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Gene: Pcdh15 MGI:1891428

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Gene Summary

Name:
protocadherin 15
Synonyms:
Gm9815,  roda,  nmf19,  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 If
Impaired tandem gait, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:602083
Usher Syndrome Type 1
Cerebral cortical atrophy, Sensorineural hearing impairment, Subcortical cerebral atrophy, Ataxia... ORPHA:231169
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
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Autosomal Dominant Focal Dystonia, Dyt25 Type
Lingual dystonia, Limb dystonia, Torticollis, Focal dystonia, Axial dystonia, Craniofacial dyston... ORPHA:329466
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Dystonia 25
Laryngeal dystonia, Limb dystonia, Torticollis, Lingual dystonia OMIM:615073
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Dystonia, Difficulty walking, Laryngeal dystonia, Spastic paraplegia OMIM:619681
Dystonia 4, Torsion, Autosomal Dominant
Gait ataxia, Limb dystonia, Torticollis, Hemidystonia, Torsion dystonia, Dysphagia, Generalized d... OMIM:128101
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Dystonia With Cerebellar Atrophy
Torticollis, Craniofacial dystonia, Dysphagia, Progressive cerebellar ataxia, Dystonia OMIM:611694
Dystonia 30
Writer's cramp, Torticollis, Leg dystonia, Impulsivity, Loss of ambulation, Oromandibular dystoni... OMIM:619291
Dystonia 6, Torsion
Lingual dystonia, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Oromandibular dys... OMIM:602629
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Torticollis, Paroxysmal dystonia, Dysphagia OMIM:118800
Dystonia 17, Torsion, Autosomal Recessive
Focal dystonia, Torticollis OMIM:612406
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity, Hypotonia DECIPHER:20
Dystonia 32
Limb dystonia, Torticollis, Laryngeal dystonia, Dysphagia OMIM:619637
Autism, Susceptibility To, X-Linked 4
Impulsivity, Motor tics, Attention deficit hyperactivity disorder OMIM:300830
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Craniofacial dystonia ORPHA:370103
Dystonia 31
Writer's cramp, Leg dystonia, Craniofacial dystonia, Difficulty walking, Dysphagia, Arm dystonia,... OMIM:619565
Dystonia 33
Spasticity, Limb dystonia, Axial dystonia, Axial hypotonia, Dystonia OMIM:619687
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... OMIM:616515
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment, Ataxia ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment, Ataxia OMIM:271250
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
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
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
Primary Dystonia, Dyt21 Type
Blepharospasm, Paroxysmal dystonia, Limb dystonia, Torticollis, Focal dystonia, Axial dystonia, L... ORPHA:306734
Usher Syndrome, Type Id
Abnormal vestibular function, Hearing impairment OMIM:601067
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment, Optic atrophy OMIM:258700
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Spastic gait, Attention deficit hyperactivity disorder, Cogwheel rigidity, Hypertonia, Dystonia OMIM:618284
Primary Dystonia, Dyt6 Type
Blepharospasm, Lingual dystonia, Limb dystonia, Torticollis, Craniofacial dystonia, Laryngeal dys... ORPHA:98806
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... ORPHA:87884
Ataxia-Deafness-Retardation Syndrome
Progressive sensorineural hearing impairment, Ataxia OMIM:208850
Developmental And Epileptic Encephalopathy 38
Ataxia, Generalized hypotonia, Dystonia, Hypertonia OMIM:617020
Striatonigral Degeneration, Childhood-Onset
Loss of ambulation, Hypotonia, Craniofacial dystonia, Hypertonia, Dysphagia, Steppage gait, Unste... OMIM:617054
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Gait ataxia, Sensorineural hearing impairment, Optic atrophy, Dysdiadochokinesis, Dysmetria, Vest... ORPHA:504476
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Dystonia 23
Writer's cramp, Limb dystonia, Torticollis, Gait disturbance, Head tremor, Axial dystonia OMIM:614860
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Autosomal Recessive Spastic Paraplegia Type 56
Tip-toe gait, Spastic gait, Spastic paraplegia, Unsteady gait, Dystonia ORPHA:320411
Episodic Kinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Paroxysmal dystonia OMIM:128200
Spastic Paraplegia 72, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Hoffmann sign, Spasticity, Tip-toe gait, Spastic... OMIM:615625
Spastic Ataxia 1, Autosomal Dominant
Spastic ataxia, Gait disturbance, Spastic paraplegia, Dysphagia, Dystonia OMIM:108600
Autosomal Recessive Spastic Paraplegia Type 27
Impaired vibration sensation at ankles, Sensorineural hearing impairment, Abnormality of somatose... ORPHA:101007
Parasomnia, Sleep Bruxism Type
Myoclonus, Bruxism OMIM:606840
Striatonigral Degeneration, Infantile
Spasticity, Choreoathetosis, Dystonia, Dysphagia OMIM:271930
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Tip-toe gait, Unsteady gait, Dystonia, Spastic paraplegia OMIM:615030
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Limb hypertonia, Oculogyric crisis, Generalized hypotonia, Attention deficit hyperactivity disord... OMIM:617384
Spinocerebellar Ataxia 6
Cerebral cortical atrophy, Truncal ataxia, Ataxia, Vertigo, Abnormal vestibulo-ocular reflex, Dys... OMIM:183086
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia, Sensorineural hearing impairment, Optic atrophy OMIM:136600
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Gait ataxia, Cerebellar vermis atrophy, Abnormal autonomic nervous system physiology, Limb ataxia... OMIM:614575
Dystonia 15, Myoclonic
Writer's cramp, Dystonia OMIM:607488
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity, Bruxism OMIM:615493
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... OMIM:601369
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity, Bruxism ORPHA:356996
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... OMIM:607671
Friedreich Ataxia
Gait ataxia, Chorea, Gait imbalance, Falls, Impaired visually enhanced vestibulo-ocular reflex, O... ORPHA:95
Spinocerebellar Ataxia Type 23
Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Babinski sign, Impaired propriocep... ORPHA:101108
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Gait disturbance, Ataxia, Tremor, Dystonia OMIM:614561
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dysphagia, Dystonia ORPHA:309169
Spinocerebellar Ataxia 27A
Gait ataxia, Postural tremor, Limb ataxia, Abnormal vestibulo-ocular reflex, Cerebellar atrophy, ... OMIM:193003
Dystonia 16
Postural tremor, Limb dystonia, Torticollis, Dysphagia, Unsteady gait ORPHA:210571
Spinocerebellar Ataxia Type 11
Gait imbalance, Difficulty walking, Dysphagia, Progressive cerebellar ataxia, Dystonia ORPHA:98767
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Deafness, Autosomal Recessive 103
Vestibular areflexia, Sensorineural hearing impairment, Abnormal vestibular function OMIM:616042
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Gait ataxia, Cerebellar cortical atrophy, Shuffling gait, Resting tremor, Akinesia, Dysdiadochoki... ORPHA:247234
Primary Dystonia, Dyt2 Type
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Generali... ORPHA:99657
Ravine Syndrome
Abnormal auditory evoked potentials, Spasticity, Atrophy/Degeneration affecting the brainstem, At... ORPHA:99852
Spinocerebellar Ataxia 37
Ataxia, Tremor, Frequent falls, Dysphagia, Unsteady gait OMIM:615945
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Generalized hypotonia, Ataxia, Hypotonia, Athetosis, Dystonia OMIM:615159
Spastic Paraplegia 87, Autosomal Recessive
Upper limb spasticity, Dystonia, Lower limb spasticity, Spastic gait OMIM:619966
Gilles De La Tourette Syndrome
Phonic tics, Motor tics, Attention deficit hyperactivity disorder OMIM:137580
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Gait disturbance, Tremor, Craniofacial dyston... OMIM:617284
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus OMIM:618915
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Rigidity, Dystonia, Difficulty walking OMIM:619661
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Vestibulocochlear Dysfunction, Progressive
Progressive hearing impairment, Tinnitus, Vestibular areflexia OMIM:193005
Fraxe Intellectual Disability
Hyperactivity, Clumsiness, Recurrent hand flapping, Agitation, Compulsive behaviors, Impulsivity,... ORPHA:100973
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Distal sensory im... OMIM:601382
Spinocerebellar Ataxia 31
Gait ataxia, Sensorineural hearing impairment, Limb ataxia, Ataxia, Cerebellar atrophy OMIM:117210
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia,... OMIM:300614
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torticollis, Torsion dystonia, Tremor, Dysphagia OMIM:224500
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... OMIM:616053
Dystonia With Ringbinden
Gait disturbance, Dystonia OMIM:224550
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Axial hypotonia, Dystonia OMIM:618425
Developmental And Epileptic Encephalopathy 7
Spastic tetraparesis, Hypotonia, Dystonia OMIM:613720
Deafness, Autosomal Dominant 80
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... OMIM:619274
Mohr-Tranebjaerg Syndrome
Global brain atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hear... ORPHA:52368
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Sensorineural hearing impairment, Abnormality of somatosensory evoke... ORPHA:320401
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Increased circulating ferritin con... ORPHA:3240
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Hypotonia, Tremor, Alcoholism OMIM:159900
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Writer's cramp, Paroxysmal dystonia ORPHA:163727
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Poor coordination, Recurrent hand flapping, Agitation, Impulsivity, Stereotypical ... OMIM:309548
Dystonia 24
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia OMIM:615034
Autosomal Dominant Striatal Neurodegeneration
Dysdiadochokinesis, Rigidity, Gait disturbance, Dysphagia, Bradykinesia ORPHA:228169
Spinocerebellar Ataxia 14
Gait ataxia, Focal dystonia, Dysmetria, Attention deficit hyperactivity disorder, Dysphagia, Prog... OMIM:605361
Usher Syndrome, Type If
Impaired tandem gait, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:602083
Pendred Syndrome
Cochlear malformation, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:274600
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Dystonia, Spastic tetraplegia OMIM:618646
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Progressi... OMIM:303110
Usher Syndrome Type 1
Cerebral cortical atrophy, Sensorineural hearing impairment, Subcortical cerebral atrophy, Ataxia... ORPHA:231169
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... OMIM:613908
Parkinson Disease 2, Autosomal Recessive Juvenile
Rigidity, Gait disturbance, Tremor, Dystonia OMIM:600116
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Spasticity, Hyperactivity, Spastic tetraplegia, Inability to walk, Hypotonia OMIM:616657
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Axial hypotonia, Dystonia, Spastic tetraplegia OMIM:251280
Usher Syndrome Type 3
Vestibular hypofunction, Sensorineural hearing impairment, Ataxia, Abnormal cochlea morphology ORPHA:231183
Neurodegeneration With Brain Iron Accumulation 7
Ataxia, Dysmetria, Tremor, Hypotonia, Loss of ambulation, Axial hypotonia, Lower limb spasticity,... OMIM:617916
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Hyperactivity, Choreoathetosis, Ataxia, Tremor, Axial hypotonia, Dystonia OMIM:612716
Spinocerebellar Ataxia, Autosomal Recessive 25
Truncal ataxia, Dysmetria, Ataxia, Babinski sign OMIM:617584
Dystonia 12
Torticollis, Tremor, Dysphagia, Unsteady gait, Dystonia OMIM:128235
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity, EEG abnormality ORPHA:436151
Spinocerebellar Ataxia Type 28
Gait ataxia, Spasticity, Rigidity, Limb dystonia, Limb ataxia, Head tremor, Kinetic tremor, Dystonia ORPHA:101109
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Athetosis, Dystonia ORPHA:98809
Dystonia 7, Torsion
Blepharospasm, Writer's cramp, Torticollis, Hand tremor, Torsion dystonia, Oromandibular dystonia OMIM:602124
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Impaired vibration sensation in the lower limbs, Optic atrophy, Difficulty walking, ... ORPHA:95433
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Spastic paraplegia, Tremor, Diffic... ORPHA:251282
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Gait ataxia, Spasticity, Spastic ataxia, Spastic dysarthria, Dysmetria, Progressive cerebellar at... ORPHA:314603
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Dystonia OMIM:104290
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Hearing impairment, Ataxia OMIM:159800
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Abnormal head movements, Ataxia, Vertigo ORPHA:71518
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Hyperactivity, Ataxia, Tremor, Dystonia OMIM:615924
16P11.2P12.2 Microduplication Syndrome
Dystonia, Attention deficit hyperactivity disorder ORPHA:261204
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Restlessness, Spastic tetraplegia, Ataxia, Dystonia, Infantile muscular hypotonia ORPHA:263410
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Generalized hypotonia, Dystonia OMIM:616763
Hyperphenylalaninemia, Bh4-Deficient, C
Choreoathetosis, Hypotonia, Tremor, Hypertonia, Dysphagia, Dystonia OMIM:261630
Dystonia, Dopa-Responsive
Gait ataxia, Spasticity, Resting tremor, Postural tremor, Writer's cramp, Dysdiadochokinesis, Tor... OMIM:128230
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Spasticity, Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Progressive sen... OMIM:125250
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Hypertonia, Episodic ataxia OMIM:234500
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor OMIM:616291
Smith-Magenis syndrome
Hyperactivity, Hypotonia DECIPHER:8
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Axial hypotonia, Tremor, Dystonia, Agitation OMIM:619651
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Ataxia, Dysphagia ORPHA:1171
Usher Syndrome, Type Iiib
Truncal ataxia, Optic disc pallor, Hearing impairment, Ataxia OMIM:614504
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Hypotonia, Ataxia OMIM:613402
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Limb dystonia, Torticollis, Generalized hypotonia, Craniofacial dyst... ORPHA:71517
Usher Syndrome
Cerebral cortical atrophy, Sensorineural hearing impairment, Abnormal vestibular function, Ataxia... ORPHA:886
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Rigidity, Limb dystonia, Tremor, Axial hypotonia OMIM:605407
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Choreoathetosis, Ataxia, Dysmetria, Hypotonia, Loss of ambulation, Dysphagia, Dystonia OMIM:618088
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Generalized hypotonia, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Ataxia... ORPHA:705
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Unsteady gait,... OMIM:616948
Developmental And Epileptic Encephalopathy 92
Spasticity, Inability to walk, Ataxia, Difficulty walking, Dystonia OMIM:617829
Branchiootic Syndrome 1
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... OMIM:602588
Spastic Paraplegia 80, Autosomal Dominant
Upper limb spasticity, Gait disturbance, Limb ataxia, Spastic paraplegia, Lower limb spasticity, ... OMIM:618418
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Limb hypertonia, Rigidity, Loss of ambulation, Dystonia, Pill-rolling... OMIM:615528
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Gait disturbance, Decreased nerve conduction velocity, Dista... OMIM:601455
Dentatorubral-Pallidoluysian Atrophy
Choreoathetosis, Dystonia, Ataxia OMIM:125370
Guanidinoacetate Methyltransferase Deficiency
Chorea, Hyperactivity, Abnormal head movements, Ataxia, Athetosis ORPHA:382
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Spinocerebellar Ataxia, Autosomal Recessive 29
Inability to walk, Ataxia, Hypotonia, Axial hypotonia, Lower limb spasticity, Generalized dystonia OMIM:619389
Deafness, X-Linked 2
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... OMIM:304400
Oxoglutarate Dehydrogenase Deficiency
Gait ataxia, Falls, Rigidity, Dysmetria, Hypotonia, Unsteady gait, Dystonia OMIM:203740
Spinocerebellar Ataxia Type 40
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Unsteady gait,... ORPHA:423275
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Rigidity, Limb dystonia, Gait disturbance, Impulsivity, Focal dystonia, Tremor, Oroma... ORPHA:216873
Neurodegeneration With Brain Iron Accumulation 6
Tip-toe gait, Spastic tetraplegia, Rigidity, Gait disturbance, Spastic paraparesis, Oromandibular... OMIM:615643
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Difficulty walking OMIM:619191
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Axial hypotonia OMIM:619647
Paroxysmal Non-Kinesigenic Dyskinesia
Rigidity, Torticollis, Choreoathetosis, Dystonia ORPHA:98810
Infantile-Onset Spinocerebellar Ataxia
Ataxia, Abnormality of the autonomic nervous system, Hearing impairment, Optic atrophy ORPHA:1186
Paroxysmal Exertion-Induced Dyskinesia
Choreoathetosis, Ataxia, Torsion dystonia, Lower limb spasticity, Dystonia ORPHA:98811
3-Methylglutaconic Aciduria Type 1
Spastic tetraparesis, Progressive cerebellar ataxia, Dystonia ORPHA:67046
Late-Infantile/Juvenile Krabbe Disease
Tetraplegia, Spastic diplegia, EEG with persistent abnormal rhythmic activity, Clumsiness, Impair... ORPHA:206443
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Ataxia OMIM:616113
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Limb dystonia, Torticollis, Upper limb postural tremor, Hand tremor, Oromandibular... ORPHA:420485
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Alternating Hemiplegia Of Childhood 2
Choreoathetosis, Dystonia, Ataxia OMIM:614820
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal choreoathetosis, Paroxysmal dystonia OMIM:602066
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Dystonia, Ataxia OMIM:619196
Hemidystonia-Hemiatrophy Syndrome
Limb dystonia, Dystonia ORPHA:306741
Neurodegeneration With Brain Iron Accumulation
Rigidity, Spasticity, Dystonia ORPHA:385
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... ORPHA:90646
Dystonia 16
Retrocollis, Postural tremor, Limb dystonia, Gait disturbance, Laryngeal dystonia, Dysphagia, Gen... OMIM:612067
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Hyperactivity, Inability to walk, Rigidity, Gait disturbance, Dysmetria, Hypotonia, ... OMIM:618090
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... OMIM:617519
Intellectual Developmental Disorder, Autosomal Recessive 73
Gait ataxia, Poor coordination, Recurrent hand flapping, Low-set ears, Posteriorly rotated ears OMIM:619717
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Hemidystonia, Spastic gait OMIM:619052
Peroxisome Biogenesis Disorder 3B
Sensorineural hearing impairment, Elevated circulating phytanic acid concentration, Ataxia, Steat... OMIM:266510
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Dysmetria, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar... OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Torticollis, Ataxia, Tremor, Axial hypotonia, Dystonia OMIM:607317
Distal Monosomy 3P
Low-set, posteriorly rotated ears, Abnormal vestibulo-ocular reflex, Hearing impairment ORPHA:1620
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Inability to walk, Writer's cramp, Torticollis, Generalized hypotonia, Torsion dys... OMIM:128100
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Conductive hearing impairment, Inability to walk, Stereotypical hand wringing, Myoclonus, Choreoa... OMIM:618497
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Low-set ears, Recurrent hand flapping, Posteriorly rotated ears OMIM:618147
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Dysphagia, Unsteady gait ORPHA:284271
Parkinson Disease 15, Autosomal Recessive Early-Onset
Rigidity, Scissor gait, Tremor, Lower limb spasticity, Dystonia OMIM:260300
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor OMIM:314250
Myoclonus-Dystonia Syndrome
Writer's cramp, Torticollis, Dystonia ORPHA:36899
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, Ataxia, Tremor, D... ORPHA:1368
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Rigidity, Tremor, Dystonia, Ataxia ORPHA:401901
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Distal sensory impairment, Difficulty walking, Tongue ... OMIM:601596
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Scissor gait, Tremor, Dystonia, Loss of ambulation, Oromandibular dystonia, Infantile... ORPHA:521406
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Gait ataxia, Recurrent hand flapping, Hand tremor, Dysphagia, Broad-based gait OMIM:617862
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Generalized hypotonia, Ataxia, Hypotonia, Lower limb spasticity, Dystonia, Bro... OMIM:616756
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Choreoathetosis, Dystonia, Episodic ataxia, Spastic paraplegia ORPHA:53583
Urocanase Deficiency
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait OMIM:276880
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Spasticity, Choreoathetosis, Dystonia, Axial hypotonia OMIM:614249
Juvenile Huntington Disease
Gait ataxia, Hyperactivity, Oral motor hypotonia, Rigidity, Ataxia, Progressive cerebellar ataxia... ORPHA:248111
Episodic Kinesigenic Dyskinesia 2
Dystonia OMIM:611031
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Gait ataxia, Spasticity, Truncal ataxia, Episodic ataxia, Gait disturbance, Ataxia, Hypotonia, Di... OMIM:614458
Spinocerebellar Ataxia, Autosomal Recessive 17
Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Broad-based gait, Dysmetria, Hypotonia, Appendi... OMIM:616127
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Hypotonia, Attention deficit hyperactivity disorder, Broad-based gait OMIM:619157
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Resting tremor, Difficulty walking, Axial hypotonia, Dystonia ORPHA:324588
Fragile X Syndrome
Recurrent hand flapping, Macrotia, Hyperactivity, Abnormal head movements OMIM:300624
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Dysdiadochokinesis, Oculogyric crisis, Ataxia, Hypotonia, Tremor, Axial hypotonia... OMIM:618049
Adult Krabbe Disease
Hoffmann sign, Somatic sensory dysfunction, Progressive spastic paraparesis, Spasticity, EEG abno... ORPHA:206448
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Hand tremor, Paroxysmal dystonia OMIM:608105
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Dysphagia OMIM:300857
Squalene Synthase Deficiency
Macrotia, Decreased LDL cholesterol concentration, Optic nerve hypoplasia, Elevated circulating m... OMIM:618156
Hyperprolinemia, Type I
Hypotonia, Hyperactivity, Generalized hypotonia, Ataxia OMIM:239500
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Axial hypotonia OMIM:618760
Mitochondrial Complex I Deficiency, Nuclear Type 23
Hypotonia, Generalized hypotonia, Dystonia OMIM:618244
Spinocerebellar Ataxia, Autosomal Recessive 26
Gait ataxia, Impaired distal vibration sensation, Dysdiadochokinesis, Oculomotor apraxia, Limb at... OMIM:617633
Mitochondrial Complex I Deficiency, Nuclear Type 3
Generalized hypotonia, Dystonia, Ataxia OMIM:618224
Dystonia 28
Torticollis, Leg dystonia, Attention deficit hyperactivity disorder, Oromandibular dystonia, Dysp... ORPHA:589618
Mitochondrial Complex I Deficiency, Nuclear Type 17
Rigidity, Gait disturbance, Ataxia, Hypotonia, Generalized dystonia, Dystonia OMIM:618239
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Spasticity, Hypotonia, Dystonia, Inability to walk OMIM:617820
Dystonia 21
Torticollis, Blepharospasm, Laryngeal dystonia OMIM:614588
Distal Osteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis OMIM:126250
X-Linked Spinocerebellar Ataxia Type 3
Ataxia, Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Adult-Onset Cervical Dystonia, Dyt23 Type
Writer's cramp, Torticollis, Focal dystonia, Head tremor, Axial dystonia, Craniofacial dystonia, ... ORPHA:420492
Neurodegeneration With Brain Iron Accumulation 3
Spasticity, Blepharospasm, Writer's cramp, Rigidity, Choreoathetosis, Ataxia, Tremor, Laryngeal d... OMIM:606159
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Spasticity, Inability to walk, Ataxia, Hypotonia, Dystonia OMIM:618276
Aicardi-Goutieres Syndrome 2
Dystonia, Spastic paraplegia OMIM:610181
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Spastic tetraparesis, Hypotonia, Tremor, Broad-based gait OMIM:619470
Dystonia 34, Myoclonic
Writer's cramp, Torticollis, Hand tremor, Impaired tandem gait, Head tremor, Dystonia OMIM:619724
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, Falls, Poor coordination, Ataxia, Paroxysmal dyskinesia, Bruxism OMIM:619150
Spinocerebellar Ataxia 44
Gait ataxia, Spasticity, Dysdiadochokinesis, Ataxia, Dysmetria, Frequent falls, Dysphagia OMIM:617691
Developmental And Epileptic Encephalopathy 69
Axial hypotonia, Inability to walk, Dystonia, Spastic tetraplegia OMIM:618285
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Spasticity, Hyperactivity, Limb hypertonia, Inability to walk, Impulsivity, Dysphagi... ORPHA:500180
Spinocerebellar Ataxia Type 6
Gait ataxia, Blepharospasm, Choking episodes, Dysphagia, Unsteady gait, Dystonia, Intention tremo... ORPHA:98758
Episodic Ataxia Type 4
Abnormal head movements, Ataxia, Vertigo ORPHA:79136
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Cerebral cortical atrophy, Optic atrophy, Ataxia, Tremor, Abnormal pinna morphology OMIM:300983
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Spasticity, Rigidity, Choreoathetosis, Gait disturbance, Ataxia, Spastic tetraparesi... ORPHA:225154
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Choreoathetosis, Generalized hypotonia, Tremor, Dysphagia, Dystonia, S... OMIM:233910
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormal autonomic nervous system physiology, Upper motor ne... ORPHA:99027
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Spastic Paraplegia 53, Autosomal Recessive
Gait disturbance, Spastic paraplegia, Upper limb hypertonia, Dystonia, Lower limb hypertonia OMIM:614898
Spinocerebellar Ataxia Type 20
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Intention tremor, Kin... ORPHA:101110
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic gait, Ataxia, Spastic paraplegia, Lower limb spasticity, Dystonia OMIM:607565
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... OMIM:617145
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Spasticity, Optic atrophy, Ataxia, Hypertonia, Clonus, Lower limb s... OMIM:616881
Charcot-Marie-Tooth Disease Type 1F
Gait ataxia, Somatic sensory dysfunction, Sensorineural hearing impairment, Paresthesia, Inabilit... ORPHA:101085
Mepan Syndrome
Spasticity, Limb dystonia, Hemidystonia, Gait disturbance, Ataxia, Axial dystonia, Hypotonia, Cra... ORPHA:508093
Leukodystrophy, Hypomyelinating, 14
Spasticity, Generalized hypotonia, Dystonia OMIM:617899
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Spasticity, Truncal ataxia, Limb dystonia, Torticollis, Limb ataxia, Hypotonia, Head titubation OMIM:617560
Potocki-Lupski Syndrome
Hypocholesterolemia, Hearing impairment, EEG abnormality OMIM:610883
Primary Dystonia, Dyt4 Type
Blepharospasm, Dysdiadochokinesis, Upper limb postural tremor, Torticollis, Gait disturbance, Lar... ORPHA:98805
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Absent brainstem aud... ORPHA:1215
Amyotrophic Lateral Sclerosis 2, Juvenile
Retrocollis, Spasticity, Spasticity of facial muscles, Opisthotonus, Spastic diplegia, Spastic ga... OMIM:205100
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Impaired oropharyngeal swallow response, Limb dyst... ORPHA:53351
Cln5 Disease
Hyperactivity, Cerebral cortical atrophy, Dysdiadochokinesis, Inability to walk, Truncal ataxia, ... ORPHA:228360
Maternal Uniparental Disomy Of Chromosome 4
Decreased LDL cholesterol concentration, Sensorineural hearing impairment, Optic atrophy, Spastic... ORPHA:96180
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Dystonia, Laryngeal dystonia OMIM:616398
Developmental Delay And Seizures With Or Without Movement Abnormalities
Rigidity, Generalized hypotonia, Ataxia, Tremor, Dystonia OMIM:617836
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Rigidity, Limb dystonia, Limb ataxia, Hypertonia, Generalized dystonia OMIM:618824
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Falls, Rigidity, Tremor, Dystonia ORPHA:240085
Huntington Disease-Like 2
Gait disturbance, Dystonia ORPHA:98934
Christianson Syndrome
Gait ataxia, Macrotia, Cerebral cortical atrophy, Truncal ataxia, Abnormal repetitive mannerisms,... ORPHA:85278
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Gait ataxia, Sensorineural hearing impairment, Undetectable visual evoked potentials, Optic atrop... OMIM:601338
Hyperlysinemia, Type I
Hyperactivity, Hypotonia OMIM:238700
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Dysdiadochokinesis, Limb dystonia, Oculogyric crisis, Generalized hypotonia, Gait... ORPHA:352649
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Dysmetria, Unsteady gait, Dystonia... ORPHA:453521
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hearing impairment, Hypercholester... OMIM:144300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Rigidity, Gait disturbance, Disinhibition, Dystonia OMIM:600795
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Intention tremor, Increased cerebral lipofuscin OMIM:610539
Spinocerebellar Ataxia 50
Chorea, Froment sign, Cerebellar vermis atrophy, Postural tremor, Apraxia, Myoclonus, Ataxia, Hea... OMIM:620158
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Spasticity, Inability to walk, Choreoathetosis, Spastic tetraparesis, Axial hypotonia, Opisthoton... OMIM:619653
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Falls, Rigidity, Oculogyric crisis, Choreoathetosis, Agitation, Ataxia, Hypotonia, Dystonia, Hype... ORPHA:13
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Spinocerebellar Ataxia 48
Gait ataxia, Ataxia, Dysmetria, Tremor, Dysphagia, Dystonia OMIM:618093
Pontocerebellar Hypoplasia, Type 2C
Dystonia OMIM:612390
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Gait disturbance, Tremor, Dystonia ORPHA:314632
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic ataxia, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Dysphagia... OMIM:614487
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Choreoathetosis, Ataxia, Hypotonia, Neonatal hypotonia, Generalized dystonia... OMIM:245348
Combined Oxidative Phosphorylation Deficiency 50
Generalized dystonia, Dysphagia OMIM:619025
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Spasticity, Brain atrophy, Inability to walk, EEG abnormality, Tremor, Low-set ears, Bruxism OMIM:618718
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Bilateral sensorineural hearing impairment, Choreoathetosis, Ataxia, Tremor, Growt... OMIM:619422
Dystonia 9
Choreoathetosis, Dystonia, Episodic ataxia, Spastic paraplegia OMIM:601042
Leber Optic Atrophy And Dystonia
Spasticity, Athetosis, Dystonia, Dysphagia OMIM:500001
Behavioral Variant Of Frontotemporal Dementia
Abnormality of extrapyramidal motor function, Gait disturbance, Upper motor neuron dysfunction, A... ORPHA:275864
Partington Syndrome
Limb dystonia, Focal dystonia, Lower limb spasticity OMIM:309510
Lopes-Maciel-Rodan Syndrome
Spasticity, Agitation, Tremor, Hypertonia, Dysphagia, Axial hypotonia, Unsteady gait, Dystonia OMIM:617435
Leukoencephalopathy, Cystic, Without Megalencephaly
Spasticity, Athetosis, Dystonia, Ataxia OMIM:612951
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Rigidity, Gait disturbance, Tremor, Limb dysmetria, Athetosis, Dystonia OMIM:213600
Multiple Mitochondrial Dysfunctions Syndrome 6
Spasticity, Inability to walk, Ataxia, Dysmetria, Hypotonia, Dystonia OMIM:617954
Hsd10 Disease
Frontotemporal cerebral atrophy, Optic atrophy, Choreoathetosis, Gait disturbance, Ataxia, Tremor... ORPHA:391417
Huntington Disease-Like 1
Gait ataxia, Chorea, Cerebral cortical atrophy, EEG abnormality, Abnormal head movements, Gait di... ORPHA:157941
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Inability to walk, Hypsarrhythmia, Multifocal epileptiform discharges... ORPHA:411986
Encephalopathy Due To Prosaposin Deficiency
Hypotonia, Dystonia ORPHA:139406
Spastic Paraplegia 26, Autosomal Recessive
Tip-toe gait, Spastic gait, Upper limb spasticity, Ataxia, Spastic paraplegia, Dysmetria, Difficu... OMIM:609195
Autosomal Recessive Dopa-Responsive Dystonia
Gait ataxia, Postural tremor, Rigidity, Limb dystonia, Oculogyric crisis, Generalized hypotonia, ... ORPHA:101150
Hyperphenylalaninemia, Bh4-Deficient, A
Limb hypertonia, Rigidity, Choreoathetosis, Ataxia, Tremor, Hypertonia, Dysphagia, Axial hypotoni... OMIM:261640
Spinocerebellar Ataxia Type 17
Spasticity, Blepharospasm, Rigidity, Writer's cramp, Torticollis, Gait disturbance, Ataxia, Dystonia ORPHA:98759
Leukodystrophy, Hypomyelinating, 16
Gait ataxia, Shuffling gait, Choreoathetosis, Broad-based gait, Dysmetria, Hypotonia, Hypertonia,... OMIM:617964
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Titubation, Ataxia, Spastic tetraparesis, Dystonic gait, Hypotonia, Head tremor, Diff... ORPHA:280219
Syngap1-Related Developmental And Epileptic Encephalopathy
Macrotia, Poor coordination, Recurrent hand flapping, Gait disturbance, Ataxia, Abnormality of pa... ORPHA:544254
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Oculogyric crisis, Tremor, Difficulty walking, Dystonia ORPHA:330050
Parkinsonism-Dystonia 1, Infantile-Onset
Rigidity, Limb dystonia, Oculogyric crisis, Tremor, Cogwheel rigidity, Hypertonia, Axial hypotoni... OMIM:613135
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Parkinson Disease 6, Autosomal Recessive Early-Onset
Rigidity, Dystonia, Resting tremor OMIM:605909
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... OMIM:600501
Partington Syndrome
Limb dystonia, Gait disturbance, Lower limb spasticity ORPHA:94083
Glycine Encephalopathy
Hyperactivity, Generalized hypotonia, Impulsivity, Hypotonia, Restlessness OMIM:605899
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Spasticity, Falls, Generalized hypotonia, Ataxia, Hypotonia, Axial hypotonia, Dystonia OMIM:619224
Developmental And Epileptic Encephalopathy 53
Hypotonia, Dystonia, Spastic tetraplegia OMIM:617389
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Limb dystonia, Torticollis, Choreoathetosis, Ataxia, Hypotonia OMIM:619054
Developmental And Epileptic Encephalopathy 16
Generalized hypotonia, Dystonia, Severe muscular hypotonia OMIM:615338
Episodic Ataxia, Type 9
Dystonia, Episodic ataxia OMIM:618924
Spastic Paraplegia 47, Autosomal Recessive
Spasticity, Inability to walk, Spastic paraplegia, Neonatal hypotonia, Dystonia, Waddling gait OMIM:614066
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macrotia, Bradykinesia, Shuffling gait, Spastic gait, Resting tremor, Spastic tetraplegia, Parkin... OMIM:300055
Developmental And Epileptic Encephalopathy 17
Athetosis, Dystonia OMIM:615473
Dystonia, Juvenile-Onset
Pseudobulbar paralysis, Oculogyric crisis, Leg dystonia, Loss of ambulation, Dysphagia, Generaliz... OMIM:607371
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Bruxism OMIM:300434
Jeavons Syndrome
EEG with hyperventilation-induced epileptiform discharges, Abnormal head movements, EEG with foca... ORPHA:139431
Leukodystrophy, Hypomyelinating, 6
Spasticity, Rigidity, Choreoathetosis, Ataxia, Hypotonia, Tremor, Axial hypotonia, Dystonia OMIM:612438
Leukodystrophy, Hypomyelinating, 9
Pseudobulbar paralysis, Ataxia, Dysmetria, Axial hypotonia, Lower limb spasticity, Dystonia, Inte... OMIM:616140
Mitochondrial Myopathy With Lactic Acidosis
Spasticity, Tip-toe gait, Generalized hypotonia, Dysmetria, Hypotonia, Dystonia OMIM:251950
Spinocerebellar Ataxia 17
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Broad-based gait, Dysmetria, Dysphagia, Dystonia, Int... OMIM:607136
Developmental And Epileptic Encephalopathy 110
Chorea, Spasticity, Macrotia, Continuous spike and waves during slow sleep, Pain insensitivity, L... OMIM:620149
Aicardi-Goutieres Syndrome 3
Spasticity, Hypotonia, Dystonia, Generalized hypotonia OMIM:610329
Mitochondrial Complex I Deficiency, Nuclear Type 8
Axial dystonia, Generalized hypotonia, Dystonia, Dysphagia OMIM:618230
Juvenile Amyotrophic Lateral Sclerosis
Retrocollis, Tip-toe gait, Opisthotonus, Spastic diplegia, Inability to walk, Upper limb spastici... ORPHA:300605
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Short stature, Repetitive compulsive behavior, Abnormal repetitive mannerisms, Com... ORPHA:352490
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Dysdiadochokinesis, Ataxia, Spastic paraplegia, Spastic tetraparesis, Dysmetria, Difficulty walki... OMIM:612319
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dysmetria, Dystonia, Ataxia, Dysphagia OMIM:618317
Spinocerebellar Ataxia 21
Gait ataxia, Postural tremor, Akinesia, Limb ataxia, Ataxia, Impulsivity, Cogwheel rigidity, Prog... OMIM:607454
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Aplasia of the semicircular canal, Hypoplasia of the semicircul... OMIM:611584
Spinocerebellar Ataxia Type 1
Chorea, Abnormal nerve conduction velocity, Gait imbalance, Abnormality of somatosensory evoked p... ORPHA:98755
Spinocerebellar Ataxia 28
Gait ataxia, Spasticity, Limb ataxia, Dystonia, Lower limb hypertonia OMIM:610246
Spinocerebellar Ataxia, Autosomal Recessive 11
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Dysphagia OMIM:614229
Spinocerebellar Ataxia Type 2
Gait ataxia, Postural tremor, Generalized hypotonia, Kinetic tremor, Progressive cerebellar ataxi... ORPHA:98756
Optic Atrophy 11
Hyperactivity, Macrotia, Gait apraxia, Brain atrophy, Optic atrophy, Short stature, Ataxia, Optic... OMIM:617302
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Dysdiadochokinesis, Spastic dysarthria, Ataxia, Spastic paraparesis, Dysmetria, Dysph... ORPHA:313772
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Difficulty walking, Ataxia OMIM:616684
Familial Paroxysmal Ataxia
Torticollis, Dystonia, Ataxia ORPHA:97
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Hypsarrhythmia, Recurrent hand flapping, Gait disturbance, Cerebellar atrophy, A... OMIM:618141
Spinocerebellar Ataxia, Autosomal Recessive 7
Gait ataxia, Postural tremor, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Babinski sign,... OMIM:609270
Glut1 Deficiency Syndrome 2
Tremor, Choreoathetosis, Dystonia, Ataxia OMIM:612126
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Brain atrophy, Abnormal auditory evoked potentials, Ataxia, Tet... OMIM:619260
Bor Syndrome
Atresia of the external auditory canal, Hypoplasia of the cochlea, Abnormality of the middle ear ... ORPHA:107
Atypical Juvenile Parkinsonism
Gait ataxia, Shuffling gait, Akinesia, Resting tremor, Rigidity, Inability to walk, Short stepped... ORPHA:391411
Aicardi-Goutieres Syndrome 6
Rigidity, Loss of ambulation, Tremor, Dystonia OMIM:615010
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Pseudobulbar paralysis, Ataxia, Dysmetria, Dystonia, Difficulty walking, Lower limb spasticity, I... ORPHA:438114
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Dystonia, Spastic diplegia OMIM:619065
Ogden Syndrome
Macrotia, Shuffling gait, Abnormal head movements, Torticollis, Cerebral atrophy, Low-set ears, P... ORPHA:276432
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Spasticity, Spastic dysarthria, Hypotonia, Facial hypotonia, Diff... ORPHA:280763
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Developmental And Epileptic Encephalopathy 27
Spasticity, Hypotonia, Dystonia, Axial hypotonia OMIM:616139
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Chorea, Spasticity, Inability to walk, EEG abnormality, Stereotypical hand wringing, Hyperkinetic... OMIM:614254
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Generalized hypotonia, Dystonia, Difficulty walking ORPHA:306669
Oromandibular Dystonia
Blepharospasm, Lingual dystonia, Limb dystonia, Torticollis, Laryngeal dystonia, Dysphagia, Gener... ORPHA:93958
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Hypotonia, Dystonia, Progressive cerebellar ataxia ORPHA:139485
Mannosidosis, Beta A, Lysosomal
Hypotonia, Hyperactivity, Generalized hypotonia OMIM:248510
Glut1 Deficiency Syndrome 1
Ataxia, Spasticity, Choreoathetosis, Paroxysmal dystonia OMIM:606777
Hypermanganesemia With Dystonia 2
Spasticity, Tip-toe gait, Inability to walk, Limb dystonia, Gait disturbance, Scissor gait, Hypot... OMIM:617013
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Spasticity, Limb hypertonia, Choreoathetosis, Ataxia, Axial hypotonia, Dystonia OMIM:615905
Autosomal Recessive Spastic Paraplegia Type 26
Pseudobulbar paralysis, Dystonia, Lower limb spasticity, Gait disturbance ORPHA:101006
Infantile Convulsions And Choreoathetosis
Athetosis, Choreoathetosis, Dystonia ORPHA:31709
Pelizaeus-Merzbacher Disease
Cerebral cortical atrophy, Optic atrophy, Short stature, Choreoathetosis, Gait disturbance, Ataxi... ORPHA:702
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Inability to walk, Gait disturbance, Attention deficit hyperactivity di... ORPHA:216866
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Ataxia, Abnormality of visual evoked potentials, Neuronal loss in central nervous ... OMIM:256600
Developmental And Epileptic Encephalopathy 44
Athetosis, Spasticity, Generalized hypotonia, Dystonia OMIM:617132
Pontocerebellar Hypoplasia, Type 14
Dystonia, Hypotonia, Spastic tetraplegia, Hypertonia OMIM:619301
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Resting tremor, Rigidity, Postural tremor, Freezing of gait, Dystonia OMIM:619911
Spastic Ataxia 3, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Ataxia, Dysmetria, Loss of ambulation, Dystonia OMIM:611390
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Leukoencephalopathy, Progressive, With Ovarian Failure
Hand tremor, Spasticity, Dystonia, Ataxia OMIM:615889
Baker-Gordon Syndrome
Inability to walk, Choreoathetosis, Ataxia, Neonatal hypotonia, Dystonia OMIM:618218
Atypical Rett Syndrome
Gait ataxia, Spasticity, Limb myoclonus, Inability to walk, Stereotypical hand wringing, Apraxia,... ORPHA:3095
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Gait ataxia, Abnormality of pattern visual evoked potentials, EEG with generalized epileptiform d... ORPHA:1947
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Mild neurosensory hearing impairment, Optic atrophy, Decreased motor nerve conduction velocity, P... OMIM:601152
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spasticity, Spastic tetraplegia, Choreoathetosis, Generalized hypotonia, Dystonia OMIM:618238
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Spastic tetraplegia, Ataxia, Spastic paraplegia, Neonatal hypotonia, Unsteady gait, Dystonia OMIM:245349
Raynaud-Claes Syndrome
Generalized hypotonia, Hypotonia, Lower limb spasticity, Progressive cerebellar ataxia, Dystonia OMIM:300114
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Macrotia, Cerebral cortical atrophy, Birth length less than 3rd percentile, Stereo... OMIM:614104
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Spasticity, Inability to walk, Rigidity, Ataxia, Dysphagia, Dystonia OMIM:617672
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, EEG with generalized slow activity grade 4, EEG with series of focal spikes, Inabi... ORPHA:168491
Acrocraniofacial Dysostosis
Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... OMIM:201050
Developmental And Epileptic Encephalopathy 109
Gait ataxia, Spasticity, Hyperactivity, Crouch gait, Hypotonia, Axial hypotonia OMIM:620145
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Leg dystonia OMIM:606324
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Sensorineural hearing impairment, Short stature, Ataxia, Decreased nerve conduction velocity, Abn... ORPHA:1933
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia OMIM:250850
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Recurrent hand flapping, Macrotia, Cerebral atrophy, EEG abnormality OMIM:617268
Leukodystrophy, Hypomyelinating, 18
Spasticity, Spastic tetraplegia, Progressive spasticity, Dysmetria, Dystonia OMIM:618404
Foxg1 Syndrome
Spasticity, Inability to walk, Stereotypical hand wringing, Myoclonus, Choreoathetosis, Abnormal ... ORPHA:561854
Corticobasal Syndrome
Akinesia, Limb dystonia, Gait disturbance, Tremor, Dystonia, Progressive extrapyramidal muscular ... ORPHA:454887
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Shuffling gait, Rigidity, Hand tremor, Gait disturbance, Spastic paraparesis, Dysphag... ORPHA:289560
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Limb hypertonia, Resting tremor, Choreoathetosis, Hypotonia, Axial hypotonia, Dystonia OMIM:606703
Peroxisomal Acyl-Coa Oxidase Deficiency
Hypotonia, Neonatal hypotonia, Hypertonia, Dysphagia, Dystonia OMIM:264470
Classic Progressive Supranuclear Palsy Syndrome
Neuromuscular dysphagia, Blepharospasm, Gait imbalance, Falls, Akinesia, Impulsivity, Axial dysto... ORPHA:240071
Ataxia-Telangiectasia-Like Disorder 1
Gait ataxia, Dysdiadochokinesis, Choreoathetosis, Ataxia, Dysmetria, Hypotonia, Lower limb spasti... OMIM:604391
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Postural tremor, Ataxia, Dysmetria, Tremor, Loss of ambulation, Dysphagia, Dystonia OMIM:607694
Pontocerebellar Hypoplasia, Type 15
Dystonia, Hypotonia, Spastic tetraplegia, Hypertonia OMIM:619302
Congenital Disorder Of Glycosylation, Type Ia
Macrotia, Steatorrhea, Ataxia, Hypocholesterolemia, Dysmetria, Tremor, Cerebellar atrophy, Intent... OMIM:212065
Dopa-Responsive Dystonia
Inability to walk, Rigidity, Oculogyric crisis, Gait disturbance, Leg dystonia, Tremor, Difficult... ORPHA:255
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Macrotia, Gait disturbance, Abnormal repetitive mannerisms ORPHA:457240
Huntington Disease-Like 3
Chorea, Cerebral cortical atrophy, Abnormal head movements, Progressive gait ataxia, Caudate atro... ORPHA:157946
Kufor-Rakeb Syndrome
Spasticity, Akinesia, Rigidity, Torticollis, Gait disturbance, Ataxia, Spastic paraplegia, Tremor... OMIM:606693
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Low-set ears, Recurrent hand flapping OMIM:620021
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Focal dystonia, Tremor, Dysphagia, Jerky head movements ORPHA:240103
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Hypotonia, Dystonia, Ataxia OMIM:620094
Lamb-Shaffer Syndrome
Hyperactivity, Optic atrophy, Mild postnatal growth retardation, Abnormal repetitive mannerisms, ... ORPHA:530983
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Choreoathetosis, Ataxia, Hypertonia, Dystonia ORPHA:71277
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Sensorineural hearing impairment, Brain atrophy, Short stature, Protruding ear, Tr... OMIM:618342
Gaucher Disease Type 2
Spasticity, Dystonia, Dysphagia ORPHA:77260
Leukodystrophy, Hypomyelinating, 2
Progressive spasticity, Rigidity, Choreoathetosis, Ataxia, Spastic paraparesis, Head titubation, ... OMIM:608804
Microtriplication 11Q24.1
Posteriorly rotated ears, Hyperlipidemia, Attached earlobe, Hearing impairment, Bruxism ORPHA:289522
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Spasticity, Inability to walk, Loss of ability to walk in early childhood, Generalized hypotonia,... OMIM:612073
Peroxisomal Acyl-Coa Oxidase Deficiency
Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Gait disturbance, Low-set ears,... ORPHA:2971
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Ataxia, Dysmetria, Tremor, Dysphagia, Unsteady gait, Dystonia ORPHA:79263
Neurodevelopmental Disorder With Involuntary Movements
Spasticity, Generalized hypotonia, Dysphagia, Athetosis, Dystonia OMIM:617493
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Spasticity, Blepharospasm, Rigidity, Gait disturbance, Ataxia, Loss of ambulation, Hypotonia, Cra... OMIM:617282
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... OMIM:609136
3-Methylglutaconic Aciduria, Type I
Spasticity, Spastic tetraplegia, Ataxia, Athetosis, Dystonia OMIM:250950
Sulfite Oxidase Deficiency, Isolated
Choreoathetosis, Generalized hypotonia, Agitation, Ataxia, Axial hypotonia, Hypertonia, Generaliz... OMIM:272300
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Spasticity, Dystonia, Dysphagia OMIM:607236
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Progressive spasticity, Generalized hypotonia, Ataxia, Head titubation, Difficulty walking, Dystonia ORPHA:527497
Pelizaeus-Merzbacher Disease
Inability to walk, Writer's cramp, Choreoathetosis, Ataxia, Progressive spastic quadriplegia, Spa... OMIM:312080
Spinocerebellar Ataxia Type 8
Gait ataxia, Spasticity, Rigidity, Spastic dysarthria, Limb ataxia, Ataxia, Dysphagia, Unsteady g... ORPHA:98760
4Q21 Microdeletion Syndrome
Low-set ears, Tremor, Hearing impairment, Abnormal repetitive mannerisms ORPHA:238750
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... ORPHA:50815
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypocholesterolemia, Impaired vibratory sen... OMIM:246700
Leukodystrophy, Hypomyelinating, 15
Spasticity, Ataxia, Loss of ambulation, Dysphagia, Athetosis, Dystonia, Intention tremor OMIM:617951
Combined Oxidative Phosphorylation Deficiency 13
Axial hypotonia, Choreoathetosis, Dystonia, Severe muscular hypotonia OMIM:614932
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Tremor, Action tremor, Hypertonia, Dysphagia, Dystonia OMIM:619738
New-Onset Refractory Status Epilepticus
EEG with frontal epileptiform discharges, Global brain atrophy, EEG with generalized epileptiform... ORPHA:363558
Juvenile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Parkinsonism, Myoclonic spasms, Clumsiness, Interictal EEG abnormal... ORPHA:79264
Xq12-Q13.3 Duplication Syndrome
Cleft earlobe, Short stature, Bulimia, Hypsarrhythmia, Agitation, Impaired pain sensation, Anteri... ORPHA:314389
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Cerebellar vermis atrophy, Truncal ataxia, Recurrent hand flapping, Limb ataxia, Broad-based gait... OMIM:617101
Developmental And Epileptic Encephalopathy 1
Choreoathetosis, Spastic tetraparesis, Axial hypotonia, Hypertonia, Dysphagia, Dystonia OMIM:308350
Canavan Disease
Abnormality of visual evoked potentials, Hearing impairment, Optic atrophy, EEG abnormality ORPHA:141
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebe... ORPHA:247815
Infantile Neuroaxonal Dystrophy
Hyperactivity, Abnormality of peripheral nerve conduction, Optic atrophy, Abnormal autonomic nerv... ORPHA:35069
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Inability to walk, Ataxia, Impulsivity, Hypotonia, Attention deficit hyperactivity di... OMIM:617854
2,4-Dienoyl-Coa Reductase Deficiency
Hypotonia, Spasticity, Choreoathetosis, Dystonia OMIM:616034
Leukodystrophy, Hypomyelinating, 21
Athetosis, Dystonia, Ataxia OMIM:619310
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Truncal ataxia, Ataxia, Dysmetria, Hypotonia, Head titubation, Dystonia OMIM:250620
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Abnormality of central somatosensory evoked potentials, Dysdiadochokinesis,... OMIM:277460
Branchiootorenal Syndrome 1
Conductive hearing impairment, Sensorineural hearing impairment, Incomplete partition of the coch... OMIM:113650
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Gait disturbance, Ataxia, Dysmetria, Tremor, Hypertonia, Dystonia ORPHA:96
Huntington Disease
Gait imbalance, Inability to walk, Rigidity, Choking episodes, Gait disturbance, Agitation, Polyp... ORPHA:399
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Attention deficit hyperactivity disorder, Cogwheel rigidity, Dystonia, In... OMIM:619725
4H Leukodystrophy
Dysdiadochokinesis, Progressive gait ataxia, Ataxia, Dysmetria, Tremor, Dysphagia, Dystonia ORPHA:289494
Mitochondrial Complex I Deficiency, Nuclear Type 26
Choreoathetosis, Dystonia, Limb hypertonia, Dysphagia OMIM:618247
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Gait ataxia, Opisthotonus, Inability to walk, Rigidity, Truncal titubation, Cogwheel rigidity, Ac... OMIM:607483
Mohr-Tranebjaerg Syndrome
Spasticity, Tremor, Dystonia, Dysphagia OMIM:304700
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, EEG abnormality, Ataxia, Abnormal repetitive mannerisms, Hyperc... ORPHA:2479
Progressive Supranuclear Palsy
Blepharospasm, Falls, Rigidity, Impulsivity, Tremor, Dysphagia, Unsteady gait, Dystonia ORPHA:683
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Progressive spastic paraplegia, Spasticity, Ataxia, Difficulty walking, Axial hypotonia, Lower li... ORPHA:464282
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Choreoathetosis, Dystonia, Generalized hypotonia, Ataxia OMIM:618416
Leukodystrophy, Hypomyelinating, 20
Torticollis, Dystonia, Spastic tetraplegia, Hypertonia OMIM:619071
Infantile Dystonia-Parkinsonism
Limb hypertonia, Oculogyric crisis, Axial hypotonia, Hypertonia, Dystonia ORPHA:238455
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Cerebral cortical atrophy, Brain atrophy, Optic atrophy, Intrauterine growth retar... ORPHA:369939
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gait ataxia, Spasticity, Inability to walk, Rigidity, Truncal ataxia, Choreoathetosis, Hypotonia,... OMIM:618877
Alzheimer Disease 3
Spastic tetraparesis, Gait disturbance, Dystonia, Dysphagia OMIM:607822
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Gait disturbance, Ataxia, Tremor, Dystonia ORPHA:542310
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Limb hypertonia, Rigidity, Oculogyric crisis, Tremor, Axial hypotonia, Dystonia ORPHA:70594
Progressive Myoclonic Epilepsy With Dystonia
Dystonia, Generalized neonatal hypotonia ORPHA:352596
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Spasticity, EEG abnormality, Limb hypertonia, Recurrent hand flapping, Low-set ears, Unsteady gait OMIM:618480
Baralle-Macken Syndrome
Spasticity, Dystonia, Neonatal hypotonia, Inability to walk OMIM:619255
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Spastic gait, Spastic dysarthria, Progressive gait ataxia, Focal dystonia, Hypot... ORPHA:447757
Krabbe Disease
Optic atrophy, Abnormal flash visual evoked potentials, EEG abnormality, Diffuse cerebral atrophy... OMIM:245200