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Gene: Grid2 MGI:95813

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
glutamate receptor, ionotropic, delta 2
Synonyms:
B230104L07Rik,  tpr,  GluRdelta2

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Grid2 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 Grid2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cerebellar vermis atrophy, Difficulty walking, Limb ataxia, Truncal ataxia, Brain atrophy ORPHA:363432
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Cerebellar vermis atrophy, Incoordination, Gait ataxia, Dysmetria, Babinski s... OMIM:616204

The table below shows human diseases predicted to be associated to Grid2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lentigines
Nystagmus OMIM:150900
Nystagmus 7, Congenital, Autosomal Dominant
Horizontal pendular nystagmus OMIM:614826
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Chorea, Benign Familial
Chorea OMIM:215450
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia
Abnormality of eye movement, Nystagmus, Episodic ataxia ORPHA:1179
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Nystagmus 8, Congenital, Autosomal Recessive
Congenital nystagmus, Nystagmus OMIM:257400
Spinocerebellar Ataxia Type 5
Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech ORPHA:98766
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe... OMIM:615268
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Episodic Ataxia Type 5
Truncal ataxia, Gaze-evoked nystagmus, Ataxia ORPHA:211067
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Vestibular areflexia, Sensorineural hearing impairment OMIM:616042
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy OMIM:605388
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Cerebellar atrophy OMIM:617769
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Spastic Paraplegia 72B, Autosomal Recessive
Spasticity, Difficulty walking, Gait ataxia, Babinski sign, Spastic gait OMIM:620606
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
X-Linked Spastic Paraplegia Type 34
Shuffling gait, Impaired vibration sensation in the lower limbs, Ankle clonus, Babinski sign, Low... ORPHA:171607
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Spasticity, Clonus, Tip-toe gait OMIM:607584
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia, Cerebellar atrophy OMIM:617133
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a... ORPHA:94122
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Vestibulocochlear Dysfunction, Progressive
Tinnitus, Vestibular areflexia, Progressive hearing impairment OMIM:193005
Spinocerebellar Ataxia 29
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, C... OMIM:117360
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... ORPHA:171622
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spinocerebellar Ataxia 31
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:117210
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor ORPHA:217012
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spastic Paraplegia 32, Autosomal Recessive
Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Ankle clonus, Babin... OMIM:611252
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Nystagmus, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Cerebellar Ataxia, Benign, With Thermoanalgesia
Impaired temperature sensation, Progressive cerebellar ataxia OMIM:212890
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s... ORPHA:101010
Spastic Paraplegia 61, Autosomal Recessive
Inability to walk, Spastic paraplegia, Spasticity, Scissor gait OMIM:615685
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Motor deterioration, ... ORPHA:98765
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex OMIM:164150
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... OMIM:616053
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,... OMIM:611302
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cerebellar vermis atrophy, Difficulty walking, Limb ataxia, Truncal ataxia, Brain atrophy ORPHA:363432
Dystonia 3, Torsion, X-Linked
Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Tremor OMIM:314250
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Impaired distal propri... OMIM:619742
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Tip-toe gait, Fasciculations, Difficulty walking, Ankle clonus, Hoffmann sign, Babins... OMIM:615681
Amyotrophic Lateral Sclerosis 3
Cerebellar atrophy OMIM:606640
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, ... OMIM:600143
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... OMIM:617018
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia, Nystagmus ORPHA:284282
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
X-Linked Complicated Spastic Paraplegia Type 1
Spastic paraplegia, Mental deterioration, Cognitive impairment, Ataxia, Upper motor neuron dysfun... ORPHA:306617
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Slow saccadic ... ORPHA:101108
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls, Fasciculations, C... ORPHA:397946
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... OMIM:609270
Spinocerebellar Ataxia 11
Cerebellar atrophy, Gait imbalance, Gait ataxia, Limb ataxia, Truncal ataxia, Progressive cerebel... OMIM:604432
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, ... ORPHA:284332
Striatal Degeneration, Autosomal Dominant 2
Chorea, Parkinsonism OMIM:616922
Spastic Ataxia 7, Autosomal Dominant
Abnormal conjugate eye movement, Babinski sign, Spastic ataxia, Nystagmus, Dysdiadochokinesis OMIM:108650
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Lower limb spasticity, Ataxia, Truncal at... OMIM:616948
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation ORPHA:98771
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Truncal ataxia, U... ORPHA:314978
Chorea, Benign Hereditary
Chorea, Frequent falls OMIM:118700
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Pontocerebella... ORPHA:423275
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo... ORPHA:98762
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Episodic Ataxia, Type 8
Episodic ataxia, Nystagmus, Ataxia, Intention tremor, Slurred speech OMIM:616055
Spinocerebellar Ataxia 27A
Impaired vibratory sensation, Impaired smooth pursuit, Strabismus, Postural tremor, Limb ataxia, ... OMIM:193003
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction
Spasticity, Cerebellar atrophy, Cerebral atrophy, Gait disturbance, Spastic tetraparesis OMIM:620515
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Impaired vibratory sensation, Saccadic smooth pursuit, Impaired pain sensation, Impaired horizont... OMIM:614575
Spastic Paraplegia 72A, Autosomal Dominant
Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho... OMIM:615625
Ataxia, Sensory, 1, Autosomal Dominant
Decreased amplitude of sensory action potentials, Dysesthesia, Positive Romberg sign, Gait ataxia... OMIM:608984
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Hypogonadotropic hypogonadism, Ataxia ORPHA:1180
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Autosomal Recessive Spastic Paraplegia Type 24
Spastic paraplegia, Spasticity, Tip-toe gait, Scissor gait, Clonus ORPHA:101004
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Dystonia 22, Adult-Onset
Upper limb postural tremor, Retrocollis, Babinski sign, Gait disturbance, Torticollis, Focal dyst... OMIM:620456
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia OMIM:611694
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Myoclonus, Rigidity, Ataxia, Intention tremor OMIM:618876
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spinocerebellar Ataxia, Autosomal Recessive 15
Gait ataxia, Unsteady gait, Cerebellar atrophy, Ataxia OMIM:615705
Episodic Ataxia, Type 7
Episodic ataxia OMIM:611907
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Neuhauser-Eichner-Opitz Syndrome
Spasticity, Rigidity, Hypertonia, Ataxia ORPHA:2672
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Hypogonadism, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypop... OMIM:615768
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Parkins... OMIM:619565
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spinocerebellar Ataxia, Autosomal Recessive 25
Horizontal nystagmus, Dysmetria, Babinski sign, Ataxia, Truncal ataxia OMIM:617584
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Spinocerebellar Ataxia 12
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dysto... OMIM:604326
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady... OMIM:302500
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo... ORPHA:363710
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab... ORPHA:101110
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spinocerebellar Ataxia, Autosomal Recessive 28
Truncal titubation, Cerebellar vermis hypoplasia, Gait ataxia, Abnormal pyramidal sign, Poor fine... OMIM:618800
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Epilepsy, Progressive Myoclonic 7
Myoclonus, Cerebellar atrophy, Tremor, Ataxia OMIM:616187
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Spasticity, Cerebellar atrophy, Limb ataxia, Limb dystonia, Abnormal pyramidal sign, Head titubat... OMIM:617560
Periventricular Nodular Heterotopia 8
Cerebellar vermis atrophy, Spasticity OMIM:618185
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Abnormality of eye movement, Abnormal visual fixation, Somatic sen... ORPHA:95434
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Ataxia OMIM:614706
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Atrophy/Degeneration affe... OMIM:615957
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Dystonia 23
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dysto... OMIM:614860
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... OMIM:616515
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Spinocerebellar Ataxia, Autosomal Recessive 33
Broad-based gait, Dilated fourth ventricle, Gait ataxia, Cerebellar hypoplasia, Head titubation, ... OMIM:620208
Spinocerebellar Ataxia, Autosomal Recessive 12
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Babinski sig... OMIM:614322
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Spinocerebellar Ataxia 4
Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Babinski sign, Progressive cerebel... OMIM:600223
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Spastic tetraparesis, Cerebellar atrophy, Brain atrophy OMIM:618741
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Ataxia, Choreoathetosis OMIM:125370
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasti... OMIM:610357
Dystonia 6, Torsion
Laryngeal dystonia, Limb dystonia, Myoclonus, Lingual dystonia, Torticollis, Writer's cramp, Tors... OMIM:602629
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma... ORPHA:98810
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Cerebellar atrophy, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait, Intent... OMIM:615386
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria OMIM:617770
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Limb ataxia, Babinski sign, Progressive gait ataxia, Truncal ataxia, Progress... ORPHA:101112
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment OMIM:610003
Congenital Disorder Of Glycosylation, Type Iiz
Diffuse cerebellar atrophy, Clonus, Appendicular spasticity OMIM:620201
Isolated Cerebellar Agenesis
Abnormality of eye movement, Hypertonia, Ataxia ORPHA:1398
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Nondisjunction
Decreased fertility OMIM:158250
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Cerebellar atrophy, Cerebral atrophy OMIM:611726
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Episodic Kinesigenic Dyskinesia 3
Involuntary movements, Choreoathetosis, Torticollis OMIM:620245
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait disturbance, Atrophy/De... OMIM:616230
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Difficulty walking, Head tremor, Abnormality of extrapyramidal motor function, Dyston... ORPHA:280219
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Generalized dystonia, Cerebellar vermis atrophy, Inability to walk, Lower lim... OMIM:619389
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Hemiballismus, Tremor ORPHA:494526
Dystonia 15, Myoclonic
Dystonia, Myoclonus, Writer's cramp OMIM:607488
Nescav Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Inability to walk, A... OMIM:614255
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Global brain atrophy, Cerebellar atrophy, Hypoplasia of the po... OMIM:618276
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Cerebral atrophy, Lower limb spasticity, Hypertonia, Ataxia, Upper limb spast... OMIM:613925
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Limb myoclonus, Myoclonus, Torticollis, Writer's cramp, Dystonia ORPHA:36899
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Cerebral atrophy, Inability to walk, Lower limb spasticity, Upper limb spasti... OMIM:618468
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Saccadic smooth pursuit, Limb ataxia, Gait ataxia, Nystagmus ORPHA:404499
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Spinocerebellar Ataxia Type 43
Cerebellar vermis atrophy, Limb ataxia, Cogwheel rigidity, Gait ataxia, Distal sensory impairment... ORPHA:497764
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Autosomal Recessive Spastic Paraplegia Type 27
Spastic paraplegia, Abnormality of somatosensory evoked potentials, Sensorineural hearing impairm... ORPHA:101007
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait ORPHA:284271
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, Gait ataxia,... ORPHA:512260
Polymyoclonus, Infantile
Chaotic rapid conjugate ocular movements, Myoclonus, Ataxia OMIM:263550
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro... ORPHA:464440
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a... OMIM:613728
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Gordon Holmes Syndrome
Cerebellar atrophy, Cerebral atrophy, Chorea, Primary amenorrhea, Hypogonadotropic hypogonadism, ... OMIM:212840
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spinocerebellar Ataxia 6
Impaired smooth pursuit, Vertigo, Gaze-evoked horizontal nystagmus, Dysmetria, Nystagmus, Ataxia,... OMIM:183086
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Geniospasm 1
Chin myoclonus OMIM:190100
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction ORPHA:401901
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Action tremor, Rigidity, Babinski sign, ... OMIM:300423
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... ORPHA:284324
Spastic Paraplegia 79B, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Tetrapare... OMIM:615491
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Autosomal Spastic Paraplegia Type 72
Spastic gait, Postural tremor, Impaired vibration sensation at ankles, Rigidity ORPHA:401849
Autosomal Recessive Spastic Paraplegia Type 75
Spastic paraplegia, Spasticity, Impaired vibratory sensation, Dysmetria, Babinski sign, Abnormal ... ORPHA:459056
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Impaired pain sensation, Gait ataxia, Distal sensory impairment, Abno... ORPHA:101111
Spinocerebellar Ataxia 44
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Head titubation, Abnormal pyramidal sig... ORPHA:527497
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Cerebellar atrophy, Cerebral atrophy, Positive Romberg sign, Dysmetria, Loss of ambul... OMIM:618088
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Cerebellar atrophy OMIM:615596
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Incoordination, Ba... OMIM:248900
Cataract-Ataxia-Deafness-Retardation Syndrome
Distal sensory impairment, Ataxia OMIM:212710
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Difficulty walking, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Torticol... ORPHA:98768
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... OMIM:616127
Cerebellar Ataxia, Cayman Type
Broad-based gait, Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Dystonia, Ataxia, Trunc... OMIM:601238
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Ab... OMIM:607317
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Cerebellar atrophy, Myoclonus, Gait ataxia, Tremor, Abnormality of ext... OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia OMIM:614229
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl... OMIM:607565
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, My... OMIM:256731
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Steppage gait, Impaired pain sensation, Hand tremor, Impaired distal vibration sensation OMIM:300905
Leukodystrophy, Hypomyelinating, 21
Cerebellar atrophy, Failure to thrive, Tetraparesis, Hypogonadotropic hypogonadism, Corpus callos... OMIM:619310
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Amenorrhea, Ataxia, Premature ... OMIM:619425
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Spinocerebellar Ataxia 27B, Late-Onset
Gait ataxia, Postural tremor, Limb ataxia, Cerebellar atrophy OMIM:620174
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Chorea, Paresthesia, Lower limb spasticity, Ataxia, Paroxysmal dyskinesia,... ORPHA:98811
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Sodium-Dependent Multivitamin Transporter Deficiency
Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Cerebral palsy OMIM:618973
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Cerebellar vermis atrophy, Incoordination, Gait ataxia, Dysmetria, Babinski s... OMIM:616204
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Ataxia, Lethargy, Chorea, Bradykinesia OMIM:618683
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Dysmetria, Babinski sign, Head titubation, Ataxia, Intention tremor OMIM:618688
Spinocerebellar Ataxia 14
Cerebellar atrophy, Gait ataxia, Dysmetria, Focal dystonia, Impaired vibration sensation at ankle... OMIM:605361
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Ataxia OMIM:613402
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
X-Linked Progressive Cerebellar Ataxia
Cerebellar vermis atrophy, Limb ataxia, Intention tremor, Dysmetria, Babinski sign, Progressive g... ORPHA:1175
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebral cortical atrophy, Cerebellar atrophy, ... OMIM:617225
Dystonia 22, Juvenile-Onset
Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower ... OMIM:620453
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Gait ataxia, Dysmetria, Sensorineural hearing impairment, Vestibular areflexi... ORPHA:504476
Strabismus, Susceptibility To
Microtropia, Strabismus OMIM:185100
Spinocerebellar Ataxia 49
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambulation, ... OMIM:619806
Myoclonus, Familial, 2
Dystonia, Limb myoclonus OMIM:618364
Autism
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi... OMIM:617633
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia OMIM:618387
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:136600
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Gait ataxia, Cerebellar atrophy, Slurred speech OMIM:619323
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c... OMIM:610185
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Dystonia, Clumsiness, Babinski sign, Oculom... ORPHA:453521
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Strabismus, Nystagmus, Ataxia ORPHA:2802
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hand tremor, Gait ataxia, Atroph... OMIM:617862
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Ataxia OMIM:208700
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ... ORPHA:370022
Epilepsy, Familial Adult Myoclonic, 7
Myoclonic tremor OMIM:618075
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Inferior cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Gait ataxia, Intenti... OMIM:224050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect OMIM:615041
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Neuronal loss in central nervous system, Brady... OMIM:143100
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Rigi... OMIM:618090
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Trun... OMIM:607346
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Abnormality of ocular abduction, Gaze-evoked horizontal nystagmus, Limb dysmetria, Gait ataxia, D... ORPHA:324262
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Inflexible adherence to routines, Truncal ataxia, Unsteady gait, Motor ster... OMIM:608636
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyr... OMIM:617145
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Tremor, Ankle clonus, Loss of ambulation, Babin... ORPHA:521406
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Dementia, Gait disturbance, Ataxia ORPHA:2274
Dystonia 16
Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,... ORPHA:210571
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Progressive spastic paraplegia, Babinski sign, Gait disturbance, Atrophy of t... OMIM:612020
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia OMIM:619061
Adult Neuronal Ceroid Lipofuscinosis
Mental deterioration, Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function... ORPHA:79262
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Athetosis, Chorea ORPHA:98809
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy OMIM:606053
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem... ORPHA:98763
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Abnormal cerebellum morphology, Loss of ambulation, Babinski sign, Abnormal p... OMIM:610532
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait ataxia, ... ORPHA:248111
Pontocerebellar Hypoplasia, Type 2D
Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Chorea, Appendicular spasticity,... OMIM:613811
Spinocerebellar Ataxia 50
Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Head tremor, Myoclonus, Action tremor, Pos... OMIM:620158
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Cerebral atrophy, Dysmetria, Tremor, Loss of ambulation, Lower limb spasticit... OMIM:617916
Ceroid Lipofuscinosis, Neuronal, 7
Neurodegeneration, Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:610951
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxia, Ataxia, P... OMIM:615889
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, N... OMIM:617672
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Progressive spastic paraparesis, Cerebellar atrophy, Spastic tetraparesis ORPHA:496756
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysdiadochokinesis, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Oculom... ORPHA:208513
Multiple Mitochondrial Dysfunctions Syndrome 6
Spasticity, Cerebellar atrophy, Failure to thrive, Inability to walk, Dysmetria, Atrophy/Degenera... OMIM:617954
Pelizaeus-Merzbacher Disease, Connatal Form
Difficulty walking, Inability to walk, Cerebellar hypoplasia, Dystonic gait, Lower limb spasticit... ORPHA:280210
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Parkinson... ORPHA:98759
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... OMIM:618093
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormality of eye movement, Memory impairment, Dysdiadochokinesis, Resting tremor, Impaired smoo... ORPHA:247234
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Abnormal posturing, Hemiplegia, Cho... ORPHA:225147
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral atrophy, Cerebellar atrophy, Spastic tetraplegia, Hypertonia OMIM:618730
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar vermis hypoplasia, Spasticity, Impaired vibratory sensation, Cerebellar atrophy, Parie... ORPHA:98
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Ataxia ORPHA:71518
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... OMIM:614831
Pontocerebellar Hypoplasia, Type 1E
Cerebellar hypoplasia, Myoclonus, Cerebellar atrophy, Hypoplasia of the pons OMIM:619303
Developmental And Epileptic Encephalopathy 37
Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity,... OMIM:616981
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Cerebral atrophy, Reduced sperm ... ORPHA:320391
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dyston... ORPHA:71517
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Somatic sens... ORPHA:454887
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Spasticity, Cerebellar atrophy, Dysdiadochokinesis, Dysmetria, Progressive gait ataxia, Truncal a... ORPHA:352403
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Small for gestational age, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb dystonia, Ba... OMIM:619054
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Ataxia-Tapetoretinal Degeneration Syndrome
Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Cognitive impairment, Ataxia ORPHA:1178
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea OMIM:614055
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Hand tremor, Cerebral atrop... OMIM:614409
Episodic Ataxia Type 4
Incoordination, Abnormal head movements, Frequent falls, Ataxia ORPHA:79136
Duane Retraction Syndrome 1
Duane anomaly, Strabismus, Impaired ocular abduction, Impaired convergence, Esotropia, Impaired o... OMIM:126800
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Developmental And Epileptic Encephalopathy 92
Difficulty walking, Lethargy, Inability to walk, Ataxia OMIM:617829
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Autosomal Recessive Spastic Paraplegia Type 39
Spastic paraplegia, Cerebellar atrophy, Gait ataxia, Babinski sign, Lower limb spasticity, Atroph... ORPHA:139480
Deafness-Infertility Syndrome
Azoospermia, Male infertility, Sensorineural hearing impairment ORPHA:94064
Autosomal Recessive Spastic Paraplegia Type 74
Difficulty walking, Babinski sign, Cerebellar atrophy, Progressive spastic paraplegia ORPHA:468661
Leukodystrophy, Hypomyelinating, 14
Spasticity, Cerebellar atrophy, Cerebral atrophy OMIM:617899
Intellectual Developmental Disorder, Autosomal Recessive 77
Head tremor, Unsteady gait OMIM:619988
Spastic Ataxia 9, Autosomal Recessive
Spasticity, Cerebellar vermis atrophy, Dysmetria, Hoffmann sign, Babinski sign, Abnormal pyramida... OMIM:618438
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, At... OMIM:619028
Leukodystrophy, Hypomyelinating, 11
Spasticity, Cerebellar atrophy, Failure to thrive, Myoclonus, Tremor, Ataxia OMIM:616494
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Cerebral atrophy, Inability to walk, Myoclonus, Gait ataxia, Tremor, R... OMIM:618877
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Tremor, Fasciculations OMIM:615048
Retinal Dystrophy With Leukodystrophy
Truncal titubation, Falls, Dysmetria, Waddling gait OMIM:618863
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Abnormal exteroceptive sensation, ... OMIM:205100
Autosomal Recessive Spastic Paraplegia Type 76
Abnormality of eye movement, Limb ataxia, Gait ataxia, Ankle clonus, Babinski sign, Lower limb sp... ORPHA:488594
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L... ORPHA:240094
Spastic Ataxia 3, Autosomal Recessive
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia... OMIM:611390
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Gait imbalance, Myoclonus, Ataxia, Unsteady gait, Frequent falls, Choreoathet... OMIM:301020
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga... OMIM:607483
3-Methylglutaconic Aciduria, Type Iii
Spasticity, Chorea, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia OMIM:258501
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Myoclonus, Dysm... OMIM:607136
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Cerebellar vermis atrophy, Incoordination, Dilated fourth ventricle, Limb ataxia, Gai... OMIM:213200
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Loss of ambulation, Clonus, Ataxia, Unsteady gait, Tip-toe gait,... OMIM:614877
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Leukodystrophy, Hypomyelinating, 18
Spasticity, Cerebellar atrophy, Failure to thrive, Dysmetria, Babinski sign, Atrophy/Degeneration... OMIM:618404
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Distal sensory impairment, St... OMIM:607250
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Choreoathetosis, Familial Inverted
Gait disturbance, Abnormal pyramidal sign, Progressive choreoathetosis, Rigidity OMIM:118750
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Spasticity, Cerebellar atrophy, Cerebral atrophy, Babinski sign, Waddling gait OMIM:619090
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis OMIM:617270
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Ataxia ORPHA:85338
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic a... OMIM:618369
Spinocerebellar Ataxia 28
Spasticity, Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Babinski s... OMIM:610246
Schizophrenia 15
Hyperactivity OMIM:613950
N-Acetylaspartate Deficiency
Broad-based gait, Self-mutilation, Truncal ataxia, Unsteady gait, Motor stereotypy OMIM:614063
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Spasticity, Cerebellar atrophy, Spastic tetraplegia, Ataxia OMIM:617207
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Fasciculations, Chorea, Postural tremor, Gait ataxia, Dystonia, Parkin... ORPHA:98756
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Gait disturbance ORPHA:79283
Intellectual Developmental Disorder, Autosomal Recessive 64
Spasticity, Reduced social reciprocity, Hypertonia, Slurred speech OMIM:618103
Spinocerebellar Ataxia Type 28
Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia, Babinski si... ORPHA:101109
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Limb myoclonus, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Ga... OMIM:619862
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Spastic Paraparesis-Deafness Syndrome
Spastic paraparesis, Impaired pain sensation, Hypogonadism, Hemiplegia/hemiparesis, Gait disturba... ORPHA:2815
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Spinocerebellar Ataxia Type 11
Vertical nystagmus, Jerky ocular pursuit movements, Horizontal nystagmus, Difficulty walking, Gai... ORPHA:98767
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity ORPHA:228169
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ... OMIM:600224
Cataract 11, Multiple Types
Chorea, Hypertonia OMIM:610623
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... OMIM:616795
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Juvenile Amyotrophic Lateral Sclerosis
Arm dystonia, Tip-toe gait, Amyotrophic lateral sclerosis, Difficulty walking, Inability to walk,... ORPHA:300605
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Gait disturbance, Nystagmus, Ataxia, Choreoathetosis ORPHA:67047
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Cerebellar atrophy, Abnormal cerebellum morphology, Gait ataxia, Dysmetria, T... OMIM:618056
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Diffuse cerebral atrophy, Babinski sign, Dystonia, ... ORPHA:314632
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, ... ORPHA:93952
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ... ORPHA:98764
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy, Distal sensory impairment OMIM:613710
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... ORPHA:391411
Spastic Paraplegia 85, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Impaired temperature sensat... OMIM:619686
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Incoordination, Chorea, Myoclonus, Babinski sign, Clonus, Paroxysmal cho... OMIM:500003
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Ataxia OMIM:158500
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia,... ORPHA:98772
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Global brain atrophy, Cerebellar vermis atrophy, Impaired vibration sensation... ORPHA:94124
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... OMIM:617284
Spinocerebellar Ataxia 32
Cerebellar atrophy, Azoospermia, Ataxia, Testicular atrophy, Infertility OMIM:613909
Leukodystrophy, Hypomyelinating, 2
Spastic paraparesis, Cerebral atrophy, Intention tremor, Rigidity, Babinski sign, Head titubation... OMIM:608804
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Cerebellar vermis atrophy, Inability to walk, Chorea, Gait ataxia, Dysmetria, Ataxia OMIM:618501
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Somatic sensory dysfunction, Abnormal motor evoked potential... ORPHA:320401
Friedreich Ataxia
Decreased motor nerve conduction velocity, Hearing impairment, Abnormal saccadic eye movements, C... ORPHA:95
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Tremor, Cerebellar hyp... OMIM:617810
Boucher-Neuhauser Syndrome
Spasticity, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Hypogonadotr... OMIM:215470
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Inability to walk, Delayed menarche, T... ORPHA:330050
Developmental And Epileptic Encephalopathy 44
Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Dystonia, Athetosis OMIM:617132
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Cerebellar atrophy, Difficulty walking, Neurodegeneration, Dysmetria, Ankle c... OMIM:612319
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a... ORPHA:79263
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Decreased body weight, Babinski sign, Atrophy ... ORPHA:445062
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Abnormal posturing, Incoord... ORPHA:157941
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Cerebellar atrophy, Ataxia OMIM:618879
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Fasciculations OMIM:608030
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Steppage gait, Impaired temperature sensation, Limb fasciculations, Impaired pain sensation ORPHA:99940
Spastic Paraplegia 75, Autosomal Recessive
Spasticity, Spastic paraparesis, Cerebellar atrophy, Dysmetria, Loss of ambulation, Babinski sign... OMIM:616680
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Leukoencephalopathy, Cystic, Without Megalencephaly
Spasticity, Ataxia, Abnormal CNS myelination, Dystonia, Athetosis OMIM:612951
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ... ORPHA:139485
Ataxia-Telangiectasia-Like Disorder
Cerebellar vermis hypoplasia, Cerebellar atrophy, Dilated fourth ventricle, Chorea, Myoclonus, Ga... ORPHA:251347
Infantile Cerebellar-Retinal Degeneration
Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Decreased body weight, Ataxia, ... OMIM:614559
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar ataxia ORPHA:276183
Sandhoff Disease, Juvenile Form
Cerebellar atrophy, Acroparesthesia, Failure to thrive, Fasciculations, Incoordination, Cerebral ... ORPHA:309162
Behr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance... OMIM:210000
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Difficulty walking, Babinski sign, Lower limb spasticity, Limb tr... ORPHA:401820
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Tetraplegia, Ataxia, Dystonia, Episodic quadriplegia, Choreoathetosis OMIM:614820
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... ORPHA:1170
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor OMIM:613608
Spastic Ataxia-Corneal Dystrophy Syndrome
Hemiplegia/hemiparesis, Spastic ataxia, Aplasia/Hypoplasia of the cerebellum, Gait disturbance, A... ORPHA:2572
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d... OMIM:213600
Pontocerebellar Hypoplasia, Type 2C
Chorea OMIM:612390
Developmental And Epileptic Encephalopathy 17
Inability to walk, Chorea, Delayed CNS myelination, Dystonia, Athetosis OMIM:615473
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Chorea, Abnormality of extrapyramidal motor function, Ataxia, Progressiv... ORPHA:382
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Spinocerebellar Ataxia 34
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait atax... OMIM:133190
Roussy-Lévy Syndrome
Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Difficulty wa... ORPHA:3115
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar vermis, Truncal ataxia, Ag... OMIM:220200
Camos Syndrome
Spasticity, Aplasia/Hypoplasia of the cerebellum, Ataxia, Progressive extrapyramidal movement dis... ORPHA:83472
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Ataxia ORPHA:622
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Impaired vibration sensation in the lower limbs, Positive Romberg sign, Gait ... ORPHA:88628
Infantile Convulsions And Choreoathetosis
Involuntary movements, Chorea, Athetosis, Paroxysmal dyskinesia, Choreoathetosis ORPHA:31709
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Myoclonus, Cerebellar hypoplasia, Atrophy/Degeneration affecting the brainste... OMIM:619971
Parkinsonism-Dystonia 3, Childhood-Onset
Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ... OMIM:619738
Developmental And Epileptic Encephalopathy 69
Inability to walk, Myoclonus, Hyperkinetic movements, Dystonia, Spastic tetraplegia OMIM:618285
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Limb dystonia, Torticollis, Or... ORPHA:420485
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Abnormality of extrapyramidal motor function, Ataxia, Dystonia, Athetosis OMIM:615159
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Global brain atrophy, Generalized dystonia, Inability to wa... OMIM:312080
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormal cerebellum morphology, Myoclonus, Abnormality of extrapyramidal motor function, Parkinso... OMIM:162350
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Myoclonus, Dysmetria, Ataxia OMIM:619191
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Spastic paraplegia, Tongue fasciculations, Limb fasciculations, Babinski sign, Gait disturbance, ... ORPHA:329475
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Myoclonus, Dysmetria, Head titubation, Ataxia, Truncal ataxia, Dystonia OMIM:250620
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Gait ataxia, Cerebellar atrophy, Ataxia OMIM:617915
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Cerebellar atrophy, Abnormal posturing, Generalized dystonia, Inability to walk, T... OMIM:128100
Spinocerebellar Ataxia 13
Spasticity, Cerebellar atrophy, Limb ataxia, Limb dysmetria, Myoclonus, Gait ataxia, Abnormal pyr... OMIM:605259
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Distal sensory impairment, D... OMIM:159550
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Bruxism, Inappropriate laughter, Chorea, Aggressive behavior, Ataxia, Motor stereotypy OMIM:619150
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Developmental And Epileptic Encephalopathy 11
Hyperkinetic movements, Spastic tetraplegia OMIM:613721
Alexander Disease Type I
Spasticity, Cerebellar atrophy, Failure to thrive, Cachexia, Abnormal pyramidal sign, Hydrocephal... ORPHA:363717
Autosomal Recessive Spastic Paraplegia Type 78
Cerebral cortical atrophy, Cerebellar atrophy, Progressive spastic paraplegia, Difficulty walking... ORPHA:513436
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Failure to thrive, Tetraparesis, An... OMIM:620546
Spastic Paraplegia 7, Autosomal Recessive
Spastic paraplegia, Cerebral cortical atrophy, Cerebellar atrophy, Upper limb hypertonia, Lower l... OMIM:607259
Facial Onset Sensory And Motor Neuronopathy
Fasciculations ORPHA:85162
Microlissencephaly
Cerebral cortical atrophy, Cerebellar atrophy, Hypertonia ORPHA:1083
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Cogwheel ... OMIM:600116
Perrault Syndrome 1
Cerebellar atrophy, Gait ataxia, Primary amenorrhea, Ataxia, Intention tremor, Spastic diplegia OMIM:233400
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Impaired vibratory sensation, Postural tremor, Babinski sign, Gait disturbanc... ORPHA:100988
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Leukodystrophy, Hypomyelinating, 4
Spastic paraplegia, Babinski sign, Head titubation, Progressive spasticity, Choreoathetosis OMIM:612233
Episodic Ataxia Type 6
Hemiplegia, Cerebellar atrophy, Slurred speech, Ataxia ORPHA:209967
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Alternating Hemiplegia Of Childhood 1
Dystonia, Episodic quadriplegia, Choreoathetosis, Episodic hemiplegia OMIM:104290
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Gait at... OMIM:616719
Developmental And Epileptic Encephalopathy 67
Dystonia, Gait disturbance, Cerebellar atrophy, Athetosis OMIM:618141
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Babinski si... ORPHA:254343
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Tremor, Ankle clonus... OMIM:617435
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Diffuse cerebellar atrophy, Broad-based gait, Difficulty walking, Progressive truncal ataxia, Dys... ORPHA:363429
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive gait ataxia, Abnormal pyramidal sign, Truncal a... ORPHA:247815
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia OMIM:612016
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia OMIM:128235
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Gait ataxia, Intention tremor, Lower limb spasticity, Sensory ataxia OMIM:620221
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Dysdiadochokinesis, Chorea, Gait ataxia, Dysmetria, Dystonia, Lower limb spas... OMIM:604391
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Cerebellar hypoplasia, Cognitive impairment, Ataxia ORPHA:2246
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Hand tremor ORPHA:86814
Congenital Disorder Of Glycosylation, Type Iii
Cerebellar atrophy, Cerebral atrophy, Neurogenic bladder, Atrophy/Degeneration affecting the brai... OMIM:613612
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebral atrophy, Gait ataxia, Cerebellar atrophy, Dysmetria ORPHA:320385
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Distal sensory... OMIM:302800
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebellar ... ORPHA:98760
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Impaired... ORPHA:137898
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Dystonia, Loss of ambulation, Parkinso... OMIM:615528
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebral cortical atrophy, Cerebellar atrophy, Chorea, Cerebellar hypoplasia, Dystonia, Athetosis... OMIM:619922
Hereditary Methemoglobinemia
Spasticity, Small for gestational age, Cerebellar atrophy, Temporal cortical atrophy, Global brai... ORPHA:621
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Lethargy, Choreoathetosis, Ataxia OMIM:606777
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Paroxysmal d... ORPHA:53583
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Difficulty walking, Babinski sign, Hoffmann sign, Fasciculations OMIM:620402
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Spastic ataxia, Oculom... OMIM:614487
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Postural tremor, Li... OMIM:183090
Huntington Disease-Like 3
Spasticity, Broad-based gait, Abnormal head movements, Extrapyramidal muscular rigidity, Chorea, ... ORPHA:157946
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Loss of ambulation, Babinsk... OMIM:271245
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Shuffling gait, Leukodystrophy, Gait ataxia, Intention tremor, Dysmetria, Abnor... OMIM:617964
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Torticollis OMIM:118800
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Ataxia OMIM:260970
Mepan Syndrome
Spasticity, Hemidystonia, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Chorea, Myoclo... ORPHA:508093
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia... OMIM:615157
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower l... OMIM:618598
Spastic Ataxia 4, Autosomal Recessive
Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sign, Spastic atax... OMIM:613672
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebellar atrophy, Hemiplegia, Myoclonus, Hemiparesis, Abnormality of extrapyramidal mot... ORPHA:352596
Spinocerebellar Ataxia, Autosomal Recessive 8
Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramida... OMIM:610743
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:618709
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Progressive spastic paraplegia, Diffic... ORPHA:280763
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Hyperkinetic mov... OMIM:617493
Huntington Disease-Like 2
Involuntary movements, Chorea, Parkinsonism ORPHA:98934
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Spasticity, Somatic sensory dysfunction, Cerebellar vermis atrophy, Paresthesia, Gait ataxia, Fre... ORPHA:466794
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Paroxysmal dyskinesia,... OMIM:606703
Episodic Ataxia, Type 6
Cerebellar atrophy, Episodic ataxia, Hemiplegia, Hemiparesis, Cerebellar hypoplasia, Truncal atax... OMIM:612656
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
Gerstmann-Straussler-Scheinker Syndrome
Mental deterioration, Acroparesthesia, Limb myoclonus, Paresthesia, Gait ataxia, Abnormal cerebel... ORPHA:356
Fragile X Tremor/Ataxia Syndrome
Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Postural tremor, Gait ataxia, A... OMIM:300623
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Inability to walk, Myoclonus, Rigidity, Loss of ambulation, Gait disturbance,... OMIM:618241
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Difficulty walking, Positive Rom... OMIM:616479
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Postural tremor, Dysmetria, Tremor, Lo... OMIM:607694
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Spasticity, Global brain atrophy, Episodic ataxia, Difficulty walking, Gait ataxia, Lower limb sp... OMIM:614458
Leukodystrophy, Hypomyelinating, 15
Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Loss of ambulation, Abnormal... OMIM:617951
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Cerebellar atrophy, Fasciculations, Limb ataxia, Dysmetria, Ankle ... ORPHA:284289
Episodic Kinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Paroxysmal dystonia OMIM:128200
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand... ORPHA:53351
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Temporal cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Cerebellar hypoplasia, Fr... ORPHA:137831
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Cerebral cortical atrophy, Spasticity, Gait ataxia, Dysmetria, Cerebellar hypoplasia, Spastic ata... ORPHA:314603
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Basal Ganglia Calcification, Idiopathic, 5
Hand tremor, Postural tremor, Chorea, Parkinsonism, Cerebellar calcifications, Athetosis OMIM:615483
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Chorea, Gait ataxia, Dystonia OMIM:618917
Intellectual Developmental Disorder, Autosomal Recessive 69
Cerebellar hypoplasia, Spasticity, Ataxia OMIM:618383
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Limb ataxia, Dysmetric saccades, Babinski sign, Supranuclear gaze palsy, Gait... OMIM:618418
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Choreoathetos... ORPHA:71277
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ... OMIM:208920
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal... ORPHA:98773
Spinocerebellar Ataxia 8
Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cere... OMIM:608768
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Cerebellar hypoplasia,... ORPHA:313772
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Dysmetria, Parkinsonism, Abnormal pyramidal sign, Ataxia, Hypoesthesia, Bradykinesia, Slu... OMIM:618317
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Abnormal pyramidal sign, Tetraplegia, Dy... OMIM:300475
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Impaired dist... ORPHA:276435
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Allan-Herndon-Dudley Syndrome
Spastic paraplegia, Leukodystrophy, Inability to walk, Babinski sign, Delayed CNS myelination, Cl... OMIM:300523
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon... ORPHA:99027
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Distal sensory impairment, Dysmetria, Oculomotor apraxia, Ataxia, Frequent falls OMIM:615217
Huntington Disease-Like 1
Incoordination, Chorea, Dysmetria, Rigidity OMIM:603218
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Oculogyric crisis, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Chorea, M... OMIM:614254
Spastic Paraplegia 5A, Autosomal Recessive
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Postural tremor, Limb dysmet... OMIM:270800
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Myoclonus, Hand tremor, Writer's cramp OMIM:608105
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia OMIM:614018
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Cerebellar atrophy, Obesity, Oculomotor apraxia, Abnormal pyramidal... OMIM:616267
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Inability to walk, Cerebellar atrophy, Appendicular spasticity OMIM:618324
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Gait ataxia, Cerebellar atrophy ORPHA:438134
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Fatty Acyl-Coa Reductase 1 Deficiency
Inability to walk, Spastic tetraparesis, Cerebellar atrophy, Dandy-Walker malformation ORPHA:438178
Central Neurocytoma
Pain insensitivity, Depression, Paresthesia, Lethargy, Ataxia ORPHA:73256
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li... OMIM:612067
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:240103
Spastic Paraplegia Type 7
Cerebral cortical atrophy, Cerebellar atrophy, Somatic sensory dysfunction, Impaired vibration se... ORPHA:99013
Leukodystrophy, Hypomyelinating, 6
Spasticity, Cerebellar atrophy, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoath... OMIM:612438
Methylmalonic Acidemia With Homocystinuria
Lethargy, Gait disturbance ORPHA:26
Spinocerebellar Ataxia 25
Cerebellar atrophy, Impaired pain sensation, Babinski sign, Oculomotor apraxia, Ataxia, Abolished... OMIM:608703
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Ataxia, Unsteady gait ORPHA:2585
Lethal Congenital Contracture Syndrome 7
Paralysis, Cerebellar atrophy, Cerebral atrophy OMIM:616286
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal sensory impairment, Tremor OMIM:614369
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Delayed CNS myelination, Chorea, Athetosis, Choreoathetosis OMIM:309541
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Inability to walk, Spasticity, Cerebellar atrophy OMIM:617086
4H Leukodystrophy
Cerebellar atrophy, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive ... ORPHA:289494
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Somatic sensory dysfunction, Hand tremor, Impaired pain sensation, ... ORPHA:99947
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Myoclonus, Tremor OMIM:615400
Congenital Disorder Of Glycosylation, Type Iin
Cerebellar vermis atrophy, Cerebellar atrophy, Inability to walk, Cerebral atrophy OMIM:616721
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Distal sensory im... OMIM:601382
Combined Saposin Deficiency
Hyperkinetic movements, Babinski sign, Myoclonus, Fasciculations OMIM:611721
Progressive Myoclonic Epilepsy Type 3
Cerebellar atrophy, Limb myoclonus, Cerebral atrophy, Progressive truncal ataxia, Myoclonus, Chin... ORPHA:263516
Familial Paroxysmal Ataxia
Cerebellar vermis atrophy, Hemiplegia, Torticollis, Ataxia, Dystonia ORPHA:97
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Gait disturbance, Cerebellar atrophy, Ataxia ORPHA:85317
Spinocerebellar Ataxia Type 36
Loss of Purkinje cells in the cerebellar vermis, Tongue fasciculations, Limb myoclonus, Hand trem... ORPHA:276198
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Head tremor, Myoclonus, Axial ... ORPHA:420492
Cognitive Impairment With Or Without Cerebellar Ataxia
Gait ataxia, Cerebellar atrophy, Dysmetria, Ataxia OMIM:614306
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Hypoplasia of the pons, Ethmoidal encephalocele, Rhombencephalosyna... ORPHA:280195
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Tremor, Ataxia ORPHA:101075
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Spasticity, Generalized dystonia, Inability to walk, Dystonia, Opisthotonus, Parkinsonism, Apraxi... OMIM:619653
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Progressive cerebellar ataxia, Cerebellar atroph... ORPHA:98755
Basal Ganglia Calcification, Idiopathic, 6
Involuntary movements, Choreoathetosis, Parkinsonism OMIM:616413
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Broad-based gait, Cerebellar atrophy, Dysmetria, Ataxia OMIM:618098
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Ataxia OMIM:618224
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, Agitation OMIM:617171
Spinocerebellar Ataxia Type 10
Cerebellar atrophy, Gait imbalance, Gait ataxia, Intention tremor, Dysmetria, Babinski sign, Kine... ORPHA:98761
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Spasticity, Cerebellar atrophy, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Cerebellar hy... ORPHA:529665
Caribbean Parkinsonism
Cerebral cortical atrophy, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia,... ORPHA:97355
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Tremor, Rigidity, Parkinsonism, Bradyk... ORPHA:329284
Dystonia 37, Early-Onset, With Striatal Lesions
Generalized dystonia, Chorea, Leg dystonia, Loss of ambulation, Oculomotor apraxia, Ataxia, Chore... OMIM:620427
Striatonigral Degeneration, Infantile
Dystonia, Spasticity, Choreoathetosis OMIM:271930
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Cerebellar atrophy, Dysmetria, Ataxia OMIM:618384
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia OMIM:618587
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar hypoplasia, Gait ataxia, Gait imbalance, Cerebellar atrophy ORPHA:488635
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
Spinocerebellar Ataxia 21
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Akinesia, Abnor... OMIM:607454
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxia, Distal sensory... OMIM:603516
Oculocerebral Syndrome With Hypopigmentation
Spasticity, Athetosis OMIM:257800
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Steppage gait, Distal sensory impairment, Fasciculations OMIM:606595
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower... OMIM:600363
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Unsteady gait, Cerebellar atrophy, Ataxia OMIM:300861
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Poor coordination, Action tremor, Ataxia OMIM:617665
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Difficulty walking, Fasciculations OMIM:615575
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Parkinsonism, Ab... ORPHA:216873
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Gait ataxia, Action tremor, Distal sensory impairment OMIM:180800
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypoplasia of the pons, Difficulty walking, Speech apraxia, Head tremor, Unsteady gait, Parietal ... ORPHA:412057
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Spinocerebellar Ataxia Type 42
Upper limb postural tremor, Cerebellar atrophy, Resting tremor, Cerebellar vermis atrophy, Head t... ORPHA:458803
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Autism, Susceptibility To, 20
Reduced social reciprocity OMIM:618830
Amyotrophic Lateral Sclerosis 28
Difficulty walking, Babinski sign, Chaddock reflex, Fasciculations OMIM:620452
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Failure to thrive, Myoclonus, Intention tremor, Dysmetria, Babinski sign, Hyp... OMIM:618356
Usher Syndrome
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus, Cognitive impairment, N... ORPHA:886
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Cerebral atrophy, Inability to walk, Gait ataxia, Clumsiness, Ataxia, Unstead... ORPHA:1947
Developmental And Epileptic Encephalopathy 58
Inability to walk, Motor stereotypy OMIM:617830
Developmental And Epileptic Encephalopathy 97
Inability to walk, Tremor OMIM:619561
Peroxisome Biogenesis Disorder 6B
Impaired vibratory sensation, Cerebellar atrophy, Delayed menarche, Limb ataxia, Gait ataxia, Dis... OMIM:614871
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Spasticity, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Babinski sign, Ataxia, Inte... OMIM:612674
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Tremor, Rigidity, Distal sensory impairment,... OMIM:606693
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Impaired pain sensation, Tremor, Ataxia ORPHA:101078
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsoni... OMIM:137440
Autosomal Recessive Progressive External Ophthalmoplegia
Shuffling gait, Cerebellar atrophy, Cerebral atrophy, Paresthesia, Cogwheel rigidity, Action trem... ORPHA:254886
Folinic Acid-Responsive Seizures
Broad-based gait, Frontotemporal cerebral atrophy, Cerebellar atrophy, Difficulty walking, Chorea... ORPHA:79097
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Dystonia 34, Myoclonic
Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia OMIM:619724
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Falls, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abno... ORPHA:13
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Spinocerebellar Ataxia 36
Tongue fasciculations, Cerebellar atrophy, Fasciculations, Incoordination, Limb ataxia, Gait atax... OMIM:614153
Wernicke-Korsakoff Syndrome
Delirium, Confusion, Memory impairment, Ataxia OMIM:277730
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... ORPHA:101
Mitochondrial Dna Depletion Syndrome 17
Cerebellar atrophy, Cerebral atrophy, Chorea, Spastic tetraparesis, Hemiballismus OMIM:618567
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Paroxysmal dyskinesia ORPHA:79137
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired proprioception, Clumsiness, Gait d... OMIM:277460
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tongue fasciculations, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Dysmetria... OMIM:618170
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Spasticity, Postural tremor, Positive Romberg sign, Distal sensory impairment, Babinski sign, Gai... OMIM:616668
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea OMIM:607674
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Involuntary movements, Spasticity, Limb hypertonia, Ataxia, Dystonia, Delayed myelination, Choreo... OMIM:615905
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Tongue fasciculations, Fasciculations OMIM:613435
Developmental And Epileptic Encephalopathy 98
Cerebellar atrophy, Cerebral atrophy OMIM:619605
Spastic Paraplegia 17, Autosomal Dominant
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Postural tremor, Babinski si... OMIM:270685
Dystonia 26, Myoclonic
Blepharospasm, Laryngeal dystonia, Myoclonus, Torticollis, Dystonia OMIM:616398
Developmental And Epileptic Encephalopathy 40
Lethargy, Choreoathetosis OMIM:617065
Hypermanganesemia With Dystonia 2
Spasticity, Cerebellar atrophy, Tip-toe gait, Generalized dystonia, Cerebral atrophy, Inability t... OMIM:617013
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Akinesia, Tremor, R... OMIM:300894
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Spasticity, Cerebral atrophy, Cerebellar vermis atrophy, Spastic tetraparesis, Dandy-Walker malfo... OMIM:616154
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, Inability to walk, Limb ataxia, Gait disturbance, Ataxia OMIM:617166
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Myoclonus, Babinski sign, A... OMIM:620538
Autosomal Dominant Spastic Paraplegia Type 19
Male sexual dysfunction, Female sexual dysfunction, Progressive spastic paraplegia, Difficulty wa... ORPHA:100999
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, Parkinsonism, ... OMIM:619911
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Decreased circulating free T4 concentration, Diminished ability to concen... OMIM:301033
Christianson Syndrome
Cerebral cortical atrophy, Cerebellar atrophy, Gait ataxia, Cachexia, Aplasia/Hypoplasia of the c... ORPHA:85278
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Tetraparesis, Cogwheel rigidity, Myoclonus, Gait ataxia, Rigidity, Loss of ambulation... ORPHA:225154
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Myoclonus, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Babinsk... OMIM:616505
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Generalized dystonia, Postural tremor, Myoclonus, Gait ataxia, Limb dystonia, ... ORPHA:101150
Diaminopentanuria
Neurodegeneration, Spasticity, Ataxia OMIM:222350
Valinemia
Hyperkinetic movements OMIM:277100
Spastic Paraplegia 76, Autosomal Recessive
Spastic paraplegia, Difficulty walking, Gait ataxia, Dysmetria, Distal sensory impairment, Babins... OMIM:616907
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Gait ataxia, Myoclonus, Hemiparesis OMIM:123400
Autosomal Recessive Spastic Paraplegia Type 48
Broad-based gait, Progressive spastic paraplegia, Myoclonus, Parkinsonism, Lower limb spasticity,... ORPHA:306511
Leukodystrophy, Hypomyelinating, 17
Inability to walk, Cerebellar atrophy, Cerebral atrophy OMIM:618006
Salla Disease
Inability to walk, Spasticity, Athetosis, Ataxia OMIM:604369
Early-Onset X-Linked Optic Atrophy
Gait ataxia, Intention tremor, Babinski sign, Dysdiadochokinesis, Choreoathetosis ORPHA:98890
Ceroid Lipofuscinosis, Neuronal, 10
Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment,... OMIM:610127
L-2-Hydroxyglutaric Aciduria
Global brain atrophy, Cerebellar atrophy, Abnormality of extrapyramidal motor function, Abnormal ... OMIM:236792
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Abnormal posturing, Generalized dystonia, Inability to walk, Opisthoton... ORPHA:216866
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Developmental And Epileptic Encephalopathy 5
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Atrophy/Degeneration affecting t... OMIM:613477
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebellar atrophy, Cerebral atrophy, Limb hypertonia, Dystonia, Choreoathetosis OMIM:618247
Manganese Poisoning
Decreased male libido, Postural tremor, Akinesia, Cogwheel rigidity, Decreased female libido, Abn... ORPHA:306682
Schimke Syndrome
Spasticity, Choreoathetosis OMIM:312840
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Nystagmus, Ataxia ORPHA:3350
Baker-Gordon Syndrome
Involuntary movements, Inability to walk, Hyperkinetic movements, Ataxia, Dystonia, Athetoid cere... OMIM:618218
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Difficulty walking, Abnormal cerebel... OMIM:275900
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Self-injurious behavior, Chorea, Inability to walk, Stereotypical hand wringing OMIM:618760
Leukodystrophy, Hypomyelinating, 20
Cerebellar atrophy, Babinski sign, Hypertonia, Torticollis, Spastic tetraplegia OMIM:619071
Autosomal Recessive Spastic Paraplegia Type 57
Spastic paraplegia, Spasticity, Inability to walk, Babinski sign, Abnormal myelination ORPHA:431329
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Spasticity, Arm dystonia, Cerebellar atrophy, Fasciculations, Dysme... ORPHA:88644
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Spasticity, Head tremor, Impaired vibration sensation in the lower limbs, Gait ataxia, Impaired p... ORPHA:352641
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Action myoclonus, Myoclonus, Frequent falls OMIM:616540
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Cerebellar atrophy, Spastic tetraplegia, Failure to thrive OMIM:618237
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Cerebellar atrophy, Myoclonus, Dysmetria, Abnormal pyramidal sign, Neuroge... OMIM:619780
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Intention tremor, Dysmetr... OMIM:614381
Spastic Ataxia, Charlevoix-Saguenay Type
Loss of Purkinje cells in the cerebellar vermis, Spasticity, Falls, Cerebellar vermis atrophy, Pr... OMIM:270550
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Clumsiness, Eyelid myoc... ORPHA:2590
2,4-Dienoyl-Coa Reductase Deficiency
Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Incoordination, Clonus, Tetr... OMIM:616034
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal choreoathetosis, Paroxysmal dystonia OMIM:602066
Autosomal Recessive Spastic Paraplegia Type 69
Spastic dysarthria, Progressive spastic paraplegia, Hand tremor, Lower limb spasticity, Abnormal ... ORPHA:401830
Machado-Joseph Disease Type 1
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Dilated fourth ventricle, Abnormali... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Dilated fourth ventricle, Abnormali... ORPHA:276241
Spastic Paraplegia 86, Autosomal Recessive
Spastic paraplegia, Inability to walk, Babinski sign, Ataxia, Choreoathetosis OMIM:619735
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Difficulty walking, Peripheral demyelination, Positive Romberg sign,... ORPHA:206594
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations OMIM:271200
Developmental And Epileptic Encephalopathy 65
Spasticity, Cerebellar atrophy, Cerebral atrophy OMIM:618008
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Facial-lingual fasciculations, Fasc... OMIM:109150
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy, Inability to walk OMIM:617820
Pontine Tegmental Cap Dysplasia
Dysmetria, Ankle clonus, Head titubation, Oculomotor apraxia, Pontine tegmental cap, Ataxia OMIM:614688
Leukoencephalopathy With Vanishing White Matter 1
Lethargy, Gait disturbance, Primary amenorrhea, Premature ovarian insufficiency, Unsteady gait, S... OMIM:603896
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination, Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Leber Hereditary Optic Neuropathy
Postural tremor, Ataxia ORPHA:104
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Spasticity, Cerebellar atrophy, Failure to thrive, Inability to walk, Abnormality of extrapyramid... OMIM:614739
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Head titubation ORPHA:3240
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Cerebellar vermis atrophy, Head tremor, Gait imbalance, Postural tre... ORPHA:64753
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperkinetic movements, Cerebellar atrophy, Ataxia OMIM:271980
Episodic Ataxia Type 1
Cerebellar atrophy, Tip-toe gait, Clumsiness, Hypertonia, Poor coordination, Choreoathetosis ORPHA:37612
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Myoclonus, Ataxia OMIM:545000
Myoclonus, Intractable, Neonatal
Delayed CNS myelination, Chorea, Athetosis, Myoclonus OMIM:617235
Marinesco-Sjogren Syndrome
Spasticity, Cerebellar atrophy, Failure to thrive, Limb ataxia, Gait ataxia, Ataxia, Cerebellar c... OMIM:248800
Leber Optic Atrophy And Dystonia
Spasticity, Bradykinesia, Upper motor neuron dysfunction, Dystonia, Athetosis OMIM:500001
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Paresthesia, Posi... OMIM:601098
Spastic Paraplegia 10, Autosomal Dominant
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Distal sensory impairment, A... OMIM:604187
Tremor-Ataxia-Central Hypomyelination Syndrome
Cerebral cortical atrophy, Spasticity, Impaired vibration sensation in the lower limbs, Postural ... ORPHA:447896
Infantile Dystonia-Parkinsonism
Cerebral palsy, Chorea, Parkinsonism, Abnormal pyramidal sign, Limb hypertonia, Hypertonia, Brady... ORPHA:238455
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity OMIM:619470
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor OMIM:617863
Gillespie Syndrome
Cerebellar atrophy, Postural tremor, Cerebellar hypoplasia, Ataxia, Slurred speech OMIM:206700
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Waddling gait OMIM:616269
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Fasciculations, Distal sensory impairment, Steppage gait, Impaired distal vibration... OMIM:614436
Trichothiodystrophy 8, Nonphotosensitive
Spasticity, Ankle clonus, Babinski sign, Craniofacial dystonia, Head titubation, Spastic diplegia OMIM:619691
X-Linked Charcot-Marie-Tooth Disease Type 6
Hand tremor, Difficulty walking, Impaired vibration sensation in the lower limbs, Distal sensory ... ORPHA:352675
Spastic Paraplegia 70, Autosomal Recessive
Spasticity, Ankle clonus, Fasciculations OMIM:620323
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity OMIM:606438
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Fasciculations, Incoordination, Difficulty walking, Gait ataxia, Distal sensory impairment, Impai... OMIM:616688
Autosomal Dominant Spastic Paraplegia Type 9B
Focal dystonia, Postural tremor, Upper motor neuron dysfunction, Loss of ambulation, Babinski sig... ORPHA:447757
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Dystonia, Athetosis, Amyotrophic lateral sclerosis OMIM:300857
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Freezin... ORPHA:99750
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism, Ataxia ORPHA:88637
Dystonia 7, Torsion
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... OMIM:602124
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Babinski sign, Atrophy/Degeneration affecting ... OMIM:616192
Developmental Delay With Or Without Epilepsy
Spasticity, Cerebellar atrophy, Ataxia, Spastic gait, Lower limb hypertonia OMIM:620540
Kaya-Barakat-Masson Syndrome
Spasticity, Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy OMIM:619125
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Difficulty walking, Paralysis OMIM:608634
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat... ORPHA:726
Perioral Myoclonia With Absences
Chin myoclonus, Falls ORPHA:139426
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... OMIM:618049
Infantile-Onset Spinocerebellar Ataxia
Ophthalmoplegia, Ataxia ORPHA:1186
Developmental And Epileptic Encephalopathy 27
Myoclonus, Spasticity, Chorea OMIM:616139
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Dystonia, Spasticity, Choreoathetosis OMIM:614249
Joubert Syndrome 31
Duane anomaly, Strabismus, Oculomotor apraxia, Nystagmus, Truncal ataxia OMIM:617761
Dystonia 9
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Choreoathetosis OMIM:601042
Myoclonic Epilepsy, Familial Infantile
Impaired tandem gait, Limb ataxia, Gait ataxia, Ataxia OMIM:605021
Ravine Syndrome
Spasticity, Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Spasticity, Involuntary movements, Chorea, Myoclonus, Rigidity, Loss of ambulation... OMIM:617282
Pontocerebellar Hypoplasia, Type 6
Cerebellar vermis hypoplasia, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral... OMIM:611523
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Glutathione Synthetase Deficiency
Spastic tetraparesis, Intention tremor, Ataxia OMIM:266130
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Ataxia ORPHA:2579
Machado-Joseph Disease Type 3
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Dilated fourth ventricle, Abnormali... ORPHA:276244
Brunet-Wagner Neurodevelopmental Syndrome
Cerebellar atrophy, Cerebral atrophy OMIM:619690
Episodic Ataxia, Type 2
Episodic ataxia, Cerebellar vermis atrophy, Paresthesia, Dystonia, Progressive cerebellar ataxia OMIM:108500
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Failure to thrive, Babinski sign, Ataxia, Dystonia, Brain atrophy OMIM:618226
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apr... OMIM:602481
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:620482
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Cerebellar atrophy, Babinski sign, Clonus, Dystonia, Progressive cerebellar ataxia OMIM:618868
Leukodystrophy, Hypomyelinating, 9
Cerebral atrophy, Pseudobulbar paralysis, Dysmetria, Abnormality of extrapyramidal motor function... OMIM:616140
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Spasticity, Global brain atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Loss o... OMIM:615838
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Cerebellar atrophy, Generalized dystonia, Neurodegeneration, Tremor, Abnormality of e... OMIM:614298
Ceroid Lipofuscinosis, Neuronal, 2
Myoclonus, Ataxia OMIM:204500
Huppke-Brendel Syndrome
Inability to walk, Cerebellar atrophy, Cerebral atrophy OMIM:614482
Autosomal Dominant Spastic Paraplegia Type 17
Spastic gait, Babinski sign, Postural tremor, Distal sensory impairment ORPHA:100998
X-Linked Spinocerebellar Ataxia Type 3
Esotropia, Ataxia ORPHA:85297
Liang-Wang Syndrome
Dystonia, Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:618729
Developmental And Epileptic Encephalopathy 74
Delayed CNS myelination, Choreoathetosis OMIM:618396
Aminoacylase 1 Deficiency
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy OMIM:609924
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Babinski sign, Ataxia, Dystonia, Spastic diplegia OMIM:619065
Cach Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Limb ataxia, Dysmetr... ORPHA:135
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Truncal ataxia, Dystonia, Head titubation ORPHA:88639
Joubert Syndrome 24
Spasticity, Dysmetria, Cerebellar hypoplasia, Gait disturbance, Ataxia OMIM:616654
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Myoclonus OMIM:618357
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral cortical atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Corpus callosum atrophy, ... ORPHA:369939
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Tip-toe gait, Difficulty walking, Cerebellar cyst, Frequent falls ORPHA:370980
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Abnormality of extrapyramidal motor function, Myoclonus, Ataxia OMIM:204300
Episodic Ataxia Type 3
Hemiplegia, Nystagmus, Episodic ataxia ORPHA:79135
Harel-Yoon Syndrome
Spasticity, Cerebellar atrophy, Inability to walk, Ataxia, Dystonia OMIM:617183
Fatty Acid Hydroxylase-Associated Neurodegeneration
Falls, Cerebellar atrophy, Progressive spastic paraplegia, Progressive spastic paraparesis, Cereb... ORPHA:329308
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Slurred speech, Ataxia ORPHA:972
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Rigidity, Chiari type I malformation, Dystonia, Ataxia, Bradykinesia OMIM:617836
Hengel-Maroofian-Schols Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Gait imbalance, Tetraplegia,... OMIM:619641
Developmental And Epileptic Encephalopathy 51
Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Inability to walk, Babinski sig... OMIM:617339
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar hemisphere hypoplasia, Hypertonia OMIM:615095
Galloway-Mowat Syndrome 2, X-Linked
Cerebral atrophy, Spasticity, Cerebellar atrophy, Dysmetria OMIM:301006
Brachydactyly-Nystagmus-Cerebellar Ataxia
Strabismus, Nystagmus, Ataxia OMIM:113400
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Stxbp1-Related Encephalopathy
Spasticity, Inability to walk, Tremor, Ataxia, Dystonia, Spastic tetraplegia ORPHA:599373
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Pontocerebellar atrophy, Tremor, Cerebellar hypoplasia, Abnormal pyramidal sign, ... OMIM:618060
Hsd10 Disease
Spastic paraparesis, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Choreoathetosis ORPHA:391417
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Spasticity, Abnormal amplitude of pattern reversal visual evoked potentials, Abnor... OMIM:125250
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Babinski sign, Limb hypertonia, Ataxia, Spastic tetraplegia OMIM:612936
Spinocerebellar Ataxia 47
Spasticity, Cerebellar vermis atrophy, Chorea, Dysmetria, Ataxia OMIM:617931
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Limb ataxia, Gait ataxia, Clumsiness, Babinski sign, Gait disturbance, Ataxia... OMIM:619259
Proximal Myopathy With Extrapyramidal Signs
Involuntary movements, Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Atax... ORPHA:401768
Congenital Disorder Of Glycosylation, Type Iih
Failure to thrive in infancy, Cerebellar atrophy, Ataxia OMIM:611182
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait ORPHA:209335
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Spastic paraparesis, Acroparesthesia,... ORPHA:206443
Meckel Syndrome 13
Cerebellar hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:617562
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Failure to thrive, Akinesia, Lower limb spasticity, Abnormal pyramidal sign, ... OMIM:618249
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Increased circulating free T3, Attention deficit hyperactivity disorder, Increased circul... OMIM:188570
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Cerebellar dysplasia, Abnormal cerebellum m... ORPHA:101070
Classic Galactosemia
Ataxia, Depression, Gait imbalance, Lethargy, Decreased fertility in females, Oligomenorrhea, Gai... ORPHA:79239
Glutathionuria
Dysdiadochokinesis, Action tremor, Tremor OMIM:231950
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Spasticity, Cerebral palsy, Chorea, Babinski sign, Hypertonia, Dystonia, Delayed myelination, Cho... OMIM:618451
Spastic Paraplegia 44, Autosomal Recessive
Spastic paraplegia, Dysmetria, Distal sensory impairment, Babinski sign, Lower limb spasticity, A... OMIM:613206
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:609425
Kennedy Disease
Testicular atrophy, Gait disturbance, Decreased fertility, Erectile dysfunction ORPHA:481
Combined Oxidative Phosphorylation Deficiency 32
Spasticity, Cerebellar atrophy, Inability to walk, Tremor, Dystonia, Choreoathetosis OMIM:617664
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Secondary amenorrhea, Limb ataxia, Positive Romberg sign, Gait ataxia, Rigidi... OMIM:258450
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Cerebral atrophy, Dysmetria, Tremor, Diffuse cerebral atrophy, Limb hypertoni... OMIM:617710
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Clonus, Spastic tetraparesis OMIM:617481
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Dis... OMIM:601455
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Sydenham Chorea
Chorea, Hemiballismus ORPHA:306731
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar hypoplasia, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy OMIM:616171
Primary Progressive Freezing Gait
Cerebral cortical atrophy, Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, R... ORPHA:75567
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia ORPHA:99014
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Parkinsonism, Ataxia, Bradykinesia, Intenti... OMIM:619725
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Familial Infantile Myoclonic Epilepsy
Blepharospasm, Cerebellar atrophy, Limb myoclonus, Clumsiness, Gait disturbance, Ataxia ORPHA:352582
Cdkl5-Deficiency Disorder
Impaired pain sensation, Difficulty walking, Bruxism, Inappropriate laughter, Stereotypical hand ... ORPHA:505652
Joubert Syndrome 20
Aggressive behavior, Self-mutilation, Molar tooth sign on MRI OMIM:614970
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebellar atrophy, Upper limb postural tremor, Involuntary movements, Tetraparesis, Diff... ORPHA:477774
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Abnormal pyramidal sign, Neuronal loss i... OMIM:256600
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ... ORPHA:101077
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Myoclonus, Hyperkinetic movements, Dystonia, Choreoathetosis OMIM:618497
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Hydrocephalus OMIM:618302
Prune1-Related Neurological Syndrome
Tongue fasciculations, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Inability to wa... ORPHA:544469
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Spasticity, Broad-based gait, Acropar... ORPHA:206448
Lesch-Nyhan Phenotype With Normal Hgprt
Spasticity, Choreoathetosis OMIM:308950
3-Methylglutaconic Aciduria, Type I
Spasticity, Ataxia, Dystonia, Athetosis, Spastic tetraplegia OMIM:250950
Alzheimer Disease 3
Myoclonus, Abnormality of extrapyramidal motor function, Dystonia, Babinski sign, Apraxia, Optic ... OMIM:607822
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Spasticity, Cerebellar atrophy, Cerebral atrophy, Oculomotor apraxia, Cere... OMIM:614678
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Cerebellar vermis atrophy, Diffuse cerebral atrophy, Corpus callosum atrophy, Atrophy... ORPHA:77299
Spinocerebellar Ataxia Type 6
Blepharospasm, Incoordination, Gait ataxia, Dystonia, Babinski sign, Unsteady gait, Intention tre... ORPHA:98758
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medic... ORPHA:240085
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... OMIM:606159
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Spinocerebellar Ataxia 1
Impaired vibratory sensation, Spasticity, Impaired pain sensation, Fasciculations, Dilated fourth... OMIM:164400
Childhood-Onset Spasticity With Hyperglycinemia
Spastic dysarthria, Myoclonus, Babinski sign, Loss of ability to walk in early childhood, Hyperto... ORPHA:401866
Peho-Like Syndrome
Myoclonus, Cerebellar atrophy OMIM:617507
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility OMIM:620103
Cog8-Cdg
Cerebellar atrophy, Failure to thrive, Myoclonus, Atrophy/Degeneration affecting the brainstem, A... ORPHA:95428
Intellectual Developmental Disorder, Autosomal Dominant 62
Cerebellar vermis atrophy OMIM:618793
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Head tremor, Chorea, Gait ataxia, Limb ataxia, Pontocerebellar atrophy, Tremo... OMIM:606002
Mohr-Tranebjaerg Syndrome
Dystonia, Spasticity, Abnormal posturing, Tremor OMIM:304700
Episodic Ataxia Type 7
Hyperkinetic movements, Episodic ataxia ORPHA:209970
Null Syndrome
Progressive spastic paraplegia, Difficulty walking, Inability to walk, Abnormal cerebellum morpho... ORPHA:280234
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Pseudobulbar paralysis, Difficulty walking, Dysmetria, Diffuse cerebral atrophy, Dystonia, Lower ... ORPHA:438114
Pyruvate Carboxylase Deficiency
Athetosis, Clonus, Leukodystrophy OMIM:266150
Brunner Syndrome
Kinetic tremor OMIM:300615
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Dystonia ORPHA:306669
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Difficulty walking, Impaired vibration sensation in the lower limbs, Head tremor, Gait ataxia, Sp... ORPHA:95433
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Ataxia OMIM:254800
Foxg1 Syndrome
Spasticity, Difficulty walking, Inability to walk, Myoclonus, Hyperkinetic movements, Dystonia, D... ORPHA:561854
Pontocerebellar Hypoplasia, Type 2B
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Cerebella... OMIM:612389
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Hypoplasia of the pons, Dysmetria, Cerebellar hypoplasia, Head titubation, At... OMIM:619708
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia OMIM:257970
Aicardi-Goutieres Syndrome 4
Spasticity, Cerebellar atrophy, Cerebral atrophy, Hydrocephalus, Dystonia OMIM:610333
Leukoencephalopathy With Ataxia
Limb ataxia, Gait ataxia, Action tremor OMIM:615651
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Fasciculations, Postural tremor, Loss of ambulation, Abnormal pyra... OMIM:608627
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Limb dystonia, Tremor, Ataxia OMIM:620270
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Spasticity, Cerebellar vermis atrophy, Inability to walk, Dysmetria, Cerebellar hypoplasia, Oculo... OMIM:618087
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Thickened superior cerebell... OMIM:609583
Combined Oxidative Phosphorylation Deficiency 27
Cerebral cortical atrophy, Global brain atrophy, Cerebellar atrophy, Failure to thrive, Cerebral ... OMIM:616672
Developmental And Epileptic Encephalopathy 93
Cerebellar atrophy, Cerebral atrophy, Inability to walk, Gait disturbance, Spastic tetraparesis OMIM:618012
Susac Syndrome
Lethargy, Apathy, Gait ataxia, Somatic sensory dysfunction ORPHA:838
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia OMIM:612126
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Gait ataxia, Loss of ambulation, Hy... OMIM:620089
Pontocerebellar Hypoplasia, Type 3
Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Decreased body weight, ... OMIM:608027
Developmental And Epileptic Encephalopathy 48
Cerebellar atrophy, Limb hypertonia, Cerebral atrophy OMIM:617276
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor... OMIM:261640
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis, Paresthesia, Failure to thrive OMIM:612740
Aceruloplasminemia
Blepharospasm, Chorea, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Torticoll... OMIM:604290
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Abnormal cerebellum morphology, Tremor OMIM:190310
Combined Oxidative Phosphorylation Deficiency 13
Dystonia, Choreoathetosis, Leukodystrophy OMIM:614932
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbance, Restlessness, Motor... OMIM:600795
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus ORPHA:324708
Pyruvate Dehydrogenase E2 Deficiency
Oculomotor apraxia, Choreoathetosis, Jerky head movements, Ataxia OMIM:245348
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Failure to thrive, Progressive spastic quadriplegia, Dystonia, Choreoathetosi... ORPHA:431361
Hemochromatosis, Type 2A
Azoospermia, Hypogonadotropic hypogonadism, Lethargy, Amenorrhea, Infertility OMIM:602390
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Intenti... OMIM:610217
Scholte Syndrome
Abnormal pyramidal sign, Cerebellar atrophy OMIM:300977
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... OMIM:607876
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbanc... ORPHA:275864
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Myoclonus, Hypertonia OMIM:610090
Spinocerebellar Ataxia, Autosomal Recessive 20
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Cerebellar hypoplas... OMIM:616354
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
Developmental And Epileptic Encephalopathy 72
Hyperkinetic movements, Inability to walk OMIM:618374
Mucolipidosis Iv
Babinski sign, Dystonia, Cerebellar atrophy, Spastic tetraplegia OMIM:252650
Intellectual Developmental Disorder, Autosomal Recessive 79
Incoordination, Broad-based gait, Gait ataxia, Intention tremor OMIM:620393
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy OMIM:618906
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnormality of extrapyramid... ORPHA:275872
Developmental And Epileptic Encephalopathy 1
Dystonia, Abnormal pyramidal sign, Delayed CNS myelination, Hypertonia, Spastic tetraparesis, Err... OMIM:308350
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:102
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Male hypogonadism, Resting tremor, Tremo... OMIM:300055
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Developmental And Epileptic Encephalopathy 78
Spasticity, Chorea, Cerebral palsy OMIM:618557
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigi... ORPHA:227510
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... OMIM:618718
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Generalized dystonia, Cerebral atrophy, Myoclonus, Gait disturbance, Oromandi... ORPHA:412217
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus ORPHA:139406
Charcot-Marie-Tooth Disease Type 4D
Somatic sensory dysfunction, Inability to walk, Postural tremor, Distal sensory impairment, Unste... ORPHA:99950
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Chorea, Myoclonus, Hyperkinetic movements, Ataxia, Dystonia, Choreoathetosis OMIM:619317
Autosomal Dominant Spastic Paraplegia Type 12
Male sexual dysfunction, Female sexual dysfunction, Progressive spastic paraplegia, Difficulty wa... ORPHA:100993
Episodic Ataxia, Type 5
Ataxia, Truncal ataxia, Myoclonus, Episodic ataxia OMIM:613855
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Paralysis, Distal sensory impairment OMIM:605285
Severe Canavan Disease
Inability to walk, Lethargy ORPHA:314911
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, At... OMIM:617695
Joubert Syndrome 6
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Elongated su... OMIM:610688
Amyotrophic Lateral Sclerosis 18
Spasticity, Fasciculations OMIM:614808
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hydrocephalus, Abnormal brainstem m... ORPHA:1532
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign ORPHA:477673
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Postural tremor, Ataxia OMIM:300619
Autosomal Recessive Spastic Paraplegia Type 35
Spastic paraplegia, Cerebral cortical atrophy, Cerebellar atrophy, Generalized dystonia, Difficul... ORPHA:171629
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Spastic paraparesis, Difficulty walking, Decreased activity of mito... OMIM:500013
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Ataxia OMIM:246900
Srd5A3-Cdg
Abnormal cerebellar vermis morphology, Abnormal cerebellum morphology, Cerebellar atrophy, Ataxia ORPHA:324737
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Distal Deletion 3P
Low-set, posteriorly rotated ears, Abnormal vestibulo-ocular reflex, Hearing impairment, Cognitiv... ORPHA:1620
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Steppage gait, Somatic sensory dysfunction, Impaired distal tactile sensation, Fasciculations OMIM:600882
Autosomal Dominant Optic Atrophy, Classic Form
Spastic paraplegia, Spasticity, Cerebellar atrophy, Hypogonadism, Hemiparesis, Gait disturbance, ... ORPHA:98673
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Myoclonus, Decreased body weight OMIM:619060
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
CNS hypomyelination, Inability to walk, Rigidity, Hypertonia, Choreoathetosis OMIM:620023
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Frequent falls OMIM:159950
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Broad-based gait, Tip-toe gait, Fasciculations, Babinski sign, Lower limb spasticity, Steppage ga... OMIM:615290
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations OMIM:619141
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Tetraplegia, Hand tremor, Fasciculations OMIM:604484
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Cerebellar atrophy, Positive Romberg sign, Myoclonus, Dysmetria, Intention tremor, Cerebellar hyp... OMIM:301310
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Spastic tetraparesis, Cerebellar atrophy OMIM:618506
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Inability to walk, Myoclonus, Pontocerebellar atrophy, Dystonia, Cl... OMIM:617854
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Vocal cord paresis, Cerebellar atrophy, Facial paralysis, Impaired pain se... ORPHA:99949
Salt And Pepper Developmental Regression Syndrome
Myoclonus, Choreoathetosis OMIM:609056
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Impaired pain sensation, Chorea, Gait ataxia, Abnormality of extrapyramidal motor fun... ORPHA:500180
Folate Malabsorption, Hereditary
Athetosis, Ataxia OMIM:229050
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Coenzyme Q10 Deficiency, Primary, 5
Cerebral atrophy, Dystonia, Cerebellar atrophy, Hypertonia OMIM:614654
Infantile Neuroaxonal Dystrophy
Spasticity, Cerebellar atrophy, Dystonia, Unsteady gait, Abnormal pyramidal sign, Gait disturbanc... ORPHA:35069
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements ORPHA:397933
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Tremor, Cerebral hypomyelination, Delayed CNS myelination, Spastic tetraplegi... OMIM:612164
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Free Sialic Acid Storage Disease
Spasticity, Gait disturbance, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Athetosis ORPHA:834
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor OMIM:614307
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:98933
Congenital Myopathy 9A
Tongue fasciculations, Akinesia OMIM:618822
Huntington Disease-Like 3
Spasticity, Chorea, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia OMIM:604802
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Dystonia, Frequent falls, Choreoathetosis, Ataxia OMIM:618416
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Frontal lobe dementia, Sensorineural hearing impairment, Babinski ... OMIM:615911
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Frontotemporal cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affec... OMIM:619606
Allan-Herndon-Dudley Syndrome
Spasticity, Abnormality of extrapyramidal motor function, Ankle clonus, Babinski sign, Abnormal p... ORPHA:59
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Tre... ORPHA:240071
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Demyelinating motor neuropathy, Choreoathetosis, Demyelinating peripheral neuropathy OMIM:617519
Cog7-Cdg
Small for gestational age, Cerebellar atrophy, Failure to thrive, Subcortical cerebral atrophy, B... ORPHA:79333
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hyperactivity ORPHA:85288
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Distal sensory impairment, Tremor, Babinski sign, Steppage gait, Hypertonia OMIM:609260
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608049
Ataxia With Vitamin E Deficiency
Hemiplegia/hemiparesis, Dysmetria, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,... ORPHA:96
Isolated Atp Synthase Deficiency
Spastic paraplegia, Cerebral cortical atrophy, Cerebellar atrophy, Hypogonadism, Tetraplegia, Ata... ORPHA:254913
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Ataxia OMIM:618225
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Chorea, Paresthesia, Dysmetria, Abnormal pyramidal sign, Ataxia, Intention tremor ORPHA:48431
Primary Dystonia, Dyt4 Type
Blepharospasm, Upper limb postural tremor, Involuntary movements, Generalized dystonia, Laryngeal... ORPHA:98805
Developmental And Epileptic Encephalopathy 16
Dystonia, Abnormality of extrapyramidal motor function, Myoclonus, Hemiparesis OMIM:615338
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hypothyroidism, Motor tics, Hyperactivity, Compulsive b... OMIM:619927
Joubert Syndrome 30
Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malformation OMIM:617622
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Tremor, Rigidity, Dystonia, ... OMIM:615530
Parkinsonism With Polyneuropathy
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:619279
Hereditary Hyperekplexia
Spasticity, Fasciculations, Myoclonus, Rigidity, Gait disturbance, Hypertonia, Ataxia ORPHA:3197
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Delayed menarche, Azoospermia, Decreased testicular size, Decreased female lib... ORPHA:52901
Hartnup Disorder
Attention deficit hyperactivity disorder, Emotional lability, Hyperactivity OMIM:234500
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Dysmetria, Lethargy, Spastic gait, Truncal ataxia, Dysdiadochokinesis OMIM:238970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Inability to walk, Cerebellar dysplasia, Cerebellar hypoplasia, Hyd... OMIM:613155
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Failure to thrive, Gait ataxia, Dif... ORPHA:543470
Adenylosuccinase Deficiency
Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Hemiplegia, Myoclonus, Gait ... OMIM:103050
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Head tremor, Torticollis, Dystonia, Intention tremor OMIM:613724
Sneddon Syndrome
Chorea, Tremor, Hemiparesis ORPHA:820
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Cerebral cortical atrophy, Gait ataxia, Intention tremor, Dysmetria, ... ORPHA:93256
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Cerebral atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Paralysi... OMIM:105500
Bile Acid Synthesis Defect, Congenital, 6
Vertical supranuclear gaze palsy, Gait ataxia, Dysmetria, Ataxia, Slurred speech OMIM:617308
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:617127
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Lipoyltransferase 1 Deficiency
Dystonia, Spastic tetraparesis, Cerebellar atrophy, Abnormality of extrapyramidal motor function OMIM:616299
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Cerebellar atrophy, Limb hypertonia, Torticollis, Ataxia OMIM:618547
Shukla-Vernon Syndrome
Broad-based gait, Cerebellar atrophy OMIM:301029
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Myoclonus, Slurred speech ORPHA:3327
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Irritability, Polyphagia, Increased circul... OMIM:275000
Recessive Mitochondrial Ataxia Syndrome
Impaired vibratory sensation, Limb dysmetria, Positive Romberg sign, Dysmetria, Abnormality of ce... ORPHA:94125
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Decreased body weight, Hyperkinetic movements, Neuronal loss in central nervo... OMIM:300243
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Spasticity, Spastic tetraplegia, Choreoathetosis OMIM:618238
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Postencephalitic Parkinsonism
Involuntary movements, Resting tremor, Akinesia, Paresthesia, Cogwheel rigidity, Rigidity, Babins... ORPHA:97349
Cyclic Vomiting Syndrome
Lethargy, Ataxia OMIM:500007
Aceruloplasminemia
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidit... ORPHA:48818
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis OMIM:233910
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Polyphagia, Molar tooth sign on MRI, Frequent temper tantrums OMIM:300804
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ... OMIM:612953
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Tremor, Ataxia OMIM:300983
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Myoclonus, Tremor, Loss of ambulation, Diffuse cerebral atrophy, Right hemipl... OMIM:607426
Cerebrotendinous Xanthomatosis
Spasticity, Cerebellar atrophy, Cerebral atrophy, Pseudobulbar paralysis, Difficulty walking, Ank... OMIM:213700
Congenital Disorder Of Glycosylation, Type In
Spasticity, Myoclonus, Ataxia OMIM:612015
Parkinson-Dementia Syndrome
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity OMIM:260540
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Myoclonus, Limb tremor, Hypertonia OMIM:300699
Episodic Ataxia, Type 4
Spasticity, Episodic ataxia, Esophoria, Abnormality of ocular smooth pursuit, Gaze-evoked nystagmus OMIM:606552
Congenital Myopathy 16
Postural tremor, Tongue tremor OMIM:618524
Spinocerebellar Ataxia With Epilepsy
Gait ataxia, Myoclonus, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive cerebellar a... ORPHA:254881
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Cerebellar atrophy, Cerebral atrophy, Loss of ambulation, Clumsiness, Pa... ORPHA:79264
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Fasciculati... OMIM:620327
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Spasticity, Cerebellar atrophy, Resting tremor, Cerebral atrophy, Head tremor, Babinski sign, Neu... ORPHA:314404
Huntington Disease
Involuntary movements, Difficulty walking, Inability to walk, Chorea, Gait imbalance, Myoclonus, ... ORPHA:399
Snijders Blok-Fisher Syndrome
Opisthotonus, Spasticity, Delayed CNS myelination, Choreoathetosis OMIM:618604
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Tremor, Rigidity, Gait disturbance, Ataxia OMIM:603472
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Joubert Syndrome 16
Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation OMIM:614465
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Tip-toe gait, Difficulty walking, Cerebellar cyst, Frequent falls OMIM:606612
Dravet Syndrome
Global brain atrophy, Incoordination, Cogwheel rigidity, Action tremor, Myoclonus, Rigidity, Prog... ORPHA:33069
Galloway-Mowat Syndrome 10
Myoclonus, Cerebellar atrophy, Cerebral atrophy OMIM:619609
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Lethargy, Chorea, Choreoathetosis ORPHA:289916
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Gait ataxia... ORPHA:282166
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Choreoathetosis, Tremor, Ataxia OMIM:619422
Jaberi-Elahi Syndrome
Broad-based gait, Failure to thrive, Cerebellar vermis atrophy, Inability to walk, Gait ataxia, D... OMIM:617988
Thyrocerebroretinal Syndrome
Myoclonus, Slurred speech, Ataxia OMIM:274240
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Ataxia OMIM:618228
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia ORPHA:542310
East Syndrome
Cerebellar atrophy, Difficulty walking, Inability to walk, Action tremor, Ataxia ORPHA:199343
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Spastic gait, Gait ataxia, Spasticity, Cerebellar atrophy ORPHA:496790
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Truncal ataxia, Myoclonus, Morning myoclonic jerks, Episodic ataxia OMIM:607682
Alpha-Mannosidosis, Adult Form
Cerebral cortical atrophy, Cerebellar atrophy, Clumsiness, Ataxia, Subcortical cerebral atrophy ORPHA:309288
Optic Atrophy 11
Dysmetria, Hyperkinetic movements, Delayed CNS myelination, Gait apraxia, Ataxia, Athetosis OMIM:617302
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Speech apraxia, Inability to walk, Chor... OMIM:615356
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Motor stereotypy OMIM:617393
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks OMIM:254770
Isaacs Syndrome
Fasciculations ORPHA:84142
Phenylketonuria
Lower limb spasticity, Tremor, Ataxia ORPHA:716
Spastic Paraplegia 51, Autosomal Recessive
Spastic paraplegia, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk,... OMIM:613744
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Spasticity, Fasciculations, Tetraparesis, Difficulty walking, Ankle clonus, Babinski sign, Lower ... OMIM:613954
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Resting tremor, Myoclonus, Rigidity, Dystonia, Loss of ambulation, Parkinsonism, ... OMIM:168601
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Waisman Syndrome
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... OMIM:311510
Autosomal Recessive Spastic Paraplegia Type 9B
Cerebral cortical atrophy, Spasticity, Tip-toe gait, Postural tremor, Babinski sign, Corpus callo... ORPHA:447760
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Speech apraxia, Intention tremor, Dysmetria, Ataxia OMIM:619352
Tay-Sachs Disease
Global brain atrophy, Cerebellar atrophy, Fasciculations, Incoordination, Inability to walk, Lary... ORPHA:845
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Stt3A-Cdg
Cerebellar atrophy ORPHA:370921
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Resting tremor, Akinesia, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:616840
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Postural tremor, Gait ataxia, Myoclonus, Action tremor, Unsteady gait, Intent... OMIM:254900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Gait imbalance OMIM:618120
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Fasciculations, Impaired vibration sensation in the lower limbs, Clumsiness, Steppage gait, Frequ... ORPHA:521411
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cervical myelopathy, Cerebellar atrophy, Cerebral atrophy, Tetraparesis, Ataxia, Brain atrophy OMIM:619260
Sulfite Oxidase Deficiency, Isolated
Generalized dystonia, Hemiplegia, Hypertonia, Ataxia, Choreoathetosis OMIM:272300
Mitochondrial Complex I Deficiency, Nuclear Type 31
Myoclonus, Dysmetria OMIM:618251
Hjv Or Hamp-Related Hemochromatosis
Hypogonadism, Lethargy, Impotence ORPHA:79230
Polymicrogyria Due To Tubb2B Mutation
Oromotor apraxia, Cerebellar atrophy, Hypoplasia of the pons, Hemiparesis ORPHA:300573
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Opisthotonus,... OMIM:619272
Alexander Disease
Spasticity, Dysmetria, Babinski sign, Ataxia, Palatal tremor OMIM:203450
Pontocerebellar Hypoplasia, Type 1D
Tongue fasciculations, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, Failure to thri... OMIM:618065
Familial Or Sporadic Hemiplegic Migraine
Tongue fasciculations, Involuntary movements, Cerebellar atrophy, Facial paralysis, Spontaneous p... ORPHA:569
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Hsd10 Mitochondrial Disease
Spasticity, Sensorineural hearing impairment, Abnormal mitochondrial morphology, Progressive neur... OMIM:300438
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Mitochondrial Complex I Deficiency, Nuclear Type 27
Spastic tetraplegia, Vertical supranuclear gaze palsy, Ataxia OMIM:618248
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, Apraxia, Gait disturbance, Myoclonus OMIM:618193
Spinocerebellar Ataxia Type 7
Cerebellar atrophy, Somatic sensory dysfunction, Failure to thrive, Cerebral atrophy, Dysmetria, ... ORPHA:94147
Charcot-Marie-Tooth Disease And Deafness
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment OMIM:118300
Late Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Myoclonus, Gait disturbance,... ORPHA:168491
Neuroectodermal Melanolysosomal Disease
Spasticity, Tremor, Rigidity, Hypertonia, Ataxia ORPHA:33445
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Spasticity, Cerebellar atrophy, Cataplexy, Ataxia OMIM:604121
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Broad-based gait, Small for gestational age, Cerebellar atrophy, Cerebral atrophy, Failure to thr... OMIM:618891
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy, Gait disturbance OMIM:236270
Autosomal Dominant Dopa-Responsive Dystonia
Generalized dystonia, Impaired vibration sensation in the lower limbs, Postural tremor, Gait atax... ORPHA:98808
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Tremor, Distal sensory impai... ORPHA:90117
Joubert Syndrome 32
Abnormal cerebellum morphology, Molar tooth sign on MRI OMIM:617757
Perry Syndrome
Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:168605
Acute Peripheral Arterial Occlusion
Paralysis, Paresthesia, Impaired distal tactile sensation ORPHA:90064
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... OMIM:610600
Epilepsy With Eyelid Myoclonia
Abnormal head movements, Limb myoclonus ORPHA:139431
Ataxia-Telangiectasia-Like Disorder 2
Neurodegeneration, Unsteady gait, Cerebellar atrophy, Ataxia OMIM:615919
Cimdag Syndrome
Cerebellar vermis hypoplasia, Spasticity, Cerebral atrophy, Hypogonadism, Chorea, Pontocerebellar... OMIM:619273
Mohr-Tranebjaerg Syndrome
Optic atrophy, Shuffling gait, Prelingual sensorineural hearing impairment, Abnormality of somato... ORPHA:52368
Developmental And Epileptic Encephalopathy 109
Gait ataxia, Spasticity, Crouch gait, Myoclonus OMIM:620145
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Cerebellar atrophy, Cerebral atrophy, Dilated fourth ventricle, Pontocerebellar atrophy, Cerebell... OMIM:620428
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem... OMIM:619574
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Myoclonus, Tremor, Dystonia, Choreoathetosis OMIM:312170
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Pain insensitivity, Oculomotor apraxia, Abnormal pyramidal sign, Delayed CNS myelination, Athetosis OMIM:614388
Superficial Siderosis
Cerebellar atrophy, Impaired pain sensation, Impaired temperature sensation, Paresthesia, Limb at... ORPHA:247245
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI OMIM:619111
Intellectual Developmental Disorder, Autosomal Recessive 73
Gait ataxia, Recurrent hand flapping, Impulsivity OMIM:619717
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Filippi Syndrome
Dystonia, Cerebellar atrophy, Decreased body weight OMIM:272440
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Lower limb... OMIM:616881
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Dystonia, Spasticity, Myoclonus, Ataxia OMIM:620094
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory re... ORPHA:1215
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cerebellar vermis atrophy, Hypogonadism, Gait ataxia, Tremor, Abdominal obesity OMIM:300354
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Dystonia, Pa... OMIM:613280
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait OMIM:615516
Amyotrophic Lateral Sclerosis 5, Juvenile
Babinski sign, Spasticity, Abnormal pyramidal sign, Fasciculations OMIM:602099
Oromandibular Dystonia
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Hyperkinetic movements, L... ORPHA:93958
Pyruvate Dehydrogenase Deficiency
Spasticity, Cerebral palsy, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia, ... ORPHA:765
3-Methylglutaconic Aciduria Type 7
Spasticity, Cerebellar atrophy, Cerebral atrophy, Myoclonus, Abnormality of extrapyramidal motor ... ORPHA:445038
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Dystonia, Spasticity, Cerebellar atrophy, Cerebral atrophy OMIM:619286
Combined Oxidative Phosphorylation Defect Type 13
Delayed myelination, Limb dystonia, Choreoathetosis, Lower limb hypertonia ORPHA:319514
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Tremor, Hyperkinetic movements, Gait disturbance, Overweight, Upper limb sp... ORPHA:457240
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Cerebellar vermis atrophy, Truncal ataxia, Broad-based gait, Limb ataxia OMIM:617101
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Fasciculations OMIM:137200
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar hypoplasia, Spasticity, Cerebellar atrophy ORPHA:168486
Atypical Rett Syndrome
Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Impaired pain sensation, ... ORPHA:3095
Continuous Spikes And Waves During Sleep
Hyperkinetic movements, Speech apraxia, Clumsiness, Dystonia ORPHA:725
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Dysmetria, Ataxia OMIM:619576
Pigmented Nodular Adrenocortical Disease, Primary, 1
Mental deterioration, Decreased circulating dehydroepiandrosterone concentration, Depression, Inc... OMIM:610489
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Rigidity, Dystonia, Babinski sign, ... ORPHA:289560
Intellectual Developmental Disorder, Autosomal Dominant 7
Inappropriate laughter, Stereotypical hand wringing, Gait disturbance, Hyperactivity, Ataxia, Mot... OMIM:614104
Galloway-Mowat Syndrome 9
Cerebral cortical atrophy, Cerebellar atrophy, Choreoathetosis OMIM:619603
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Short Stature-Micrognathia Syndrome
Cerebellar atrophy, Failure to thrive, Gait ataxia, Decreased body weight, Ataxia OMIM:617164
Pontocerebellar Hypoplasia Type 4
Myoclonus, Hypertonia ORPHA:166063
Stt3B-Cdg
Cerebellar atrophy ORPHA:370924
Xq28 (MECP2) duplication
Inability to walk, Motor stereotypy, Dysphagia, Gait ataxia DECIPHER:45
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility OMIM:614874
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Dystonia, Tremor, Rigidity OMIM:615010
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Molar tooth sign on MRI OMIM:614120
3-Methylglutaconic Aciduria, Type Ix
Spasticity, Clonus, Choreoathetosis, Hypertonia OMIM:617698
Joubert Syndrome 22
Agenesis of cerebellar vermis, Molar tooth sign on MRI OMIM:615665
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Limb dystonia, Cerebellar atrophy, Cerebral atrophy OMIM:620269
Niemann-Pick Disease, Type A
Spasticity, Inability to walk, Rigidity, Delayed CNS myelination, Athetosis OMIM:257200
Lennox-Gastaut Syndrome
Abnormal brainstem morphology, Aggressive behavior, Hyperactivity ORPHA:2382
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Choreoathetosis, Ataxia ORPHA:27
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Optic nerve hypoplasia, Somatic sensory dysfunction, Hand tremor, I... ORPHA:101085
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar vermis hypoplasia, Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Dilated f... ORPHA:572798
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Difficulty walking, Gait ataxia, Distal sensory impairment,... OMIM:614895
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Ceroid Lipofuscinosis, Neuronal, 3
Loss of ambulation, Parkinsonism, Myoclonus, Abnormality of extrapyramidal motor function OMIM:204200
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity, Cerebellar atrophy, Secondary amenorrhea, Hypergonadotropic hypogonadism ORPHA:3085
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Dysphagia, Disinhibition OMIM:612069
Multiple Sulfatase Deficiency
Spasticity, Cerebellar atrophy, Cerebral atrophy, Hydrocephalus, Ataxia OMIM:272200
Myopathy With Extrapyramidal Signs
Difficulty walking, Chorea, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Clo... OMIM:615673
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Hyperkinetic movements, Truncal ataxia, Chorea, Difficulty walking ORPHA:369847
Spinocerebellar Ataxia Type 3
Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par... ORPHA:98757
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment, Ataxia OMIM:271250
Congenital Disorder Of Glycosylation, Type Ix
Cerebellar atrophy OMIM:615597
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy, Ataxia OMIM:237300
Amyotrophic Lateral Sclerosis 1
Spasticity, Pseudobulbar paralysis, Fasciculations OMIM:105400
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Spasticity, Chorea OMIM:613970
Pontocerebellar Hypoplasia, Type 2E
Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Myoclonus, Opisthotonus, Hyp... OMIM:615851
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Chorea, Myoclonus, Lower limb spasticity, Upper limb spasticity ORPHA:485350
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Myoclonus, Limb dystonia, Babinski sign, Limb hypertonia, Limb ... OMIM:608643
Lissencephaly 6 With Microcephaly
Spasticity, Cerebellar atrophy, Limb hypertonia OMIM:616212
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebral cortical atrophy, Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Inability ... OMIM:617802
Early-Onset Lafora Body Disease
Mental deterioration, Confusion, Myoclonus, Ataxia, Spastic tetraparesis ORPHA:324290
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ... OMIM:616586
Dpm1-Cdg
Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Pontocerebellar atrophy, Abn... ORPHA:79322
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, Myoclonus, Ataxia OMIM:256730
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
X-Linked Creatine Transporter Deficiency
Chorea, Hypertonia, Ataxia, Dystonia, Athetosis ORPHA:52503
Parkinsonian-Pyramidal Syndrome
Spasticity, Shuffling gait, Myoclonus, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abnormal ... ORPHA:171695
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:26792
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Vocal cord paralysis ORPHA:640
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Impaired tactile sensation, Gait ataxia, Motor stereotypy, Ataxia OMIM:619092
Developmental And Epileptic Encephalopathy 68
Spasticity, Myoclonus, Clonus, Exaggerated startle response OMIM:618201
Pigmented Nodular Adrenocortical Disease, Primary, 2
Mental deterioration, Depression, Increased circulating cortisol level, Pigmented micronodular ad... OMIM:610475
Galloway-Mowat Syndrome 6
Cerebellar vermis atrophy, Cerebellar atrophy, Decreased body weight OMIM:618347
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Familial Peripheral Male-Limited Precocious Puberty
Attention deficit hyperactivity disorder, Oligozoospermia, Male infertility ORPHA:3000
Glutaric Acidemia I
Symmetrical progressive peripheral demyelination, Rigidity, Opisthotonus, Dystonia, Delayed myeli... OMIM:231670
Combined Oxidative Phosphorylation Deficiency 29
Spasticity, Global brain atrophy, Cerebellar atrophy, Axonal degeneration OMIM:616811
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Cerebellar atrophy, Cerebral atrophy, Myoclonus, Tremor, Hyperkinetic movements, Opis... OMIM:616271
Pyruvate Dehydrogenase E3 Deficiency
Lethargy, Ataxia ORPHA:2394
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Decreased moto... OMIM:601596
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Spasticity, Abnormal pyramidal sign, Cerebellar atrophy OMIM:614833
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Inability to walk, Gait ataxia, Opisthotonus, Limb hypertonia, Ataxia, Choreo... OMIM:619580
X-Linked Intellectual Disability, Schimke Type
Spasticity, Choreoathetosis ORPHA:85285
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Resting tremor, Tremor, Parkinsonism, Lower limb spasticity ORPHA:3077
Leber Optic Atrophy
Dystonia, Postural tremor, Ataxia OMIM:535000
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Saccharopinuria
Distal sensory impairment, Gait ataxia, Tremor, Spastic diplegia ORPHA:3124
Landau-Kleffner Syndrome
Memory impairment, Depression, Short attention span, Emotional lability, Aggressive behavior, Att... ORPHA:98818
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Citrullinemia Type I
Lethargy, Ataxia ORPHA:247525
Amyotrophy, Monomelic
Fasciculations OMIM:602440
Tryptophanuria With Dwarfism
Gait disturbance, Ataxia OMIM:276100
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Myoclon... ORPHA:478029
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Meningocele, Agenesis of cerebellar vermis... OMIM:611134
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Obesity, Cerebellar hypoplas... OMIM:618443
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo... ORPHA:556037
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Cerebellar hypoplasia, Truncal ataxia, Dystonia, Intention tremor OMIM:614407
Phosphoserine Aminotransferase Deficiency
Myoclonus, Hypertonia OMIM:610992
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Tongue fasciculations, Cerebellar atrophy, Cataplexy, Inability to walk, Diffuse cerebral atrophy... OMIM:617193
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebellar atrophy, Cerebral atrophy OMIM:619797
Epilepsy, Progressive Myoclonic, 10
Spasticity, Myoclonus, Spastic ataxia, Cognitive impairment, Ataxia, Dementia, Spastic tetraplegi... OMIM:616640
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Combined Oxidative Phosphorylation Deficiency 58
Ataxia, Cerebellar atrophy, Difficulty walking, Myoclonus, Gait ataxia, Appendicular spasticity, ... OMIM:620451
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Chorea, Lower limb spasticity, Gait ataxia OMIM:620445
Combined Oxidative Phosphorylation Deficiency 39
Involuntary movements, Spasticity, Cerebellar atrophy, Cerebral atrophy, Ankle clonus, Babinski s... OMIM:618397
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Lethargy, Choreoathetosis ORPHA:79312
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Involuntary movements, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Chorea, Ataxia, D... OMIM:617804
Peho Syndrome
Myoclonus, Cerebellar atrophy, Neuronal loss in central nervous system OMIM:260565
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L... ORPHA:157846
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Myoclonus OMIM:612899
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Spasticity, Cerebellar atrophy, Oromotor apraxia ORPHA:466934
Congenital Disorder Of Glycosylation, Type Ie
Tremor, Failure to thrive, Pontocerebellar atrophy, Ataxia OMIM:608799
Joubert Syndrome 18
Agenesis of cerebellar vermis, Occipital encephalocele, Molar tooth sign on MRI OMIM:614815
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Ataxia, Paroxysmal bursts o... ORPHA:228402
Autosomal Recessive Cutis Laxa Type 2A
Spasticity, Inability to walk, Ataxia, Dystonia, Athetosis, Slurred speech ORPHA:357058
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Chorea ORPHA:369840
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Cerebellar atrophy, Somatic sensory dysfunction, Tip-toe gait, Tong... ORPHA:466768
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Spasticity, Inability to walk, Hyperkinetic movements, Loss of ability to walk in early childhood... OMIM:612073
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... OMIM:619827
Neuropathy, Congenital Hypomyelinating, 3
Spasticity, Cerebellar atrophy, Babinski sign, Cachexia, Dystonia OMIM:618186
Phenylketonuria
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Meckel Syndrome, Type 10
Occipital encephalocele, Dilated fourth ventricle, Cerebellar hypoplasia, Molar tooth sign on MRI... OMIM:614175
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism, Cerebellar atrophy, Ataxia OMIM:610651
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Periodic paralysis OMIM:614198
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy OMIM:617105
Alg1-Cdg
Cerebellar atrophy, Cerebral atrophy ORPHA:79327
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Intellectual Developmental Disorder, X-Linked 12
Hyperkinetic movements, Spasticity, Gait disturbance, Tremor OMIM:300957
Pontocerebellar Hypoplasia Type 2
Spasticity, Upper limb hypertonia, Paroxysmal dystonia, Babinski sign, Choreoathetosis, Lower lim... ORPHA:2524
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Akinesia, Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation OMIM:225790
Joubert Syndrome 7
Brainstem dysplasia, Encephalocele, Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:611560
Piebald Trait With Neurologic Defects
Ataxia OMIM:172850
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykinesia ORPHA:70594
Pontocerebellar Hypoplasia, Type 4
Spasticity, Myoclonus, Hypertonia OMIM:225753
Primary Angiitis Of The Central Nervous System
Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebellar vermis atrophy, Cerebral atrophy OMIM:615760
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Spasticity, Difficulty walking, Abnormality of coordination, Myoclonus, Tr... ORPHA:442835
Childhood Absence Epilepsy
Abnormal social behavior, Limb myoclonus, Jerky head movements ORPHA:64280
Typhoid
Lethargy, Ataxia ORPHA:99745
Congenital Disorder Of Glycosylation, Type Id
Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Hypertonia, Spastic tetraparesis OMIM:601110
Pontocerebellar Hypoplasia, Type 1A
Tongue fasciculations, Hand tremor, Fasciculations, Limb ataxia, Ataxia OMIM:607596
Riboflavin Deficiency
Lethargy OMIM:615026
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Gait disturbance, ... ORPHA:544254
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Cerebellar atrophy, Failure to thrive, Cerebellar hypoplasia, Partial absence of cerebellar vermi... ORPHA:329224
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly OMIM:614464
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Warburg Micro Syndrome 4
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Babinski sign, Spastic tetraplegia OMIM:615663
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI OMIM:618161
Nasu-Hakola Disease
Spasticity, Oculomotor apraxia, Chorea ORPHA:2770
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Neurodegeneration, Chorea, Dystonia, Paralysis, Abnormal pyramidal sign, Hypert... OMIM:272750
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Hydrocephalus, Agenesis of cerebella... ORPHA:163961
Choreoacanthocytosis
Resting tremor, Limb dystonia, Loss of ambulation, Parkinsonism, Frontal cortical atrophy, Lingua... ORPHA:2388
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Cerebral atrophy, Corpus callosum atrophy, Limb hypertonia, Dystonia, Brain a... OMIM:616875
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Paresthesia ORPHA:49827
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Gait imbalance, Abnormal cerebellum morphology, Ankle clonus, Clumsiness, ... OMIM:211530
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Abnormal pyra... ORPHA:204
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility OMIM:277180
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Cerebellar atrophy, Cerebral atrophy OMIM:268020
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo... ORPHA:556030
Juvenile Absence Epilepsy
Myoclonus ORPHA:1941
Myoclonic Epilepsy Of Infancy
Myoclonus, Poor motor coordination, Poor hand-eye coordination, Hemiplegia ORPHA:86909
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsi... ORPHA:43
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Ataxia, Dystonia, Small for gestational ... OMIM:615471
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Spasticity, Global brain atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Myoclo... OMIM:618426
Maple Syrup Urine Disease, Type Ia
Lethargy, Ataxia OMIM:248600
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Tetraparesis, Myoclonus, Gait ataxia, Tremor, Limb dystonia,... ORPHA:363400
Craniosynostosis 6
Spina bifida occulta, Cerebellar atrophy, Dandy-Walker malformation OMIM:616602
Mevalonic Aciduria
Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Failure to thrive in infancy, Ataxia, Ag... OMIM:610377
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebellar atrophy, Cerebral atrophy, Large for gestational age, Ankle clonus, Cerebellar hypopla... OMIM:615398
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Increased cerebral lipofuscin, Myoclonus, Intention tremor OMIM:610539
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Spasticity, Chorea, Ataxia ORPHA:70472
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Spasticity, Chorea OMIM:620149
Autosomal Recessive Spastic Paraplegia Type 77
Progressive spastic paraplegia, Myoclonus, Paroxysmal dystonia, Loss of ambulation, Babinski sign... ORPHA:466722
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Combined Oxidative Phosphorylation Deficiency 38
Low-set ears, Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mit... OMIM:618378
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Decreased serum insulin-like growth factor 1, Elevated circulating growth ho... ORPHA:85327
Supranuclear Palsy, Progressive, 2
Falls, Postural tremor, Gait imbalance, Akinesia, Retrocollis, Axial dystonia, Rigidity, Parkinso... OMIM:609454
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy ORPHA:28
Holocarboxylase Synthetase Deficiency
Lethargy, Ataxia ORPHA:79242
Cog5-Cdg
Cerebellar atrophy, Diffuse cerebral atrophy, Neurogenic bladder, Atrophy/Degeneration affecting ... ORPHA:263487
Combined Oxidative Phosphorylation Deficiency 2
Lethargy OMIM:610498
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Failure to thrive, Neurodegeneration, Brain atrophy, Cerebellar hypoplasia, D... OMIM:214150
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia OMIM:168600
Pandas
Clumsiness, Chorea ORPHA:66624
Cystathioninuria
Tremor ORPHA:212
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Attention deficit hyperactivity disorder, Hypoplasia of the pons, A... ORPHA:467166
Central Diabetes Insipidus
Lethargy, Depression ORPHA:178029
Immunodeficiency 114, Folate-Responsive
Cerebellar atrophy, Cerebral atrophy OMIM:620603
Fragile X Syndrome
Abnormal head movements OMIM:300624
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche OMIM:614662
Gm2 Gangliosidosis, Ab Variant
Progressive spastic quadriplegia, Chorea, Abnormal pyramidal sign, Exaggerated startle response ORPHA:309246
Hijazi-Reis Syndrome
Gait disturbance, Motor stereotypy OMIM:301094
Ogden Syndrome
Abnormal head movements, Shuffling gait, Hypertonia, Torticollis ORPHA:276432
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cataplexy, Fasciculations, Neurogenic ... ORPHA:496641
Microhydranencephaly
Athetosis, Spastic tetraplegia OMIM:605013
Birk-Aharoni Syndrome
Chorea, Spastic tetraplegia OMIM:620071
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Ataxia, Dystonia, Athetosis ORPHA:25
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar vermis hypoplasia, Cerebellar atrophy, Failure to thrive, Dilated fourth ventricle, In... OMIM:212065
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Spasticity, Hypogonadism, Cerebral hypomyelination, Hypertonia, Athetosis, Delayed myelination, S... ORPHA:79351
Mitochondrial Dna Depletion Syndrome 11
Cerebellar atrophy OMIM:615084
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology, Abnormal cerebellum morphology ORPHA:255182
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Oligozoospermia, Male infertility ORPHA:48
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Lethargy, Gait disturbance OMIM:250940
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Hypoplasia of the brainstem, O... OMIM:213300
Narp Syndrome
Babinski sign, Progressive gait ataxia, Myoclonic spasms, Ataxia ORPHA:644
D-Glyceric Aciduria
Myoclonus, Spasticity, Chorea ORPHA:941
Bilateral Polymicrogyria
Cerebellar atrophy, Pseudobulbar paralysis, Spastic hemiparesis, Abnormal pyramidal sign, Cerebel... ORPHA:268940
Cntnap2-Related Developmental And Epileptic Encephalopathy
Cerebral palsy, Cerebellar vermis atrophy, Obesity, Lower limb spasticity, Ataxia, Abnormal neuro... ORPHA:163681
Combined Oxidative Phosphorylation Deficiency 14
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Myoclonus, Diffuse cerebral atro... OMIM:614946
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI OMIM:608629
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy, Ataxia ORPHA:927
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Chorea OMIM:616744
Hsd10 Disease, Infantile Type
Poor coordination, Loss of ambulation, Hyperkinetic movements, Dystonia, Spastic tetraparesis, Ch... ORPHA:391428
Alexander Disease Type Ii
Spasticity, Spastic paraparesis, Rigidity, Babinski sign, Ataxia, Palatal tremor ORPHA:363722
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
Autosomal Dominant Optic Atrophy And Cataract
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity... ORPHA:67036
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere... OMIM:610042
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance ORPHA:83629
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Tremor, Ataxia, Bradykinesia, Poor fine motor coordination ORPHA:36387
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Diffuse cerebellar atrophy, Cerebral atrophy, Dystonic gait, Corpus callosum atrophy, Limb hypert... ORPHA:480898
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy OMIM:613561
Leukodystrophy, Hypomyelinating, 12
Spasticity, Cerebellar atrophy OMIM:616683
Systemic Lupus Erythematosus 17
Chorea OMIM:301080
Mannosidosis, Alpha B, Lysosomal
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Babinski sig... OMIM:248500
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Inability to walk, Tremor, Hypertonia, Ataxia OMIM:619556
Crigler-Najjar Syndrome Type 1
Tremor ORPHA:79234
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis OMIM:618857
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Elevated circulating luteinizing hormone level, M... ORPHA:90793
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI OMIM:612285
Rett Syndrome, Congenital Variant
Spasticity, Chorea, Apraxia, Dystonia, Athetosis, Delayed myelination OMIM:613454
Slc35A2-Cdg
Cerebellar atrophy, Cerebral atrophy, Inability to walk, Failure to thrive in infancy, Atrophy/De... ORPHA:356961
Combined Oxidative Phosphorylation Deficiency 24
Neurodegeneration, Spasticity, Cerebellar atrophy, Neuronal loss in central nervous system OMIM:616239
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Spasticity, Cerebellar atrophy, Failure to thrive, Hypertonia ORPHA:544503
O'Sullivan-Mcleod Syndrome
Tremor, Fasciculations ORPHA:99965
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Ataxia ORPHA:42
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hypoesthesia, Hand paresthesia, Vocal cord paralysis OMIM:162500
Pelizaeus-Merzbacher Disease
Spasticity, Gait disturbance, Ataxia, Dystonia, Choreoathetosis ORPHA:702
Developmental And Epileptic Encephalopathy 95
Cerebral cortical atrophy, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Cerebell... OMIM:618143
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Ataxia OMIM:614299
Perry Syndrome
Parkinsonism, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Gait... ORPHA:411511
Multifocal Motor Neuropathy
Fasciculations ORPHA:641
Medulloblastoma
Dysmetria, Cerebellar calcifications, Hydrocephalus, Ataxia, Cerebellar ataxia associated with qu... ORPHA:616
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Inability to walk, Bruxism, Chorea, Motor stereotypy OMIM:618004
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Difficulty walking, Gait ataxia, Broad-based gait, Motor stereotypy OMIM:617807
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy ORPHA:276608
Horner Syndrome, Congenital
Paralysis OMIM:143000
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Spasticity, Myoclonus, Babinski sign, Ataxia, Truncal ataxia, Dystonia OMIM:252011
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Motor stereotypy, Hyperactivity, Ataxia ORPHA:530983
Riboflavin Transporter Deficiency
Hypogonadism, Myoclonus, Tremor, Ataxia ORPHA:97229
Developmental And Epileptic Encephalopathy 54
Myoclonus OMIM:617391
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperact... OMIM:300986
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Babinski sign, Chorea, Ataxia OMIM:604168
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Opisthotonus, Cerebellar atrophy OMIM:619685
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Cerebellar atrophy OMIM:301108
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Scissor gait, Spastic g... OMIM:619121
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Inability to walk, Hyperkinetic movements, Lower limb spasticity, Vocal cord ... OMIM:617799
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Intention tremor, Cerebellar atrophy, Dysdiadochokinesis, Ataxia OMIM:612780
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Postural tremor, Myoclonus, Babinski s... OMIM:301072
Early-Onset Autosomal Dominant Alzheimer Disease
Myoclonus, Parkinsonism, Oculomotor apraxia, Apraxia, Hypertonia, Ataxia, Abnormal social behavior ORPHA:1020
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal sensory impairment OMIM:607734
Spastic Paraplegia 9A, Autosomal Dominant
Spastic paraplegia, Impaired vibratory sensation, Resting tremor, Gait ataxia, Hoffmann sign, Bab... OMIM:601162
3-Methylglutaconic Aciduria, Type Viia
Cerebellar atrophy OMIM:619835
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Tetraparesis, Cerebral cortical neurodeg... OMIM:203700
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare... OMIM:105210
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy ORPHA:89844
Gaucher Disease, Type Iii
Spastic paraparesis, Myoclonus, Ataxia OMIM:231000
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Limb dystonia, Neuronal loss in central nervous system, Bra... OMIM:604377
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Motor stereotypy OMIM:613443
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy ORPHA:352447
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Frequent falls, Abnormality of visual evo... OMIM:617523
Lead Poisoning
Decreased male libido, Somatic sensory dysfunction, Abnormality of the menstrual cycle, Decreased... ORPHA:330015
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Encephalocele, Hydrocephalus, Molar to... OMIM:614424
Ritscher-Schinzel Syndrome 4
Chorea, Athetosis, Ataxia OMIM:619435
Developmental Delay, Dysmorphic Facies, And Brain Anomalies
Chorea OMIM:620535
Pontocerebellar Hypoplasia, Type 8
Involuntary movements, Spasticity, Chorea, Gait ataxia, Hypertonia OMIM:614961
Developmental And Epileptic Encephalopathy 29
Blepharospasm, Spasticity, Chorea OMIM:616339
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Myoclonus, Abnormality of extrapyramidal motor function OMIM:604218
Autism Spectrum Disorder Due To Auts2 Deficiency
Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperactivity, Compulsi... ORPHA:352490
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks ORPHA:2898
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Resting tremor, Akinesia, Rigidity, Parkinsonism, Parkinsonism with favorable res... ORPHA:411602
Leigh Syndrome
Spasticity, Involuntary movements, Leukodystrophy, Chorea, Abnormality of extrapyramidal motor fu... ORPHA:506
Pontocerebellar Hypoplasia, Type 7
Tongue fasciculations, Spasticity, Spastic paraplegia, Myoclonus, Opisthotonus, Oculomotor apraxi... OMIM:614969
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Lethargy, Ataxia OMIM:201100
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration, Olivopontocerebellar atrophy, Rigidity, Tremor, Babinski sign, Parkinsonism, A... OMIM:146500
Intellectual Developmental Disorder, Autosomal Dominant 45
Chorea, Myoclonus, Cerebral palsy OMIM:617600
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Motor stereotypy OMIM:619877
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Limb myoclonus, Difficulty walking, Inability to walk, Dysmetria, Hemiparesis,... ORPHA:139396
Combined Oxidative Phosphorylation Deficiency 52
Lethargy OMIM:619386
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Akinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor functi... OMIM:234200
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Truncal ataxia, Spasticity, Gait ataxia, Kinetic tremor OMIM:616817
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal brainstem ... ORPHA:370959
48,Xxyy Syndrome
Azoospermia, Attention deficit hyperactivity disorder, Ataxia, Infertility, Motor stereotypy, Hyp... ORPHA:10
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Recurrent otitis media, Male infertility OMIM:618948
Adult-Onset Distal Myopathy Due To Vcp Mutation
Fasciculations, Difficulty walking, Tremor, Parkinsonism, Frequent falls ORPHA:329478
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Spermatogenic Failure 28
Non-obstructive azoospermia, Male infertility OMIM:618086
Gm1-Gangliosidosis, Type Iii
Myoclonus, Dystonia, Slurred speech, Ataxia OMIM:230650
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Broad-based gait, Motor stereotypy OMIM:616351
Progressive Supranuclear Palsy
Blepharospasm, Falls, Tremor, Rigidity, Dystonia, Unsteady gait, Bradykinesia, Abnormal synaptic ... ORPHA:683
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cerebellar atrophy OMIM:618541
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction,... ORPHA:909
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Spasticity, Broad-based gait, Falls, Tip-toe gait, Cerebral palsy, Neurodegeneration, Spastic dip... OMIM:619475
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Short attention span, Recurrent ha... ORPHA:449291
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Stereotypical body rocking, Unsteady gait, Tongue thrusting, Hyperactivity, Ata... OMIM:617865
Combined Oxidative Phosphorylation Deficiency 51
Myoclonus, Rigidity OMIM:619057
Nipah Virus Disease
Myoclonus, Tremor ORPHA:99825
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Male infertility OMIM:300991
Fliedner-Zweier Syndrome
Obesity, Cerebellar atrophy, Hypertonia, Meningocele OMIM:620511
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Short attention span, Elevated circulating growth h... OMIM:608747
Cadds
Cerebellar atrophy ORPHA:369942
Argininemia
Spastic paraparesis, Cerebellar atrophy, Progressive spastic quadriplegia, Spastic gait, Frequent... OMIM:207800
Juvenile Myoclonic Epilepsy
Morning myoclonic jerks ORPHA:307
Joubert Syndrome 2
Dysgenesis of the cerebellar vermis, Hypoplasia of the brainstem, Brainstem dysplasia, Encephaloc... OMIM:608091
Japanese Encephalitis
Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu... ORPHA:79139
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy, Spastic ataxia OMIM:277410
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Hyperekplexia 4
Myoclonus, Hypertonia OMIM:618011
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Inability to walk, Bruxism, Chorea, Repetitive compulsive behavior, Dysphagia... OMIM:300260
Myopathy, Mitochondrial, And Ataxia
Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Tremor,... OMIM:617675
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Motor stereotypy ORPHA:411986
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Enlarged tectu... OMIM:618325
Leukodystrophy, Hypomyelinating, 10
Hyperkinetic movements, Babinski sign, Spasticity, Inability to walk OMIM:616420
Oculopharyngodistal Myopathy 4
Postural tremor, Tremor OMIM:619790
Metachromatic Leukodystrophy, Late Infantile Form
Spasticity, Tip-toe gait, Gait ataxia, Clumsiness, Babinski sign, Progressive gait ataxia, Decere... ORPHA:309256
Variegate Porphyria
Paralysis OMIM:176200
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Abnormal brainstem morphology, Attenti... ORPHA:8
Developmental And Epileptic Encephalopathy 84
Opisthotonus, Spasticity, Chorea, Babinski sign OMIM:618792
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Myoclonus, Babinski sign, Apraxia, Gait disturbance OMIM:221770
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Failure to thrive, Cogwheel rigidity, Gait ataxia, Tremor, Ri... ORPHA:254892
Hyperekplexia 2
Myoclonus, Hypertonia, Exaggerated startle response OMIM:614619
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Cerebellar hypoplasia, Cerebral cortical atrophy, Cerebellar atrophy OMIM:617763
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Hyperkinetic movements, Gait disturbance OMIM:620469
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Obsessive-compulsive trait, Aggressive behavior, Attention deficit hyperactiv... OMIM:618825
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Bruxism, Gait disturbance, Recurrent hand flapping, Agitation OMIM:617903
Brody Disease
Fasciculations OMIM:601003
Biotinidase Deficiency
Diffuse cerebellar atrophy, Diffuse cerebral atrophy, Ataxia OMIM:253260
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Ataxia OMIM:201470
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Cerebral atrophy OMIM:614857
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Gait disturbance, Hypertonia ORPHA:1192
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Compulsive behaviors, Attention deficit hyperactivity disorder, Recurrent hand flapping OMIM:620021
Slc39A8-Cdg
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Failure to thrive in infancy, D... ORPHA:468699
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Spastic paraparesis, Difficulty walking, Action tremor, Rigidity, Dystonia, Gait disturbance, Hyp... ORPHA:309854
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Cerebellar vermis atrophy, Dysmetria, Apraxia, Gait disturbance, Truncal obesit... OMIM:616541
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Spasticity, Chorea, Hypertonia, Exaggerated startle response, Spastic tetraplegia OMIM:617864
Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Leg dystonia, Limb dystonia, Intention tremor, Rigidity, Loss of ambula... ORPHA:157850
Metachromatic Leukodystrophy
Chorea, Babinski sign, Tetraplegia, Ataxia, Spastic tetraplegia OMIM:250100
Cutis Laxa, Autosomal Recessive, Type Iiia
Athetosis OMIM:219150
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619185
Rett Syndrome
Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wringing, Gait disturbance, Mo... ORPHA:778
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Inability to walk, Broad-based gait, Myoclonus OMIM:616158
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy OMIM:619064
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Arnold-Chiari Malformation Type I
Myelopathy, Somatic sensory dysfunction, Gait ataxia, Chiari type I malformation, Babinski sign, ... ORPHA:268882
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Fasciculations OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Fasciculations OMIM:616437
New-Onset Refractory Status Epilepticus
Abnormal head movements, Cerebellar edema ORPHA:363558
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Pain insensitivity, Stereotypical hand wringing, Skin-picking, Aggressiv... OMIM:600430
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Hyperactivity, Ataxia, Compulsive behaviors, Motor stereotypy OMIM:618430
Familial Cervical Artery Dissection
Paralysis, Paresthesia ORPHA:36382
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:620292
Ataxia-Telangiectasia
Dysdiadochokinesis, Inability to walk, Myoclonus, Intention tremor, Tremor, Abnormal spermatogene... OMIM:208900
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Gait imbalance, Tremor, Cerebellar ... OMIM:300966
Congenital Disorder Of Glycosylation, Type Il
Global brain atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy OMIM:608776
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Bruxism, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor ster... OMIM:618342
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Motor stereotypy OMIM:615637
Birk-Landau-Perez Syndrome
Difficulty walking, Limb ataxia, Oculomotor apraxia, Limb hypertonia, Dystonia, Choreoathetosis OMIM:617595
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased libido, Hypogonadotropic hypogonadism, Lethargy, Apathy, Amenorrhea, Testicular atrophy... ORPHA:465508
Sandifer Syndrome
Abnormal head movements, Torticollis ORPHA:71272
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Early Infantile Epileptic Encephalopathy
Spasticity, Cerebellar atrophy, Failure to thrive, Episodic ataxia, Myoclonus, Tremor, Diffuse ce... ORPHA:1934
Pontocerebellar Hypoplasia, Type 2A
Opisthotonus, Chorea, Extrapyramidal dyskinesia OMIM:277470
Posttransplant Acute Limbic Encephalitis
Dystonia, Myoclonus, Ataxia ORPHA:163921
Smith-Magenis Syndrome
Pain insensitivity, Head-banging, Impaired pain sensation, Onychotillomania, Self-mutilation, Hyp... OMIM:182290
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Spasticity, Intention tremor, Ataxia OMIM:117300
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Cerebellar h... OMIM:619306
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Spasticity, Cerebellar atrophy ORPHA:485421
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebral cortical atrophy, Cerebellar atrophy, Large for gestational age, Gait ataxia, Communicat... OMIM:617011
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy ORPHA:276556
Galloway-Mowat Syndrome 1
Spasticity, Small for gestational age, Cerebellar atrophy, Cerebral atrophy, Ataxia, Dystonia, Sp... OMIM:251300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Cerebellar atrophy, Failure to thrive, Dysmetria, Ataxia OMIM:616263
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Hippocampal atrophy, Limb hypertonia OMIM:618922
Glossopharyngeal Neuralgia
Chiari type I malformation, Weight loss, Dysesthesia, Vocal cord paralysis ORPHA:221098
Combined Oxidative Phosphorylation Deficiency 25
Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy OMIM:616430
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Metachromatic Leukodystrophy, Juvenile Form
Spasticity, Dystonia, Clumsiness, Babinski sign, Progressive gait ataxia, Decerebrate rigidity, F... ORPHA:309263
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia, Tremor OMIM:250800
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Unsteady gait, Broad-based gait OMIM:618205
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Spasticity, Cerebellar atrophy, Cerebral atrophy, Large for gestational age, Tremor, Choreoathetosis OMIM:614080
Schindler Disease, Type I
Spasticity, Myoclonus OMIM:609241
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, ... ORPHA:199351
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy OMIM:618232
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Spasticity, Athetosis, Spastic tetraplegia, Cerebral palsy OMIM:615474
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Chorea, Myoclonus, Action tremor, Dysmetria, Hyperkine... OMIM:615273
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy ORPHA:276575
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Spastic paraplegia, Athetosis, Cerebral palsy ORPHA:369929
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Athetosis, Delayed myelination OMIM:239300
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Premature ovarian insufficiency ORPHA:391307
Dilated Cardiomyopathy With Ataxia
Action tremor, Lower limb spasticity, Atrophy/Degeneration affecting the brainstem, Ataxia, Dystonia ORPHA:66634
Trichotillomania
Hair-pulling OMIM:613229
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy ORPHA:276580
Inverted Duplicated Chromosome 15 Syndrome
Hypogonadism, Aggressive behavior, Hyperactivity, Self-biting, Motor stereotypy ORPHA:3306
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Difficulty walking, Ataxia, Dystonia, Choreoathetosis OMIM:610978
Morgagni-Stewart-Morel Syndrome
Cerebral cortical atrophy, Brain atrophy, Action tremor ORPHA:77296
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon OMIM:601374
Spermatogenic Failure 13
Azoospermia, Male infertility OMIM:615841
Hypercalcemia, Infantile, 1
Lethargy OMIM:143880
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Gait ataxia, Lethargy, Chorea, Ataxia OMIM:618321
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Midline brainstem cleft, Hypoplasia of the pons OMIM:617542
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Pain insensitivity, Inability to walk by childhood/adolescence, Torticollis, Athetosis, Choreoath... OMIM:620224
Choreoacanthocytosis
Dystonia, Parkinsonism, Self-mutilation of tongue and lips due to involuntary movements, Progress... OMIM:200150
Insulinoma
Lethargy, Paresthesia, Abnormality of pain sensation ORPHA:97279
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy ORPHA:324575
Hyperekplexia 3
Myoclonus, Hypertonia, Exaggerated startle response OMIM:614618
Hyperkalemic Periodic Paralysis
Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Paresthesia, Gait disturbance, H... ORPHA:682
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Fetal Akinesia Deformation Sequence
Akinesia, Dandy-Walker malformation ORPHA:994
Joubert Syndrome 5
Occipital encephalocele, Aggressive behavior, Thickened superior cerebellar peduncle, Molar tooth... OMIM:610188
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Cerebellar atrophy, Cerebral atrophy OMIM:618659
Metachromatic Leukodystrophy, Adult Form
Spasticity, Difficulty walking, Chorea, Dystonia, Progressive spastic quadriplegia, Babinski sign... ORPHA:309271
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Motor stereotypy OMIM:618067
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Brain-Lung-Thyroid Syndrome
Involuntary movements, Falls, Incoordination, Chorea, Myoclonus, Intention tremor, Clumsiness, Ap... ORPHA:209905
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar hypopl... OMIM:618590
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Inability to walk, Truncal ataxia, Global brain atrophy, Cerebellar atrophy OMIM:620066
Hyperekplexia 1
Frequent falls, Myoclonus, Hypertonia, Exaggerated startle response OMIM:149400
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Spasticity, Hypoplasia of the pons, Myoclonus, Vocal cord paralysis, D... ORPHA:500144
Lesch-Nyhan Syndrome
Spasticity, Abnormality of extrapyramidal motor function, Opisthotonus, Testicular atrophy, Dysto... OMIM:300322
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor... OMIM:612716
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:619562
Developmental And Epileptic Encephalopathy 89
Spasticity, Cerebellar atrophy, Cerebral atrophy, Tetraparesis, Hyperkinetic movements, Hypertoni... OMIM:619124
Plaa-Associated Neurodevelopmental Disorder
Failure to thrive, Abnormality of extrapyramidal motor function, Rigidity, Progressive spastic qu... ORPHA:521426
Amyotrophic Lateral Sclerosis
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Neurodegeneration, Babinski sign, Cach... ORPHA:803
Evans Syndrome
Lethargy ORPHA:1959
Oculocerebral Hypopigmentation Syndrome, Cross Type
Spasticity, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia, Atheto... ORPHA:2719
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Cerebellar atrophy, Failure to thrive, Cerebral atrophy OMIM:614576
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Chorea, Myoclonus, Action tremor, Hyperkinetic movements, Oculomotor apraxia, ... ORPHA:404454
Isovaleric Acidemia
Lethargy OMIM:243500
Sandhoff Disease
Ataxia, Spasticity, Fasciculations, Impaired temperature sensation, Exaggerated startle response,... OMIM:268800
Glutaric Acidemia Type 3
Lethargy ORPHA:35706
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste... ORPHA:313892
Supranuclear Palsy, Progressive, 1
Falls, Akinesia, Gait imbalance, Retrocollis, Tremor, Rigidity, Parkinsonism, Bradykinesia, Eyeli... OMIM:601104
Coach Syndrome 1
Cerebellar vermis hypoplasia, Occipital encephalocele, Encephalocele, Molar tooth sign on MRI, Ap... OMIM:216360
Inclusion Body Myopathy And Brain White Matter Abnormalities
Babinski sign, Fasciculations OMIM:619733
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Spastic tetraplegia, Hypertonia OMIM:619147
Intellectual Developmental Disorder, X-Linked 98
Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Stereotypical hand wringin... OMIM:300912
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Gait... ORPHA:98794
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Cerebellar atrophy, Cerebral atrophy OMIM:616266
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI ORPHA:2318
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Myoclonus, Hypertonia OMIM:617290
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Cerebral palsy, Myoclonus, Limb dystonia, Opisthotonus, Babinski sign, Clonus, Hypert... OMIM:619847
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Cerebral cortical atrophy, Dysmetria, Cerebellar hypoplasia, Abnormal pyramidal sign, Uns... ORPHA:314647
Hypotonia, Ataxia, And Delayed Development Syndrome
Pain insensitivity, Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Speech ap... OMIM:617330
Takenouchi-Kosaki Syndrome
Cerebellar hypoplasia, Cerebral cortical atrophy, Cerebellar atrophy, Ataxia OMIM:616737
Infantile Liver Failure Syndrome 2
Lethargy OMIM:616483
Microtriplication 11Q24.1
Hyperkinetic movements, Speech apraxia ORPHA:289522
De Sanctis-Cacchione Syndrome
Spasticity, Leukodystrophy, Babinski sign, Scissor gait, Hypertonia, Ataxia, Choreoathetosis OMIM:278800
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebellar atrophy, Limb hypertonia, Cerebral atrophy OMIM:620306
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis, Amyotrophic lateral sclerosis, Difficulty walking, Distal sensory impairment,... ORPHA:600
Joubert Syndrome With Renal Defect
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI ORPHA:220497
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy OMIM:616393
Neurodevelopmental Disorder With Spasticity And Poor Growth
Spasticity, Generalized dystonia, Myoclonus, Cerebellar hypoplasia, Opisthotonus, Babinski sign, ... OMIM:618076
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620502
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy ORPHA:85277
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Spasticity, Myoclonus, Hemiplegia/hemiparesis, Abnormality of extrapyramidal motor function, Abno... ORPHA:79279
Nabais Sa-De Vries Syndrome, Type 2
Chorea, Hemiparesis OMIM:618829
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Gait ataxia, Motor stereotypy, Impaired pain sensation, Overfriendliness OMIM:616579
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Pica, Recurrent hand flapping, Unsteady gait OMIM:618480
Infantile Krabbe Disease
Hyperesthesia, Optic atrophy, Spasticity, Delayed brainstem auditory evoked response conduction t... ORPHA:206436
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia OMIM:618527
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Cerebellar cyst, Abnormal pons morphology, Abnormal brainstem morph... ORPHA:370997
Amish Nemaline Myopathy
Tremor ORPHA:98902
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar hypoplasia, Spasticity, Cerebellar atrophy, Failure to thrive OMIM:618329
Autosomal Dominant Spastic Paraplegia Type 9A
Falls, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Abnormal pyramidal... ORPHA:447753
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:620242
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Peho Syndrome
Cerebral cortical atrophy, Cerebellar atrophy, Hydrocephalus, Atrophy/Degeneration affecting the ... ORPHA:2836
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Chorea, Hyperkinetic movements, Ataxia, Dystonia, Athetoid cerebral palsy, Choreoa... ORPHA:522077
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Ataxia OMIM:619428
Mitochondrial Complex I Deficiency, Nuclear Type 18
Myoclonus, Hypertonia OMIM:618240
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Broad-based gait, Vocal cord paralysis, Axonal degeneration OMIM:615490
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Niemann-Pick Disease Type C
Cataplexy, Cerebral atrophy, Cerebellar vermis atrophy, Speech apraxia, Chorea, Myoclonus, Limb d... ORPHA:646
Rett Syndrome
Bruxism, Gait ataxia, Stereotypical hand wringing, Gait apraxia, Truncal ataxia OMIM:312750
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Lethargy, Episodic ataxia, Ataxia OMIM:311250
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Gait disturbance, Ataxia ORPHA:395
Tarp Syndrome
Athetosis, Neonatal death OMIM:311900
Xeroderma Pigmentosum, Complementation Group A
Spasticity, Choreoathetosis, Distal sensory impairment, Ataxia OMIM:278700
Dyskeratosis Congenita, Autosomal Recessive 8
Cerebellar atrophy OMIM:620133
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypo... ORPHA:444072
Carnitine Deficiency, Systemic Primary
Lethargy OMIM:212140
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Depression, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Mem... ORPHA:189427
Hemimegalencephaly
Myoclonus, Hemiparesis ORPHA:99802
Citrullinemia Type Ii
Memory impairment, Delayed menarche, Confusion, Abnormal eating behavior, Hyperlipidemia, Irritab... ORPHA:247585
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy ORPHA:2089
Radio-Tartaglia Syndrome
Gait imbalance, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia, Ataxia,... OMIM:619312
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy OMIM:611590
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Encephalocele, Self-mutilation ORPHA:314621
Citrullinemia, Classic
Lethargy, Ataxia OMIM:215700
Rheumatic Fever
Chorea, Hemiballismus, Fasciculations ORPHA:3099
Alazami Syndrome
Abnormal eating behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing ORPHA:319671
Mitochondrial Dna Depletion Syndrome 19
Spasticity, Myoclonus, Tetraparesis OMIM:618972
Transcobalamin Ii Deficiency
Lethargy, Ataxia OMIM:275350
Meningococcal Meningitis
Lethargy, Paresthesia ORPHA:33475
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal cerebellum morpholo... ORPHA:68
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Motor stereotypy, Hyperactivity, Self-mutilation OMIM:300486
Alternating Hemiplegia Of Childhood
Episodic hemiplegia, Tetraparesis, Chorea, Tremor, Rigidity, Abnormal pyramidal sign, Oculomotor ... ORPHA:2131
Sialidosis Type 1
Myoclonus, Tremor, Gait disturbance, Ataxia, Slurred speech ORPHA:812
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Failure to thrive OMIM:610131
Arima Syndrome
Cerebellar vermis hypoplasia, Polydipsia, Hypoplasia of the brainstem, Dilated fourth ventricle, ... OMIM:243910
Juvenile Sialidosis Type 2
Spasticity, Myoclonus, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia ORPHA:93399
Joubert Syndrome With Ocular Defect
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI ORPHA:220493
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy ORPHA:156
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Inability to walk, Bruxism OMIM:615716
Cri-Du-Chat Syndrome
Difficulty walking, Oppositional defiant disorder, Self-mutilation, Overfriendliness, Aggressive ... OMIM:123450
Severe Oculo-Renal-Cerebellar Syndrome
Spasticity, Choreoathetosis, Spastic diplegia ORPHA:2715
Pyridoxal Phosphate-Responsive Seizures
Unsteady gait, Myoclonus, Hypertonia ORPHA:79096
Intellectual Developmental Disorder, Autosomal Dominant 51
Fixated interests, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperactivity ... OMIM:617788
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination, Myoclonus, Hypertonia ORPHA:289266
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased circulating T4 concentratio... OMIM:609152
Chédiak-Higashi Syndrome
Spastic paraplegia, Cerebellar atrophy, Somatic sensory dysfunction, Inability to walk, Tremor, P... ORPHA:167
Ververi-Brady Syndrome
Unsteady gait, Intention tremor OMIM:617982
Developmental And Epileptic Encephalopathy 101
Opisthotonus, Myoclonus OMIM:619814
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617808
Sim1-Related Prader-Willi-Like Syndrome
Hypogonadism, Impaired temperature sensation, Hypogonadotropic hypogonadism, Lethargy, Primary am... ORPHA:398079
Cockayne Syndrome A
Irregular menstruation, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Hypogonadism, Tr... OMIM:216400
Joubert Syndrome 38
Cerebellar vermis hypoplasia, Inferior cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619476
Cerebellofaciodental Syndrome
Cerebellar hypoplasia, Aggressive behavior, Hypoplasia of the pons, Hypoplasia of the midbrain OMIM:616202
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Myoclonus, Rigidity OMIM:300673
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Dpagt1-Cdg
Inability to walk, Akinesia, Abnormal cerebellum morphology, Tremor, Cerebellar hypoplasia, Hyper... ORPHA:86309
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypertonia, Cerebral palsy, Sensorineural hearing impairment ORPHA:529808
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Gait ataxia, Myoclonus, Positive Romberg sign, Impaired distal prop... ORPHA:70595
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypertonia, Cerebral palsy, Sensorineural hearing impairment ORPHA:529799
Stiff-Person Syndrome
Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Frequent falls OMIM:184850
Hypokalemic Periodic Paralysis
Respiratory paralysis, Paralysis, Periodic hypokalemic paresis ORPHA:681
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618504
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior ORPHA:444002
Congenital Myopathy 12
Akinesia OMIM:612540
Unilateral Polymicrogyria
Involuntary movements, Abnormal posturing, Pseudobulbar paralysis, Myoclonus, Hemiparesis, Spasti... ORPHA:268943
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Dystonia, Paroxysmal dyskinesia, Choreoathetosis ORPHA:261197
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia ORPHA:208447
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Childhood Disintegrative Disorder
Motor stereotypy ORPHA:168782
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Tongue thrusting, Dysphagia, Gait imbalance ORPHA:98795
Propionic Acidemia
Lethargy OMIM:606054
Microcephaly, Amish Type
Myoclonus, Limb hypertonia OMIM:607196
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Occipital encephalocele, Abnor... ORPHA:397715
Mitochondrial Complex I Deficiency, Nuclear Type 1
Tongue fasciculations, Spasticity, Cerebellar atrophy, Failure to thrive, Babinski sign, Ataxia OMIM:252010
Congenital Myopathy 15
Vocal cord paralysis, Waddling gait OMIM:620161
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic paraparesis, Hearing impairment, Decreased nerve conduction velocity, Short-s... OMIM:609136
Arthrogryposis, Distal, Type 2A
Spina bifida occulta, Cerebellar atrophy, Small for gestational age, Failure to thrive OMIM:193700
Cystinosis
Polydipsia, Gait disturbance, Motor stereotypy ORPHA:213
Potocki-Lupski Syndrome
Motor stereotypy, Hyperactivity, Oral-pharyngeal dysphagia OMIM:610883
Gangliocytoma
Abnormal brainstem morphology, Polyphagia, Abnormal cerebellum morphology ORPHA:251937
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Chronic otitis media, Male infertility OMIM:612444
Tick-Borne Encephalitis
Tongue fasciculations, Abnormal medulla oblongata morphology, Somatic sensory dysfunction, Incoor... ORPHA:297
Familial Thyroid Dyshormonogenesis
Lethargy ORPHA:95716
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Failure to thrive, Cerebellar vermis atrophy, Cerebellar hypoplasia, Athetosi... OMIM:614866
Cockayne Syndrome Type 1
Optic atrophy, Male hypogonadism, Hearing impairment, Difficulty walking, Abnormality of peripher... ORPHA:90321
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Pseudohypoparathyroidism Type 2
Myoclonic spasms, Laryngeal dystonia ORPHA:94090
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Tip-toe gait ORPHA:746
Holoprosencephaly 14
Alobar holoprosencephaly, Cerebellar atrophy, Hydrocephalus, Partial absence of cerebellar vermis... OMIM:619895
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar vermis hypoplasia, Cerebellar atrophy, Cerebral atrophy, Failure to thrive in infancy,... OMIM:611209
Kufor-Rakeb Syndrome
Blepharospasm, Oculogyric crisis, Difficulty walking, Myoclonus, Rigidity, Babinski sign, Parkins... ORPHA:306674
Cutis Laxa, Autosomal Recessive, Type Iiib
Athetosis OMIM:614438
Smith-Magenis Syndrome
Self-injurious behavior, Impaired pain sensation, Attention deficit hyperactivity disorder, Gait ... ORPHA:819
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Fatal Familial Insomnia
Myoclonus, Ataxia OMIM:600072
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Periodic paralysis, Tremor OMIM:613239
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance... OMIM:300352
Alpha-Mannosidosis, Infantile Form
Spastic paraplegia, Cerebral cortical atrophy, Chiari malformation, Cerebellar atrophy, Clumsines... ORPHA:309282
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy OMIM:201450
Xeroderma Pigmentosum, Complementation Group D
Spasticity, Choreoathetosis, Ataxia OMIM:278730
Charcot-Marie-Tooth Disease Type 4B2
Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Distal sensory impairment, Trem... ORPHA:99956
Distal Xq28 Microduplication Syndrome
Tip-toe gait, Stereotypical body rocking, Aggressive behavior, Attention deficit hyperactivity di... ORPHA:293939
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Occipital meningocele, Hydrocephalus, ... OMIM:616546
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic gait, Impaired vibratory sensation, Lethargy, Progressive cerebellar ataxia ORPHA:415
Pettigrew Syndrome
Spasticity, Gait ataxia, Choreoathetosis OMIM:304340
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Depression ORPHA:99832
Poliomyelitis
Fasciculations, Inability to walk, Paresthesia, Hyperkinetic movements, Paralysis, Paraparesis ORPHA:2912
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Spasticity, Cerebellar atrophy, Hypertonia, Exaggerated startle response OMIM:618367
Galloway-Mowat Syndrome 3
Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy OMIM:617729
Angelman Syndrome
Self-injurious behavior, Broad-based gait, Inability to walk, Delayed menarche, Inappropriate lau... ORPHA:72
Coffin-Siris Syndrome 7
Compulsive behaviors, Severe temper tantrums, Motor stereotypy, Hyperactivity OMIM:618027
African Trypanosomiasis
Involuntary movements, Somatic sensory dysfunction, Fasciculations, Abnormal central motor functi... ORPHA:3385
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity... OMIM:617061
Neuraminidase Deficiency
Myoclonus, Dysmetria, Slurred speech OMIM:256550
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Cerebellar hypoplasia, ... ORPHA:468631
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Myoclonus, Gait ataxia, Dysmetria, Positive Romberg sign, Impaired distal propr... OMIM:607459
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
3-Hydroxy-3-Methylglutaric Aciduria
Lethargy, Apathy, Ataxia ORPHA:20
Myopathy, Myofibrillar, 2
Fasciculations OMIM:608810
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Upper motor neuron dysfunction, Waddling gait, Fasciculations ORPHA:52430
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Bruxism, Aggressive behavior, Tongue thrusting, Unstea... OMIM:606232
Methylcobalamin Deficiency Type Cble
Lethargy ORPHA:2169
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor st... ORPHA:488618
De Barsy Syndrome
Athetosis, Progressive cerebellar ataxia ORPHA:2962
White-Sutton Syndrome
Cerebral cortical atrophy, Cerebellar atrophy, Hypoplasia of the pons, Incoordination, Obesity, S... ORPHA:468678
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Aggressive behavior, Ataxia, Unsteady gait, Motor stereotypy ORPHA:457279
Isolated Complex I Deficiency
Lethargy, Ataxia ORPHA:2609
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy OMIM:619103
Mcleod Syndrome
Chorea, Impaired vibration sensation at ankles OMIM:300842
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ... ORPHA:261529
Scrub Typhus
Lethargy ORPHA:83317
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Comp... ORPHA:476126
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Myoclonus, Ataxia OMIM:560000
Young-Onset Parkinson Disease
Spasticity, Bradykinesia, Gait imbalance, Tremor, Rigidity, Dystonia ORPHA:2828
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Impulsivity OMIM:618914
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy OMIM:210200
N-Acetylglutamate Synthase Deficiency
Lethargy OMIM:237310
Van Esch-O'Driscoll Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Unilateral vocal cord paralysis, Hypogonadotrop... OMIM:301030
Argininosuccinic Aciduria
Lethargy, Ataxia OMIM:207900
Tetanus
Tremor, Rigidity, Opisthotonus, Spasticity of pharyngeal muscles, Hypertonia ORPHA:3299
Neurogenic Arthrogryposis Multiplex Congenita
Fasciculations ORPHA:1143
Biotinidase Deficiency
Lethargy, Ataxia ORPHA:79241
Chromosome 15Q11.2 Deletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:615656
Knobloch Syndrome 1
Cerebellar atrophy, Occipital encephalocele, Cerebral atrophy, Ataxia, Spina bifida occulta, Occi... OMIM:267750
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Recurrent otitis media, Male infertility OMIM:619607
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia ORPHA:1578
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff... ORPHA:90796
Multiple Mitochondrial Dysfunctions Syndrome 1
Lethargy OMIM:605711
Alexander Disease
Spasticity, Chorea, Tremor, Abnormal pyramidal sign, Clonus, Tetraplegia, Ataxia ORPHA:58
Dengue Fever
Lethargy ORPHA:99828
Dihydropyrimidinase Deficiency
Lethargy OMIM:222748
Magel2-Related Prader-Willi-Like Syndrome
Hypogonadism, Impaired temperature sensation, Lethargy, Primary amenorrhea, Infertility ORPHA:398069
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Cerebral atrophy, Tetraparesis, Dystonia, Lower limb spasticity, Limb hyperto... OMIM:615846
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Cerebellar hypoplasia, Molar tooth sign on MRI, Stillbirth, Dandy-Walker malformation OMIM:616300
Pseudo-Torch Syndrome 2
Lethargy OMIM:617397
Gaucher Disease, Perinatal Lethal
Opisthotonus, Akinesia OMIM:608013
Lathosterolosis
Chiari malformation, Failure to thrive, Myoclonus, Cerebellar cortical atrophy, Meningocele ORPHA:46059
4Q21 Microdeletion Syndrome
Self-injurious behavior, Motor stereotypy ORPHA:238750
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Lethargy ORPHA:263455
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Frequent falls, Intention tremor, Ankle clonus OMIM:619995
Houge-Janssens Syndrome 3
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618354
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Ataxia OMIM:124000
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Spastic tetraparesis, Myoclonus, Hypertonia ORPHA:284417
Developmental And Epileptic Encephalopathy 100
Chorea, Gait ataxia, Myoclonus, Delayed CNS myelination, Choreoathetosis OMIM:619777
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy OMIM:201475
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy ORPHA:397612
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Low-set ears, Hair-pulling, Protruding ear, Lower limb spasticity, Clonus, Hypertonia, Myoclonic ... ORPHA:447997
Monosomy 18Q
Poor coordination, Abnormal myelination, Choreoathetosis ORPHA:1600
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia ORPHA:435638
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:99819
Cockayne Syndrome
Spasticity, Cerebellar dentate nucleus calcification, Cerebellar atrophy, Somatic sensory dysfunc... ORPHA:191
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy ORPHA:529965
Snakebite Envenomation
Respiratory paralysis, Paralysis, Pseudobulbar paralysis ORPHA:449285
Combined Oxidative Phosphorylation Deficiency 11
Lethargy OMIM:614922
Fructose-1,6-Bisphosphatase Deficiency
Lethargy OMIM:229700
Postpoliomyelitis Syndrome
Fasciculations ORPHA:2942
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy OMIM:251000
Chromosome 18Q Deletion Syndrome
Chorea, Poor coordination, Tremor OMIM:601808
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Hyperactivity OMIM:617751
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination ORPHA:352682
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Athetosis, Delayed myelination, Tremor ORPHA:280633
Trichothiodystrophy
Diffuse cerebellar atrophy, Cerebral cortical atrophy, Spasticity, Gait ataxia, Paraplegia/parapa... ORPHA:33364
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Elevated circulating luteinizing hormo... ORPHA:95699
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Motor stereotypy, Compulsive behaviors OMIM:613174
Staphylococcal Necrotizing Pneumonia
Lethargy ORPHA:36238
Intellectual Developmental Disorder, Autosomal Dominant 52
Pica, Motor stereotypy, Obsessive-compulsive trait, Hyperactivity OMIM:617796
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy OMIM:212138
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Dysphagia ORPHA:572013
Myoclonic Epilepsy Of Lafora 1
Apraxia, Gait disturbance, Myoclonus OMIM:254780
Metachromatic Leukodystrophy
Tip-toe gait, Incoordination, Tremor, Dystonia, Gait disturbance, Ataxia, Decerebrate rigidity, P... ORPHA:512
Congenital Disorder Of Glycosylation, Type Iia
Self-mutilation, Stereotypical hand wringing, Aggressive behavior, Unsteady gait, Motor stereotypy OMIM:212066
Congenital Disorder Of Glycosylation, Type Ig
Lethargy OMIM:607143
Developmental And Epileptic Encephalopathy 31B
Involuntary movements, Myoclonus, Appendicular spasticity, Opisthotonus, Clonus OMIM:620352
Carnitine Palmitoyltransferase I Deficiency
Lethargy OMIM:255120
White-Sutton Syndrome
Self-injurious behavior, Overfriendliness, Aggressive behavior, Hyperactivity, Tics, Motor stereo... OMIM:616364
Congenital Disorder Of Glycosylation, Type Iie
Cerebellar atrophy, Failure to thrive, Cerebral atrophy OMIM:608779
Full Schwannomatosis
Hypoesthesia, Paresthesia, Fasciculations ORPHA:93921
Mucopolysaccharidosis, Type Iiid
Difficulty walking, Cerebellar atrophy OMIM:252940
Gitelman Syndrome
Paralysis, Paresthesia, Failure to thrive, Ataxia OMIM:263800
Den Hoed-De Boer-Voisin Syndrome
Inability to walk, Stereotypical hand wringing, Dysphagia, Ataxia, Motor stereotypy, Agitation OMIM:619229
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Ataxia ORPHA:2479
Blepharophimosis-Impaired Intellectual Development Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Overfriendliness OMIM:619293
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:424
Developmental And Epileptic Encephalopathy 2
Inability to walk, Motor stereotypy OMIM:300672
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:230800
22Q11.2 Duplication Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:1727
Sandhoff Disease, Infantile Form
Spasticity, Myoclonus, Exaggerated startle response ORPHA:309155
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Intention tremor OMIM:618381
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy OMIM:609015
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Polydipsia, Abnormality of circulating cortisol level, D... ORPHA:320
9Q33.3Q34.11 Microdeletion Syndrome
Cerebellar vermis atrophy, Spastic tetraparesis, Inability to walk ORPHA:495818
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
Cirrhosis, Familial
Lethargy OMIM:215600
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Motor stereotypy, Inability to walk ORPHA:457351
Arthrogryposis Multiplex Congenita 5
Dystonia, Akinesia, Hypertonia, Hand tremor OMIM:618947
Niemann-Pick Disease, Type C2
Motor stereotypy, Dysphagia, Ataxia OMIM:607625
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus ORPHA:168593
Vici Syndrome
Cerebellar vermis hypoplasia, Abnormal posturing OMIM:242840
Hydroxykynureninuria
Motor stereotypy ORPHA:79155
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Myoclonus, Hyperkinetic movements, Dystonia, Hypertonia, Unsteady gait, Choreoathetosis ORPHA:17
Bilateral Perisylvian Polymicrogyria
Cerebellar vermis hypoplasia, Spasticity, Oromotor apraxia, Pseudobulbar paralysis, Cerebellar dy... ORPHA:98889
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy ORPHA:500159
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus ORPHA:2720
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy OMIM:608836
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Self-injurious behavior, Polydipsia, Polyphagia, Aggressive behavio... ORPHA:293987
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy ORPHA:159
X-Linked Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Obesity, Gait disturbance, Vocal cord paralysis, Waddling gait ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Obesity, Gait disturbance, Vocal cord paralysis, Waddling gait ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Obesity, Gait disturbance, Vocal cord paralysis, Waddling gait ORPHA:98853
Woodhouse-Sakati Syndrome
Abnormality of extrapyramidal motor function, Hypogonadotropic hypogonadism, Premature ovarian in... OMIM:241080
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:98784
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis, Paresthesia OMIM:176000
Serotonin Syndrome
Myoclonus, Tremor, Rigidity, Clonus, Hypertonia ORPHA:43116
Holocarboxylase Synthetase Deficiency
Lethargy OMIM:253270
Pediatric-Onset Graves Disease
Hyperkinetic movements, Tremor ORPHA:525731
Skin Creases, Congenital Symmetric Circumferential, 1
Cerebellar vermis atrophy, Dandy-Walker malformation OMIM:156610
Necrotizing Enterocolitis
Lethargy ORPHA:391673
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Spastic ataxia, Motor stereotypy ORPHA:300570
D-Glyceric Aciduria
Spasticity, Myoclonus, Appendicular spasticity, Opisthotonus, Spastic tetraplegia OMIM:220120
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Intention tremor, Tremor, Ataxia OMIM:614052
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Myoclonus, Appendicular spasticity OMIM:617669
Sialuria
Hyperkinetic movements ORPHA:3166
Mitochondrial Dna-Associated Leigh Syndrome
Spasticity, Chorea, Gait ataxia, Hypertonia, Ataxia ORPHA:255210
Whipple Disease
Abnormal pyramidal sign, Myoclonus, Erectile dysfunction, Ataxia ORPHA:3452
Late-Onset Isolated Acth Deficiency
Premature ovarian insufficiency, Lethargy ORPHA:199299
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dystonia, Myoclonus, Ataxia OMIM:619167
Renal Hypoplasia, Bilateral
Lethargy ORPHA:97362
Pseudohypoparathyroidism Type 1A
Involuntary movements, Laryngeal dystonia, Paresthesia, Oligomenorrhea, Myoclonic spasms, Choreoa... ORPHA:79443
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Molar tooth sign on MRI ORPHA:2754
Spondyloenchondrodysplasia
Spasticity, Chorea ORPHA:1855
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Periodic paralysis OMIM:188580
Catastrophic Antiphospholipid Syndrome
Chorea ORPHA:464343
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis ORPHA:83601
Congenital Sialidosis Type 2
Spasticity, Myoclonus, Dysmetria, Ataxia ORPHA:93400
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Occipital meningocele, Molar tooth sign on MRI OMIM:277170
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:26793
Neuroblastoma, Susceptibility To, 1
Myoclonus, Ataxia OMIM:256700
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Spasticity, Cerebellar atrophy, Facial paralysis, Tetraparesis, Hemiplegia, Limb dystonia, Hemipa... OMIM:175780
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy OMIM:277380
Ebola Hemorrhagic Fever
Lethargy ORPHA:319218
Genetic Transient Congenital Hypothyroidism
Lethargy ORPHA:226316
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:71212
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spastic paraplegia, Broad-based gait, Azoospermia, Limb ataxia, Paralysis, Cachexia, Oculomotor a... ORPHA:2072
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
D-Bifunctional Protein Deficiency
Corpus callosum atrophy, Cerebellar atrophy, Failure to thrive OMIM:261515
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy ORPHA:79284
Methylmalonic Aciduria, Cblb Type
Lethargy OMIM:251110
Encephalitis Lethargica
Lethargy ORPHA:83600
Scorpion Envenomation
Priapism, Hemifacial spasm, Paresthesia, Myoclonus, Tremor, Hyperkinetic movements, Ataxia ORPHA:466677
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Dysgenesis of the cerebellar vermis, Molar tooth sign on MRI OMIM:619479
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620073
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:228371
Glioblastoma
Paralysis ORPHA:360
Severe X-Linked Intellectual Disability, Gustavson Type
Spasticity, Myoclonus, Hypertonia ORPHA:3078
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Ataxia ORPHA:79282
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Obesity, Tremor, Respiratory paralysis, Paralysis, Weight loss, Tet... ORPHA:79102
Bainbridge-Ropers Syndrome
Self-injurious behavior, Motor stereotypy, Recurrent hand flapping, Inability to walk OMIM:615485
Methylmalonic Aciduria, Cbla Type
Lethargy OMIM:251100
Hyperglycinemia, Lactic Acidosis, And Seizures
Myoclonus, Spastic tetraplegia OMIM:614462
Familial Hypoaldosteronism
Lethargy ORPHA:427
Developmental And Epileptic Encephalopathy 49
Spasticity, Myoclonus, Facial-lingual fasciculations, Spastic tetraplegia, Exaggerated startle re... OMIM:617281
Opsoclonus-Myoclonus Syndrome
Rigidity, Myoclonus, Limb myoclonus, Ataxia ORPHA:1183
Immunodeficiency 23
Cortical myoclonus, Myoclonus, Somatic sensory dysfunction, Ataxia OMIM:615816
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Pontocerebellar atrophy, Decreased body weight ORPHA:258
Pitt-Hopkins Syndrome
Self-injurious behavior, Gait ataxia, Motor stereotypy OMIM:610954
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy OMIM:210210
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Lethargy OMIM:620233
Nmda Receptor Encephalitis
Involuntary movements, Oculogyric crisis, Chorea, Myoclonus, Rigidity, Opisthotonus, Dystonia, Ch... ORPHA:217253
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsiv... OMIM:620494
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy ORPHA:90673
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Male infertility OMIM:614935
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity ORPHA:88619
Woodhouse-Sakati Syndrome
Hypogonadism, Streak ovary, Abnormal spermatogenesis, Premature ovarian insufficiency, Dystonia, ... ORPHA:3464
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Depression ORPHA:90674
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Dysmetria, Aggressive behavior, Polyphagia, Hyperactivity, Collectionism... ORPHA:96121
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy OMIM:615751
Lafora Disease
Spasticity, Inability to walk, Myoclonus, Gait disturbance, Ataxia, Erratic myoclonus ORPHA:501
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Jerky head movements ORPHA:369837
Encephalocraniocutaneous Lipomatosis
Cerebral cortical atrophy, Spasticity, Cerebral atrophy, Hemiplegia, Rigidity, Hemiparesis, Paral... ORPHA:2396
Alg9-Cdg
Cerebellar atrophy, Cerebral atrophy, Lower limb spasticity, Hypoplasia of the ovary, Torticollis ORPHA:79328
Kleefstra Syndrome 1
Compulsive behaviors, Aggressive behavior, Motor stereotypy OMIM:610253
Hallermann-Streiff Syndrome
Choreoathetosis OMIM:234100
Rauch-Steindl Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619695
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Chorea ORPHA:268
2Q37 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:1001
Cholera
Lethargy ORPHA:173
Neuroleptic Malignant Syndrome
Extrapyramidal muscular rigidity, Chorea, Tremor ORPHA:94093
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy ORPHA:261144
Trichinellosis
Lethargy, Apathy ORPHA:863
Neuroblastoma
Antalgic gait, Myoclonus, Ataxia ORPHA:635
Combined Oxidative Phosphorylation Deficiency 57
Dystonia, Myoclonus OMIM:620167
Hyperphosphatasia-Intellectual Disability Syndrome
Gait disturbance, Oculomotor apraxia, Myoclonus, Ataxia ORPHA:247262
Posterior Urethral Valve
Lethargy ORPHA:93110
Trisomy 10P
Low-set ears, Poor motor coordination, Abnormal auditory evoked potentials, EEG with burst suppre... ORPHA:171929
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Meckel Syndrome, Type 1
Chiari malformation, Occipital encephalocele, Dilated fourth ventricle, Cerebellar hypoplasia, Hy... OMIM:249000
Cowden Syndrome 1
Dysplastic gangliocytoma of the cerebellum, Intention tremor OMIM:158350
Glycine Encephalopathy
Lethargy ORPHA:407
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Positive Romberg sign, Intention tremor, Ataxia ORPHA:221139
Glucocorticoid Deficiency 2
Spastic tetraparesis, Myoclonus OMIM:607398
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Inappropriate laughter, Motor stereotypy OMIM:615802
Semilobar Holoprosencephaly
Inability to walk, Depression, Lethargy, Apathy ORPHA:220386
Multiple Mitochondrial Dysfunctions Syndrome 7
Lethargy OMIM:620423
Alobar Holoprosencephaly
Inability to walk, Depression, Lethargy, Apathy ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Inability to walk, Depression, Lethargy, Apathy ORPHA:93926
Lobar Holoprosencephaly
Inability to walk, Depression, Lethargy, Apathy ORPHA:93924
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Cerebellar dysplasia, Cerebellar atrophy, Dandy-Walker malformation ORPHA:487796
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Gait ataxia, Dysmetria, Aggressive behavior, Attention deficit hyperactivity di... OMIM:614756
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Tremor, ... OMIM:133540
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination, Oculomotor apraxia ORPHA:67045
Tsh-Secreting Pituitary Adenoma
Irregular menstruation, Male hypogonadism, Periodic hypokalemic paresis, Abnormality of the menst... ORPHA:91347
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... ORPHA:79330
Orofaciodigital Syndrome Type 3
Spasticity, Oculomotor apraxia, Myoclonus ORPHA:2752
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy OMIM:277400
Microcephalic osteodysplastic primordial dwarfism, type III
Cerebellar atrophy OMIM:210730
Kleefstra Syndrome
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Self-mutilation ORPHA:261494
Holoprosencephaly
Spasticity, Chorea ORPHA:2162
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Skin-picking, Attention deficit hyperactivity disorder, H... ORPHA:177907
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cerebellar cortical atrophy, Hypoplasia of the ovary, Hydrocephalus, Abdominal obesity OMIM:619321
Hereditary Fructose Intolerance
Lethargy ORPHA:469
Complete Atrioventricular Septal Defect
Lethargy ORPHA:1329
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Head-banging, Frequent temper tantrums, Attention deficit hyperactivity ... OMIM:619575
Inhalational Botulism
Paralysis ORPHA:254504
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Menkes Disease
Spasticity, Chorea, Hypertonia ORPHA:565
Monosomy 22Q13.3
Cerebellar cortical atrophy, Obesity, Impaired pain sensation ORPHA:48652
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Exercise-Induced Malignant Hyperthermia
Lethargy, Ataxia ORPHA:466650
Orofaciodigital Syndrome Iii
Myoclonus OMIM:258850
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Barth Syndrome
Gait disturbance, Macrotia, Abnormal mitochondrial morphology OMIM:302060
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Pain insensitivity, Broad-based gait, Fixated interests, Hair-pulling, P... OMIM:620330
Smith-Lemli-Opitz Syndrome
Global brain atrophy, Cerebellar atrophy, Failure to thrive, Chiari type I malformation, Diffuse ... OMIM:270400
Heterotaxy, Visceral, 5, Autosomal
Cerebellar hypoplasia, Cerebellar atrophy, Cerebral atrophy OMIM:270100
Cockayne Syndrome Type 3
Cerebellar dentate nucleus calcification, Difficulty walking, Intention tremor, Unsteady gait, Br... ORPHA:90324
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Occipital encephalocele, Cerebellar hypoplasia, Molar tooth sign on... OMIM:615948
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic paralysis, Periodic hypokalemic paresis ORPHA:37553
9P13 Microdeletion Syndrome
Myoclonus, Hand tremor ORPHA:324313
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Stereotypical body rocking, Gait ataxia, Repetitive compulsive behavior, Motor ... ORPHA:513456
Intellectual Developmental Disorder, Autosomal Dominant 73
Cerebellar vermis hypoplasia, Spasticity, Tip-toe gait, Cerebellar vermis atrophy, Apraxia OMIM:620450
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Melas
Abnormal central motor function, Myoclonus, Hemiparesis, Hypogonadotropic hypogonadism, Gait dist... ORPHA:550
Marbach-Rustad Progeroid Syndrome
Intention tremor OMIM:619322
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Motor stereotypy ORPHA:508533
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Attention deficit hyperactivity disorder, Motor stereotypy, Impaired pain sensation, Self-mutilation OMIM:619005
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Cowden Syndrome 5
Intention tremor OMIM:615108
Carney Complex
Precocious puberty, Leydig cell neoplasia, Abnormal sperm motility, Sertoli cell neoplasm, Abnorm... ORPHA:1359
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Epididymal cyst, Reduced sperm motility, Hypoplasia of the uterus, Bicornua... OMIM:137920
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Lethargy OMIM:617156
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Attention deficit hyperactivity disorder, Gait disturbance, Motor stereotypy ORPHA:464311
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Lethargy ORPHA:226307
Cowden Syndrome 6
Intention tremor OMIM:615109
Nephronophthisis-Like Nephropathy 1
Kinetic tremor OMIM:613159
Wilson Disease
Face of the giant panda sign, Dysphagia OMIM:277900
Pearson Marrow-Pancreas Syndrome
Lethargy OMIM:557000
Fg Syndrome Type 1
Broad-based gait, Abnormal social behavior ORPHA:93932
Multiple Endocrine Neoplasia Type 1
Depression, Decreased male libido, Amenorrhea, Lethargy, Impotence ORPHA:652
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Myoclonic spasms ORPHA:73224
Histiocytoid Cardiomyopathy
Lethargy ORPHA:137675
Wiedemann-Rautenstrauch Syndrome
Spasticity, Action tremor, Tremor, Cerebellar hypoplasia, Chiari type I malformation, Limb hypert... ORPHA:3455
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Motor stereotypy, Hyperactivity ORPHA:464306
Histidinemia
Hyperactivity ORPHA:2157
Hydranencephaly
Lethargy ORPHA:2177
Ciliary Dyskinesia, Primary, 1
Conductive hearing impairment, Chronic otitis media, Male infertility OMIM:244400
Neutral Lipid Storage Disease With Myopathy
Difficulty walking, Fasciculations OMIM:610717
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Lower limb spasticity, Intention tremor OMIM:620029
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Gait disturbance, Intention tremor OMIM:213980
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Motor stereotypy OMIM:618653
48,Xxxy Syndrome
Abnormal social behavior, Tremor ORPHA:96263
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Frequent temper tantrums, Hyperactivity, Compulsive behaviors, Motor ste... OMIM:619512
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Myoclonus, Clonus, Spastic tetraplegia OMIM:619055
Marburg Hemorrhagic Fever
Lethargy, Dysesthesia, Orchitis ORPHA:99826
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Motor stereotypy OMIM:616682
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Molar tooth sign on MRI, Dandy-Walker malformation ORPHA:434179
Rift Valley Fever
Paralysis, Decerebrate rigidity, Paraparesis, Hemiparesis ORPHA:319251
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Pseudobulbar paralysis, Speech apraxia, Cerebellar hypoplasia, Chiari type I malformation, Ataxia... ORPHA:466791
Pgm3-Cdg
Cortical myoclonus, Myoclonus, Ataxia ORPHA:443811
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Limb hypertonia ORPHA:401973
X-Linked Intellectual Disability, Snyder Type
Involuntary movements, Inability to walk, Myoclonus, Testicular atrophy, Unsteady gait ORPHA:3063
Wiedemann-Steiner Syndrome
Aggressive behavior, Motor stereotypy, Dysphagia, Hyperactivity ORPHA:319182
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Myoclonus ORPHA:1352
Intellectual Developmental Disorder, Autosomal Dominant 42
Cerebral palsy, Inability to walk, Hemiplegia, Limb dystonia, Myoclonus, Limb hypertonia, Dystonia OMIM:616973
Glycerol Kinase Deficiency
Lethargy OMIM:307030
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic paralysis, Periodic hypokalemic paresis OMIM:170390
Fabry Disease
Paresthesia, Fasciculations OMIM:301500
Pineoblastoma
Lethargy ORPHA:251909
Ethylene Glycol Poisoning
Myoclonus, Slurred speech, Ataxia ORPHA:31826
Helsmoortel-Van Der Aa Syndrome
Bruxism, Polyphagia, Attention deficit hyperactivity disorder, Dysphagia, Hyperactivity, Compulsi... OMIM:615873
Primary Sjögren Syndrome
Chorea, Somatic sensory dysfunction ORPHA:289390
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy OMIM:218700
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Motor stereotypy OMIM:301040
Diamond-Blackfan Anemia
Lethargy ORPHA:124
Lysinuric Protein Intolerance
Lethargy ORPHA:470
Kinsship Syndrome
Bruxism, Motor stereotypy OMIM:619297
Cornelia De Lange Syndrome 6
Low-set ears, Posteriorly rotated ears, Macrotia, Hair-pulling OMIM:620568
Gitelman Syndrome
Paralysis, Paresthesia, Failure to thrive ORPHA:358
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior, Hypertonia ORPHA:1675
1P36 Deletion Syndrome
Self-injurious behavior, Hypogonadism, Polyphagia, Gait disturbance, Dysphagia, Motor stereotypy ORPHA:1606
Brucellosis
Chorea ORPHA:1304
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Oppositional defiant disorder, Aggressive behavior, Hyperactivity, Moto... ORPHA:580
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Spasticity, Spastic tetraparesis, Inability to walk, Limb hypertonia, Abnormal CNS myelination, D... OMIM:620371
Distal Renal Tubular Acidosis
Paralysis, Failure to thrive ORPHA:18
Partial Androgen Insensitivity Syndrome
Azoospermia, Male sexual dysfunction, Male infertility, Primary amenorrhea ORPHA:90797
Fructose Intolerance, Hereditary
Lethargy OMIM:229600
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Aggressive behavior, Motor stereotypy OMIM:301066
Arboleda-Tham Syndrome
Gait imbalance, Motor stereotypy, Dysphagia OMIM:616268
Cancer-Associated Retinopathy
Diffuse cerebellar atrophy ORPHA:71505
Listeriosis
Somatic sensory dysfunction, Myoclonus, Tremor, Hemiparesis, Ataxia ORPHA:533
Systemic Lupus Erythematosus
Chorea ORPHA:536
Neutral Lipid Storage Myopathy
Difficulty walking, Fasciculations ORPHA:98908
Wiedemann-Rautenstrauch Syndrome
Chiari malformation, Hydrocephalus, Hypertonia, Truncal ataxia, Intention tremor, Dandy-Walker ma... OMIM:264090
Paroxysmal Nocturnal Hemoglobinuria
Lethargy, Impotence ORPHA:447
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Azoospermia, Attention deficit hyperactivity disorder, Compulsive behavi... ORPHA:534
Pontocerebellar Hypoplasia Type 7
Involuntary movements, Spasticity, Fasciculations, Myoclonus, Hypertonia ORPHA:284339
Aromatase Deficiency
Female infertility, Hypergonadotropic hypogonadism, Male infertility, Primary amenorrhea ORPHA:91
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Aggressive behavior, Hyperactivity, Comp... ORPHA:353281
Coccidioidomycosis
Abnormality of the female genitalia, Abnormal sperm morphology, Abnormality of the male genitalia ORPHA:228123
Primrose Syndrome
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Ataxia, T... OMIM:259050
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy ORPHA:508498
Ogden Syndrome
Motor stereotypy, Dysphagia OMIM:300855
Tyrosinemia, Type I
Periodic paralysis, Failure to thrive OMIM:276700
Eisenmenger Syndrome
Lethargy ORPHA:97214
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Motor stereotypy, Hyperactivity OMIM:309590
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Aggressive behavior, Hyperactivity, Comp... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Aggressive behavior, Hyperactivity, Comp... ORPHA:353277
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Inappropriate laughter, Abnormal social behavior, Overfriendliness ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Inappropriate laughter, Abnormal social behavior, Overfriendliness ORPHA:363958
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Involuntary movements, Broad-based gait, Inability to walk, Myoclonus, Exaggerated startle respon... ORPHA:438213
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Motor stereotypy OMIM:301044
Mowat-Wilson Syndrome
Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Chordee, Oligomenorrhea, D... ORPHA:2152
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Motor stereotypy OMIM:612474
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Chordee, Motor stereotypy, Dysphagia OMIM:619522
Williams Syndrome
Involuntary movements, Spasticity, Gait imbalance, Dysmetria, Tremor, Abnormality of extrapyramid... ORPHA:904
Norrie Disease
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Erectile dys... ORPHA:649
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Chordee, Dysphagia, Motor ... ORPHA:261537
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Degcags Syndrome
Chordee, Abnormal myelination, Vocal cord paralysis OMIM:619488
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Motor stereotypy OMIM:309000
Coffin-Siris Syndrome 12
Motor stereotypy OMIM:619325
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Chordee, Dysphagia, Motor ... ORPHA:261552
Wolf-Hirschhorn Syndrome
Motor stereotypy OMIM:194190
Crimean-Congo Hemorrhagic Fever
Orchitis, Fasciculations ORPHA:99827
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805

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 Grid2

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 Grid2.

No publications found that use IMPC mice or data for Grid2.

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
Grid2tm368919(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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