Gene Summary

protocadherin 15
Gm9815,  nmf19,  roda,  Ush1f

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

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

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lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

Human diseases caused by Pcdh15 mutations

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

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

The table below shows human diseases associated to Pcdh15 by orthology or direct annotation.

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

Disease Similarity of
Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Involuntary movements, Chorea OMIM:616939
Autosomal Dominant Focal Dystonia, Dyt25 Type
Focal dystonia, Axial dystonia, Craniofacial dystonia, Limb dystonia, Laryngeal dystonia, Tortico... ORPHA:329466
Neuropathy, Hereditary Sensory, Atypical
Babinski sign, Sensory ataxia, Ataxia OMIM:256860
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Dystonia 25
Torticollis, Laryngeal dystonia, Lingual dystonia, Limb dystonia OMIM:615073
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Spastic paraplegia, Laryngeal dystonia, Difficulty walking, Dystonia OMIM:619681
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Primary Dystonia, Dyt17 Type
Torticollis, Craniofacial dystonia, Generalized dystonia ORPHA:370103
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity, Hypotonia DECIPHER:20
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized hypotonia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Dystonia 6, Torsion
Torsion dystonia, Limb dystonia, Laryngeal dystonia, Torticollis, Lingual dystonia, Writer's cram... OMIM:602629
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Auditory Neuropathy, Autosomal Dominant 1
Absence of acoustic reflex, Sensorineural hearing impairment, Abnormal auditory evoked potentials... OMIM:609129
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Episodic ataxia, Clumsiness, Parkinsonism with favorable response to dopaminergic medication OMIM:168885
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Ataxia, Abasia OMIM:209100
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Ataxia, Hearing impairment OMIM:271250
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia ORPHA:3233
Striatonigral Degeneration, Childhood-Onset
Dystonia, Loss of ability to walk, Craniofacial dystonia, Unsteady gait, Hypertonia OMIM:617054
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Dystonia 30
Dystonia, Loss of ability to walk, Leg dystonia, Torticollis, Writer's cramp, Arm dystonia, Oroma... OMIM:619291
Dystonia 4, Torsion, Autosomal Dominant
Torsion dystonia, Generalized dystonia, Limb dystonia, Gait ataxia, Torticollis OMIM:128101
Dystonia 33
Spasticity, Dystonia, Limb dystonia, Axial dystonia OMIM:619687
Opticocochleodentate Degeneration
Spastic tetraplegia, Cochlear degeneration, Optic atrophy, Hearing impairment OMIM:258700
Optic Atrophy 2
Babinski sign, Tremor, Dysdiadochokinesis OMIM:311050
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Dystonia With Cerebellar Atrophy
Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia, Torticollis OMIM:611694
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Generalized dystonia, Focal dystonia, Craniofacial dys... ORPHA:98807
Primary Dystonia, Dyt21 Type
Dystonia, Generalized dystonia, Focal dystonia, Axial dystonia, Blepharospasm, Limb dystonia, Lar... ORPHA:306734
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Dystonia, Focal, Task-Specific
Writer's cramp OMIM:611284
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Vestibular areflexia, Dysmetria, Intention tremor, Sensorineural hearing impairment, Gait ataxia,... ORPHA:504476
Neuhauser-Eichner-Opitz Syndrome
Rigidity, Spasticity, Ataxia, Hypertonia ORPHA:2672
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Usher Syndrome, Type Id
Vestibular dysfunction, Hearing impairment OMIM:601067
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment, Ataxia OMIM:212850
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Myoclonus, Familial, 1
Frequent falls, Falls, Ataxia, Myoclonus OMIM:614937
Primary Dystonia, Dyt6 Type
Dystonia, Generalized dystonia, Blepharospasm, Craniofacial dystonia, Limb dystonia, Laryngeal dy... ORPHA:98806
Non-Syndromic Genetic Deafness
High-frequency hearing impairment, Abnormal speech discrimination, Low-frequency sensorineural he... ORPHA:87884
Developmental And Epileptic Encephalopathy 38
Generalized hypotonia, Dystonia, Ataxia, Hypertonia OMIM:617020
Autism, Susceptibility To, X-Linked 4
Motor tics, Attention deficit hyperactivity disorder OMIM:300830
Cataract-Ataxia-Deafness-Retardation Syndrome
Distal sensory impairment, Ataxia, Adult onset sensorineural hearing impairment OMIM:212710
Spinocerebellar Ataxia Type 23
Dysmetria, Impaired proprioception, Gait ataxia, Progressive cerebellar ataxia, Impaired distal v... ORPHA:101108
Dystonia 31
Generalized dystonia, Leg dystonia, Craniofacial dystonia, Difficulty walking, Writer's cramp, Ar... OMIM:619565
Autosomal Recessive Spastic Paraplegia Type 27
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Spastic paraple... ORPHA:101007
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Dystonia 23
Axial dystonia, Head tremor, Limb dystonia, Gait disturbance, Torticollis, Writer's cramp OMIM:614860
Episodic Ataxia, Type 8
Episodic ataxia, Ataxia, Slurred speech, Intention tremor OMIM:616055
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Spastic tetraplegia, Hyperactivity, Inability to walk, Generalized hypotonia, Hypotonia OMIM:616657
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Autosomal Recessive Spastic Paraplegia Type 56
Spastic gait, Dystonia, Spastic paraplegia, Unsteady gait, Tip-toe gait ORPHA:320411
Friedreich Ataxia
Dysmetria, Dystonia, Impaired proprioception, Cervical spinal cord atrophy, Intention tremor, Ina... ORPHA:95
Intellectual Developmental Disorder, Autosomal Recessive 37
Generalized hypotonia, Hyperactivity, Spasticity, Hypotonia OMIM:615493
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:136600
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Vestibular areflexia, Cerebellar atrophy, Ataxia, Abnormal autonomic nervous system physiology, G... OMIM:614575
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Parkinsonism, Abnormal cranial nerve morphology, Resting tremor, Shuffling gait, Intention tremor... ORPHA:247234
Immunodeficiency 8
Hyperactivity OMIM:615401
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Hypertonia, Dystonia, Oculogyric crisis, Limb hypertonia, Generalized hypotonia, Broad-based gait... OMIM:617384
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia, Slowed slurred speech OMIM:172500
Nystagmus, Hereditary Vertical
Ataxia, Abnormal vestibulo-ocular reflex OMIM:164150
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Spastic paraplegia, Dystonia, Tip-toe gait, Unsteady gait OMIM:615030
Cerebellar Ataxia, Cayman Type
Intention tremor, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait ORPHA:94122
Dystonia 32
Torticollis, Laryngeal dystonia, Limb dystonia OMIM:619637
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Gilles De La Tourette Syndrome
Motor tics, Phonic tics, Attention deficit hyperactivity disorder OMIM:137580
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Ataxia OMIM:617769
Dystonia 15, Myoclonic
Dystonia, Writer's cramp OMIM:607488
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... OMIM:607671
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Deafness, Autosomal Dominant 9
Tinnitus, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Postlingual sensorin... OMIM:601369
Developmental And Epileptic Encephalopathy 7
Generalized hypotonia, Spastic tetraparesis, Dystonia, Hypotonia OMIM:613720
Leukoencephalopathy, Brain Calcifications, And Cysts
Dystonia, Ataxia, Spasticity, Gait disturbance, Tremor OMIM:614561
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Spasticity, At... ORPHA:99852
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Usher Syndrome, Type Ie
Vestibular areflexia, Congenital sensorineural hearing impairment OMIM:602097
Paralysis Agitans, Juvenile, Of Hunt
Rigidity, Dystonia, Tremor, Gait disturbance OMIM:168100
Mohr-Tranebjaerg Syndrome
Dystonia, Focal dystonia, Global brain atrophy, Abnormality of visual evoked potentials, Ankle cl... ORPHA:52368
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Deafness, Autosomal Recessive 103
Vestibular areflexia, Vestibular dysfunction, Sensorineural hearing impairment OMIM:616042
Olivopontocerebellar Atrophy-Deafness Syndrome
EEG abnormality, Ataxia, Cerebral cortical atrophy, Optic atrophy, Hearing impairment, Hypertonia ORPHA:2732
Primary Dystonia, Dyt2 Type
Torsion dystonia, Generalized dystonia, Blepharospasm, Limb dystonia, Torticollis, Difficulty wal... ORPHA:99657
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Spastic gait, Somatic sensory dysfunction, Lower limb spasticity,... ORPHA:101010
Dystonia 28, Childhood-Onset
Dystonia, Craniofacial dystonia, Tip-toe gait, Laryngeal dystonia, Spasticity, Gait disturbance, ... OMIM:617284
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Postural tremor, Difficulty walking ORPHA:85292
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait OMIM:616410
Spinocerebellar Ataxia 6
Progressive cerebellar ataxia, Cerebellar atrophy, Abnormal vestibulo-ocular reflex OMIM:183086
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Hyperactivity, Inability to walk, Rigidity, Gait disturbance, Tremor OMIM:618090
Dystonia With Ringbinden
Dystonia, Gait disturbance OMIM:224550
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Increased circulating ferritin concentration, Spastic tetraplegia, Diffuse ... ORPHA:3240
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity, Dis... OMIM:601382
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Cochlear degeneration, Spastic dysarthria, Head tremor, Impaired vibration sensation in the lower... ORPHA:95433
Spinocerebellar Ataxia 31
Cerebellar atrophy, Sensorineural hearing impairment, Ataxia, Gait ataxia, Limb ataxia OMIM:117210
Intellectual Developmental Disorder, Autosomal Dominant 52
Generalized hypotonia, Hyperactivity OMIM:617796
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity, Hypotonia ORPHA:356996
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Ataxia, Tremor OMIM:615945
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Rigidity, Difficulty walking, Dystonia OMIM:619661
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Progressive hearing impairment, Tinnitus OMIM:193005
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Hypotonia, Inability to walk, Lower limb spasticity, Attention deficit hyperactivity disorder OMIM:619639
Progressive Myoclonic Epilepsy Type 1
Intention tremor, Ataxia, Limb ataxia, Morning myoclonic jerks, Myoclonus ORPHA:308
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Dystonia, Spastic tetraplegia OMIM:618646
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Somatic sensory dysfunction, Sensorineural hearin... ORPHA:320401
Lichtenstein-Knorr Syndrome
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Dystonia, Ataxia, Tremor OMIM:618425
Spastic Ataxia 1, Autosomal Dominant
Spastic paraplegia, Spastic ataxia, Dystonia, Gait disturbance OMIM:108600
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Somatic sensory dysfunction, Impaired proprioception, Fasciculations, Un... ORPHA:95434
Paroxysmal Nonkinesigenic Dyskinesia 1
Torticollis, Paroxysmal dystonia OMIM:118800
Hyperlysinemia, Type I
Hyperactivity, Hypotonia OMIM:238700
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Spastic dysarthria, Spastic paraplegia, Lower limb spasticity, Limb ata... ORPHA:251282
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Ataxia OMIM:208750
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Cochlear aplasia... OMIM:619274
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Abnormal head movements, Ataxia ORPHA:71518
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Writer's cramp, Paroxysmal dystonia ORPHA:163727
Spinocerebellar Ataxia Type 35
Dysmetria, Intention tremor, Progressive cerebellar ataxia, Gait ataxia, Torticollis, Limb ataxia... ORPHA:276193
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Ataxia, Myoclonus, Hypertonia OMIM:612736
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Spastic paraparesis, Unsteady gait, Dysdiadochokinesis, Broad-based ... OMIM:616053
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Dysmetria, Intention tremor, Lower limb spasticity, Ataxia, Unsteady gai... OMIM:616948
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Leukodystrophy, Hypomyelinating, 16
Dysmetria, Dystonia, Intention tremor, Gait ataxia, Generalized hypotonia, Broad-based gait, Hype... OMIM:617964
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Hyperactivity, Poor coordination, Recurrent hand flapping OMIM:309548
Usher Syndrome Type 1
Sensorineural hearing impairment, Ataxia, Vestibular hypofunction, Cerebral cortical atrophy, Abn... ORPHA:231169
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Usher Syndrome, Type If
Impaired tandem gait, Congenital sensorineural hearing impairment, Vestibular dysfunction OMIM:602083
Fraxe Intellectual Disability
Stereotypical body rocking, Clumsiness, Hyperactivity, Recurrent hand flapping ORPHA:100973
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Spastic paraparesis, Unsteady gait, Gait ataxia, Dysdiadochokinesis,... ORPHA:423275
16P11.2P12.2 Microduplication Syndrome
Dystonia, Attention deficit hyperactivity disorder ORPHA:261204
Parkinson Disease 2, Autosomal Recessive Juvenile
Rigidity, Dystonia, Tremor, Gait disturbance OMIM:600116
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Difficulty walking, Myoclonus, Attention deficit hyperactivity disorder OMIM:619191
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor ORPHA:2589
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Dystonia, Ataxia, Generalized hypotonia, Spasticity, Hypotonia OMIM:614458
Spinocerebellar Ataxia 35
Incoordination, Dysmetria, Intention tremor, Ataxia, Torticollis, Babinski sign, Difficulty walking OMIM:613908
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Dystonia, Inability to walk, Athetosis, Ataxia, Generalized hypotonia, Hypotonia OMIM:615159
Nystagmus 4, Congenital, Autosomal Dominant
Abnormal vestibulo-ocular reflex OMIM:193003
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Hyperactivity, Ataxia, Spasticity, Myoclonus, Tremor OMIM:615924
Episodic Ataxia Type 4
Incoordination, Frequent falls, Abnormal head movements, Ataxia ORPHA:79136
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Ataxia, Vestibular hypofunction ORPHA:231183
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Poor fine motor coordination, Attention deficit hyperactivity disorder OMIM:617182
Chromosome Xq21 Deletion Syndrome
Progressive sensorineural hearing impairment, Incomplete partition of the cochlea, Conductive hea... OMIM:303110
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Apraxia, Involuntary movements, Bradykinesia, Limb aprax... ORPHA:240103
Aicardi-Goutieres Syndrome 6
Loss of ability to walk, Rigidity, Dystonia, Tremor OMIM:615010
Spinocerebellar Ataxia Type 28
Kinetic tremor, Dystonia, Head tremor, Limb dystonia, Gait ataxia, Rigidity, Spasticity, Limb ataxia ORPHA:101109
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Dysdiadochokinesis, Cerebellar vermis atrophy, Diffuse cerebellar at... ORPHA:363710
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Tremor OMIM:619561
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia OMIM:128200
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Dystonia 7, Torsion
Torsion dystonia, Hand tremor, Blepharospasm, Torticollis, Writer's cramp, Oromandibular dystonia OMIM:602124
Intellectual Developmental Disorder, Autosomal Recessive 6
Dystonia, Tremor OMIM:611092
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Spasti... OMIM:125250
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Hypotonia, Attention deficit hyperactivity disorder OMIM:204750
Spinocerebellar Ataxia Type 11
Progressive cerebellar ataxia, Gait imbalance, Difficulty walking, Dystonia ORPHA:98767
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dysmetria, Dystonia, Spastic dysarthria, Gait ataxia, Progressive cerebellar ataxia, Spasticity, ... ORPHA:314603
Usher Syndrome, Type Iiib
Truncal ataxia, Optic disc pallor, Ataxia, Hearing impairment OMIM:614504
Dystonia 16
Torticollis, Postural tremor, Limb dystonia, Unsteady gait ORPHA:210571
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Dystonia, Ataxia, Tremor OMIM:615889
Mitochondrial Complex I Deficiency, Nuclear Type 17
Dystonia, Ataxia, Generalized hypotonia, Rigidity, Gait disturbance OMIM:618239
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Intention tremor, Fasciculations, Gait ataxia, Limb ataxia, Truncal ataxia OMIM:613728
Spinocerebellar Ataxia 14
Dysmetria, Focal dystonia, Gait ataxia, Progressive cerebellar ataxia, Attention deficit hyperact... OMIM:605361
Mitochondrial Complex I Deficiency, Nuclear Type 2
Generalized hypotonia, Difficulty walking, Dystonia OMIM:618222
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Shuffling gait, Rigidity, Spasticity, Tremor OMIM:615528
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Gait disturbance, Hearing im... ORPHA:101075
Dystonia 11, Myoclonic
Generalized hypotonia, Hypotonia, Torticollis, Writer's cramp, Tremor OMIM:159900
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Ataxia, Craniofacial dystonia, Spasticity, Gait disturbance OMIM:617282
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dystonia, Spastic tetraplegia OMIM:251280
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic tetraplegia, Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturbance, Oro... OMIM:615643
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Generalized hypotonia, Dystonia OMIM:616763
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Axonal degeneration, Decreased motor nerve conduction velocity... OMIM:601596
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Ankle clonus, Dysmetria, Sensorineural hearing impairment, Poor coordination, Spasticity, Clumsin... OMIM:270500
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor OMIM:616187
Dystonia, Dopa-Responsive
Dystonia, Resting tremor, Cogwheel rigidity, Gait ataxia, Spasticity, Dysdiadochokinesis, Tortico... OMIM:128230
Smith-Magenis syndrome
Hyperactivity, Hypotonia DECIPHER:8
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, Tremor, Frequent falls, Upper motor neuron dysfunction, ... ORPHA:206443
Spinocerebellar Ataxia, Autosomal Recessive 17
Truncal ataxia, Dysmetria, Unsteady gait, Tremor OMIM:616127
Usher Syndrome
Vestibular areflexia, Vestibular dysfunction, Tinnitus, Sensorineural hearing impairment, Ataxia,... ORPHA:886
Developmental And Epileptic Encephalopathy 92
Dystonia, Inability to walk, Ataxia, Spasticity, Difficulty walking OMIM:617829
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Ataxia, Abnormality of the inner ear... ORPHA:705
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Choreoathetosis, Sensorineural hearing impairment, Facial palsy, Absent brainste... OMIM:617519
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Generalized hypotonia, Spasticity, Dystonia OMIM:613970
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Rigidity, Limb dystonia, Tremor OMIM:605407
Spinocerebellar Ataxia, Autosomal Recessive 25
Truncal ataxia, Dysmetria, Ataxia OMIM:617584
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Intellectual Developmental Disorder, Autosomal Recessive 73
Low-set ears, Poor coordination, Recurrent hand flapping, Gait ataxia, Posteriorly rotated ears OMIM:619717
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Macrotia, Hyperkinetic movements ORPHA:397933
Infantile-Onset Spinocerebellar Ataxia
Ataxia, Abnormality of the autonomic nervous system, Optic atrophy, Hearing impairment ORPHA:1186
Mitochondrial Complex I Deficiency, Nuclear Type 23
Generalized hypotonia, Dystonia OMIM:618244
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Ataxia, Decreased nerve conduction velocity, Gait disturbance, Hearing i... ORPHA:101078
Oxoglutarate Dehydrogenase Deficiency
Dysmetria, Dystonia, Unsteady gait, Gait ataxia, Rigidity, Hypotonia, Falls OMIM:203740
Spastic Paraplegia 80, Autosomal Dominant
Dystonia, Spastic paraplegia, Lower limb spasticity, Gait disturbance, Limb ataxia, Upper limb sp... OMIM:618418
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Hyperactivity, Ataxia, Spasticity, Tremor OMIM:612716
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dystonia, Inability to walk, Ataxia, Generalized hypotonia, Spasticity OMIM:618276
Developmental And Epileptic Encephalopathy 27
Generalized hypotonia, Spasticity, Dystonia, Hypotonia OMIM:616139
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, Tremor, Ataxia, D... ORPHA:1368
Spinocerebellar Ataxia, Autosomal Recessive 6
Dysmetria, Intention tremor, Ataxia, Gait ataxia, Spasticity, Clumsiness OMIM:608029
Dystonia 24
Torticollis, Blepharospasm, Head tremor, Oromandibular dystonia OMIM:615034
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Rigidity, Bradykinesia, Dysdiadochokinesis ORPHA:228169
Spinocerebellar Ataxia 28
Dystonia, Gait ataxia, Spasticity, Limb ataxia, Hypertonia OMIM:610246
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Distal sensory impairme... OMIM:601455
Branchiootic Syndrome 1
Cupped ear, Low-set ears, Sensorineural hearing impairment, Microtia, Cochlear malformation, Mixe... OMIM:602588
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Action tremor, Parkinsonism, Intention tremor, Bradykinesia, Ataxia, Uns... ORPHA:98762
Deafness, X-Linked 2
Conductive hearing impairment, Progressive sensorineural hearing impairment, Congenital sensorine... OMIM:304400
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Dystonia, Ataxia, Short stature, Postnatal growth retardation OMIM:616113
Distal Monosomy 3P
Low-set, posteriorly rotated ears, Spasticity, Abnormal vestibulo-ocular reflex, Hearing impairment ORPHA:1620
Spinocerebellar Ataxia, Autosomal Recessive 29
Generalized dystonia, Inability to walk, Lower limb spasticity, Ataxia, Hypotonia OMIM:619389
Myoclonus-Dystonia Syndrome
Torticollis, Dystonia, Writer's cramp ORPHA:36899
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Ataxia, Tremor OMIM:616421
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
3-Methylglutaconic Aciduria Type 3
Ataxia, Spastic paraparesis, Choreoathetosis, Gait disturbance ORPHA:67047
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Limb dystonia, Vocal tremor, Torticollis, Upper limb postural tremor,... ORPHA:420485
Spinocerebellar Ataxia 19
Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Truncal ataxia, Limb ataxia, Postu... OMIM:607346
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Tremor OMIM:619647
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Short stature, Hyperactivity, Intrauterine growth retardation OMIM:608747
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Hypertonia, Fasciculations, Lo... OMIM:618598
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Generalized hypotonia, Inability to walk, Dystonia, Spasticity OMIM:617820
Neurodegeneration With Brain Iron Accumulation
Rigidity, Dystonia, Spasticity ORPHA:385
Huntington Disease-Like 3
Abnormal pyramidal sign, Extrapyramidal dyskinesia, Extrapyramidal muscular rigidity, Spasticity,... ORPHA:157946
Striatonigral Degeneration, Infantile
Spasticity, Dystonia OMIM:271930
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Clonus, Nonprogressive cerebellar ataxia, Dysdiadochokinesis, Babins... OMIM:301310
Hemidystonia-Hemiatrophy Syndrome
Dystonia, Limb dystonia ORPHA:306741
Adult Krabbe Disease
Tetraparesis, Somatic sensory dysfunction, Frequent falls, EEG abnormality, Impaired tactile sens... ORPHA:206448
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Dystonia, Ataxia OMIM:619196
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Spastic gait, Hemidystonia OMIM:619052
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Enlarged cochlear aque... ORPHA:90646
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... ORPHA:101110
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Paraparesis, Gait disturbanc... ORPHA:99014
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Generalized hypotonia, Spasticity, Dystonia, Hypotonia OMIM:616277
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Lower limb spasticity, Rigidity, Scissor gait, Tremor OMIM:260300
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Blepharospasm, Torticollis, Tremor OMIM:224500
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Oromandibular dystonia, Spasticity, Scissor gait, Loss of ambulation, Infantile axial h... ORPHA:521406
Leukodystrophy, Hypomyelinating, 9
Dysmetria, Intention tremor, Ataxia, Spasticity, Abnormality of extrapyramidal motor function OMIM:616140
Hyperprolinemia, Type I
Generalized hypotonia, Hyperactivity, Ataxia, Hypotonia OMIM:239500
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Ataxia, Gait ataxia, Spasticity, Tremor OMIM:607317
Dystonia 12
Torticollis, Dystonia, Tremor, Unsteady gait OMIM:128235
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Rigidity, Dystonia, Ataxia, Tremor ORPHA:401901
Juvenile Huntington Disease
Hyperactivity, Bradykinesia, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Rigidity, Broad-... ORPHA:248111
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor OMIM:314250
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Spastic tetraplegia, Dystonia, Ataxia, Infantile muscular hypotonia ORPHA:263410
Spinocerebellar Ataxia 12
Dysmetria, Action tremor, Axial dystonia, Head tremor, Progressive cerebellar ataxia, Dysdiadocho... OMIM:604326
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Cerebellar atrophy, EEG abnormality, Dysmetria, Frequent falls, ... ORPHA:157941
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Inability to walk, Lower limb spasticity, Ataxia, Generalized hypotonia, Hypotonia, Wad... OMIM:616756
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity, Attention deficit hyperactivity disorder OMIM:618878
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Episodic Kinesigenic Dyskinesia 2
Dystonia OMIM:611031
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Fasciculations, Bradykinesia, Ataxia, Rigidity, Spasticity OMIM:183050
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea OMIM:618760
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Hypotonia, Dystonia, Broad-based gait, Attention deficit hyperactivity disorder OMIM:619157
Urocanic Aciduria
Action tremor, Ataxia, Gait ataxia, Truncal ataxia, Broad-based gait ORPHA:210128
Alternating Hemiplegia Of Childhood 2
Dystonia, Ataxia OMIM:614820
Optic Atrophy 11
Dysmetria, Optic atrophy, Hyperkinetic movements, Hyperactivity, Ataxia, Short stature, Macrotia,... OMIM:617302
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Dysmetria, Impaired vibratory sensation, Oculomotor apraxia, Progressive cerebellar ataxia, Progr... ORPHA:284324
Adult-Onset Autosomal Dominant Leukodystrophy
Atrophy of the spinal cord, Orthostatic hypotension, Action tremor, Clonus, Tremor, Dysmetria, Ab... ORPHA:99027
Spinocerebellar Ataxia, X-Linked 4
Abnormal pyramidal sign, Ataxia, Tremor OMIM:301840
Pyruvate Dehydrogenase E2 Deficiency
Ataxia, Oculomotor apraxia, Choreoathetosis, Jerky head movements OMIM:245348
Cln5 Disease
Abnormality of visual evoked potentials, Poor gross motor coordination, Tremor, Cerebellar atroph... ORPHA:228360
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy, Ataxia ORPHA:85297
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Dystonia, Cerebellar atrophy, Oculomotor apraxia, Ataxia, Gai... OMIM:617145
Autosomal Recessive Non-Syndromic Intellectual Disability
EEG with focal epileptiform discharges, Cerebral atrophy, Dystonia, Motor stereotypy, Hyperactivi... ORPHA:88616
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Gait ataxia, Babinski sign, Limb ataxia, Clumsiness, Postur... OMIM:609270
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait, Distal sensory impairment, Dysdiadochokines... OMIM:617633
Spastic Ataxia 3, Autosomal Recessive
Dysmetria, Dystonia, Gait ataxia, Spasticity, Spastic ataxia OMIM:611390
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Ataxia, Progressive extrapyramidal movement disorder, Chorea, Abnormal ... ORPHA:382
Mitochondrial Complex I Deficiency, Nuclear Type 3
Generalized hypotonia, Dystonia, Ataxia OMIM:618224
Amyotrophic Lateral Sclerosis 2, Juvenile
Spastic tetraparesis, Spastic gait, Dystonia, Spastic dysarthria, Spasticity of pharyngeal muscle... OMIM:205100
Charcot-Marie-Tooth Disease Type 1F
Somatic sensory dysfunction, Hand tremor, Impaired proprioception, Impaired vibratory sensation, ... ORPHA:101085
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Spastic tetraparesis, Dystonia ORPHA:67046
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Dysmetria, Spastic gait, Impaired proprioception, Impaired vibratory sensat... ORPHA:96180
Peroxisome Biogenesis Disorder 3B
Sensorineural hearing impairment, Hypocholesterolemia, Steatorrhea OMIM:266510
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Athetosis, Dystonia ORPHA:98809
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Craniofacial dystonia, Limb dystonia, Gait ataxia, Generalized hypotonia, Tortico... ORPHA:71517
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Dysmetria, Dystonia, Sensorineural hearing impairment, Bradykinesia, Arm dystonia... OMIM:601338
Paroxysmal Exertion-Induced Dyskinesia
Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Lower limb spasticity, Ataxia, Par... ORPHA:98811
Leukodystrophy, Hypomyelinating, 14
Generalized hypotonia, Spasticity, Dystonia OMIM:617899
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Increased cerebral lipofuscin, Hypocholesterolemia, Myoclonus, Intention tremor OMIM:610539
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Dystonia, Choreoathetosis, Ataxia, Rigidity, Spasticity, Optic atrophy, Heari... OMIM:612438
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Macrotia, Recurrent hand flapping OMIM:300624
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elevated circulating methylsuccinic acid concentrat... OMIM:618156
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Tremor OMIM:608105
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Hyperactivity, Hypotonia, Broad-based gait, Tremor OMIM:619470
Adult-Onset Cervical Dystonia, Dyt23 Type
Focal dystonia, Axial dystonia, Head tremor, Craniofacial dystonia, Unsteady gait, Limb tremor, T... ORPHA:420492
Aicardi-Goutieres Syndrome 2
Dystonia, Spastic paraplegia OMIM:610181
Spinocerebellar Ataxia 44
Tinnitus, Cerebellar atrophy, Dysmetria, Frequent falls, Ataxia, Gait ataxia, Spasticity, Dysdiad... OMIM:617691
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal pyramidal sign, Progressive cerebellar ataxia, Limb ataxia, Abnormal head movements, Pro... ORPHA:247815
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Ataxia, Generalized hypotonia, Rigidity, Tremor OMIM:617836
Dystonia 34, Myoclonic
Hand tremor, Dystonia, Head tremor, Impaired tandem gait, Torticollis, Writer's cramp OMIM:619724
Hsd10 Disease
Choreoathetosis, Spastic paraparesis, Ataxia, Rigidity, Myoclonus, Gait disturbance, Postnatal gr... ORPHA:391417
Ataxia-Oculomotor Apraxia 4
Dystonia, Ataxia OMIM:616267
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysmetria, Hypertonia, Dysdiadochokinesis, Abnormality of visual evoked ... ORPHA:96
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Spasticity, Cerebral cortical atrophy, Optic atrophy, Tremor OMIM:300983
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Spastic paraplegia, Ataxia, Absent ... ORPHA:1215
Christianson Syndrome
Cerebellar atrophy, Dystonia, Motor stereotypy, Gait ataxia, Neuronal loss in central nervous sys... ORPHA:85278
Syngap1-Related Developmental And Epileptic Encephalopathy
Anteverted ears, Ataxia, Poor coordination, Abnormality of pain sensation, Recurrent hand flappin... ORPHA:544254
Familial Dyskinesia And Facial Myokymia
Dystonia, Resting tremor, Limb hypertonia, Axial hypotonia, Difficulty walking ORPHA:324588
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Choreoathetosis, Paroxysmal dyskinesia, Spastic paraplegia, Paresthesia,... ORPHA:53583
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Dystonia, Oculogyric crisis, Inability to walk, Spasticity, Severe muscular hypotonia OMIM:614254
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Dystonia, Hypotonia OMIM:618497
Rare Non-Syndromic Intellectual Disability
Generalized hypotonia, Spasticity, Difficulty walking, Dystonia ORPHA:101685
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Neurodegeneration, Apr... OMIM:615157
Spastic Paraplegia 53, Autosomal Recessive
Dystonia, Spastic paraplegia, Lower limb hypertonia, Gait disturbance, Upper limb hypertonia OMIM:614898
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic gait, Dystonia, Spastic paraplegia, Lower limb spasticity, Ataxia OMIM:607565
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Spastic tetraparesis, Hyperactivity, Hemiparesis, Hypertonia OMIM:604317
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Ataxia ORPHA:1171
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dysmetria, Dystonia, Intention tremor, Unsteady gait, Gait ataxia, Nonprogressive cerebellar atax... ORPHA:453521
Combined Oxidative Phosphorylation Deficiency 39
Spasticity, Dystonia OMIM:618397
Partington Syndrome
Limb dystonia, Lower limb spasticity, Focal dystonia OMIM:309510
Aminoacylase 1 Deficiency
Generalized hypotonia, Hyperactivity, Hypotonia OMIM:609924
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Laryngeal dystonia, Dystonia OMIM:616398
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Limb dystonia, Hypotonia, Truncal ataxia, Spasticity, Head titubation, Torticollis, Limb ataxia OMIM:617560
Atypical Pantothenate Kinase-Associated Neurodegeneration
Focal dystonia, Oromandibular dystonia, Limb dystonia, Rigidity, Spasticity, Gait disturbance, Tr... ORPHA:216873
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Limb dystonia, Rigidity, Limb ataxia, Hypertonia OMIM:618824
Developmental And Epileptic Encephalopathy 69
Inability to walk, Dystonia, Spastic tetraplegia OMIM:618285
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Prominent ear helix, Motor stereotypy, Inability to walk, Occipital cortical atrop... ORPHA:411986
Potocki-Lupski Syndrome
Hypocholesterolemia, EEG abnormality, Hearing impairment OMIM:610883
Huntington Disease-Like 2
Dystonia, Gait disturbance ORPHA:98934
Gabriele-De Vries Syndrome
Waddling gait, Dystonia, Tremor OMIM:617557
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Dysmetria, Intention tremor, Sensorineural hearing impairment, Ataxia, Decrea... OMIM:612674
Brain Dopamine-Serotonin Vesicular Transport Disease
Spastic tetraparesis, Hypertonia, Dystonia, Dysdiadochokinesis, Shuffling gait, Oculogyric crisis... ORPHA:352649
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Aplasia of the semicircular canal, Dilated vestibule of the inn... OMIM:611584
Glut1 Deficiency Syndrome 2
Dystonia, Ataxia, Tremor OMIM:612126
Partington Syndrome
Lower limb spasticity, Limb dystonia, Gait disturbance ORPHA:94083
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Dystonia, Tremor, Hypotonia OMIM:261630
Pontocerebellar Hypoplasia, Type 2C
Dystonia OMIM:612390
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Rigidity, Gait disturbance, Postural tremor, Tremor ORPHA:314632
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Dystonia ORPHA:98810
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hearing impairment, Hypercholester... OMIM:144300
Spinocerebellar Ataxia Type 1
Abnormality of somatosensory evoked potentials, Atrophy/Degeneration affecting the brainstem, Cer... ORPHA:98755
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Hypertonia, Blepharospasm, Generalized hypotonia, Hypotonia, Torticollis, Write... OMIM:128100
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Spastic tetraplegia, Abnormality o... OMIM:256600
Dystonia 21
Torticollis, Blepharospasm, Laryngeal dystonia OMIM:614588
Autism Spectrum Disorder Due To Auts2 Deficiency
Repetitive compulsive behavior, Low-set ears, Motor stereotypy, Hyperactivity, Cerebral palsy, Sh... ORPHA:352490
Spinocerebellar Ataxia Type 36
Dysmetria, Hand tremor, Intention tremor, Head tremor, Fasciculations, Ataxia, Truncal ataxia, To... ORPHA:276198
Autosomal Recessive Dopa-Responsive Dystonia
Focal dystonia, Generalized dystonia, Oculogyric crisis, Ataxia, Limb dystonia, Gait ataxia, Gene... ORPHA:101150
Spinocerebellar Ataxia 4
Progressive cerebellar ataxia, Distal sensory impairment, Babinski sign, Limb dysmetria OMIM:600223
Pelizaeus-Merzbacher Disease, Classic Form
Spastic tetraparesis, Dystonia, Head tremor, Athetosis, Ataxia, Axial hypotonia, Dystonic gait, S... ORPHA:280219
Spastic Paraplegia 26, Autosomal Recessive
Spastic gait, Dysmetria, Dystonia, Spastic paraplegia, Ataxia, Lower limb spasticity, Tip-toe gai... OMIM:609195
Multiple Mitochondrial Dysfunctions Syndrome 6
Dysmetria, Dystonia, Ataxia, Generalized hypotonia, Spasticity OMIM:617954
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dysmetria, Dystonia, Ataxia, Generalized hypotonia, Spasticity OMIM:618088
Parkinsonism-Dystonia 1, Infantile-Onset
Hypertonia, Dystonia, Oculogyric crisis, Oromandibular dystonia, Limb dystonia, Cogwheel rigidity... OMIM:613135
Atypical Rett Syndrome
Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involuntary movements, Loss of ability... ORPHA:3095
Pelizaeus-Merzbacher Disease
Dystonia, Choreoathetosis, Abnormality of visual evoked potentials, Ataxia, Short stature, Cerebr... ORPHA:702
Spinocerebellar Ataxia Type 17
Dystonia, Blepharospasm, Ataxia, Rigidity, Spasticity, Gait disturbance, Torticollis, Writer's cramp ORPHA:98759
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Spasticity, Dystonia OMIM:614249
Leber Congenital Amaurosis 1
Eye poking, Optic disc drusen, Hyperthreoninemia, Sensorineural hearing impairment OMIM:204000
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
EEG abnormality, Low-set ears, Hyperactivity, Inability to walk, Spasticity, Brain atrophy, Tremor OMIM:618718
Parkinson Disease 6, Autosomal Recessive Early-Onset
Rigidity, Dystonia, Resting tremor OMIM:605909
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Cerebellar atrophy, Dystonia, Motor stereotypy, Spastic dysarthri... ORPHA:280763
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Tremor OMIM:619651
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Hypotonia ORPHA:139406
Jeavons Syndrome
EEG with focal epileptiform discharges, Interictal epileptiform activity, EEG with photoparoxysma... ORPHA:139431
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Cerebral atrophy, EEG abnormality, Macrotia, Recurrent hand flapping OMIM:617268
Spinocerebellar Ataxia 34
Abnormal pyramidal sign, Intention tremor, Fasciculations, Ataxia, Gait ataxia, Spasticity, Dysdi... OMIM:133190
Spastic Paraplegia 47, Autosomal Recessive
Dystonia, Inability to walk, Spastic paraplegia, Neonatal hypotonia, Spasticity, Waddling gait OMIM:614066
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity, Cerebral atrophy, Cerebellar atrophy, Cortical myoclonus, Abn... ORPHA:168491
Intellectual Developmental Disorder, Autosomal Dominant 7
Incoordination, Intrauterine growth retardation, Stereotypical hand wringing, Hyperactivity, Atax... OMIM:614104
Episodic Ataxia, Type 9
Episodic ataxia, Dystonia OMIM:618924
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Tinnitus, Vocal cord paresis, Abnormality of visual evoked potentials, Steppage gait, Mild neuros... OMIM:601152
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Hyperactivity, Gait ataxia, Posteriorly rotated ears, Macrotia OMIM:609425
Dystonia 16
Limb dystonia, Laryngeal dystonia, Gait disturbance, Retrocollis, Postural tremor OMIM:612067
Familial Infantile Bilateral Striatal Necrosis
Spastic tetraparesis, Dystonia, Loss of ability to walk, Ataxia, Cogwheel rigidity, Gait ataxia, ... ORPHA:225154
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Cerebral atrophy, Spasticity ORPHA:500545
Encephalopathy, Recurrent, Of Childhood
Incoordination, Choreoathetosis, Intention tremor, Athetosis, Chorea, Truncal ataxia, Babinski sign OMIM:130950
Mannosidosis, Beta A, Lysosomal
Generalized hypotonia, Hyperactivity, Hypotonia OMIM:248510
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dysmetria, Dystonia, Ataxia, Generalized hypotonia, Hypotonia OMIM:250620
Alternating Hemiplegia Of Childhood 1
Dystonia OMIM:104290
Familial Paroxysmal Ataxia
Tinnitus, Dystonia, Cerebellar vermis atrophy, Ataxia, Hemiplegia, Torticollis, Vertigo ORPHA:97
Developmental And Epileptic Encephalopathy 16
Severe muscular hypotonia, Generalized hypotonia, Dystonia OMIM:615338
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy, Macrotia OMIM:300928
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Macrotia, Gait disturbance, Upper limb spasticity, Hyperkinetic movements, Tremor ORPHA:457240
Ogden Syndrome
Cerebral atrophy, Low-set ears, Shuffling gait, Postnatal growth retardation, Abnormal head movem... ORPHA:276432
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dysmetria, Dystonia, Ataxia OMIM:618317
Aicardi-Goutieres Syndrome 3
Generalized hypotonia, Spasticity, Dystonia, Hypotonia OMIM:610329
Spinocerebellar Ataxia 15
Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Difficulty walking, Ataxia OMIM:616684
Mitochondrial Myopathy With Lactic Acidosis
Dysmetria, Dystonia, Tip-toe gait, Generalized hypotonia, Spasticity, Hypotonia OMIM:251950
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Spastic tetraparesis, Opisthotonus, Dystonia, Generalized dystonia, Inability to walk, Spasticity OMIM:619653
Spinocerebellar Ataxia Type 2
Kinetic tremor, Dystonia, Progressive cerebellar ataxia, Gait ataxia, Generalized hypotonia, Post... ORPHA:98756
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Rigidity, Falls, Dystonia, Tremor ORPHA:240085
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral atrophy, Spastic tetraplegia, Sensorineural hearing impairment, Spastic paraparesis, Aga... OMIM:609136
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Dystonia, Ataxia, Generalized hypotonia, Spasticity, Hypotonia, Falls OMIM:619224
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic tetraparesis, Dysmetria, Dystonia, Spastic paraplegia, Ataxia, Lower limb spasticity, Dys... OMIM:612319
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Falls, Ataxia OMIM:619150
Baker-Gordon Syndrome
Neonatal hypotonia, Inability to walk, Dystonia, Ataxia OMIM:618218
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Oculogyric crisis, Inability to walk, Difficulty walking, Tremor ORPHA:330050
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Hand tremor, Resting tremor, Shuffling gait, Focal dystonia, Blepharospasm, Lim... ORPHA:53351
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Hyperactivity, Inability to walk, Limb hypertonia, Gait ataxia, Spasticity, Infantile m... ORPHA:500180
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Sensorineural hearing impairment, Ataxia, Decreased nerv... ORPHA:1933
Krabbe Disease
EEG abnormality, Decerebrate rigidity, Decreased nerve conduction velocity, Diffuse cerebral atro... OMIM:245200
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Ataxia, Spastic diplegia OMIM:619065
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Dystonia, Tremor, Hypotonia ORPHA:139485
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Dystonia, Shuffling gait, Resting tremor, Inability to walk, Akines... ORPHA:391411
Peroxisomal Acyl-Coa Oxidase Deficiency
EEG abnormality, Low-set ears, Sensorineural hearing impairment, Abnormality of visual evoked pot... ORPHA:2971
Foxg1 Syndrome
Dystonia, Choreoathetosis, Severe postnatal growth retardation, Motor stereotypy, Stereotypical h... ORPHA:561854
Leukodystrophy, Hypomyelinating, 18
Dysmetria, Dystonia, Spastic tetraplegia, Spasticity, Progressive spasticity OMIM:618404
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Tremor, Ataxia, Rigidity, Hypertonia OMIM:261640
Dystonia 9
Spastic paraplegia, Episodic ataxia, Dystonia OMIM:601042
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebellar atrophy, Abnormal pyramidal sign, Intrauterine growth retardation, Hyperactivity, Tetr... ORPHA:369939
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials, Spasticity OMIM:609304
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Hyperactivity, Lower limb spasticity, Spastic paraplegia, Clonus, B... OMIM:609727
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Blephar... OMIM:607876
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Unsteady gait, Spasticity, Hypertonia OMIM:617435
Canavan Disease
EEG abnormality, Abnormality of visual evoked potentials, Optic atrophy, Hearing impairment, Hype... ORPHA:141
Primary Dystonia, Dyt4 Type
Dysdiadochokinesis, Generalized dystonia, Blepharospasm, Laryngeal dystonia, Gait disturbance, To... ORPHA:98805
Bor Syndrome
Hearing impairment, Atresia of the external auditory canal, Enlarged cochlear aqueduct, External ... ORPHA:107
Lamb-Shaffer Syndrome
Motor stereotypy, Hyperactivity, Mild postnatal growth retardation, Ataxia, Upper motor neuron dy... ORPHA:530983
2,4-Dienoyl-Coa Reductase Deficiency
Neonatal hypotonia, Spasticity, Dystonia, Hypotonia OMIM:616034
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity, Chorea, ... OMIM:619725
Spinocerebellar Ataxia Type 19/22
Poor coordination, Ataxia, Cogwheel rigidity, Limb ataxia, Broad-based gait, Truncal ataxia, Impa... ORPHA:98772
Hypermanganesemia With Dystonia 2
Dystonia, Opisthotonus, Generalized dystonia, Oromandibular dystonia, Inability to walk, Tip-toe ... OMIM:617013
Spastic Ataxia 5, Autosomal Recessive
Dysmetria, Dystonia, Spastic paraparesis, Ataxia, Spasticity, Dysdiadochokinesis, Spastic ataxia OMIM:614487
Parkinsonism-Dystonia 2, Infantile-Onset
Dystonia, Shuffling gait, Oculogyric crisis, Gait ataxia, Tremor OMIM:618049
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Limb dystonia, Hypotonia OMIM:619054
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Metachromatic Leukodystrophy, Late Infantile Form
Frequent falls, Dystonia, Abnormality of visual evoked potentials, Tip-toe gait, Decreased nerve ... ORPHA:309256
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Generalized hypotonia, Dystonia, Ataxia OMIM:618416
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Hyperactivity, Growth delay, Tetraplegia, Optic atrophy, Hypertonia OMIM:274270
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Spastic paraplegia, Optic disc pallor, Exaggerated startle response, Babinski ... OMIM:609541
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia OMIM:250850
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Tetraparesis, Cerebral atrophy, Cerebellar atrophy, Sensorineural hearing impairment, Ataxia, Abn... OMIM:619260
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Dystonia, Spastic tetraplegia, Spastic paraplegia, Ataxia, Unsteady gait, Neonatal hypotonia OMIM:245349
Intellectual Developmental Disorder, Autosomal Recessive 61
EEG abnormality, Low-set ears, Hyperactivity, Spasticity, Posteriorly rotated ears, Babinski sign OMIM:617773
Hemiparkinsonism-Hemiatrophy Syndrome
Generalized hypotonia, Difficulty walking, Dystonia, Tremor ORPHA:306669
Spinocerebellar Ataxia 48
Dysmetria, Dystonia, Ataxia, Gait ataxia, Tremor OMIM:618093
Dentatorubral Pallidoluysian Atrophy
Dysmetria, Action tremor, Choreoathetosis, Impaired proprioception, Blepharospasm, Involuntary mo... ORPHA:101
Dihydrolipoamide Dehydrogenase Deficiency
Generalized hypotonia, Dystonia, Ataxia, Hypotonia OMIM:246900
4Q21 Microdeletion Syndrome
Low-set ears, Tremor, Hearing impairment, Motor stereotypy ORPHA:238750
Dopa-Responsive Dystonia
Dystonia, Generalized dystonia, Oculogyric crisis, Inability to walk, Leg dystonia, Axial hypoton... ORPHA:255
Corticobasal Syndrome
Dystonia, Akinesia, Limb dystonia, Progressive extrapyramidal muscular rigidity, Gait disturbance... ORPHA:454887
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Generalized hypotonia, Inability to walk, Dystonia, Ataxia OMIM:617804
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Blepharospasm, Leg dystonia, Rigidity, Postural tremor OMIM:606324
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Spastic tetraparesis, Dystonia, Abnormal pyramidal sign, Abnormality of visua... ORPHA:35069
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Unsteady gait, Recurrent hand flapping OMIM:615516
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Acrocraniofacial Dysostosis
Abnormality of the outer ear, Conductive hearing impairment, Abnormal auditory evoked potentials,... OMIM:201050
Leukodystrophy, Hypomyelinating, 2
Dystonia, Intention tremor, Spastic paraparesis, Ataxia, Rigidity, Progressive spasticity, Head t... OMIM:608804
Metachromatic Leukodystrophy, Juvenile Form
Frequent falls, Dystonia, Intention tremor, Abnormality of visual evoked potentials, Decreased ne... ORPHA:309263
Basal Ganglia Calcification, Idiopathic, 1
Dystonia, Dysdiadochokinesis, Athetosis, Rigidity, Gait disturbance, Limb dysmetria, Tremor OMIM:213600
Huntington Disease-Like 2
Rigidity, Action tremor, Dystonia OMIM:606438
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Myoclonic spasms, Motor stereotypy, Loss of a... ORPHA:79264
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia OMIM:602066
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Microtia, first degree, Aplasia of the inner ear, Profound sensorineural hearing... OMIM:610706
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Opisthotonus, Axial dystonia, Oromandibular dystonia, Spastic diplegia, Inability to wa... ORPHA:300605
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Fasciculations, EEG with continuous slow activity, Upper motor neuron dysfuncti... ORPHA:275864
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Stereotypical hand wringing, Inability to walk, Gait ataxia, Spasticity, Chorea OMIM:618917
Rett Syndrome
EEG abnormality, Dystonia, Motor stereotypy, Stereotypical hand wringing, Inability to walk, Brad... ORPHA:778
Spinocerebellar Ataxia 17
Dysmetria, Dystonia, Intention tremor, Ataxia, Gait ataxia, Rigidity, Limb ataxia, Broad-based gait OMIM:607136
Parkinson Disease 14, Autosomal Recessive
Rigidity, Dystonia, Spasticity, Tremor OMIM:612953
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dystonia, Resting tremor, Limb hypertonia OMIM:606703
Leber Congenital Amaurosis 2
Eye poking, Optic disc pallor OMIM:204100
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Spasticity, Ataxia OMIM:606777
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Dystonia, Ataxia, Generalized hypotonia, Progressive spasticity, Head titubation, Difficulty walking ORPHA:527497
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Hypertonia ORPHA:1389
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Dystonia, Spastic tetraplegia, Hypotonia OMIM:619301
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Ataxia, Gait ataxia, Bilateral s... ORPHA:1435
Megalocornea-Intellectual Disability Syndrome
EEG abnormality, Hypercholesterolemia, Motor stereotypy, Sensorineural hearing impairment, Ataxia... ORPHA:2479
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Shuffling gait, Hyperactivity, Lower limb spasticity, Broad-based g... ORPHA:3077
Piebald Trait With Neurologic Defects
Ataxia, Hearing impairment OMIM:172850
Joubert Syndrome 33
Oculomotor apraxia, Ataxia OMIM:617767
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Progressive spastic paraplegia, Dystonia, Lower limb spasticity, Ataxia, Unsteady gait, Axial hyp... ORPHA:464282
Glycine Encephalopathy
Hyperactivity, Myoclonus OMIM:605899
Lennox-Gastaut Syndrome
Hyperactivity, Falls, Myoclonus ORPHA:2382
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Short stature, Hyperactivity, Low-set ears OMIM:618342
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Hypocholesterolemia, Macrotia, Hypoalbuminemia OMIM:212065
Classic Pantothenate Kinase-Associated Neurodegeneration