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Gene: Atp2b2 MGI:105368

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Gene Summary

Name:
ATPase, Ca++ transporting, plasma membrane 2
Synonyms:
wms,  Gena300,  PMCA2,  jog,  Tmy,  D6Abb2e

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.

Select physiological systems to view:
Viewing: all phenotypes
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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
Atp2b2Obv
head, HET, Female, WTSI
Atp2b2Obv
body, HET, Female, WTSI
Atp2b2Obv
forearm, HET, Male, WTSI
Atp2b2Obv
head, WT, Male, WTSI
Atp2b2Obv
body, WT, Male, WTSI

View all 108 images

Atp2b2Obv
back skin, HET, Female, WTSI
Atp2b2Obv
back skin, HET, Female, WTSI
Atp2b2Obv
back skin, HET, Female, WTSI
Atp2b2Obv
back skin, HET, Female, WTSI
Atp2b2Obv
tail skin, WT, Female, WTSI
Atp2b2Obv
tail skin, WT, Female, WTSI
Atp2b2Obv
eye, abnormal retinal pigmentation, HET, Female, WTSI

Human diseases caused by Atp2b2 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 Atp2b2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 12
Abnormal vestibular function, Prelingual sensorineural hearing impairment OMIM:601386
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804

The table below shows human diseases predicted to be associated to Atp2b2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment OMIM:613391
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Dominant 65
Abnormal vestibular function, Progressive hearing impairment OMIM:616044
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Facial Paresis, Hereditary Congenital, 2
Facial palsy, Hearing impairment OMIM:604185
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses, Positive Romber... OMIM:616515
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Usher Syndrome, Type Id
Abnormal vestibular function, Hearing impairment OMIM:601067
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Dominant 9
Vertigo, Postlingual sensorineural hearing impairment, Abnormality of the vestibulocochlear nerve... OMIM:601369
Ataxia-Deafness-Retardation Syndrome
Progressive sensorineural hearing impairment, Ataxia OMIM:208850
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Keratoderma, Palmoplantar, With Deafness
Hearing impairment OMIM:148350
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration
Abnormal vestibular function, Hearing impairment OMIM:614934
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment, Ataxia OMIM:212850
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impairment ORPHA:217012
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Episodic Ataxia Type 5
Vertigo, Ataxia, Truncal ataxia ORPHA:211067
Fibromatosis, Gingival, 1
Hearing impairment OMIM:135300
Spinocerebellar Ataxia 37
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea, Involuntary movements OMIM:616939
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Babinski sign, Spastic paraplegia, Dysdiadochokinesis, Impaired... ORPHA:101007
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Autosomal Recessive Spastic Paraplegia Type 24
Clonus, Sensorineural hearing impairment, Spastic paraplegia, Scissor gait, Tip-toe gait, Spasticity ORPHA:101004
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:136600
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... OMIM:617018
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, EEG abnormality, Myoclonus, Difficulty walking, Dystonia, Lethargy, Sp... OMIM:617829
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, ... OMIM:606777
Cataract-Ataxia-Deafness-Retardation Syndrome
Adult onset sensorineural hearing impairment, Ataxia, Distal sensory impairment OMIM:212710
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... OMIM:619565
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration ORPHA:3233
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Impaired pain sensation, Sensorineural hearing impairment, Impaired distal vibration sensation, H... OMIM:300905
Cochleosaccular Degeneration With Progressive Cataracts
Hearing impairment OMIM:120040
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors OMIM:159900
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Ataxia, Abasia OMIM:209100
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... OMIM:601068
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:300425
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking ORPHA:85292
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Recessive 120
Sensorineural hearing impairment OMIM:620238
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Hearing impairment, Distal sensory impairment OMIM:614369
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... ORPHA:401901
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spinocerebellar atro... ORPHA:95433
Urocanase Deficiency
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia ORPHA:401840
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus, Hearing impairment OMIM:159800
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor OMIM:601238
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:607373
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a... ORPHA:94122
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Fal... ORPHA:363710
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Bilateral sensorineural hearin... ORPHA:2589
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, EEG abnormality, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible... OMIM:608636
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... OMIM:615625
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Ataxia OMIM:208750
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis OMIM:605388
Intellectual Developmental Disorder, Autosomal Recessive 77
Unsteady gait, Head tremor, Self-biting OMIM:619988
Spastic Paraparesis And Deafness
Tremor, Hearing impairment, Spastic paraparesis OMIM:312910
Spinocerebellar Ataxia Type 5
Cerebellar atrophy, Slurred speech, Gait disturbance, Incoordination ORPHA:98766
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen... OMIM:615127
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Tremor, Prelingual sensorineural hearing im... ORPHA:52368
Spinocerebellar Ataxia 31
Sensorineural hearing impairment, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Deafness, Autosomal Recessive 12
Abnormal vestibular function, Prelingual sensorineural hearing impairment OMIM:601386
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Optic atrophy, EEG abnormality, Hypertonia, Olivopontocerebellar atrophy, Hearing impairment ORPHA:2732
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function, Hearing i... OMIM:165300
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... ORPHA:101010
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Unsteady gait, Babinski sign, Clumsiness, Spastic dysarthria, Cereb... ORPHA:314978
Deafness-Oligodontia Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear ORPHA:3230
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, EEG abnormality, Hypertonia, Myoclonus, ... ORPHA:71277
Atypical Pantothenate Kinase-Associated Neurodegeneration
Violent behavior, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, O... ORPHA:216873
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy OMIM:615957
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Sandhoff Disease, Adult Form
Tremor, Dysphagia, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br... ORPHA:210571
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Spinocerebellar Ataxia Type 23
Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr... ORPHA:101108
Cataract-Ataxia-Deafness Syndrome
Ataxia, Tremor, Decreased nerve conduction velocity, Sensorineural hearing impairment, Hypertonia... ORPHA:1368
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... OMIM:617270
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Dystonia With Cerebellar Atrophy
Torticollis, Dystonia, Progressive cerebellar ataxia, Dysphagia, Craniofacial dystonia OMIM:611694
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Developmental And Epileptic Encephalopathy 40
Spastic tetraparesis, Hypsarrhythmia, Choreoathetosis, Myoclonus, Lethargy, Spasticity OMIM:617065
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Giant soma... OMIM:613608
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... ORPHA:382
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, Myoclonus OMIM:616187
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca... OMIM:615268
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia OMIM:611031
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... ORPHA:320401
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetri... OMIM:611302
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Abnormal nerve conduction velocity, He... ORPHA:101075
Parasomnia, Sleep Bruxism Type
Myoclonus, Bruxism OMIM:606840
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Torsion dyston... ORPHA:98811
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... OMIM:616291
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Abnormal repetitive mannerisms OMIM:239500
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Spastic Paraparesis-Deafness Syndrome
Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Sensorineural hearing impairment, Hypogo... ORPHA:2815
Migraine, Familial Hemiplegic, 1
Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia OMIM:141500
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Central Neurocytoma
Pain insensitivity, Ataxia, Babinski sign, Depression, Paresthesia, Lethargy, Tinnitus ORPHA:73256
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... OMIM:619742
Dystonia 23
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Usher Syndrome Type 1
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop... ORPHA:231169
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Chorea, Poor coordination, Bruxism, Falls, Inappropriate laughter, D... OMIM:619150
Brunner Syndrome
Self-injurious behavior, Kinetic tremor, Impulsivity, Aggressive behavior OMIM:300615
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Ataxia, Vertigo, Apathy ORPHA:71518
Ravine Syndrome
Ataxia, Anorexia, Abnormal auditory evoked potentials, Abnormal brainstem morphology, Atrophy/Deg... ORPHA:99852
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine... ORPHA:423275
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, Lethargy OMIM:618224
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Gait disturbance, Anorexia ORPHA:79283
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor OMIM:618876
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Impaired pain sensation, Tremor, Decreased nerve conduction velocity, Gait disturbance, H... ORPHA:101078
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Postural tremor, Oculogyric crisis, Parkinsonism, Rigidity, Babinsk... ORPHA:101150
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Chorea, Ataxia OMIM:618683
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Hearing impairment OMIM:620270
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagia, In... OMIM:302500
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Autosomal Spastic Paraplegia Type 72
Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles ORPHA:401849
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Somatic sensory dysfunction, Dysesthesia, Vertigo, Crani... ORPHA:268882
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Orthostatic hypotension, Restless legs, Rigidity, Depression, Bradykinesia, Gait ... OMIM:616710
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Depression, Bradykinesia, Dystonia OMIM:128235
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... ORPHA:276193
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Superficial Siderosis
Cerebellar atrophy, Ataxia, Impaired temperature sensation, Impaired pain sensation, Vertigo, Uns... ORPHA:247245
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Peripheral axonal neuropathy, Ataxia, Sensorineural hearing impairment, Abnormal pyramidal sign, ... OMIM:619196
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... OMIM:117360
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor OMIM:608029
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, ... OMIM:617145
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Paralysis, Difficulty walking, Distal sensory impairment OMIM:613710
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Macrotia, ... OMIM:616269
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia OMIM:617584
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia OMIM:619651
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Cer... OMIM:604213
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Sensorineural hearing impairment, Impaired vibration sensati... ORPHA:352675
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasti... OMIM:615924
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Steppage gait, Decreased compound muscle action potential amplitude, Dista... OMIM:613641
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Spastic t... ORPHA:599373
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia ORPHA:231183
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia OMIM:125370
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... OMIM:612716
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Atrophy/Degeneration affecting the brainstem, Hand tremor, ... OMIM:617862
Pendred Syndrome
Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th... ORPHA:705
Classic Galactosemia
Male infertility, Speech apraxia, Premature ovarian insufficiency, Postural tremor, Ataxia, Incoo... ORPHA:79239
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Apathy, Short steppe... ORPHA:306692
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... OMIM:128100
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... OMIM:213200
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Ataxia ORPHA:622
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Susac Syndrome
Somatic sensory dysfunction, Vertigo, Sensorineural hearing impairment, Gait ataxia, Apathy, Leth... ORPHA:838
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Dysphagia, Gait disturbance, Tong... ORPHA:276435
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga... OMIM:616127
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, D... ORPHA:401820
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Unsteady gait, Cochlear nerve hypoplasia, Abnormal speech ... OMIM:300614
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... OMIM:609425
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, Dystonia, Lethargy, Limb hy... OMIM:233910
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia, Hearing impairment ORPHA:1186
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:300495
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal a... OMIM:613728
Spinocerebellar Ataxia 50
Cerebellar atrophy, Ataxia, Postural tremor, Action tremor, Chorea, Myoclonus, Head tremor, Aprax... OMIM:620158
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... OMIM:610185
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Lower limb spasticity, Gait ataxia, Sensory ataxia, Dysphagia, Inte... OMIM:620221
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Facial palsy, Truncal titubation, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal si... OMIM:607483
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
N-Acetylaspartate Deficiency
Abnormal repetitive mannerisms, Self-mutilation, Truncal ataxia OMIM:614063
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n... ORPHA:99014
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Distal sensory i... OMIM:609260
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,... OMIM:618090
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... OMIM:619279
Early Myoclonic Encephalopathy
Hypsarrhythmia, EEG abnormality, Myoclonus, Dysphagia, Lethargy ORPHA:1935
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O... OMIM:619028
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... OMIM:604432
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Head titubation, Truncal ataxia, Dysmetria, Myoclonus, Dystonia, Lethargy OMIM:250620
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Dysphagia ORPHA:228169
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Sensorineural he... OMIM:617519
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Severe Canavan Disease
Oral-pharyngeal dysphagia, Inability to walk, Babinski sign, Optic atrophy, Decerebrate rigidity,... ORPHA:314911
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Myoclonus, Lethargy OMIM:605899
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Clonus, Decreased nerve conduction velocity, Poor coordination, Abn... OMIM:238970
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Depression, Gait di... ORPHA:98764
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... ORPHA:314632
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... OMIM:607876
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait OMIM:618387
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Restlessness, Ataxia, Inability to walk, Athetosis, Abnormality of extrapyramidal motor function,... OMIM:615159
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, An... ORPHA:521406
Cyclic Vomiting Syndrome
Ataxia, Anorexia, Attention deficit hyperactivity disorder, Lethargy, Hearing impairment OMIM:500007
Late-Infantile/Juvenile Krabbe Disease
Tremor, EEG with persistent abnormal rhythmic activity, Neuromuscular dysphagia, Loss of ambulati... ORPHA:206443
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Distal Deletion 10Q
Abnormal morphology of the vestibule of the inner ear, Ataxia, Clonus, Congenital sensorineural h... ORPHA:96148
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:617830
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... ORPHA:101109
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Hearing impairment, Aplasia/Hypoplasia of the cerebellar vermis, Hand trem... ORPHA:401830
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Diminished motivation, Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, ... OMIM:615157
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... OMIM:213600
Spinocerebellar Ataxia Type 11
Dystonia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Gait imbalance, Difficulty walk... ORPHA:98767
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati... OMIM:607565
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Apathy, Dystonia, Par... ORPHA:240085
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Dysp... OMIM:607346
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Torticollis, Hearing imp... OMIM:613724
Huntington Disease-Like 1
Restlessness, Incoordination, Aggressive behavior, Rigidity, Chorea, Unsteady gait, Dysmetria, De... OMIM:603218
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonism, Action tremor, Im... OMIM:300623
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Depression, Bradykinesia, Limb... ORPHA:71517
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Inability to walk, EEG abnormality, Self-injurious behavior, Dystonia, Spa... OMIM:617820
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Waddling gait, Ataxia, Sensorineural hearing impairment, Babinski sign, Distal sensory impairment... OMIM:617882
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, De... OMIM:302800
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Limb ataxia, Choreoathetosis, Gait disturbance, Falls, Myoclonus, Truncal ata... OMIM:616230
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Babinski sign, Impaired vibration sensation ... OMIM:614409
X-Linked Progressive Cerebellar Ataxia
Unsteady gait, Babinski sign, Limb ataxia, Dysmetria, Spastic dysarthria, Progressive cerebellar ... ORPHA:1175
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... ORPHA:397946
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb spasticity, Postural tremor, Impaired distal proprioception, Abnormal cerebellum morph... OMIM:270800
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski... OMIM:617225
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Ataxia, Inability to walk, Optic atrophy, Dysmetria, Dystonia, Spasticity, Fa... OMIM:617954
Developmental And Epileptic Encephalopathy 56
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, EEG abnormality, ... OMIM:617665
Episodic Ataxia Type 4
Abnormal head movements, Frequent falls, Incoordination, Ataxia ORPHA:79136
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Self-injurious behavior, Chorea, Stereotypical hand wringing, EEG abnormality OMIM:618760
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Optic atrophy... OMIM:619470
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Bilate... ORPHA:314603
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal mot... OMIM:615362
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Unsteady gait, Optic atrophy, Primary amenorrhea, Secondary amen... OMIM:603896
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Dystonia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, ... ORPHA:453521
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, ... OMIM:300423
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Schwannomatosis 1
Vestibular schwannoma, Peripheral schwannoma OMIM:162091
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Abnormal medulla obl... ORPHA:206448
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Broad-based gait, Bipolar affective disorder, Lower limb spasticity, Parkinsonism... ORPHA:3077
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Optic atrophy, Abnormal pyramidal sign, ... OMIM:605259
Basal Ganglia Calcification, Idiopathic, 5
Postural tremor, Parkinsonism, Vertigo, Chorea, Hand tremor, Depression, Athetosis, Apathy, Motor... OMIM:615483
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Torticollis, Ataxia, Small for gestational age, Babinski sign, Choreoat... OMIM:619054
Huntington Disease-Like 3
Abnormal head movements, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormal pyr... ORPHA:157946
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Spa... OMIM:300983
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Myoclonus, Attention deficit hyperactivity disorder, Difficulty walking OMIM:619191
Deafness, Autosomal Dominant 86
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus OMIM:620280
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... ORPHA:53583
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, ... OMIM:610357
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation OMIM:617916
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy, Tetraplegia, Hypertonia, Lethargy OMIM:274270
Methylmalonic Acidemia With Homocystinuria
Lethargy, Gait disturbance ORPHA:26
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia, Small for gestational age OMIM:278780
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Hypertonia, Hyperkinetic mo... OMIM:619738
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, EEG with spike-wave complexes OMIM:614018
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Broad-based gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar hypo... OMIM:224050
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Abnormal repetitive manne... ORPHA:275864
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Apathy, Gait ... OMIM:600795
Spinocerebellar Ataxia 27B, Late-Onset
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... OMIM:600363
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls, Tinnitus OMIM:617691
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Hemiparesis, Lethargy, EEG abnormality OMIM:617900
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... ORPHA:139485
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Optic atrophy, Athetosis, Decreased... OMIM:614559
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... ORPHA:248111
Atypical Rett Syndrome
Restrictive behavior, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, ... ORPHA:3095
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Lo... OMIM:256731
Monomelic Amyotrophy
Tremor, Fasciculations, Abnormality of peripheral nerve conduction ORPHA:65684
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... ORPHA:512260
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, EEG abnormality, Self-injurious behavior, Low-set ears,... OMIM:618718
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dysphagia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Cln5 Disease
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... ORPHA:228360
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Weight loss, Tip-toe gait, Gai... ORPHA:216866
Autosomal Recessive Spastic Paraplegia Type 46
Lower limb spasticity, Broad-based gait, Abnormal sperm morphology, Ataxia, Hearing impairment, B... ORPHA:320391
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus, Interictal epileptiform activity OMIM:615400
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, High-frequency sensorineural hearing impairment, Tremor, Inability to walk, Sensor... ORPHA:2590
Spinocerebellar Ataxia, Autosomal Recessive 32
Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... OMIM:619862
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... OMIM:615528
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... OMIM:616719
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia OMIM:617836
Spinocerebellar Ataxia Type 36
Ataxia, Vertigo, Babinski sign, Limb myoclonus, Limb ataxia, Dysmetria, Hand tremor, Dysphagia, I... ORPHA:276198
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, EEG abnormality, Self-injuriou... OMIM:618218
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401835
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy, Ataxia ORPHA:85297
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Dysphagia, Bradykinesia, Ankle clonus, H... OMIM:617435
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... ORPHA:208513
Mast Syndrome
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokine... OMIM:248900
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Prolonged somatosensory evoked potentials, Hand tremor, Myoc... OMIM:608105
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... OMIM:608768
Ataxia-Deafness-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the cerebellum, Sensorineural hearing impairment, Decreased nerve conductio... ORPHA:1188
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:352403
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Impair... OMIM:605361
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Tremor, Sensorineural hearing impairment, Distal senso... OMIM:118300
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebellar atrophy, Sensorineural hearing impairment, Optic atrophy, Abnormal pyramidal sign, Tet... OMIM:300475
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, D... OMIM:618317
Benign Adult Familial Myoclonic Epilepsy
EEG abnormality, Myoclonus, Hand tremor ORPHA:86814
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Gait ataxia, Titubation, Head tremor ORPHA:98771
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Dysphagia, Choreoa... OMIM:606159
Dystonia 9
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia OMIM:601042
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Dysphagia OMIM:618637
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:616341
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... ORPHA:240094
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired distal proprioception, Tremor, Impaired vibration sensation in the lower limbs, Hyperton... ORPHA:137898
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O... ORPHA:101085
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Lethargy, EEG abnormality OMIM:613002
Episodic Ataxia Type 3
Episodic ataxia, Vertigo, Hemiplegia, Tinnitus ORPHA:79135
Spinocerebellar Ataxia 5
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... OMIM:600224
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Hypertonia, Myoclonus... OMIM:619092
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Vestibular areflexia, Babinski sign, Optic atrophy, Dysmetria, ... ORPHA:504476
Hsd10 Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Dysphagia, Choreoathetosis, Gait disturbance, Myoclonus,... ORPHA:391417
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea, Limb ataxia, Dysme... OMIM:607136
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi... OMIM:618587
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Gait ataxia, Self-injurious beha... OMIM:618917
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Dys... OMIM:618088
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Exaggerated startle respon... OMIM:616881
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Optic atrophy... OMIM:311070
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,... ORPHA:1170
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubation, Bradykinesia, Gait ... ORPHA:225147
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Writer's cramp, Involuntary movements, Rig... ORPHA:98759
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased sensory nerve c... ORPHA:206594
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Cerebellar atrophy, Limb dystonia, Torticollis, Head titubation, Abnormal pyramidal sign, Limb at... OMIM:617560
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz) OMIM:616366
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Inability to walk... ORPHA:101077
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia... ORPHA:1215
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Failure to thrive, Ataxia OMIM:618951
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,... ORPHA:90117
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... OMIM:616204
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Ataxia, Dystonia OMIM:246900
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Apraxia, Restlessness, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic parap... OMIM:300055
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Gait disturbance, Pr... OMIM:210000
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr... OMIM:617810
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Decreased body weight, Ataxia, Inability to walk, Poor coordination, Limb ataxi... OMIM:617695
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... ORPHA:765
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign OMIM:617770
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... OMIM:617633
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Spasticity, Dystonia OMIM:304700
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... OMIM:612736
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Inability to walk, Cerebral atrophy, Choreoathetosis, Hyperkinetic movements, Myoclonus... OMIM:618497
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Spinocerebellar Ataxia Type 2
Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella... ORPHA:98756
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred s... ORPHA:93952
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Interictal EEG abnormality, Ataxia, Increased neuronal autofluorescent lipopi... ORPHA:79263
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Dysphagia, Opisthotonus, Chore... ORPHA:13
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Spinocerebellar Ataxia Type 10
Lower limb spasticity, Kinetic tremor, Aggressive behavior, Unsteady gait, Babinski sign, Dysmetr... ORPHA:98761
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment ORPHA:66633
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Sensorineural hearing impairment, Unsteady gait, Elevated cir... OMIM:614867
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, EEG abnormality, Ataxia, Gait ataxia OMIM:617831
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural... OMIM:619260
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebral corti... ORPHA:33445
Peroxisome Biogenesis Disorder 8B
Cerebellar atrophy, Lower limb spasticity, Failure to thrive, Ataxia, Clonus, Dysesthesia, Rigidi... OMIM:614877
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Sensorineural hearing impairm... ORPHA:79097
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Lethargy OMIM:312170
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment... OMIM:612674
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... ORPHA:247815
Huntington Disease-Like 2
Rigidity, Chorea, Depression, Bradykinesia, Apathy, Dystonia, Inertia, Action tremor OMIM:606438
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Tinnitus, Progressive hearing impairment OMIM:193005
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Dystonia, Ataxia, Incoordination, Sensorineural hearing impairment, Optic atrophy, Dysmetria, Gai... OMIM:601338
Spinocerebellar Ataxia 49
Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Abnormal... OMIM:619806
Intellectual Developmental Disorder, Autosomal Recessive 73
Posteriorly rotated ears, Impulsivity, Gait ataxia, Low-set ears, Recurrent hand flapping OMIM:619717
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Hypertonia, Optic atrophy, Dystonia ORPHA:26792
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia ORPHA:306669
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... OMIM:606693
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Impaired vibratory sensation, Cerebe... ORPHA:98
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Spasticity, Ataxia, Myoclonus OMIM:618225
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, Dystonia, Lethargy ORPHA:289916
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Christianson Syndrome
Cerebellar atrophy, Dystonia, Cachexia, Truncal ataxia, Gait ataxia, Inappropriate laughter, Neur... ORPHA:85278
Spinocerebellar Ataxia With Epilepsy
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Dysdiad... ORPHA:254881
Mitochondrial Complex I Deficiency, Nuclear Type 5
Ataxia, Babinski sign, Optic atrophy, Dysphagia, Dystonia, Lethargy OMIM:618226
Leukodystrophy, Hypomyelinating, 15
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Optic atrophy, Abnormal pyramidal s... OMIM:617951
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Abnormal pinna morphology, Ataxia, Small for gestational age, Fail... OMIM:614104
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency, Ataxia, Babinski sign, Hand tremor, Depression, Dystonia, Spasti... OMIM:615889
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Tinnitus OMIM:608224
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Branchiootorenal Syndrome 1
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... OMIM:113650
Spinocerebellar Ataxia 4
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... OMIM:600223
Episodic Ataxia, Type 5
Ataxia, Vertigo, EEG with generalized spikes, Myoclonus, Truncal ataxia, Episodic ataxia, EEG wit... OMIM:613855
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia,... OMIM:245348
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia ... OMIM:617523
Developmental And Epileptic Encephalopathy 41
Inability to walk, Babinski sign, Hypsarrhythmia, EEG abnormality, Tetraparesis, Lethargy, Spasti... OMIM:617105
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Tongue thrusting, Li... OMIM:608643
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Ataxia, Elevated circulating creatine kinase concentration, Hypoplasia of the pons, Inability to ... OMIM:615350
Foxg1 Syndrome
Pachygyria, Inability to walk, Bruxism, Choreoathetosis, Hyperkinetic movements, Myoclonus, Diffi... ORPHA:561854
Spinocerebellar Ataxia 6
Incoordination, Ataxia, Vertigo, Slurred speech, Dysmetria, Dysphagia, Progressive cerebellar ata... OMIM:183086
Spinocerebellar Ataxia Type 1
Postural tremor, Dysphagia, Chorea, Impaired proprioception, Slurred speech, Dysmetria, Abnormal ... ORPHA:98755
Spinocerebellar Ataxia 28
Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a... OMIM:610246
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... OMIM:603472
Jeavons Syndrome
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... ORPHA:139431
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Sensorineural hearing impairment, Axonal loss, Difficulty walking, Dystonia, Peripheral d... OMIM:616684
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Athetosis, Recurrent hand flapping, Hypsarrhythmia OMIM:618141
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Dystonia, Oculogyric crisis, Inability to walk, Chorea, Cerebral atrophy, Sel... OMIM:614254
Manganese Poisoning
Decreased female libido, Postural tremor, Akinesia, Aggressive behavior, Hypersexuality, Depressi... ORPHA:306682
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Sensorineural hearing impairment, Optic atrophy, Paresthesia, Lethargy ORPHA:49827
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Recurrent hand flapping, Posteriorly rotated ears, Low-set ears OMIM:618147
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Ataxia, Tremor, Depression, Hemiparesis, Spasticity, Intention tr... OMIM:614307
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia OMIM:616042
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic disc pallor, Ataxia, Optic atrophy, Abnormal pyramidal sign, Lethargy OMIM:618228
Spinocerebellar Ataxia 2
Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Ataxia, Parkinsonism,... OMIM:183090
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Cerebellar atrophy, Broad-based gait, Ataxia, Elevated circulating creatine kinase concentration,... OMIM:618098
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Facial palsy, Action tremor, Optic atrophy, Distal sensory impairment, Depression, Bradyk... ORPHA:254886
Isolated Atp Synthase Deficiency
Ataxia, Sensorineural hearing impairment, Spastic paraplegia, Optic atrophy, Tetraplegia, Hypogon... ORPHA:254913
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Citrullinemia Type I
Torticollis, Ataxia, Slurred speech, Ankle clonus, Lethargy, Spasticity ORPHA:247525
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh... OMIM:137440
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Inability to walk, Head t... OMIM:312080
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... ORPHA:251347
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:608049
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis, Lethargy ORPHA:27
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,... OMIM:615491
Perrault Syndrome 1
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Spastic diplegia, Gait ataxia, Inte... OMIM:233400
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Cerebellar atrophy, Overweight, Babinski sign, Spastic dysarthria, Difficulty walk... ORPHA:280763
Cdkl5-Deficiency Disorder
Impaired pain sensation, Multifocal epileptiform discharges, Inappropriate laughter, Bruxism, Ste... ORPHA:505652
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy OMIM:614229
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Chorea, Optic atrophy, Difficulty walking, Dystoni... ORPHA:401768
Peroxisome Biogenesis Disorder 6B
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Sensorineural hearing impairment, Impai... OMIM:614871
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Optic atrophy, Choreoathetosis, Dystonia, Lethargy ORPHA:79312
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Aggressive behavior, Tremor, Progressive hearing impairm... ORPHA:97229
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Optic atrophy, Bruxism, Dysphagia, Choreoathetosis, Bilateral sensorineural heari... OMIM:619422
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walking, Dystonia, Delaye... ORPHA:330050
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... OMIM:618877
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Upper limb postural tremor, Distal sensory impairment,... OMIM:180800
Spinocerebellar Ataxia Type 6
Incoordination, Babinski sign, Unsteady gait, Dysphagia, Gait ataxia, Blepharospasm, Progressive ... ORPHA:98758
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Optic atrophy, Abnormal repetitive mannerisms OMIM:619690
Familial Paroxysmal Ataxia
Torticollis, Ataxia, Vertigo, Dystonia, Hemiplegia, Tinnitus, Cerebellar vermis atrophy ORPHA:97
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation,... OMIM:611390
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Progressive spasti... ORPHA:280234
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnor... ORPHA:329284
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Dystonic gait, Abno... ORPHA:280219
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Tinnitus, Bilateral sensorineural hearing impairment, High-frequency hearing impairment OMIM:605594
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Cerebellar atrophy, Inability to walk, Sensorineural hearing impairment, Optic atrophy, Hyperammo... OMIM:614739
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Lethargy, Agitation ORPHA:276608
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Sensorineural hearing impairm... OMIM:617854
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy, Hypertonia, Gait disturbance, Hyperkinetic movements OMIM:236270
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Ataxia, Head titubation, Babinski sign, Dysmetria, Intention tremor OMIM:618688
Spinocerebellar Ataxia 34
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... OMIM:133190
Spinocerebellar Ataxia 21
Ataxia, Postural tremor, Akinesia, Parkinsonism, Aggressive behavior, Impulsivity, Limb ataxia, G... OMIM:607454
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Ataxia, Aggressive behavior, Chorea, Spastic tetraplegia, Gait ataxia, Hyps... OMIM:618321
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculom... OMIM:208920
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Low-set ears, Difficulty walking ORPHA:477673
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus OMIM:612016
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... OMIM:612438
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Impaired ... OMIM:162400
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Developmental And Epileptic Encephalopathy 6B
Ataxia, Chorea, Multifocal epileptiform discharges, EEG with spike-wave complexes (>3.5 Hz), Chor... OMIM:619317
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Depression, Bradykinesia, Inappropriate behavior, Apath... OMIM:168605
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... OMIM:604391
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Babinski sign, Dysmetria, Axonal lo... OMIM:618170
Gorham-Stout Disease
Chiari type I malformation, Torticollis, Abnormality of the internal auditory canal, Hearing impa... ORPHA:73
Spinocerebellar Ataxia 10
Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Dysp... OMIM:603516
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Macrotia, Stereotypical hand wringing ORPHA:397933
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag... OMIM:609136
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairment, Protruding ear, Low... OMIM:618342
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, EEG abnormality, Dystonia OMIM:612126
Xq28 (MECP2) duplication
Failure to thrive, Inability to walk, Gait ataxia, Progressive spasticity, Dysphagia, Macrotia, A... DECIPHER:45
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor... OMIM:300957
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Ataxia, Hypogonadotropic hypogonadism, Tremor, Babinski sign, Optic atrophy, Dys... OMIM:607694
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Abnormal eating behavior, Anteverted ears, Tremor, Poor coordination, Obsessive-compulsiv... ORPHA:544254
Spinocerebellar Ataxia, Autosomal Recessive 28
Cerebellar vermis hypoplasia, Truncal titubation, Abnormal pyramidal sign, Gait ataxia, Poor fine... OMIM:618800
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Decreased motor nerve conduction velocity, Elevated hemoglobin A1c, Sensorine... OMIM:616192
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... ORPHA:370022
Crouzon Syndrome
Optic atrophy, Chiari malformation, Cerebellar hypoplasia, Conductive hearing impairment, Narrow ... ORPHA:207
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Lower limb spasticity, Sensorineural hearing impairment, Babinski sign, Impaired vibration sensat... ORPHA:352641
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Dysphagia, Choreoathetosis, Bradykinesia, Hypertonia, Dys... OMIM:261640
Piebald Trait With Neurologic Defects
Ataxia, Hearing impairment OMIM:172850
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Medulloblastoma
Ataxia, Vertigo, Dysmetria, Abnormal cranial nerve morphology, Progressive cerebellar ataxia, Bil... ORPHA:616
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... ORPHA:3240
Typhoid
Tremor, Lethargy, Hypertonia, Ataxia ORPHA:99745
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Abnormality of the outer ear, Self hugging, Head-banging,... OMIM:182290
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... OMIM:618598
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, EEG ... ORPHA:282166
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, S... OMIM:614487
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Impaired proprioception, Hand tremor, Head tremor, Gait disturbance, Oligomenorrhea, Truncal atax... ORPHA:412057
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia, Obsessive-compulsive ... ORPHA:36387
Crigler-Najjar Syndrome
Lethargy, Vertigo, Hearing impairment ORPHA:205
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Depression, Bradykinesia, Abnormal aut... OMIM:168600
X-Linked Intellectual Disability, Najm Type
Failure to thrive, Optic nerve hypoplasia, Rigidity, Sensorineural hearing impairment, Optic atro... ORPHA:163937
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Tremor, Dysphagia, Tongue fasciculations, Difficulty walking, Myoclonus, Frequent f... OMIM:159950
Friedreich Ataxia
Decreased motor nerve conduction velocity, Inability to walk, Chorea, Babinski sign, Impaired pro... ORPHA:95
Ogden Syndrome
Abnormal head movements, Torticollis, Cryptorchidism, Hypertonia, Shuffling gait, Low-set ears, L... ORPHA:276432
Gaba-Transaminase Deficiency
Lethargy, EEG with burst suppression OMIM:613163
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... ORPHA:98772
4H Leukodystrophy
Ataxia, Hypogonadotropic hypogonadism, Tremor, Optic atrophy, Dysmetria, Dysphagia, Dysdiadochoki... ORPHA:289494
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr... ORPHA:247234
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Ataxia, Spastic tetraparesis, Babinski sign, Gait disturbance, Loss of ambulat... OMIM:615838
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Generalized dystonia, Ataxia, Postural tremor, Parkinsonism, Rigidity, Babinski sign... ORPHA:98808
Febrile Infection-Related Epilepsy Syndrome
Lethargy, EEG abnormality ORPHA:163703
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Abnormal autonomic n... OMIM:300894
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... OMIM:614575
Parkinson Disease 14, Autosomal Recessive
Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Aggress... OMIM:612953
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Spinocerebellar Ataxia 27A
Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Depression, Abnormal ves... OMIM:193003
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-in... OMIM:600430
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Lethargy, Amenorrhea OMIM:602390
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Facial palsy, Parkinsonism, Impaired distal proprioception, Rigidity, Elevate... OMIM:258450
Oculopharyngodistal Myopathy 3
Ataxia, Tremor, Sensorineural hearing impairment, Dysphagia, Conductive hearing impairment OMIM:619473
Joubert Syndrome 23
Dysplastic corpus callosum, Sensorineural hearing impairment, Cerebellar dysplasia OMIM:616490
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal sensory impairment, Dysphagia OMIM:607734
Developmental And Epileptic Encephalopathy 42
Ataxia, Tremor, Athetosis, EEG abnormality, Hypertonia OMIM:617106
Idiopathic Intracranial Hypertension
Papilledema, Pulsatile tinnitus, Vertigo, Depression, Lethargy ORPHA:238624
Spinocerebellar Ataxia Type 13
Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic atrophy, Limb ataxia, ... ORPHA:98768
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea... ORPHA:442835
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Spasticity, Intention tremor OMIM:215470
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Self-mutilation, Depression, Hyperkinetic movements, Gait disturbance, Upper limb spastic... ORPHA:457240
Crigler-Najjar Syndrome Type 1
Tremor, Hearing impairment ORPHA:79234
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Abnormal pyramidal sign, Neuromuscul... ORPHA:240071
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Primary ame... OMIM:617675
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Clasp-knife sign, Optic neuropathy,... ORPHA:101076
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Chorea, Low-set ears, Bruxism, Continuous spike and waves during slow sleep, ... OMIM:620149
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Paraplegia, Agitation, Lethargy, Abnormal repetitive mannerisms ORPHA:927
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Agenesis of corpus callosum, Abnormal auditory evoked potentials OMIM:109120
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi... OMIM:617013
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cerebral atrophy, Difficulty walking, Spasticity, Failure to thrive, Abnormal repetitive mannerisms OMIM:617393
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Dysphagia, Bradykinesia, Gait ... ORPHA:289560
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms OMIM:612069
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Rigidity, Spasticity, Depression, Bradykinesia, Male sexual d... ORPHA:2828
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Abnormal cranial nerve morphology, Aplasia/Hypoplasia of the c... ORPHA:990
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, G... OMIM:615530
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... OMIM:618060
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Optic neuropathy, Akinesia, Optic a... OMIM:618249
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity, Dense calcificat... ORPHA:542310
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia OMIM:619724
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Di... OMIM:616505
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Dilated vestibule of the inn... OMIM:611584
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Cerebellar hy... ORPHA:529665
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations, Dysphagia OMIM:313200
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity diso... OMIM:610042
Apert Syndrome
Sensorineural hearing impairment, Abnormal semicircular canal morphology, Optic atrophy, Chiari m... ORPHA:87
Madras Motor Neuron Disease
Facial palsy, Abnormal cerebellum morphology, Sensorineural hearing impairment, Babinski sign, Op... ORPHA:137867
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Failure to thrive OMIM:619556
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... ORPHA:459056
Dihydropyrimidinase Deficiency
Lethargy, Abnormal pyramidal sign, Extrapyramidal dyskinesia OMIM:222748
Spinocerebellar Ataxia Type 42
Resting tremor, Upper limb postural tremor, Vertigo, Unsteady gait, Babinski sign, Gait ataxia, D... ORPHA:458803
Autosomal Recessive Spastic Paraplegia Type 5A
Impaired vibratory sensation, Lower limb spasticity, Abnormal cerebellum morphology, Sensorineura... ORPHA:100986
Dentici-Novelli Neurodevelopmental Syndrome
Macrotia, Abnormal repetitive mannerisms, Hypsarrhythmia, Hearing impairment OMIM:619877
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Dystonia, Inability to walk, Chorea, Hemiparesis, Self-injurious behavior, B... OMIM:618004
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting... OMIM:619580
Insulinoma
Tremor, Hearing abnormality, Paresthesia, Abnormality of pain sensation, Lethargy, Polyphagia ORPHA:97279
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Rigidity, Unste... ORPHA:98760
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Lethargy, Spasticity OMIM:614299
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Obesity, Tetra... OMIM:616267
Xq21 Microdeletion Syndrome
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op... ORPHA:1435
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Cachexia, Decreased nerve ... ORPHA:206436
7Q31 Microdeletion Syndrome
Speech apraxia, Torticollis, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low... ORPHA:251061
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Oromandibular dys... OMIM:614298
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Abnormal cerebellar peduncle morphology, Ataxia, Pa... ORPHA:909
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Cerebral palsy, Small for gestational age, Repetitive compulsive behavior, Hyperto... ORPHA:352490
Primary Progressive Freezing Gait
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbalance, Sh... ORPHA:75567
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand flapping, Macrotia OMIM:300624
Pyruvate Dehydrogenase E3 Deficiency
Lethargy, Spasticity, Ataxia ORPHA:2394
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Optic atrophy, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, ... OMIM:617807
Benign Samaritan Congenital Myopathy
Lethargy, Fasciculations ORPHA:324581
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Pontocerebellar Hypoplasia, Type 6
Appendicular spasticity, Lower limb spasticity, Upper limb spasticity, Lethargy, Spasticity OMIM:611523
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ... OMIM:620021
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Sensorineural hearing impairment, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the... ORPHA:1192
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Peripheral axonal neuropathy, Ataxia, Clonus, Elevated circul... OMIM:615673
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Dysphagia, Depression, Bradykinesia, Gait disturbance, Sh... OMIM:168601
Optic Atrophy 11
Hyperactivity, Decreased sensory nerve conduction velocity, Ataxia, Optic nerve hypoplasia, Optic... OMIM:617302
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Sensorineural hearing impairment, Lateral... OMIM:617751
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive mannerisms ORPHA:530983
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... OMIM:618825
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Gait imbalance OMIM:618120
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma... OMIM:617600
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Failure to thrive, Lower limb spasticity, Ataxia, Tremor, Op... ORPHA:90321
Kufor-Rakeb Syndrome
Eyelid apraxia, Oculogyric crisis, Parkinsonism, Rigidity, Upper motor neuron dysfunction, Babins... ORPHA:306674
Chronic Bilirubin Encephalopathy
Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypertonia... ORPHA:529808
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia OMIM:612020
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok... OMIM:614381
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox... ORPHA:228402
Acute Bilirubin Encephalopathy
Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypertonia... ORPHA:529799
Spinocerebellar Ataxia 32
Azoospermia, Ataxia, Infertility, Testicular atrophy OMIM:613909
Full Schwannomatosis
Bilateral vestibular schwannoma, Hypoesthesia, Schwannoma, Peripheral schwannoma, Paresthesia, Fa... ORPHA:93921
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Dys... ORPHA:64753
Progressive Supranuclear Palsy
Impulsivity, Tremor, Rigidity, Unsteady gait, Dysphagia, Depression, Blepharospasm, Bradykinesia,... ORPHA:683
Trisomy X
Tremor, Attention deficit hyperactivity disorder, Secondary amenorrhea, Depression ORPHA:3375
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Ataxia, Tremor, Hypogonadism, Lethargy, Decreased testicular size OMIM:201100
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Truncal titubation, Abnormal cerebellum morphol... OMIM:618056
Charcot-Marie-Tooth Disease Type 4C
Cerebellar atrophy, Decreased motor nerve conduction velocity, Decreased number of peripheral mye... ORPHA:99949
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... ORPHA:70594
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Parkinsonism, Fa... OMIM:157640
Holocarboxylase Synthetase Deficiency
Lethargy, Ataxia, Anorexia ORPHA:79242
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Cerebellar hypoplasi... ORPHA:280210
East Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Inability to walk, Sensorineural hearin... ORPHA:199343
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... OMIM:620292
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Bipolar affective disorder, Ataxia, Facial palsy, Tremor, Rigidity, Gait ataxia, ... ORPHA:254892
Usher Syndrome Type 2
Aplasia/Hypoplasia of the cerebellum, Sensorineural hearing impairment, Abnormality of the inner ... ORPHA:231178
Central Diabetes Insipidus
Lethargy, Polydipsia, Anorexia, Depression ORPHA:178029
Maple Syrup Urine Disease
Lethargy, Hypertonia, Ataxia OMIM:248600
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Low-set ears OMIM:610498
Leukoencephalopathy With Ataxia
Action tremor, Limb ataxia, Gait ataxia OMIM:615651
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Small for gestational age, Abnormal auditory evoked potentials, Failure to th... OMIM:193700
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Rigidity, Tremor, Dystonia OMIM:615010
Tick-Borne Encephalitis
Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Incoordinatio... ORPHA:297
N-Acetylglutamate Synthase Deficiency
Lethargy, Aggressive behavior OMIM:237310
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Ataxia, Depression, Gait ataxia, Dysphagia, Hearing impairment OMIM:613077
Cystathioninuria
Tremor ORPHA:212
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Sensorineural hearing impairment, Abnormal pyramidal sign, Limb ataxia, Paraplegi... OMIM:105210
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, EEG with photoparoxysm... ORPHA:168491
Intellectual Developmental Disorder, Autosomal Recessive 79
Tongue thrusting, Gait ataxia OMIM:620393
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy, Ataxia OMIM:237300
Perry Syndrome
Parkinsonism, Tremor, Depression, Apathy, Abnormality of extrapyramidal motor function ORPHA:178509
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Impaired propr... OMIM:606002
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... OMIM:616586
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large earlobe, Abnormal ... ORPHA:411986
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Ataxia, Hypsarrhythmia, Continuous spike and waves dur... OMIM:619428
Rett Syndrome
Limb apraxia, Inability to walk, Bradykinesia, EEG abnormality, Gait disturbance, Abnormal autono... ORPHA:778
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior, Compulsive behaviors, Low-s... OMIM:618430
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... OMIM:277460
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Bruxism OMIM:300434
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Abnormal cerebellum morphology, Sensorineural hearing impairment, Babinski sign, Impaired... ORPHA:447753
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... OMIM:617808
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Hereditary Central Diabetes Insipidus
Lethargy, Polydipsia ORPHA:30925
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Abnormal repetitive mannerisms, Hearin... OMIM:610883
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myo... ORPHA:363400
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Pain insensitivity, Decreased body weight, Ataxia, Rigidity, Repetitive co... OMIM:300260
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Optic disc pallor, Hypergonadotropic hypogonadism, Tremor, Hypoesth... OMIM:619737
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Hypermanganesemia With Dystonia 1
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage gait, Abnorm... OMIM:613280
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... OMIM:311510
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Neurogenic bladder, Ataxia, Tremor, Sensorineural hearing impairment, Babinski... OMIM:618527
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Gait ataxia ORPHA:139480
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Abnormal e... ORPHA:98794
Hjv Or Hamp-Related Hemochromatosis
Lethargy, Impotence, Hypogonadism ORPHA:79230
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Involuntary movements, Increased theta frequency activity in EEG, Depression... ORPHA:98784
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Postural tremor, Ataxia OMIM:300619
Pontine Tegmental Cap Dysplasia
Ataxia, Facial palsy, Head titubation, Sensorineural hearing impairment, Dysmetria, Ankle clonus,... OMIM:614688
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Bruxism, Hearing impairment OMIM:616351
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Meningococcal Meningitis
Papilledema, Anorexia, Paresthesia, Lethargy, Hearing impairment ORPHA:33475
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy, Dysphagia OMIM:613561
4Q21 Microdeletion Syndrome
Tremor, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, Hearing impairment ORPHA:238750
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Distal Renal Tubular Acidosis
Paralysis, Sensorineural hearing impairment, Hypokalemia, Failure to thrive, Enlarged vestibular ... ORPHA:18
Tay-Sachs Disease
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Depression, ... ORPHA:845
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with... ORPHA:397612
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Tremor, Uns... ORPHA:1942
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Impulsivity, Rigidity, Dysphagia, Depression, Bradykinesi... ORPHA:411602
Intellectual Developmental Disorder With Autism And Macrocephaly
Pica, Recurrent hand flapping, Posteriorly rotated ears OMIM:615032
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, Truncal ataxia, Overfolded helix,... OMIM:617101
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Lethargy, Dystonia OMIM:277410
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnorm... OMIM:616393
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Dysesthesia, Rigidity, Dysmetria, Gait ataxia, Depression, Bradykinesia, Im... ORPHA:93256
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Sensorineural hearing impairment, Obesity, Choreoathetosis, Attention deficit hyp... ORPHA:261197
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Developmental And Epileptic Encephalopathy 46
Tremor, Dysphagia, Limb hypertonia OMIM:617162
Neuroferritinopathy
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Leg d... ORPHA:157846
Sialidosis Type 2
Tremor, Ataxia, Hearing impairment ORPHA:87876
Rett Syndrome, Congenital Variant
Pachygyria, Chorea, Tongue thrusting, Bruxism, Simplified gyral pattern, Protruding ear, Athetosi... OMIM:613454
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... OMIM:301029
Gillespie Syndrome
Cerebellar atrophy, Ataxia, Postural tremor, Slurred speech, Cerebellar hypoplasia OMIM:206700
Cockayne Syndrome A
Cerebellar atrophy, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Abnor... OMIM:216400
Cockayne Syndrome B
Small for gestational age, Cerebellar calcifications, Abnormal auditory evoked potentials, Abnorm... OMIM:133540
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... OMIM:234200
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Tremor, Obesity, Large earlobe, Gray matter heterotopia... OMIM:619312
Cerebral Creatine Deficiency Syndrome 1
Speech apraxia, Broad-based gait, Aganglionic megacolon, Aggressive behavior, Underfolded superio... OMIM:300352
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Cerebellar vermis atrophy, ... OMIM:617988
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Oromandibular Dystonia
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Hyperkinetic m... ORPHA:93958
Coffin-Siris Syndrome 7
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... OMIM:618027
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Ataxia ORPHA:42
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Primary amenorrhea, Depression... ORPHA:502423
Caribbean Parkinsonism
Orthostatic hypotension, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, ... ORPHA:97355
48,Xxyy Syndrome
Ataxia, Hypergonadotropic hypogonadism, Tremor, Cryptorchidism, Depression, Azoospermia, Infertil... ORPHA:10
Sneddon Syndrome
Tremor, Chorea, Vertigo, Hemiparesis ORPHA:820
Multiple Mitochondrial Dysfunctions Syndrome 1
Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function, Myoclonus, Leth... OMIM:605711
Postencephalitic Parkinsonism
Resting tremor, Oculogyric crisis, Akinesia, Involuntary movements, Rigidity, Babinski sign, Abno... ORPHA:97349
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Optic atrophy, Spastic tetraplegia, ... OMIM:617710
Sialidosis Type 1
Ataxia, Tremor, Decreased nerve conduction velocity, Sensorineural hearing impairment, Slurred sp... ORPHA:812
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Tremor, D... OMIM:218000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Agenesis of cerebellar vermis, Elevated circulating creatine kinase concent... OMIM:613153
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor, Dysphagia OMIM:619790
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Macrotia, Abnormal repeti... OMIM:619435
Biotinidase Deficiency
Lethargy, Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:253260
Nipah Virus Disease
Tremor, Myoclonus, Anorexia ORPHA:99825
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... ORPHA:313892
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Optic atrophy, Cataplexy, Spasticity OMIM:604121
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Anorexia OMIM:619386
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Dysmetria, Facial diplegia, Attention deficit hyperactivity disorder, Trunca... OMIM:619121
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Hypsarrhythmia, Stereotypical b... OMIM:300912
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Tremor, Decreased nerve conduction velocity, Depression, Facial diplegia, Fascicula... ORPHA:329478
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Agitation, Polyphagia ORPHA:276556
Citrullinemia Type Ii
Restlessness, Hyperactivity, Aggressive behavior, Tremor, Abnormal eating behavior, Mania, Lethar... ORPHA:247585
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Eyelid myoclonus, Self-injurio... ORPHA:208447
Bilateral Perisylvian Polymicrogyria
Cerebellar dysplasia, EEG with polyspike wave complexes, EEG with parietal focal spikes, Cerebell... ORPHA:98889
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ataxia, Optic atrophy, Hemiparesis, Gait disturbance, Spastic paraparesis,... ORPHA:395
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Gait ataxia, Low-set ears, Abnormal repetitive mannerisms, Overfriendliness OMIM:616579
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Biotinidase Deficiency
Ataxia, Optic neuropathy, Sensorineural hearing impairment, Optic atrophy, Spastic paraparesis, L... ORPHA:79241
Alazami Syndrome
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... ORPHA:319671
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Recurrent hand flapping, Self-injurious behavior, Macrotia, EEG abnormality OMIM:617268
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m... ORPHA:500159
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Abnormal head movements, Cerebellar edema, Multifocal epileptiform di... ORPHA:363558
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal repetitive mannerisms, Low-set ears OMIM:613443
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Dysphagia, Bilateral conductive hearing impairment, Low-set ears, Interictal epileptiform activit... OMIM:617802
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Facial palsy, Elevated circulating creatine kinase concentration, I... OMIM:613155
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Limb hypertonia, Cerebellar hypoplasia,... OMIM:620327
Developmental And Epileptic Encephalopathy 4
Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraplegia, Hypsarrhythmia, Chor... OMIM:612164
Angelman Syndrome Due To A Point Mutation
Ataxia, Abnormal eating behavior, Tongue thrusting, EEG abnormality, Inappropriate laughter, Dysp... ORPHA:411511
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Agitation, Polyphagia ORPHA:276575
Trisomy 10P
Small for gestational age, Posteriorly rotated ears, Abnormal auditory evoked potentials, Poor mo... ORPHA:171929
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:228384
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Agitation, Polyphagia ORPHA:276580
Schwannomatosis, Vestibular
Ataxia, Bilateral vestibular schwannoma, Vertigo, Peripheral schwannoma, Occasional neurofibromas... OMIM:101000
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, EEG with generalized polyspikes, EEG with generalized... ORPHA:163681
Combined Oxidative Phosphorylation Deficiency 11
Lethargy, Myoclonus, Tongue fasciculations, Hearing impairment OMIM:614922
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy, Agitation, Polyphagia ORPHA:324575
Rett Syndrome
Dystonia, Cachexia, Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, Spasticity, Cerebral cort... OMIM:312750
Optic Atrophy-Intellectual Disability Syndrome
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Compulsive... ORPHA:401777
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Abnormal repe... ORPHA:3306
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Sensorineural hearing... ORPHA:99956
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms ORPHA:79155
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration,... OMIM:615181
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyp... OMIM:300986
Megalocornea-Intellectual Disability Syndrome
Ataxia, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Abnormal repetitive ma... ORPHA:2479
22Q11.2 Duplication Syndrome
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... ORPHA:1727
Riboflavin Deficiency
Lethargy OMIM:615026
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Abnormal posturing, Failure to thrive OMIM:614857
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation, Impaired tactile sensation, Gait... ORPHA:466768
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Ataxia, Abnormal pyramidal sign OMIM:201470
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... ORPHA:449291
Cri-Du-Chat Syndrome
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Small for gestational age, Aggressive... OMIM:123450
Classic Phenylketonuria
Tremor, Paraplegia, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity disorder... ORPHA:79254
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Sensorineural hearing impairment, Babinski sign, Opti... ORPHA:314404
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity OMIM:616840
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Decreased nerve conduction velocity, Vocal cord paralysis, Bilateral sensorineural hearin... ORPHA:397744
Wolfram Syndrome 1
Neurogenic bladder, Ataxia, Tremor, Sensorineural hearing impairment, Optic atrophy, Cerebral atr... OMIM:222300
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Anorexia, Spastic hemiparesis, Hypsarrhythmia, EEG abnormality, Apathy, Myoclonus, Lethar... ORPHA:20
Saethre-Chotzen Syndrome
Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Optic atrop... ORPHA:794
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Tremor, Cryptorchidism, Gait ataxi... OMIM:300354
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tremor, Lethargy, Agitation ORPHA:263455
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia... OMIM:617061
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Brain atrophy, Hearing impairment OMIM:620114
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Optic nerve hypoplasia, Inability to walk, Sensorineural hearing imp... ORPHA:300570
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy ORPHA:28
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Addictive behavior, Tip-toe ... ORPHA:512
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Overweight, Repetitive compulsive behavior, Oromotor apraxia, Abnormality of the ear, Attention d... ORPHA:391372
Isolated Complex I Deficiency
Optic disc pallor, Ataxia, Optic neuropathy, Sensorineural hearing impairment, Lethargy ORPHA:2609
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses... OMIM:617796
Methylcobalamin Deficiency Type Cble
Lethargy, Lower limb hypertonia, Hearing impairment ORPHA:2169
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Lo... ORPHA:401973
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Imp... OMIM:146500
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Speech apraxia, Clonus, Poor coordination, Abnormal pyramidal sign,... ORPHA:415
Coenzyme Q10 Deficiency, Primary, 1
Hypergonadotropic hypogonadism, Ataxia, Tremor, Sensorineural hearing impairment, Myoclonus, Dysp... OMIM:607426
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
EEG abnormality, Recurrent hand flapping, Pica, Low-set ears OMIM:618480
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Cerebellar atrophy, Ataxia, Hypomagnesemia, Sensorineural hearing impairment, Dysdiadochokinesis,... OMIM:612780
Ataxia-Telangiectasia
Ataxia, Tremor, Gait disturbance, Spasticity, Failure to thrive ORPHA:100
Sim1-Related Prader-Willi-Like Syndrome
Hypogonadotropic hypogonadism, Impaired temperature sensation, Cryptorchidism, Primary amenorrhea... ORPHA:398079
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Hearing impairment OMIM:278760
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Scrub Typhus
Tremor, Lethargy ORPHA:83317
Propionic Acidemia
Lethargy, Limb hypertonia, Dystonia OMIM:606054
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Poor motor coordination, Parkinsonism, Cerebral atrophy, C... ORPHA:79264
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... ORPHA:488618
Childhood Absence Epilepsy
Depression, Punding, Attention deficit hyperactivity disorder, Limb myoclonus, Jerky head movemen... ORPHA:64280
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Intellectual Developmental Disorder, Autosomal Dominant 51
Aggressive behavior, Fixated interests, Tics, Attention deficit hyperactivity disorder, Recurrent... OMIM:617788
Pettigrew Syndrome
Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Gait ataxia, Choreoathetosi... OMIM:304340
Trichinellosis
Facial palsy, Vertigo, Babinski sign, Hemiparesis, Apathy, Dysphagia, Hemiplegia, Lethargy, Tinnitus ORPHA:863
3P25.3 Microdeletion Syndrome
Ataxia, Sensorineural hearing impairment, Abnormality of the outer ear, Attention deficit hyperac... ORPHA:435638
Familial Thyroid Dyshormonogenesis
Lethargy, Sensorineural hearing impairment ORPHA:95716
Developmental And Epileptic Encephalopathy 87
Recurrent hand flapping, Hypsarrhythmia OMIM:618916
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Posteriorly rotated ears, Ataxia, Tremor, Inability to walk, Overweight, O... OMIM:619229
Glutaric Acidemia Type 3
Lethargy, Impulsivity ORPHA:35706
Amish Nemaline Myopathy
Tremor ORPHA:98902
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Sensorineural hearing impairment, Self-injurious behavior, Brain atrophy, Limb... ORPHA:457351
Branchiootic Syndrome
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... ORPHA:52429
Dilated Cardiomyopathy With Ataxia
Lower limb spasticity, Ataxia, Repetitive compulsive behavior, Atrophy/Degeneration affecting the... ORPHA:66634
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
Cardiospondylocarpofacial Syndrome
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... OMIM:157800
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... OMIM:618914
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter OMIM:618347
Smith-Magenis Syndrome
Impaired pain sensation, Self-injurious behavior, EEG abnormality, Attention deficit hyperactivit... ORPHA:819
Angelman Syndrome
Optic disc pallor, Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inabilit... ORPHA:72
O'Sullivan-Mcleod Syndrome
Tremor, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Dystonia, Ataxia, Optic atrophy, Tetraplegia, Fasciculations, Progressive spa... ORPHA:496641
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Hemiplegia/hemiparesis ORPHA:156
Kallmann Syndrome
Dyspareunia, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Sensorineural hearing... ORPHA:478
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia ORPHA:572013
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnormal repeti... OMIM:615656
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Opisthotonus OMIM:210200
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Spasticity, Ataxia, Hearing impairment, Intention tremor OMIM:117300
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r... OMIM:613174
Joubert Syndrome With Renal Defect
Low-set, posteriorly rotated ears, Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Aganglion... ORPHA:220497
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Impaired temperature sensation, Cryptorchidism, Primary amenorrhea, Hypogonadism, In... ORPHA:398069
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy OMIM:619064
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Otofaciocervical Syndrome 1
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea OMIM:166780
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Aganglionic megacolon, Tremor, Hydrocephalus... ORPHA:475
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia ORPHA:79330
Niemann-Pick Disease Type C
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compulsive behaviors, Limb dyst... ORPHA:646
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Non-Functioning Paraganglioma
Pulsatile tinnitus, Tremor, Paroxysmal vertigo, Cranial nerve compression, Vocal cord paralysis, ... ORPHA:94080
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy, Limb dystonia OMIM:604377
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Babinski sign, Tip-toe gait, Frequent falls ORPHA:746
Full Nf2-Related Schwannomatosis
Somatic sensory dysfunction, Facial palsy, Bilateral vestibular schwannoma, Abnormal cerebellum m... ORPHA:637
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat... ORPHA:522077
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance ORPHA:83629
Warsaw Breakage Syndrome
Optic disc coloboma, Hypoplasia of the cochlea, Cupped ear, Hearing impairment OMIM:613398
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Ataxia, Tongue thrusting, Pica, Stereotypical body rocking, Tics OMIM:617865
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Proximal 16P11.2 Microduplication Syndrome
Bipolar affective disorder, Tremor, Microtia, Attention deficit hyperactivity disorder, Compulsiv... ORPHA:370079
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Dystonia, Agitation, Gait disturbance, Abnormal autonomic nervous system physiology, Bruxism, Rec... OMIM:617903
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms OMIM:301094
Multifocal Atrial Tachycardia
Cryptorchidism, Lethargy ORPHA:3282
Transcobalamin Ii Deficiency
Lethargy, Ataxia OMIM:275350
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... OMIM:615960
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Anorexia OMIM:611590
Symptomatic Form Of Hfe-Related Hemochromatosis
Hypogonadotropic hypogonadism, Apathy, Infertility, Erectile dysfunction, Lethargy, Testicular at... ORPHA:465508
Joubert Syndrome 6
Abnormal repetitive mannerisms, Ataxia OMIM:610688
Snijders Blok-Campeau Syndrome
Speech apraxia, Broad-based gait, Unsteady gait, Attention deficit hyperactivity disorder, Low-se... OMIM:618205
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Sensorineural hearing impairment, Unilateral vocal cord paresis, Spinal dysraphism, Incomplete pa... OMIM:617660
Choreoacanthocytosis
Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, ... ORPHA:2388
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Weight loss, Periodic paralysis OMIM:613239
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Episodic ataxia, Lethargy, Ataxia OMIM:311250
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Hypogonadism, Ataxia, Depression ORPHA:79095
Encephalitis Lethargica
Tremor, Lethargy, Parkinsonism ORPHA:83600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, C... OMIM:615356
Phelan-Mcdermid Syndrome
Impaired pain sensation, Aggressive behavior, Tongue thrusting, Protruding ear, Bruxism, Macrotia... OMIM:606232
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Sensorineural hearing impairment, Optic nerve dysplasia, Optic atrophy, Athetosis... OMIM:614866
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Poor coordination, Poor fine motor coordination, Attention de... OMIM:620242
Kleefstra Syndrome 1
Abnormal pinna morphology, Aggressive behavior, Compulsive behaviors, Abnormal repetitive manneri... OMIM:610253
Alobar Holoprosencephaly
Abnormal central motor function, Inability to walk, Sensorineural hearing impairment, Oromotor ap... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal central motor function, Inability to walk, Sensorineural hearing impairment, Oromotor ap... ORPHA:93926
Lobar Holoprosencephaly
Abnormal central motor function, Inability to walk, Sensorineural hearing impairment, Oromotor ap... ORPHA:93924
Semilobar Holoprosencephaly
Abnormal central motor function, Inability to walk, Sensorineural hearing impairment, Oromotor ap... ORPHA:220386
Supranuclear Palsy, Progressive, 1
Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia... OMIM:601104
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi... ORPHA:2306
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Sensorineural hearing impairment, Abnormal pinna morphology, Lethargy OMIM:607143
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Posteriorly rotated ears, Hemidystonia, Aggressive behavior, Tremor,... OMIM:619680
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... ORPHA:572798
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear ORPHA:261144
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Failure to thrive, Babinski sign, Cerebral atrophy, Prominent antihelix, Hypertonia, Inappropriat... OMIM:615802
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Caudate atr... OMIM:615574
Citrullinemia, Classic
Lethargy, Ataxia OMIM:215700
Congenital Disorder Of Glycosylation, Type Iia
Failure to thrive, Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairmen... OMIM:212066
Deafness, Unilateral
Unilateral deafness OMIM:125000
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Tr... ORPHA:25
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Attention deficit hyperactivity disorder, Low-set ears, Frequent temper tantrums, A... OMIM:619103
Joubert Syndrome With Ocular Defect
Low-set, posteriorly rotated ears, Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Aganglion... ORPHA:220493
Hypercalcemia, Infantile, 1
Lethargy OMIM:143880
Blepharophimosis-Impaired Intellectual Development Syndrome
Posteriorly rotated ears, Attention deficit hyperactivity disorder, Low-set ears, Abnormal repeti... OMIM:619293
White-Sutton Syndrome
Waddling gait, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavi... OMIM:616364
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Neurodegeneration, Cerebral atrophy, Dystonia ORPHA:309246
Benign Schwannoma
Facial palsy, Hearing abnormality, Vertigo, Schwannoma, Peripheral schwannoma, Abnormality of the... ORPHA:252164
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Large earlobe, Bruxism OMIM:615716
Isovaleric Acidemia
Lethargy OMIM:243500
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Tremor OMIM:605355
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Ataxia, Optic neuropathy, Sensorineural hearing impairment, Babinski sign, Ton... OMIM:252010
Hyperlysinemia
Neck hypertonia, Hyperactivity, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic di... ORPHA:2203
Carnitine Deficiency, Systemic Primary
Lethargy OMIM:212140
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Abnormal temper tantrums, Low-set ears, Abnormal repetitive mannerisms ORPHA:457279
Alkuraya-Kucinskas Syndrome
Posteriorly rotated ears, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Low-set ... OMIM:617822
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Tremor, Abnormality of extrapyramidal motor function, Low-set ears, Lethargy, Macrotia OMIM:277400
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Optic nerve hypoplasia, Type II lissencephaly, Elevated circulating creatine kinase conce... OMIM:236670
Developmental And Epileptic Encephalopathy 66
Abnormal repetitive mannerisms OMIM:618067
Charge Syndrome
Low-set, posteriorly rotated ears, Facial palsy, External ear malformation, Aplasia/Hypoplasia of... ORPHA:138
Norrie Disease
Clonus, Cachexia, Macrotia, Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abno... ORPHA:649
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ab... OMIM:619695
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy, Cerebral palsy, Opisthotonus OMIM:210210
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Posteriorly rotated ears, Ataxia, Prominent crus of helix, Chorea, Low-set ears, Bruxism, Macroti... OMIM:617804
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity d... ORPHA:476126
Nmda Receptor Encephalitis
Orthostatic hypotension, Oculogyric crisis, Involuntary movements, Orthostatic tachycardia, Rigid... ORPHA:217253
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Cerebral cortical atrophy OMIM:618201
Tetanus
Tremor, Rigidity, Opisthotonus, Hypertonia, Abnormal autonomic nervous system physiology, Autonom... ORPHA:3299
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma... ORPHA:90024
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intent... OMIM:254900
Noonan Syndrome
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... ORPHA:648
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Incoordination, Lethargy, Microtia, Low-set ears OMIM:277380
Alternating Hemiplegia Of Childhood
Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnor... ORPHA:2131
Hydranencephaly
Optic nerve hypoplasia, Spastic diplegia, Opisthotonus, Infantile sensorineural hearing impairmen... ORPHA:2177
Schinzel-Giedion Syndrome
Abnormality of the stapes, Aganglionic megacolon, Vocal cord paralysis, Hypsarrhythmia, Chiari ty... ORPHA:798
Evans Syndrome
Lethargy ORPHA:1959
Distal Xq28 Microduplication Syndrome
Impulsivity, Aggressive behavior, Self-biting, Microtia, Stereotypical body rocking, Attention de... ORPHA:293939
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy OMIM:618232
Alexander Disease
Ataxia, Clonus, Facial palsy, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Depression, E... ORPHA:58
White-Sutton Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitive mannerisms, Sen... ORPHA:468678
Methylmalonic Aciduria, Cbla Type
Tremor, Lethargy OMIM:251100
Infantile Liver Failure Syndrome 2
Lethargy OMIM:616483
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Unilateral Polymicrogyria
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... ORPHA:268943
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spastic diplegia, Spasticity, P... OMIM:300966
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Macrotia, Cerebral cortical atrophy, EEG wi... OMIM:617864
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Hyperkinetic movements, Myoclo... OMIM:616271
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebellar edema, Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Cervical myelopathy, Tetrapa... OMIM:617186
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Hyperactivity, Aggressive behavior, Tremor, Abnormal earlobe morphology, EEG ab... ORPHA:85293
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy ORPHA:320406
2Q37 Microdeletion Syndrome
Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann... ORPHA:1001
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Protruding ear, Hypertonia, Tics, Otitis media, Compulsive behaviors, Decreased body weig... OMIM:619475
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set ears, Attention ... OMIM:619575
Argininosuccinic Aciduria
Lethargy, Ataxia OMIM:207900
Isolated Thyroid-Stimulating Hormone Deficiency
Clumsiness, Depression, Attention deficit hyperactivity disorder, Macroorchidism, Lethargy ORPHA:90674
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Premature ovarian insufficiency, Anorexia, Vertigo, Lethargy ORPHA:199299
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
EEG with focal epileptiform discharges, EEG abnormality, Tongue thrusting, Dysphagia ORPHA:98795
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Polyphagia,... ORPHA:96121
Carnitine Palmitoyltransferase I Deficiency
Lethargy OMIM:255120
D-Glyceric Aciduria
Sensorineural hearing impairment, Tongue thrusting, Optic nerve hypoplasia, Hypsarrhythmia OMIM:220120
Staphylococcal Necrotizing Pneumonia
Lethargy, Addictive alcohol use ORPHA:36238
Pitt-Hopkins Syndrome
Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Abnormal repetitive mannerisms OMIM:610954
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy ORPHA:2089
Niemann-Pick Disease, Type C2
Dystonia, Ataxia, Dysphagia, Cataplexy, Spasticity, Abnormal repetitive mannerisms OMIM:607625
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Oculomotor ... ORPHA:1454
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Low-set ears, Cerebellar dysplasia ORPHA:8
Holocarboxylase Synthetase Deficiency
Lethargy, Hypertonia OMIM:253270
Ataxia-Telangiectasia
Ataxia, Female hypogonadism, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progress... OMIM:208900
Duane Retraction Syndrome
External ear malformation, Sensorineural hearing impairment, Blepharospasm, Stenosis of the exter... ORPHA:233
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Hyperactivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Aggressive behavior... OMIM:614756
Hypotonia, Ataxia, And Delayed Development Syndrome
Pain insensitivity, Posteriorly rotated ears, Ataxia, Overfolded helix, Dysmetria, Gait ataxia, D... OMIM:617330
Japanese Encephalitis
Decreased motor nerve conduction velocity, Dystonia, Weakness due to upper motor neuron dysfuncti... ORPHA:79139
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Cerebellar atrophy, Optic disc pallor, Optic nerve hypoplasia,... ORPHA:468631
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Aggressive behavior, Cupped ear, Protruding ear, Self-injurious behavior, Microtia, Inapp... OMIM:156200
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Optic atrophy, Poor fine motor coordination, Low-set ears, Lethargy ORPHA:79282
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy OMIM:201450
Kleefstra Syndrome
Aggressive behavior, Chronic otitis media, Self-injurious behavior, Thickened helices, Abnormal r... ORPHA:261494
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy, Overfolded helix, Posteriorly rotated ears, Low-set ears OMIM:608836
Serotonin Syndrome
Restlessness, Clonus, Tremor, Rigidity, Hypertonia, Agitation, Myoclonus ORPHA:43116
Amoebiasis Due To Free-Living Amoebae
Restlessness, Ataxia, Facial palsy, Hemiparesis, Lethargy ORPHA:68
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Protruding ear, Hypsarrhythmia, Low-set ears, Dysphagia, Abnormal re... ORPHA:447997
Intellectual Developmental Disorder, Autosomal Dominant 22
Stereotypical hand wringing, Abnormal pinna morphology, Low-set ears, Bruxism OMIM:612337
Developmental And Epileptic Encephalopathy 2
EEG with generalized slow activity, Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:300672
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, EEG abnormality, Attention deficit hyperactivity disorder, Abnormal repe... OMIM:619005
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy OMIM:251000
Cystinosis
Abnormal pyramidal sign, Gait disturbance, Polydipsia, Failure to thrive, Abnormal repetitive man... ORPHA:213
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Neurodegeneration, Cerebral atrophy, Dystonia OMIM:272750
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy OMIM:201475
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy, Limb hypertonia OMIM:620306
Pseudo-Torch Syndrome 2
Lethargy OMIM:617397
Dengue Fever
Lethargy ORPHA:99828
Glycine Encephalopathy
Lethargy, EEG with burst suppression, EEG abnormality ORPHA:407
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620073
Gabriele-De Vries Syndrome
Waddling gait, Posteriorly rotated ears, Tremor, Cryptorchidism, Tip-toe gait, Low-set ears, Dyst... OMIM:617557
Legius Syndrome
Neurofibroma, Chiari type I malformation, Vestibular schwannoma, Dystonia, Hearing impairment ORPHA:137605
Early Infantile Epileptic Encephalopathy
Hyperactivity, Tremor, EEG with burst suppression, Hypsarrhythmia, Choreoathetosis, EEG abnormali... ORPHA:1934
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pulsatile tinnitus, Tremor, Paroxysmal vertigo, Cranial nerve compression, Vocal cord paralysis, ... ORPHA:276621
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Developmental And Epileptic Encephalopathy 100
Chorea, EEG with photoparoxysmal response, Gait ataxia, Choreoathetosis, Dysphagia, Abnormal repe... OMIM:619777
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy OMIM:212138
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Recurrent otitis media, Lethargy, Hemiparesis OMIM:620233
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Hypertriglyceridemia, Hypercalcemia, Multifocal epileptiform discharges, EEG ... ORPHA:369837
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebellar atrophy, Posteriorly rotated ears, Tremor, Cupped ear, Spasticity, Cerebral atrophy, L... OMIM:614080
Treacher-Collins Syndrome
Blepharospasm, Microtia, Conductive hearing impairment, Abnormality of the middle ear, Failure to... ORPHA:861
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Tremor, Spastic diplegia, Tetraparesis, Failure to thrive OMIM:613179
Fructose-1,6-Bisphosphatase Deficiency
Lethargy OMIM:229700
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Incoordination, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Optic ... OMIM:614947
Mercury Poisoning
Tremor, Anorexia, Dystonia ORPHA:330021
Renal Hypoplasia, Bilateral
Cryptorchidism, Lethargy ORPHA:97362
Ebola Hemorrhagic Fever
Lethargy, Dysphagia ORPHA:319218
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Depression ORPHA:99832
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Self-in... OMIM:619512
Dpagt1-Cdg
EEG with generalized slow activity, Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to w... ORPHA:86309
Bainbridge-Ropers Syndrome
Failure to thrive, Posteriorly rotated ears, Inability to walk, Self-injurious behavior, Hyperton... OMIM:615485
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy OMIM:609015
Necrotizing Enterocolitis
Lethargy ORPHA:391673
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Low-set ears, Abnormal repe... OMIM:301040
Okur-Chung Neurodevelopmental Syndrome
Ataxia, Cupped ear, Low-set ears, Attention deficit hyperactivity disorder, Frequent temper tantr... OMIM:617062
Hyperekplexia 3
Exaggerated startle response OMIM:614618
9P13 Microdeletion Syndrome
Abnormality of cartilage of external ear, Bruxism, Attention deficit hyperactivity disorder, Low-... ORPHA:324313
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Familial Hypoaldosteronism
Lethargy, Orthostatic hypotension ORPHA:427
Vici Syndrome
Failure to thrive, Abnormal posturing, Cerebellar vermis hypoplasia OMIM:242840
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Pachygyria, Repetitive compulsive behavior, Abnormal Eustachian tube morphology... ORPHA:513456
Mucopolysaccharidosis Type 2
Otosclerosis, Hyperactivity, Papilledema, Impulsivity, Aggressive behavior, Decreased nerve condu... ORPHA:580
Developmental And Epileptic Encephalopathy 49
EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy OMIM:617281
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy ORPHA:159
Oculopharyngodistal Myopathy 1
Ataxia, Facial palsy, Tremor, Sensorineural hearing impairment, Difficulty walking, Dysphagia OMIM:164310
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Diffuse cerebral atrophy, Low-set ears, Dystonia, Macrotia, Hearing... ORPHA:79255
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, EEG with central f... OMIM:301066
Pineoblastoma
Lethargy, Papilledema, Paralysis ORPHA:251909
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:26793
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:71212
Sandhoff Disease, Infantile Form
Exaggerated startle response, Cerebral cortical atrophy ORPHA:309155
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Exaggerated startle response, Dystonia ORPHA:438216
Methylmalonic Aciduria, Cblb Type
Lethargy OMIM:251110
Cirrhosis, Familial
Lethargy OMIM:215600
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Low-set ears OMIM:617301
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Small for gestational age, Abnormality of neuronal migration, Protruding ear, ... ORPHA:464311
Exercise-Induced Malignant Hyperthermia
Lethargy, Vertigo, Ataxia ORPHA:466650
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy ORPHA:79284
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Sensorineural hearing impairment, Hypogonadotropic hypogonadism, Optic nerve hypoplasia ORPHA:226307
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Abnormal repetitive mannerisms ORPHA:319182
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Genetic Transient Congenital Hypothyroidism
Lethargy ORPHA:226316
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Impulsivity, Unilateral vocal cord paralysis, Cerebral atrophy, Protruding ea... OMIM:301030
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive beh... OMIM:620330
Kinsship Syndrome
Spastic tetraparesis, Myoclonus, Low-set ears, Bruxism, Brain atrophy, Failure to thrive, Abnorma... OMIM:619297
Charge Syndrome
Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Sensorineural hearing ... OMIM:214800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Posteriorly rotated ears, Small for gestational age, Cupped ear, Poor coordination... OMIM:309590
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
African Trypanosomiasis
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... ORPHA:3385
Cholera
Lethargy ORPHA:173
Histiocytoid Cardiomyopathy
Hemiplegia, Lethargy, Optic atrophy ORPHA:137675
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy OMIM:615751
Glycerol Kinase Deficiency
Cryptorchidism, Lethargy, Low-set ears OMIM:307030
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hyperactivity, Failure to thrive, Small for gestational age, Protruding ear, G... ORPHA:464306
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy ORPHA:90673
Prader-Willi Syndrome Due To Translocation
Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... ORPHA:177907
Floating-Harbor Syndrome
Speech apraxia, Broad-based gait, Cochlear malformation, Low-set ears, Conductive hearing impairment ORPHA:2044
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Cerebral cor... OMIM:617527
Meier-Gorlin Syndrome 1
Microtia, Atresia of the external auditory canal, Low-set ears, Incomplete partition of the cochl... OMIM:224690
Posterior Urethral Valve
Lethargy ORPHA:93110
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Posteriorly rotated ears, Facial palsy, Abnormal repetitive mannerisms, Cupped ear... OMIM:615873
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353281
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Difficulty walking, Low-set ears, Overfolded helix, Abnormal repetitive mannerisms OMIM:618653
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease
Exaggerated startle response, Orthostatic hypotension OMIM:268800
Pearson Marrow-Pancreas Syndrome
Lethargy, Anorexia OMIM:557000
Multiple Endocrine Neoplasia Type 1
Anorexia, Cranial nerve compression, Depression, Impotence, Lethargy, Decreased male libido, Amen... ORPHA:652
Monosomy 22Q13.3
Hyperactivity, Impaired pain sensation, Hair-pulling, Bruxism, Macrotia, Hearing impairment ORPHA:48652
Complete Atrioventricular Septal Defect
Lethargy ORPHA:1329
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Abnormal repetitive manneri... ORPHA:508498
Hereditary Fructose Intolerance
Lethargy ORPHA:469
Arboleda-Tham Syndrome
Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Optic atrophy, Dysphag... OMIM:616268
Marburg Hemorrhagic Fever
Anorexia, Aggressive behavior, Dysesthesia, Orchitis, Lethargy ORPHA:99826
Cog1-Cdg
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Microtia, Failure to thrive, Cer... ORPHA:263508
Costello Syndrome
Posteriorly rotated ears, Chiari type I malformation, Vestibular schwannoma, Low-set ears, Failur... OMIM:218040
3-Methylglutaconic Aciduria, Type Viii
Clonus, Tremor, Sensorineural hearing impairment, Dysphagia, Hypertonia, Dystonia OMIM:617248
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Elevated circulating creatine kinase concentration, Pachygyria, Optic atrop... OMIM:253280
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Hemiplegia/hemiparesis, Sensorineural hearing impairment, Poly... ORPHA:1606
Diamond-Blackfan Anemia
Lethargy, Microtia, Low-set ears ORPHA:124
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Hypertonia, Abnormal repetitive mannerisms, Opisthotonus ORPHA:508533
Primrose Syndrome
Restlessness, Calcification of the auricular cartilage, Ataxia, Aggressive behavior, Superiorly d... OMIM:259050
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Posteriorly rotated ears, Hypsarrhythmia, EEG abnormality, Overfolded helix, Abnormal repetitive ... OMIM:301044
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Lethargy OMIM:617156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy OMIM:253800
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Tremor, Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Truncal obesit... OMIM:612474
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Sensorineural hearin... OMIM:619325
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Protruding ear, Self-injurious behavior, EEG abnormality, Atte... ORPHA:534
Lysinuric Protein Intolerance
Lethargy, Oral aversion ORPHA:470
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353277
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Exaggerated startle response, EEG with generalized slow activity OMIM:618367
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Sensorineural hearing impairment, EEG abnormality, Conductive hearing ... OMIM:194190
Ogden Syndrome
Protruding ear, Low-set ears, Dysphagia, Recurrent otitis media, Macrotia, Abnormal repetitive ma... OMIM:300855
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attent... OMIM:619522
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy OMIM:218700
Proteus Syndrome
Cachexia, Gray matter heterotopia, Low-set ears, Macrotia, Narrow internal auditory canal ORPHA:744
Paroxysmal Nocturnal Hemoglobinuria
Lethargy, Impotence, Dysphagia ORPHA:447
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Self-injurious b... ORPHA:805
Fructose Intolerance, Hereditary
Lethargy OMIM:229600
Eisenmenger Syndrome
Lethargy, Vertigo ORPHA:97214
Mowat-Wilson Syndrome
Posteriorly rotated ears, Ataxia, Uplifted earlobe, Impaired pain sensation, Aganglionic megacolo... ORPHA:2152
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Abnormal repetitive mannerisms OMIM:616682
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Impaired pai... ORPHA:261537
Lowe Oculocerebrorenal Syndrome
Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Impaired pain sensation, Senso... ORPHA:261552
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Dystonia ORPHA:438213

Histopathology

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

There is no histopathology data for Atp2b2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Atp2b2.

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

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Atp2b2Obv PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Atp2b2Obl PMC6459510

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Atp2b2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Atp2b2Obv Reporter-tagged deletion allele (with selection cassette) ES Cells
Atp2b2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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