Intellectual Developmental Disorder, Autosomal Recessive 37 |
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Hyperactivity, Bruxism |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Hyperactivity, Bruxism |
ORPHA:356996 |
Fraxe Intellectual Disability |
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Hyperactivity, Recurrent hand flapping, Agitation, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
Intellectual Developmental Disorder, X-Linked 109 |
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Hyperactivity, Recurrent hand flapping, Agitation, Impulsivity, Stereotypical body rocking |
OMIM:309548 |
Parasomnia, Sleep Bruxism Type |
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Bruxism |
OMIM:606840 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
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Hyperactivity, Repetitive compulsive behavior, Abnormal repetitive mannerisms, Compulsive behavio... |
ORPHA:352490 |
Foxg1 Syndrome |
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Inability to walk, Stereotypical hand wringing, Choreoathetosis, Abnormal repetitive mannerisms, ... |
ORPHA:561854 |
Behavioral Variant Of Frontotemporal Dementia |
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Gait disturbance, Abnormal repetitive mannerisms, Disinhibition, Restlessness, Collectionism |
ORPHA:275864 |
Primary Dystonia, Dyt13 Type |
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Abnormal repetitive mannerisms |
ORPHA:98807 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
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Difficulty walking, Abnormal repetitive mannerisms, Waddling gait |
ORPHA:280763 |
2Q23.1 Microdeletion Syndrome |
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Ataxia, Hyperactivity, Polyphagia, Abnormal repetitive mannerisms |
ORPHA:228402 |
Christianson Syndrome |
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Truncal ataxia, Gait ataxia, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:85278 |
Lamb-Shaffer Syndrome |
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Ataxia, Hyperactivity, Abnormal repetitive mannerisms |
ORPHA:530983 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Inability to walk, Abnormal repetitive mannerisms |
ORPHA:411986 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms |
ORPHA:313892 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Hyperactivity, Inability to walk, Gait disturbance, Ataxia, Abnormal repetitive mannerisms, Obses... |
ORPHA:168491 |
X-Linked Intellectual Disability, Cantagrel Type |
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Abnormal repetitive mannerisms |
ORPHA:85277 |
Alazami Syndrome |
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Abnormal eating behavior, Abnormal repetitive mannerisms, Stereotypical hand wringing |
ORPHA:319671 |
Rett Syndrome |
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Inability to walk, Stereotypical hand wringing, Gait disturbance, Agitation, Abnormal repetitive ... |
ORPHA:778 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms |
ORPHA:391307 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Loss of ambulation, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:79264 |
48,Xxyy Syndrome |
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Ataxia, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms |
ORPHA:10 |
Bilateral Generalized Polymicrogyria |
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Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
ORPHA:208447 |
Inverted Duplicated Chromosome 15 Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms |
ORPHA:3306 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
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Agitation, Ataxia, Abnormal repetitive mannerisms |
ORPHA:927 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
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Gait disturbance, Abnormal repetitive mannerisms |
ORPHA:457240 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
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Agitation, Recurrent hand flapping, Gait disturbance, Bruxism |
OMIM:617903 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Hyperactivity, Recurrent hand flapping, Attention deficit hyperactivity disorder, Abnormal repeti... |
ORPHA:449291 |
22Q11.2 Duplication Syndrome |
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Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1727 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
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Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
5Q14.3 Microdeletion Syndrome |
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Abnormal repetitive mannerisms |
ORPHA:228384 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
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Repetitive compulsive behavior, Attention deficit hyperactivity disorder |
ORPHA:391372 |
Optic Atrophy-Intellectual Disability Syndrome |
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Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors |
ORPHA:401777 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
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Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms |
ORPHA:98784 |
Childhood Disintegrative Disorder |
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Abnormal repetitive mannerisms |
ORPHA:168782 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Disinhibition, Repetitive compulsive behavior, Polyphagia, Agitation |
OMIM:607485 |
Cystinosis |
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Polydipsia, Gait disturbance, Abnormal repetitive mannerisms |
ORPHA:213 |
4Q21 Microdeletion Syndrome |
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Abnormal repetitive mannerisms |
ORPHA:238750 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
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Inability to walk, Repetitive compulsive behavior, Ataxia, Dysphagia, Bruxism |
OMIM:300260 |
Smith-Magenis Syndrome |
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Attention deficit hyperactivity disorder, Gait disturbance, Abnormal repetitive mannerisms |
ORPHA:819 |
Transketolase Deficiency |
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Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:488618 |
3P25.3 Microdeletion Syndrome |
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Ataxia, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms |
ORPHA:435638 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Abnormal repetitive mannerisms |
ORPHA:500159 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
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Abnormal repetitive mannerisms |
ORPHA:529965 |
2Q37 Microdeletion Syndrome |
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Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1001 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Gait ataxia, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive... |
ORPHA:476126 |
Childhood Absence Epilepsy |
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Attention deficit hyperactivity disorder, Punding |
ORPHA:64280 |
Macrocephaly-Developmental Delay Syndrome |
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Abnormal repetitive mannerisms |
ORPHA:397612 |
Proximal 16P11.2 Microdeletion Syndrome |
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Choreoathetosis, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms |
ORPHA:261197 |
Hydroxykynureninuria |
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Abnormal repetitive mannerisms |
ORPHA:79155 |
Megalocornea-Intellectual Disability Syndrome |
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Ataxia, Abnormal repetitive mannerisms |
ORPHA:2479 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Ataxia, Unsteady gait, Abnormal repetitive mannerisms |
ORPHA:457279 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
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Abnormal repetitive mannerisms |
ORPHA:261144 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Inability to walk, Spastic ataxia, Abnormal repetitive mannerisms |
ORPHA:300570 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Ataxia, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:496641 |
White-Sutton Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:468678 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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Inability to walk, Abnormal repetitive mannerisms |
ORPHA:457351 |
7Q11.23 Microduplication Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Dysmetria, Polyphagia, Unsteady gait, Collectionism |
ORPHA:96121 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Choreoathetosis, Ataxia, Repetitive compulsive behavior, Abnormal repetitive mannerisms |
ORPHA:522077 |
Prader-Willi Syndrome Due To Translocation |
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Attention deficit hyperactivity disorder, Head-banging, Abnormal repetitive mannerisms, Compulsiv... |
ORPHA:177907 |
Dilated Cardiomyopathy With Ataxia |
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Repetitive compulsive behavior, Ataxia |
ORPHA:66634 |
Wiedemann-Steiner Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:319182 |
Kleefstra Syndrome |
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Abnormal repetitive mannerisms |
ORPHA:261494 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Inability to walk, Abnormal repetitive mannerisms |
ORPHA:508533 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:447997 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Attention deficit hyperactivity disorder, Gait disturbance, Abnormal repetitive mannerisms |
ORPHA:464311 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Hyperactivity, Gait disturbance, Abnormal repetitive mannerisms |
ORPHA:464306 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Gait ataxia, Repetitive compulsive behavior, Abnormal repetitive mannerisms, Stereotypical body r... |
ORPHA:513456 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Hyperactivity, Tip-toe gait, Falls, Tics, Repetitive compulsive behavior, Agitation, Ataxia, Impu... |
OMIM:619475 |
Mucopolysaccharidosis Type 2 |
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Hyperactivity, Impulsivity, Abnormal repetitive mannerisms |
ORPHA:580 |
Oculocerebrorenal Syndrome Of Lowe |
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Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:534 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Abnormal repetitive mannerisms |
ORPHA:468631 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Abnormal repetitive mannerisms |
ORPHA:508498 |
Tuberous Sclerosis Complex |
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Impulsivity, Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Hyperactivity |
ORPHA:805 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Impulsivity, Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:353281 |
1P36 Deletion Syndrome |
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Polyphagia, Gait disturbance, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:1606 |
Nmda Receptor Encephalitis |
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Agitation, Choreoathetosis, Abnormal repetitive mannerisms |
ORPHA:217253 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Impulsivity, Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Impulsivity, Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:353277 |
Norrie Disease |
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Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms |
ORPHA:649 |
Mowat-Wilson Syndrome |
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Inability to walk, Ataxia, Abnormal repetitive mannerisms, Dysphagia, Broad-based gait, Bruxism |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Inability to walk, Abnormal repetitive mannerisms, Dysphagia, Broad-based gait, Bruxism |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Inability to walk, Abnormal repetitive mannerisms, Dysphagia, Broad-based gait, Bruxism |
ORPHA:261552 |