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Gene: Pcdh15 MGI:1891428

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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

Download data as:  TSV  XLS

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Viewing: all phenotypes

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
Pcdh15em1(IMPC)Wtsi
head, eye, abnormal eye morphology, narrow eye opening, HOM, Female, WTSI

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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Usher Syndrome, Type Id
Abnormal vestibular function, Hearing impairment OMIM:601067
Usher Syndrome Type 1
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop... ORPHA:231169
Usher Syndrome, Type If
Abnormal vestibular function, Congenital sensorineural hearing impairment, Impaired tandem gait OMIM:602083
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533

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
Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,... ORPHA:329466
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Hypotonia, Attention deficit hyperactivity disorder, Generalize... OMIM:300830
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Dystonia 25
Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia OMIM:615073
Dystonia 30
Torticollis, Writer's cramp, Impulsivity, Aggressive behavior, Leg dystonia, Arm dystonia, Compul... OMIM:619291
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Laryngeal dystonia, Spastic paraplegia, Difficulty walking, Dystonia OMIM:619681
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Dystonia 4, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Dysphagia, Gait ataxia, Limb d... OMIM:128101
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Dystonia With Cerebellar Atrophy
Torticollis, Dysphagia, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia OMIM:611694
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language
Inability to walk, Hypotonia, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:620038
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Limb dystonia, Oromandibular dystonia, Lingual dys... OMIM:602629
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis, Dysphagia OMIM:118800
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... ORPHA:98807
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Spasticity, Aggressive behavior OMIM:615493
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Craniofacial dystonia ORPHA:370103
Dystonia 32
Limb dystonia, Torticollis, Laryngeal dystonia, Dysphagia OMIM:619637
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Dystonia 33
Axial dystonia, Limb dystonia, Axial hypotonia, Dystonia, Spasticity OMIM:619687
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Spasticity, Aggressive behavior ORPHA:356996
Dystonia 31
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Difficulty walking, Dysphagia, ... OMIM:619565
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,... OMIM:616515
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration ORPHA:3233
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Parasomnia, Sleep Bruxism Type
Myoclonus, Bruxism OMIM:606840
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Cochlear degeneration, Hearing impairment OMIM:271250
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Cogwheel rigidity, Hypertonia, Attention deficit hyperactivity disorder, Dystonia, Spastic gait 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, Abnormal repetitive mannerisms OMIM:300271
Primary Dystonia, Dyt21 Type
Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst... ORPHA:306734
Usher Syndrome, Type Id
Abnormal vestibular function, Hearing impairment OMIM:601067
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Dystonia OMIM:620245
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Striatonigral Degeneration, Childhood-Onset
Unsteady gait, Hypotonia, Dysphagia, Hypertonia, Steppage gait, Dystonia, Loss of ambulation, Cra... OMIM:617054
Primary Dystonia, Dyt6 Type
Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary... ORPHA:98806
Ataxia-Deafness-Retardation Syndrome
Progressive sensorineural hearing impairment, Ataxia OMIM:208850
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... OMIM:617270
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Hypotonia, Compulsive behaviors OMIM:159900
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Vestibular areflexia, Optic atrophy, Dysmetria, Gait ataxia, Pr... ORPHA:504476
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Head tremor, Limb dystonia OMIM:614860
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Axial hypotonia, Dystonia, Oculogyric crisis, Hypertonia, Attention deficit hyp... OMIM:617384
Autosomal Recessive Spastic Paraplegia Type 56
Unsteady gait, Spastic paraplegia, Tip-toe gait, Dystonia, Spastic gait ORPHA:320411
Spinocerebellar Ataxia 6
Cerebellar atrophy, Ataxia, Vertigo, Truncal ataxia, Dysmetria, Progressive cerebellar ataxia, Dy... OMIM:183086
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... OMIM:615625
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Lower limb spasticity, Aggressive behavior, Inability to walk, Hypotonia, Attention deficit hyper... OMIM:619639
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Compulsive behaviors, Dystonia ORPHA:36899
Spastic Ataxia 1, Autosomal Dominant
Spastic ataxia, Spastic paraplegia, Dysphagia, Gait disturbance, Dystonia OMIM:108600
Autosomal Recessive Spastic Paraplegia Type 27
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Spastic paraple... ORPHA:101007
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Tip-toe gait, Unsteady gait, Spastic paraplegia, Dystonia OMIM:615030
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... OMIM:614575
Spinocerebellar Ataxia 37
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Friedreich Ataxia
Decreased motor nerve conduction velocity, Hearing impairment, Inability to walk, Chorea, Optic a... ORPHA:95
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:136600
Striatonigral Degeneration, Infantile
Choreoathetosis, Spasticity, Dystonia, Dysphagia OMIM:271930
Dystonia 15, Myoclonic
Writer's cramp, Dystonia OMIM:607488
Sandhoff Disease, Adult Form
Tremor, Dysphagia, Focal dystonia, Gait ataxia, Dystonia, Spasticity ORPHA:309169
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A... OMIM:309548
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Involuntary movements, Aggressive behavior OMIM:617171
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Abnormal autonomic nervous sys... ORPHA:247234
Spinocerebellar Ataxia Type 23
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... ORPHA:101108
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Clumsiness, Stereotypical body rocking, Agitatio... ORPHA:100973
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Gait disturbance, Dystonia, Spasticity OMIM:614561
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappropriate laughter, Bruxism, A... OMIM:619150
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Restlessness, Axial hypotonia, Ataxia, Inability to walk, Athetosis, Dystonia OMIM:615159
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia, S... OMIM:301107
Spinocerebellar Ataxia 27A
Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abno... OMIM:193003
Spastic Paraplegia 87, Autosomal Recessive
Lower limb spasticity, Upper limb spasticity, Spastic gait, Dystonia OMIM:619966
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia OMIM:616042
Urocanase Deficiency
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Spinocerebellar Ataxia Type 11
Dysphagia, Progressive cerebellar ataxia, Gait imbalance, Difficulty walking, Dystonia ORPHA:98767
Dystonia 16
Torticollis, Postural tremor, Unsteady gait, Dysphagia, Limb dystonia ORPHA:210571
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Tremor, Torsion dystonia, Blepharospasm, Difficulty walking, L... ORPHA:99657
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, S... OMIM:612716
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Dysphagia ORPHA:228169
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Retrocollis, Dystonia, Oromandibular dystoni... OMIM:617284
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Ravine Syndrome
Ataxia, Anorexia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainst... ORPHA:99852
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Axial hypotonia, Ataxia, Tremor, Dystonia OMIM:618425
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Generalized d... ORPHA:52368
Dystonia 16
Generalized dystonia, Postural tremor, Dysphagia, Gait disturbance, Retrocollis, Limb dystonia, L... OMIM:612067
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Rigidity, Difficulty walking, Dystonia OMIM:619661
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Tinnitus, Progressive hearing impairment OMIM:193005
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Tremor, Rigidity, Inappropriate behavior, Dystonia ORPHA:401901
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Unsteady gait, Cochlear nerve hypoplasia, Distal sensory i... OMIM:300614
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Spastic tetraplegia, Dystonia OMIM:618646
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Limb ataxia, Gait ataxia OMIM:117210
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Hypotonia, Limb dystonia OMIM:620270
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Myoclonus, Difficulty walking, Attention deficit hyperactivity disorder OMIM:619191
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Axial hypotonia, Inability to walk, Self-injurious behavior, Dystonia, Stereotypical hand wringing OMIM:618760
Developmental And Epileptic Encephalopathy 7
Hypotonia, Spastic tetraparesis, Dystonia OMIM:613720
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Increased circula... ORPHA:3240
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... ORPHA:320401
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic tetraplegia, Tip-toe gait, Gait disturbance, Compulsive behaviors, Sp... OMIM:615643
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Axial hypotonia, Tremor, Agitation, Compulsive behaviors, Dystonia OMIM:619651
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Paroxysmal dystonia, Writer's cramp ORPHA:163727
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Babinski sign, Spastic tetraplegia, Ankle clonus, Spasticity OMIM:616657
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Aggressive behavior, Torsion dystonia, Choreoathetosis, Dystonia ORPHA:98811
Usher Syndrome Type 1
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop... ORPHA:231169
Dystonia 12
Torticollis, Tremor, Unsteady gait, Dysphagia, Dystonia OMIM:128235
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Hartnup Disorder
Episodic ataxia, Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder OMIM:234500
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... ORPHA:382
Usher Syndrome, Type If
Abnormal vestibular function, Congenital sensorineural hearing impairment, Impaired tandem gait OMIM:602083
Spinocerebellar Ataxia 14
Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Attention deficit hyperact... OMIM:605361
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Severe temper tantrums, Spastic gait, Spastic tetraparesis OMIM:619052
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Ataxia, Vestibular hypofunction ORPHA:231183
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, Tremor, Inability to walk, Hypotonia, Spastic tetraplegia, Dystonia, Spast... ORPHA:599373
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Pendred Syndrome
Congenital sensorineural hearing impairment, Cochlear malformation, Abnormal vestibular function OMIM:274600
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Rigidity, Gait disturbance, Dystonia OMIM:600116
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti... OMIM:617862
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Axial hypotonia, Dystonia, Ataxia, Tremor, Hypotonia, Dysmetria, Dysphagia... OMIM:617916
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Impulsivity, Tremor, Rigidity, Spasticity, Focal dystonia, Gait disturbance, Compu... ORPHA:216873
16P11.2P12.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Dystonia ORPHA:261204
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Hypotonia, Self-injurious behavior, Dystonia, Spasticity, Abnormal repetitive ... OMIM:617820
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Ataxia, Dysmetria, Truncal ataxia OMIM:617584
Spinocerebellar Ataxia Type 28
Limb dystonia, Kinetic tremor, Rigidity, Limb ataxia, Gait ataxia, Head tremor, Dystonia, Spasticity ORPHA:101109
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Dystonia, Spasticity OMIM:615924
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repe... OMIM:619470
Developmental And Epileptic Encephalopathy 58
Inability to walk, Optic atrophy, Spastic diplegia, Hypsarrhythmia, Abnormal repetitive mannerisms OMIM:617830
Paroxysmal Kinesigenic Dyskinesia
Athetosis, Writer's cramp, Dystonia ORPHA:98809
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spinocerebellar atro... ORPHA:95433
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Blepharospasm, Oromandibular dystonia OMIM:602124
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Dystonia OMIM:104290
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Dyston... ORPHA:314603
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... OMIM:609425
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus, Hearing impairment OMIM:159800
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Spastic paraplegia, Limb ataxia, Spastic... ORPHA:251282
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Dysphagia, Gait ataxia, Generalized hypotonia, Limb dystonia, Cranio... ORPHA:71517
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Restlessness, Ataxia, Spastic tetraplegia, Dystonia, Infantile muscular hypotonia ORPHA:263410
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Generalized hypotonia, Dystonia OMIM:616763
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo, Ataxia, Torticollis ORPHA:71518
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Limb ataxia... OMIM:616291
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Rigidity, Inability to walk, Hypotonia, Dysmetria, Gait ataxia, Gait distu... OMIM:618090
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Inappropriate behavior, Disinhibition, Gait disturba... OMIM:600795
Segawa Syndrome, Autosomal Recessive
Axial hypotonia, Tremor, Rigidity, Gait ataxia, Limb dystonia OMIM:605407
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Bruxism, EEG abnormality, Self-injurious behavior, Brai... OMIM:618718
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Postural tremor, Writer's cramp, Cogwheel rigidity, Gait ataxia, Dys... OMIM:128230
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Aggressive behavior, Hypotonia, Attention deficit hyperactivity disorder, Dystonia OMIM:619157
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Hypotonia, Choreoathetosis, Hypertonia, Dysphagia OMIM:261630
Late-Infantile/Juvenile Krabbe Disease
Tremor, EEG with persistent abnormal rhythmic activity, Neuromuscular dysphagia, Loss of ambulati... ORPHA:206443
Usher Syndrome
Abnormal vestibular function, Ataxia, Sensorineural hearing impairment, Vestibular areflexia, Tin... ORPHA:886
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Ataxia, Hypotonia, Dysphagia, Dysmetria, Choreoathetosis, Dystonia, Loss of ambulation, Spasticity OMIM:618088
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Difficulty walking, Dystonia, Spasticity OMIM:617829
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Low-set ears ORPHA:436151
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Ataxia, Dysphagia ORPHA:1171
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Axial hypotonia, Dystonia OMIM:619647
Oxoglutarate Dehydrogenase Deficiency
Rigidity, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Falls, Dystonia OMIM:203740
Spinocerebellar Ataxia, Autosomal Recessive 29
Lower limb spasticity, Axial hypotonia, Ataxia, Generalized dystonia, Inability to walk, Hypotonia OMIM:619389
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Unsteady gait, Limb ataxia, Dysphagia, Gait disturbance, Truncal ataxia ORPHA:284271
Dystonia 9
Choreoathetosis, Episodic ataxia, Spastic paraplegia, Dystonia OMIM:601042
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Pendred Syndrome
Ataxia, Sensorineural hearing impairment, Hypoplasia of the cochlea, Abnormality of the inner ear... ORPHA:705
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Parkinson Disease 19A, Juvenile-Onset
Rigidity, Pill-rolling tremor, Shuffling gait, Dystonia, Loss of ambulation, Spasticity, Limb hyp... OMIM:615528
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... OMIM:616948
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Spastic paraplegia, Limb ataxia, Upper limb spasticity, Gait disturbance, ... OMIM:618418
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms OMIM:612069
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Cer... OMIM:300983
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Spasticity, Frequent falls OMIM:617691
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Choreoathetosis, Spasticity, Axial hypotonia, Dystonia OMIM:614249
Spinocerebellar Ataxia 12
Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head tremor, Action... OMIM:604326
Dentatorubral-Pallidoluysian Atrophy
Choreoathetosis, Ataxia, Dystonia OMIM:125370
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Hypocholesterolemia, Abnormal repetiti... OMIM:610883
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Spastic tetraparesis, Dystonia ORPHA:67046
Parkinsonism-Dystonia 1, Infantile-Onset
Axial hypotonia, Dystonia, Oculogyric crisis, Tremor, Rigidity, Cogwheel rigidity, Hypertonia, Li... OMIM:613135
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... ORPHA:423275
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... ORPHA:275864
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia, Hearing impairment ORPHA:1186
Paroxysmal Non-Kinesigenic Dyskinesia
Rigidity, Torticollis, Choreoathetosis, Dystonia ORPHA:98810
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Hypertonia, Abnormal repetitive mannerisms, Spastic tetraplegia OMIM:615282
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dyspha... ORPHA:500180
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Axial hypotonia, Spastic tetraplegia, Dystonia OMIM:251280
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Limb dystonia, Oromandibular... ORPHA:420485
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Hypertonia, Myoclonus... OMIM:619092
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Speech apraxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention def... OMIM:613670
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Ataxia, Dystonia OMIM:619196
Alternating Hemiplegia Of Childhood 2
Choreoathetosis, Ataxia, Dystonia OMIM:614820
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Dystonia 26, Myoclonic
Blepharospasm, Torticollis, Laryngeal dystonia, Dystonia OMIM:616398
Hemidystonia-Hemiatrophy Syndrome
Dystonia, Limb dystonia ORPHA:306741
Fragile X Syndrome
Macroorchidism, postpubertal, Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand... OMIM:300624
Distal Deletion 3P
Low-set, posteriorly rotated ears, Cryptorchidism, Abnormal vestibulo-ocular reflex, Hearing impa... ORPHA:1620
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Poor coordination, Limb ataxia, Self-injurious behav... OMIM:617695
Spinocerebellar Ataxia, Autosomal Recessive 26
Impaired distal proprioception, Impaired distal vibration sensation, Unsteady gait, Dysmetria, Ga... OMIM:617633
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Ataxia, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Truncal ataxia, Limb ... OMIM:616127
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Spasticity... OMIM:618917
Peroxisome Biogenesis Disorder 3B
Ataxia, Sensorineural hearing impairment, Elevated circulating phytanic acid concentration, Steat... OMIM:266510
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal vestibular function OMIM:619553
Parkinsonism-Dystonia 2, Infantile-Onset
Axial hypotonia, Ataxia, Oculogyric crisis, Tremor, Hypotonia, Dysdiadochokinesis, Shuffling gait... OMIM:618049
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Lower limb spasticity, Ataxia, Hypotonia, Truncal ataxia, Gait ataxia, Gait disturbance, Difficul... OMIM:614458
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Axial hypotonia, Ataxia, Tremor, Gait ataxia, Dystonia, Spasticity OMIM:607317
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Head tre... ORPHA:420492
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Tremor, Rigidity, Scissor gait, Dystonia OMIM:260300
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Torsion dystonia, H... OMIM:128100
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... OMIM:618218
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia OMIM:314250
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Infantile axial hypotonia, Tremor, Scissor gait, Dystonia, Oromandibular dystonia, Loss of ambula... ORPHA:521406
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Choreoathetosis, Episodic ataxia, Spastic paraplegia, Dystonia ORPHA:53583
Dystonia 28
Torticollis, Generalized dystonia, Leg dystonia, Arm dystonia, Attention deficit hyperactivity di... ORPHA:589618
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Hypotonia, Gen... OMIM:616756
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Dy... ORPHA:248111
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Dystonia, Severe muscular hypotonia, Oculogyric crisis, Inability to walk, Hypotonia, Self-injuri... OMIM:614254
Lopes-Maciel-Rodan Syndrome
Axial hypotonia, Dystonia, Tremor, Unsteady gait, Bruxism, Hypertonia, Agitation, Dysphagia, Spas... OMIM:617435
Episodic Kinesigenic Dyskinesia 2
Dystonia OMIM:611031
Familial Dyskinesia And Facial Myokymia
Resting tremor, Axial hypotonia, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Bruxism, Cerebral atrophy, Choreoathetosis, Hyperkinetic movements, Myoclonus,... OMIM:618497
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R... ORPHA:101085
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Ataxia, Writer's cramp, Tremor, Rigidity, Choreoathetosis, Blepharospasm, Disinhibition... OMIM:606159
Squalene Synthase Deficiency
Posteriorly rotated ears, Optic nerve hypoplasia, Increased circulating farnesol concentration, B... OMIM:618156
Raynaud-Claes Syndrome
Lower limb spasticity, Dystonia, Aggressive behavior, Hypotonia, Progressive cerebellar ataxia, G... OMIM:300114
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Lower limb hypertonia, Gait disturbance, Upper limb hypertonia, Dystonia OMIM:614898
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Hand tremor OMIM:608105
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Cln5 Disease
Cerebellar atrophy, Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, At... ORPHA:228360
Mitochondrial Complex I Deficiency, Nuclear Type 23
Hypotonia, Generalized hypotonia, Dystonia OMIM:618244
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Inability to walk, Hypotonia, Dystonia, Spasticity OMIM:618276
Mitochondrial Complex I Deficiency, Nuclear Type 17
Generalized dystonia, Ataxia, Rigidity, Hypotonia, Gait disturbance, Dystonia OMIM:618239
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy, Ataxia ORPHA:85297
Developmental And Epileptic Encephalopathy 69
Inability to walk, Axial hypotonia, Spastic tetraplegia, Dystonia OMIM:618285
Dystonia 21
Blepharospasm, Torticollis, Laryngeal dystonia OMIM:614588
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Dysphagia OMIM:300857
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Ataxia, Sensorineural hearing impairment, Optic atrophy, Truncal ataxia, Dysphagia, Dysmetria, Un... OMIM:601338
Atypical Rett Syndrome
Restrictive behavior, Tremor, Inability to walk, Tongue thrusting, Hypotonia, Gait ataxia, Pill-r... ORPHA:3095
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Myoclonus OMIM:605899
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7
Hypotonia, Dystonia OMIM:620359
Leukodystrophy, Hypomyelinating, 14
Spasticity, Generalized hypotonia, Dystonia OMIM:617899
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Cogwheel rigidity, Choreoathetosis, Gait ataxia... ORPHA:225154
Aicardi-Goutieres Syndrome 2
Spastic paraplegia, Dystonia OMIM:610181
Brunet-Wagner Neurodevelopmental Syndrome
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Self-injurious behavior, Abnormal repetitive... OMIM:619690
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate... OMIM:614104
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Generalized hypotonia, Dystonia OMIM:617836
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Exaggerated startle respon... OMIM:616881
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hypotonia, Generalized hypotonia, Aggressive behavior OMIM:248510
Episodic Ataxia Type 4
Abnormal head movements, Vertigo, Ataxia ORPHA:79136
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Falls, Dystonia ORPHA:240085
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Head tremor, Dystonia OMIM:619724
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Developmental And Epileptic Encephalopathy 67
Athetosis, Recurrent hand flapping, Gait disturbance, Dystonia OMIM:618141
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... ORPHA:206448
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... OMIM:617145
Spinocerebellar Ataxia Type 20
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Gait ataxia, Laryngeal dyst... ORPHA:101110
Brain Dopamine-Serotonin Vesicular Transport Disease
Axial hypotonia, Dystonia, Oculogyric crisis, Spastic tetraparesis, Ataxia, Tremor, Dysdiadochoki... ORPHA:352649
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Generalized hypotonia, Dy... OMIM:233910
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Torticollis, Head titubation, Hypotonia, Truncal ataxia, Limb ataxia, Limb dystonia, Spasticity OMIM:617560
Christianson Syndrome
Cerebellar atrophy, Dystonia, Macrotia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal a... ORPHA:85278
Spastic Paraplegia, Ataxia, And Mental Retardation
Lower limb spasticity, Ataxia, Spastic paraplegia, Dystonia, Spastic gait OMIM:607565
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Unsteady gait, Truncal ataxia, Dysmetria, Gait ataxia, Nonprogressive cerebellar ataxia, Dystonia... ORPHA:453521
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Maternal Uniparental Disomy Of Chromosome 4
Impaired vibratory sensation, Abetalipoproteinemia, Elevated circulating creatine kinase concentr... ORPHA:96180
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Axial hypotonia, Generalized dystonia, Spastic tetraparesis, Inability to walk, Opisthotonus, Cho... OMIM:619653
Spinocerebellar Ataxia Type 6
Unsteady gait, Dysphagia, Gait ataxia, Blepharospasm, Progressive cerebellar ataxia, Dystonia, Ch... ORPHA:98758
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia... ORPHA:1215
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Rigidity, Limb ataxia, Hypertonia, Limb dystonia OMIM:618824
Mepan Syndrome
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Hypotonia, Dysphagia, Gait disturbance, Limb dyst... ORPHA:508093
Parkinson Disease 6, Autosomal Recessive Early-Onset
Rigidity, Resting tremor, Dystonia OMIM:605909
Mitochondrial Myopathy With Lactic Acidosis
Hypotonia, Dysmetria, Tip-toe gait, Dystonia, Spasticity OMIM:251950
Primary Dystonia, Dyt4 Type
Torticollis, Generalized dystonia, Upper limb postural tremor, Blepharospasm, Dysdiadochokinesis,... ORPHA:98805
Spinocerebellar Ataxia 48
Ataxia, Tremor, Dysmetria, Gait ataxia, Dysphagia, Dystonia OMIM:618093
Amyotrophic Lateral Sclerosis 2, Juvenile
Lower limb spasticity, Generalized dystonia, Dystonia, Ataxia, Spastic tetraparesis, Head titubat... OMIM:205100
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Partington Syndrome
Limb dystonia, Lower limb spasticity, Focal dystonia OMIM:309510
X-Linked Dystonia-Parkinsonism
Resting tremor, Progressive extrapyramidal muscular rigidity, Torsion dystonia, Hand tremor, Foca... ORPHA:53351
Leukodystrophy, Hypomyelinating, 25
Gait ataxia, Hypotonia, Dystonia OMIM:620243
Hsd10 Disease
Ataxia, Tremor, Postnatal growth retardation, Optic atrophy, Frontotemporal cerebral atrophy, Cho... ORPHA:391417
Leukoencephalopathy, Cystic, Without Megalencephaly
Athetosis, Spasticity, Ataxia, Dystonia OMIM:612951
Huntington Disease-Like 2
Gait disturbance, Dystonia ORPHA:98934
7Q31 Microdeletion Syndrome
Torticollis, Hyperactivity, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-... ORPHA:251061
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Optic atrophy, Bruxism, Cerebral atrophy, Dysphagia, Choreoathetosis, Bilateral s... OMIM:619422
Huntington Disease-Like 1
Cerebellar atrophy, Abnormal head movements, Restlessness, Chorea, Dysmetria, Gait ataxia, EEG ab... ORPHA:157941
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Increased cerebral lipofuscin, Hypocholesterolemia, Intention tremor OMIM:610539
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Spinocerebellar Ataxia 21
Postural tremor, Ataxia, Impulsivity, Aggressive behavior, Akinesia, Limb ataxia, Cogwheel rigidi... OMIM:607454
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Action tremor, Chorea, Myoclonus, Head tremor, Aprax... OMIM:620158
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa... OMIM:144300
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Progressive spasticity, Dysphagia, Macrotia, Abnormal repetitive ... DECIPHER:45
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Impaired pain sensation, Abnormal repetitive mannerisms, Sel... OMIM:182290
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Hypertonia, Shuffling gait,... OMIM:617964
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Facial hypotonia, Hypotonia, Spastic dysarthria, Difficulty walking, Dystonia, Spa... ORPHA:280763
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Multiple Mitochondrial Dysfunctions Syndrome 6
Ataxia, Inability to walk, Hypotonia, Dysmetria, Dystonia, Spasticity OMIM:617954
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Gait disturbance, Dystonia ORPHA:314632
Hyperlysinemia, Type I
Hyperactivity, Hypotonia OMIM:238700
Spinocerebellar Ataxia, Autosomal Recessive 11
Ataxia, Limb ataxia, Dysphagia, Gait disturbance, Truncal ataxia OMIM:614229
Pelizaeus-Merzbacher Disease, Classic Form
Axial hypotonia, Ataxia, Spastic tetraparesis, Dystonic gait, Hypotonia, Titubation, Athetosis, H... ORPHA:280219
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Dystonia, Ataxia, Oculogyric crisis, Rigidity, Hypotonia, Opisthotonus, Choreoathet... ORPHA:13
Pontocerebellar Hypoplasia, Type 2C
Dystonia OMIM:612390
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Hypsarrhythmia, Macrotia, Abnormal repetitive mannerisms, Hearing impairment OMIM:619877
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Hypotonia, Choreoathetosis, Dystonia, Neonatal... OMIM:245348
Partington Syndrome
Lower limb spasticity, Gait disturbance, Limb dystonia ORPHA:94083
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysphagia, Dysdiadochokinesis, Spastic paraparesis, ... OMIM:614487
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia ORPHA:330050
Basal Ganglia Calcification, Idiopathic, 1
Tremor, Rigidity, Athetosis, Dysdiadochokinesis, Gait disturbance, Dystonia, Limb dysmetria OMIM:213600
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Aggressive behavior, Rigidity, Dysphagia, Dysmetria, Gait ataxia, Limb ... OMIM:607136
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Postural tremor, Oculogyric crisis, Ataxia, Rigidity, Hypotonia, Focal dyst... ORPHA:101150
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Axial hypotonia, Ataxia, Hypotonia, Falls, Generalized hypotonia, Dystonia, Spasticity OMIM:619224
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Generalized hypotonia, Dystonia OMIM:618224
3-Methylglutaconic Aciduria, Type I
Ataxia, Spastic tetraplegia, Athetosis, Dystonia, Spasticity, Self-mutilation OMIM:250950
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Generalized hypotonia, Neonatal hypotonia, Rec... OMIM:615516
Leber Optic Atrophy And Dystonia
Athetosis, Spasticity, Dystonia, Dysphagia OMIM:500001
Oromandibular Dystonia
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Blepharospasm, Limb dystonia, Lingual dyst... ORPHA:93958
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Hypotonia, Choreoathetosis, Limb dystonia OMIM:619054
Combined Oxidative Phosphorylation Deficiency 50
Generalized dystonia, Dysphagia OMIM:619025
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Abnormal eating behavior, Anteverted ears, Tremor, Poor coordination, Obsessive-compulsiv... ORPHA:544254
Encephalopathy Due To Prosaposin Deficiency
Hypotonia, Dystonia ORPHA:139406
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Aggressive behavior, Tremor, Dysphagia, Hypertonia, Dystonia, Action tremor OMIM:619738
Spinocerebellar Ataxia Type 17
Torticollis, Ataxia, Writer's cramp, Rigidity, Blepharospasm, Gait disturbance, Dystonia, Spasticity ORPHA:98759
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Spastic Paraplegia 26, Autosomal Recessive
Lower limb spasticity, Ataxia, Spastic paraplegia, Dysmetria, Tip-toe gait, Upper limb spasticity... OMIM:609195
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Short stature, Aggressive behavior, Tremor, Sensorineural hearing impairment, Brux... OMIM:618342
Manganese Poisoning
Postural tremor, Akinesia, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Hypertonia, Ga... ORPHA:306682
Jeavons Syndrome
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... ORPHA:139431
Developmental And Epileptic Encephalopathy 17
Inability to walk, Athetosis, Dystonia OMIM:615473
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Hyperphenylalaninemia, Bh4-Deficient, A
Axial hypotonia, Dystonia, Ataxia, Tremor, Rigidity, Choreoathetosis, Hypertonia, Dysphagia, Limb... OMIM:261640
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ce... OMIM:256600
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... OMIM:609270
Developmental And Epileptic Encephalopathy 53
Hypotonia, Spastic tetraplegia, Dystonia OMIM:617389
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... OMIM:600501
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Abnormal flash visual evoked potentials, Dystonia, Postural tremor, Chorea, O... ORPHA:98755
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Bruxism OMIM:300434
Leukodystrophy, Hypomyelinating, 6
Axial hypotonia, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia, Spasticity OMIM:612438
Lennox-Gastaut Syndrome
Hyperactivity, Falls, Myoclonus, Aggressive behavior ORPHA:2382
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Anorexia, A... ORPHA:3077
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Restlessness, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... OMIM:300055
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm OMIM:606324
Episodic Ataxia, Type 9
Episodic ataxia, Dystonia OMIM:618924
Coasy Protein-Associated Neurodegeneration
Oromandibular dystonia, Difficulty walking, Compulsive behaviors, Spastic paraparesis ORPHA:397725
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ... OMIM:620023
Optic Atrophy 11
Decreased sensory nerve conduction velocity, Hyperactivity, Short stature, Optic nerve hypoplasia... OMIM:617302
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large... ORPHA:411986
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Dystonia, Aggressive behavior, D... OMIM:200150
Atypical Progressive Supranuclear Palsy Syndrome
Extrapyramidal muscular rigidity, Tremor, Rigidity, Unsteady gait, Focal dystonia, Blepharospasm,... ORPHA:99750
Spastic Paraplegia 47, Autosomal Recessive
Waddling gait, Inability to walk, Spastic paraplegia, Hypertonia, Dystonia, Neonatal hypotonia, S... OMIM:614066
Glut1 Deficiency Syndrome 1
Choreoathetosis, Paroxysmal dystonia, Spasticity, Ataxia OMIM:606777
Foxg1 Syndrome
Dystonia, Inability to walk, Hypotonia, Choreoathetosis, Difficulty walking, Bruxism, Spasticity,... ORPHA:561854
Spinocerebellar Ataxia Type 36
Ataxia, Vertigo, Babinski sign, Limb myoclonus, Dysmetria, Limb ataxia, Hand tremor, Dysphagia, I... ORPHA:276198
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Spastic diplegia, Dystonia OMIM:619065
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Neurodevelopmental Disorder With Dystonia And Seizures
Spastic tetraplegia, Hypotonia, Self-injurious behavior, Athetosis, Dystonia OMIM:619922
Aicardi-Goutieres Syndrome 3
Spasticity, Hypotonia, Generalized hypotonia, Dystonia OMIM:610329
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Optic disc pallor, Ataxia, EEG with abnormally slow frequencies, Inability to... ORPHA:1947
Spinocerebellar Ataxia 28
Limb ataxia, Gait ataxia, Lower limb hypertonia, Dystonia, Spasticity OMIM:610246
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Aggressive behavior, Tremor, Rigidity, Spastic paraparesis ORPHA:329284
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Chorea, Myoclonus, Attention deficit hyperactivity disorder, Recur... OMIM:617600
Pontocerebellar Hypoplasia, Type 14
Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia OMIM:619301
Ogden Syndrome
Abnormal head movements, Torticollis, Postnatal growth retardation, Cryptorchidism, Cerebral atro... ORPHA:276432
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Inability to walk, Chorea, Bruxism, Hemiparesis, Self-injurious behavior, Dy... OMIM:618004
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Optic atrophy, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, ... OMIM:617807
Spinocerebellar Ataxia Type 2
Kinetic tremor, Postural tremor, Gait ataxia, Progressive cerebellar ataxia, Generalized hypotoni... ORPHA:98756
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Axial hypotonia, Ataxia, Choreoathetosis, Dystonia, Spasticity, Limb hypertonia OMIM:615905
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Lower limb spasticity, Ataxia, Spastic tetraparesis, Spastic paraplegia, Dysmetria, Dysdiadochoki... OMIM:612319
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Lower limb spasticity, Ataxia, Dysmetria, Pseudobulbar paralysis, Lower limb hypertonia, Difficul... ORPHA:438114
Dystonia-Deafness Syndrome 1
Generalized dystonia, Oculogyric crisis, Leg dystonia, Pseudobulbar paralysis, Dysphagia, Loss of... OMIM:607371
Leukodystrophy, Hypomyelinating, 9
Lower limb spasticity, Axial hypotonia, Ataxia, Dysmetria, Pseudobulbar paralysis, Dystonia, Inte... OMIM:616140
Developmental And Epileptic Encephalopathy 27
Spasticity, Axial hypotonia, Hypotonia, Dystonia OMIM:616139
Familial Paroxysmal Ataxia
Torticollis, Ataxia, Dystonia ORPHA:97
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Lower limb spasticity, Dystonia, Ataxia, Head titubation, Inability to walk, Spas... ORPHA:300605
Leukoencephalopathy With Dystonia And Motor Neuropathy
Intention tremor, Torticollis, Head tremor, Dystonia OMIM:613724
Neurodevelopmental Disorder With Involuntary Movements
Dysphagia, Self-injurious behavior, Athetosis, Generalized hypotonia, Dystonia, Spasticity OMIM:617493
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... OMIM:301029
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Difficulty walking, Dystonia OMIM:616684
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Ataxia, Dysmetria, Dysphagia OMIM:618317
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural... OMIM:619260
Mitochondrial Complex I Deficiency, Nuclear Type 8
Axial dystonia, Dystonia, Generalized hypotonia, Dysphagia OMIM:618230
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Dysphagia, Bilateral conductive hearing ... OMIM:617802
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ... OMIM:620021
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Continuous spike and waves during slow sleep, Chorea, Low-set ears, Bruxism, ... OMIM:620149
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Optic atrophy, B... ORPHA:369939
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Ataxia, Dysphagia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Spastic parapares... ORPHA:313772
Huntington Disease
Dystonia, Aggressive behavior, Oral-pharyngeal dysphagia, Rigidity, Inability to walk, Addictive ... ORPHA:399
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Rigidity, Dystonia, Freezing of gait OMIM:619911
Hypermanganesemia With Dystonia 2
Axial hypotonia, Generalized dystonia, Dystonia, Tremor, Inability to walk, Scissor gait, Hypoton... OMIM:617013
Kufor-Rakeb Syndrome
Torticollis, Dystonia, Ataxia, Akinesia, Aggressive behavior, Tremor, Rigidity, Spastic paraplegi... OMIM:606693
Leukodystrophy, Hypomyelinating, 18
Spastic tetraplegia, Dysmetria, Progressive spasticity, Dystonia, Spasticity OMIM:618404
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Atypical Juvenile Parkinsonism
Resting tremor, Akinesia, Rigidity, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Sho... ORPHA:391411
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Difficulty walking, Generalized hypotonia, Dystonia ORPHA:306669
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Axial hypotonia, Hypotonia, Choreoathetosis, Dystonia, Limb hypertonia OMIM:606703
Infantile Convulsions And Choreoathetosis
Choreoathetosis, Athetosis, Dystonia ORPHA:31709
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxi... OMIM:620141
Perry Syndrome
Akinesia, Tremor, Rigidity, Inappropriate behavior, Disinhibition, Dystonia, Short stepped shuffl... OMIM:168605
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Posteriorly rota... OMIM:618598
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Spasticity, Abnormal repetitive mannerisms, Difficulty walking OMIM:617393
Developmental And Epileptic Encephalopathy 16
Severe muscular hypotonia, Hypotonia, Dystonia OMIM:615338
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Progressive cerebellar ataxia, Hypotonia, Dystonia ORPHA:139485
Pelizaeus-Merzbacher Disease
Short stature, Ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Dystonia, Abnormality of... ORPHA:702
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Axial hypotonia, Hypotonia, Gait ataxia, Crouch gait, Spasticity OMIM:620145
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior, Spastic tetraparesis, Hemiparesis, Hypertonia, S... OMIM:604317
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Multifocal epileptiform discharges, EEG with spike-wave comple... OMIM:619317
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Ataxia, Hand tremor, Dystonia OMIM:615889
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Cerebral palsy, Repetitive compulsive behavior, Hypertonia, Compulsive behaviors, ... ORPHA:352490
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... OMIM:601152
Landau-Kleffner Syndrome
Speech apraxia, Hyperactivity, Impulsivity, Aggressive behavior, Slurred speech, Gait ataxia, Ste... ORPHA:98818
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Akinesia, Aggressive behavior, Tremor, Rigidity, Spastic paraparesis OMIM:300894
Developmental And Epileptic Encephalopathy 44
Athetosis, Spasticity, Axial hypotonia, Dystonia OMIM:617132
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Short stature, Impaired pain sensation, Cryptorchidism, Bulimia, Anterior crea... ORPHA:314389
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Blepharospasm, Falls, Gai... ORPHA:240071
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Co... ORPHA:168491
Spastic Ataxia 3, Autosomal Recessive
Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation, Spasticity OMIM:611390
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Rigidity, Inability to walk, Dysphagia, Dystonia, Spasticity OMIM:617672
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Opisthotonus, Tip-toe gait, Gait disturbance, Attention ... ORPHA:216866
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Spasticity,... OMIM:610042
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Tremor, Focal dystonia, Dysphagia, Jerky head movements ORPHA:240103
Ataxia-Telangiectasia-Like Disorder 1
Lower limb spasticity, Ataxia, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis,... OMIM:604391
Autosomal Recessive Spastic Paraplegia Type 26
Lower limb spasticity, Pseudobulbar paralysis, Gait disturbance, Dystonia ORPHA:101006
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting... OMIM:619580
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spastic tetraplegia, Choreoathetosis, Generalized hypotonia, Dystonia, Spasticity OMIM:618238
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Ataxia, Spastic paraplegia, Unsteady gait, Spastic tetraplegia, Dystonia, Neonatal hypotonia OMIM:245349
Pontocerebellar Hypoplasia, Type 15
Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia OMIM:619302
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Ataxia, Hypotonia, Dystonia OMIM:620094
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... OMIM:620292
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abn... ORPHA:1933
Corticobasal Syndrome
Limb dystonia, Akinesia, Tremor, Gait disturbance, Dystonia, Progressive extrapyramidal muscular ... ORPHA:454887
Peroxisomal Acyl-Coa Oxidase Deficiency
Hypotonia, Dysphagia, Hypertonia, Dystonia, Neonatal hypotonia OMIM:264470
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia OMIM:250850
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Tremor, Gait disturbance, Macrotia, Abnormal repetitive mannerisms, Se... ORPHA:457240
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Optic atrophy, Gait distur... ORPHA:35069
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Ataxia, Tremor, Steatorrhea, Dysmetria, Hypoalbuminemia, Hypocholesterolemia,... OMIM:212065
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Rigidity, Hand tremor, Dysphagia, Gait disturbance, Shuffling gait, Spastic paraparesis... ORPHA:289560
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... OMIM:609136
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Dystonia, Ataxia, Aggressive behavior, Tremor, Gait apraxia, Dysphagia, Dysmetria... OMIM:615157
Huntington Disease-Like 3
Abnormal head movements, Caudate atrophy, Broad-based gait, Chorea, Progressive gait ataxia, Dyst... ORPHA:157946
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior, Poor coordination, Low-set ... OMIM:618430
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Choreoathetosis, Hypertonia, Dystonia, Spasticity ORPHA:71277
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Ataxia, Tremor, Dysphagia, Dysmetria, Dystonia, Loss of ambulation, Spasticity OMIM:607694
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Hyperkinetic movements OMIM:271980
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Abnormal repetitive mannerisms, Low-set ears OMIM:613443
Leukodystrophy, Hypomyelinating, 21
Athetosis, Ataxia, Dystonia OMIM:619310
Leukodystrophy, Hypomyelinating, 2
Axial hypotonia, Dystonia, Ataxia, Rigidity, Head titubation, Choreoathetosis, Progressive spasti... OMIM:608804
Progressive Supranuclear Palsy
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Blepharospasm, Falls, Dysphagia ORPHA:683
Peroxisomal Acyl-Coa Oxidase Deficiency
Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Gait disturbance, Low-set ears,... ORPHA:2971
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Axial hypotonia, Severe muscular hypotonia, Dystonia OMIM:614932
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... OMIM:618825
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, Truncal ataxia,... OMIM:617101
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Dystonia, Writer's cramp, Ataxia, Tremor, Head titubation... OMIM:312080
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox... ORPHA:228402
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Short stature, Aggressive behavior, Sensorineural hearing impa... OMIM:600430
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Bruxism, Hearing impairment OMIM:616351
Sulfite Oxidase Deficiency, Isolated
Axial hypotonia, Generalized dystonia, Ataxia, Choreoathetosis, Hypertonia, Agitation, Generalize... OMIM:272300
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity, Aggressive behavior, Generalized hypotonia, Spasticity ORPHA:457260
Gaucher Disease Type 2
Spasticity, Dystonia, Dysphagia ORPHA:77260
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Ataxia, Head titubation, Generalized hypotonia, Dystonia, Progressive spasticity, Difficulty walking ORPHA:527497
4Q21 Microdeletion Syndrome
Tremor, Growth delay, Self-injurious behavior, Low-set ears, Intrauterine growth retardation, Abn... ORPHA:238750
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Unsteady gait, Dysmetria, Dysphagia, Dystonia, Spasticity ORPHA:79263
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Ataxia, Rigidity, Hypotonia, Blepharospasm, Athetosis, Gait disturbance, Dysphagia, Los... OMIM:617282
Lamb-Shaffer Syndrome
Hyperactivity, Mild postnatal growth retardation, Ataxia, Optic atrophy, Abnormal temper tantrums... ORPHA:530983
X-Linked Adrenoleukodystrophy
Hyperactivity, Incoordination, Somatic sensory dysfunction, Paralysis, Aggressive behavior, Parap... ORPHA:43
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Pain insensitivity, Ataxia, Rigidity, Inability to walk, Chorea, Repetitiv... OMIM:300260
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Axial hypotonia, Dystonia, Rigidity, Truncal titubation, Inability to walk, Opisthotonus, Cogwhee... OMIM:607483
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia ORPHA:411515
Aminoacylase 1 Deficiency
Cerebellar atrophy, Hyperactivity, Sensorineural hearing impairment, Cerebral atrophy, Cerebral c... OMIM:609924
Alzheimer Disease 3
Spastic tetraparesis, Dysphagia, Gait disturbance, Dystonia, Optic ataxia OMIM:607822
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Choreoathetosis, Ataxia, Generalized hypotonia, Dystonia OMIM:618416
Spinocerebellar Ataxia Type 8
Ataxia, Rigidity, Unsteady gait, Dysphagia, Gait ataxia, Spastic dysarthria, Limb ataxia, Dystoni... ORPHA:98760
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Dystonia ORPHA:254881
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... OMIM:617808
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... ORPHA:309246
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... ORPHA:363558
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Unsteady gait, Dysmetria, Hypsarrhy... OMIM:617773
Infantile Dystonia-Parkinsonism
Axial hypotonia, Oculogyric crisis, Hypertonia, Dystonia, Limb hypertonia ORPHA:238455
Leukodystrophy, Hypomyelinating, 15
Ataxia, Dysphagia, Athetosis, Dystonia, Loss of ambulation, Spasticity, Intention tremor OMIM:617951
Canavan Disease
Abnormality of visual evoked potentials, EEG abnormality, Optic atrophy, Hearing impairment ORPHA:141
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Hypotonia, Athetosis, Hypertonia, Dystonia, Self-mutilation ORPHA:52503
Branchiootorenal Syndrome 1
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... OMIM:113650
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Bruxism, Agitation, Gait disturbance, Dystonia, Recurrent hand flapping OMIM:617903
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Spasticity, Dystonia, Dysphagia OMIM:607236
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Interictal EEG abnormality, Poor motor coordination, Parki... ORPHA:79264
Baralle-Macken Syndrome
Neonatal hypotonia, Inability to walk, Spasticity, Dystonia OMIM:619255
Developmental And Epileptic Encephalopathy 1
Axial hypotonia, Dystonia, Spastic tetraparesis, Choreoathetosis, Hypertonia, Dysphagia OMIM:308350
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Impulsivity, Inability to walk, Hypotonia, Atten... OMIM:617854
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Unsteady gait, Pica, EEG abnormality, Low-set ears, Spasticity, Recurrent hand flapping, Limb hyp... OMIM:618480
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Increased L... OMIM:277460
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Head titubation, Hypotonia, Dysmetria, Truncal ataxia, Dystonia OMIM:250620
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Axial hypotonia, Oculogyric crisis, Tremor, Rigidity, Dystonia, Limb hypertonia ORPHA:70594
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Axial hypotonia, Severe temper tantrums, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia... OMIM:617710
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Hypertonia, Gait disturbance, Dystonia ORPHA:96
Huntington Disease-Like 3
Spasticity, Unsteady gait, Ataxia, Dystonia OMIM:604802
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Axial hypotonia, Ataxia, Unsteady gait, Difficulty walking,... ORPHA:464282
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Tremor, Rigidity, Head titubation, Inability to walk, Hypotonia, Truncal ataxia, Gait ataxia, Cho... OMIM:618877
Chylomicron Retention Disease
Impaired vibratory sensation, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminem... OMIM:246700
Leukodystrophy, Hypomyelinating, 20
Torticollis, Hypertonia, Spastic tetraplegia, Dystonia OMIM:619071
Mitochondrial Complex I Deficiency, Nuclear Type 26
Choreoathetosis, Limb hypertonia, Dystonia, Dysphagia OMIM:618247
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Dystonia, Dysphagia OMIM:304700
4H Leukodystrophy
Ataxia, Tremor, Dysmetria, Dysphagia, Progressive gait ataxia, Dysdiadochokinesis, Dystonia ORPHA:289494
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Hyperactivity, Aggressive behavior, Chorea, Unsteady gait, Self-injurious ... ORPHA:485350
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Hyperactivity, Clonus, Spastic paraplegia, B... OMIM:609727
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Incoordination, Impaired pain sensation, Gait ataxia, Brain atrophy, Low-set ears, Abnormal repet... OMIM:616579
Krabbe Disease
Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduction vel... OMIM:245200
Progressive Myoclonic Epilepsy With Dystonia
Generalized neonatal hypotonia, Dystonia ORPHA:352596
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Facial diplegia... OMIM:619121
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Hypotonia, Self-injurious behavior, Compulsive behaviors, Spa... OMIM:619467
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Hypotonia, Focal dystonia, Spastic dysarthria, Progressive gait ataxia, Loss of ... ORPHA:447757
Huntington Disease-Like 2
Rigidity, Action tremor, Dystonia OMIM:606438
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Brain atrophy, Hearing impairment OMIM:620114
Rett Syndrome, Congenital Variant
Dystonia, Chorea, Tongue thrusting, Bruxism, Protruding ear, Athetosis, EEG abnormality, Apraxia,... OMIM:613454
Apert Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc... ORPHA:87
Phenylketonuria
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavior... OMIM:261600
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Combined Oxidative Phosphorylation Deficiency 32
Tremor, Inability to walk, Hypotonia, Dysphagia, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
Amyotrophic Dystonic Paraplegia
Spastic paraplegia, Dystonia OMIM:105300
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... ORPHA:247815
Rett Syndrome
Limb apraxia, Inability to walk, Bradykinesia, EEG abnormality, Gait disturbance, Abnormal autono... ORPHA:778
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ... ORPHA:33543
Hijazi-Reis Syndrome
Ankle clonus, Lower limb spasticity, Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Mitochondrial Complex I Deficiency, Nuclear Type 15
Spastic tetraplegia, Generalized hypotonia, Dystonia OMIM:618237
Developmental And Epileptic Encephalopathy 86
Generalized hypotonia, Dystonia OMIM:618910
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Ataxia-Telangiectasia-Like Disorder
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Generalized hypotonia, Dystonia, Intention tr... ORPHA:251347
Cri-Du-Chat Syndrome
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Cryptorchidism, ... OMIM:123450
Coffin-Siris Syndrome 7
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... OMIM:618027
Childhood Absence Epilepsy
Punding, Jerky head movements, Attention deficit hyperactivity disorder ORPHA:64280
Otofaciocervical Syndrome 1
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea OMIM:166780
Kaya-Barakat-Masson Syndrome
Axial hypotonia, Spastic tetraplegia, Generalized hypotonia, Limb dystonia, Spasticity OMIM:619125
Megalocornea-Intellectual Disability Syndrome
Ataxia, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Hypercholesterolemia, ... ORPHA:2479
Bilateral Generalized Polymicrogyria
Axial hypotonia, Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Self-injuriou... ORPHA:208447
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod... OMIM:617865
Xq21 Microdeletion Syndrome
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op... ORPHA:1435
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Spastic hemiparesis, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity OMIM:619616
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Hypotonia, Self-injurious behavior, Generalized hypotonia, Dystonia, Recurrent hand flapping OMIM:617268
Alazami Syndrome
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... ORPHA:319671
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Abnormal pinna morphology, Short stature, Aggressive behavior, Tremor, Cryptorchid... OMIM:300354
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Difficulty walking, Dystonia, Progressive extrapyramidal muscular rigidity ORPHA:401768
Optic Atrophy 5
Abnormality of pattern visual evoked potentials OMIM:610708
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Diffuse cerebral atrophy, ... ORPHA:206436
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Abnormal motor evoked potentials, Ataxia, Parkinson... ORPHA:909
Pontocerebellar Hypoplasia, Type 9
Axial hypotonia, Facial hypotonia, Dysphagia, Hypertonia, Dystonia, Spasticity OMIM:615809
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Low-set ear... OMIM:616393
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Short stature, Aggressive behavior, Agitation, Macrotia OMIM:300558
Parkinson Disease, Late-Onset
Resting tremor, Tremor, Rigidity, Dysphagia, Dystonia, Short stepped shuffling gait OMIM:168600
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Rigidity, Dysphagia, Gait disturbance, Shuffling gait, Dystonia, Loss of ambulation OMIM:168601
Parkinson Disease 20, Early-Onset
Tremor, Rigidity, Dysphagia, Gait disturbance, Shuffling gait, Dystonia, Short stepped shuffling ... OMIM:615530
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Spasticity, Hypotonia, Generalized hypotonia, Dystonia OMIM:616277
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Difficulty walking, Generalized hypotonia, Dystonia OMIM:611890
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Short stature, Optic nerve hypoplasia, Inability to walk, Chorea, M... OMIM:617864
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Cryptorchidism, Self-bitin... ORPHA:3306
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... OMIM:301013
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Ataxia, Dysphagia, Choreoathetosis, Gait imbalance, Head tremor, Dystonia ORPHA:64753
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Tetraparesis ORPHA:85277
Siddiqi Syndrome
Limb dystonia OMIM:618635
Optic Atrophy-Intellectual Disability Syndrome
Short stature, Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ... ORPHA:401777
Dihydrolipoamide Dehydrogenase Deficiency
Ataxia, Hypotonia, Dystonia OMIM:246900
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Hypertonia, Infantile muscular hypotonia ORPHA:26792
Adenylosuccinase Deficiency
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Inability to walk, Cerebral atrophy, Opis... OMIM:103050
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiado... OMIM:610217
5Q14.3 Microdeletion Syndrome
Frontal cortical atrophy, Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:228384
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Decreased serum iron, Repetitive compulsive behavior, Abnormality of the ear, EEG abnormality, At... ORPHA:391372
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Macrotia, Abnormal repeti... OMIM:619435
Harel-Yoon Syndrome
Axial hypotonia, Ataxia, Inability to walk, Hypotonia, Dystonia, Spasticity OMIM:617183
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Impulsivity, Tremor, Gait disturbance, Dystonia, Oromandibular dyst... OMIM:614298
Folinic Acid-Responsive Seizures
Broad-based gait, Ataxia, Spastic tetraparesis, Hypertonia, Difficulty walking, Dystonia ORPHA:79097
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Spasticity, Macrotia, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v... ORPHA:485421
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Hypsarrh... OMIM:300912
Smith-Magenis Syndrome
Hypertriglyceridemia, Impaired pain sensation, EEG abnormality, Self-injurious behavior, Gait dis... ORPHA:819
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Short stature, Postnatal growth retardation, Congenital sensorineural hearing impa... ORPHA:73272
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... ORPHA:309256
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r... OMIM:617751
Mitochondrial Complex I Deficiency, Nuclear Type 5
Axial hypotonia, Ataxia, Hypotonia, Dysphagia, Generalized hypotonia, Dystonia OMIM:618226
Spinocerebellar Ataxia Type 3
Progressive cerebellar ataxia, Dystonia ORPHA:98757
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myo... ORPHA:363400
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Dysphagia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Spasticity, Inte... OMIM:614381
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Restlessness, Hyperactivity, Short stature, Ataxia, Hearing impairment, Aggressive behavior, Cryp... ORPHA:369891
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Sensorineural hearing impairment, EEG with frontal sharp slow waves, Hypsarrhy... ORPHA:457351
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529808
Neuroferritinopathy
Resting tremor, Dystonia, Writer's cramp, Leg dystonia, Focal dystonia, Blepharospasm, Arm dyston... ORPHA:157846
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Tremor, Large earlobe, Gait imbalance, Low-set ears, Dy... OMIM:619312
Cerebral Creatine Deficiency Syndrome 1
Speech apraxia, Broad-based gait, Aganglionic megacolon, Aggressive behavior, Underfolded superio... OMIM:300352
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Decreased LDL cholesterol ... OMIM:615558
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Poor coordination, Poor fine motor coordination, Attention de... OMIM:620242
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Low-set ears, Attention deficit hyperactivity disorder, Abnormal... OMIM:618205
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D... OMIM:617061
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Axial hypotonia, Ataxia, Inability to walk, Dysmetria, Dystonia, Spasticity, Limb hypertonia OMIM:618087
Kaufman Oculocerebrofacial Syndrome
Optic disc pallor, Abnormal pinna morphology, Low-set ears, Hypocholesterolemia OMIM:244450
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Ataxia, Hypsarrhythmia, Growth delay, Head tremor, Con... OMIM:619428
Hereditary Methemoglobinemia
Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity ORPHA:621
Continuous Spikes And Waves During Sleep
Dystonia, Aggressive behavior ORPHA:725
22Q11.2 Duplication Syndrome
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... ORPHA:1727
White-Sutton Syndrome
Waddling gait, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Short stature, Ag... OMIM:616364
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Dystonia, Infantile muscular hypotonia ORPHA:457205
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Cryptorchidism, Ab... ORPHA:500159
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Ataxia, Truncal ataxia, Neonatal hypotonia, Spasticity OMIM:252011
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Tremor, Truncal ataxia, Limb ataxia, Gait ataxia, Dystonia, Loss of ambulation OMIM:208920
Alg12-Cdg
Hyponatremia, Abnormal pinna morphology, Cryptorchidism, Sensorineural hearing impairment, Hypoal... ORPHA:79324
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Asymmetry of the ears, Bilateral cryptorchidism, Cryptorchidism, Sensorineural hea... OMIM:617796
Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Dystonia, Impulsivity, Rigidity, Leg dystonia, Choreoathetosis, Tip-toe gait, Tics... ORPHA:157850
Friedreich Ataxia
Impaired vibratory sensation, Ataxia, Optic atrophy, Impaired proprioception, Limb ataxia, Gait a... OMIM:229300
48,Xxyy Syndrome
Ataxia, Tremor, Cryptorchidism, Azoospermia, Attention deficit hyperactivity disorder, Chronic ot... ORPHA:10
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with... ORPHA:397612
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Hypotonia, Choreoathetosis, Generalized hypotonia, Dystonia, Episodic ataxia OMIM:312170
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Generalized dystonia, Ataxia, Inability to walk, Hypotonia, Generalized hypotonia, Dysphagia, Spa... ORPHA:70472
Tremor-Ataxia-Central Hypomyelination Syndrome
Postural tremor, Ataxia, Dysphagia, Dysmetria, Spastic dysarthria, Dystonia, Spasticity, Intentio... ORPHA:447896
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Rigidity, Neuromuscular dyspha... ORPHA:227510
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... ORPHA:449291
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... ORPHA:313892
Histidinemia
Hyperactivity ORPHA:2157
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Generalized dystonia, Postural tremor, Ataxia, Rigidity, Focal dystonia, Gait ataxia... ORPHA:98808
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Apraxia, ... OMIM:607485
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Axial hypotonia, Choreoathetosis, Hypertonia, Dystonia, Spasticity OMIM:618451
Mucolipidosis Iv
Hypotonia, Spastic tetraplegia, Generalized hypotonia, Dystonia OMIM:252650
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Axial hypotonia, Hypotonia, Spastic tetraparesis, Dystonia OMIM:617668
Combined Oxidative Phosphorylation Deficiency 35
Spasticity, Generalized hypotonia, Dystonia OMIM:617873
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Rigidity, Agitation, Gait imbalance, Dystonia, Spasticity ORPHA:2828
Autosomal Recessive Spastic Paraplegia Type 53
Upper limb hypertonia, Limb dystonia ORPHA:319199
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Tremor, Cryptorchidism, Optic atrophy, Gait disturba... ORPHA:90321
Hsd10 Disease, Infantile Type
Restlessness, Dystonia, Spastic tetraparesis, Hypotonia, Spastic diplegia, Choreoathetosis, Dysph... ORPHA:391428
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Progressive spastic paraplegia, Neur... ORPHA:466722
Distal Deletion 10Q
Ataxia, Aggressive behavior, Congenital sensorineural hearing impairment, Unsteady gait, Cochlear... ORPHA:96148
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Self-injurious behavior, Hypertonia, Gait disturbance, Attention def... OMIM:300986
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Dystonia, Progressive extrapyramidal muscular rigidity, Dysphagia, Titubation, Ga... ORPHA:225147
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Inap... ORPHA:98794
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy, Difficulty walking ORPHA:320406
Gm1-Gangliosidosis, Type Iii
Ataxia, Dystonia OMIM:230650
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Bilateral sensorineu... ORPHA:309263
Episodic Ataxia, Type 2
Episodic ataxia, Progressive cerebellar ataxia, Dystonia OMIM:108500
Dubowitz Syndrome
Hyperactivity, Cryptorchidism, Protruding ear, Otitis media, Hypocholesterolemia, Low-set ears OMIM:223370
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, EEG with focal spike waves, Posteriorly rotated ears, Ataxia, Tremor, Inab... OMIM:619229
Intellectual Developmental Disorder, Autosomal Dominant 43
Attached earlobe, Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Microtia, Dystonia, Fr... OMIM:616977
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Akinesia, Rigidity, Limb dystonia, Spasticity OMIM:616840
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Loss of ambulation, Gait disturbance, Dystonia OMIM:167320
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Infantile axial hypotonia, Oral-pharyngeal dysphagia, Choreoathetosis, Lower... ORPHA:2524
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity, Aggressive behavior, Hearing impairment OMIM:300958
Metachromatic Leukodystrophy
Ataxia, Hearing impairment, Decreased nerve conduction velocity, Tremor, Tip-toe gait, Gait distu... ORPHA:512
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Generalized hypotonia, Dystonia ORPHA:480907
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, ... OMIM:608643
Rett Syndrome
Gait apraxia, Bruxism, Truncal ataxia, Gait ataxia, Dystonia, Spasticity, Stereotypical hand wrin... OMIM:312750
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Broad-based gait, Hypertonia, Gait disturbance, Arm dystonia, Difficulty wal... ORPHA:79244
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Hypertonia... OMIM:618914
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity, Uplifted earlobe OMIM:300143
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Inability to walk, Hypotonia, Generalized hypotonia, Dystonia, Spasticity OMIM:614739
Parkinson Disease 14, Autosomal Recessive
Axial dystonia, Resting tremor, Upper limb postural tremor, Aggressive behavior, Tremor, Rigidity... OMIM:612953
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Ataxia, Optic atrophy, Tetraplegia, Dysphagia, Fasciculations, Progressive sp... ORPHA:496641
Classic Galactosemia
Ataxia, Postural tremor, Gait disturbance, Gait imbalance, Attention deficit hyperactivity disord... ORPHA:79239
Pyruvate Dehydrogenase Deficiency
Ataxia, Tremor, Hypotonia, Choreoathetosis, Gait disturbance, Dystonia, Spasticity ORPHA:765
13Q12.3 Microdeletion Syndrome
Hyperactivity, Short stature, Impaired pain sensation, Cryptorchidism, Chronic otitis media, Intr... ORPHA:412035
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Short stature, Aggressive behavior, Prominent crus of helix, Pos... OMIM:619695
Ataxia-Oculomotor Apraxia Type 4
Ataxia, Dystonia ORPHA:459033
Autosomal Recessive Spastic Paraplegia Type 78
Progressive spastic quadriplegia, Progressive gait ataxia, Progressive cerebellar ataxia, Difficu... ORPHA:513436
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormal pinna morphology, Corpus callosum atrophy, Optic atrophy, Dystonic gait, Cerebral atroph... ORPHA:480898
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Spasticity, Generalized hypotonia, Dystonia OMIM:613970
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Clumsiness, Compulsive behaviors, Attention deficit hyperactivity disorder, Macrotia, Abn... OMIM:615656
Dilated Cardiomyopathy With Ataxia
Ataxia, Bilateral cryptorchidism, Repetitive compulsive behavior, Atrophy/Degeneration affecting ... ORPHA:66634
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Sensorineural hearing impairment, Choreoathetosis, Attention deficit hyperactivit... ORPHA:261197
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Coenzyme Q10 Deficiency, Primary, 5
Hypertonia, Hypotonia, Generalized hypotonia, Dystonia OMIM:614654
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Hypotonia, Anorexia, Dystonia ORPHA:79312
Warsaw Breakage Syndrome
Postnatal growth retardation, Hypoplasia of the cochlea, Optic disc coloboma, Cupped ear, Intraut... OMIM:613398
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Short stature, Postnatal growth retardation, Sensorineural hearing impairment, Int... OMIM:608747
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r... OMIM:613174
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Galloway-Mowat Syndrome 6
Cerebellar atrophy, Short stature, Growth delay, Intrauterine growth retardation, Abnormal repeti... OMIM:618347
Leber Optic Atrophy
Postural tremor, Ataxia, Dystonia OMIM:535000
Lipoyltransferase 1 Deficiency
Axial hypotonia, Hypotonia, Spastic tetraparesis, Dystonia OMIM:616299
Hengel-Maroofian-Schols Syndrome
Inability to walk, Hypotonia, Gait imbalance, Dystonia, Spasticity OMIM:619641
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Spasticity, Abnormal repetitive mannerisms, Involuntary movements, Dysphagia ORPHA:572013
Hypermanganesemia With Dystonia 1
Tremor, Rigidity, Steppage gait, Dystonia, Spastic paraparesis OMIM:613280
Allan-Herndon-Dudley Syndrome
Axial hypotonia, Ataxia, Spastic tetraplegia, Choreoathetosis, Dystonia, Neonatal hypotonia, Spas... ORPHA:59
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms ORPHA:79155
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Hypotonia, Generalized hypotonia, Truncal ataxia, Intention tremor OMIM:614407
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Pseudobulbar paralysis, Gait disturbance OMIM:125310
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Chorea, Optic atrophy, Progressive gait ataxia, Bilateral se... ORPHA:309271
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Brain atrophy, Intraute... OMIM:620327
Abetalipoproteinemia
Impaired vibratory sensation, Decreased HDL cholesterol concentration, Broad-based gait, Ataxia, ... ORPHA:14
Leigh Syndrome
Ataxia, Hypotonia, Generalized hypotonia, Dystonia, Spasticity OMIM:256000
Myopathy With Extrapyramidal Signs
Hyperactivity, Ataxia, Tremor, Hypotonia, Choreoathetosis, Difficulty walking, Dystonia OMIM:615673
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Hyperactivity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann s... ORPHA:139396
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Progressive cerebellar ataxia, Dystonia, Dysphagia OMIM:618868
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Dystonia, Optic nerve hypoplasia, Inability to walk, Sensorineural h... ORPHA:300570
Congenital Disorder Of Glycosylation, Type Iia
Posteriorly rotated ears, Short stature, Aggressive behavior, Postnatal growth retardation, Senso... OMIM:212066
Liang-Wang Syndrome
Axial hypotonia, Ataxia, Dystonia OMIM:618729
Dystonia-Aphonia Syndrome
Generalized dystonia, Unsteady gait, Gait disturbance, Dysphagia, Oromandibular dystonia ORPHA:412217
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia OMIM:617281
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Attention deficit hyperactivity disorder OMIM:618195
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Dystonia, Tremor, Inability to walk, Optic atro... ORPHA:845
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear ORPHA:261144
Lesch-Nyhan Syndrome
Dystonia, Hypotonia, Opisthotonus, Choreoathetosis, Self-injurious behavior, Dysphagia, Spasticity OMIM:300322
Machado-Joseph Disease
Ataxia, Rigidity, Truncal ataxia, Dysphagia, Limb ataxia, Progressive cerebellar ataxia, Dystonia... OMIM:109150
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Rigidity, Gait ataxia, Progressive cerebellar at... ORPHA:102
Angelman Syndrome
Optic disc pallor, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Tremor, Inabilit... ORPHA:72
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Abnormal neuron morphology, Aggressive behavior, EEG with generalized poly... ORPHA:163681
2,4-Dienoyl-Coa Reductase Deficiency
Ataxia, Hypotonia, Choreoathetosis, Dystonia, Spasticity OMIM:616034
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Spasticity, Ataxia, Dystonia OMIM:617341
Noonan Syndrome
Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Cryptorchidism, Sensorineur... ORPHA:648
Developmental And Epileptic Encephalopathy 38
Dystonia, Axial hypotonia, Ataxia, Limb hypertonia OMIM:617020
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:1929
3P25.3 Microdeletion Syndrome
Ataxia, Sensorineural hearing impairment, Abnormality of the outer ear, Attention deficit hyperac... ORPHA:435638
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms, Involuntary movements, Attention deficit hyperactivity disorder ORPHA:98784
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Abnormal repetitive mannerisms ORPHA:529965
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Cryptorchidism, Head-banging, Low-set ears, Attention deficit hyperactivity d... OMIM:619103
Deafness, Dystonia, And Cerebral Hypomyelination
Dystonia OMIM:300475
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... ORPHA:488618
Blepharophimosis-Impaired Intellectual Development Syndrome
Posteriorly rotated ears, Cryptorchidism, Low-set ears, Attention deficit hyperactivity disorder,... OMIM:619293
Glutaric Acidemia I
Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Dyst... OMIM:231670
Fatty Acid Hydroxylase-Associated Neurodegeneration
Generalized dystonia, Progressive spastic paraparesis, Progressive spastic quadriplegia, Progress... ORPHA:329308
Chylomicron Retention Disease
Hypertriglyceridemia, Impaired proprioception, Steatorrhea, Hypocholesterolemia ORPHA:71
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Brain atrophy, Dyst... OMIM:616875
Hereditary Late-Onset Parkinson Disease
Resting tremor, Dystonia, Impulsivity, Akinesia, Rigidity, Agitation, Shuffling gait, Dysphagia ORPHA:411602
Kleefstra Syndrome 1
Abnormal pinna morphology, Aggressive behavior, Compulsive behaviors, Abnormal repetitive manneri... OMIM:610253
Parkinsonian-Pyramidal Syndrome
Rigidity, Dysphagia, Shuffling gait, Dystonia, Spasticity, Intention tremor ORPHA:171695
Combined Oxidative Phosphorylation Defect Type 13
Axial hypotonia, Choreoathetosis, Lower limb hypertonia, Generalized hypotonia, Limb dystonia ORPHA:319514
Cockayne Syndrome A
Cerebellar atrophy, Abnormal pinna morphology, Short stature, Abnormal auditory evoked potentials... OMIM:216400
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ... OMIM:606232
Niemann-Pick Disease, Type C1
Ataxia, Hypotonia, Dysphagia, Gait ataxia, Generalized hypotonia, Dystonia, Spasticity OMIM:257220
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Abnormal central motor function, Ataxia, Cerebral palsy, Hypertonia, Spastic parap... ORPHA:760
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Choreoathetosis, Hypotonia, Dystonia ORPHA:289916
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Dystonia, Ataxia, Akinesia, Tremor, Rigidity, Phonic tics, Choreoathetosis, Blepha... OMIM:234200
16P11.2P12.2 Microdeletion Syndrome
Hyperactivity, Abnormal pinna morphology, Short stature, Impaired pain sensation, Tics, Low-set e... ORPHA:261211
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Rigidity, Gait ataxia, Progressive cerebellar at... ORPHA:98933
Tangier Disease
Facial diplegia, Hypertriglyceridemia, Impaired temperature sensation, Hypocholesterolemia ORPHA:31150
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Hemidystonia, Aggressive behavior, Tremor, Attention deficit hyperactivity disorder,... OMIM:619680
White-Sutton Syndrome
Cerebellar atrophy, Hyperactivity, Posteriorly rotated ears, Short stature, Aggressive behavior, ... ORPHA:468678
Pontocerebellar Hypoplasia, Type 2B
Axial hypotonia, Dystonia, Hypotonia, Opisthotonus, Dysphagia, Spasticity, Limb hypertonia OMIM:612389
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Hypotonia, Dysmetria, Gait ... OMIM:617988
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Abnormal repetitive mannerisms, Paraplegia, Ataxia ORPHA:927
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Low-set ears, Abnormal temper tantrums, Abnormal repe... ORPHA:457279
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Hypotonia, Hypertonia, Gener... OMIM:272750
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Babinski sign, Cerebral atrophy, Prominent antihelix, Hypertonia, Inappropriate laughter, Spastic... OMIM:615802
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Head titubation, Hypotonia, Truncal ataxia, Dystonia ORPHA:88639
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia OMIM:617301
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Cryptorchidism, Elevated... ORPHA:401973
Posttransplant Acute Limbic Encephalitis
Ataxia, Dystonia ORPHA:163921
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hydrocele t... ORPHA:79330
Cockayne Syndrome B
Severe short stature, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Dec... OMIM:133540
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, Posteriorly rotated ears, Aganglioni... OMIM:270400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Broad-based gait, Ataxia, External ear malformation, Dystonia ORPHA:438216
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Rigidity, Truncal ataxia, Dysphagia, Gait ataxia, Limb ataxia, Steppage gait, Dystonia, Intention... OMIM:258450
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Hyperactivity, Clonus, Hair-pulling, Dysphagia, Protruding ear, Hypsarrhyt... ORPHA:447997
Micro Syndrome
Low-set, posteriorly rotated ears, Short stature, Cryptorchidism, Optic atrophy, Delayed puberty,... ORPHA:2510
Stargardt Disease
Abnormality of visual evoked potentials ORPHA:827
Metachromatic Leukodystrophy
Ataxia, Hypotonia, Spastic tetraplegia, Gait disturbance, Generalized hypotonia, Dystonia OMIM:250100
Combined Malonic And Methylmalonic Acidemia
Axial hypotonia, Dystonia ORPHA:289504
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Hypocholesterolemia OMIM:618810
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Aceruloplasminemia
Torticollis, Ataxia, Akinesia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Blepharospasm, Dystoni... ORPHA:48818
Hypotonia, Ataxia, And Delayed Development Syndrome
Speech apraxia, Cerebellar atrophy, Pain insensitivity, Broad-based gait, Posteriorly rotated ear... OMIM:617330
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata... OMIM:618056
Postencephalitic Parkinsonism
Resting tremor, Oculogyric crisis, Akinesia, Rigidity, Cogwheel rigidity, Dysphagia, Tremor by an... ORPHA:97349
Pilarowski-Bjornsson Syndrome
Speech apraxia, Abnormal repetitive mannerisms OMIM:617682
Pontocerebellar Hypoplasia, Type 2A
Restlessness, Dystonia, Opisthotonus, Dysphagia OMIM:277470
Aicardi-Goutieres Syndrome 4
Spasticity, Dystonia OMIM:610333
Birk-Landau-Perez Syndrome
Axial hypotonia, Facial hypotonia, Limb ataxia, Choreoathetosis, Appendicular hypotonia, Difficul... OMIM:617595
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ataxia, Dystonia, Ne... ORPHA:431361
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Spastic tetraparesis, Dystonia ORPHA:404451
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Loss of ability to walk in early childhood, Inability to walk, Hypotonia, Athetosis, Dystonia, Sp... OMIM:612073
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Broad-based gait, Short stature, Aggressive behavior, Tremor, Abnormal earlobe mor... ORPHA:85293
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea OMIM:607765
Kcnq2-Related Epileptic Encephalopathy
Inability to walk, Hypotonia, Dystonia ORPHA:439218
Joubert Syndrome 6
Oculomotor apraxia, Abnormal repetitive mannerisms, Ataxia OMIM:610688
Mitochondrial Complex I Deficiency, Nuclear Type 13
Spasticity, Generalized dystonia OMIM:618235
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Severe muscular hypotonia, Ataxia, Tremor, Rigidity, Dysphagia, Athetosis, Limb dystonia ORPHA:25
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Short stature, Ataxia, Optic atrophy, Abnormal autonomic nervous system ... OMIM:231550
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat... ORPHA:522077
Asparagine Synthetase Deficiency
Caudate atrophy, Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst sup... OMIM:615574
Pontocerebellar Hypoplasia, Type 17
Paroxysmal dystonia, Axial hypotonia, Spastic tetraplegia, Dysphagia, Limb hypertonia OMIM:619909
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Multifocal epileptiform discharges, EEG with generalized sharp slow waves, Lo... ORPHA:369837
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysphagia, Dysmetria, Athetosis, Diffic... ORPHA:572798
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Abnormal repetitive mannerisms OMIM:618067
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Short stature, Aggressive behavi... ORPHA:96121
Ataxia-Oculomotor Apraxia 4
Ataxia, Dystonia OMIM:616267
Warburg Micro Syndrome 2
Asymmetry of the ears, Postnatal growth retardation, Cryptorchidism, Optic atrophy, Undetectable ... OMIM:614225
Pitt-Hopkins Syndrome
Incoordination, Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Abnormal rep... OMIM:610954
Machado-Joseph Disease Type 1
Dysphagia, Progressive cerebellar ataxia, Progressive gait ataxia, Dystonia, Spasticity ORPHA:276238
Machado-Joseph Disease Type 2
Dysphagia, Progressive cerebellar ataxia, Progressive gait ataxia, Dystonia, Spasticity ORPHA:276241
2Q37 Microdeletion Syndrome
Short stature, Attention deficit hyperactivity disorder, Compulsive behaviors, Conductive hearing... ORPHA:1001
Charge Syndrome
Low-set, posteriorly rotated ears, Facial palsy, External ear malformation, Cryptorchidism, Aplas... ORPHA:138
Leukodystrophy, Progressive, Early Childhood-Onset
Appendicular spasticity, Axial hypotonia, Dystonia OMIM:617762
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set ears, Attention ... OMIM:619575
Combined Oxidative Phosphorylation Deficiency 10
Spasticity, Hypotonia, Dystonia OMIM:614702
Brain-Lung-Thyroid Syndrome
Hyperactivity, Short stature, Ataxia, Abnormal eating behavior, Sensorineural hearing impairment,... ORPHA:209905
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Ataxia, Hypotonia, Dystonia ORPHA:79243
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Broad-based gait, Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior... OMIM:614756
Gm1 Gangliosidosis
Generalized dystonia, Dystonia, Ataxia, Tremor, Unsteady gait, Hypotonia, Gait disturbance, Decer... ORPHA:354
Developmental And Epileptic Encephalopathy 29
Blepharospasm, Spasticity, Axial hypotonia, Limb dystonia OMIM:616339
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Axial hypotonia, Ataxia, Aggressive behavior, Spastic tetraplegia, Gait ata... OMIM:618321
Choreoacanthocytosis
Caudate atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Lar... ORPHA:2388
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Dysphagia, C... OMIM:617527
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Sandifer Syndrome
Abnormal head movements ORPHA:71272
Developmental And Epileptic Encephalopathy 84
Axial hypotonia, Opisthotonus, Generalized hypotonia, Dystonia, Spasticity OMIM:618792
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Spasticity, Hypotonia, Dystonia OMIM:619286
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Dystonia, Axial hypotonia, Dysphagia OMIM:617669
Kleefstra Syndrome
Aggressive behavior, Cryptorchidism, Chronic otitis media, Self-mutilation, Self-injurious behavi... ORPHA:261494
Isolated Atp Synthase Deficiency
Spastic paraplegia, Ataxia, Hypotonia, Dystonia ORPHA:254913
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spastic tetraplegia, Dysphagia, Opisthotonus, Hypotonia, Hypertonia, Limb dystonia, Spasticity OMIM:619847
Autosomal Recessive Cutis Laxa Type 2A
Ataxia, Inability to walk, Hypotonia, Athetosis, Dystonia, Spasticity ORPHA:357058
Gm1 Gangliosidosis Type 1
Diffuse cerebral atrophy, Exaggerated startle response, Low-set ears, Dystonia, Intrauterine grow... ORPHA:79255
Hyperlysinemia
Hyperactivity, Short stature, Tremor, Dysmetria, Opisthotonus, Tip-toe gait, Dysphagia, Hypoplasi... ORPHA:2203
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Ataxia, Hypotonia, Choreoathetosis, Generalized hypotonia, Dystonia, Difficulty... OMIM:610978
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Generalized dystonia, Spastic tetraparesis, Dysphagia, Dystonia OMIM:620358
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Protruding ear, Tics, Otitis media, Compulsive behaviors, Abnormal repetitive mannerisms, Intenti... OMIM:619475
Nmda Receptor Encephalitis
Orthostatic hypotension, Involuntary movements, Oculogyric crisis, Orthostatic tachycardia, Rigid... ORPHA:217253
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials ORPHA:352731
Filippi Syndrome
Dystonia OMIM:272440
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Polydipsia, Hypokalemia, Enlarged vestibular aqueduct ORPHA:18
Developmental And Epileptic Encephalopathy 51
Inability to walk, Hypotonia, Dystonia OMIM:617339
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Hypotonia, Generalized hypotonia, Dystonia OMIM:277410
Supranuclear Palsy, Progressive, 2
Axial dystonia, Postural tremor, Akinesia, Rigidity, Falls, Gait imbalance, Retrocollis, Dysphagia OMIM:609454
Niemann-Pick Disease, Type C2
Ataxia, Hypotonia, Dysphagia, Dystonia, Spasticity, Abnormal repetitive mannerisms OMIM:607625
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Oral-pharyngeal dysphagia, Spastic diplegia, Spastic tetraplegia, Gait ataxia, Gait distu... OMIM:616878
Supranuclear Palsy, Progressive, 1
Axial dystonia, Akinesia, Tremor, Rigidity, Dysphagia, Falls, Gait imbalance, Retrocollis, Limb d... OMIM:601104
Machado-Joseph Disease Type 3
Dysphagia, Progressive cerebellar ataxia, Progressive gait ataxia, Dystonia, Spasticity ORPHA:276244
Cystinosis
Polydipsia, Abnormal repetitive mannerisms, Abnormal pyramidal sign, Gait disturbance ORPHA:213
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Postnatal growth retardation, Cryptorchidism, Sensorineural hearing imp... OMIM:301040
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Gait ataxia, Attention deficit hyperactivity disorder, Compulsive be... ORPHA:476126
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Ataxia, Tremor, Inability to walk, Hypotonia, Truncal ataxia, Athetosis, Generaliz... OMIM:615356
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Axial hypotonia, Limb dystonia OMIM:620269
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Dysphagia, Gait ataxia, Limb ataxia, Progressive gait ataxia, Head tremor, Dystonia OMIM:606002
Wiedemann-Steiner Syndrome
Hyperactivity, Short stature, Rhizomelia, Aggressive behavior, Postnatal growth retardation, Low-... ORPHA:319182
Bainbridge-Ropers Syndrome
Posteriorly rotated ears, Cryptorchidism, Inability to walk, Self-injurious behavior, Low-set ear... OMIM:615485
Alg3-Cdg
Hypertonia, Hypotonia, Spastic tetraparesis, Dystonia ORPHA:79321
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Tremor, Hypotonia, Opisthotonus, Choreoathetosis, Dystonia, Neonatal hypotonia, Spasticity OMIM:616271
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Axial dystonia, Spastic paraplegia OMIM:619026
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Ataxia, Inability to walk, Hypotonia, Bruxism, Dystonia, Stereotypical hand wringing OMIM:617804
Mucopolysaccharidosis Type 2
Otosclerosis, Papilledema, Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Decrea... ORPHA:580
Aicardi-Goutieres Syndrome 1
Axial hypotonia, Inability to walk, Dystonia, Spasticity, Self-mutilation OMIM:225750
Norrie Disease
Cryptorchidism, Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea... ORPHA:649
Argininemia
Hyperactivity, Anorexia, Progressive spastic quadriplegia, Spastic paraparesis, Frequent falls, S... OMIM:207800
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Short stature, Impulsivity, Cerebral atrophy, Protruding ear, Growth delay, M... OMIM:301030
Alternating Hemiplegia Of Childhood
Dystonia, Facial hypotonia, Ataxia, Impulsivity, Aggressive behavior, Anorexia, Oral-pharyngeal d... ORPHA:2131
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Optic ... OMIM:619512
Sandhoff Disease
Orthostatic hypotension, Ataxia, Exaggerated startle response, Impaired temperature sensation OMIM:268800
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Dystonia, Axial hypotonia, Spasticity, Dysphagia ORPHA:500144
Adult-Onset Dystonia-Parkinsonism
Tremor, Rigidity, Dysphagia, Focal dystonia, Dystonia, Spasticity ORPHA:199351
Lipoid Proteinosis
Dystonia, Dysphagia ORPHA:530
Mercury Poisoning
Tremor, Anorexia, Dystonia ORPHA:330021
Gabriele-De Vries Syndrome
Waddling gait, Facial hypotonia, Tremor, Hypotonia, Tip-toe gait, Attention deficit hyperactivity... OMIM:617557
Congenital Disorder Of Glycosylation, Type Ii
Generalized hypotonia, Dystonia OMIM:607906
Developmental Malformations-Deafness-Dystonia Syndrome
Generalized dystonia, Dysphagia ORPHA:79107
Wieacker-Wolff Syndrome
Spasticity, Hypotonia, Generalized hypotonia, Dystonia OMIM:314580
Aicardi-Goutieres Syndrome 9
Axial hypotonia, Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Lower limb hyperton... OMIM:619487
Coach Syndrome 1
Ataxia, Hypotonia, Generalized hypotonia, Dystonia, Spasticity OMIM:216360
Legius Syndrome
Hyperactivity, Short stature, Vestibular schwannoma, Attention deficit hyperactivity disorder, Dy... ORPHA:137605
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620073
Cimdag Syndrome
Spasticity, Ataxia, Hypotonia, Dystonia OMIM:619273
Combined Oxidative Phosphorylation Deficiency 27
Dystonia, Severe muscular hypotonia, Hypotonia, Opisthotonus OMIM:616672
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Cerebellar atrophy, Optic disc pallor, Severe short stature, O... ORPHA:468631
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Rigidity, Truncal ataxia, Dysdiadochokinesis, Hypertonia, Gait disturbance, Difficulty walking, D... ORPHA:309854
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Gait ataxi... ORPHA:513456
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor ORPHA:99819
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Cryptorchidism, Protruding ear, Birth length less than 3rd percentile, Gait di... ORPHA:464311
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Ataxia, Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Gait disturbance, Gait imbalance, Ge... OMIM:300966
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Dystonia OMIM:616113
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Broad-based gait, Dystonia, Hypotonia, Dysdiadochokinesis, Attention deficit hyperactivity disord... OMIM:618891
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Optic nerve hypoplas... OMIM:620330
Caribbean Parkinsonism
Rigidity, Progressive gait ataxia, Action tremor, Dystonia ORPHA:97355
Mitochondrial Complex I Deficiency, Nuclear Type 2
Falls, Hypotonia, Difficulty walking, Dystonia OMIM:618222
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hyperactivity, Short stature, Cryptorchidism, Protruding ear, Gait disturbance... ORPHA:464306
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, EEG with central f... OMIM:301066
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypotonia, Dystonia OMIM:614105
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Head titubation, Dysmetria, Dysphagia, Dystonia, Intention tremor OMIM:619708
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Dystonia ORPHA:453533
Propionic Acidemia
Dystonia, Axial hypotonia, Limb hypertonia OMIM:606054
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ataxia, Hypotonia, Dystonia OMIM:619167
Neuropathy, Congenital Hypomyelinating, 3
Spasticity, Dystonia OMIM:618186
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Difficulty walking, Low-set ears, Overfolded helix, Abnormal repetitive mannerisms OMIM:618653
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Self-mutilation, Dystonia ORPHA:79233
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Short stature, Posteriorly rotated ears, Cryptorchidism, Growth delay, Low-set ear... OMIM:614294
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Ataxia OMIM:620047
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Ataxia, Hypotonia, Dysphagia, Choreoathetosis, Dystonia OMIM:615471
Developmental And Epileptic Encephalopathy 2
Inability to walk, Abnormal repetitive mannerisms, Myoclonus OMIM:300672
Nabais Sa-De Vries Syndrome, Type 2
Neonatal hypotonia, Dystonia OMIM:618829
Triosephosphate Isomerase Deficiency
Tremor, Unsteady gait, Hypotonia, Generalized hypotonia, Dystonia, Spasticity OMIM:615512
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Agitation, Hand tremor ORPHA:424
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Cerebral cortical atrophy OMIM:618201
Intellectual Developmental Disorder, Autosomal Dominant 42
Limb dystonia, Dystonia, Aggressive behavior, Inability to walk, Hypotonia, Phonic tics, Attentio... OMIM:616973
Pseudo-Torch Syndrome 1
Spasticity, Axial hypotonia, Hypotonia, Dystonia OMIM:251290
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Posteriorly rotated ears, Short stature, Cryptorchidism, Cupped ear, Optic atrophy... OMIM:309590
Charge Syndrome
Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Cryptorchidism, Sensor... OMIM:214800
Pyruvate Carboxylase Deficiency
Dystonia, Ataxia, Anorexia, Tremor, Hypotonia, Tip-toe gait, Abnormal temper tantrums, Compulsive... ORPHA:3008
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Niemann-Pick Disease Type C
Limb dystonia, Lower limb spasticity, Axial dystonia, Dystonia, Ataxia, Aggressive behavior, Trem... ORPHA:646
Autosomal Recessive Spastic Paraplegia Type 35
Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Spastic paraplegia, Dysmetria,... ORPHA:171629
Combined Oxidative Phosphorylation Deficiency 29
Spasticity, Generalized hypotonia, Dystonia OMIM:616811
Kinsship Syndrome
Abnormal repetitive mannerisms, Brain atrophy, Low-set ears, Bruxism OMIM:619297
Autosomal Recessive Malignant Osteopetrosis
Tremor, Growth delay, Otitis media, Abnormality of visual evoked potentials, Optic nerve compress... ORPHA:667
Developmental And Epileptic Encephalopathy 100
Chorea, EEG with photoparoxysmal response, Cerebral atrophy, Gait ataxia, Choreoathetosis, Myoclo... OMIM:619777
Arboleda-Tham Syndrome
Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Bilateral cryptorchidi... OMIM:616268
Blepharonasofacial Malformation Syndrome
Torsion dystonia ORPHA:1252
Cardiospondylocarpofacial Syndrome
Decreased testicular size, Posteriorly rotated ears, Congenital sensorineural hearing impairment,... OMIM:157800
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Inability to walk, Pontocerebellar atrophy, Dysphagia, Abnormality of visual evoked... ORPHA:258
Combined Oxidative Phosphorylation Deficiency 57
Hypotonia, Dystonia OMIM:620167
Combined Oxidative Phosphorylation Deficiency 12
Axial hypotonia, Spastic tetraparesis, Hypotonia, Dystonia, Neonatal hypotonia OMIM:614924
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Cryptorchidism, EEG abnormality, Attention deficit hyperactivity disorde... OMIM:619005
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Lower limb spasticity, Axial hypotonia, Dystonia, Ataxia, Impulsivity, Spastic tetraplegia, Hypot... OMIM:619950
Mcleod Syndrome
Compulsive behaviors, Dystonia OMIM:300842
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Dystonia, Hypertonia, Ataxia, Dysphagia ORPHA:480864
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Posteriorly rotated ears, Facial palsy, Short stature, Abnormal repetitive manneri... OMIM:615873
Ataxia-Telangiectasia
Ataxia, Tremor, Inability to walk, Choreoathetosis, Progressive cerebellar ataxia, Dysdiadochokin... OMIM:208900
Filippi Syndrome
Spasticity, Hypotonia, Limb dystonia ORPHA:3255
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Growth delay OMIM:608800
Early Infantile Epileptic Encephalopathy
Hyperactivity, Dystonia, Tremor, Choreoathetosis, Self-injurious behavior, Infantile muscular hyp... ORPHA:1934
Japanese Encephalitis
Anorexia, Tremor, Opisthotonus, Choreoathetosis, Cogwheel rigidity, Pill-rolling tremor, Hyperton... ORPHA:79139
Monosomy 18P
Generalized dystonia, Hypotonia ORPHA:1598
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials ORPHA:79431
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Hyponatremia, Hypoammonemia, Cryptorchidism, Protruding ear, A... ORPHA:534
Neurodevelopmental Disorder With Spasticity And Poor Growth
Axial hypotonia, Generalized dystonia, Ataxia, Opisthotonus, Limb hypertonia, Spasticity, Intenti... OMIM:618076
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Tremor, Axial hypotonia, Oculogyric crisis, Hypertonia ORPHA:1578
Beta-Ureidopropionase Deficiency
Neonatal hypotonia, Hypotonia, Dystonia OMIM:613161
Leigh Syndrome
Dystonia, Ataxia, Spastic diplegia, Dysphagia, Choreoathetosis, Athetosis, Infantile muscular hyp... ORPHA:506
Kufor-Rakeb Syndrome
Oculogyric crisis, Rigidity, Blepharospasm, Hypertonia, Gait disturbance, Difficulty walking, Dys... ORPHA:306674
Schinzel-Giedion Syndrome
Abnormality of the stapes, Aganglionic megacolon, Dysphagia, Hypsarrhythmia, Abnormal cochlea mor... ORPHA:798
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy OMIM:253800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, S... ORPHA:353281
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Orthostatic hypotension due to autonomic dysfunction, Pain insensitiv... ORPHA:642
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Short stature, Cryptorchidism, Growth del... OMIM:619522
Floating-Harbor Syndrome
Restlessness, Broad-based gait, Impulsivity, Aggressive behavior, Cochlear malformation, Compulsi... ORPHA:2044
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Dysphagia, Gait ataxia, Hypertonia, Dystonia, Spasticity, Infantile muscular hypotonia ORPHA:255210
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hypotonia, Limb dystonia OMIM:604377
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Optic atroph... ORPHA:1606
Cadds
Dystonia ORPHA:369942
Sandhoff Disease, Infantile Form
Exaggerated startle response, Cerebral cortical atrophy ORPHA:309155
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short stature, Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Abnormal rep... ORPHA:508498
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Tremor, Hypotonia, Generalized hypotonia, Dystonia, Neonatal hypotonia OMIM:610505
Prader-Willi Syndrome Due To Translocation
Short stature, Head-banging, Abnormal temper tantrums, Compulsive behaviors, Attention deficit hy... ORPHA:177907
Hermansky-Pudlak Syndrome 10
Axial hypotonia, Generalized hypotonia, Dystonia OMIM:617050
Galloway-Mowat Syndrome 1
Axial hypotonia, Ataxia, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity OMIM:251300
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Neonatal hypotonia, Dystonia ORPHA:457193
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Cryptorchidism, Sens... OMIM:619325
Developmental And Epileptic Encephalopathy 89
Spasticity, Hypertonia, Axial hypotonia, Dystonia OMIM:619124
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Posteriorly rotated ears, Hypsarrhythmia, EEG abnormality, Overfolded helix, Abnormal repetitive ... OMIM:301044
Primrose Syndrome
Restlessness, Calcification of the auricular cartilage, Short stature, Ataxia, Aggressive behavio... OMIM:259050
Combined Oxidative Phosphorylation Deficiency 39
Spasticity, Dystonia OMIM:618397
Ogden Syndrome
Torticollis, Short stature, Postnatal growth retardation, Cryptorchidism, Cerebral atrophy, Protr... OMIM:300855
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Exaggerated startle response, Short stature, Dysphagia, EEG with generalized ... OMIM:618367
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Aggressive behavior, Unsteady gait, Choreoathetosis, Hypertonia, Dystonia, Infantile muscular hyp... ORPHA:17
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Tremor, Spasticity, Ataxia, Dystonia OMIM:612199
Arthrogryposis Multiplex Congenita 5
Akinesia, Hand tremor, Hypertonia, Generalized hypotonia, Dystonia OMIM:618947
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... ORPHA:353277
Chromosome 18P Deletion Syndrome
Hypotonia, Dystonia OMIM:146390
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Facial hypotonia, Inability to walk, Athetosis, Dystonia, Impaired oropharyngeal swallow response... ORPHA:404454
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Short stature, Cryptorchidism, Sensorineural hearing impairment, Growt... OMIM:194190
Fucosidosis
Hypotonia, Spastic gait, Spastic tetraplegia, Dystonia OMIM:230000
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Dystonia, Short stature, Broad-based gait, Inabi... ORPHA:438213
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Anorexia ORPHA:79430
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Disproportionate short stature, Abnormal repetitive mannerisms, Opisthotonus ORPHA:508533
Hyperekplexia 3
Exaggerated startle response OMIM:614618
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Tremor, Hypotonia, Hypertonia, Generalized hypotonia, Dysphagia OMIM:617248
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Tremor, Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Low-set ears, ... OMIM:612474
Aicardi-Goutières Syndrome
Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Tremor, Spastic tetraplegia, Hyperto... ORPHA:51
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Broad-based gait, Ataxia, Hypotonia, Dystonia, Loss of ambulation OMIM:256810
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia OMIM:620024
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Inability to walk, Ataxia, Hypotonia, Dystonia OMIM:620083
Wilson Disease
Dystonia, Tremor, Rigidity, Hand tremor, Dysphagia, Limb dystonia OMIM:277900
Slc39A8-Cdg
Inability to walk, Severe muscular hypotonia, Dystonia ORPHA:468699
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Aicardi-Goutieres Syndrome 7
Lower limb spasticity, Axial hypotonia, Spastic tetraparesis, Hypotonia, Hypertonia, Generalized ... OMIM:615846
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Gabriele-De Vries Syndrome
Waddling gait, Facial hypotonia, Oral-pharyngeal dysphagia, Tremor, Hypotonia, Attention deficit ... ORPHA:506358
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Ataxia, Cerebral cortical neurodegeneration, Cerebral atrophy, Abnormality of... OMIM:203700
Neuroleptic Malignant Syndrome
Extrapyramidal muscular rigidity, Oculogyric crisis, Tremor, Agitation, Dysphagia ORPHA:94093
Idiopathic Camptocormia
Dystonia ORPHA:1320
Alobar Holoprosencephaly
Inability to walk, Dysphagia, Attention deficit hyperactivity disorder, Limb dystonia, Infantile ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Inability to walk, Dysphagia, Attention deficit hyperactivity disorder, Limb dystonia, Infantile ... ORPHA:93926
Lobar Holoprosencephaly
Inability to walk, Dysphagia, Attention deficit hyperactivity disorder, Limb dystonia, Infantile ... ORPHA:93924
Semilobar Holoprosencephaly
Inability to walk, Dysphagia, Attention deficit hyperactivity disorder, Limb dystonia, Infantile ... ORPHA:220386
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ataxia, Tremor, Hypotonia, Dysphagia, Dysmetria, Truncal ataxia, Dystonia, Spasticity OMIM:220111
Holoprosencephaly
Spasticity, Hypotonia, Dystonia ORPHA:2162
Mowat-Wilson Syndrome
Broad-based gait, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Short statur... ORPHA:2152
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
Orofaciodigital Syndrome Type 1
Tremor, Ataxia, Dystonia ORPHA:2750
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Aganglionic megacolon, Posteriorly rotated ears, Uplifted earlobe, Short statur... ORPHA:261537
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag... OMIM:309000
Woodhouse-Sakati Syndrome
Choreoathetosis, Dystonia OMIM:241080
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Aganglionic megacolon, Posteriorly rotated ears, Uplifted earlobe, Short statur... ORPHA:261552
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Axial hypotonia, Dystonia OMIM:618278
Woodhouse-Sakati Syndrome
Choreoathetosis, Dystonia ORPHA:3464
Autosomal Recessive Cutis Laxa Type 1
Dystonia ORPHA:90349
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Spasticity, Dystonia, Limb dystonia OMIM:175780

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pcdh15

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pcdh15.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Pcdh15em1(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Pcdh15em1(IMPC)Wtsi PMC6671969

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MGI Allele Allele Type Produced
Pcdh15em1(IMPC)Wtsi Point Mutation Mice
Pcdh15tm88080(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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