Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
gamma-aminobutyric acid (GABA) A receptor, subunit beta 3
Synonyms:
Gabrb-3,  A230092K12Rik,  beta3

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gabrb3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Gabrb3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, E... ORPHA:2382
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Anxiety, Limb myoclonus, Attention deficit hyperactivity disorder ORPHA:64280
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269

The table below shows human diseases predicted to be associated to Gabrb3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Epilepsy, Familial Adult Myoclonic, 1
Tremor, EEG with photoparoxysmal response, Giant somatosensory evoked potentials, Enhancement of ... OMIM:601068
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Steppage gait, Vestibular Schwannoma, Distal sensory impairment OMIM:613641
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618221
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia, EEG abnormality OMIM:617831
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Worster-Drought Syndrome
Tetraplegia, Abnormal cranial nerve morphology, Sensorineural hearing impairment, Seizure ORPHA:3465
Autosomal Recessive Spastic Paraplegia Type 27
Spastic paraplegia, Dysdiadochokinesis, Impaired vibration sensation at ankles, Sensorineural hea... ORPHA:101007
Glutathionuria
Tremor OMIM:231950
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Cerebellar atrophy, Tremor, Ataxia OMIM:617862
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor, Enhancement of the C-reflex, Jerk-locked premyoclonus spikes OMIM:615127
Autism
Seizure, Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behav... OMIM:209850
Autism, Susceptibility To, X-Linked 3
Seizure, Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300496
Autism, Susceptibility To, X-Linked 2
Seizure, Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300495
Autism, Susceptibility To, 8
Seizure, Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behav... OMIM:607373
Autism, Susceptibility To, X-Linked 1
Seizure, Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behav... OMIM:608636
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Cerebellar atrophy, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Action tremor, Ataxia, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Intellectual Developmental Disorder, X-Linked 104
Tremor, Poor eye contact, Abnormality of the pinna, Ataxia, Seizure, Cerebral cortical atrophy, H... OMIM:300983
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Ataxia, Hyperactivity OMIM:613402
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Poor eye contact, Tetraparesis, Ataxia, Cerebellar atrophy, Tongue f... OMIM:618276
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment, Ataxia OMIM:136600
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Epilepsy, Familial Adult Myoclonic, 3
Tremor, EEG with photoparoxysmal response, Giant somatosensory evoked potentials, Enhancement of ... OMIM:613608
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Impaired social interactions, Stereotypy OMIM:606053
Developmental And Epileptic Encephalopathy 58
Inability to walk, Hypsarrhythmia, Spastic diplegia, Seizure, Status epilepticus, Stereotypy, Opt... OMIM:617830
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypoplasia of the corpus callosum, Self-injurious behavior, Hypertonia, Secondary microcephaly, S... OMIM:615282
Behavioral Variant Of Frontotemporal Dementia
Emotional blunting, Memory impairment, Aggressive behavior, Abnormality of extrapyramidal motor f... ORPHA:275864
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Cerebellar at... ORPHA:248111
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Arnold-Chiari Malformation Type I
Adult onset sensorineural hearing impairment, Vertigo, Fatigable weakness of swallowing muscles, ... ORPHA:268882
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608631
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Mohr-Tranebjaerg Syndrome
Dystonia, Global brain atrophy, Sensorineural hearing impairment, Generalized dystonia, Abnormali... ORPHA:52368
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Seizure, Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG... OMIM:617519
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, EEG with polyspike wave complexes, Myoclonus, Intention tremor, Morning myoc... ORPHA:308
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Seizure, Somatic sensory dysfunctio... ORPHA:320401
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Spastic tetraplegia, Irritability, Babinski sign, Hyperactivity OMIM:616657
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Irregular myelin ... OMIM:601382
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials, Ataxia, Spasti... ORPHA:99852
Distal 7Q11.23 Microdeletion Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Arnold-Chiari malformation ORPHA:254351
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Shyness, Difficulty walking, Cerebellar atrophy, Waddling gait, Stereotypy, Babinski si... ORPHA:280763
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Inability to walk, Gait ataxia, Chorea, Poor eye contact, Ataxia, Cerebellar vermis atrophy, Dysm... OMIM:618501
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus OMIM:611092
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:614561
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Impaired social interactions, Partial absence of cerebellar vermis, Poor eye contact, Cerebellar ... ORPHA:137831
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Drooling, Abnormal social behavior, Gait disturbanc... ORPHA:391417
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Self-injurious behavior, Cerebellar atrophy, St... OMIM:618917
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cleft palate, Non-midline cleft lip, Tooth agenesis ORPHA:1074
Superficial Siderosis
Abnormality of the vestibulocochlear nerve, Dysdiadochokinesis, Vertigo, Paresthesia, Slurred spe... ORPHA:247245
Aminoacylase 1 Deficiency
Cerebellar atrophy, Hyperactivity OMIM:609924
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Childhood Disintegrative Disorder
Impaired social interactions, Dementia, Abnormal emotion/affect behavior, Seizure, Social and occ... ORPHA:168782
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Mental Retardation, Autosomal Recessive 37
Spasticity, Aggressive behavior, Hyperactivity OMIM:615493
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cerebral atrophy, Seizure, Irritability, Stereotypy, Microcephaly, Spasticity OMIM:617393
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy, Attention deficit hyperactivity disorder OMIM:617787
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Smith-Magenis syndrome
Self-mutilation, Stereotypy, Hyperactivity DECIPHER:8
N-Acetylaspartate Deficiency
Self-mutilation, Truncal ataxia, Seizure, Stereotypy, Microcephaly OMIM:614063
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Delayed social development, Gait ataxia, Oculomotor apraxia, Ataxia, Cerebell... ORPHA:208513
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Hemiballismus ORPHA:494526
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Spasticity, Aggressive behavior, Hyperactivity ORPHA:356996
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic diplegia, Progressive inabili... ORPHA:206443
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Apathy, Frontotemporal dementia, Amyotrophic lateral sclerosis, Emotional lability, Babinski sign... OMIM:612069
Spastic Paraplegia 81, Autosomal Recessive
Inability to walk, Upper limb spasticity, Ankle clonus, Lower limb spasticity, Sensorineural hear... OMIM:618768
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Aggressive behavior, Focal-onset seizure, Chorea, Poor coordination, Paroxysmal dyskinesia, Ataxi... OMIM:619150
X-Linked Charcot-Marie-Tooth Disease Type 6
Difficulty walking, Sensorineural hearing impairment, Impaired vibration sensation in the lower l... ORPHA:352675
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Fasciculations, Tremor ORPHA:65684
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Seizure, Abnormal corpus callosum morphology, Cortical dysplasia, Stereotypy, Microcephaly OMIM:618709
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Sensorineural hearing impair... OMIM:270500
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Spinocerebellar Ataxia 14
Gait ataxia, Progressive cerebellar ataxia, Cerebellar atrophy, Focal dystonia, Dysmetria, Attent... OMIM:605361
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... OMIM:260300
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Dopa-Responsive Dystonia
Dystonia, Abnormality of extrapyramidal motor function, Agoraphobia, Emotional lability, Panic at... ORPHA:255
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Axonal loss, Onion bulb formation, Hearing impairment, Abnormal auditory evoked... OMIM:601455
Autosomal Dominant Non-Syndromic Intellectual Disability
Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-onset seizur... ORPHA:178469
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Impaired social interactions, Self-injurious behavior, Hyperkinetic movements, Seizure, Stereotyp... ORPHA:397933
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Upp... ORPHA:101110
Intellectual Developmental Disorder, X-Linked 109
Aggressive behavior, Hyperactivity OMIM:309548
Merrf
Optic atrophy, Sensorineural hearing impairment, Ataxia, Generalized myoclonic seizure ORPHA:551
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Park... OMIM:619279
Mental Retardation, Autosomal Recessive 58
Aggressive behavior, Self-injurious behavior, Spastic diplegia, Stereotypy, Choreoathetosis OMIM:617270
Epilepsy, Familial Adult Myoclonic, 2
Tremor, EEG with photoparoxysmal response, Blepharospasm, Ataxia, Giant somatosensory evoked pote... OMIM:607876
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Ataxia, Seizure, Sensorineural hearing impairment, Optic atrophy ORPHA:1171
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa... ORPHA:251282
Syngap1-Related Developmental And Epileptic Encephalopathy
Impaired social interactions, Tremor, Thin vermilion border, Abnormal tongue physiology, Narrow m... ORPHA:544254
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Xq25 Microduplication Syndrome
Cerebellar hypoplasia, Anxiety, Hyperactivity ORPHA:521258
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Xq25 Duplication Syndrome
Cerebellar hypoplasia, Anxiety, Hyperactivity OMIM:300979
Bilateral Generalized Polymicrogyria
Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-onset seizur... ORPHA:208447
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Cerebral atrophy, Cerebral white matter hypoplasia, Seizure, Irritability, Stereotypical hand wri... ORPHA:500545
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Aggressive behavior, Apathy, Frontotemporal dementia, Cerebral cortical atrophy, Myoclonus, Stere... OMIM:600795
Foxg1 Syndrome
Impaired social interactions, Cognitive impairment, Pachygyria, Agenesis of corpus callosum, Poor... ORPHA:561854
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, EEG abnormality, Myoclonus ORPHA:86814
Intellectual Developmental Disorder, X-Linked 98
Short philtrum, Open mouth, Hypsarrhythmia, Macrotia, Poor eye contact, Ataxia, Status epilepticu... OMIM:300912
Unilateral Focal Polymicrogyria
Impaired use of nonverbal behaviors, EEG with frontal focal spikes, EEG with parietal focal spike... ORPHA:268947
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Tremor, Hypertonia, Ataxia, Sensorineural hearing i... ORPHA:1368
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with generalized epileptiform discharges, EEG with focal epileptiform discharges, H... ORPHA:88616
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Overfolded helix, Focal-onset seizure, Hypertoni... OMIM:619092
Shukla-Vernon Syndrome
Stereotypy, Cerebellar atrophy, Attention deficit hyperactivity disorder, Broad-based gait OMIM:301029
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Hyperkinetic movements, Ataxia, Cerebellar atrophy,... OMIM:271980
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Short philtrum, Generalized tonic seizure, Occipital cortical atrophy, Hypsarr... ORPHA:411986
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia, Seizure ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, Spasticity OMIM:607317
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:168100
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, EEG with spike-wave complexes (>3.5 Hz), Narrow mouth, Chorea, Focal... OMIM:619317
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign,... OMIM:610245
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Impaired proprioception, Impaired vibratory sensation, Paresthe... ORPHA:101085
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Progressive sensorineural hearing impairment, Episodic ataxia, Gait ataxia, Truncal ataxia, Incoo... OMIM:601338
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Truncal ataxia, Limb dysmetria, Diffuse cerebellar... ORPHA:363710
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Parkinsonism... OMIM:128230
Pick Disease Of Brain
Emotional blunting, Apathy, Diminished motivation, Frontotemporal dementia, Irritability, Stereotypy OMIM:172700
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Focal-onset seizure, Self-injurious behavior, Chorea, Hypoplasia o... OMIM:618760
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Difficulty walking, Poor eye contact, Cerebellar vermis hypoplasia, Spasti... OMIM:617807
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Fatiguable weakness of proximal limb muscles, Somatic sensory dysfunction, Abnormal perip... ORPHA:90117
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Atonic seizure, Eyelid myoclonus, Abno... ORPHA:2590
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, A... ORPHA:228360
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Seizure, Status epilepticus, Stereotypy OMIM:239500
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Drooling, Downturned corners of mouth, Brain atrophy, Low-set ears, Se... OMIM:618718
Chromosome 3Q29 Deletion Syndrome
Short philtrum, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears, Thin upper lip ver... OMIM:609425
Fraxe Intellectual Disability
Clumsiness, Aggressive behavior, Recurrent hand flapping, Hyperactivity, Stereotypical body rocking ORPHA:100973
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Babinski sign, Spasticity OMIM:615768
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Tremor, Incoordination, Hand tremor, Difficulty walkin... OMIM:302800
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Gait disturbance, Onion bulb formation, Hearing impairment, Sensorineural hearing impairment, Dis... OMIM:311070
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Optic Atrophy 11
Facial diplegia, Macrotia, Hyperkinetic movements, Ataxia, Brain atrophy, Hearing impairment, Dys... OMIM:617302
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... OMIM:600363
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Ataxia, Spasticity OMIM:615889
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Intention tremor OMIM:302500
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Developmental And Epileptic Encephalopathy 44
Dystonia, Poor eye contact, Cerebellar atrophy, Irritability, Athetosis, Spasticity OMIM:617132
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Dystonia 27
Postural tremor, Action tremor OMIM:616411
Pontocerebellar Hypoplasia, Type 14
Delayed social development, Dystonia, Hypertonia, Cerebellar hypoplasia, Spastic tetraplegia, Hyp... OMIM:619301
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Myoclonus, Prolonged somatosensory evoked potentials OMIM:608105
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Somatic sensory dysfunction, Myo... ORPHA:98763
Baker-Gordon Syndrome
Inability to walk, Dystonia, Self-injurious behavior, Hyperkinetic movements, Ataxia, Stereotypy,... OMIM:618218
Parkinson Disease 19A, Juvenile-Onset
Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:615528
Glut1 Deficiency Syndrome 2
Tremor, Choreoathetosis, EEG abnormality, Ataxia OMIM:612126
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Tremor, Ataxia, Impaired pain sensation ORPHA:101075
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Poor fine motor coordination, Abnormal pyramidal sign, Action tr... ORPHA:98762
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Tremor, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Cerebel... ORPHA:457240
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Gait ataxia, Apraxia, Tremor, Impaired social i... ORPHA:3095
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration, Photosensitive myoclonic sei... OMIM:172500
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Abnormal auditory evoked potentials, Sen... ORPHA:99027
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Dysmetria OMIM:616127
Immunodeficiency 8
Hyperactivity OMIM:615401
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Aggressive behavior, Focal-onset seizure, Ataxia, Seizure, Cortical... OMIM:610042
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, EEG with spike-wave complexes, Truncal ataxia, Gait ataxia, Chorea, EEG with polyspike wa... OMIM:618587
Adult Krabbe Disease
Hemiplegia, Hoffmann sign, Prolonged brainstem auditory evoked potentials, Clumsiness, Impaired t... ORPHA:206448
Spastic Paraplegia 5A, Autosomal Recessive
Spastic paraplegia, Limb dysmetria, Spastic gait, Sensorineural hearing impairment, Lower limb sp... OMIM:270800
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Christianson Syndrome
Aplasia/Hypoplasia of the cerebellum, Dystonia, Gait ataxia, Truncal ataxia, Cerebellar atrophy, ... ORPHA:85278
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Cochlear degeneration, Spinocerebellar atrophy, Head tremor, Difficulty walking, Pro... ORPHA:95433
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Cerebral atrophy, Seizure, Hyperactivity, Tetraplegia, Optic atrophy OMIM:274270
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Gait ataxia, Truncal ataxia, Head tremor, Abnormal pyramidal sign, Cerebral atrophy, Progressive ... ORPHA:352641
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Intention tremor, Frequent falls, Spastic dysarthria, ... ORPHA:314978
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Hypertonia, Intention tremor, Ataxia, Seizure, Cleft palate, Cerebellar atrop... OMIM:618356
Myoclonic-Astatic Epilepsy
Atonic seizure, Interictal epileptiform activity, Simple febrile seizure, Bilateral tonic-clonic ... ORPHA:1942
Developmental And Epileptic Encephalopathy 26
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:616056
Ataxia-Deafness-Intellectual Disability Syndrome
Abnormal palate morphology, Ataxia, Cerebral cortical atrophy, Sensorineural hearing impairment, ... ORPHA:1188
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sens... ORPHA:1215
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis OMIM:159900
Parkinson Disease 17
Tremor, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Rasmussen Subacute Encephalitis
Global brain atrophy, Generalized convulsive status epilepticus, Interictal epileptiform activity... ORPHA:1929
Landau-Kleffner Syndrome
Interictal EEG abnormality, Speech apraxia, Focal myoclonic seizure, Bilateral tonic-clonic seizu... ORPHA:98818
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:600116
Developmental And Epileptic Encephalopathy 30
Seizure, Stereotypy, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:616341
Mental Retardation With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Speech apraxia, Self-injurious behavior, Anxiety, Stereotypy, Attention defi... OMIM:613670
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Ataxia OMIM:617917
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Aggressive behavior, Hypertonia, Spastic tetraparesis, Hemiparesis, Hyperactivity OMIM:604317
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Clumsiness, Focal T2 hyperintense thalamic lesion, De... ORPHA:79264
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Abnormal sensory nerve conduction velocity, Impaired distal vibration sensation, Fascicul... ORPHA:276435
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short philtrum, Open mouth, Everted lower lip vermilion, Smooth philtrum, Abnormality of the dent... OMIM:618342
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Macrotia, Difficulty walking, Limb ataxia, Poor eye contact, Poor coordination... OMIM:617695
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Cerebral atrophy, Ataxia, Seizure, Myocl... OMIM:615924
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Tremor, Ataxia, Decreased nerve conduction velocity ORPHA:101078
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Ataxia, Bradykinesia, EEG abnormality, Rigidity OMIM:617836
Charcot-Marie-Tooth Disease Type 4D
Inability to walk, Postural tremor, Decreased motor nerve conduction velocity, Decreased amplitud... ORPHA:99950
Cdkl5-Deficiency Disorder
Generalized tonic seizure, Difficulty walking, Focal-onset seizure, Everted lower lip vermilion, ... ORPHA:505652
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Gait ataxia, Aggressive behavior, Poor eye contact, Spasticit... OMIM:103050
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Stereotypy, Hyperactivity OMIM:615541
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Abnormal pyramidal sign, Cerebellar atrophy, Hyperactivity, Tetraplegia ORPHA:369939
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Lamb-Shaffer Syndrome
Abnormal social behavior, Thick vermilion border, Ataxia, Seizure, Stereotypy, Upper motor neuron... ORPHA:530983
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Late Infantile Neuronal Ceroid Lipofuscinosis
Atonic seizure, Low frustration tolerance, Myoclonic seizure, Periventricular white matter hyperd... ORPHA:168491
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyki... ORPHA:314632
Mental Retardation, Autosomal Dominant 7
Thickened helices, Incoordination, Febrile seizure (within the age range of 3 months to 6 years),... OMIM:614104
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Behr Syndrome
Tremor, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Usher Syndrome Type 1
Abnormal dental enamel morphology, Ataxia, Subcortical cerebral atrophy, Cerebral cortical atroph... ORPHA:231169
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, H... OMIM:609260
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Dysmetria, Spasticity OMIM:213200
Obesity, Hyperphagia, And Developmental Delay
Seizure, Poor eye contact, Stereotypy OMIM:613886
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Seizure, Macrotia OMIM:300928
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Leber Congenital Amaurosis 2
Cerebellar vermis hypoplasia, Eye poking OMIM:204100
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Arnold-Chiari type I malformation, Recurrent hand flapping, Spasticity OMIM:618859
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Upper limb postural tremor... OMIM:180800
Mental Retardation, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypoplasia, Dilated fourth ventric... OMIM:617751
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Head tremor, Action tremor, Progressive cerebellar ataxia, Parkinsonism, Dysm... OMIM:604326
Glycine Encephalopathy
Lethargy, Aggressive behavior, Irritability, Myoclonus, Hyperactivity OMIM:605899
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypertonia, Choreoathetosis, Myoclonus OMIM:261630
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Spastic paraparesis, Peripheral demyelination, Peripheral h... OMIM:609136
Spinocerebellar Ataxia Type 36
Truncal ataxia, Difficulty walking, Limb ataxia, Head tremor, Ataxia, Tongue fasciculations, Loss... ORPHA:276198
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Intention tremor, Ataxia, Cerebellar atrophy, Sensorineural hearing impairment, Dysmetria, Decrea... OMIM:612674
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Distal sensory impairment, Frequent falls, Spasticity OMIM:616719
Mental Retardation, Autosomal Recessive 41
Seizure, Anxiety, Stereotypy OMIM:615637
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Sensorineural hearing impairment, Ataxia ORPHA:85297
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Speech apraxia, Bradykinesia, Progressive extrapyramidal ... ORPHA:454887
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Smith-Magenis Syndrome
Impaired pain sensation, Morphological abnormality of the middle ear, Abnormality of the dentitio... OMIM:182290
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Distal sensory impairment OMIM:616668
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:612953
Hypermanganesemia With Dystonia 2
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Spasticity OMIM:617013
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Vestibular areflexia, Gait ataxia, Progressive cerebellar ataxia, Sensorineur... ORPHA:504476
Cri-Du-Chat Syndrome
Overfriendliness, Short philtrum, Downturned corners of mouth, Thick lower lip vermilion, Difficu... OMIM:123450
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Distal sensory impairment OMIM:618387
Acrocraniofacial Dysostosis
Short philtrum, Conductive hearing impairment, Natal tooth, Abnormality of the outer ear, Abnorma... OMIM:201050
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Action tremor, Bradykinesia, Parkinsonism, Babinski sign OMIM:300423
Mental Retardation, Autosomal Recessive 61
Low-set ears, Posteriorly rotated ears, EEG abnormality, Babinski sign, Hyperactivity, Conical to... OMIM:617773
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Thick upper lip vermilion, Abnormality of the dentition, Thin upper lip vermilion... OMIM:226440
Autism Spectrum Disorder Due To Auts2 Deficiency
Short philtrum, Narrow mouth, Hypertonia, Low-set ears, Seizure, Stereotypy, Hyperactivity, Repet... ORPHA:352490
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Abnormal pyramidal sign, Parkinsonism, Upper motor neuron dysfunction... ORPHA:216873
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Narrow mouth, Drooling, Macrotia, Seizure, Death in childhood, St... DECIPHER:45
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Aggressive behavior, Broad-based gait, Resting tremor, Lower limb spasticity, Irritabilit... ORPHA:3077
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Action tremor ORPHA:464440
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Global brain atrophy, Spastic hemiparesis, Progressive extrapyramidal muscular rigidi... ORPHA:282166
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Abnormal nerve conduction velocity, Paraparesis, Ataxia, Impaired pain sensation ORPHA:99014
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Tetraparesis, Wide mouth, Ataxia, Irregular dentition, Brain atrophy, Cerebella... OMIM:619260
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Distal 7Q11.23 Microduplication Syndrome
Anxiety, Attention deficit hyperactivity disorder, Arnold-Chiari malformation ORPHA:261102
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Aggressive behavior, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis... OMIM:612716
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Interictal EEG abnormality, Clumsiness, Chorea, Poor fine motor coordination, Ataxia, Myo... ORPHA:79263
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Spasticity ORPHA:521406
Mannosidosis, Beta A, Lysosomal
Seizure, Hearing impairment, Hyperactivity OMIM:248510
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Clumsiness, Bilateral sensorineural hearing impairment, Progressive gait ataxia, Abnorm... ORPHA:309263
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Apraxia, Gait ataxia, EEG abnormality, Dysmetria, Spasticity OMIM:617810
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Clumsiness, Progressive gait ataxia, Decreased nerve conduction velocity, ... ORPHA:309256
Epilepsy, Progressive Myoclonic, 6
Tremor, Myoclonus, Ataxia OMIM:614018
Kohlschutter-Tonz Syndrome-Like
Enamel hypoplasia, Carious teeth, Hypsarrhythmia, Global brain atrophy, Yellow-brown discoloratio... OMIM:619229
Peroxisomal Acyl-Coa Oxidase Deficiency
Hypertonia, Gait disturbance, Death in infancy, Hypodontia, Low-set ears, Seizure, Sensorineural ... ORPHA:2971
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Babi... OMIM:609270
Deafness, Dystonia, And Cerebral Hypomyelination
Dystonia, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Cerebellar atrophy, Sensorineural h... OMIM:300475
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, E... ORPHA:2382
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Hypertonia, Intention tremor, Bradykinesia, Em... OMIM:610217
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Myoclonus, Dysmetria OMIM:619028
Potocki-Lupski Syndrome
Dental crowding, Poor eye contact, Wide mouth, Smooth philtrum, Seizure, Hearing impairment, EEG ... OMIM:610883
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Macrotia, Cerebral atrophy, Wide mouth, Seizure, EEG abnormality, Recurrent hand flapping, High, ... OMIM:617268
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta, Unilateral vestibular Schwannoma, Sensorineural heari... OMIM:603641
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:605909
Leukodystrophy, Hypomyelinating, 15
Inability to walk, Dystonia, Abnormal pyramidal sign, Cerebral atrophy, Ataxia, Seizure, Cerebell... OMIM:617951
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Smooth philtrum, Macrotia OMIM:301013
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Ataxia, Vestibular hypofunction ORPHA:231183
Autism, Susceptibility To, 3
Seizure, Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behav... OMIM:608049
Spinocerebellar Ataxia, X-Linked 3
Unilateral vocal cord paralysis, Incoordination, Lethargy, Death in infancy, Head titubation, Sei... OMIM:301790
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, EEG abnormality, Babinski sign, Choreoathetosis OMIM:300055
Mental Retardation, Autosomal Recessive 13
Abnormal cerebellar vermis morphology, Hyperactivity OMIM:613192
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Aggressive behavior, Poor eye contact, Self-injurious beha... ORPHA:449291
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Myopathy With Extrapyramidal Signs
Chorea, Tremor, Ataxia, Abnormality of extrapyramidal motor function OMIM:615673
Radio-Tartaglia Syndrome
Long philtrum, Tremor, Short philtrum, Attention deficit hyperactivity disorder, Drooling, Dental... OMIM:619312
Developmental And Epileptic Encephalopathy 42
Tremor, Hypertonia, Ataxia, EEG abnormality, Athetosis OMIM:617106
Intellectual Developmental Disorder, X-Linked 30
Drooling, Open mouth, Macrotia, Thin upper lip vermilion, Seizure, Hyperactivity, High palate OMIM:300558
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Delayed social development, Dystonia, Impaired social interactions, Spastic at... ORPHA:300570
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... ORPHA:289266
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity OMIM:615010
Microphthalmia-Brain Atrophy Syndrome
Multifocal seizures, Corpus callosum atrophy, Dilation of lateral ventricles, Tongue thrusting, F... ORPHA:77299
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, A... OMIM:603472
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Coffin-Siris Syndrome 7
Short philtrum, Macrotia, Recurrent otitis media, Wide mouth, Low-set ears, Posteriorly rotated e... OMIM:618027
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Choreoathetosis, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity OMIM:261640
Infantile Neuroaxonal Dystrophy
Dystonia, Diffuse axonal swelling, Drooling, Gait disturbance, Abnormal pyramidal sign, Spastic t... ORPHA:35069
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia, Parkinso... OMIM:300894
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Chorea, Ataxia, Parkinsonism, Dysmetria, Babinski sign OMIM:618093
Benign Schwannoma
Abnormal cranial nerve morphology, Vertigo, Abnormality of peripheral nervous system electrophysi... ORPHA:252164
Metachromatic Leukodystrophy, Adult Form
Dystonia, Clumsiness, Orthostatic hypotension due to autonomic dysfunction, Bilateral sensorineur... ORPHA:309271
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Spastic paraparesis, Gait disturbance, Sensorineural h... ORPHA:101076
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Abnormal pons morphology, Aggressive behavior, Hyperactivity ORPHA:85327
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Decreased motor nerve conduction velocity, Tremor, Spastic paraparesis ORPHA:101077
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Torticol... ORPHA:397946
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Long philtrum, Short philtrum, Truncal ataxia, Drooling, Downturned corners of mouth, Thin upper ... OMIM:619121
X-Linked Intellectual Disability, Najm Type
Long philtrum, Macrotia, Gait disturbance, Seizure, Cerebral cortical atrophy, Sensorineural hear... ORPHA:163937
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Abnormal social behavior, Aggressive behavior, Hyperactivity ORPHA:101039
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Narrow mouth, Pain insensitivity, High palate, Rigidity, Macrotia, Chorea, Poor eye contact, Atax... OMIM:300260
Cleft Lip/Palate
Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary lateral incisors, Abnormality of de... ORPHA:199306
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Spasticity, Oral cleft, Seizure, Hearing impairment, Hyperactivity, Broad-based gait ORPHA:457260
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Dental crowding, Seizure, Stereotypy, Exaggerated median tongue furrow, Optic atro... ORPHA:313892
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... ORPHA:363654
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrotia, Seizure, Increased overbite, Stereotypy, Hyperactivity, Attention deficit hyperactivity... OMIM:618504
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Angelman Syndrome
Atonic seizure, Cerebral cortical atrophy, Hyperactivity, Poor eye contact, Ataxia, Optic disc pa... ORPHA:72
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Developmental And Epileptic Encephalopathy 87
Hypsarrhythmia, Hypertonia, Cerebral atrophy, Wide mouth, Seizure, Infantile spasms, U-Shaped upp... OMIM:618916
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:33445
Urocanic Aciduria
Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Cockayne Syndrome Type 1
Enamel hypoplasia, Tremor, Delayed eruption of primary teeth, Macrotia, Hypoplasia of the primary... ORPHA:90321
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Spastic diplegia, Ankle clonus, Seizure, Opisthot... ORPHA:206436
Coffin-Siris Syndrome 6
Short philtrum, Conductive hearing impairment, Low-set, posteriorly rotated ears, Tics, Deep phil... OMIM:617808
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Abnormal pyramidal sign, Incoordination, Ataxia OMIM:614947
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Head titubation, Seizure, Absent brainstem auditory responses, Spastic tetr... ORPHA:3240
Bilateral Polymicrogyria
Pseudobulbar paralysis, Drooling, Difficulty in tongue movements, Spastic hemiparesis, Focal-onse... ORPHA:268940
4Q21 Microdeletion Syndrome
Tremor, Thin vermilion border, Short philtrum, Downturned corners of mouth, Abnormality of the de... ORPHA:238750
Myopathy, Spheroid Body
Tremor OMIM:182920
5Q14.3 Microdeletion Syndrome
Short philtrum, Open mouth, Frontal cortical atrophy, Seizure, Optic nerve hypoplasia, Stereotypy ORPHA:228384
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Limb dysmetria, Chorea, Abnormal pyramidal sign, Bradykinesia, Parkin... OMIM:213600
48,Xxyy Syndrome
Open bite, Delayed eruption of teeth, Tremor, Carious teeth, Abnormal dental enamel morphology, T... ORPHA:10
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Neurofibrillary tangles, Apathy, Frontotemporal dementia, Lewy bodies, Cerebral cortical... OMIM:607485
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Seizure, Hearing impairment, Cleft upper lip, Cleft palate, Bifid uvula, Broad-bas... OMIM:300958
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Tongue fasciculations, Myoclonus, Fasciculations, Frequent falls OMIM:159950
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Cleft lip, Cleft palate OMIM:616898
Cerebral Creatine Deficiency Syndrome 1
Impaired social interactions, Dystonia, Gait disturbance, Aganglionic megacolon, Seizure, Poor ha... OMIM:300352
Huntington Disease-Like 2
Chorea, Rigidity, Action tremor, Bradykinesia OMIM:606438
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Cerebral cortical atrophy, Cerebella... OMIM:614559
Proximal 16P11.2 Microdeletion Syndrome
Impaired social interactions, Dystonia, Speech apraxia, Paroxysmal dyskinesia, Arnold-Chiari type... ORPHA:261197
3P25.3 Microdeletion Syndrome
Short philtrum, Downturned corners of mouth, Deep philtrum, Ataxia, Abnormality of the outer ear,... ORPHA:435638
Snijders Blok-Campeau Syndrome
Speech apraxia, Abnormality of the dentition, Low-set ears, Unsteady gait, Stereotypy, High, narr... OMIM:618205
11Q22.2Q22.3 Microdeletion Syndrome
Drooling, Poor eye contact, Abnormal social behavior, Low-set ears, Posteriorly rotated ears, Thi... ORPHA:444002
Optic Atrophy-Intellectual Disability Syndrome
Seizure, Hearing impairment, Protruding ear, Optic nerve hypoplasia, Abnormality of the helix, Re... ORPHA:401777
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Myoclonus, Intention tremor OMIM:254900
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior OMIM:618010
Intellectual Disability, Birk-Barel Type
Short philtrum, Fatiguable weakness of proximal limb muscles, Fatigable weakness of skeletal musc... ORPHA:166108
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Oculomotor apraxia... OMIM:617145
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Seizure, Anxiety, Stereotypy, Microcephaly OMIM:618906
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Hypoplastic helices, Open mouth, Downturned corners of mouth, Recurrent otitis ... ORPHA:391372
Rubinstein-Taybi Syndrome 2
Carious teeth, Posterior helix pit, Narrow palate, Intestinal malrotation, Increased overbite, Hy... OMIM:613684
Cerebrotendinous Xanthomatosis
Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus, Global brain atrophy, ... ORPHA:909
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Chorea, Bilateral tonic-clonic seizure, Focal tonic seizure, Progressive c... ORPHA:485350
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Impaired pain sensation, Abnormality of extrapyramidal ... ORPHA:500180
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Neurogenic bladder, Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Gene... ORPHA:496641
Mental Retardation, Autosomal Dominant 40
Short philtrum, Gait ataxia, Open mouth, Everted lower lip vermilion, Tented upper lip vermilion,... OMIM:616579
Early-Onset Schizophrenia
Shyness, Abnormal emotion/affect behavior, Diminished motivation, Anhedonia, Emotional lability, ... ORPHA:96369
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Aggressive behavior, Cerebellar vermis atrophy, Hyperactivity, Mood swings OMIM:300354
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
47,Xyy Syndrome
Impaired social interactions, Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Hyperact... ORPHA:8
White-Sutton Syndrome
Short philtrum, Incoordination, Febrile seizure (within the age range of 3 months to 6 years), Na... ORPHA:468678
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Abnormal pyramidal sign, Myoclonus ORPHA:139485
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, EEG with frontal sharp slow waves, Hypsarrhythmia, Global brain atrophy, Poor ... ORPHA:457351
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Progressive extrapyramidal movement disorder, Abnormality of extra... ORPHA:382
Distal Monosomy 10Q
Cochlear malformation, High palate, Poor fine motor coordination, Oculomotor apraxia, Smooth phil... ORPHA:96148
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Gomez-Lopez-Hernandez Syndrome
Rhombencephalosynapsis, Self-injurious behavior, Cerebellar vermis hypoplasia, Hypertonia, Ataxia... OMIM:601853
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Low frustration tolerance, Stereotypy, Arnold-Chiari malformation, Attention de... OMIM:619293
Rett Syndrome, Congenital Variant
Impaired social interactions, Dystonia, Apraxia, Drooling, Chorea, Poor eye contact, Thin upper l... OMIM:613454
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Ataxia, Bradykinesia, D... OMIM:615157
Leukodystrophy, Hypomyelinating, 6
Tremor, Rigidity, Ataxia, Choreoathetosis, Spasticity OMIM:612438
Ck Syndrome
Dental crowding, Posteriorly rotated ears, Seizure, Hyperactivity, High palate ORPHA:251383
Lopes-Maciel-Rodan Syndrome
Tremor, Hypertonia, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Spasticity OMIM:617435
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Hyperactivity OMIM:615516
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Hand tremor, Vocal tremor ORPHA:420485
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Rett Syndrome
Limb apraxia, Inability to walk, Dystonia, Difficulty walking, Gait disturbance, Abnormal autonom... ORPHA:778
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Bilateral tonic-clonic seizure, Anxiety, Focal hyperkinetic seizure, Noctu... ORPHA:98784
Progressive Supranuclear Palsy
Tremor, Memory impairment, Dementia, Blepharospasm, Bradykinesia, Cerebral cortical atrophy, Cogn... ORPHA:683
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Cerebral atr... ORPHA:363400
Mental Retardation, Autosomal Dominant 34
Drooling, Smooth philtrum, Bilateral tonic-clonic seizure, Hearing impairment, Stereotypy, Widely... OMIM:616351
Primary Dystonia, Dyt2 Type
Involuntary movements, Tremor, Blepharospasm, Torticollis ORPHA:99657
Arthrogryposis, Distal, Type 2A
Pursed lips, Long philtrum, Narrow mouth, Dental crowding, Seizure, Hearing impairment, Abnormal ... OMIM:193700
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Oculomotor apraxi... OMIM:183090
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia ORPHA:240085
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Phenylketonuria
Self-mutilation, Aggressive behavior, Irritability, Anxiety, Hyperactivity, Attention deficit hyp... OMIM:261600
Pelizaeus-Merzbacher Disease, Classic Form
Abnormality of extrapyramidal motor function, Head tremor, Abnormal pyramidal sign, Spasticity, S... ORPHA:280219
Cystathioninuria
Tremor ORPHA:212
Neurofibromatosis, Type Ii
Vertigo, Bilateral vestibular Schwannoma, Ataxia, Seizure, Occasional neurofibromas, Hearing impa... OMIM:101000
Xq21 Microdeletion Syndrome
Dysdiadochokinesis, Gait ataxia, Stapes ankylosis, Conductive hearing impairment, Ataxia, Ankle c... ORPHA:1435
Megalocornea-Intellectual Disability Syndrome
Short philtrum, Open mouth, Everted lower lip vermilion, Ataxia, Seizure, Sensorineural hearing i... ORPHA:2479
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Spastic paraparesis, Bradykinesia, Parkinsonism, Rigidity ORPHA:329284
Ck Syndrome
Dental crowding, Posteriorly rotated ears, Seizure, Hyperactivity, High palate OMIM:300831
Hyperphosphatasia With Mental Retardation Syndrome 6
Thickened helices, EEG with multifocal slow activity, Wide mouth, Seizure, Hyperactivity, High pa... OMIM:616809
Inverted Duplicated Chromosome 15 Syndrome
Short philtrum, Drooling, Low-set, posteriorly rotated ears, Seizure, Stereotypy, Hyperactivity, ... ORPHA:3306
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Abnormal social behavior, Abnormal pyramidal sign, Cerebellar hypoplasia, At... ORPHA:314647
Short Stature, Developmental Delay, And Congenital Heart Defects
Stereotypy, Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:617044
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysmetria OMIM:614831
Luscan-Lumish Syndrome
Shyness, Aggressive behavior, Slurred speech, Anxiety, Arnold-Chiari malformation OMIM:616831
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Conductive hearing impairment, Intestinal malrotation, Cupped ear, Cle... OMIM:113650
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Blepharospasm, Torticollis OMIM:224500
X-Linked Intellectual Disability, Cantagrel Type
Hypoplasia of the corpus callosum, Tetraparesis, Seizure, Cerebral cortical atrophy, Stereotypy ORPHA:85277
Chronic Bilirubin Encephalopathy
Hypertonia, Seizure, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Cereb... ORPHA:529808
Helsmoortel-Van Der Aa Syndrome
Long philtrum, Advanced eruption of teeth, Low-set, posteriorly rotated ears, Everted lower lip v... OMIM:615873
Acute Bilirubin Encephalopathy
Hypertonia, Seizure, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Cereb... ORPHA:529799
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Dysmetria OMIM:610185
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Abnormality of extrapyramidal motor function, Progressive cerebellar ataxia,... ORPHA:98773
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Macroglossia, Incoordination, Spastic paraparesis, Open mouth, Macrotia, Downtu... ORPHA:369891
Argininemia
Spastic paraparesis, Progressive spastic quadriplegia, Cerebellar atrophy, Spastic gait, Irritabi... OMIM:207800
Familial Dyskinesia And Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Myoclonus ORPHA:324588
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Para... OMIM:606693
Tick-Borne Encephalitis
Tremor, Abnormal cranial nerve morphology, Vertigo, Fatigable weakness of respiratory muscles, In... ORPHA:297
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Anxiety, Limb myoclonus, Attention deficit hyperactivity disorder ORPHA:64280
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Hypertonia, Hemiballismus, Head titubation,... OMIM:618877
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Oculomotor apraxia, EEG abnormality, Dysmetria, Spasticity ORPHA:529665
Crigler-Najjar Syndrome Type 1
Tremor ORPHA:79234
22Q11.2 Duplication Syndrome
Smooth philtrum, Seizure, Hearing impairment, Stereotypy, Cleft palate, Anterior creases of earlo... ORPHA:1727
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Emotional lability, Seizure, Anxiety, Stereotypy, Cognitive impairment, Microcephaly, Par... ORPHA:927
Dilated Cardiomyopathy With Ataxia
Dystonia, Ataxia, Action tremor, Seizure, Lower limb spasticity, Bilateral sensorineural hearing ... ORPHA:66634
Mental Retardation, Autosomal Dominant 43
Seizure, Cerebral atrophy, Narrow mouth, Hyperactivity OMIM:616977
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Parkinsonism, Hemiparesis, Bradykinesia ORPHA:306669
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dysmetria, Spasticity ORPHA:1170
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Hoffmann sign, Apraxia, Global brain atrophy, Difficulty walking, Gait disturb... ORPHA:139396
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Multifocal seizures, Dystonia, Incoordination, Generalized tonic seizure, ... ORPHA:480864
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Drooling, Hyperactivity, Gait imbalance, Wide mouth, Ataxia, Seizure, Protruding tongue, ... ORPHA:98794
Spinocerebellar Ataxia 8