIM:616268 |
Von Hippel-Lindau Disease |
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Pancreatic endocrine tumor, Adrenal pheochromocytoma, Pancreatic islet cell adenoma, Elevated cir... |
ORPHA:892 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Hyperactivity, Motor stereotypy |
OMIM:309590 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Attention deficit hyperactivity disorder, Dysphagia, Motor stereotypy |
OMIM:619522 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Motor stereotypy |
OMIM:301044 |
Coffin-Siris Syndrome 12 |
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Hypothyroidism, Motor stereotypy |
OMIM:619325 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Self-injurious behavior, Motor stereotypy |
OMIM:612474 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Motor stereotypy |
OMIM:194190 |
Lowe Oculocerebrorenal Syndrome |
|
Motor stereotypy, Aggressive behavior |
OMIM:309000 |
Mowat-Wilson Syndrome |
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Inability to walk, Broad-based gait, Impaired pain sensation, Ataxia, Reduced social reciprocity,... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Inability to walk, Broad-based gait, Impaired pain sensation, Dysphagia, Motor stereotypy, Bruxism |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Inability to walk, Broad-based gait, Impaired pain sensation, Dysphagia, Motor stereotypy, Bruxism |
ORPHA:261552 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
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Chorea |
OMIM:616939 |