Gene Summary

Name:
protocadherin 15
Synonyms:
Gm9815,  roda,  nmf19,  Ush1f

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased bone mineral content Pcdh15em1(IMPC)Wtsi HOM Early adult 9.15×10-06

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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.

Legacy Phenotype Associated Images

Human diseases caused by Pcdh15 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 Pcdh15 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Pcdh15 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Autosomal Dominant Focal Dystonia, Dyt25 Type
Torticollis, Axial dystonia, Lingual dystonia, Craniofacial dystonia, Limb dystonia, Focal dyston... ORPHA:329466
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Autism, Susceptibility To, X-Linked 4
Impulsivity, Motor tics, Hypotonia, Generalized hypotonia, Attention deficit hyperactivity disord... OMIM:300830
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Dystonia 25
Laryngeal dystonia, Lingual dystonia, Torticollis, Limb dystonia OMIM:615073
Dystonia 30
Oromandibular dystonia, Torticollis, Writer's cramp, Leg dystonia, Compulsive behaviors, Impulsiv... OMIM:619291
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Spastic paraplegia, Difficulty walking, Laryngeal dystonia, Dystonia OMIM:619681
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Dystonia 4, Torsion, Autosomal Dominant
Generalized dystonia, Torticollis, Torsion dystonia, Limb dystonia, Gait ataxia, Dysphagia, Hemid... OMIM:128101
Primary Dystonia, Dyt17 Type
Generalized dystonia, Craniofacial dystonia, Torticollis ORPHA:370103
Dystonia 22, Adult-Onset
Torticollis, Retrocollis, Gait disturbance, Focal dystonia, Upper limb postural tremor OMIM:620456
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Dystonia With Cerebellar Atrophy
Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Dystonia, Dysphagia OMIM:611694
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language
Attention deficit hyperactivity disorder, Inability to walk, Hypotonia, Aggressive behavior OMIM:620038
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300425
Deafness, Autosomal Recessive 109
Absent vestibular function, Abnormal semicircular canal morphology, Congenital sensorineural hear... OMIM:618013
Dystonia 6, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Lingual dystonia, Limb dys... OMIM:602629
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Dystonia 17, Torsion, Autosomal Recessive
Focal dystonia, Torticollis OMIM:612406
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Spasticity, Impulsivity, Gait ataxia, Rigidity, Dystonia, Dysphagia OMIM:620448
Paroxysmal Nonkinesigenic Dyskinesia 1
Dysphagia, Torticollis, Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:118800
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Action tremor, Focal dystoni... ORPHA:98807
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Dystonia 32
Laryngeal dystonia, Dysphagia, Torticollis, Limb dystonia OMIM:619637
Ataxia, Sensory, 1, Autosomal Dominant
Abnormal vestibulo-ocular reflex, Gait instability, worse in the dark, Impaired distal propriocep... OMIM:608984
Dystonia 33
Axial dystonia, Spasticity, Limb dystonia, Axial hypotonia, Dystonia OMIM:619687
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity, Bruxism, Aggressive behavior OMIM:615493
Autism
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:209850
Autism, Susceptibility To, 8
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:607373
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity, Bruxism, Aggressive behavior ORPHA:356996
Dystonia 31
Difficulty walking, Leg dystonia, Writer's cramp, Craniofacial dystonia, Arm dystonia, Dysphagia,... OMIM:619565
Deafness, Autosomal Recessive 104
Positive Romberg sign, Prelingual sensorineural hearing impairment, Abnormal vestibular function,... OMIM:616515
Parasomnia, Sleep Bruxism Type
Bruxism, Myoclonus OMIM:606840
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Ataxia, Progressive sensorineural hearing impairment ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Spastic gait, Hypertonia, Cogwheel rigidity, Dystonia, Attention deficit hyperactivity disorder OMIM:618284
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Dystonia, Focal, Task-Specific
Writer's cramp OMIM:611284
Dystonia 35, Childhood-Onset
Dystonia OMIM:619921
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Primary Dystonia, Dyt21 Type
Torticollis, Paroxysmal dystonia, Axial dystonia, Blepharospasm, Limb dystonia, Focal dystonia, D... ORPHA:306734
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Usher Syndrome, Type Id
Hearing impairment, Abnormal vestibular function OMIM:601067
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Dystonia OMIM:620245
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Compulsive behaviors, Addictive alcohol use, Hypotonia OMIM:159900
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Striatonigral Degeneration, Childhood-Onset
Hypertonia, Steppage gait, Craniofacial dystonia, Dystonia, Loss of ambulation, Unsteady gait, Hy... OMIM:617054
Megalencephalic Leukoencephalopathy With Subcortical Cysts 3
Limb ataxia, Lower limb spasticity, Spasticity, Rigidity, Dystonia, Loss of ambulation, Upper lim... OMIM:620447
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Motor stereotypy, Self-injurious behavior, Choreoathetosis, Spastic diplegia... OMIM:617270
Primary Dystonia, Dyt6 Type
Torticollis, Lingual dystonia, Craniofacial dystonia, Blepharospasm, Limb dystonia, Dystonia, Gen... ORPHA:98806
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... ORPHA:87884
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Progressive cerebellar ataxia, Sensorineural hearing impairment, Dysdiadochokinesi... ORPHA:504476
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Motor ster... OMIM:608636
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy OMIM:606053
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Dystonia 23
Torticollis, Writer's cramp, Axial dystonia, Gait disturbance, Head tremor, Limb dystonia OMIM:614860
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Limb ataxia, Decreased distal sensory nerve action potential, Hearing abnormality, Impaired pain ... OMIM:614575
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Hypertonia, Oculogyric crisis, Limb hypertonia, Broad-based gait, Axial hypotonia, Dystonia, Gene... OMIM:617384
Autosomal Recessive Spastic Paraplegia Type 56
Spastic gait, Tip-toe gait, Spastic paraplegia, Dystonia, Unsteady gait ORPHA:320411
Spinocerebellar Ataxia 6
Abnormal vestibulo-ocular reflex, Progressive cerebellar ataxia, Vertigo, Truncal ataxia, Cerebel... OMIM:183086
Spastic Paraplegia 72A, Autosomal Dominant
Spastic gait, Babinski sign, Tip-toe gait, Hoffmann sign, Spasticity, Impaired vibration sensatio... OMIM:615625
Autosomal Recessive Spastic Paraplegia Type 27
Babinski sign, Impaired vibration sensation at ankles, Sensorineural hearing impairment, Dysdiado... ORPHA:101007
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Lower limb spasticity, Hypotonia, Attention deficit hyperactivity disorder, Ag... OMIM:619639
Myoclonus-Dystonia Syndrome
Compulsive behaviors, Dystonia, Torticollis, Writer's cramp ORPHA:36899
Spastic Ataxia 1, Autosomal Dominant
Gait disturbance, Spastic paraplegia, Dystonia, Dysphagia, Spastic ataxia OMIM:108600
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Tip-toe gait, Spastic paraplegia, Dystonia, Unsteady gait OMIM:615030
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Unsteady gait, Ataxia, Dysphagia OMIM:615945
Friedreich Ataxia
Optic atrophy, Limb ataxia, Impaired proprioception, Gait imbalance, Inability to walk, Falls, Ch... ORPHA:95
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment, Ataxia OMIM:136600
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus, Abnormal vestibular fu... OMIM:607453
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction
Spasticity, Dystonia, Spastic tetraparesis, Gait disturbance OMIM:620515
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus, Abnormal vestibular fu... OMIM:620280
Striatonigral Degeneration, Infantile
Spasticity, Choreoathetosis, Dystonia, Dysphagia OMIM:271930
Dystonia 15, Myoclonic
Dystonia, Writer's cramp OMIM:607488
Sandhoff Disease, Adult Form
Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia, Dysphagia ORPHA:309169
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Akinesia, Cerebellar cortical atrophy, Abnormal cranial nerve m... ORPHA:247234
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Spinocerebellar Ataxia Type 23
Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Impaired dist... ORPHA:101108
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Tremor, Gait disturbance, Dystonia, Ataxia OMIM:614561
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Paroxysmal dyskinesia, Falls, Chorea, Inappropriate laughter, Ataxia, Motor stereotypy, Poor coor... OMIM:619150
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Athetosis, Axial hypotonia, Dystonia, Ataxia, Restlessness OMIM:615159
Spinocerebellar Ataxia 27A
Abnormal vestibulo-ocular reflex, Limb ataxia, Cerebellar atrophy, Gait ataxia, Impaired vibrator... OMIM:193003
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300495
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Spasticity, Compulsive behaviors, Phonic tics, Dystonia, Unsteady gait, Aggressive... OMIM:301107
Spastic Paraplegia 87, Autosomal Recessive
Spastic gait, Upper limb spasticity, Dystonia, Lower limb spasticity OMIM:619966
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Deafness, Autosomal Recessive 103
Sensorineural hearing impairment, Abnormal vestibular function, Vestibular areflexia OMIM:616042
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria, Aggressive behavior OMIM:276880
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Aggressive behavior, Motor stereotypy, Involuntary movements OMIM:617171
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Spinocerebellar Ataxia Type 11
Difficulty walking, Progressive cerebellar ataxia, Gait imbalance, Dystonia, Dysphagia ORPHA:98767
Dystonia 16
Torticollis, Limb dystonia, Unsteady gait, Dysphagia, Postural tremor ORPHA:210571
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Generali... ORPHA:99657
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity, Dysphagia ORPHA:228169
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
N-Acetylaspartate Deficiency
Broad-based gait, Truncal ataxia, Unsteady gait, Motor stereotypy, Self-mutilation OMIM:614063
Ravine Syndrome
Anorexia, Atrophy/Degeneration affecting the brainstem, Spasticity, Abnormal auditory evoked pote... ORPHA:99852
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Tremor, Axial hypotonia, Dystonia, Ataxia OMIM:618425
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Lower limb spasticity, Sensorineural hearing impairment, Abnormal auditory ev... ORPHA:320401
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Dystonia 22, Juvenile-Onset
Oromandibular dystonia, Torticollis, Lower limb spasticity, Dysdiadochokinesis, Intention tremor,... OMIM:620453
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior OMIM:239500
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal audi... OMIM:601382
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy OMIM:618709
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Rigidity, Difficulty walking, Dystonia OMIM:619661
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Vestibulocochlear Dysfunction, Progressive
Progressive hearing impairment, Tinnitus, Vestibular areflexia OMIM:193005
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Tremor, Rigidity, Dystonia, Ataxia ORPHA:401901
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Spastic tetraplegia, Dystonia, Inability to walk OMIM:618646
Spinocerebellar Ataxia 31
Limb ataxia, Sensorineural hearing impairment, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:117210
Deafness, X-Linked 5, With Peripheral Neuropathy
Distal sensory impairment, Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Unst... OMIM:300614
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Attention deficit hyperactivity disorder, Dysmetria OMIM:619191
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Head titubation, Diffuse cerebral atrophy, Vestibular arefle... ORPHA:3240
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Ataxia, Unsteady gai... OMIM:616053
Developmental And Epileptic Encephalopathy 7
Dystonia, Spastic tetraparesis, Hypotonia OMIM:613720
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Stereotypical hand wringing, Axial hypotonia, Dystonia, Self-injurious behavior OMIM:618760
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Intentio... OMIM:613908
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Torsion dystonia, Tremor, Blepharospasm, Dysphagia OMIM:224500
Neurodegeneration With Brain Iron Accumulation 6
Tip-toe gait, Oromandibular dystonia, Compulsive behaviors, Gait disturbance, Rigidity, Dystonia,... OMIM:615643
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Gait ... ORPHA:276193
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Writer's cramp, Paroxysmal dystonia ORPHA:163727
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Babinski sign, Inability to walk, Hyperactivity, Spasticity, Ankle clonus, Spastic tetraplegia OMIM:616657
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Agitation, Tremor, Compulsive behaviors, Axial hypotonia, Dystonia OMIM:619651
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Torsion dystonia, Dystonia, Ataxia, Choreoathetosis, Aggressive behavior ORPHA:98811
Usher Syndrome Type 1
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortic... ORPHA:231169
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Ataxia, Hypotonia, Aggressive behavior OMIM:620270
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Limb ataxia, Hypertonia, Difficulty walking, Spastic dysarthria, Lower limb spastic... ORPHA:251282
Usher Syndrome Type 3
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology, Ataxia ORPHA:231183
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Chorea, Athetosis, Abnormal head movements, Ataxia, Self-injurious behavior, Aggre... ORPHA:382
Dystonia 12
Torticollis, Tremor, Dystonia, Unsteady gait, Dysphagia OMIM:128235
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia OMIM:615034
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Spasticity, Dystonia, Hypotonia, Motor stereotypy, Self-injurious behavior OMIM:617820
Usher Syndrome, Type If
Impaired tandem gait, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:602083
Stxbp1-Related Encephalopathy
Inability to walk, Hyperactivity, Spasticity, Tremor, Dystonia, Ataxia, Hypotonia, Spastic tetrap... ORPHA:599373
Spinocerebellar Ataxia 14
Progressive cerebellar ataxia, Gait ataxia, Focal dystonia, Dysphagia, Attention deficit hyperact... OMIM:605361
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Severe temper tantrums, Hemidystonia, Spastic tetraparesis OMIM:619052
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Difficulty walking, Progressive cerebellar ataxia, Spinocerebellar atrophy, Impair... ORPHA:95433
Chromosome Xq21 Deletion Syndrome
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... OMIM:303110
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy, Hand tremor OMIM:617862
Myoclonus, Familial, 2
Dystonia OMIM:618364
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Axial hypotonia, Dystonia, Loss of ambulation, Ataxia, Hypotonia, ... OMIM:617916
Pendred Syndrome
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation OMIM:274600
Dystonia 37, Early-Onset, With Striatal Lesions
Leg dystonia, Loss of ambulation, Ataxia, Hypotonia, Dysphagia, Generalized dystonia, Choreoathet... OMIM:620427
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Spasticity, Tremor, Compulsive behaviors, Limb dystonia, Gait disturbance... ORPHA:216873
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
16P11.2P12.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Dystonia ORPHA:261204
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Tremor, Spastic tetraparesis, Motor stereotypy, Aggressive behavior OMIM:619470
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Ataxia, Dysmetria, Truncal ataxia OMIM:617584
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Inability to walk, Hypsarrhythmia, Motor stereotypy, Spastic diplegia OMIM:617830
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Spasticity, Tremor, Dystonia, Ataxia OMIM:615924
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Re... OMIM:620482
Spinocerebellar Ataxia Type 28
Limb ataxia, Spasticity, Limb dystonia, Head tremor, Gait ataxia, Rigidity, Dystonia, Kinetic tremor ORPHA:101109
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Paroxysmal Kinesigenic Dyskinesia
Athetosis, Writer's cramp, Dystonia ORPHA:98809
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Gait disturbance, Abnormal amplit... OMIM:125250
Dystonia 7, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Hand tremor OMIM:602124
Myoclonus, Cerebellar Ataxia, And Deafness
Hearing impairment, Ataxia, Myoclonus OMIM:159800
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Dystonia OMIM:104290
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Low-set ears, Gait ataxia, Macrotia, Posteriorly rotated ears, Motor stereotypy, A... OMIM:609425
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spastic dysarthria, Progressive cerebellar ataxia, Spasticity, Gait ataxia, Dystonia, Spastic ata... ORPHA:314603
Hartnup Disorder
Hyperactivity, Hypertonia, Episodic ataxia, Attention deficit hyperactivity disorder OMIM:234500
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity OMIM:617113
Late-Infantile/Juvenile Krabbe Disease
Tetraplegia, Ataxia, Acroparesthesia, Clumsiness, Hemiplegia, Decreased nerve conduction velocity... ORPHA:206443
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Infantile muscular hypotonia, Dystonia, Ataxia, Restlessness, Spastic tetraplegia ORPHA:263410
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Resting tremor, Craniofacial dystonia, Limb dystonia, Gait ataxia, Dysphagia, Genera... ORPHA:71517
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Ataxia, Torticollis, Abnormal head movements ORPHA:71518
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Dystonia, Generalized hypotonia OMIM:616763
Lichtenstein-Knorr Syndrome
Limb ataxia, Vestibular hypofunction, Sensorineural hearing impairment, Dysdiadochokinesis, Cereb... OMIM:616291
Segawa Syndrome, Autosomal Recessive
Tremor, Limb dystonia, Gait ataxia, Axial hypotonia, Rigidity OMIM:605407
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Dystonia, Hypotonia, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619157
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Babinski sign, Gait disturbance, Rigidity, Disinhibition, Restlessness, M... OMIM:600795
Spastic Paraplegia 90A, Autosomal Dominant
Spastic gait, Appendicular spasticity, Axial hypotonia, Dystonia, Dysphagia OMIM:620416
Dystonia, Dopa-Responsive
Writer's cramp, Torticollis, Resting tremor, Dysdiadochokinesis, Spasticity, Cogwheel rigidity, G... OMIM:128230
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Brain atrophy, Spasticity, Tremor, Low-set ears, Motor stereoty... OMIM:618718
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Dystonia, Dysphagia, Hypotonia, Choreoathetosis OMIM:261630
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Distal sensory impairment, Impaired distal proprioception, S... OMIM:601455
Usher Syndrome
Sensorineural hearing impairment, Abnormal vestibular function, Cerebral cortical atrophy, Tinnit... ORPHA:886
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Dystonia, Loss of ambulation, Ataxia, Hypotonia, Dysphagia, Choreoathetosis, Dysmetria OMIM:618088
Developmental And Epileptic Encephalopathy 92
Difficulty walking, Inability to walk, Spasticity, Dystonia, Ataxia OMIM:617829
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Ataxia, Dysphagia ORPHA:1171
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
Oxoglutarate Dehydrogenase Deficiency
Falls, Gait ataxia, Rigidity, Dystonia, Unsteady gait, Hypotonia, Dysmetria OMIM:203740
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Axial hypotonia, Tremor, Dystonia OMIM:619647
Spinocerebellar Ataxia, Autosomal Recessive 29
Inability to walk, Lower limb spasticity, Axial hypotonia, Ataxia, Hypotonia, Generalized dystonia OMIM:619389
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Truncal ataxia, Gait disturbance, Ataxia, Unsteady gait, Dysphagia ORPHA:284271
Parkinson Disease 19A, Juvenile-Onset
Pill-rolling tremor, Limb hypertonia, Spasticity, Shuffling gait, Rigidity, Dystonia, Loss of amb... OMIM:615528
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Truncal ataxia, Intention tremor, Unsteady gait, Ataxia, Abnormal pyramida... OMIM:616948
Spinocerebellar Ataxia 44
Spasticity, Dysdiadochokinesis, Frequent falls, Gait ataxia, Ataxia, Dysphagia, Dysmetria OMIM:617691
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Spasticity, Disinhibition, Dysphagia, Motor stereotypy OMIM:612069
Pendred Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... ORPHA:705
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Tremor, Gait disturbance, Gait ataxia, Rigidity, Hypotonia, Dys... OMIM:618090
Spastic Paraplegia 80, Autosomal Dominant
Limb ataxia, Lower limb spasticity, Gait disturbance, Spastic paraplegia, Upper limb spasticity, ... OMIM:618418
3-Methylglutaconic Aciduria Type 1
Spastic tetraparesis, Dystonia, Progressive cerebellar ataxia ORPHA:67046
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Hyperactivity, Abnormal pinna morphology, Tremor, Cerebral cortical atrophy, Ataxi... OMIM:300983
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Dy... OMIM:604326
Dentatorubral-Pallidoluysian Atrophy
Choreoathetosis, Ataxia, Dystonia OMIM:125370
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Unsteady gait, Spastic parap... ORPHA:423275
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hyperactivity, Hearing impairment, Motor stereotypy, Hypocholesterolem... OMIM:610883
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Attention deficit hype... OMIM:619725
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Restrictive behavior, Fasciculations, Abnormality of extrapyramidal motor... ORPHA:275864
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Spastic tetraplegia, Self-injurious behavior, Hypertonia, Motor stereotypy OMIM:615282
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Facial pals... OMIM:617519
Paroxysmal Non-Kinesigenic Dyskinesia
Rigidity, Choreoathetosis, Torticollis, Dystonia ORPHA:98810
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Axial hypotonia, Dystonia, Spastic tetraplegia OMIM:251280
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Limb hypertonia, Hyperactivity, Spasticity, Impulsivity, Gait ataxia, Infantil... ORPHA:500180
Infantile-Onset Spinocerebellar Ataxia
Hearing impairment, Optic atrophy, Ataxia, Abnormality of the autonomic nervous system ORPHA:1186
Dystonia 16
Retrocollis, Limb dystonia, Gait disturbance, Dysphagia, Generalized dystonia, Laryngeal dystonia... OMIM:612067
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Speech apraxia, Inflexible adherence to routines, Motor stereotypy, Attenti... OMIM:613670
Cerebellar Ataxia, Cayman Type
Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Dystonia, Ataxia, Hypotonia OMIM:601238
Autism, Susceptibility To, 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608049
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Impaired tactile sensation, Brain atrophy, Tremor, Low-set ears, Gait ataxia, Ataxia,... OMIM:619092
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy OMIM:618906
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Dystonia, Ataxia OMIM:619196
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Axial hypotonia, Spasticity, Choreoathetosis, Dystonia OMIM:614249
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Spasticity, Compulsive behaviors, Stereotypical hand wringing, Gait at... OMIM:618917
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Alternating Hemiplegia Of Childhood 2
Choreoathetosis, Ataxia, Dystonia OMIM:614820
Dystonia 26, Myoclonic
Laryngeal dystonia, Dystonia, Blepharospasm, Torticollis OMIM:616398
Spinocerebellar Ataxia, Autosomal Recessive 26
Limb ataxia, Oculomotor apraxia, Impaired distal proprioception, Positive Romberg sign, Dysdiadoc... OMIM:617633
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Difficulty walking, Inability to walk, Broad-based gait, Spasticity, Macrotia, Ataxi... OMIM:617695
Dystonia 28
Oromandibular dystonia, Leg dystonia, Torticollis, Arm dystonia, Attention deficit hyperactivity ... ORPHA:589618
Spinocerebellar Ataxia, Autosomal Recessive 17
Limb ataxia, Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Dystonia, Ataxia, U... OMIM:616127
Distal Deletion 3P
Abnormal vestibulo-ocular reflex, Hearing impairment, Low-set, posteriorly rotated ears ORPHA:1620
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Spasticity, Tremor, Gait ataxia, Axial hypotonia, Dystonia, Ataxia OMIM:607317
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Macrotia, Abnormal head movements, Self-biting OMIM:300624
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Baker-Gordon Syndrome
Hyperkinetic movements, Inability to walk, Athetoid cerebral palsy, Involuntary movements, Ataxia... OMIM:618218
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Difficulty walking, Lower limb spasticity, Truncal ataxia, Spasticity, Episodic ataxia, Gait dist... OMIM:614458
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Torticollis, Writer's cramp, Axial dystonia, Craniofacial dystonia, Head trem... ORPHA:420492
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Distal sensory im... OMIM:601596
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Parkinson Disease 15, Autosomal Recessive Early-Onset
Scissor gait, Lower limb spasticity, Tremor, Rigidity, Dystonia OMIM:260300
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor OMIM:314250
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, Loss of ambulation, Infantile... ORPHA:521406
Dystonia 1, Torsion, Autosomal Dominant
Hypertonia, Oromandibular dystonia, Inability to walk, Writer's cramp, Torticollis, Torsion dysto... OMIM:128100
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Sensorineural hearing impairment, Elevated circulating phytanic acid concentration, ... OMIM:266510
Spastic Paraplegia 90B, Autosomal Recessive
Axial hypotonia, Dystonia, Dysphagia, Appendicular spasticity OMIM:620417
Hemidystonia-Hemiatrophy Syndrome
Dystonia, Limb dystonia ORPHA:306741
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Choreoathetosis, Episodic ataxia, Dystonia ORPHA:53583
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Lower limb spasticity, Broad-based gait, Waddling gait, Dystonia, Ataxia, Gene... OMIM:616756
Juvenile Huntington Disease
Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Gait ataxia, Rigidity, Dystonia, ... ORPHA:248111
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Oculogyric crisis, Spasticity, Stereotypical hand wringing, Dystonia, Inapprop... OMIM:614254
Familial Dyskinesia And Facial Myokymia
Difficulty walking, Limb hypertonia, Resting tremor, Axial hypotonia, Dystonia ORPHA:324588
Raynaud-Claes Syndrome
Progressive cerebellar ataxia, Lower limb spasticity, Compulsive behaviors, Dystonia, Hypotonia, ... OMIM:300114
Episodic Kinesigenic Dyskinesia 2
Dystonia OMIM:611031
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Cerebral atrophy, Hyperkinetic movements, Inability to walk, Bruxism, Stereotypical hand wringing... OMIM:618497
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Dysdiadochokinesis, Tremor, Shuffling gait, Axial hypotonia, Dystonia, Ataxia,... OMIM:618049
Adult Krabbe Disease
Hoffmann sign, Acroparesthesia, Delayed brainstem auditory evoked response conduction time, Babin... ORPHA:206448
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Macrotia, Motor stereotypy, Aggressive behavior OMIM:615541
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Impaired proprioception, Decreased nerve conduction velocity, Steppage gait, Inabili... ORPHA:101085
Neurodegeneration With Brain Iron Accumulation 3
Writer's cramp, Spasticity, Tremor, Blepharospasm, Laryngeal dystonia, Rigidity, Dystonia, Ataxia... OMIM:606159
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Paroxysmal dystonia, Writer's cramp OMIM:608105
Spastic Paraplegia 53, Autosomal Recessive
Gait disturbance, Spastic paraplegia, Lower limb hypertonia, Dystonia, Upper limb hypertonia OMIM:614898
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Agitation, Spasticity, Tremor, Unsteady gait, Dysphagia, Motor stereoty... OMIM:617435
Mitochondrial Complex I Deficiency, Nuclear Type 23
Dystonia, Generalized hypotonia, Hypotonia OMIM:618244
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Sensorineural hearing impairment, Atrophy/Degeneration affecting the brainstem, Imp... ORPHA:99027
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormal middle ear morphology, Abnormal nerve conduction velocity, Hyperac... OMIM:182290
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Spasticity, Dystonia, Ataxia, Hypotonia OMIM:618276
Developmental And Epileptic Encephalopathy 69
Spastic tetraplegia, Dystonia, Axial hypotonia, Inability to walk OMIM:618285
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Sensorineural hearing impairment, Ataxia ORPHA:85297
Mitochondrial Complex I Deficiency, Nuclear Type 17
Gait disturbance, Rigidity, Dystonia, Ataxia, Hypotonia, Generalized dystonia OMIM:618239
Dystonia 21
Laryngeal dystonia, Blepharospasm, Torticollis OMIM:614588
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Hypertonia, Delayed brainstem auditory evoked response conduction time, Lower limb... OMIM:616881
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Abnormal pinna morphology, Gait disturbance, Stereotypical hand wr... OMIM:614104
Familial Infantile Bilateral Striatal Necrosis
Hypertonia, Spasticity, Spastic tetraparesis, Gait disturbance, Gait ataxia, Cogwheel rigidity, I... ORPHA:225154
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7
Dystonia, Hypotonia OMIM:620359
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Dysphagia OMIM:300857
Aicardi-Goutieres Syndrome 2
Spastic paraplegia, Dystonia OMIM:610181
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Motor stereotypy, Self-injurious behavior OMIM:619690
Atypical Rett Syndrome
Abnormal autonomic nervous system physiology, Gait ataxia, EEG abnormality, Bruxism, Pill-rolling... ORPHA:3095
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Glycine Encephalopathy 1
Hyperactivity, Impulsivity, Restlessness, Myoclonus, Aggressive behavior OMIM:605899
Leukodystrophy, Hypomyelinating, 14
Spasticity, Dystonia, Generalized hypotonia OMIM:617899
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Rigidity, Dystonia, Ataxia, Generalized hypotonia OMIM:617836
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Episodic Ataxia Type 4
Vertigo, Ataxia, Abnormal head movements ORPHA:79136
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Tremor, Neuromuscular dysphagia, Rigidity, Dystonia ORPHA:240085
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Head tremor, Dystonia, Impaired tandem gait, Hand tremor OMIM:619724
Developmental And Epileptic Encephalopathy 67
Athetosis, Recurrent hand flapping, Dystonia, Gait disturbance OMIM:618141
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait disturbance... OMIM:617145
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Limb ataxia, Torticollis, Truncal ataxia, Spasticity, Limb dystonia, Head titubation, Hypotonia OMIM:617560
Squalene Synthase Deficiency
Optic nerve hypoplasia, Increased circulating farnesol concentration, Low-set ears, Elevated circ... OMIM:618156
Spinocerebellar Ataxia Type 20
Isometric tremor, Tremor by anatomical site, Intention tremor, Gait ataxia, Upper limb postural t... ORPHA:101110
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Shuffling gait, Spastic tetraparesis, ... ORPHA:352649
Christianson Syndrome
Truncal ataxia, Neuronal loss in central nervous system, Cerebellar atrophy, Gait ataxia, Cerebra... ORPHA:85278
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Primary Dystonia, Dyt4 Type
Torticollis, Dysdiadochokinesis, Blepharospasm, Gait disturbance, Upper limb postural tremor, Dys... ORPHA:98805
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Inability to walk, Spasticity, Spastic tetraparesis, Axial hypotonia, Dystonia, Opisthotonus, Gen... OMIM:619653
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic gait, Lower limb spasticity, Spastic paraplegia, Dystonia, Ataxia OMIM:607565
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Truncal ataxia, Gait ataxia, Intention tremor, Infantile muscular hypotonia, Nonprogressive cereb... ORPHA:453521
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb ataxia, Hypertonia, Limb dystonia, Rigidity, Generalized dystonia OMIM:618824
Spinocerebellar Ataxia Type 6
Progressive cerebellar ataxia, Blepharospasm, Intention tremor, Gait ataxia, Choking episodes, Dy... ORPHA:98758
Mepan Syndrome
Axial dystonia, Spasticity, Craniofacial dystonia, Limb dystonia, Gait disturbance, Dystonia, Ata... ORPHA:508093
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Spastic gait, Impaired proprioception, Sensorineural hearing impairment, Elevated ... ORPHA:96180
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
7Q31 Microdeletion Syndrome
Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Torticollis, Hyperact... ORPHA:251061
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Rigidity, Dystonia OMIM:605909
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Resting tremor, Tremor, Shuffling gait, Gait disturbance, Gait ataxia, Focal... OMIM:600116
Partington Syndrome
Focal dystonia, Limb dystonia, Lower limb spasticity OMIM:309510
Leukodystrophy, Hypomyelinating, 25
Dystonia, Hypotonia, Gait ataxia OMIM:620243
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Ataxia, Dysphagia, Dysmetria OMIM:618093
Mitochondrial Myopathy With Lactic Acidosis
Tip-toe gait, Spasticity, Dystonia, Hypotonia, Dysmetria OMIM:251950
Hsd10 Disease
Frontotemporal cerebral atrophy, Optic atrophy, Postnatal growth retardation, Tremor, Gait distur... ORPHA:391417
X-Linked Dystonia-Parkinsonism
Difficulty walking, Resting tremor, Torsion dystonia, Progressive extrapyramidal muscular rigidit... ORPHA:53351
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Absent internal auditory canal, Gait disturbance, Profound sensorineural hearing impairment, Self... OMIM:620469
Leukoencephalopathy, Cystic, Without Megalencephaly
Spasticity, Athetosis, Ataxia, Dystonia OMIM:612951
Huntington Disease-Like 2
Dystonia, Gait disturbance ORPHA:98934
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Cerebral atrophy, Bruxism, Tremor, Bilateral sensorineural hearing impairment, Dys... OMIM:619422
Huntington Disease-Like 1
Jerky head movements, Chorea, Cerebellar atrophy, Gait disturbance, Gait ataxia, Cerebral cortica... ORPHA:157941
Xq28 (MECP2) duplication
Inability to walk, Progressive spasticity, Gait ataxia, Macrotia, Dysphagia, Motor stereotypy DECIPHER:45
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Macrotia, Hyperactivity OMIM:300928
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Increased cerebral lipofuscin, Hypocholesterolemia, Intention tremor OMIM:610539
Spinocerebellar Ataxia 21
Limb ataxia, Akinesia, Progressive cerebellar ataxia, Cogwheel rigidity, Gait ataxia, Intention t... OMIM:607454
Hyperlipoproteinemia, Type Ii, And Deafness
Hearing impairment, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglycer... OMIM:144300
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Severe Intellectual Disability And Progressive Spastic Paraplegia
Difficulty walking, Spastic dysarthria, Facial hypotonia, Spasticity, Waddling gait, Dystonia, Hy... ORPHA:280763
Spinocerebellar Ataxia 50
Apraxia, Chorea, Cerebellar vermis atrophy, Cerebellar atrophy, Head tremor, Hearing impairment, ... OMIM:620158
Leukodystrophy, Hypomyelinating, 16
Hypertonia, Broad-based gait, Shuffling gait, Gait ataxia, Intention tremor, Dystonia, Hypotonia,... OMIM:617964
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Multiple Mitochondrial Dysfunctions Syndrome 6
Inability to walk, Spasticity, Dystonia, Ataxia, Hypotonia, Dysmetria OMIM:617954
Leukodystrophy, Hypomyelinating, 5
Babinski sign, Delayed brainstem auditory evoked response conduction time, Truncal titubation, In... OMIM:610532
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Truncal ataxia, Gait disturbance, Ataxia, Dysphagia OMIM:614229
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Tremor, Gait disturbance, Rigidity, Dystonia, Postural tremor ORPHA:314632
Amyotrophic Lateral Sclerosis 2, Juvenile
Spastic gait, Tip-toe gait, Hypertonia, Difficulty walking, Spastic dysarthria, Lower limb spasti... OMIM:205100
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hypertonia, Agitation, Oculogyric crisis, Falls, Rigidity, Dystonia, Ataxia, Opisthotonus, Hypoto... ORPHA:13
Congenital Disorder Of Glycosylation, Type Il
Cerebral atrophy, Global brain atrophy, Cerebellar atrophy, Low-set ears, Hypoalbuminemia, Hypoch... OMIM:608776
Partington Syndrome
Lower limb spasticity, Limb dystonia, Gait disturbance ORPHA:94083
Pelizaeus-Merzbacher Disease, Classic Form
Difficulty walking, Spasticity, Athetosis, Spastic tetraparesis, Titubation, Head tremor, Axial h... ORPHA:280219
Pontocerebellar Hypoplasia, Type 2C
Dystonia OMIM:612390
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Pyruvate Dehydrogenase E2 Deficiency
Neonatal hypotonia, Paroxysmal dystonia, Dystonia, Ataxia, Hypotonia, Generalized dystonia, Chore... OMIM:245348
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Difficulty walking, Inability to walk, Oculogyric crisis, Tremor, Dystonia ORPHA:330050
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Hypsarrhythmia, Hearing impairment, Macrotia, Motor stereotypy OMIM:619877
Dystonia 9
Spastic paraplegia, Choreoathetosis, Episodic ataxia, Dystonia OMIM:601042
Intellectual Developmental Disorder, Autosomal Recessive 38
Neonatal hypotonia, Hyperactivity, Recurrent hand flapping, Unsteady gait, Generalized hypotonia,... OMIM:615516
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Falls, Spasticity, Axial hypotonia, Dystonia, Ataxia, Generalized hypotonia, Hypotonia OMIM:619224
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Athetosis, Tremor, Gait disturbance, Rigidity, Dystonia, Limb dysmetria OMIM:213600
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Spasticity, Dystonia, Ataxia, Spastic ataxia, Dysphagia, Spastic paraparesis,... OMIM:614487
Spinocerebellar Ataxia 17
Limb ataxia, Broad-based gait, Gait ataxia, Intention tremor, Rigidity, Dystonia, Ataxia, Dysphag... OMIM:607136
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Oculogyric crisis, Limb dystonia, Gait ataxia, Focal dystonia, Rigidity, At... ORPHA:101150
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Generalized hypotonia, Hypotonia, Aggressive behavior OMIM:248510
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Ataxia, Generalized hypotonia OMIM:618224
Syngap1-Related Developmental And Epileptic Encephalopathy
Obsessive-compulsive trait, Abnormality of pain sensation, Tremor, Anteverted ears, Recurrent han... ORPHA:544254
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Poor fine motor coordination, Attention deficit hyperactivity disorder OMIM:617182
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Limb dystonia, Ataxia, Hypotonia, Choreoathetosis OMIM:619054
Leber Optic Atrophy And Dystonia
Spasticity, Athetosis, Dystonia, Dysphagia OMIM:500001
Epilepsy With Eyelid Myoclonia
EEG with spike-wave complexes, Continuous spike and waves during slow sleep, Interictal epileptif... ORPHA:139431
Oromandibular Dystonia
Torticollis, Bruxism, Blepharospasm, Lingual dystonia, Limb dystonia, Dysphagia, Generalized dyst... ORPHA:93958
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Sensorineural hearing impairment, Brain atrophy, Tremor, Low-set ears, Attention d... OMIM:618342
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Hypotonia ORPHA:139406
Combined Oxidative Phosphorylation Deficiency 50
Generalized dystonia, Dysphagia OMIM:619025
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Tremor, Action tremor, Dystonia, Ataxia, Dysphagia, Aggressive behavior OMIM:619738
Spinocerebellar Ataxia Type 17
Torticollis, Writer's cramp, Spasticity, Blepharospasm, Gait disturbance, Rigidity, Dystonia, Ataxia ORPHA:98759
Manganese Poisoning
Hypertonia, Akinesia, Compulsive behaviors, Cogwheel rigidity, Gait disturbance, Dystonia, Inappr... ORPHA:306682
Spastic Paraplegia 26, Autosomal Recessive
Spastic gait, Tip-toe gait, Difficulty walking, Lower limb spasticity, Spastic paraplegia, Upper ... OMIM:609195
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Limb hypertonia, Tremor, Axial hypotonia, Rigidity, Dystonia, Ataxia, Dysphagia, Chor... OMIM:261640
Developmental And Epileptic Encephalopathy 17
Athetosis, Inability to walk, Dystonia OMIM:615473
3-Methylglutaconic Aciduria, Type I
Spasticity, Athetosis, Dystonia, Ataxia, Spastic tetraplegia, Self-mutilation OMIM:250950
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Developmental And Epileptic Encephalopathy 53
Spastic tetraplegia, Dystonia, Hypotonia OMIM:617389
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Gait ataxia, Ataxia, Unsteady... OMIM:609270
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Bruxism OMIM:300434
Parkinsonism-Dystonia 1, Infantile-Onset
Hypertonia, Oromandibular dystonia, Oculogyric crisis, Tremor, Limb dystonia, Cogwheel rigidity, ... OMIM:613135
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Abnormal fear-induced behavior, Lower limb spasticity, Broad-based gait, Resting tremor... ORPHA:3077
Leukodystrophy, Hypomyelinating, 6
Spasticity, Tremor, Axial hypotonia, Rigidity, Dystonia, Ataxia, Hypotonia, Choreoathetosis OMIM:612438
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... OMIM:617044
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia... OMIM:617302
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Bruxism, Tremor, Shuffling ga... OMIM:300055
Foxg1 Syndrome
Difficulty walking, Hyperkinetic movements, Inability to walk, Bruxism, Spasticity, Stereotypical... ORPHA:561854
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Episodic Ataxia, Type 9
Dystonia, Episodic ataxia OMIM:618924
Coasy Protein-Associated Neurodegeneration
Spastic paraparesis, Difficulty walking, Compulsive behaviors, Oromandibular dystonia ORPHA:397725
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Resting tremor, Blepharospasm, Rigidity, Postural tremor OMIM:606324
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Inappropriate behavior, Nail-biting, Hyperactivity, Slowed slurred speech, Attentio... OMIM:619827
Spastic Paraplegia 47, Autosomal Recessive
Neonatal hypotonia, Hypertonia, Inability to walk, Spasticity, Waddling gait, Spastic paraplegia,... OMIM:614066
Atypical Progressive Supranuclear Palsy Syndrome
Inappropriate behavior, Falls, Tremor by anatomical site, Freezing of gait, Extrapyramidal muscul... ORPHA:99750
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Hypsarrhythmia, Prominent ear helix, Occipital cortical atrophy, Motor stereot... ORPHA:411986
Choreoacanthocytosis
Progressive choreoathetosis, Tics, Dystonia, Disinhibition, Dysphagia, Self-mutilation of tongue ... OMIM:200150
Aicardi-Goutieres Syndrome 3
Spasticity, Dystonia, Hypotonia, Generalized hypotonia OMIM:610329
Neurodevelopmental Disorder With Dystonia And Seizures
Athetosis, Dystonia, Hypotonia, Spastic tetraplegia, Self-injurious behavior OMIM:619922
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Tremor, Rigidity, Dystonia, Dysphagia, Generalized hypotonia, Hypotonia, Choreoa... OMIM:233910
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Ataxia, Spastic diplegia OMIM:619065
Spinocerebellar Ataxia 28
Limb ataxia, Spasticity, Gait ataxia, Lower limb hypertonia, Dystonia OMIM:610246
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Rigidity, Dystonia, Spastic paraparesis, Aggressive behavior ORPHA:329284
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Optic atrophy, Difficulty walking, Broad-based gait, Spasticity, Gait ataxia, Dystonia, Motor ste... OMIM:617807
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Sensorineural hearing impairment, Brain atrophy, Abnormal auditory evoked poten... OMIM:619260
Developmental And Epileptic Encephalopathy 64
Inability to walk, Limb hypertonia, Paroxysmal dystonia, Chorea, Cerebral cortical atrophy, Macro... OMIM:618004
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Motor stereotypy, Attention deficit hyperactivity disorder, Aggres... OMIM:301029
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Limb hypertonia, Spasticity, Axial hypotonia, Dystonia, Ataxia, Choreoathetosis OMIM:615905
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ... OMIM:611584
Familial Paroxysmal Ataxia
Dystonia, Ataxia, Torticollis ORPHA:97
Ogden Syndrome
Cerebral atrophy, Postnatal growth retardation, Torticollis, Low-set ears, Shuffling gait, Macrot... ORPHA:276432
Dystonia-Deafness Syndrome 1
Leg dystonia, Oculogyric crisis, Loss of ambulation, Dysphagia, Generalized dystonia, Pseudobulba... OMIM:607371
Developmental And Epileptic Encephalopathy 27
Axial hypotonia, Spasticity, Dystonia, Hypotonia OMIM:616139
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Difficulty walking, Lower limb spasticity, Intention tremor, Lower limb hypertonia, Dystonia, Ata... ORPHA:438114
Leukodystrophy, Hypomyelinating, 9
Lower limb spasticity, Intention tremor, Axial hypotonia, Dystonia, Ataxia, Dysmetria, Pseudobulb... OMIM:616140
Juvenile Amyotrophic Lateral Sclerosis
Tip-toe gait, Hypertonia, Difficulty walking, Oromandibular dystonia, Inability to walk, Lower li... ORPHA:300605
Spinocerebellar Ataxia Type 2
Progressive cerebellar ataxia, Gait ataxia, Dystonia, Generalized hypotonia, Postural tremor, Kin... ORPHA:98756
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hypertonia, Inability to walk, Hyperactivity, Rigidity, Self-injurious behavior, Choreoathetosis,... OMIM:620023
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Difficulty walking, Lower limb spasticity, Dysdiadochokinesis, Spastic tetraparesis, Spastic para... OMIM:612319
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Hyperactivity, Chorea, Low-set ears, Waddling gait, Impulsivity, Gait ataxia, Short stature, Self... OMIM:620445
Neurodevelopmental Disorder With Involuntary Movements
Spasticity, Athetosis, Dystonia, Dysphagia, Generalized hypotonia, Self-injurious behavior OMIM:617493
Huntington Disease
Agitation, Difficulty walking, Inability to walk, Gait imbalance, Oral-pharyngeal dysphagia, Comp... ORPHA:399
Mitochondrial Complex I Deficiency, Nuclear Type 8
Dystonia, Dysphagia, Generalized hypotonia, Axial dystonia OMIM:618230
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Ataxia, Dystonia OMIM:616684
Bor Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, Abnormality of ... ORPHA:107
Glut1 Deficiency Syndrome 1
Spasticity, Choreoathetosis, Ataxia, Paroxysmal dystonia OMIM:606777
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Polymicrogyria, Gray matter heterotopia, Impulsivity, Abnormality of neuronal migr... OMIM:604317
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Hyperactivity, Brain atrophy, Cerebellar atrophy, Corpus callosum atrophy, Hearing... ORPHA:369939
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Attention deficit hyperactivity disorder, Low-set ears, Compulsive behaviors, Recurrent hand flap... OMIM:620021
Glut1 Deficiency Syndrome 2
Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612126
Developmental Delay, Language Impairment, And Ocular Abnormalities
Apraxia, Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention defici... OMIM:620141
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebral atrophy, Global brain atrophy, Inability to walk, Interictal epileptiform activity, Bila... OMIM:617802
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Chorea, Recurrent hand flapping, Cerebral palsy, Motor stereotypy, Myoclonus, Atte... OMIM:617600
Lennox-Gastaut Syndrome
Falls, Hyperactivity, Vertigo, EEG abnormality, EEG with focal sharp slow waves, Aggressive behavior ORPHA:2382
Developmental And Epileptic Encephalopathy 110
Chorea, Spasticity, Low-set ears, Macrotia, Pain insensitivity, Bruxism, Continuous spike and wav... OMIM:620149
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Inability to walk, Spasticity, Gait disturbance, Attention deficit hyperactivity di... ORPHA:216866
Hypermanganesemia With Dystonia 2
Tip-toe gait, Oromandibular dystonia, Inability to walk, Scissor gait, Spasticity, Tremor, Limb d... OMIM:617013
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Resting tremor, Freezing of gait, Rigidity, Dystonia, Postural tremor OMIM:619911
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Limb hypertonia, Resting tremor, Axial hypotonia, Dystonia, Hypotonia, Choreoathetosis OMIM:606703
Leukoencephalopathy With Dystonia And Motor Neuropathy
Head tremor, Dystonia, Torticollis, Intention tremor OMIM:613724
Kufor-Rakeb Syndrome
Hypertonia, Akinesia, Torticollis, Spasticity, Tremor, Gait disturbance, Spastic paraplegia, Rigi... OMIM:606693
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spastic dysarthria, Dysdiadochokinesis, Spasticity, Dystonia, Ataxia, Dysphagia, Spastic parapare... ORPHA:313772
Leukodystrophy, Hypomyelinating, 18
Spasticity, Progressive spasticity, Dystonia, Spastic tetraplegia, Dysmetria OMIM:618404
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Generalized hypotonia, Tremor, Dystonia ORPHA:306669
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Rigidity, Dystonia, Sho... ORPHA:391411
Developmental And Epileptic Encephalopathy 16
Dystonia, Severe muscular hypotonia, Hypotonia OMIM:615338
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Ataxia, Dysphagia, Dysmetria OMIM:618317
Developmental And Epileptic Encephalopathy 6B
Hyperkinetic movements, Inability to walk, Chorea, EEG with spike-wave complexes (>3.5 Hz), Dysto... OMIM:619317
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Progressive cerebellar ataxia, Dystonia, Hypotonia ORPHA:139485
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Spasticity, Difficulty walking, Motor stereotypy OMIM:617393
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Frequent falls, Gait ataxia, Speech apraxia, Impulsivity, Attention... ORPHA:98818
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Spasticity, Gait ataxia, Axial hypotonia, Crouch gait, Hypotonia OMIM:620145
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Dystonia, Ataxia, Hand tremor OMIM:615889
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Hyperactivity, Spasticity, Low-set ears, Cerebral palsy, Compulsive behaviors, Motor ... ORPHA:352490
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Truncal ataxia, Episodic ataxia, Gait ataxia, Dystonia, Ataxia, Dysphagia, Hypotonia, Arm dystoni... OMIM:601338
Pontocerebellar Hypoplasia, Type 14
Spastic tetraplegia, Hypertonia, Dystonia, Hypotonia OMIM:619301
Spastic Ataxia 3, Autosomal Recessive
Spasticity, Gait ataxia, Dystonia, Loss of ambulation, Ataxia, Spastic ataxia, Dysmetria OMIM:611390
Progressive Supranuclear Palsy-Corticobasal Syndrome
Jerky head movements, Tremor, Focal dystonia, Dysphagia, Somatic sensory dysfunction ORPHA:240103
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Tremor, Rigidity, Dystonia, Spastic paraparesis, Aggressive behavior OMIM:300894