Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors, Impaired social interactions |
OMIM:618830 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608631 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness |
OMIM:618221 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:607373 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:209850 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Dysphagia |
ORPHA:210571 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Dysphagia |
ORPHA:228169 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... |
OMIM:608636 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:613643 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Severe temper tantrums, Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait |
OMIM:619052 |
Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Impaired social interactions, Aggressive behavior |
OMIM:618103 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Bradykinesia, Lower limb spasticity, Attention deficit hyperactivity disorder |
OMIM:618878 |
Dystonia 16 |
|
Postural tremor, Involuntary movements, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Retr... |
OMIM:612067 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Restless legs, Rigidity, Bradykinesia, Parkinsonism with favorable response to do... |
OMIM:616710 |
Pick Disease Of Brain |
|
Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion... |
OMIM:172700 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dysphagia |
OMIM:128235 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Babinski sign, Parkinsonism with fa... |
OMIM:128230 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Dysphagia, Bradyk... |
ORPHA:240103 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Bradykinesia, D... |
OMIM:618317 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Tremor, Depression, Inappropriate behavior, Cognitive impairment, Dystonia, Memory impair... |
ORPHA:401901 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... |
ORPHA:98762 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:600116 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Dysphagia |
ORPHA:71517 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:605909 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... |
ORPHA:275864 |
Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Rigidity, Bradykinesia |
ORPHA:306686 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Chorea, Ataxia |
OMIM:618683 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Dysdiadochokinesis, Slurred speech, Bradykinesia |
OMIM:609161 |
Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... |
OMIM:619970 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski sign, Abnormal pyramidal sign... |
OMIM:617225 |
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 |
Spinocerebellar Ataxia 17 |
|
Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:607136 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... |
OMIM:600795 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle clonus, Lower limb hypertonia... |
ORPHA:100984 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Dysphagia, Limb myoclonus |
OMIM:619862 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... |
OMIM:613135 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Postnatal growth retardation, Gray matter heterotopia, Lissencephaly, Spasticity, Pachygy... |
OMIM:300067 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Abnormal pyramidal sign, Dysphagia, Bradykinesia, Ankle clonus, Hypertonia, Agitation, Br... |
OMIM:617435 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:619279 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Parkinsonism, Bradykinesia, Hypertonia, Attention deficit hyperactivity disorder, Limb hypertonia |
OMIM:617384 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Parkinsonism with favo... |
ORPHA:314632 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Upper limb s... |
OMIM:618418 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Seizure, Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Spasticity, L... |
OMIM:615528 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Bradykinesia, Apraxia, Spasticity, Action ... |
OMIM:300423 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Parkinsonism with favorable response to ... |
ORPHA:240085 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Hereditary Geniospasm |
|
Abnormal social behavior, Intention tremor |
ORPHA:53372 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Bradykinesia, Compulsive behaviors, Spastic paraparesis, Motor tics |
OMIM:615643 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia |
OMIM:618824 |
N-Acetylaspartate Deficiency |
|
Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive manner... |
OMIM:614063 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Leber Optic Atrophy And Dystonia |
|
Bradykinesia, Athetosis, Dysphagia, Spasticity, Upper motor neuron dysfunction |
OMIM:500001 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
ORPHA:306692 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Seizure, Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Huntington Disease |
|
Clonus, Involuntary movements, Oral-pharyngeal dysphagia, Rigidity, Aggressive behavior, Chorea, ... |
ORPHA:399 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Spasticity |
ORPHA:521406 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Ataxia, Aggressive behavior, Falls, Inappropriate laughter, Bruxism, Abnormal repetitiv... |
OMIM:619150 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... |
OMIM:619827 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Aggressive behavior, Tremor, Paraparesis, Babinski sign, ... |
OMIM:615157 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Parkinsonism, Rigidity, Dysphagia, Bradykinesia, Apraxia, Spasticity |
OMIM:221820 |
Intellectual Developmental Disorder, X-Linked 110 |
|
Bradykinesia |
OMIM:301095 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Ataxia, Clonus, Rigidity, Chorea, Dysphagia, Opisthotonus, Choreoathetosis, Bradyki... |
ORPHA:13 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Impulsivity, Myoclonic seizure, ... |
OMIM:617113 |
Juvenile Huntington Disease |
|
Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia... |
ORPHA:248111 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... |
ORPHA:101150 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Parkinsonism, Motor neuron atrophy, Bradykinesia, Inappropriate behavior, Abnormal neuron morphology |
ORPHA:412066 |
Spinocerebellar Ataxia 10 |
|
Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Brad... |
OMIM:603516 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, Self-injurious behavior, Impaired social interactions, Dystonia, Abnormal repe... |
OMIM:617820 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Blepharospasm, Bradykinesia, Parkinsonism with favorab... |
OMIM:606324 |
Huntington Disease |
|
Rigidity, Chorea, Bradykinesia, Gait ataxia |
OMIM:143100 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dysphagia, Lim... |
OMIM:261640 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Corticobasal Syndrome |
|
Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad... |
ORPHA:454887 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Paraparesis, Babinski s... |
OMIM:606693 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Emotional lability, Agitation, Aggressive behavior |
OMIM:617171 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv... |
ORPHA:101039 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Aggressive behavior... |
ORPHA:2382 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... |
OMIM:606159 |
Infantile Dystonia-Parkinsonism |
|
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp... |
ORPHA:238455 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
Frontotemporal Dementia |
|
Frontotemporal dementia, Frontal lobe dementia, Irritability, Dementia, Disinhibition, Inappropri... |
OMIM:600274 |
Hsd10 Disease |
|
Short attention span, Ataxia, Tremor, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal soci... |
ORPHA:391417 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
Landau-Kleffner Syndrome |
|
Short attention span, Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilat... |
ORPHA:98818 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Tremor, Bradykinesia, Ataxia, Rigidity |
OMIM:617836 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, Limb ataxia, Bradykine... |
OMIM:183090 |
Spastic Paraparesis And Deafness |
|
Tremor, Short stature, Spastic paraparesis |
OMIM:312910 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Kinetic tremor, Torticollis, Postural tremor, Impaired social interactions |
OMIM:611092 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Impaired oropharyngeal swallow ... |
ORPHA:53351 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Tremor, Hemiparesis, Parkinsonism, Bradykinesia |
ORPHA:306669 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Bradykinesia, Action tremor |
OMIM:606438 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Seizure, Cognitive impairment |
OMIM:238700 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Incoordination, Ataxia, Dysmetria, Gait ataxia, Hemiparesis, Bradykinesia, Dysphagia, Truncal ata... |
OMIM:601338 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Stereotypical hand wringing, Impaired social interactions |
ORPHA:397933 |
Huntington Disease-Like 1 |
|
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsines... |
ORPHA:157941 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... |
ORPHA:309246 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Dysphagia, Bradykinesia, Spastic paraparesis,... |
ORPHA:289560 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Restlessness, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Sp... |
OMIM:300055 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... |
ORPHA:1020 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoc... |
OMIM:137440 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Gait ataxia, Bradykinesi... |
OMIM:300623 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608049 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti... |
OMIM:617862 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia, Obsessive-compulsive ... |
ORPHA:36387 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Frontotemporal dementia, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner... |
OMIM:612069 |
Manganese Poisoning |
|
Postural tremor, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Bradykinesia, Hypertonia... |
ORPHA:306682 |
Machado-Joseph Disease |
|
Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb ataxia, Dyspha... |
OMIM:109150 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... |
OMIM:618718 |
Multiple System Atrophy, Cerebellar Type |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Neuromuscular d... |
ORPHA:227510 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Impulsivity, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine m... |
ORPHA:33069 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... |
OMIM:301008 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure |
OMIM:619031 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
ORPHA:599373 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Cogwheel rigidity, Bradykinesia, Dysphagia, Parkinsonism with favorable response to dopam... |
ORPHA:254886 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Attention deficit hyperactivity disorder, Abnormal social behavior, Compuls... |
ORPHA:444002 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Babinski sign |
OMIM:619063 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Chorea, Slurred speech, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, ... |
ORPHA:98755 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Impulsivity, Paraparesis, Oromotor apraxia, Clumsiness, Bradykines... |
OMIM:617854 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms |
OMIM:619470 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Foxg1 Syndrome |
|
Dystonia, Inability to walk, Choreoathetosis, Impaired social interactions, Bruxism, Difficulty w... |
ORPHA:561854 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia |
OMIM:619911 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Impulsivity, Tremor, Abnormal pyramidal sign, Neuromuscular dysphagia, Blepharospas... |
ORPHA:240071 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
Multiple System Atrophy |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... |
ORPHA:102 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... |
ORPHA:391411 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... |
OMIM:311510 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykinesia, Hype... |
OMIM:618877 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Adult-Onset Nemaline Myopathy |
|
Bradykinesia, Neuromuscular dysphagia, Poor fine motor coordination |
ORPHA:171442 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Attention deficit hyperactivity disorder, Ataxia, Impaired social interactions, Intention tremor |
ORPHA:137831 |
Hyperprolinemia, Type I |
|
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:239500 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
Primary Progressive Freezing Gait |
|
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Dysphagia, Frequen... |
ORPHA:75567 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Tremor, Rigidity, Bradykinesia, Limb hypertonia |
ORPHA:70594 |
Hartnup Disorder |
|
Seizure, Hyperactivity, Attention deficit hyperactivity disorder, Generalized tonic seizure |
OMIM:234500 |
Spinocerebellar Ataxia Type 29 |
|
Ataxia, Delayed early-childhood social milestone development, Dysmetria, Gait ataxia, Dysdiadocho... |
ORPHA:208513 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Multiple System Atrophy, Parkinsonian Type |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... |
ORPHA:98933 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Dysph... |
ORPHA:225147 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
Perry Syndrome |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Inappropriate behavior, Disinhibition |
OMIM:168605 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Short stature, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spa... |
OMIM:617284 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Impaired social i... |
OMIM:610042 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculo... |
ORPHA:240094 |
Cln3 Disease |
|
Extrapyramidal muscular rigidity, Ataxia, Aggressive behavior, Bradykinesia, Dysphagia |
ORPHA:228346 |
Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality of extrap... |
OMIM:613280 |
Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Dysphagi... |
ORPHA:171695 |
Atypical Rett Syndrome |
|
Restrictive behavior, Dystonia, Tremor, Inability to walk, Tongue thrusting, Gait ataxia, Pill-ro... |
ORPHA:3095 |
Spinocerebellar Ataxia Type 8 |
|
Ataxia, Rigidity, Limb ataxia, Gait ataxia, Spastic dysarthria, Bradykinesia, Dysphagia, Spasticity |
ORPHA:98760 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Dystonia, Ataxia, Aggressive behavior, Tremor, Depression, Impaired social interactions, Dysphagi... |
OMIM:619738 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiado... |
OMIM:610217 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradyki... |
ORPHA:98808 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... |
ORPHA:216873 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Limb ataxia, Titubation, Clumsiness, Gait ataxia, Bradykinesia, Myoclonus, Dysphagia |
ORPHA:98768 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dysphagia |
OMIM:168600 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Childhood-Onset Nemaline Myopathy |
|
Bradykinesia, Neuromuscular dysphagia, Poor fine motor coordination, Clumsiness |
ORPHA:171439 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Myoclonus |
OMIM:605899 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Postencephalitic Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Babinski sign, Abnormal pyramidal sign, Cogwheel... |
ORPHA:97349 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Shyness, Aggressive behavior, Depression, Self-injurious beh... |
ORPHA:449291 |
Young-Onset Parkinson Disease |
|
Restless legs, Short attention span, Impulsivity, Tremor, Depression, Frontal lobe dementia, Deme... |
ORPHA:2828 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggressive behavior, Tr... |
OMIM:612953 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Frequent falls, Hemiballismus |
ORPHA:494526 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Rasmussen Subacute Encephalitis |
|
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... |
ORPHA:1929 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Bradykinesia, Dysphagia, Truncal... |
OMIM:258450 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Self-injurious behav... |
ORPHA:382 |
Kleine-Levin Syndrome |
|
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... |
ORPHA:33543 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Hypermanganesemia With Dystonia 2 |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Clumsiness, Opisthotonus, Ankle clonus, Bradyk... |
OMIM:617013 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... |
ORPHA:466722 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Impaired social interactions, Aggressive behavior |
ORPHA:329249 |
Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Agenesis of corpus callosum |
OMIM:610245 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity |
OMIM:615924 |
Progressive Supranuclear Palsy |
|
Impulsivity, Tremor, Rigidity, Blepharospasm, Bradykinesia, Dysphagia |
ORPHA:683 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics |
OMIM:619927 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Myoclonus, Dysphagia |
OMIM:168601 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... |
ORPHA:530983 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dysphagia |
OMIM:615530 |
Neuroferritinopathy |
|
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk... |
ORPHA:157846 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Shyness, Difficulty walking, Dystonia, Abnormal repetitive mannerisms |
ORPHA:280763 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... |
OMIM:620145 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Fasciculations |
ORPHA:65684 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Impulsivity, Rigidity, Bradykinesia, Agitation, Dysphagia, Parkinso... |
ORPHA:411602 |
Baker-Gordon Syndrome |
|
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Dystonia, Abnormal repetitiv... |
OMIM:618218 |
Glutathionuria |
|
Tremor, Gray matter heterotopia, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor |
OMIM:231950 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Gait ataxia |
OMIM:609425 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Short attention span, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusti... |
OMIM:619580 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, Abnormal... |
OMIM:618917 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Abnormal eating behavior, Tremor, Obsessive-compulsive trait, Gait disturbance, Impaired ... |
ORPHA:544254 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Growth delay, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Hyperactivity, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal py... |
OMIM:234200 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Seizure, Diminished ability to concentrate, Febrile seizure (... |
OMIM:615516 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absenc... |
OMIM:271980 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines |
OMIM:301076 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria |
ORPHA:363710 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyram... |
ORPHA:397946 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Difficulty wal... |
OMIM:617695 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... |
OMIM:620292 |
Caribbean Parkinsonism |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... |
ORPHA:97355 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... |
OMIM:301029 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Short stature, Ataxia |
ORPHA:1368 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Parkinsonism, Rigidity, Slurred speech, Hand tremor, Gait ataxia, Bradykinesia, D... |
OMIM:157640 |
Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Spasticity, Ataxia, Tremor |
OMIM:278780 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Compulsive behaviors, Dysph... |
ORPHA:93256 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Short stature, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:600363 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Short attention span, Hyperactivity, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
OMIM:300558 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Depression, Cognitive impairment, Attention deficit hyperactivity disorder, ... |
ORPHA:98784 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Progressive psychomotor deterioration, Depression, Emotional lability, Prog... |
ORPHA:309271 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Short attention span, Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity... |
OMIM:618342 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Dystonia, E... |
ORPHA:309263 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Short stature, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Intent... |
OMIM:610185 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Aggressive behavior... |
ORPHA:168491 |
Christianson Syndrome |
|
Dystonia, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Abnormal repetitive man... |
ORPHA:85278 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Seizure, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... |
OMIM:620242 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Dementia, Progressive language deterioration, Cognitive impairment, Dysphagia, Loss o... |
ORPHA:79264 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Ataxia, Gait disturbance, Inappropriate laughter, Abnormal repetitive mannerisms, ... |
OMIM:614104 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal emotion, Impaired social interactions, Att... |
ORPHA:1942 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox... |
ORPHA:228402 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic... |
OMIM:617600 |
Rett Syndrome |
|
Limb apraxia, Bradykinesia, Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing |
ORPHA:778 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Agitation, Disinhibition... |
OMIM:607485 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Focal-onset ... |
ORPHA:163681 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
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Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Intellectual Developmental Disorder, X-Linked 77 |
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Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:300454 |
Leukodystrophy, Hypomyelinating, 6 |
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Short stature, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
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Short stature, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis |
OMIM:614831 |
Obesity, Hyperphagia, And Developmental Delay |
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Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Parkinsonism-Dystonia 2, Infantile-Onset |
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Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia |
OMIM:618049 |
Cerebral Creatine Deficiency Syndrome 2 |
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Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Neurodegeneration With Brain Iron Accumulation 8 |
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Tremor, Ataxia, Dysmetria |
OMIM:617917 |
Multiple System Atrophy 1, Susceptibility To |
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Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
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Ataxia, Confusion, Agitation, Cognitive impairment, Emotional lability, Abnormal repetitive manne... |
ORPHA:927 |
Porphyria Due To Ala Dehydratase Deficiency |
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Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
Kufor-Rakeb Syndrome |
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Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... |
ORPHA:306674 |
Developmental And Epileptic Encephalopathy 103 |
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Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epile... |
OMIM:619913 |
Stiff Person Spectrum Disorder |
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Emotional lability, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
X-Linked Intellectual Disability, Van Esch Type |
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Attention deficit hyperactivity disorder, Impaired social interactions |
ORPHA:163976 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Resting tremor, Ataxia, Tremor, Rigidity, Gait ataxia, Cogwheel rigidity, Bradykinesia, Hypertoni... |
ORPHA:254892 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
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Ataxia, Short stature, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxi... |
ORPHA:1170 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
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Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... |
OMIM:618825 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
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Impaired social interactions, Aggressive behavior |
OMIM:616083 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
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Dystonia, Ataxia, Short stature, Postural tremor, Tremor, Babinski sign, Dysmetria, Delayed puber... |
OMIM:607694 |
Choreoacanthocytosis |
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Chorea, Hypertonia, Compulsive behaviors, Self-mutilation of tongue and lips due to involuntary m... |
ORPHA:2388 |
Intellectual Developmental Disorder, X-Linked 107 |
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Seizure, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Supranuclear Palsy, Progressive, 2 |
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Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Bradykinesia, Retrocollis, Dysphagia |
OMIM:609454 |
Chromosome 15Q11.2 Deletion Syndrome |
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Ataxia, Diminished ability to concentrate, Compulsive behaviors, Impaired social interactions, At... |
OMIM:615656 |
Xq28 (MECP2) duplication |
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Inability to walk, Depression, Gait ataxia, Dysphagia, Abnormal repetitive mannerisms |
DECIPHER:45 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Gait ataxia, Progressive gait ataxia, Tip-toe gait, Dystonia, Emotional lability, Abnormal social... |
ORPHA:309256 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
ORPHA:313892 |
48,Xxxy Syndrome |
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Tremor, Irritability, Attention deficit hyperactivity disorder, Abnormal social behavior, Abnorma... |
ORPHA:96263 |
Galloway-Mowat Syndrome 6 |
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Abnormal repetitive mannerisms, Paroxysmal bursts of laughter |
OMIM:618347 |
Cerebral Creatine Deficiency Syndrome 1 |
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Broad-based gait, Dystonia, Aggressive behavior, Gait disturbance, Impaired social interactions, ... |
OMIM:300352 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
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Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Hyperphenylalaninemia, Bh4-Deficient, B |
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Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Niemann-Pick Disease Type C |
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Limb dystonia, Axial dystonia, Dystonia, Ataxia, Progressive neurologic deterioration, Aggressive... |
ORPHA:646 |
Leukodystrophy, Hypomyelinating, 11 |
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Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hyperto... |
ORPHA:309854 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Memory i... |
ORPHA:314647 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Inability to walk, Exaggerated startle response, Irritability, Short attention span |
OMIM:617864 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
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Tremor, Depression, Gait disturbance, Abnormal repetitive mannerisms, Self-mutilation |
ORPHA:457240 |
Dystonia 2, Torsion, Autosomal Recessive |
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Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Bradykinesia, Babinski sign, Spastic tetraparesis |
OMIM:614924 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
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Short stature, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Growth delay, Dys... |
OMIM:614381 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
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Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Cri-Du-Chat Syndrome |
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Short attention span, Hyperactivity, Aggressive behavior, Difficulty walking, Abnormal repetitive... |
OMIM:123450 |
Rett Syndrome, Congenital Variant |
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Dystonia, Tongue thrusting, Athetosis, Irritability, Impaired social interactions, Bruxism, Abnor... |
OMIM:613454 |
Supranuclear Palsy, Progressive, 1 |
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Eyelid apraxia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Retrocollis, Dysphagia |
OMIM:601104 |
Tay-Sachs Disease |
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Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
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Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compulsive behaviors, Att... |
OMIM:300986 |
Tay-Sachs Disease |
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Short attention span, Exaggerated startle response, Dystonia, Tremor, Inability to walk, Dysmetri... |
ORPHA:845 |
Pelizaeus-Merzbacher Disease |
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Generalized dystonia, Short stature, Writer's cramp, Ataxia, Tremor, Head titubation, Spastic par... |
OMIM:312080 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
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Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... |
OMIM:619121 |
Spastic Paraplegia 9B, Autosomal Recessive |
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Short stature, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Growth delay, Pseudobulbar... |
OMIM:616586 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation |
OMIM:618056 |
Intellectual Developmental Disorder, X-Linked 98 |
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Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Imp... |
OMIM:300912 |
Ataxia With Vitamin E Deficiency |
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Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Spinocerebellar Ataxia 8 |
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Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
47,Xyy Syndrome |
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Hyperactivity, Impulsivity, Impaired social interactions, Attention deficit hyperactivity disorder |
ORPHA:8 |
Proximal 16P11.2 Microdeletion Syndrome |
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Dystonia, Choreoathetosis, Attention deficit hyperactivity disorder, Impaired social interactions... |
ORPHA:261197 |
Non-Specific Early-Onset Epileptic Encephalopathy |
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Short stature, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Myoc... |
ORPHA:442835 |
Dystonia 1, Torsion, Autosomal Dominant |
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Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph... |
OMIM:128100 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Inability to walk, Exaggerated startle response, Depression |
OMIM:620114 |
Wagro Syndrome |
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Aggressive behavior, Agitation, Low frustration tolerance, Compulsive behaviors, Impaired social ... |
OMIM:612469 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
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Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity |
OMIM:176500 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus |
OMIM:618314 |
Spinocerebellar Ataxia Type 21 |
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Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
Leukodystrophy, Hypomyelinating, 13 |
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Irritability, Exaggerated startle response, Ataxia |
OMIM:616881 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Spastic ataxia, Short attention span, Torticollis, Inability to walk, Delayed early-childhood soc... |
ORPHA:300570 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
Fg Syndrome Type 1 |
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Broad-based gait, Abnormal social behavior, Compulsive behaviors, Attention deficit hyperactivity... |
ORPHA:93932 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Exaggerated startle response, Tremor, Patent ductus arteriosus, Fasciculations, Intrauterine grow... |
OMIM:620327 |
Prader-Willi Syndrome Due To Translocation |
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Head-banging, Compulsive behaviors, Attention deficit hyperactivity disorder, Impaired social int... |
ORPHA:177907 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
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Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:612621 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
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Tremor, Ataxia, Dysmetria, Titubation |
OMIM:619405 |
Neurodegeneration With Brain Iron Accumulation 4 |
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Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babin... |
OMIM:614298 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity d... |
ORPHA:476126 |
Transketolase Deficiency |
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Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
ORPHA:488618 |
Tuberous Sclerosis Complex |
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Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... |
ORPHA:805 |
Nmda Receptor Encephalitis |
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Short attention span, Oculogyric crisis, Confusion, Hypersexuality, Opisthotonus, Choreoathetosis... |
ORPHA:217253 |
Stiff-Person Syndrome |
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Depression, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Niemann-Pick Disease, Type C2 |
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Ataxia, Dysphagia, Dementia, Dystonia, Abnormal repetitive mannerisms |
OMIM:607625 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Inability to walk, Exaggerated startle response |
OMIM:609541 |
Aceruloplasminemia |
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Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ... |
ORPHA:48818 |
Sandhoff Disease |
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Progressive psychomotor deterioration, Exaggerated startle response, Ataxia |
OMIM:268800 |
1P21.3 Microdeletion Syndrome |
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Abnormal eating behavior, Aggressive behavior, Shyness, Self-injurious behavior, Self-mutilation |
ORPHA:293948 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response, Ataxia |
OMIM:618598 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Intention tremor, Restrictive behavio... |
OMIM:619475 |
Developmental And Epileptic Encephalopathy 49 |
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Hyperactivity, Exaggerated startle response |
OMIM:617281 |
Tremor, Nystagmus, And Duodenal Ulcer |
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Tremor, Kinetic tremor |
OMIM:190310 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response, Cognitive impairment, Dysphagia |
OMIM:617527 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
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Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... |
OMIM:616393 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response, Dysphagia |
OMIM:617301 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Inability to walk, Abnormal social behavior, Irritability, Abnormal aggressive, impulsive or viol... |
ORPHA:1675 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Short attention span, Head-banging, Self-injurious behavior, Attention deficit hyperactivity diso... |
OMIM:619575 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Van Esch-O'Driscoll Syndrome |
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Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Shyness |
OMIM:301030 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Mend Syndrome |
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Hyperactivity, Abnormal social behavior, Aggressive behavior |
ORPHA:401973 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353281 |
Plaa-Associated Neurodevelopmental Disorder |
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Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia |
ORPHA:521426 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Asparagine Synthetase Deficiency |
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Tremor, Irritability, Exaggerated startle response |
OMIM:615574 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response |
ORPHA:309155 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... |
ORPHA:363958 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax... |
OMIM:614756 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:447997 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Irritability, Exaggerated startle response, Dysphagia |
OMIM:618367 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
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Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Trichothiodystrophy |
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Reduced social reciprocity, Intention tremor, Gait ataxia |
ORPHA:33364 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Dystonia |
ORPHA:79255 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353277 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response |
OMIM:253800 |
Williams Syndrome |
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Ataxia, Tremor, Dysmetria, Depression, Gait disturbance, Gait imbalance, Attention deficit hypera... |
ORPHA:904 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... |
OMIM:619522 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Broad-based gait, Exaggerated startle response, Dystonia, Inability to walk, Dysphagia, Stereotyp... |
ORPHA:438213 |