Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Chorea, Benign Hereditary |
|
Chorea, Frequent falls, Gait disturbance |
OMIM:118700 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements, Chorea, Involuntary movements |
OMIM:616939 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Vertigo, Ataxia, Torticollis |
ORPHA:71518 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa... |
ORPHA:98810 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus |
OMIM:125370 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behav... |
ORPHA:382 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Involuntary movements, Paroxysmal dyskinesia |
OMIM:611031 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Upper motor neuron dysfunction |
ORPHA:401901 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:606053 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Multiple joint contractures, Sensorineural hearing impairment, Vestibular areflexia, Dysmetria, G... |
ORPHA:504476 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements |
OMIM:618425 |
Spinocerebellar Ataxia 6 |
|
Ataxia, Vertigo, Dysmetria, Dysphagia, Progressive cerebellar ataxia, Truncal ataxia, Loss of amb... |
OMIM:183086 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... |
ORPHA:251282 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... |
OMIM:608636 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Choreoathetosis, Paresthesia, Parox... |
ORPHA:98811 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... |
OMIM:500003 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
Huntington Disease-Like 2 |
|
Chorea, Involuntary movements, Gait disturbance, Parkinsonism |
ORPHA:98934 |
Nystagmus, Hereditary Vertical |
|
Abnormal vestibulo-ocular reflex, Ataxia |
OMIM:164150 |
Developmental And Epileptic Encephalopathy 37 |
|
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M... |
OMIM:616981 |
3-Methylglutaconic Aciduria, Type Iii |
|
Ataxia, Chorea, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity |
OMIM:258501 |
Striatal Degeneration, Autosomal Dominant 2 |
|
Chorea, Parkinsonism |
OMIM:616922 |
Choreoathetosis, Familial Inverted |
|
Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign, Gait disturbance |
OMIM:118750 |
Huntington Disease-Like 1 |
|
Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria |
OMIM:603218 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Incoordination, Ataxia, Vertigo, Frequent falls |
ORPHA:79136 |
Childhood-Onset Benign Chorea With Striatal Involvement |
|
Chorea, Parkinsonism with favorable response to dopaminergic medication |
ORPHA:494541 |
Friedreich Ataxia |
|
Inability to walk, Chorea, Impaired proprioception, Dysmetria, Gait ataxia, Limb ataxia, Dysphagi... |
ORPHA:95 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Chorea, Gait disturbance |
OMIM:607674 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Paroxysmal Kinesigenic Dyskinesia |
|
Athetosis, Chorea, Involuntary movements |
ORPHA:98809 |
Deafness, Autosomal Recessive 103 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia |
OMIM:616042 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Inguinal hernia, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal... |
OMIM:614063 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia |
OMIM:618501 |
Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Paroxysmal dyskinesia |
ORPHA:31709 |
Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Chorea |
OMIM:601372 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Dysphagia, Abn... |
ORPHA:247234 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Clumsiness, Gait disturbance, Sp... |
ORPHA:216873 |
Spinocerebellar Ataxia 27A |
|
Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abnormal vestibulo-ocula... |
OMIM:193003 |
Usher Syndrome, Type Ie |
|
Congenital sensorineural hearing impairment, Vestibular areflexia |
OMIM:602097 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Chorea, Poor coordination, Falls, Paroxysmal dyskinesia |
OMIM:619150 |
Huntington Disease-Like 3 |
|
Abnormal head movements, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormal pyr... |
ORPHA:157946 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Br... |
OMIM:607136 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior |
OMIM:239500 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... |
OMIM:618317 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Chorea, Ataxia |
OMIM:618683 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Limb hypertonia |
ORPHA:324588 |
Vestibulocochlear Dysfunction, Progressive |
|
Vestibular areflexia, Tinnitus, Progressive hearing impairment |
OMIM:193005 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements |
OMIM:620245 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia |
OMIM:618093 |
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Sensorineural hearing impairment, Vestibular areflexia |
OMIM:609006 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Postural tremor, Parkinsonism, Chorea, Vertigo, Hand tremor, Athetosis |
OMIM:615483 |
Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Chorea |
OMIM:614055 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Positive Romberg sign |
OMIM:614575 |
Huntington Disease |
|
Rigidity, Chorea, Bradykinesia, Gait ataxia |
OMIM:143100 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Chorea |
OMIM:618760 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia... |
ORPHA:98756 |
Huntington Disease-Like 1 |
|
Abnormal head movements, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria... |
ORPHA:157941 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata... |
ORPHA:248111 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ataxia, Action myoclonus |
OMIM:616230 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Failure to thrive, Posteriorly rotated ears, Small for gestational age, Aggressive... |
OMIM:609425 |
Cataract 11, Multiple Types |
|
Chorea, Hypertonia |
OMIM:610623 |
Developmental And Epileptic Encephalopathy 17 |
|
Inability to walk, Athetosis, Chorea |
OMIM:615473 |
Sydenham Chorea |
|
Chorea, Unsteady gait, Hemiballismus |
ORPHA:306731 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... |
OMIM:613135 |
Pontocerebellar Hypoplasia, Type 2C |
|
Chorea |
OMIM:612390 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms |
OMIM:617862 |
Pontocerebellar Hypoplasia, Type 2D |
|
Appendicular spasticity, Chorea, Clonus, Spastic tetraplegia |
OMIM:613811 |
Gordon Holmes Syndrome |
|
Chorea, Ataxia |
OMIM:212840 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Dy... |
OMIM:604391 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl... |
ORPHA:79263 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Progressive extrapyram... |
ORPHA:401768 |
Schimke X-Linked Mental Retardation Syndrome |
|
Choreoathetosis, Spasticity, Hearing impairment |
OMIM:312840 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... |
ORPHA:247815 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Jerky head movements |
OMIM:245348 |
Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Involuntary movements, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal si... |
ORPHA:98759 |
Hartnup Disorder |
|
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal sign, Abnormality o... |
OMIM:617672 |
Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Chorea, Cerebral palsy, Spasticity |
OMIM:618557 |
Huntington Disease-Like 3 |
|
Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Abnormality of extrapyramidal motor funct... |
OMIM:604802 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Hyperk... |
ORPHA:13 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior |
OMIM:619470 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Difficulty walking, ... |
ORPHA:53351 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:617830 |
Alternating Hemiplegia Of Childhood 2 |
|
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Hemiplegia |
OMIM:614820 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Oculomotor apraxia, Freque... |
ORPHA:251347 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, Distal sen... |
OMIM:208920 |
Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Recurrent hand flapping, Self-biting |
OMIM:300624 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Choreoathetosis, Athetosis, Chorea |
OMIM:309541 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis |
OMIM:104290 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia |
ORPHA:3240 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Chorea, Slurred speech, Impaired proprioception, Dysmetria, Bradykinesia, Progre... |
ORPHA:98755 |
Developmental And Epileptic Encephalopathy 27 |
|
Chorea, Myoclonus, Spasticity |
OMIM:616139 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Impaired pain sensation, Inability to walk, Chorea, Abnormal pyramidal sign, Gait ataxia, Abnorma... |
ORPHA:500180 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Episodic ataxia, Parox... |
ORPHA:53583 |
Basal Ganglia Calcification, Idiopathic, 6 |
|
Choreoathetosis, Involuntary movements, Parkinsonism |
OMIM:616413 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Action tremor |
OMIM:619738 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto... |
OMIM:617282 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Chorea, Paroxysmal dyskinesia |
ORPHA:79137 |
Spinocerebellar Ataxia 47 |
|
Ataxia, Chorea, Dysmetria, Low-set ears, Spasticity |
OMIM:617931 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus |
OMIM:619317 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Spasticity |
OMIM:617493 |
Huntington Disease |
|
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br... |
ORPHA:399 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Inability to walk, Chorea, Hyperkinetic movements, Myoclonus, Spasticity |
OMIM:614254 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Bradykinesia, Action tremor |
OMIM:606438 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Torticollis, Paroxysmal choreoathetosis |
OMIM:118800 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Low-set ears, Spasticity |
OMIM:618451 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
Infantile Dystonia-Parkinsonism |
|
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp... |
ORPHA:238455 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Progressive sensorineural hear... |
OMIM:301020 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Dystonia 9 |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Episodic ataxia |
OMIM:601042 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Usher Syndrome |
|
Abnormal vestibular function, Ataxia, Abnormal dental enamel morphology, Sensorineural hearing im... |
ORPHA:886 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Intenti... |
OMIM:619725 |
Folinic Acid-Responsive Seizures |
|
Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Sensorineural hearing impairment, Hyperto... |
ORPHA:79097 |
Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal choreoathetosis |
OMIM:128200 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Gait disturbance, Abnor... |
OMIM:600795 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... |
OMIM:606159 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior |
OMIM:620270 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Loss of ambulation, Spa... |
OMIM:618088 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... |
OMIM:618718 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617820 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil... |
OMIM:607483 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Lower limb spasticity, Ataxia, Clonus, Parkinsonism, Head titubation, Inability to walk, Chorea, ... |
ORPHA:300605 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal r... |
OMIM:618917 |
Myoclonus, Intractable, Neonatal |
|
Athetosis, Chorea, Myoclonus |
OMIM:617235 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Decreased body weight, Ataxia, Inability to walk, Limb ataxia, Self-injurious b... |
OMIM:617695 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
Sneddon Syndrome |
|
Tremor, Chorea, Vertigo, Hemiparesis |
ORPHA:820 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... |
OMIM:604290 |
Spastic Paraplegia 86, Autosomal Recessive |
|
Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis |
OMIM:619735 |
Birk-Aharoni Syndrome |
|
Inability to walk, Chorea, Spastic tetraplegia, Hearing impairment |
OMIM:620071 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Athetosis, Chorea, Spastic tetraplegia |
OMIM:619922 |
Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Spasticity |
OMIM:271930 |
Spinocerebellar Ataxia 1 |
|
Impaired vibratory sensation, Impaired pain sensation, Chorea, Babinski sign, Impaired propriocep... |
OMIM:164400 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Early-Onset X-Linked Optic Atrophy |
|
Babinski sign, Gait ataxia, Choreoathetosis, Dysdiadochokinesis, Intention tremor |
ORPHA:98890 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig... |
ORPHA:225154 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Chorea, Unsteady gait, Progressive cerebellar ataxia, Upper limb spasticit... |
ORPHA:485350 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Abnormal pinna morphology, Ataxia, Small for gestational age, Failure to thrive in... |
OMIM:614104 |
Distal Deletion 3P |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Umbilical hernia, Abnormal vestibulo-ocular r... |
ORPHA:1620 |
Baker-Gordon Syndrome |
|
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Dystonia, Abnormal repetitiv... |
OMIM:618218 |
Christianson Syndrome |
|
Cachexia, Truncal ataxia, Dysphagia, Gait ataxia, Inappropriate laughter, Dystonia, Arthrogryposi... |
ORPHA:85278 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Spastic paraparesis, Hear... |
ORPHA:391417 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Gait ... |
ORPHA:225147 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Joint contracture, Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking |
OMIM:617393 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:612716 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Hypertonia, Choreoathetosis, Myoclonus |
OMIM:261630 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Foxg1 Syndrome |
|
Inability to walk, Bruxism, Choreoathetosis, Difficulty walking, Dystonia, Decreased body weight,... |
ORPHA:561854 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Chorea, Hemiballismus, Spastic tetraparesis |
OMIM:618567 |
Leukodystrophy, Hypomyelinating, 16 |
|
Broad-based gait, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Choreoathetosis, Hypertonia, S... |
OMIM:617964 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Inability to walk, Chorea, Ataxia, Spasticity |
ORPHA:70472 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Developmental And Epileptic Encephalopathy 40 |
|
Choreoathetosis, Spasticity, Myoclonus, Spastic tetraparesis |
OMIM:617065 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreoathetosis,... |
OMIM:618877 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Tremor, Unsteady gait, Dysphagia, Agitation, Bruxism, Abnormal repetitive mannerisms |
OMIM:617435 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... |
OMIM:301029 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Hyperkinetic movements, Difficulty walking, Truncal ataxia |
ORPHA:369847 |
Developmental And Epileptic Encephalopathy 110 |
|
Pain insensitivity, Chorea, Low-set ears, Spasticity, Macrotia |
OMIM:620149 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality of extrapyramidal motor ... |
OMIM:615673 |
Xq28 (MECP2) duplication |
|
Failure to thrive, Inability to walk, Gait ataxia, Dysphagia, Macrotia, Abnormal repetitive manne... |
DECIPHER:45 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Low-set ears, Overfol... |
OMIM:619092 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Hyperactivity, Small for gestational age, Abnormal repetitive mannerisms, Repeti... |
ORPHA:352490 |
Mepan Syndrome |
|
Ataxia, Chorea, Gait disturbance, Myoclonus, Spasticity |
ORPHA:508093 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Oculorenocerebellar Syndrome |
|
Choreoathetosis, Spastic diplegia |
OMIM:257970 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Babinski sign, Choreoathetosis, Frequent falls |
OMIM:619054 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Choreoathetosis, Hemiplegia/hemiparesis, Chorea |
ORPHA:289916 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Choreoathetosis, Spasticity |
OMIM:614249 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Inability to walk, Chorea, Spastic tetraplegia, Hypertonia, Spastic... |
OMIM:617864 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Conductive hearing impairment |
OMIM:618497 |
Pontocerebellar Hypoplasia, Type 8 |
|
Posteriorly rotated ears, Involuntary movements, Chorea, Gait ataxia, Hypertonia, Low-set ears, S... |
OMIM:614961 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairment, Protruding ear, Low... |
OMIM:618342 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia |
OMIM:615924 |
Leukodystrophy, Hypomyelinating, 4 |
|
Head titubation, Babinski sign, Spastic paraplegia, Choreoathetosis, Progressive spasticity |
OMIM:612233 |
Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Myoclonus, Hearing impairment |
OMIM:609056 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep... |
OMIM:606002 |
Childhood Absence Epilepsy |
|
Punding, Jerky head movements, Attention deficit hyperactivity disorder |
ORPHA:64280 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Overweight, Difficulty walking, Dystonia, Abnormal repetitive mannerisms |
ORPHA:280763 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Chorea, Spasticity |
OMIM:613970 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Chorea, Difficulty walking, Truncal ataxia |
ORPHA:369840 |
Developmental And Epileptic Encephalopathy 64 |
|
Inability to walk, Chorea, Hemiparesis, Macrotia, Limb hypertonia |
OMIM:618004 |
D-Glyceric Aciduria |
|
Chorea, Myoclonus, Spasticity, Hearing impairment |
ORPHA:941 |
Jeavons Syndrome |
|
Limb myoclonus, Abnormal head movements |
ORPHA:139431 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Pain insensitivity, Ataxia, Rigidity, Inability to walk, Chorea, Progressi... |
OMIM:300260 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:619690 |
Neuroferritinopathy |
|
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk... |
ORPHA:157846 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Chorea, Babinski sign, Ataxia |
OMIM:604168 |
Metachromatic Leukodystrophy |
|
Ataxia, Chorea, Babinski sign, Spastic tetraplegia, Tetraplegia, Gait disturbance |
OMIM:250100 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma... |
OMIM:617600 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Choreoathetosis, Spasticity |
OMIM:308950 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Leukodystrophy, Hypomyelinating, 2 |
|
Ataxia, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Progressive spasticity, Spasti... |
OMIM:608804 |
Ogden Syndrome |
|
Abnormal head movements, Torticollis, Hypertonia, Shuffling gait, Low-set ears, Macrotia |
ORPHA:276432 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... |
ORPHA:228402 |
Nasu-Hakola Disease |
|
Oculomotor apraxia, Chorea, Spasticity |
ORPHA:2770 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Chromosome 2Q37 Deletion Syndrome |
|
Pain insensitivity, Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Obesity... |
OMIM:600430 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Hypertonia, Spas... |
OMIM:610217 |
Pontocerebellar Hypoplasia, Type 2B |
|
Clonus, Chorea, Babinski sign, Opisthotonus, Extrapyramidal dyskinesia, Spasticity, Limb hypertonia |
OMIM:612389 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Parkinsonism, Spastic tetraparesis, Inability to walk, Opisthotonus, Choreoathetosis, Apraxia, Sp... |
OMIM:619653 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Lim... |
ORPHA:48818 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spastic tetraple... |
OMIM:300055 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Gait imbalance, In... |
ORPHA:411511 |
Smith-Magenis Syndrome |
|
Hyperactivity, Impaired pain sensation, Abnormality of the outer ear, Self hugging, Head-banging,... |
OMIM:182290 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Limb hypertonia |
OMIM:261640 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... |
OMIM:610042 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Ataxia, Involuntary movements, Choreoathetosis, Spasticity, Limb hypertonia |
OMIM:615905 |
Systemic Lupus Erythematosus 17 |
|
Chorea |
OMIM:301080 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, P... |
ORPHA:206594 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Chorea, Hypertonia, Ataxia |
ORPHA:52503 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Posteriorly rotated ears, Chorea, Protruding ear, Hemiparesis, Microtia, Low-set ears |
OMIM:618829 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... |
OMIM:618825 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Overweight, Gait disturbance, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
ORPHA:457240 |
Developmental And Epileptic Encephalopathy 84 |
|
Chorea, Babinski sign, Opisthotonus, Large earlobe, Spasticity |
OMIM:618792 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, S... |
ORPHA:3077 |
Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, Choreoathetosis |
OMIM:612126 |
Metachromatic Leukodystrophy, Adult Form |
|
Chorea, Babinski sign, Clumsiness, Progressive spastic quadriplegia, Progressive gait ataxia, Dec... |
ORPHA:309271 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... |
ORPHA:228360 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Waddling gait, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hyperkinetic... |
OMIM:615356 |
Pandas |
|
Chorea, Clumsiness |
ORPHA:66624 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Chorea |
OMIM:616744 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Ataxia, Involuntary movements, Posteriorly rotated ears, Prominent crus of helix, Inability to wa... |
OMIM:617804 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... |
ORPHA:64753 |
Snijders Blok-Fisher Syndrome |
|
Cupped ear, Protruding ear, Choreoathetosis, Opisthotonus, Spasticity |
OMIM:618604 |
Gm2 Gangliosidosis, Ab Variant |
|
Progressive spastic quadriplegia, Chorea, Abnormal pyramidal sign, Exaggerated startle response |
ORPHA:309246 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore... |
OMIM:619580 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620292 |
Kleine-Levin Syndrome |
|
Fever, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, A... |
ORPHA:33543 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Limb hypertonia |
OMIM:233910 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes... |
ORPHA:98794 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Limb dystonia,... |
ORPHA:93958 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Chorea, Opisthotonus, Myoclonus, Tetraparesis, Hearing impairment |
OMIM:616672 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior, Obesity, Compulsive behavio... |
OMIM:618430 |
Episodic Ataxia Type 1 |
|
Vertigo, Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait, Hypertonia |
ORPHA:37612 |
Rheumatic Fever |
|
Hemiballismus, Chorea, Gait disturbance, Fasciculations |
ORPHA:3099 |
Ritscher-Schinzel Syndrome 4 |
|
Athetosis, Chorea, Macrotia, Ataxia |
OMIM:619435 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Ataxia, Hearing impairment, Tremor, Head titubation, Inability to walk, Spastic... |
OMIM:312080 |
Brain-Lung-Thyroid Syndrome |
|
Incoordination, Ataxia, Involuntary movements, Chorea, Sensorineural hearing impairment, Clumsine... |
ORPHA:209905 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, Abnormal repeti... |
OMIM:617807 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Failure to thrive, Abnormal ... |
OMIM:610883 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Abnormal temper tantrums |
ORPHA:530983 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Poor motor coordination, Ataxia, Tremor, Rigidity, Chorea, Vertigo, Athetosis |
ORPHA:25 |
Developmental And Epileptic Encephalopathy 29 |
|
Blepharospasm, Chorea, Spasticity |
OMIM:616339 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Macrotia, Abnormal repetitive mannerisms, Hearing impairment |
OMIM:619877 |
Hsd10 Mitochondrial Disease |
|
Choreoathetosis, Spasticity, Spastic tetraplegia, Sensorineural hearing impairment |
OMIM:300438 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Choreoathetosis, Frequent falls, Ataxia |
OMIM:618416 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus, Bilateral sensorineural hearing impa... |
OMIM:618321 |
Rett Syndrome |
|
Inability to walk, Gait disturbance, Agitation, Difficulty walking, Dystonia, Failure to thrive, ... |
ORPHA:778 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod... |
OMIM:617865 |
Cimdag Syndrome |
|
Chorea, Ataxia, Spasticity, Sensorineural hearing impairment |
OMIM:619273 |
Pontocerebellar Hypoplasia, Type 2A |
|
Chorea, Extrapyramidal dyskinesia, Opisthotonus |
OMIM:277470 |
48,Xxyy Syndrome |
|
Inguinal hernia, Ataxia, Abnormal dental enamel morphology, Tremor, Obesity, Attention deficit hy... |
ORPHA:10 |
Cri-Du-Chat Syndrome |
|
Overfriendliness, Inguinal hernia, Hyperactivity, Abnormal pinna morphology, Small for gestationa... |
OMIM:123450 |
Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms, Gait disturbance |
OMIM:301094 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... |
OMIM:619121 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compul... |
OMIM:300986 |
New-Onset Refractory Status Epilepticus |
|
Fever, Abnormal head movements |
ORPHA:363558 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Obesity, Large earlobe, Gait imbalance, Low-set... |
OMIM:619312 |
Chromosome 18Q Deletion Syndrome |
|
Broad-based gait, Tremor, Chorea, Poor coordination, Sensorineural hearing impairment, Atresia of... |
OMIM:601808 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Prominent ear helix, Abnormal repetitive mannerisms, Large earlobe |
ORPHA:411986 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Abnormal repetitive mannerisms, Low-set ears |
OMIM:613443 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Small for gestational age, Asymmetry of the ears, Overweight, Sensorineural hearin... |
OMIM:617796 |
Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Inguinal hernia, Unsteady gait, Low-set ears, Attention deficit hyperactivity d... |
OMIM:618205 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypica... |
OMIM:300912 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Spast... |
ORPHA:765 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Sensorineural hearing impairment, Obesity, Choreoathetosis, Atte... |
ORPHA:261197 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
ORPHA:313892 |
Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... |
OMIM:617808 |
4Q21 Microdeletion Syndrome |
|
Tremor, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, Hearing impairment |
ORPHA:238750 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Leigh Syndrome |
|
Ataxia, Involuntary movements, Chorea, Sensorineural hearing impairment, Spastic diplegia, Choreo... |
ORPHA:506 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Abnormal repetitive mannerisms, Bruxism, Hearing impairment |
OMIM:616351 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Hernia, Abnor... |
ORPHA:3306 |
Bilateral Generalized Polymicrogyria |
|
Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit... |
ORPHA:208447 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Ankle flexion contracture, Inability to walk, Bilateral conductive hearing impairment, Low-set ea... |
OMIM:617802 |
Rett Syndrome, Congenital Variant |
|
Chorea, Protruding ear, Athetosis, Apraxia, Spasticity |
OMIM:613454 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Recurrent hand flapping, Agitation, Gait disturbance, Bruxism |
OMIM:617903 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Choreoathetosis, Hearing impairment, Limb hypertonia |
OMIM:618247 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Intermittent hypothermia, Oculogyric crisis, Tongue th... |
OMIM:608643 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D... |
OMIM:617061 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Abnormal repetitive mannerisms, Failure to thrive, Agitation, Ataxia |
ORPHA:927 |
Alazami Syndrome |
|
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... |
ORPHA:319671 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... |
OMIM:618027 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ... |
ORPHA:2131 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Impaired pain sensation, Gait ataxia, Low-set ears, Umbilical hernia, Abnormal repetitive manneri... |
OMIM:616579 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Inguinal hernia, Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Joint con... |
OMIM:618914 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Obsessive-compul... |
ORPHA:168491 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Loss of ambulation, Non-periodic recurrent fever, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:79264 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Aggressive behavior, Underfolded superior helices, Gait disturbance, Attention ... |
OMIM:300352 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantrums, Attention ... |
ORPHA:449291 |
Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body weight |
OMIM:618347 |
Sandifer Syndrome |
|
Abnormal head movements, Torticollis, Hiatus hernia |
ORPHA:71272 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Umbilical ... |
OMIM:617751 |
Alexander Disease |
|
Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Gait disturbance, Spasticity |
ORPHA:58 |
Cystinosis |
|
Fever, Gait disturbance, Polydipsia, Failure to thrive, Abnormal repetitive mannerisms |
ORPHA:213 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Impaired pain sensation, Aggressive behavior, Heat intolerance, Unsteady gait, ... |
OMIM:606232 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Inability to walk, Chorea, Tip-toe gait |
ORPHA:268 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cho... |
OMIM:617988 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Gait disturbance, Disinhibition,... |
ORPHA:43 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620242 |
Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Small for gestational age, Self-injurious behavior, Compulsive behavior... |
OMIM:613174 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, Spastic paraplegia, Choreoathetosis, Spastic tetraplegia |
OMIM:612164 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m... |
ORPHA:500159 |
White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Posteriorly rotated ears, Congenital diaphragmatic hernia, Aggressi... |
OMIM:616364 |
Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Impaired pain sensation, Obesity, Self-injurious behavior, Gait dis... |
ORPHA:819 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Choreoathetosis, Gait disturbance, Spasticity, Hearing impairment |
ORPHA:702 |
Den Hoed-De Boer-Voisin Syndrome |
|
Posteriorly rotated ears, Ataxia, Tremor, Inability to walk, Overweight, Obesity, Agitation, Dysp... |
OMIM:619229 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Truncal ataxia, Hearin... |
OMIM:618249 |
Choreoacanthocytosis |
|
Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta... |
ORPHA:2388 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Athetoid cerebral palsy |
ORPHA:522077 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnorm... |
OMIM:616393 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Abnormal repetitive mannerisms |
OMIM:618067 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Head tremor |
OMIM:619428 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Spastic paraplegia, Opisthotonus, Choreoathetosis, Hypertonia, Tongue fasciculations, Myo... |
OMIM:614969 |
Niemann-Pick Disease Type C |
|
Speech apraxia, Lower limb spasticity, Ataxia, Hearing impairment, Tremor, Chorea, Abnormal pyram... |
ORPHA:646 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Failure to thrive, Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairmen... |
OMIM:212066 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Choreoathetosis, Paraparesis, Ataxia, Tetraparesis |
ORPHA:27 |
Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements, ... |
OMIM:615273 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Mcleod Syndrome |
|
Chorea, Impaired vibration sensation at ankles |
OMIM:300842 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:228384 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Elbow contracture, Compulsive behaviors, Attention deficit hyperactivity disorder, Joint ... |
OMIM:615656 |
3P25.3 Microdeletion Syndrome |
|
Ataxia, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Knee flexion contractur... |
ORPHA:435638 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity d... |
ORPHA:476126 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Posteriorly rotated ears, Flexion contracture, Low-set ears, Attention deficit hyperactivity diso... |
OMIM:619293 |
22Q11.2 Duplication Syndrome |
|
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... |
ORPHA:1727 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Fa... |
OMIM:619695 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Chorea, Sensorineural hearing impairment, Gait ataxia, Hypertonia, Spasticity |
ORPHA:255210 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:397612 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Contracture of the proximal interphalangeal joint of ... |
ORPHA:457279 |
Kleefstra Syndrome 1 |
|
Abnormal pinna morphology, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitiv... |
OMIM:610253 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Developmental And Epileptic Encephalopathy 100 |
|
Choreoathetosis, Chorea, Myoclonus, Gait ataxia |
OMIM:619777 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:98784 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Inability to walk, Chorea, Athetosis, Hyperkinetic movements, Myoclonus, Oculomotor apraxia, Acti... |
ORPHA:404454 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Failure to thrive, Prominent antihelix, Inappropriate laughter, Enamel hypoplasia, Macrotia, Abno... |
OMIM:615802 |
2Q37 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Obesity, Compulsive behaviors, Attention deficit hyperactivity d... |
ORPHA:1001 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Megalocornea-Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, Sensorineural hearing impairment, Ataxia, Protruding ear |
ORPHA:2479 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Protruding ear, Tics, Otitis media, Compulsive behaviors, Decreased body weight, Abnormal repetit... |
OMIM:619475 |
White-Sutton Syndrome |
|
Ventral hernia, Inguinal hernia, Hyperactivity, Posteriorly rotated ears, Congenital diaphragmati... |
ORPHA:468678 |
7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Collectionism, Hyperactivity, Congenital diap... |
ORPHA:96121 |
3-Methylglutaconic Aciduria Type 7 |
|
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Hypertonia, Abnormality of ex... |
ORPHA:445038 |
Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms, Ataxia |
OMIM:610688 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Overweight, Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set ears... |
OMIM:619575 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Sensorineural hearing impairment, Self-injurious behavior, Limb dystonia, Abno... |
ORPHA:457351 |
Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms |
ORPHA:79155 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Spastic diplegia, Choreoathetosis, Large earlobe, Spasticity, Macrotia |
ORPHA:2715 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Inability to walk, Sensorineural hearing impairment, Bilateral senso... |
ORPHA:300570 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Ataxia, Dysphagia, Dystonia, Arthrogryposis multiplex congenita, Macrotia, Abnormal repetitive ma... |
ORPHA:496641 |
Spondyloenchondrodysplasia |
|
Chorea, Spasticity |
ORPHA:1855 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism... |
OMIM:619103 |
Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
ORPHA:488618 |
Catastrophic Antiphospholipid Syndrome |
|
Chorea |
ORPHA:464343 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Broad-based gait, Ataxia, Choreoathetosis, Difficulty walking, Cholesteatoma |
OMIM:610978 |
Xeroderma Pigmentosum, Complementation Group A |
|
Ataxia, Sensorineural hearing impairment, Distal sensory impairment, Choreoathetosis, Spasticity |
OMIM:278700 |
Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:617682 |
Kleefstra Syndrome |
|
Aggressive behavior, Self-mutilation, Obesity, Self-injurious behavior, Hernia, Thickened helices... |
ORPHA:261494 |
Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Repetitive compulsive behavior, Bilateral sensorineural hearing impairment, Dystonia, Act... |
ORPHA:66634 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:234200 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear |
ORPHA:261144 |
Galloway-Mowat Syndrome 9 |
|
Choreoathetosis, Macrotia, Low-set ears |
OMIM:619603 |
Bainbridge-Ropers Syndrome |
|
Failure to thrive, Posteriorly rotated ears, Inability to walk, Contracture of the proximal inter... |
OMIM:615485 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Overfolded helix, Dysmetr... |
OMIM:617330 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Clonus, Hair-pulling, Protruding ear, Hypertonia, Myoclonic spasms, Low-se... |
ORPHA:447997 |
Niemann-Pick Disease, Type C2 |
|
Abnormal repetitive mannerisms, Ataxia, Dysphagia, Dystonia |
OMIM:607625 |
Holoprosencephaly |
|
External ear malformation, Chorea, Abnormal antihelix morphology, Spasticity, Macrotia |
ORPHA:2162 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Slurred speech, Choreoathetosis, Tip-toe gait, Abnormality of extrapyrami... |
ORPHA:157850 |
Nmda Receptor Encephalitis |
|
Involuntary movements, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Myoclonus |
ORPHA:217253 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Jerky head movements, Obesity, Low-set ears, Hearing impairment |
ORPHA:369837 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Broad-based gait, Hyperactivity, Posteriorly rotated ears, Ataxia, Hiatus hernia, Aggr... |
OMIM:614756 |
Neuroleptic Malignant Syndrome |
|
Tremor, Chorea, Extrapyramidal muscular rigidity |
ORPHA:94093 |
Pitt-Hopkins Syndrome |
|
Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Abnormal repetitive mannerisms |
OMIM:610954 |
Xeroderma Pigmentosum, Complementation Group D |
|
Choreoathetosis, Spasticity, Ataxia, Sensorineural hearing impairment |
OMIM:278730 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Failure to thrive, Posteriorly rotated ears, Sensorineural hearing impairment, Sel... |
OMIM:619512 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... |
OMIM:208900 |
Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:300672 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Gait ataxi... |
ORPHA:513456 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Sensorineural hearing impairment, Babinski sign, Scissor gait, Choreoathetosis, Hypertoni... |
OMIM:278800 |
Menkes Disease |
|
Chorea, Hypertonia, Spasticity |
ORPHA:565 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Ataxia |
OMIM:620047 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Small for gestational age, Ankle flexion contracture, Protruding ear, Gait dis... |
ORPHA:464311 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, Attention deficit hyperactivity disorder, Decreased body weight, Abnorma... |
OMIM:619005 |
Lesch-Nyhan Syndrome |
|
Choreoathetosis, Spasticity, Abnormality of extrapyramidal motor function, Opisthotonus |
OMIM:300322 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Aggressive behavior,... |
OMIM:620330 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Obesity, Difficulty walking, Low-set ears, Overfolded helix, Abnormal repetitive... |
OMIM:618653 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Failure to thrive, Abnormal repetiti... |
ORPHA:319182 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Multiple joint contractures, Failure to thrive, Small for gestational age, Protrud... |
ORPHA:464306 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Low-set ears, Umbilical her... |
OMIM:301040 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Multiple joint contractures, Camptodactyly of finger, Ankle fl... |
ORPHA:468631 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Abnormal repetitive mannerisms, Cupped ear, Bruxism, Dys... |
OMIM:615873 |
Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Inguinal hernia, Hyperactivity, Impulsivity, Aggressive behavior, Sensorineural hea... |
ORPHA:580 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Posteriorly rotated ears, Aggressive behavior, Obesity, Recurrent otitis media, Umbilical hernia,... |
OMIM:301066 |
Prader-Willi Syndrome Due To Translocation |
|
Obesity, Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention de... |
ORPHA:177907 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Posteriorly rotated ears, Small for gestational age, Cupped ear, Flexion contractu... |
OMIM:309590 |
Kinsship Syndrome |
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Failure to thrive, Abnormal repetitive mannerisms, Low-set ears, Bruxism |
OMIM:619297 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Inability to walk, Abnormal repetitive mannerisms, Elbow flexion contracture, Opisthotonus |
ORPHA:508533 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353281 |
Arboleda-Tham Syndrome |
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Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Dysphagia, Prominent a... |
OMIM:616268 |
1P36 Deletion Syndrome |
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Low-set, posteriorly rotated ears, Camptodactyly of finger, Sensorineural hearing impairment, Pol... |
ORPHA:1606 |
Primary Sjögren Syndrome |
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Chorea, Somatic sensory dysfunction |
ORPHA:289390 |
Systemic Lupus Erythematosus |
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Chorea |
ORPHA:536 |
Van Esch-O'Driscoll Syndrome |
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Impulsivity, Protruding ear, Microtia, Attention deficit hyperactivity disorder, Abnormal repetit... |
OMIM:301030 |
Brucellosis |
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Chorea |
ORPHA:1304 |
Oculocerebrorenal Syndrome Of Lowe |
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Low-set, posteriorly rotated ears, Inguinal hernia, Abnormal dental enamel morphology, Protruding... |
ORPHA:534 |
Norrie Disease |
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Failure to thrive, Cachexia, Sensorineural hearing impairment, Protruding ear, Abnormal cochlea m... |
ORPHA:649 |
Primrose Syndrome |
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Hip contracture, Restlessness, Calcification of the auricular cartilage, Ataxia, Aggressive behav... |
OMIM:259050 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Tremor, Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Truncal obesit... |
OMIM:612474 |
Ogden Syndrome |
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Torticollis, Inguinal hernia, Dysphagia, Protruding ear, Low-set ears, Minimal subcutaneous fat, ... |
OMIM:300855 |
Monosomy 22Q13.3 |
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Hair-pulling, Macrotia, Hearing impairment, Impaired pain sensation |
ORPHA:48652 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353277 |
Coffin-Siris Syndrome 12 |
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Overfolding of the superior helices, Posteriorly rotated ears, Sensorineural hearing impairment, ... |
OMIM:619325 |
Woodhouse-Sakati Syndrome |
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Sensorineural hearing impairment, Protruding ear, Choreoathetosis, Abnormality of extrapyramidal ... |
OMIM:241080 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms |
OMIM:616682 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Posteriorly rotated ears, Congenital diaphragmatic hernia, Camptodactyly, Overfolded helix, Abnor... |
OMIM:301044 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Abnormal repetitive mannerisms, Hearing impairment |
ORPHA:508498 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attent... |
OMIM:619522 |
Lowe Oculocerebrorenal Syndrome |
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Failure to thrive, Camptodactyly of finger, Aggressive behavior, Corneal scarring, Keloids, Ename... |
OMIM:309000 |
Wolf-Hirschhorn Syndrome |
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Abnormal pinna morphology, Small for gestational age, Sensorineural hearing impairment, Conductiv... |
OMIM:194190 |
Mowat-Wilson Syndrome |
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Broad-based gait, Posteriorly rotated ears, Ataxia, Uplifted earlobe, Impaired pain sensation, In... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Broad-based gait, Posteriorly rotated ears, Uplifted earlobe, Impaired pain sensation, Inability ... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Broad-based gait, Posteriorly rotated ears, Uplifted earlobe, Impaired pain sensation, Inability ... |
ORPHA:261552 |