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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
Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy ORPHA:363432
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... 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
Episodic ataxia, Nystagmus, Abnormality of eye movement ORPHA:1179
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Nystagmus 3, Congenital, Autosomal Dominant
Horizontal jerk nystagmus OMIM:608345
Nystagmus 8, Congenital, Autosomal Recessive
Congenital nystagmus, Nystagmus OMIM:257400
Spinocerebellar Ataxia Type 5
Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance ORPHA:98766
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... OMIM:615268
Ataxia, Sensory, 1, Autosomal Dominant
Babinski sign, Positive Romberg sign, Gait instability, worse in the dark, Sensory ataxia OMIM:608984
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia OMIM:616042
Episodic Ataxia Type 5
Gaze-evoked nystagmus, Ataxia, Truncal ataxia ORPHA:211067
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis OMIM:605388
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Spinocerebellar Ataxia Type 30
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia ORPHA:211017
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... 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
Lower limb spasticity, Babinski sign, Impaired vibration sensation in the lower limbs, Ankle clon... ORPHA:171607
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Episodic Kinesigenic Dyskinesia 2
Chorea, Involuntary movements, Paroxysmal dyskinesia OMIM:611031
Spastic Paraplegia 24, Autosomal Recessive
Spasticity, Spastic paraplegia, Clonus, Tip-toe gait OMIM:607584
Early-Onset Generalized Limb-Onset Dystonia
Hypertonia, Gait disturbance ORPHA:256
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Vertigo, Benign Recurrent
Gait imbalance OMIM:193007
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Tinnitus, Progressive hearing impairment OMIM:193005
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Impaired tandem ga... OMIM:117360
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A... ORPHA:171622
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor OMIM:601238
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity ORPHA:217012
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spastic Paraplegia 32, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Cerebral atrophy, A... OMIM:611252
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Ataxia, Abasia OMIM:209100
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a... ORPHA:94122
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia, Nystagmus ORPHA:1182
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... ORPHA:101010
Spastic Paraplegia 61, Autosomal Recessive
Inability to walk, Spasticity, Spastic paraplegia, Scissor gait OMIM:615685
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... ORPHA:98765
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex OMIM:164150
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Involuntary movements OMIM:616939
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetri... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy OMIM:619405
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy ORPHA:363432
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... OMIM:619742
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo... OMIM:600143
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... OMIM:617018
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Nystagmus, Limb ataxia, Gait ataxia ORPHA:284282
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
X-Linked Complicated Spastic Paraplegia Type 1
Ataxia, Spastic paraplegia, Cognitive impairment, Mental deterioration, Upper motor neuron dysfun... ORPHA:306617
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spinocerebellar Ataxia Type 23
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... ORPHA:101108
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... ORPHA:397946
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... ORPHA:314978
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... OMIM:604432
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
Striatal Degeneration, Autosomal Dominant 2
Chorea, Parkinsonism OMIM:616922
Abducens Palsy
Strabismus OMIM:100200
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Spastic Ataxia 7, Autosomal Dominant
Spastic ataxia, Nystagmus, Babinski sign, Dysdiadochokinesis, Abnormal conjugate eye movement OMIM:108650
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Gait ataxia, Titubation, Head tremor ORPHA:98771
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Chorea, Benign Hereditary
Chorea, Frequent falls OMIM:118700
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... ORPHA:423275
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Episodic Ataxia, Type 8
Nystagmus, Ataxia, Slurred speech, Episodic ataxia, Intention tremor OMIM:616055
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Spinocerebellar Ataxia 27A
Impaired vibratory sensation, Upbeat nystagmus, Absent smooth pursuit, Gaze-evoked nystagmus, Imp... OMIM:193003
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Hoffmann sign, Babinski sign, Spastic paraplegia, Impaired vibration sensation in the low... OMIM:615625
Autosomal Recessive Spastic Paraplegia Type 24
Clonus, Spastic paraplegia, Scissor gait, Tip-toe gait, Spasticity ORPHA:101004
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking ORPHA:85292
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia OMIM:611694
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cerebellar agenesis ORPHA:1397
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Chorea, Remitting, With Nystagmus And Cataract
Chorea OMIM:601372
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor OMIM:618876
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Normal pressure hydrocephalus, Kinetic tremor, Gait disturbance OMIM:611808
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
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
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia OMIM:615705
Deafness-Infertility Syndrome
Male infertility, Azoospermia, Sensorineural hearing impairment ORPHA:94064
Neuhauser-Eichner-Opitz Syndrome
Rigidity, Spasticity, Hypertonia, Ataxia ORPHA:2672
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism... OMIM:615768
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Hypogonadotropic hypogonadism, Ataxia ORPHA:1180
Episodic Ataxia, Type 7
Episodic ataxia OMIM:611907
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... OMIM:619565
Spinocerebellar Ataxia, Autosomal Recessive 25
Horizontal nystagmus, Ataxia, Babinski sign, Dysmetria, Truncal ataxia OMIM:617584
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun... OMIM:302500
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia ORPHA:401840
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnorma... ORPHA:101110
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor OMIM:608029
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v... OMIM:616291
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Spinocerebellar Ataxia, Autosomal Recessive 28
Cerebellar vermis hypoplasia, Truncal titubation, Abnormal pyramidal sign, Gait ataxia, Poor fine... OMIM:618800
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, Myoclonus OMIM:616187
Periventricular Nodular Heterotopia 8
Spasticity, Cerebellar vermis atrophy OMIM:618185
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Cerebellar atrophy, Limb dystonia, Torticollis, Head titubation, Abnormal pyramidal sign, Limb at... OMIM:617560
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia OMIM:614322
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Nystagmus, Decreased distal sensory nerve action potential, Gaze-evoked nystagmus, Ataxia, Vestib... OMIM:614575
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Somatic sensory dysfunction, Abnormal saccadic eye movements, Abnormal visual fixation, Unsteady ... ORPHA:95434
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Ataxia OMIM:614706
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... OMIM:615957
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Dystonia 23
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses, Positive Romber... OMIM:616515
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 33
Dilated fourth ventricle, Broad-based gait, Head titubation, Gait ataxia, Cerebellar hypoplasia, ... OMIM:620208
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Spinocerebellar Ataxia 4
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... OMIM:600223
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ... OMIM:610357
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Cerebellar atrophy, Brain atrophy, Spastic tetraparesis OMIM:618741
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus OMIM:125370
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... ORPHA:98810
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... OMIM:602629
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign OMIM:617770
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Congenital Disorder Of Glycosylation, Type Iiz
Appendicular spasticity, Diffuse cerebellar atrophy, Clonus OMIM:620201
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Clumsiness OMIM:610003
Isolated Cerebellar Agenesis
Hypertonia, Ataxia, Abnormality of eye movement ORPHA:1398
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Ataxia, Corpus callosum atrophy,... OMIM:619389
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebellar atrophy, Cerebral atrophy, Truncal ataxia OMIM:611726
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, G... OMIM:616230
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements OMIM:620245
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Nescav Syndrome
Cerebellar atrophy, Appendicular spasticity, Ataxia, Inability to walk, Babinski sign, Cerebral a... OMIM:614255
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athet... ORPHA:280219
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, Tongue fasciculations, Tet... OMIM:618276
Dystonia 15, Myoclonic
Dystonia, Writer's cramp, Myoclonus OMIM:607488
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Lower limb spasticity, Ataxia, Cerebral atrophy, Hypertonia, Upper limb spast... OMIM:613925
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,... OMIM:615491
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus ORPHA:36899
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Lower limb spasticity, Inability to walk, Cerebral atrophy, Upper limb spasti... OMIM:618468
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Saccadic smooth pursuit, Nystagmus, Limb ataxia, Gait ataxia ORPHA:404499
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Nondisjunction
Decreased fertility OMIM:158250
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a... OMIM:613728
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Spinocerebellar Ataxia 6
Nystagmus, Ataxia, Impaired smooth pursuit, Gaze-evoked horizontal nystagmus, Vertigo, Dysmetria,... OMIM:183086
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Spinocerebellar Ataxia Type 43
Unsteady gait, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Distal... ORPHA:497764
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Babinski sign, Spastic paraplegia, Dysdiadochokinesis, Impaired... ORPHA:101007
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Gordon Holmes Syndrome
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Chorea, Primary amenorrhea, Secondary ... OMIM:212840
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Geniospasm 1
Chin myoclonus OMIM:190100
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... OMIM:300423
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Upper motor neuron dysfunction ORPHA:401901
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Dystonia, Ataxia, Head titubation, Dysesthesia, Abnormal pyramidal sign, Cere... ORPHA:527497
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Autosomal Spastic Paraplegia Type 72
Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles ORPHA:401849
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... ORPHA:459056
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... ORPHA:512260
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Babinski sign, Abnormal cerebellar cortex morphology, Gait ataxia, Spast... ORPHA:101111
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral atrophy, ... OMIM:618088
Mast Syndrome
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... OMIM:248900
Leukodystrophy, Hypomyelinating, 21
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Corpus callosum atrophy, Cryptorchidis... OMIM:619310
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Cerebellar atrophy OMIM:615596
Cataract-Ataxia-Deafness-Retardation Syndrome
Ataxia, Distal sensory impairment OMIM:212710
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga... OMIM:616127
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, C... ORPHA:98768
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramidal sign, Loss ... OMIM:610532
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy OMIM:614229
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Impaired vi... OMIM:607565
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga... OMIM:605259
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spinocerebellar Ataxia 27B, Late-Onset
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Difficulty walking, Cerebral cortica... OMIM:619425
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... OMIM:616204
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Impair... OMIM:605361
Sodium-Dependent Multivitamin Transporter Deficiency
Cerebellar atrophy, Cerebral palsy, Hypoplasia of the pons, Cerebral atrophy, Spasticity OMIM:618973
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Chorea, Ataxia OMIM:618683
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Choreoathetosis, Paresthesia, Parox... ORPHA:98811
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,... OMIM:618090
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Ataxia, Head titubation, Babinski sign, Dysmetria, Intention tremor OMIM:618688
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Ataxia OMIM:613402
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spinocerebellar Ataxia 49
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal... OMIM:619806
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Babinski ... OMIM:617225
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Frequent falls, Hemiballismus ORPHA:494526
X-Linked Progressive Cerebellar Ataxia
Unsteady gait, Babinski sign, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive... ORPHA:1175
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired proprioception, Impaired v... ORPHA:251282
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Vestibular areflexia, Dysmetria, Gait ataxia, Progressive cereb... ORPHA:504476
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... OMIM:617633
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait OMIM:618387
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Strabismus, Susceptibility To
Strabismus, Microtropia OMIM:185100
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:136600
Pontocerebellar Hypoplasia, Type 2D
Cerebellar atrophy, Appendicular spasticity, Clonus, Chorea, Spastic tetraplegia, Cerebral atroph... OMIM:613811
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration OMIM:610951
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... OMIM:610185
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Cerebellar atrophy, Slurred speech, Gait ataxia OMIM:619323
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Dystonia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, ... ORPHA:453521
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Broad-based gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar hypo... OMIM:224050
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Strabismus, Nystagmus, Ataxia ORPHA:2802
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Cerebellar dysplasia OMIM:615041
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Ataxia, Elongated superior cerebellar peduncle, Head titubation, Cerebe... ORPHA:370022
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Hand tremor, Gait ataxia, Atrophy/Degeneration affecting th... OMIM:617862
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Epilepsy, Familial Adult Myoclonic, 7
Myoclonic tremor OMIM:618075
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Neuronal loss in central nervous... OMIM:143100
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cer... OMIM:607346
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress... OMIM:612020
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce... ORPHA:521406
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Gaze-evoked horizontal nystagmus, Hypometric saccades, Dysmetria, Gait ataxia, Abnormality of ocu... ORPHA:324262
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysm... OMIM:617145
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... ORPHA:210571
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Dementia, Ataxia, Gait disturbance ORPHA:2274
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Paroxysmal Kinesigenic Dyskinesia
Athetosis, Chorea, Involuntary movements ORPHA:98809
Spastic Paraplegia Type 7
Cerebellar atrophy, Somatic sensory dysfunction, Babinski sign, Impaired vibration sensation in t... ORPHA:99013
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... ORPHA:248111
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... OMIM:620158
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Aplasia/Hypoplasia of the cerebellum, Tremor, Abnormal pyramidal sign, Clumsiness, Dement... ORPHA:79262
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Dystonia,... OMIM:617916
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Ataxia, Spastic tetraparesis OMIM:619061
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... ORPHA:208513
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Ataxia, Inability to walk, Atrophy/Degeneration affecting the brainstem, Dysm... OMIM:617954
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Cerebellar hypoplasi... ORPHA:280210
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Ataxia, Premature ovarian insufficiency, Babinski sign, Hand tremor... OMIM:615889
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Writer's cramp, Rig... ORPHA:98759
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Gaze-evoked nystagmus, Impaired smooth pursuit, Ataxia, Gait ataxia, Dysdiadochok... ORPHA:247234
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea OMIM:614055
Autosomal Recessive Spastic Paraplegia Type 46
Cerebellar atrophy, Lower limb spasticity, Broad-based gait, Abnormal sperm morphology, Ataxia, C... ORPHA:320391
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubation, Bradykinesia, Gait ... ORPHA:225147
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Hypertonia, Spastic tetraplegia, Cerebral atrophy OMIM:618730
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Lower limb spasticity, Cerebellar ve... ORPHA:98
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Cerebellar hypoplasia, Hypoplasia of the pons, Myoclonus OMIM:619303
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Rigidity, Chorea, Cerebral atrophy, Cogwheel rigidity, Choreoathetosis, Hyper... OMIM:616981
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:352403
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... ORPHA:71517
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Ataxia ORPHA:71518
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Truncal titubation, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Rigidity, ... OMIM:607483
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involu... ORPHA:454887
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Babinski sign, Spastic p... OMIM:614409
Ataxia-Tapetoretinal Degeneration Syndrome
Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Ataxia, Cognitive impairment ORPHA:1178
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Torticollis, Ataxia, Small for gestational age, Babinski sign, Choreoat... OMIM:619054
Episodic Ataxia Type 4
Abnormal head movements, Frequent falls, Incoordination, Ataxia ORPHA:79136
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, Spastic par... ORPHA:139480
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Leukodystrophy, Hypomyelinating, 14
Cerebellar atrophy, Spasticity, Cerebral atrophy OMIM:617899
Duane Retraction Syndrome 1
Impaired ocular abduction, Impaired convergence, Strabismus, Duane anomaly, Impaired ocular adduc... OMIM:126800
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Developmental And Epileptic Encephalopathy 92
Inability to walk, Lethargy, Ataxia, Difficulty walking OMIM:617829
Autosomal Recessive Spastic Paraplegia Type 74
Cerebellar atrophy, Babinski sign, Difficulty walking, Progressive spastic paraplegia ORPHA:468661
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... OMIM:619028
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Spastic Ataxia 9, Autosomal Recessive
Premature ovarian insufficiency, Ataxia, Hoffmann sign, Abnormal pyramidal sign, Babinski sign, D... OMIM:618438
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking OMIM:615048
Retinal Dystrophy With Leukodystrophy
Truncal titubation, Falls, Waddling gait, Dysmetria OMIM:618863
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Intellectual Developmental Disorder, Autosomal Recessive 77
Unsteady gait, Head tremor OMIM:619988
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Head titubation, Tremor, Inability to walk, Rigidity, Cerebral atrophy, G... OMIM:618877
Amyotrophic Lateral Sclerosis 2, Juvenile
Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe... OMIM:205100
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Frequent f... OMIM:301020
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Neurogenic bladder, Ataxia, Dysmetria, Gait ataxia, Dystonia,... OMIM:611390
Autosomal Recessive Spastic Paraplegia Type 76
Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Ankle clonus, Abnormality... ORPHA:488594
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Diffuse cerebral atrophy, R... OMIM:607136
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph... OMIM:614877
3-Methylglutaconic Aciduria, Type Iii
Ataxia, Chorea, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity OMIM:258501
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... OMIM:213200
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Testicular atrophy OMIM:613909
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Babinski sign, Spastic tetraple... OMIM:618404
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Waddling gait, Babinski sign, Cerebral atrophy, Spasticity OMIM:619090
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Cerebra... OMIM:607250
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Choreoathetosis, Familial Inverted
Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign, Gait disturbance OMIM:118750
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Dandy-Walker Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... OMIM:220200
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... OMIM:236792
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Spinocerebellar Ataxia Type 2
Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella... ORPHA:98756
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb... OMIM:618369
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... OMIM:619862
Spinocerebellar Ataxia 28
Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a... OMIM:610246
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Schizophrenia 15
Hyperactivity OMIM:613950
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Ataxia, Apraxia ORPHA:85338
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... ORPHA:101109
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Spasticity, Ataxia, Spastic tetraplegia OMIM:617207
Spinocerebellar Ataxia 5
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... OMIM:600224
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Gait disturbance ORPHA:79283
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Spinocerebellar Ataxia Type 11
Horizontal nystagmus, Abnormal pyramidal sign, Progressive cerebellar ataxia, Gait imbalance, Dif... ORPHA:98767
Intellectual Developmental Disorder, Autosomal Recessive 64
Spasticity, Hypertonia, Slurred speech, Impaired social interactions OMIM:618103
Cataract 11, Multiple Types
Chorea, Hypertonia OMIM:610623
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance ORPHA:228169
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... ORPHA:314632
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Dystonia, Ataxia, Clonus, P... ORPHA:300605
3-Methylglutaconic Aciduria Type 3
Nystagmus, Ataxia, Choreoathetosis, Gait disturbance, Spastic paraparesis ORPHA:67047
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Cerebellar atrophy, Ataxia OMIM:618879
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy ORPHA:276183
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s... ORPHA:93952
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di... ORPHA:98764
Spastic Paraplegia 85, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Torticollis, Lower limb spasticity, Impaired te... OMIM:619686
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Difficulty walking, Distal sensory impairment OMIM:613710
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Truncal titubation, Tremor, Abnormal cerebellum... OMIM:618056
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... ORPHA:98772
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Infantile Convulsions And Choreoathetosis
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Paroxysmal dyskinesia ORPHA:31709
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Ataxia OMIM:158500
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... ORPHA:94124
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... OMIM:500003
Spastic Paraparesis-Deafness Syndrome
Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Hypogonadism, Spastic ... ORPHA:2815
Leukodystrophy, Hypomyelinating, 2
Dystonia, Ataxia, Head titubation, Rigidity, Babinski sign, Cerebral atrophy, Choreoathetosis, Pr... OMIM:608804
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Cerebellar vermis atrophy OMIM:618501
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration aff... OMIM:612319
Friedreich Ataxia
Decreased motor nerve conduction velocity, Nystagmus, Abnormal saccadic eye movements, Hearing im... ORPHA:95
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Developmental And Epileptic Encephalopathy 44
Cerebellar atrophy, Cerebral atrophy, Athetosis, Dystonia, Spasticity, Failure to thrive OMIM:617132
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Atrophy of the spinal cord, Atrophy/Degeneration affecting the brainstem, Bab... ORPHA:445062
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr... OMIM:617810
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Gait ataxia, Spinocerebellar atrophy, ... OMIM:215470
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Diffi... ORPHA:330050
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Fasciculations OMIM:608030
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Limb fasciculations, Steppage gait, Impaired temperature sensation, Impaired pain sensation ORPHA:99940
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... ORPHA:139485
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Unste... ORPHA:79263
Spastic Paraplegia 75, Autosomal Recessive
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Impaired dis... OMIM:616680
Sandhoff Disease, Juvenile Form
Cerebellar atrophy, Incoordination, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, Abnormalit... ORPHA:309162
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Ataxia, Athetosis, Decreased body weight, Failure to thrive, Cerebral cortica... OMIM:614559
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Hypergonadotr... ORPHA:251347
Leukoencephalopathy, Cystic, Without Megalencephaly
Ataxia, Athetosis, Abnormal CNS myelination, Dystonia, Spasticity OMIM:612951
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Pr... OMIM:210000
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... ORPHA:1170
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Babinski sign, Limb tremor, Difficulty walking, Spastic gait, Progressive ... ORPHA:401820
Alternating Hemiplegia Of Childhood 2
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia OMIM:614820
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia OMIM:250620
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Spinocerebellar Ataxia 34
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... OMIM:133190
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Pontocerebellar Hypoplasia, Type 2C
Chorea OMIM:612390
Developmental And Epileptic Encephalopathy 17
Delayed CNS myelination, Inability to walk, Chorea, Athetosis, Dystonia OMIM:615473
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Gait disturbance, Aplasia/Hypoplasia of the cereb... ORPHA:2572
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Ataxia, Chorea, Athetosis, Abnormality of extrapyramidal motor function,... ORPHA:382
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Cerebral atrophy, Tip-toe gait, Progres... ORPHA:496689
Camos Syndrome
Ataxia, Spasticity, Brain atrophy, Aplasia/Hypoplasia of the cerebellum, Progressive extrapyramid... ORPHA:83472
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Ataxia ORPHA:622
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Axonal degeneration, Impaired vibration sensation in the lower limbs,... ORPHA:88628
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem, Spastic tetraplegia, Ce... OMIM:619971
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Cerebellar atrophy, Inability to walk, Ataxia, Gait ataxia OMIM:617915
Developmental And Epileptic Encephalopathy 69
Inability to walk, Spastic tetraplegia, Hyperkinetic movements, Myoclonus, Dystonia OMIM:618285
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Dysmetria OMIM:619191
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ataxia, Inability to walk, Athetosis, Abnormality of extrapyramidal motor function, Dystonia OMIM:615159
Hereditary Geniospasm
Chin myoclonus, Intention tremor ORPHA:53372
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Parkinsonism, Abnormal cerebellum morphology, Dementia, Abnormality of extrapyramidal mot... OMIM:162350
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... OMIM:128100
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Head titubation, Tremor, Inabilit... OMIM:312080
Roussy-Lévy Syndrome
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired pain sensati... ORPHA:3115
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Ataxia, Babinski sign, Impaired vibration sensation in the lower limbs, Unste... OMIM:159550
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Babinski sign, Spastic paraplegia, Limb fasciculations, Gait disturbance, Tongue fasciculations, ... ORPHA:329475
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Palatal... ORPHA:363717
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Chorea, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive ... OMIM:619150
Developmental And Epileptic Encephalopathy 11
Hyperkinetic movements, Spastic tetraplegia OMIM:613721
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... OMIM:617435
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Babinski sign, Spastic para... ORPHA:100988
Spastic Paraplegia 7, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Spastic ataxia, Waddling gait, Degeneration of the lat... OMIM:607259
Microlissencephaly
Cerebellar atrophy, Hypertonia, Cerebral cortical atrophy ORPHA:1083
Episodic Ataxia Type 6
Cerebellar atrophy, Slurred speech, Ataxia, Hemiplegia ORPHA:209967
Facial Onset Sensory And Motor Neuronopathy
Fasciculations ORPHA:85162
Glut1 Deficiency Syndrome 1
Choreoathetosis, Lethargy, Paroxysmal lethargy, Ataxia OMIM:606777
Perrault Syndrome 1
Cerebellar atrophy, Ataxia, Spastic diplegia, Primary amenorrhea, Gait ataxia, Intention tremor OMIM:233400
Leukodystrophy, Hypomyelinating, 4
Head titubation, Babinski sign, Spastic paraplegia, Choreoathetosis, Progressive spasticity OMIM:612233
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Athetosis, Gait disturbance, Dystonia OMIM:618141
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... ORPHA:240094
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Dystonia, Episodic hemiplegia, Choreoathetosis OMIM:104290
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus OMIM:612016
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... OMIM:616719
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... OMIM:604391
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Intention tremor OMIM:620221
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Axonal degeneration, Dysm... OMIM:302800
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebellar atrophy, Spastic ataxia, Impaired distal proprioception, Tremor, Abnormal cerebellum m... ORPHA:137898
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... ORPHA:254343
Congenital Disorder Of Glycosylation, Type Iii
Cerebellar atrophy, Neurogenic bladder, Truncal ataxia, Cerebral atrophy, Atrophy/Degeneration af... OMIM:613612
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... ORPHA:53583
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Hand tremor ORPHA:86814
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Atrophy/D... ORPHA:228360
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Progressive truncal ataxia, Broad-based gait, Babinski sign, Abnormal pyramidal sign, Dysmetria, ... ORPHA:363429
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, S... OMIM:614487
Hereditary Methemoglobinemia
Cerebellar atrophy, Small for gestational age, Spastic tetraplegia, Temporal cortical atrophy, At... ORPHA:621
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebellar atrophy, Chorea, Spastic tetraplegia, Athetosis, Cerebellar hypoplasia, Dystonia, Cere... OMIM:619922
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism,... OMIM:183090
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... OMIM:615528
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebellar atrophy, Cerebral atrophy, Dysmetria, Gait ataxia ORPHA:320385
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste... ORPHA:98760
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... ORPHA:247815
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spastic paraparesis, Apraxia, Olivop... OMIM:615157
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... ORPHA:320401
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Ataxia, Involuntary movements, Hypergonadotropic hypogonadism, Babinski sign,... OMIM:271245
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Autosomal Recessive Spastic Paraplegia Type 78
Cerebellar atrophy, Neurogenic bladder, Babinski sign, Abnormal pyramidal sign, Progressive cereb... ORPHA:513436
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Inability to walk, Chorea, Cryptorchidism, Cerebral atrophy, Gait ataxia, Dys... OMIM:618917
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Delayed CNS myelination, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Chore... OMIM:617964
Paroxysmal Nonkinesigenic Dyskinesia 1
Torticollis, Paroxysmal choreoathetosis OMIM:118800
Mepan Syndrome
Cerebellar atrophy, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Cerebral atrophy, Gai... ORPHA:508093
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebral atrophy, Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal mot... ORPHA:352596
Huntington Disease-Like 3
Abnormal head movements, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormal pyr... ORPHA:157946
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal motor func... OMIM:610743
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Ataxia OMIM:260970
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... OMIM:618598
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebellar atrophy, Waddling gait, Overweight, Babinski sign, Spastic dysarthria, Difficulty walk... ORPHA:280763
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
Episodic Ataxia, Type 6
Cerebellar atrophy, Slurred speech, Hemiparesis, Cerebellar hypoplasia, Truncal ataxia, Episodic ... OMIM:612656
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Nystagmus, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Upper ... OMIM:613672
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Ataxia, Cerebellar hypoplasia, Cognitive impairment ORPHA:2246
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Involuntary movements, Chorea, Atrophy/Degeneration affecting the brainstem, ... OMIM:617493
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Huntington Disease-Like 2
Chorea, Involuntary movements, Parkinsonism ORPHA:98934
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Rigidity, Inability to walk, Athetosis, Gait disturbance, Myoclonus, Loss of ... OMIM:618241
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ... ORPHA:284289
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebellar atrophy, Broad-based gait, Ataxia, Clonus, Babinski sign, Abnormal pyramidal sign, Uns... OMIM:616479
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Lower limb spasticity, Dystonia, Ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Trunc... OMIM:614458
Dystonia 9
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia OMIM:601042
Leukodystrophy, Hypomyelinating, 15
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, Athetosis, Dystonia, Loss ... OMIM:617951
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxi... OMIM:603516
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Frequent falls OMIM:615217
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Tremor, Babinski sign... OMIM:607694
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Premature ovarian insufficiency, Po... OMIM:300623
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Axonal... OMIM:208920
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Caudate atrophy, Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Partial absence of cerebell... ORPHA:137831
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Cerebe... ORPHA:314603
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Cerebell... ORPHA:313772
Spinocerebellar Ataxia Type 21
Akinesia, Rigidity, Tremor, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Neurogenic bladder, Mitochondrial hypertrophy, Babinski sign, Impai... OMIM:500013
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Atrophy/Degeneration affecting the brai... OMIM:616267
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Gaze-evoked nystagmus, Babinski sign, Spastic paraplegia, Limb ataxia, Bra... OMIM:618418
Intellectual Developmental Disorder, Autosomal Recessive 69
Spasticity, Ataxia, Cerebellar hypoplasia OMIM:618383
Basal Ganglia Calcification, Idiopathic, 5
Postural tremor, Parkinsonism, Cerebellar calcifications, Chorea, Hand tremor, Athetosis OMIM:615483
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance OMIM:609161
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, Chorea, Slu... ORPHA:98755
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Somatic sensory dysfunction, Gait ataxia, Progressive cerebellar ataxia, Paresthesia, Spasticity,... ORPHA:466794
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebellar atrophy, Abnormal pyramidal sign, Tetraplegia, Cerebral atrophy, Dystonia, Failure to ... OMIM:300475
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Allan-Herndon-Dudley Syndrome
Delayed CNS myelination, Ataxia, Clonus, Inability to walk, Babinski sign, Spastic paraplegia, Sp... OMIM:300523
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Oculogyric crisis, Inability to walk, Chorea, Cerebral atrophy, Hyperkinetic ... OMIM:614254
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb spasticity, Postural tremor, Impaired distal proprioception, Abnormal cerebellum morph... OMIM:270800
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Cerebellar atrophy, Inability to walk, Appendicular spasticity OMIM:618324
Fourth Cranial Nerve Palsy, Familial Congenital
Impaired ocular adduction, Abnormal visual fixation OMIM:136480
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Hand tremor, Myoclonus OMIM:608105
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia ORPHA:438134
Huntington Disease-Like 1
Rigidity, Chorea, Incoordination, Dysmetria OMIM:603218
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Cerebral atrophy, Paralysis OMIM:616286
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Fatty Acyl-Coa Reductase 1 Deficiency
Cerebellar atrophy, Inability to walk, Spastic tetraparesis, Dandy-Walker malformation ORPHA:438178
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... OMIM:612438
Spinocerebellar Ataxia 25
Cerebellar atrophy, Ataxia, Impaired pain sensation, Babinski sign, Abolished vibration sense, Oc... OMIM:608703
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Cerebellar atrophy, Inability to walk, Spasticity OMIM:617086
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Gait disturbance, Aplasia/Hypoplasia of the cerebellum ORPHA:2585
Central Neurocytoma
Pain insensitivity, Ataxia, Depression, Paresthesia, Lethargy ORPHA:73256
Methylmalonic Acidemia With Homocystinuria
Lethargy, Gait disturbance ORPHA:26
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Gerstmann-Straussler-Scheinker Syndrome
Dysesthesia, Abnormal cerebellum morphology, Gait ataxia, Dementia, Paresthesia, Abnormality of e... ORPHA:356
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ... ORPHA:99947
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Choreoathetosis, Athetosis, Chorea, Delayed CNS myelination OMIM:309541
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Ataxia, Gait disturbance ORPHA:85317
Congenital Disorder Of Glycosylation, Type Iin
Cerebellar atrophy, Inability to walk, Cerebellar vermis atrophy, Cerebral atrophy OMIM:616721
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Dysmetria, Progressive gait at... ORPHA:289494
Combined Saposin Deficiency
Babinski sign, Myoclonus, Fasciculations, Hyperkinetic movements OMIM:611721
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Cerebellar atrophy, Broad-based gait, Ataxia, Dysmetria OMIM:618098
Familial Paroxysmal Ataxia
Torticollis, Ataxia, Dystonia, Hemiplegia, Cerebellar vermis atrophy ORPHA:97
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Impulsivity, Hypoplasia of the pons, Dysphagia, Rhombencephalosynap... ORPHA:280195
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Ataxia, Inability to walk, Unsteady gait, Spastic tetraplegia, Cerebral atrop... ORPHA:1947
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Cerebellar atrophy, Ataxia, Dysmetria OMIM:618384
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia OMIM:614306
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Delayed CNS myelination, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to w... OMIM:619653
Basal Ganglia Calcification, Idiopathic, 6
Choreoathetosis, Involuntary movements, Parkinsonism OMIM:616413
Progressive Myoclonic Epilepsy Type 3
Cerebellar atrophy, Progressive truncal ataxia, Cerebral atrophy, Progressive cerebellar ataxia, ... ORPHA:263516
Spinocerebellar Ataxia Type 36
Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Truncal ataxia, Dysmetria... ORPHA:276198
Spinocerebellar Ataxia Type 10
Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Babinski sign, Unsteady gait, Dysmetri... ORPHA:98761
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Ataxia OMIM:618224
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Parkinsonism, Rigidity, Tremor, Cerebral atrophy, Bradykinesia, Spastic parap... ORPHA:329284
Striatonigral Degeneration, Infantile
Choreoathetosis, Spasticity, Dystonia OMIM:271930
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Gait imbalance, Cerebellar hypoplasia, Gait ataxia ORPHA:488635
Spinocerebellar Ataxia 21
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Co... OMIM:607454
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Hsd10 Mitochondrial Disease
Progressive neurologic deterioration, Sensorineural hearing impairment, Spastic tetraplegia, Abno... OMIM:300438
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Steppage gait, Fasciculations, Distal sensory impairment OMIM:606595
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... OMIM:616710
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Oculocerebral Syndrome With Hypopigmentation
Athetosis, Spasticity OMIM:257800
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Fasciculations, Difficulty walking OMIM:615575
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... OMIM:600363
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Dysdiadochokinesis, Hypertonia, Myoclonus, ... OMIM:618356
Roussy-Levy Hereditary Areflexic Dystasia
Distal sensory impairment, Action tremor, Upper limb postural tremor, Gait ataxia OMIM:180800
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypoplasia of the pons, Impaired proprioception, Hand tremor, Head tremor, Gait disturbance, Olig... ORPHA:412057
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... ORPHA:216873
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Unsteady gait, Ataxia OMIM:300861
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B... ORPHA:458803
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu... OMIM:301033
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Poor coordination, Ataxia, Action tremor OMIM:617665
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Ataxia, Cerebral atrophy, Cogwheel rigidity, Bradykinesia, Distal sensory imp... ORPHA:254886
Peroxisome Biogenesis Disorder 6B
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal vibration sensation, Un... OMIM:614871
Usher Syndrome
Nystagmus, Abnormal vestibular function, Ataxia, Sensorineural hearing impairment, Vestibular are... ORPHA:886
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh... OMIM:137440
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc... ORPHA:529665
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms OMIM:617830
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Distal sensory impairment, Spasticity, Inte... OMIM:612674
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia OMIM:619724
Spinocerebellar Ataxia 36
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ... OMIM:614153
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Cerebral atrophy, Tongue fasciculations, Ce... OMIM:618170
Wernicke-Korsakoff Syndrome
Memory impairment, Delirium, Ataxia, Confusion OMIM:277730
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia,... ORPHA:13
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Frontotemporal cerebr... ORPHA:79097
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Mitochondrial Dna Depletion Syndrome 17
Cerebellar atrophy, Spastic tetraparesis, Chorea, Cerebral atrophy, Hemiballismus OMIM:618567
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... OMIM:277460
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Paroxysmal dyskinesia ORPHA:79137
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea OMIM:607674
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Tongue fasciculations, Fasciculations OMIM:613435
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Postural tremor, Babinski sign, Distal sensory impairment, Gait disturbance, Positive Romberg sig... OMIM:616668
Spastic Paraplegia 17, Autosomal Dominant
Lower limb spasticity, Postural tremor, Impaired distal proprioception, Babinski sign, Impaired v... OMIM:270685
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Tip-toe gait, Difficulty walking, Frequent falls, Cerebellar cyst ORPHA:370980
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia OMIM:616398
Developmental And Epileptic Encephalopathy 98
Cerebellar atrophy, Cerebral atrophy OMIM:619605
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Rigidity, Tremor, Cerebral atrophy, Bradyki... OMIM:300894
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Ataxia, Involuntary movements, Delayed myelination, Choreoathetosis, Dystonia, Spasticity, Limb h... OMIM:615905
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Developmental And Epileptic Encephalopathy 40
Choreoathetosis, Lethargy OMIM:617065
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi... OMIM:617013
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Spastic tetraparesis, Cerebral atrophy, Spasticity, Dandy-Walker malformation, Cerebellar vermis ... OMIM:616154
Christianson Syndrome
Cerebellar atrophy, Cachexia, Truncal ataxia, Gait ataxia, Dystonia, Aplasia/Hypoplasia of the ce... ORPHA:85278
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, Ataxia, Inability to walk, Limb ataxia, Gait disturbance OMIM:617166
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Free... OMIM:619911
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Di... OMIM:616505
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... ORPHA:101150
Valinemia
Hyperkinetic movements OMIM:277100
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressi... ORPHA:306511
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rigidity, Cerebral at... OMIM:610127
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig... ORPHA:225154
Leukodystrophy, Hypomyelinating, 17
Cerebellar atrophy, Inability to walk, Cerebral atrophy OMIM:618006
Spastic Paraplegia 76, Autosomal Recessive
Lower limb spasticity, Nystagmus, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Distal se... OMIM:616907
Diaminopentanuria
Neurodegeneration, Spasticity, Ataxia OMIM:222350
Creutzfeldt-Jakob Disease
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia OMIM:123400
Early-Onset X-Linked Optic Atrophy
Babinski sign, Gait ataxia, Choreoathetosis, Dysdiadochokinesis, Intention tremor ORPHA:98890
Schimke X-Linked Mental Retardation Syndrome
Choreoathetosis, Spasticity OMIM:312840
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Abnormal myelination, Hand tremor, Progressive spastic paraplegia ORPHA:401835
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic movements, Dyston... OMIM:618218
Salla Disease
Inability to walk, Spasticity, Athetosis, Ataxia OMIM:604369
Developmental And Epileptic Encephalopathy 5
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, Atrophy/Degeneration affecting the bra... OMIM:613477
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Dystonia, Limb hypertonia OMIM:618247
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Symmetric peripheral demyelination, Tremor, Demyelinating motor neur... ORPHA:206594
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Hydrocephalus, Tetraplegia, Cerebral atrophy,... OMIM:616034
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Spastic Paraplegia 20, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Abnormal cerebellum morphology, Babinski sign, Spastic... OMIM:275900
Autosomal Recessive Ataxia, Beauce Type
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Babinski sign, D... ORPHA:88644
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Babinski sign, Spastic paraplegia, Abnormal myelination, Spasticity ORPHA:431329
Leukodystrophy, Hypomyelinating, 20
Cerebellar atrophy, Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia OMIM:619071
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Nystagmus, Ataxia ORPHA:3350
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Self-injurious behavior, Inability to walk, Chorea, Stereotypical hand wringing OMIM:618760
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Neurogenic bladder, Involuntary movements, Abnormal pyramidal sign, Dysmetria... OMIM:619780
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Ataxia, Loss of Purkinje cells in the cerebellar verm... OMIM:270550
Epilepsy, Progressive Myoclonic, 9
Action myoclonus, Frequent falls, Myoclonus, Gait ataxia OMIM:616540
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Failure to thrive, Spastic tetraplegia, Dystonia OMIM:618237
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysme... OMIM:614381
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... ORPHA:64753
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Progressive spastic... ORPHA:401830
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Ataxia, Myoclonus OMIM:545000
Machado-Joseph Disease Type 1
Cerebellar atrophy, Dilated fourth ventricle, Neurogenic bladder, Facial-lingual fasciculations, ... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Dilated fourth ventricle, Neurogenic bladder, Facial-lingual fasciculations, ... ORPHA:276241
Developmental And Epileptic Encephalopathy 65
Cerebellar atrophy, Spasticity, Cerebral atrophy OMIM:618008
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations OMIM:271200
Manganese Poisoning
Decreased female libido, Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Impotence, H... ORPHA:306682
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia ORPHA:3240
Leber Hereditary Optic Neuropathy
Postural tremor, Ataxia ORPHA:104
Machado-Joseph Disease
Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Dystonia, Ataxia, Par... OMIM:109150
Episodic Ataxia Type 1
Cerebellar atrophy, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, Tip-toe gait ORPHA:37612
Pontine Tegmental Cap Dysplasia
Ataxia, Head titubation, Dysmetria, Ankle clonus, Pontine tegmental cap, Oculomotor apraxia OMIM:614688
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Tip-toe gait, Gait disturbance... ORPHA:216866
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Cerebellar atrophy, Inability to walk, Abnormality of extrapyramidal motor function, Brain atroph... OMIM:614739
Spastic Paraplegia 86, Autosomal Recessive
Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis OMIM:619735
Myoclonus, Intractable, Neonatal
Athetosis, Chorea, Delayed CNS myelination, Myoclonus OMIM:617235
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Myoclonus OMIM:204500
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Leber Optic Atrophy And Dystonia
Bradykinesia, Athetosis, Dystonia, Spasticity, Upper motor neuron dysfunction OMIM:500001
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Limb ataxia, Gait ataxia, Spasticity,... OMIM:248800
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign, Fasciculations, Loss of ... OMIM:608627
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Choreoathetosis, Spasticity, Dystonia OMIM:614249
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Impaired distal vibration sensation, Distal sensory impairment, Steppage gait, Tip-toe gait, Fasc... OMIM:614436
Spastic Paraplegia 10, Autosomal Dominant
Lower limb spasticity, Ataxia, Parkinsonism, Babinski sign, Spastic paraplegia, Impaired vibratio... OMIM:604187
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... OMIM:256600
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Hyperkinetic movements, Ataxia OMIM:271980
Gillespie Syndrome
Cerebellar atrophy, Ataxia, Postural tremor, Slurred speech, Cerebellar hypoplasia OMIM:206700
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Incoordination, Ataxia, Impaired distal proprioception, Babinski sign, Abnormal pyramidal sign, I... OMIM:616688
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Atrophy of the spinal cord, Babinski sign, Focal dystonia, Spastic dysarthria, P... ORPHA:447757
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Unsteady gait, Primary amenorrhea, Secondary amenorrhea, Gait di... OMIM:603896
Trichothiodystrophy 8, Nonphotosensitive
Head titubation, Babinski sign, Spastic diplegia, Ankle clonus, Spasticity, Craniofacial dystonia OMIM:619691
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... OMIM:618060
Infantile Dystonia-Parkinsonism
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp... ORPHA:238455
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Postural tremor, Impaired distal proprioception, Babinski sign, Impaired vibration sensat... ORPHA:447896
Spastic Paraplegia 70, Autosomal Recessive
Ankle clonus, Spasticity, Fasciculations OMIM:620323
Huntington Disease-Like 2
Rigidity, Chorea, Bradykinesia, Action tremor OMIM:606438
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Inability to walk, Waddling gait OMIM:616269
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Babinski sign, Cerebral atrophy, Sensory ataxia, Gait ataxia, Atrophy/Degener... OMIM:616192
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor OMIM:617863
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Dystonia, Paralysis OMIM:300857
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Combined Oxidative Phosphorylation Deficiency 38
Posteriorly rotated ears, Decreased activity of mitochondrial ATP synthase complex, Decreased act... OMIM:618378
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
Infantile-Onset Spinocerebellar Ataxia
Ophthalmoplegia, Ataxia ORPHA:1186
Kaya-Barakat-Masson Syndrome
Cerebellar atrophy, Spasticity, Spastic tetraplegia, Cerebral atrophy OMIM:619125
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Difficulty walking, Paralysis OMIM:608634
Developmental And Epileptic Encephalopathy 27
Chorea, Myoclonus, Spasticity OMIM:616139
Joubert Syndrome 31
Nystagmus, Duane anomaly, Strabismus, Truncal ataxia, Oculomotor apraxia OMIM:617761
Pontocerebellar Hypoplasia, Type 6
Cerebellar atrophy, Appendicular spasticity, Lower limb spasticity, Cerebellar vermis hypoplasia,... OMIM:611523
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Ataxia ORPHA:2579
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Ataxia, Babinski sign, Brain atrophy, Dystonia, Failure to thrive OMIM:618226
Brunet-Wagner Neurodevelopmental Syndrome
Cerebellar atrophy, Cerebral atrophy OMIM:619690
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto... OMIM:617282
Perioral Myoclonia With Absences
Falls, Chin myoclonus ORPHA:139426
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Machado-Joseph Disease Type 3
Cerebellar atrophy, Abnormal lower motor neuron morphology, Neurogenic bladder, Dilated fourth ve... ORPHA:276244
Ravine Syndrome
Spasticity, Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Glutathione Synthetase Deficiency
Ataxia, Spastic tetraparesis, Intention tremor OMIM:266130
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkins... OMIM:614298
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Increased circulating free T3, Attention deficit hyp... OMIM:188570
Episodic Ataxia, Type 2
Progressive cerebellar ataxia, Paresthesia, Dystonia, Episodic ataxia, Cerebellar vermis atrophy OMIM:108500
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
Congenital Myopathy 9A
Cryptorchidism, Tongue fasciculations, Akinesia OMIM:618822
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Cerebral atrophy, Gait disturban... OMIM:615838
Myoclonic Epilepsy, Familial Infantile
Ataxia, Impaired tandem gait, Limb ataxia, Gait ataxia OMIM:605021
Huppke-Brendel Syndrome
Cerebellar atrophy, Inability to walk, Cerebral atrophy OMIM:614482
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Autosomal Dominant Spastic Paraplegia Type 17
Babinski sign, Postural tremor, Spastic gait, Distal sensory impairment ORPHA:100998
Leukodystrophy, Hypomyelinating, 9
Lower limb spasticity, Ataxia, Babinski sign, Dysmetria, Cerebral atrophy, Pseudobulbar paralysis... OMIM:616140
Liang-Wang Syndrome
Cerebellar atrophy, Ataxia, Cerebral atrophy, Dystonia OMIM:618729
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Cach Syndrome
Cerebellar atrophy, Premature ovarian insufficiency, Atrophy/Degeneration affecting the brainstem... ORPHA:135
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Dystonia OMIM:619065
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Generalized dystonia, Atrophy of the spinal cord, Progressive spastic parapar... ORPHA:329308
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Cerebellar atrophy, Clonus, Babinski sign, Progressive cerebellar ataxia, Dystonia OMIM:618868
X-Linked Spinocerebellar Ataxia Type 3
Ataxia, Esotropia ORPHA:85297
Aminoacylase 1 Deficiency
Cerebellar atrophy, Cerebral cortical atrophy, Cerebral atrophy OMIM:609924
Harel-Yoon Syndrome
Cerebellar atrophy, Ataxia, Inability to walk, Dystonia, Spasticity OMIM:617183
Joubert Syndrome 24
Ataxia, Dysmetria, Gait disturbance, Cerebellar hypoplasia, Spasticity OMIM:616654
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Head titubation, Dystonia, Truncal ataxia ORPHA:88639
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebellar atrophy, Corpus callosum atrophy, Abnormal pyramidal sign, Tetraplegia, Brain atrophy,... ORPHA:369939
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617820
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Cerebral atrophy, Hypertonia, Cerebellar hemisphere hypoplasia, Spasticity OMIM:615095
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Myoclonus, Abnormality of extrapyramidal motor function OMIM:204300
Developmental And Epileptic Encephalopathy 51
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Babinski sign, Abnormal pyramidal... OMIM:617339
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Eyelid myoclonus OMIM:618357
Galloway-Mowat Syndrome 2, X-Linked
Cerebellar atrophy, Cerebral atrophy, Spasticity, Dysmetria OMIM:301006
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia OMIM:617836
Hereditary Continuous Muscle Fiber Activity
Slurred speech, Ataxia, Spastic gait ORPHA:972
Spinocerebellar Ataxia 47
Ataxia, Chorea, Dysmetria, Spasticity, Cerebellar vermis atrophy OMIM:617931
Developmental And Epileptic Encephalopathy 74
Choreoathetosis, Delayed CNS myelination OMIM:618396
Brachydactyly-Nystagmus-Cerebellar Ataxia
Strabismus, Nystagmus, Ataxia OMIM:113400
Episodic Ataxia Type 3
Episodic ataxia, Nystagmus, Hemiplegia ORPHA:79135
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Spastic paraparesis ORPHA:391417
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Limb hypertonia OMIM:612936
Stxbp1-Related Encephalopathy
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Hengel-Maroofian-Schols Syndrome
Cerebellar atrophy, Inability to walk, Tetraplegia, Cerebral atrophy, Gait imbalance, Dystonia, S... OMIM:619641
Congenital Disorder Of Glycosylation, Type Iih
Cerebellar atrophy, Ataxia, Failure to thrive in infancy OMIM:611182
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Tremor, Inability to walk, Eyelid myoclonus, Clumsiness, Myoclonus, Difficulty wal... ORPHA:2590
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Ataxia, Decreased fertility in females, Crypto... ORPHA:79239
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Ataxia, Dysesthesia, Babinski sign, Unsteady gait, Limb ataxia, Clumsiness, G... OMIM:619259
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism, Ataxia ORPHA:88637
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py... ORPHA:101070
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Tr... OMIM:618249
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Dystonia, Parkinsonism, Impaired distal proprioception, Rigidity, Babinski si... OMIM:258450
Primary Progressive Freezing Gait
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Shuffling gait, Gait imbalance, D... ORPHA:75567
Spastic Paraplegia 44, Autosomal Recessive
Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Distal sensory impai... OMIM:613206
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cerebellar atrophy, Clonus, Spastic tetraparesis, Inability to walk, Cerebral cortical atrophy OMIM:617481
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Hypoplasia of the pons, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral atrophy OMIM:616171
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Gait ataxia OMIM:609425
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance ORPHA:99014
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cer... OMIM:617710
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus ORPHA:352582
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Joubert Syndrome 20
Molar tooth sign on MRI, Self-mutilation, Aggressive behavior OMIM:614970
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia OMIM:618497
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Hydrocephalus OMIM:618302
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Limb dystonia OMIM:620270
Prune1-Related Neurological Syndrome
Cerebellar atrophy, Clonus, Spastic tetraparesis, Inability to walk, Cerebral atrophy, Tongue fas... ORPHA:544469
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Pontocerebellar Hypoplasia, Type 1B
Cerebellar atrophy, Cerebral atrophy, Tongue fasciculations, Oculomotor apraxia, Spasticity, Cere... OMIM:614678
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Intenti... OMIM:619725
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebral atrophy, Involuntary movements, Upper limb postural tremor, Tetraparesis, Diffus... ORPHA:477774
Alzheimer Disease 3
Spastic tetraparesis, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Gai... OMIM:607822
Sydenham Chorea
Chorea, Hemiballismus ORPHA:306731
Spinocerebellar Ataxia 1
Dilated fourth ventricle, Impaired vibratory sensation, Impaired pain sensation, Chorea, Babinski... OMIM:164400
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Ataxia, Inability to walk, Dysmetria, Cerebellar hypoplasia, Dystonia, Oculomotor apraxia, Spasti... OMIM:618087
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Spasticity OMIM:308950
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Corpus callosum atrophy, Abnormal pons morphology, Atrophy/Degeneration... ORPHA:77299
Developmental And Epileptic Encephalopathy 48
Cerebellar atrophy, Cerebral atrophy, Limb hypertonia OMIM:617276
3-Methylglutaconic Aciduria, Type I
Ataxia, Spastic tetraplegia, Athetosis, Dystonia, Spasticity OMIM:250950
Spinocerebellar Ataxia Type 6
Incoordination, Babinski sign, Unsteady gait, Gait ataxia, Blepharospasm, Progressive cerebellar ... ORPHA:98758
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyram... OMIM:606002
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Cerebral palsy, Chorea, Babinski sign, Delayed myelination, Choreoathetosis, Hypertonia, Dystonia... OMIM:618451
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Peho-Like Syndrome
Cerebellar atrophy, Myoclonus OMIM:617507
Intellectual Developmental Disorder, Autosomal Dominant 62
Cerebellar vermis atrophy OMIM:618793
Pyruvate Carboxylase Deficiency
Athetosis, Clonus, Leukodystrophy OMIM:266150
Cog8-Cdg
Cerebellar atrophy, Ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem, Failure to t... ORPHA:95428
Kennedy Disease
Gait disturbance, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements ORPHA:209970
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Dysmetria, Pseudobulbar paralysis, Lower... ORPHA:438114
Porphyria, Acute Hepatic
Failure to thrive, Respiratory paralysis, Paresthesia, Paralysis OMIM:612740
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia ORPHA:306669
Pontocerebellar Hypoplasia, Type 2B
Cerebellar atrophy, Cerebellar vermis hypoplasia, Clonus, Chorea, Babinski sign, Cerebral atrophy... OMIM:612389
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... OMIM:609583
Brunner Syndrome
Kinetic tremor OMIM:300615
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Ataxia, Head titubation, Hypoplasia of the pons, Dysmetria, Cerebellar hypopl... OMIM:619708
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Hydrocephalus, Cerebral atrophy, Dystonia, Spasticity OMIM:610333
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Spasticity, Dystonia OMIM:304700
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia OMIM:257970
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... ORPHA:101077
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Dystonia, Chorea, Cerebral atrophy, Opisthotonus, Myoclonus, Cerebellar hypop... OMIM:616672
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased ... ORPHA:206443
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Myoclonus OMIM:254800
Cdkl5-Deficiency Disorder
Impaired pain sensation, Gait disturbance, Inappropriate laughter, Difficulty walking, Bruxism, S... ORPHA:505652
Developmental And Epileptic Encephalopathy 93
Cerebellar atrophy, Spastic tetraparesis, Inability to walk, Cerebral atrophy, Gait disturbance OMIM:618012
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocerebellar atrophy, Progressiv... ORPHA:95433
Spinocerebellar Ataxia, Autosomal Recessive 20
Cerebellar atrophy, Ataxia, Inability to walk, Babinski sign, Cerebellar hypoplasia, Apraxia, Spa... OMIM:616354
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign, Gait ataxia, Hyperkineti... OMIM:620089
Pontocerebellar Hypoplasia, Type 3
Cerebellar atrophy, Hypoplasia of the pons, Atrophy/Degeneration affecting the brainstem, Cerebra... OMIM:608027
Foxg1 Syndrome
Inability to walk, Delayed myelination, Choreoathetosis, Hyperkinetic movements, Myoclonus, Diffi... ORPHA:561854
Susac Syndrome
Lethargy, Somatic sensory dysfunction, Apathy, Gait ataxia ORPHA:838
Aceruloplasminemia
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... OMIM:604290
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Cerebral atrophy... OMIM:610217
Null Syndrome
Ataxia, Inability to walk, Abnormal cerebellum morphology, Progressive spastic quadriplegia, Diff... ORPHA:280234
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... OMIM:261640
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ... ORPHA:431361
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Leukodystrophy, Dystonia OMIM:614932
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Cerebellar atrophy, Progressive spastic paraparesis, Spastic ataxia, Spastic tetraparesis ORPHA:496756
Leukoencephalopathy With Ataxia
Action tremor, Limb ataxia, Gait ataxia OMIM:615651
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus ORPHA:324708
Scholte Syndrome
Cerebellar atrophy, Abnormal pyramidal sign OMIM:300977
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Spastic paraparesis, Palatal tremor, Truncal ataxia OMIM:113610
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Gait disturbance, Disinhibition, Abnor... OMIM:600795
Pyruvate Dehydrogenase E2 Deficiency
Choreoathetosis, Oculomotor apraxia, Ataxia, Jerky head movements OMIM:245348
Cln3 Disease
Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Bradykinesia, Generalized cerebral ... ORPHA:228346
Huntington Disease-Like 3
Ataxia, Chorea, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Spasticity OMIM:604802
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Abnormal cerebellum morphology, Kinetic tremor OMIM:190310
Joubert Syndrome 30
Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malformation OMIM:617622
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Lethargy, Amenorrhea OMIM:602390
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Severe Canavan Disease
Inability to walk, Lethargy ORPHA:314911
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, G... ORPHA:275864
Developmental And Epileptic Encephalopathy 72
Inability to walk, Hyperkinetic movements OMIM:618374
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Hypertonia, Myoclonus OMIM:610090
Intellectual Developmental Disorder, Autosomal Recessive 79
Intention tremor, Broad-based gait, Incoordination, Gait ataxia OMIM:620393
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Mucolipidosis Iv
Cerebellar atrophy, Babinski sign, Spastic tetraplegia, Dystonia OMIM:252650
Developmental And Epileptic Encephalopathy 1
Delayed CNS myelination, Spastic tetraparesis, Abnormal pyramidal sign, Choreoathetosis, Hyperton... OMIM:308350
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Snijders Blok-Fisher Syndrome
Delayed CNS myelination, Cryptorchidism, Opisthotonus, Choreoathetosis, Spasticity OMIM:618604
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
Charcot-Marie-Tooth Disease Type 4D
Somatic sensory dysfunction, Postural tremor, Inability to walk, Unsteady gait, Distal sensory im... ORPHA:99950
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Pellagra-Like Syndrome
Ataxia, Confusion OMIM:260650
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... OMIM:607876
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Dystonia ORPHA:139406
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Generalized dystonia, Unsteady gait, Cerebral atrophy, Gait disturbance, Myoc... ORPHA:412217
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Developmental And Epileptic Encephalopathy 78
Chorea, Cerebral palsy, Spasticity OMIM:618557
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Amyotrophic Lateral Sclerosis 18
Spasticity, Fasciculations OMIM:614808
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... OMIM:610600
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Chorea, Progressive extrapyramidal muscular rigidi... ORPHA:401768
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Distal sensory impairment, Paralysis OMIM:605285
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Gait disturbance, Difficulty walking ORPHA:352470
Allan-Herndon-Dudley Syndrome
Ataxia, Cryptorchidism, Delayed myelination, Babinski sign, Abnormal pyramidal sign, Spastic tetr... ORPHA:59
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Difficulty wal... OMIM:617695
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... ORPHA:206448
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia OMIM:619317
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... ORPHA:171629
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Ataxia OMIM:246900
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Rigidity, Inability to walk, CNS hypomyelination, Choreoathetosis, Hypertonia OMIM:620023
Episodic Ataxia, Type 5
Episodic ataxia, Ataxia, Myoclonus, Truncal ataxia OMIM:613855
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... OMIM:619927
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Tongue fasciculations, Difficulty walking, Myoclonus, Frequent falls OMIM:159950
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Postural tremor, Ataxia OMIM:300619
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Cerebral atrophy, Myoclonus, Decreased body weight, Failure to thrive OMIM:619060
Distal Deletion 3P
Low-set, posteriorly rotated ears, Abnormal vestibulo-ocular reflex, Cognitive impairment, Hearin... ORPHA:1620
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Cerebellar atrophy, Spastic tetraparesis OMIM:618506
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Somatic sensory dysfunction, Steppage gait, Fasciculations, Impaired distal tactile sensation OMIM:600882
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations OMIM:619141
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking ORPHA:477673
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Tetraplegia, Gait disturbance, Fasciculations, Hand tremor OMIM:604484
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia... OMIM:617854
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... OMIM:610688
Childhood-Onset Spasticity With Hyperglycinemia
Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Babinski sign, Spastic diplegi... ORPHA:401866
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Increased serum serotonin ORPHA:85288
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem m... ORPHA:1532
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Autosomal Dominant Optic Atrophy, Classic Form
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Spastic paraplegia, Hemiparesis, Gait distur... ORPHA:98673
Charcot-Marie-Tooth Disease Type 4C
Cerebellar atrophy, Failure to thrive, Impaired pain sensation, Inability to walk, Impaired dista... ORPHA:99949
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Myoclonus OMIM:609056
Coenzyme Q10 Deficiency, Primary, 5
Cerebellar atrophy, Hypertonia, Cerebral atrophy, Dystonia OMIM:614654
Folate Malabsorption, Hereditary
Athetosis, Ataxia OMIM:229050
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Cerebellar gliosis, Unsteady gait, Abnormal pyr... ORPHA:35069
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Chorea, Abnormal pyramidal sign, Gait ataxia, Abnormality of extrapyrami... ORPHA:500180
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements ORPHA:397933
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Lower limb spasticity, Broad-based gait, Babinski sign, Steppage gait, Tip-toe gai... OMIM:615290
Developmental And Epileptic Encephalopathy 4
Delayed CNS myelination, Tremor, Spastic paraplegia, Spastic tetraplegia, Choreoathetosis, Cerebr... OMIM:612164
Free Sialic Acid Storage Disease
Ataxia, Abnormal pyramidal sign, Athetosis, Gait disturbance, Oculomotor apraxia, Spasticity ORPHA:834
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Adenylosuccinase Deficiency
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Opisthotonus, Gait ataxia, Myoclonus, He... OMIM:103050
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Ataxia OMIM:618225
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks OMIM:254770
Cog7-Cdg
Cerebellar atrophy, Small for gestational age, Subcortical cerebral atrophy, Brain atrophy, Failu... ORPHA:79333
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Spasticity OMIM:609260
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowed slur... ORPHA:240071
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Torticollis, Head tremor, Dystonia, Intention tremor OMIM:613724
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Choreoathetosis, Frequent falls, Ataxia, Dystonia OMIM:618416
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Frontotemporal cerebral atrophy... OMIM:619606
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Choreoathetosis, Demyelinating peripheral neuropathy OMIM:617519
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Srd5A3-Cdg
Cerebellar atrophy, Abnormal cerebellum morphology, Ataxia, Abnormal cerebellar vermis morphology ORPHA:324737
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Ataxia, Spastic paraplegia, Tetraplegia, Hypogonadism, Dystonia, Cerebral cor... ORPHA:254913
Developmental And Epileptic Encephalopathy 16
Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dystonia OMIM:615338
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Ataxia, Gait ataxia, ... ORPHA:543470
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Dysmetria, Dysdiadochokinesis, Truncal ataxia, Lethargy, Spastic gait OMIM:238970
Sneddon Syndrome
Tremor, Chorea, Hemiparesis ORPHA:820
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Primary Dystonia, Dyt4 Type
Torticollis, Generalized dystonia, Involuntary movements, Upper limb postural tremor, Blepharospa... ORPHA:98805
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Dysesthesia, Dysmetria, Gait ataxia, Bradykinesia, Impotence, Gai... ORPHA:93256
Thyrocerebrorenal Syndrome
Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia ORPHA:3327
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Cerebellar atrophy, Torticollis, Ataxia, Limb hypertonia OMIM:618547
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Ataxia, Loss of ability to walk in first decade, Hyperkinetic movements, Neur... OMIM:300243
Hereditary Hyperekplexia
Ataxia, Rigidity, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Spasticity ORPHA:3197
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... OMIM:105500
Recessive Mitochondrial Ataxia Syndrome
Impaired vibratory sensation, Ataxia, Dysmetria, Positive Romberg sign, Gait disturbance, Cogniti... ORPHA:94125
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:617127
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Cerebellar hypoplasia, ... OMIM:620327
Bile Acid Synthesis Defect, Congenital, 6
Ataxia, Slurred speech, Dysmetria, Gait ataxia, Vertical supranuclear gaze palsy OMIM:617308
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... OMIM:168601
Shukla-Vernon Syndrome
Cerebellar atrophy, Broad-based gait OMIM:301029
Lipoyltransferase 1 Deficiency
Cerebellar atrophy, Abnormality of extrapyramidal motor function, Spastic tetraparesis, Dystonia OMIM:616299
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Abnormal pyramidal sign, Dysmetria, Paresthesia, Cerebral cortical atrophy, Intention tremor ORPHA:48431
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Cryptorchidism, Gait ataxia, Spasticity, Spastic gait ORPHA:496790
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Ankle clonu... OMIM:213700
Mitochondrial Complex I Deficiency, Nuclear Type 16
Choreoathetosis, Spasticity, Spastic tetraplegia, Dystonia OMIM:618238
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Decreased activity of mitochondrial complex IV, Increased mitochondrial number, Bab... OMIM:619063
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Increased mitochondrial number, Decreased activity of mitochondrial complex I, Dysmetria OMIM:615578
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Inability to walk, Hydrocephalus, Cerebellar hypoplasia, Cerebellar... OMIM:613155
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Cyclic Vomiting Syndrome
Lethargy, Ataxia OMIM:500007
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Hypergonadotropic hypogonadism, Tremor, Myo... OMIM:607426
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Congenital Disorder Of Glycosylation, Type In
Spasticity, Ataxia, Myoclonus OMIM:612015
Intellectual Developmental Disorder, X-Linked 104
Tremor, Spasticity, Ataxia OMIM:300983
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Hypertonia, Limb tremor, Myoclonus OMIM:300699
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... OMIM:311510
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Congenital Myopathy 16
Tongue tremor, Postural tremor OMIM:618524
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Neurogenic bladder, Ataxia, Parkinsonism, Frontotemporal dementia,... OMIM:615911
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Poor motor coordination, Parkinsonism, Cerebral atrophy, Clumsiness, Poor fin... ORPHA:79264
Familial Or Sporadic Hemiplegic Migraine
Cerebellar atrophy, Involuntary movements, Impaired temperature sensation, Dissociated sensory lo... ORPHA:569
Thyrocerebroretinal Syndrome
Slurred speech, Ataxia, Myoclonus OMIM:274240
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Cerebral atrophy, Head tremor, Atrophy... ORPHA:314404
Episodic Ataxia, Type 4
Gaze-evoked nystagmus, Abnormality of ocular smooth pursuit, Esophoria, Episodic ataxia, Spasticity OMIM:606552
Joubert Syndrome 16
Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation OMIM:614465
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Myoclonus, Cerebral atrophy OMIM:619609
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance OMIM:603472
Filippi Syndrome
Cerebellar atrophy, Cryptorchidism, Decreased body weight, Dystonia OMIM:272440
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Failure to thrive, Tremor, Inability to walk, Dysmetri... OMIM:617988
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... ORPHA:254881
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula... ORPHA:90117
Spinocerebellar Ataxia, Autosomal Recessive 31
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:619422
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
East Syndrome
Cerebellar atrophy, Ataxia, Inability to walk, Difficulty walking, Action tremor ORPHA:199343
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms, Difficulty walking OMIM:617393
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Tip-toe gait, Difficulty walking, Frequent falls, Cerebellar cyst OMIM:606612
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Ataxia OMIM:618228
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... ORPHA:556037
Alpha-Mannosidosis, Adult Form
Cerebellar atrophy, Ataxia, Clumsiness, Subcortical cerebral atrophy, Cerebral cortical atrophy ORPHA:309288
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Choreoathetosis, Lethargy, Chorea ORPHA:289916
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Lower limb spasticity, Babinski sign, Ankle clonus, Fasciculations, Tetraparesis, Difficulty walk... OMIM:613954
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Spastic Paraplegia 51, Autosomal Recessive
Cerebellar atrophy, Overweight, Inability to walk, Babinski sign, Spastic paraplegia, Spastic tet... OMIM:613744
Huntington Disease
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br... ORPHA:399
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Cerebellar atrophy, Spasticity, Ataxia, Cataplexy OMIM:604121
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Isaacs Syndrome
Fasciculations ORPHA:84142
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Postencephalitic Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Babinski sign, Abnormal pyramidal sign... ORPHA:97349
Atypical Rett Syndrome
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon... ORPHA:3095
Dravet Syndrome
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... ORPHA:33069
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Spasticity OMIM:616840
Stt3A-Cdg
Cerebellar atrophy ORPHA:370921
Aceruloplasminemia
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, C... ORPHA:48818
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, C... OMIM:615356
Mitochondrial Complex I Deficiency, Nuclear Type 31
Myoclonus, Dysmetria OMIM:618251
Autosomal Recessive Spastic Paraplegia Type 9B
Postural tremor, Corpus callosum atrophy, Babinski sign, Tetraplegia, Tip-toe gait, Cerebral cort... ORPHA:447760
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Short stepped shuffling gait OMIM:168605
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Decreased te... ORPHA:457240
Sulfite Oxidase Deficiency, Isolated
Generalized dystonia, Ataxia, Choreoathetosis, Hypertonia, Hemiplegia OMIM:272300
Pontocerebellar Hypoplasia, Type 1D
Cerebellar atrophy, Cerebral atrophy, Tongue fasciculations, Fasciculations, Spasticity, Failure ... OMIM:618065
Alexander Disease
Ataxia, Babinski sign, Dysmetria, Spasticity, Palatal tremor OMIM:203450
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Oromotor apraxia, Cerebellar atrophy, Hemiparesis ORPHA:300573
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Cryptorchidism, Gait ataxia, Abdominal obesity, Hypogonadism, Decreased testicular size, ... OMIM:300354
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Episodic ataxia, Myoclonus, Morning myoclonic jerks, Truncal ataxia OMIM:607682
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebellar atrophy, Corpus callosum atrophy, Tetraplegia, Opisthotonus, Cerebral atrophy, Hyperto... OMIM:619272
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Optic Atrophy 11
Delayed CNS myelination, Ataxia, Gait apraxia, Dysmetria, Athetosis, Hyperkinetic movements OMIM:617302
Lennox-Gastaut Syndrome
Hyperactivity, Abnormal brainstem morphology, Aggressive behavior ORPHA:2382
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Speech apraxia, Ataxia, Dysmetria, Intention tremor OMIM:619352
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Cerebellar atrophy, Broad-based gait, Small for gestational age, Failure to thrive in infancy, Po... OMIM:618891
Spinocerebellar Ataxia Type 7
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Babinski sign, Dysmetria, Cerebral atrop... ORPHA:94147
Cimdag Syndrome
Cerebellar vermis hypoplasia, Ataxia, Chorea, Cerebral atrophy, Pontocerebellar atrophy, Hypogona... OMIM:619273
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Ataxia, Cerebral atrophy, Cervical myelopathy, Tetraparesis, Brain atrophy OMIM:619260
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Gait imbalance OMIM:618120
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Hypertonia, Spasticity ORPHA:33445
Charcot-Marie-Tooth Disease And Deafness
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment OMIM:118300
Short Stature-Micrognathia Syndrome
Cerebellar atrophy, Ataxia, Cryptorchidism, Gait ataxia, Decreased body weight, Failure to thrive OMIM:617164
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Inability to walk, Cerebral atrophy, Gait di... ORPHA:168491
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, Gait disturbance, Myoclonus, Apraxia OMIM:618193
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign... ORPHA:98808
Mitochondrial Complex I Deficiency, Nuclear Type 27
Vertical supranuclear gaze palsy, Ataxia, Spastic tetraplegia OMIM:618248
Joubert Syndrome 32
Molar tooth sign on MRI, Abnormal cerebellum morphology OMIM:617757
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P... ORPHA:97355
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Unsteady gait, Ataxia, Neurodegeneration OMIM:615919
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to ... ORPHA:845
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Attention deficit hyperactivity disorder, Oligozoospermia ORPHA:3000
Developmental And Epileptic Encephalopathy 109
Crouch gait, Myoclonus, Spasticity, Gait ataxia OMIM:620145
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intent... OMIM:254900
Acute Peripheral Arterial Occlusion
Paresthesia, Impaired distal tactile sensation, Paralysis ORPHA:90064
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy, Gait disturbance OMIM:236270
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Superficial Siderosis
Cerebellar atrophy, Ataxia, Impaired temperature sensation, Impaired pain sensation, Atrophy of t... ORPHA:247245
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia OMIM:619111
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia OMIM:312170
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Secondary amenorrhea... ORPHA:3085
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Pain insensitivity, Delayed CNS myelination, Abnormal pyramidal sign, Athetosis, Oculomotor apraxia OMIM:614388
Hjv Or Hamp-Related Hemochromatosis
Lethargy, Impotence, Hypogonadism ORPHA:79230
Chudley-Mccullough Syndrome
Hydrocephalus, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:604213
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Ataxia, Myoclonus, Dystonia OMIM:620094
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... ORPHA:556030
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Babinski sign, Abnormal pyramidal sign, Fasciculations OMIM:602099
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Impulsivity, Gait ataxia OMIM:619717
Oromandibular Dystonia
Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, Limb dystonia, Lingual ... ORPHA:93958
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Cerebral ... ORPHA:445038
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Spasticity, Cerebellar hypoplasia ORPHA:168486
Jeavons Syndrome
Abnormal head movements, Limb myoclonus ORPHA:139431
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebellar atrophy, Spasticity, Cerebral atrophy, Dystonia OMIM:619286
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... ORPHA:765
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Fasciculations OMIM:137200
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Ceroid Lipofuscinosis, Neuronal, 3
Loss of ambulation, Abnormality of extrapyramidal motor function, Parkinsonism, Myoclonus OMIM:204200
Combined Oxidative Phosphorylation Defect Type 13
Choreoathetosis, Lower limb hypertonia, Delayed myelination, Limb dystonia ORPHA:319514
Stt3B-Cdg
Cerebellar atrophy ORPHA:370924
Leukodystrophy, Hypomyelinating, 13
Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia... OMIM:616881
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Limb ataxia, Cerebellar vermis atrophy, Truncal ataxia OMIM:617101
Galloway-Mowat Syndrome 9
Cerebellar atrophy, Cerebral cortical atrophy, Choreoathetosis OMIM:619603
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Continuous Spikes And Waves During Sleep
Speech apraxia, Dystonia, Hyperkinetic movements, Clumsiness ORPHA:725
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, Ataxia, Myoclonus OMIM:256730
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Spasticity, Abnormal pyramidal sign OMIM:614833
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Cerebellar atrophy, Ataxia, Inability to walk, Dysmetria, Spasticity, Cerebral cortical atrophy OMIM:619576
3-Methylglutaconic Aciduria, Type Ix
Choreoathetosis, Spasticity, Hypertonia, Clonus OMIM:617698
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Cerebellar atrophy, Cerebral atrophy, Limb dystonia OMIM:620269
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Anencephaly OMIM:614120
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Gait disturbance, Shu... ORPHA:289560
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... OMIM:608643
Niemann-Pick Disease, Type A
Delayed CNS myelination, Rigidity, Inability to walk, Athetosis, Spasticity OMIM:257200
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... ORPHA:572798
Congenital Disorder Of Glycosylation, Type Ix
Cerebellar atrophy, Cryptorchidism, Failure to thrive OMIM:615597
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Cochlear degeneration, Hearing impairment OMIM:271250
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O... ORPHA:101085
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Cryptorchidism, Polyphagia, Self-injurious behavior, Abnormal repetitive m... ORPHA:228402
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Gait disturbance, Inappropriate laughter, Abnormal repetitive mannerisms, ... OMIM:614104
Xq28 (MECP2) duplication
Inability to walk, Abnormal repetitive mannerisms, Dysphagia, Gait ataxia DECIPHER:45
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Broad-based gait, Sensory ataxia, Distal sensory impairment, Gait ataxia, Steppage gait, Difficul... OMIM:614895
Myopathy With Extrapyramidal Signs
Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality of extrapyramidal motor ... OMIM:615673
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Lethargy, Ataxia ORPHA:27
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis, Paresthesia ORPHA:640
Amyotrophic Lateral Sclerosis 1
Pseudobulbar paralysis, Fasciculations, Spasticity OMIM:105400
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Hypertonia, Myoclonus, S... OMIM:615851
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Ataxia, Unsteady gait, Fasciculations, Difficulty walking, ... ORPHA:464282
Pontocerebellar Hypoplasia Type 4
Hypertonia, Myoclonus ORPHA:166063
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Chorea, Spasticity OMIM:613970
Multiple Sulfatase Deficiency
Cerebellar atrophy, Ataxia, Hydrocephalus, Cerebral atrophy, Spasticity OMIM:272200
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... OMIM:612650
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Cerebral cortical atrophy, Global brain ... OMIM:617802
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Spasticity, Limb hypertonia OMIM:616212
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Shufflin... ORPHA:171695
Warburg Micro Syndrome 4
Cerebellar atrophy, Inability to walk, Cryptorchidism, Babinski sign, Spastic tetraplegia, Cerebr... OMIM:615663
Galloway-Mowat Syndrome 6
Cerebellar atrophy, Cerebellar vermis atrophy OMIM:618347
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy, Ataxia OMIM:237300
Dpm1-Cdg
Cerebellar atrophy, Ataxia, Cerebral atrophy, Pontocerebellar atrophy, Abnormal dentate nucleus m... ORPHA:79322
Early-Onset Lafora Body Disease
Ataxia, Confusion, Spastic tetraparesis, Myoclonus, Mental deterioration ORPHA:324290
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Lower limb spasticity, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in th... ORPHA:352641
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Tremor, Inability to walk, Sensorineural hearing impairment,... ORPHA:52368
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... OMIM:616586
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Inability to walk, R... OMIM:617193
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:26792
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Hyperkinetic movements, Difficulty walking, Truncal ataxia ORPHA:369847
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis... OMIM:261600
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased serum testosterone concentration, Decreased circulating cortisol level, Precocious pube... ORPHA:90793
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Chorea, Progressive cerebellar ataxia, Upper limb spasticity, Myoclonus ORPHA:485350
X-Linked Creatine Transporter Deficiency
Ataxia, Chorea, Athetosis, Hypertonia, Dystonia ORPHA:52503
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Impaired tactile sensation, Abnormal repetitive mannerisms, Ataxia, Gait ataxia OMIM:619092
Intellectual Developmental Disorder, X-Linked 12
Tremor, Cryptorchidism, Hyperkinetic movements, Gait disturbance, Spasticity OMIM:300957
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Ataxia, Inability to walk, Opisthotonus, Choreoathetosis, Gait ataxia, Limb h... OMIM:619580
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Spasticity, Myoclonus OMIM:618201
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Inability to walk, Fasciculations ORPHA:206546
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis, Hyperkinetic... OMIM:616271
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Amyotrophy, Monomelic
Fasciculations OMIM:602440
Pyruvate Dehydrogenase E3 Deficiency
Lethargy, Ataxia ORPHA:2394
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebellar atrophy, Cerebral atrophy OMIM:619797
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cerebellar atrophy, Ataxia, Involuntary movements, Inability to walk, Chorea, Cerebral atrophy, D... OMIM:617804
Neutral Lipid Storage Disease With Myopathy
Fasciculations, Difficulty walking OMIM:610717
Glutaric Acidemia I
Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Symmetrical progr... OMIM:231670
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Impaired vibration sensation in the lower limbs, Clumsiness, Steppage gait, Fasciculations, Frequ... ORPHA:521411
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Spasticity, Axonal degeneration, Global brain atrophy OMIM:616811
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Shuffling gait ORPHA:3077
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot... OMIM:611134
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Peho Syndrome
Cerebellar atrophy, Neuronal loss in central nervous system, Myoclonus OMIM:260565
Phosphoserine Aminotransferase Deficiency
Hypertonia, Myoclonus OMIM:610992
Tryptophanuria With Dwarfism
Ataxia, Gait disturbance OMIM:276100
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Memory impairm... ORPHA:98818
Citrullinemia Type I
Lethargy, Ataxia ORPHA:247525
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal brainstem mo... ORPHA:163961
X-Linked Intellectual Disability, Schimke Type
Choreoathetosis, Spasticity ORPHA:85285
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Dementia, Myoclonus, ... OMIM:616640
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Cerebellar atrophy, Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Inability ... ORPHA:466768
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Cerebellar hypoplasia, Dystonia, Truncal ataxia, Intention tremor OMIM:614407
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebellar atrophy, Ataxia, Inability to walk, Unsteady gait, Obesity, Cerebral atrophy, Cerebell... OMIM:618443
Neuroferritinopathy
Resting tremor, Parkinsonism, Writer's cramp, Involuntary movements, Chorea, Babinski sign, Leg d... ORPHA:157846
Leber Optic Atrophy
Postural tremor, Ataxia, Dystonia OMIM:535000
Congenital Disorder Of Glycosylation, Type Ie
Tremor, Pontocerebellar atrophy, Failure to thrive, Ataxia OMIM:608799
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Combined Oxidative Phosphorylation Defect Type 29
Poor coordination, Axonal degeneration, Neurodegeneration, Myoclonic spasms, Diffuse cerebellar a... ORPHA:478029
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Lethargy ORPHA:79312
Maple Syrup Urine Disease
Lethargy, Ataxia OMIM:248600
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia... ORPHA:1215
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Loss of ability to walk in early childhood, Inability to walk, Athetosis, Hyperkinetic movements,... OMIM:612073
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Cachexia, Babinski sign, Dystonia, Spasticity OMIM:618186
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Joubert Syndrome 18
Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis OMIM:614815
Combined Oxidative Phosphorylation Deficiency 39
Cerebellar atrophy, Involuntary movements, Babinski sign, Cerebral atrophy, Ankle clonus, Dystoni... OMIM:618397
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Limb ataxia, Hand tremor, Tongue fasciculations, Fasciculations OMIM:607596
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot... OMIM:614175
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Cerebellar atrophy, Cryptorchidism, Partial absence of cerebellar vermis, Unsteady gait, Cerebell... ORPHA:329224
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy OMIM:617105
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Alg1-Cdg
Cerebellar atrophy, Cerebral atrophy ORPHA:79327
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168600
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Periodic paralysis OMIM:614198
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Hypogonadism, Ataxia OMIM:610651
Piebald Trait With Neurologic Defects
Ataxia OMIM:172850
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Pontocerebellar Hypoplasia, Type 4
Spasticity, Hypertonia, Myoclonus OMIM:225753
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis ORPHA:140989
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Abnormal cerebellum morphology, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue fa... OMIM:211530
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebral atrophy, Cerebellar vermis atrophy OMIM:615760
Childhood Absence Epilepsy
Limb myoclonus, Abnormal social behavior, Jerky head movements ORPHA:64280
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc... ORPHA:442835
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia ORPHA:70594
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Cryptorchidism, Neurodeg... OMIM:214150
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly OMIM:614464
Autosomal Recessive Cutis Laxa Type 2A
Ataxia, Inability to walk, Slurred speech, Athetosis, Dystonia, Spasticity ORPHA:357058
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Dandy-Walker malformation OMIM:225790
Joubert Syndrome 7
Molar tooth sign on MRI, Encephalocele, Hypoplasia of the brainstem, Brainstem dysplasia OMIM:611560
Riboflavin Deficiency
Lethargy OMIM:615026
Congenital Disorder Of Glycosylation, Type Id
Cerebellar atrophy, Spastic tetraparesis, Cerebral atrophy, Hypertonia, Failure to thrive OMIM:601110
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Babinski sign, Choreoathetosis, Lower limb hypertonia, Upper limb hypertonia... ORPHA:2524
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:618161
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo... ORPHA:204
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Corpus callosum atrophy, Cerebral atrophy, Brain atrophy, Dystonia, Limb hype... OMIM:616875
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Abnormal eating behavior, Gait disturbance, Abnormality of pain sensation, Recurrent hand... ORPHA:544254
Typhoid
Lethargy, Ataxia ORPHA:99745
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Ataxia, Small for gestational age, Cerebral atrophy, Choreoathetosis, Dystoni... OMIM:615471
Nasu-Hakola Disease
Oculomotor apraxia, Chorea, Spasticity ORPHA:2770
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Increased cerebral lipofuscin, Myoclonus, Intention tremor OMIM:610539
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Ataxia, Cerebral atrophy, Hypertonia, Myoclonus, Spasticity, Failure to thriv... OMIM:618426
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Craniosynostosis 6
Cerebellar atrophy, Spina bifida occulta, Dandy-Walker malformation OMIM:616602
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... OMIM:272750
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Cerebral atrophy OMIM:268020
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
N-Acetylglutamate Synthase Deficiency
Lethargy OMIM:237310
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Paresthesia ORPHA:49827
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Tetrapa... ORPHA:363400
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Spasticity, Oromotor apraxia ORPHA:466934
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebellar atrophy, Ataxia, Large for gestational age, Babinski sign, Cerebral atrophy, Ankle clo... OMIM:615398
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Chorea, Ataxia, Spasticity ORPHA:70472
Juvenile Absence Epilepsy
Myoclonus ORPHA:1941
Myoclonic Epilepsy Of Infancy
Hemiplegia, Poor motor coordination, Myoclonus, Poor hand-eye coordination ORPHA:86909
Choreoacanthocytosis
Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impai... ORPHA:2388
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Chorea, Spasticity OMIM:620149
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... ORPHA:43
Mevalonic Aciduria
Cerebellar atrophy, Agenesis of cerebellar vermis, Ataxia, Failure to thrive in infancy, Cerebral... OMIM:610377
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola... OMIM:609454
Cog5-Cdg
Cerebellar atrophy, Neurogenic bladder, Diffuse cerebral atrophy, Atrophy/Degeneration affecting ... ORPHA:263487
Combined Oxidative Phosphorylation Deficiency 2
Lethargy OMIM:610498
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Paroxysmal dystonia, Weakness due to upper motor neuron dysfunction, Progr... ORPHA:466722
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Cystathioninuria
Tremor ORPHA:212
Holocarboxylase Synthetase Deficiency
Lethargy, Ataxia ORPHA:79242
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy ORPHA:28
Central Diabetes Insipidus
Lethargy, Depression ORPHA:178029
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Neurogenic bladder, Ataxia, Tetraplegia, Fasciculations, Progressive spastici... ORPHA:496641
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Attention de... ORPHA:467166
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Bradykinesia, Blepharospasm, Fal... ORPHA:683
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Mitochondrial Dna Depletion Syndrome 11
Cerebellar atrophy OMIM:615084
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:255182
Microhydranencephaly
Athetosis, Spastic tetraplegia OMIM:605013
Developmental And Epileptic Encephalopathy 95
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, Cryptorchidism, Cerebral a... OMIM:618143
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Myoclonus, Atrophy/Degeneration a... OMIM:614946
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Limb dystonia ORPHA:25
Gm2 Gangliosidosis, Ab Variant
Progressive spastic quadriplegia, Chorea, Abnormal pyramidal sign, Exaggerated startle response ORPHA:309246
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Premature ova... OMIM:212065
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Limb ataxia,... OMIM:248500
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Bilateral Polymicrogyria
Cerebellar atrophy, Spastic tetraparesis, Spastic hemiparesis, Abnormal pyramidal sign, Pseudobul... ORPHA:268940
Dihydropyrimidinase Deficiency
Lethargy OMIM:222748
Ogden Syndrome
Abnormal head movements, Torticollis, Hypertonia, Shuffling gait ORPHA:276432
Fragile X Syndrome
Abnormal head movements OMIM:300624
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Cerebral palsy, Ataxia, Abnormal neuron morphology, Obesity, Cerebellar ve... ORPHA:163681
Alexander Disease Type Ii
Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor ORPHA:363722
D-Glyceric Aciduria
Chorea, Myoclonus, Spasticity ORPHA:941
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis OMIM:618857
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Delayed myelination, Spastic tetraplegia, Athetosis, Hypertonia, Hypogonadism, Cerebral hypomyeli... ORPHA:79351
Autosomal Dominant Optic Atrophy And Cataract
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity... ORPHA:67036
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Cryptorchidism, Compulsive behaviors, Attention de... ORPHA:352490
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy, Ataxia ORPHA:927
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Chorea OMIM:616744
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Cerebellar atrophy, Bilateral cryptorchidism, Opisthotonus OMIM:619685
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy OMIM:613561
Leukodystrophy, Hypomyelinating, 12
Cerebellar atrophy, Spasticity OMIM:616683
Hsd10 Disease, Infantile Type
Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Hyperkinetic movement... ORPHA:391428
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:608629
Joubert Syndrome 1
Hyperactivity, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplasia, ... OMIM:213300
Ritscher-Schinzel Syndrome 4
Athetosis, Chorea, Ataxia, Cryptorchidism OMIM:619435
Birk-Aharoni Syndrome
Chorea, Spastic tetraplegia OMIM:620071
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Crigler-Najjar Syndrome Type 1
Tremor ORPHA:79234
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Corpus callosum atrophy, Dystonic gait, Cerebral atrophy, Diffuse cerebellar atrophy, Limb hypert... ORPHA:480898
Joubert Syndrome 9
Molar tooth sign on MRI, Encephalocele OMIM:612285
Pandas
Chorea, Clumsiness ORPHA:66624
Pontocerebellar Hypoplasia, Type 7
Ataxia, Cryptorchidism, Spastic paraplegia, Opisthotonus, Choreoathetosis, Hypertonia, Tongue fas... OMIM:614969
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Spasticity, Neuronal loss in central nervous system, Neurodegeneration OMIM:616239
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Tremor, Inability to walk, Hypertonia, Ataxia OMIM:619556
Slc35A2-Cdg
Cerebellar atrophy, Failure to thrive in infancy, Spastic tetraparesis, Inability to walk, Cerebr... ORPHA:356961
Narp Syndrome
Progressive gait ataxia, Babinski sign, Ataxia, Myoclonic spasms ORPHA:644
Systemic Lupus Erythematosus 17
Chorea OMIM:301080
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Babinski sign, Truncal ataxia, Myoclonus, Dystonia, Spasticity OMIM:252011
Pelizaeus-Merzbacher Disease
Ataxia, Choreoathetosis, Gait disturbance, Dystonia, Spasticity ORPHA:702
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Decrease... ORPHA:33543
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia ORPHA:36387
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hypoesthesia, Vocal cord paralysis, Hand paresthesia OMIM:162500
Riboflavin Transporter Deficiency
Hypogonadism, Ataxia, Tremor, Myoclonus ORPHA:97229
Multifocal Motor Neuropathy
Fasciculations ORPHA:641
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Ataxia OMIM:614299
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Gait imbalance, Inappropria... ORPHA:411511
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Ataxia ORPHA:42
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cerebellar atrophy, Failure to thrive, Spasticity, Hypertonia ORPHA:544503
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Abnormal social behavior ORPHA:1020
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Chorea, Babinski sign, Ataxia OMIM:604168
Medulloblastoma
Ataxia, Cerebellar calcifications, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cereb... ORPHA:616
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism ORPHA:178509
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Abnormal repetitive mannerisms, Difficulty walking, Gait ataxia OMIM:617807
Developmental And Epileptic Encephalopathy 64
Inability to walk, Chorea, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms OMIM:618004
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Ataxia, Postural tremor, Babinski sign, Truncal obesity, Lower limb hypertoni... OMIM:301072
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Failure to thrive, Global brain atrophy OMIM:608776
Lamb-Shaffer Syndrome
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Abnormal temper tantrums ORPHA:530983
Rett Syndrome, Congenital Variant
Chorea, Delayed myelination, Athetosis, Dystonia, Spasticity, Apraxia OMIM:613454
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy ORPHA:276608
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Ataxia, Small for gestational age, Inability to walk, ... OMIM:617799
Horner Syndrome, Congenital
Paralysis OMIM:143000
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Cerebellar atrophy, Dysdiadochokinesis, Ataxia, Intention tremor OMIM:612780
Developmental And Epileptic Encephalopathy 54
Myoclonus OMIM:617391
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
48,Xxyy Syndrome
Ataxia, Hypergonadotropic hypogonadism, Cryptorchidism, Azoospermia, Infertility, Attention defic... ORPHA:10
Gaucher Disease, Type Iii
Ataxia, Myoclonus, Spastic paraparesis OMIM:231000
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... ORPHA:85327
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Brain atrophy, Limb dystonia, Neuronal loss in central nerv... OMIM:604377
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compulsive behaviors, Att... OMIM:300986
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Hypogonadism, Decreased testicular size, Ataxia OMIM:201100
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal sensory impairment OMIM:607734
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Ataxia, Inability to walk, Chorea, Cryptorchidism, Repetitive compulsive beha... OMIM:300260
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Abnormality of extrapyramidal motor function, Myoclonus OMIM:604218
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy ORPHA:89844
Hyperekplexia 4
Hypertonia, Myoclonus OMIM:618011
Joubert Syndrome 14
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Mening... OMIM:614424
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
3-Methylglutaconic Aciduria, Type Viia
Cerebellar atrophy OMIM:619835
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks ORPHA:2898
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Babinski sign, Hoffmann sign... OMIM:601162
Developmental And Epileptic Encephalopathy 29
Blepharospasm, Chorea, Spasticity OMIM:616339
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Abnormal repetitive mannerisms OMIM:613443
Pontocerebellar Hypoplasia, Type 8
Involuntary movements, Chorea, Gait ataxia, Hypertonia, Spasticity OMIM:614961
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive Romberg s... OMIM:105210
Lhermitte-Duclos Disease
Hydrocephalus, Enlarged cerebellum, Ataxia ORPHA:65285
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Shuffling gait, Parkinsonism with... ORPHA:411602
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... OMIM:619121
Intellectual Developmental Disorder, Autosomal Dominant 45
Chorea, Cerebral palsy, Myoclonus OMIM:617600
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... OMIM:608747
Leigh Syndrome
Ataxia, Involuntary movements, Chorea, Spastic diplegia, Choreoathetosis, Athetosis, Hyperkinetic... ORPHA:506
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Decreased mitochondrial number ORPHA:352447
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Spasticity, Abnormal mitochondrial shape ORPHA:485421
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Hyp... ORPHA:449291
Argininemia
Cerebellar atrophy, Progressive spastic quadriplegia, Spastic paraparesis, Frequent falls, Spasti... OMIM:207800
Cutis Laxa, Autosomal Recessive, Type Iiia
Athetosis, Cryptorchidism OMIM:219150
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cerebellar atrophy OMIM:618541
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Hyp... OMIM:203700
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Abnormal repetitive mannerisms OMIM:619877
Lead Poisoning
Somatic sensory dysfunction, Decreased female libido, Abnormality of the menstrual cycle, Poor gr... ORPHA:330015
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Combined Oxidative Phosphorylation Deficiency 52
Lethargy OMIM:619386
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ataxia, Cryptorchidism, Dysmetria, Truncal obesity, Dysdiadochokinesis, Gait di... OMIM:616541
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Olivopon... ORPHA:370959
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Spasticity, Kinetic tremor, Truncal ataxia, Gait ataxia OMIM:616817
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Bruxism OMIM:616351
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann sign, Limb myocl... ORPHA:139396
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence, Neurodegeneration... OMIM:146500
Cadds
Cerebellar atrophy ORPHA:369942
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Myoclonus OMIM:619057
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Stereotypical bod... OMIM:617865
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Isometric tremor, Ataxia, Clonus, Torticollis, Cerebral palsy, Head titubation,... OMIM:619475
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Abnormal dentate nucleus morphology,... ORPHA:909
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Metachromatic Leukodystrophy, Late Infantile Form
Babinski sign, Spasticity, Clumsiness, Gait ataxia, Progressive gait ataxia, Tip-toe gait, Decere... ORPHA:309256
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor OMIM:619790
Biotinidase Deficiency
Diffuse cerebral atrophy, Diffuse cerebellar atrophy, Ataxia OMIM:253260
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho... OMIM:617675
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance ORPHA:83629
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Gait disturbance, Myoclonus, Apraxia, Spasticity OMIM:221770
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hem... OMIM:618325
Japanese Encephalitis
Dystonia, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Paucity of anterior ... ORPHA:79139
Juvenile Myoclonic Epilepsy
Morning myoclonic jerks ORPHA:307
Leukodystrophy, Hypomyelinating, 10
Inability to walk, Spasticity, Babinski sign, Hyperkinetic movements OMIM:616420
47,Xyy Syndrome
Hyperactivity, Impulsivity, Hydrocephalus, Abnormal brainstem morphology, Attention deficit hyper... ORPHA:8
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Abnormal repetitive mannerisms ORPHA:411986
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Failure to thrive, Ataxia, Tremor, Rigidity, Gait ataxia, Cog... ORPHA:254892
Brody Disease
Fasciculations OMIM:601003
Developmental And Epileptic Encephalopathy 84
Chorea, Babinski sign, Spasticity, Opisthotonus OMIM:618792
Joubert Syndrome 2
Encephalocele, Agenesis of cerebellar vermis, Brainstem dysplasia, Hydrocephalus, Hypoplasia of t... OMIM:608091
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Cerebellar atrophy, Cerebral cortical atrophy, Cerebellar hypoplasia OMIM:617763
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Ataxia OMIM:201470
Variegate Porphyria
Paralysis OMIM:176200
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Recurrent hand flapping, Gait disturbance, Agitation, Bruxism OMIM:617903
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Lethargy OMIM:277410
Joubert Syndrome 37
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:619185
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesi... ORPHA:309854
Rett Syndrome
Inability to walk, Gait disturbance, Agitation, Difficulty walking, Abnormal repetitive mannerism... ORPHA:778
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... OMIM:618825
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Loss of ambulation, Mitochondrial hypertrophy, Sensorineural hearing impairment OMIM:619518
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Fasciculations OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Fasciculations OMIM:616437
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Cerebral atrophy OMIM:614857
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Hypertonia, Gait disturbance ORPHA:1192
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Dysesthesia, Myelopathy, Babinski sign, Vocal cord paralysis, Gait a... ORPHA:268882
Slc39A8-Cdg
Cerebellar atrophy, Failure to thrive in infancy, Inability to walk, Dystonia, Cerebral cortical ... ORPHA:468699
New-Onset Refractory Status Epilepticus
Cerebellar edema, Abnormal head movements ORPHA:363558
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebellar atrophy, Large for gestational age, Tremor, Cerebral atrophy, Choreoathetosis, Hydroce... OMIM:614080
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Ataxia-Telangiectasia
Ataxia, Female hypogonadism, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progress... OMIM:208900
Nipah Virus Disease
Tremor, Myoclonus ORPHA:99825
Birk-Landau-Perez Syndrome
Limb ataxia, Choreoathetosis, Difficulty walking, Dystonia, Oculomotor apraxia, Limb hypertonia OMIM:617595
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Inability to walk, Broad-based gait, Myoclonus OMIM:616158
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Attention deficit hyperactivity disorder, Recurrent hand flapping, Compulsive behaviors OMIM:620021
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Schindler Disease, Type I
Spasticity, Myoclonus OMIM:609241
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy OMIM:619064
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spastic diplegia, Gait disturba... OMIM:300966
Pantothenate Kinase-Associated Neurodegeneration
Dystonia, Parkinsonism, Rigidity, Slurred speech, Leg dystonia, Choreoathetosis, Tip-toe gait, Ga... ORPHA:157850
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Metachromatic Leukodystrophy
Ataxia, Chorea, Babinski sign, Spastic tetraplegia, Tetraplegia OMIM:250100
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Ab... OMIM:600430
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Compulsive behaviors, Abnormal repetitive mannerisms OMIM:618430
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620292
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Pain insensitivity, Torticollis, Cryptorchidism, Inability to walk by childhood/adolescence, Chor... OMIM:620224
O'Sullivan-Mcleod Syndrome
Tremor, Fasciculations ORPHA:99965
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Broad-based gait, Abnormal repetitive mannerisms OMIM:618067
Galloway-Mowat Syndrome 1
Cerebellar atrophy, Ataxia, Small for gestational age, Spastic tetraplegia, Cerebral atrophy, Dys... OMIM:251300
Posttransplant Acute Limbic Encephalitis
Ataxia, Myoclonus, Dystonia ORPHA:163921
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Pontocerebellar Hypoplasia, Type 2A
Chorea, Extrapyramidal dyskinesia, Opisthotonus OMIM:277470
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Aggressive behavior, Cryptorchidism, Fixated interests, Tics, Attentio... OMIM:617788
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Communicating hydrocephalus, Large for gestational age, Gait ataxia, Cerebral... OMIM:617011
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Bruxism, Abnormal r... OMIM:618342
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Chorea, Spastic tetraplegia, Hypertonia, Spasticity OMIM:617864
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar h... OMIM:619306
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Multifocal Atrial Tachycardia
Lethargy, Cryptorchidism ORPHA:3282
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Spasticity, Ataxia, Intention tremor OMIM:117300
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ataxia, Cryptorchidism, Abnormal pyramidal sign, Spastic tetraplegia, Athetosis, Abnormality of e... ORPHA:2719
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episo... ORPHA:1934
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short attention span, Abnormal mitochondrial shape, Sensorineural hearing impairment, Unsteady ga... ORPHA:17
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Self hugging, Head-banging, Onychotillomania, Abnormal re... OMIM:182290
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy ORPHA:276556
Combined Oxidative Phosphorylation Deficiency 25
Hypoplasia of the pons, Cerebellar atrophy, Cerebral atrophy OMIM:616430
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Cryptorchidism, Self-biting, Hypogonadism, Abnormal repetitiv... ORPHA:3306
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Cerebellar atrophy, Cerebral atrophy, Hippocampal atrophy, Failure to thrive, Limb hypertonia OMIM:618922
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
De Sanctis-Cacchione Syndrome
Ataxia, Bilateral cryptorchidism, Babinski sign, Scissor gait, Choreoathetosis, Hypertonia, Leuko... OMIM:278800
Barth Syndrome
Macrotia, Gait disturbance, Abnormal mitochondrial morphology OMIM:302060
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Cerebellar atrophy, Failure to thrive, Ataxia, Dysmetria OMIM:616263
Sandifer Syndrome
Abnormal head movements, Torticollis ORPHA:71272
Glossopharyngeal Neuralgia
Chiari type I malformation, Dysesthesia, Vocal cord paralysis, Weight loss ORPHA:221098
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations, Pa... ORPHA:682
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Spasticity, Cerebral palsy, Spastic tetraplegia OMIM:615474
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Frequent falls, Abnormal auditory evoked potentials OMIM:617523
Metachromatic Leukodystrophy, Juvenile Form
Babinski sign, Clumsiness, Progressive gait ataxia, Decerebrate rigidity, Dystonia, Spasticity, F... ORPHA:309263
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebral atrophy, Cerebellar hyp... OMIM:618590
Muscular Dystrophy, Congenital, Megaconial Type
Waddling gait, Mitochondrial hypertrophy OMIM:602541
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy ORPHA:276575
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Athetosis, Delayed myelination OMIM:239300
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Progressive choreoathetosis, Par... OMIM:200150
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Hypotonia, Ataxia, And Delayed Development Syndrome
Cerebellar atrophy, Speech apraxia, Pain insensitivity, Cerebellar vermis hypoplasia, Ataxia, Bro... OMIM:617330
Morgagni-Stewart-Morel Syndrome
Cerebral cortical atrophy, Brain atrophy, Action tremor ORPHA:77296
Dilated Cardiomyopathy With Ataxia
Lower limb spasticity, Dystonia, Ataxia, Atrophy/Degeneration affecting the brainstem, Action tremor ORPHA:66634
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy ORPHA:276580
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Tremor, Fasciculations, Difficulty walking, Frequent falls ORPHA:329478
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Midline brainstem cleft OMIM:617542
Hypercalcemia, Infantile, 1
Lethargy OMIM:143880
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Mitochondrial swelling, Vocal cord paralysis, Bilateral sensorineural hearing impairment ORPHA:397744
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Cerebellar atrophy, Cryptorchidism, Cerebral atrophy OMIM:618659
Isovaleric Acidemia
Lethargy OMIM:243500
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614618
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy ORPHA:324575
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Cerebral palsy, Spastic paraplegia ORPHA:369929
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Premature ovarian insufficiency, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Fetal Akinesia Deformation Sequence
Akinesia, Dandy-Walker malformation ORPHA:994
Familial Cervical Artery Dissection
Paresthesia, Paralysis ORPHA:36382
Symptomatic Form Of Hfe-Related Hemochromatosis
Hypogonadotropic hypogonadism, Apathy, Infertility, Erectile dysfunction, Lethargy, Testicular at... ORPHA:465508
Trichotillomania
Hair-pulling OMIM:613229
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Lethargy, Chorea, Ataxia, Gait ataxia OMIM:618321
Insulinoma
Abnormality of pain sensation, Lethargy, Paresthesia ORPHA:97279
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Delayed CNS myelination, Involuntary movements, Chorea, Delayed myelination, ... OMIM:615273
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, Cerebral atrophy, Hypertonia, Hyperkinetic movements, Tetraparesis, Dystonia,... OMIM:619124
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cerebellar atrophy, Inability to walk, Global brain atrophy, Truncal ataxia OMIM:620066
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Abnormal repetitive mannerisms, Attention deficit hyperactivity ... OMIM:618205
Joubert Syndrome 39
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia OMIM:619562
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Ataxia, Choreoathetosis, Difficulty walking, Dystonia OMIM:610978
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy OMIM:618232
Brain-Lung-Thyroid Syndrome
Dystonia, Ataxia, Incoordination, Involuntary movements, Chorea, Clumsiness, Choreoathetosis, Fal... ORPHA:209905
Metachromatic Leukodystrophy, Adult Form
Chorea, Babinski sign, Clumsiness, Progressive spastic quadriplegia, Progressive gait ataxia, Dec... ORPHA:309271
Hyperekplexia 1
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls OMIM:149400
Joubert Syndrome 5
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... OMIM:610188
Takenouchi-Kosaki Syndrome
Cerebellar atrophy, Ataxia, Cryptorchidism, Cerebellar hypoplasia, Cerebral cortical atrophy OMIM:616737
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Hydrocephalus, Failure to thrive, Cerebral atrophy OMIM:614576
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the pons, Vocal cord paralysis, Myoclonus, Dystonia, Spasticity, Cerebral cortical ... ORPHA:500144
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Positive Romberg sign, Cerebellar hypo... ORPHA:314647
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Gait imbalan... ORPHA:98794
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Rigidity, Progressive spastic quadriplegia, Abnormality of extrapyr... ORPHA:521426
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Cryptorchidism, Gait ataxia, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Sandhoff Disease
Exaggerated startle response, Ataxia, Impaired temperature sensation, Impotence, Fasciculations, ... OMIM:268800
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypertonia, Spastic tetraplegia, Akinesia OMIM:619147
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Gait imbalance, Re... OMIM:601104
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the c... OMIM:216360
Inclusion Body Myopathy And Brain White Matter Abnormalities
Babinski sign, Fasciculations OMIM:619733
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Cerebellar atrophy, Cerebral atrophy OMIM:616266
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Oculomotor apraxia,... OMIM:615960
Transcobalamin Ii Deficiency
Lethargy, Ataxia OMIM:275350
Lesch-Nyhan Syndrome
Opisthotonus, Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia, Spasticity... OMIM:300322
Glutaric Acidemia Type 3
Lethargy ORPHA:35706
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus ORPHA:2318
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Abnormal myelination, Inability to walk, Chorea, Delayed myelination, Athetosis, Hyperkinetic mov... ORPHA:404454
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Bru... OMIM:300912
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Hypertonia, Myoclonus OMIM:617290
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonus, ... OMIM:619847
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Chorea, Truncal ataxia ORPHA:369840
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebellar atrophy, Cerebral atrophy, Limb hypertonia OMIM:620306
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
Joubert Syndrome With Renal Defect
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus ORPHA:220497
Infantile Liver Failure Syndrome 2
Lethargy OMIM:616483
Evans Syndrome
Lethargy ORPHA:1959
Nabais Sa-De Vries Syndrome, Type 2
Hemiparesis, Chorea OMIM:618829
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, My... ORPHA:79279
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Spasticity, Failure to thrive, Cerebellar hypoplasia OMIM:618329
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity ORPHA:803
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Microtriplication 11Q24.1
Speech apraxia, Hyperkinetic movements ORPHA:289522
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Cerebellar... ORPHA:370997
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Overfriendliness, Impaired pain sensation, Abnormal repetitive mannerisms, Gait ataxia OMIM:616579
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Episodic ataxia, Lethargy, Ataxia OMIM:311250
Neurodevelopmental Disorder With Spasticity And Poor Growth
Generalized dystonia, Ataxia, Clonus, Babinski sign, Opisthotonus, Limb hypertonia, Myoclonus, Ce... OMIM:618076
Pyridoxal Phosphate-Responsive Seizures
Hypertonia, Unsteady gait, Myoclonus ORPHA:79096
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Recurrent hand flapping, Unsteady gait, Pica OMIM:618480
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ... ORPHA:447753
Amish Nemaline Myopathy
Tremor ORPHA:98902
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Chorea, Delayed myelination, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Dyst... ORPHA:522077
Peho Syndrome
Cerebellar atrophy, Hydrocephalus, Cerebral cortical atrophy, Atrophy/Degeneration affecting the ... ORPHA:2836
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hypertonia, Myoclonus OMIM:618240
Niemann-Pick Disease Type C
Speech apraxia, Lower limb spasticity, Axial dystonia, Dystonia, Ataxia, Tremor, Chorea, Upper mo... ORPHA:646
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second... ORPHA:90796
Cri-Du-Chat Syndrome
Hyperactivity, Aggressive behavior, Cryptorchidism, Difficulty walking, Abnormal repetitive manne... OMIM:123450
Amoebiasis Due To Free-Living Amoebae
Restlessness, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brain... ORPHA:68
Citrullinemia Type Ii
Restlessness, Hyperactivity, Hypertriglyceridemia, Hypercholesterolemia, Confusion, Abnormal eati... ORPHA:247585
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Cerebellar cyst OMIM:615181
Developmental And Epileptic Encephalopathy 23
Myoclonus OMIM:615859
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Ataxia, Gait disturbance ORPHA:395
Citrullinemia, Classic
Lethargy, Ataxia OMIM:215700
Hemimegalencephaly
Hemiparesis, Myoclonus ORPHA:99802
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Ataxia OMIM:619428
Dyskeratosis Congenita, Autosomal Recessive 8
Cerebellar atrophy OMIM:620133
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin... OMIM:609152
Rett Syndrome
Gait apraxia, Truncal ataxia, Gait ataxia, Bruxism, Stereotypical hand wringing OMIM:312750
Sim1-Related Prader-Willi-Like Syndrome
Hypogonadotropic hypogonadism, Impaired temperature sensation, Cryptorchidism, Primary amenorrhea... ORPHA:398079
Tarp Syndrome
Neonatal death, Athetosis OMIM:311900
Xeroderma Pigmentosum, Complementation Group A
Choreoathetosis, Spasticity, Ataxia, Distal sensory impairment OMIM:278700
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Broad-based gait, Axonal degeneration, Vocal cord paralysis OMIM:615490
Carnitine Deficiency, Systemic Primary
Lethargy OMIM:212140
Duplication Of The Pituitary Gland
Encephalocele, Abnormal midbrain morphology, Self-mutilation ORPHA:314621
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hyp... ORPHA:444072
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Gait imbalance, Attention deficit hyperactivity disorde... OMIM:619312
Sialidosis Type 1
Ataxia, Tremor, Slurred speech, Gait disturbance, Myoclonus ORPHA:812
Rheumatic Fever
Hemiballismus, Chorea, Fasciculations ORPHA:3099
Chédiak-Higashi Syndrome
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Parkinsonism, Tremor, Inability to walk,... ORPHA:167
Juvenile Sialidosis Type 2
Lower limb spasticity, Ataxia, Dysmetria, Myoclonus, Loss of ambulation, Spasticity ORPHA:93399
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Failure to thrive OMIM:610131
Joubert Syndrome With Ocular Defect
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus ORPHA:220493
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy OMIM:611590
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy ORPHA:2089
Alazami Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... ORPHA:319671
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... OMIM:243910
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy ORPHA:156
Mitochondrial Dna Depletion Syndrome 19
Spasticity, Myoclonus, Tetraparesis OMIM:618972
Cutis Laxa, Autosomal Recessive, Type Iiib
Athetosis, Cryptorchidism OMIM:614438
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Inability to walk, Bruxism OMIM:615716
Meningococcal Meningitis
Lethargy, Paresthesia ORPHA:33475
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag... OMIM:609136
Severe Oculo-Renal-Cerebellar Syndrome
Choreoathetosis, Spasticity, Spastic diplegia ORPHA:2715
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Failure to thrive, Small for gestational age, Cryptorchidism, Spina bifida oc... OMIM:193700
Alternating Hemiplegia Of Childhood
Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ... ORPHA:2131
Infantile Krabbe Disease
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction... ORPHA:206436
Developmental And Epileptic Encephalopathy 101
Myoclonus, Opisthotonus OMIM:619814
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Joubert Syndrome 38
Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia OMIM:619476
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... ORPHA:95699
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Hypoplasia of the midbrain, Cerebellar hypoplasia, Aggressive behavior OMIM:616202
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder OMIM:617808
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior ORPHA:444002
Ververi-Brady Syndrome
Unsteady gait, Intention tremor OMIM:617982
Cockayne Syndrome A
Cerebellar atrophy, Ataxia, Tremor, Cryptorchidism, Irregular menstruation, Cerebral atrophy, Nor... OMIM:216400
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Myoclonus, Abnormal myelination ORPHA:289266
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Rigidity, Myoclonus OMIM:300673
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Small for gestational age, Cryptorchidism, Athetosis, Cerebellar hypoplasia, ... OMIM:614866
Joubert Syndrome 8
Molar tooth sign on MRI, Occipital encephalocele OMIM:612291
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Gait ataxia, Positive Romberg sign,... ORPHA:70595
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Congenital Myopathy 12
Akinesia OMIM:612540
Stiff-Person Syndrome
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls OMIM:184850
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy OMIM:201450
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar atrophy, Cerebellar vermis hypoplasia, Failure to thrive in infancy, Cryptorchidism, C... OMIM:611209
Chronic Bilirubin Encephalopathy
Cerebral palsy, Hypertonia, Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia ORPHA:208447
Acute Bilirubin Encephalopathy
Hypertonia, Sensorineural hearing impairment, Cerebral palsy, Abnormal auditory evoked potentials ORPHA:529799
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Tongue thrusting, Gait imbalance, Dysphagia ORPHA:98795
Propionic Acidemia
Lethargy OMIM:606054
Microcephaly, Amish Type
Myoclonus, Limb hypertonia OMIM:607196
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Meningocel... ORPHA:397715
Familial Thyroid Dyshormonogenesis
Lethargy ORPHA:95716
Proximal 16P11.2 Microdeletion Syndrome
Choreoathetosis, Dystonia, Speech apraxia, Paroxysmal dyskinesia ORPHA:261197
Gangliocytoma
Abnormal cerebellum morphology, Polyphagia, Abnormal brainstem morphology ORPHA:251937
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Cystinosis
Abnormal repetitive mannerisms, Polydipsia, Gait disturbance ORPHA:213
Dpagt1-Cdg
Ataxia, Akinesia, Tremor, Inability to walk, Abnormal cerebellum morphology, Hypertonia, Cerebell... ORPHA:86309
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Ataxia, Babinski sign, Tongue fasciculations, Spasticity, Failure to thrive OMIM:252010
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Tip-toe gait ORPHA:746
Holoprosencephaly 14
Cerebellar atrophy, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Partial absence... OMIM:619895
Cockayne Syndrome Type 1
Lower limb spasticity, Absent brainstem auditory responses, Ataxia, Tremor, Cryptorchidism, Optic... ORPHA:90321
Unilateral Polymicrogyria
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... ORPHA:268943
Potocki-Lupski Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia OMIM:610883
Carnitine Palmitoyltransferase I Deficiency
Lethargy OMIM:255120
Tick-Borne Encephalitis
Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Incoordinatio... ORPHA:297
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Cryptorchidism, Abno... ORPHA:468631
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, Abnormal pyramidal sign... ORPHA:306674
Fatal Familial Insomnia
Ataxia, Myoclonus OMIM:600072
Alpha-Mannosidosis, Infantile Form
Cerebellar atrophy, Communicating hydrocephalus, Ataxia, Spastic paraplegia, Clumsiness, Subcorti... ORPHA:309282
Smith-Magenis Syndrome
Impaired pain sensation, Self-injurious behavior, Gait disturbance, Attention deficit hyperactivi... ORPHA:819
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Weight loss, Periodic paralysis OMIM:613239
Congenital Myopathy 15
Waddling gait, Vocal cord paralysis OMIM:620161
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar toot... OMIM:616546
De Barsy Syndrome
Athetosis, Progressive cerebellar ataxia, Cryptorchidism ORPHA:2962
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Bilateral cryptorchidism, Cryptorchidism, Pica, Obsessive-compulsive trait, Abnorm... OMIM:617796
Xeroderma Pigmentosum, Complementation Group D
Choreoathetosis, Spasticity, Ataxia OMIM:278730
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
Poliomyelitis
Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Paresthesia, Fasciculations ORPHA:2912
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aggressive behavior, Gait disturbance, Attention deficit hyperactivity disorder... OMIM:300352
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Lethargy, Spastic gait, Progressive cerebellar ataxia ORPHA:415
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Exaggerated startle response, Hypertonia, Spasticity OMIM:618367
African Trypanosomiasis
Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Ab... ORPHA:3385
Neuraminidase Deficiency
Slurred speech, Myoclonus, Dysmetria OMIM:256550
Pettigrew Syndrome
Choreoathetosis, Spasticity, Gait ataxia OMIM:304340
Distal Xq28 Microduplication Syndrome
Impulsivity, Aggressive behavior, Self-biting, Stereotypical body rocking, Tip-toe gait, Attentio... ORPHA:293939
Magel2-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Cryptorchidism, Primary amenorrhea, Hypogonadism, Infertility, Le... ORPHA:398069
Apparent Mineralocorticoid Excess
Polydipsia, Decreased circulating aldosterone level, Abnormality of circulating cortisol level, D... ORPHA:320
Angelman Syndrome
Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Tongue thrusting... ORPHA:72
Galloway-Mowat Syndrome 3
Cerebellar atrophy, Spasticity, Failure to thrive, Cerebral atrophy OMIM:617729
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy OMIM:619103
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Myopathy, Myofibrillar, 2
Fasciculations OMIM:608810
Charcot-Marie-Tooth Disease Type 4B2
Tremor, Inability to walk, Vocal cord paralysis, Distal sensory impairment, Poor fine motor coord... ORPHA:99956
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Fasciculations, Upper motor neuron dysfunction ORPHA:52430
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Babinski sign, Impaired d... OMIM:607459
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ... OMIM:606232
Monosomy 18Q
Choreoathetosis, Bilateral cryptorchidism, Poor coordination, Abnormal myelination ORPHA:1600
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia... OMIM:617061
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tremor, Athetosis, Delayed myelination, Hydrocele testis ORPHA:280633
Mcleod Syndrome
Chorea, Impaired vibration sensation at ankles OMIM:300842
Argininosuccinic Aciduria
Lethargy, Ataxia OMIM:207900
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Transketolase Deficiency
Secondary amenorrhea, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsi... ORPHA:488618
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Coffin-Siris Syndrome 7
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors OMIM:618027
Tetanus
Tremor, Rigidity, Opisthotonus, Hypertonia, Spasticity of pharyngeal muscles ORPHA:3299
3-Hydroxy-3-Methylglutaric Aciduria
Lethargy, Apathy, Ataxia ORPHA:20
White-Sutton Syndrome
Cerebellar atrophy, Incoordination, Hypoplasia of the pons, Obesity, Subcortical cerebral atrophy... ORPHA:468678
Methylcobalamin Deficiency Type Cble
Lethargy ORPHA:2169
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity disorder,... ORPHA:476126
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Abnormal temper tantrums, Abnormal repetitive mannerisms ORPHA:457279
Neurogenic Arthrogryposis Multiplex Congenita
Fasciculations ORPHA:1143
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy OMIM:210200
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Hypogonadotropic hypogonadism, Unilateral vocal cord paralysis, Cerebral atro... OMIM:301030
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Myoclonus OMIM:560000
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity ORPHA:2828
Isolated Complex I Deficiency
Lethargy, Ataxia ORPHA:2609
Dengue Fever
Lethargy ORPHA:99828
Chromosome 15Q11.2 Deletion Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Ataxia, Compulsive beha... OMIM:615656
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior OMIM:618914
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy OMIM:251000
Multiple Mitochondrial Dysfunctions Syndrome 1
Lethargy OMIM:605711
Congenital Disorder Of Glycosylation, Type Ig
Lethargy, Cryptorchidism OMIM:607143
Alexander Disease
Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Spasticity ORPHA:58
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Stillbirth, Cerebellar hypoplasia, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:616300
4Q21 Microdeletion Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:238750
Gaucher Disease, Perinatal Lethal
Akinesia, Opisthotonus OMIM:608013
Lathosterolosis
Meningocele, Chiari malformation, Myoclonus, Failure to thrive, Cerebellar cortical atrophy ORPHA:46059
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy OMIM:201475
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Ataxia, Cerebral atrophy, Spasticity, Failure to thrive OMIM:124000
Scrub Typhus
Lethargy ORPHA:83317
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Lethargy ORPHA:263455
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypertonia, Myoclonus, Spastic tetraparesis ORPHA:284417
Biotinidase Deficiency
Lethargy, Ataxia ORPHA:79241
Cockayne Syndrome
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Cachexia, Action tremor, Inability to wa... ORPHA:191
Fructose-1,6-Bisphosphatase Deficiency
Lethargy OMIM:229700
Trichothiodystrophy
Cryptorchidism, Abnormal pyramidal sign, Gait ataxia, Hypertonia, Intention tremor, Spasticity, D... ORPHA:33364
Pseudo-Torch Syndrome 2
Lethargy OMIM:617397
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ankle clonus, Lower limb hypertonia, Frequent falls, Intention tremor OMIM:619995
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Tetraplegia, Weight loss, Cerebr... OMIM:615846
Knobloch Syndrome 1
Cerebellar atrophy, Occipital encephalocele, Ataxia, Cerebral atrophy, Occipital meningocele, Spi... OMIM:267750
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
3P25.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder ORPHA:435638
Developmental And Epileptic Encephalopathy 100
Delayed CNS myelination, Chorea, Gait ataxia, Choreoathetosis, Myoclonus OMIM:619777
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Blepharophimosis-Impaired Intellectual Development Syndrome
Cryptorchidism, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Overfri... OMIM:619293
Combined Oxidative Phosphorylation Deficiency 11
Lethargy OMIM:614922
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Depression ORPHA:99832
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Clonus, Hair-pulling, Protruding ear, Hypertonia, Brain atrophy, Myoclonic... ORPHA:447997
Postpoliomyelitis Syndrome
Fasciculations ORPHA:2942
Snakebite Envenomation
Pseudobulbar paralysis, Respiratory paralysis, Paralysis ORPHA:449285
Chromosome 18Q Deletion Syndrome
Tremor, Chorea, Poor coordination OMIM:601808
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination ORPHA:352682
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Mucopolysaccharidosis, Type Iiid
Cerebellar atrophy, Difficulty walking OMIM:252940
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors OMIM:613174
Myoclonic Epilepsy Of Lafora
Gait disturbance, Myoclonus, Apraxia OMIM:254780
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Abnormal repetitive mannerisms OMIM:617751
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy OMIM:212138
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Involuntary movements, Clonus, Opisthotonus, Myoclonus OMIM:620352
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Unsteady gait, Abnormal repetitive mannerisms, Self-mutilation, Stereotypica... OMIM:212066
9Q33.3Q34.11 Microdeletion Syndrome
Inability to walk, Spastic tetraparesis, Cerebellar vermis atrophy, Cryptorchidism ORPHA:495818
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Congenital Disorder Of Glycosylation, Type Iie
Cerebellar atrophy, Failure to thrive, Cerebral atrophy OMIM:608779
White-Sutton Syndrome
Waddling gait, Hyperactivity, Aggressive behavior, Self-injurious behavior, Tics, Abnormal repeti... OMIM:616364
Staphylococcal Necrotizing Pneumonia
Lethargy ORPHA:36238
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cryptorchidism, Abnormal repetitive mannerisms ORPHA:500159
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Den Hoed-De Boer-Voisin Syndrome
Ataxia, Inability to walk, Agitation, Dysphagia, Abnormal repetitive mannerisms, Stereotypical ha... OMIM:619229
Renal Hypoplasia, Bilateral
Lethargy, Cryptorchidism ORPHA:97362
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... ORPHA:512
Gitelman Syndrome
Failure to thrive, Ataxia, Paresthesia, Paralysis OMIM:263800
Megalocornea-Intellectual Disability Syndrome
Abnormal repetitive mannerisms, Ataxia ORPHA:2479
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Developmental And Epileptic Encephalopathy 2
Inability to walk, Abnormal repetitive mannerisms OMIM:300672
Full Schwannomatosis
Hypoesthesia, Paresthesia, Fasciculations ORPHA:93921
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy OMIM:609015
Sandhoff Disease, Infantile Form
Exaggerated startle response, Myoclonus, Spasticity ORPHA:309155
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1727
Arthrogryposis Multiplex Congenita 5
Dystonia, Hypertonia, Akinesia, Hand tremor OMIM:618947
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus ORPHA:168593
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Intention tremor OMIM:618381
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling OMIM:618250
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:457351
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, C... OMIM:241080
Necrotizing Enterocolitis
Lethargy ORPHA:391673
Niemann-Pick Disease, Type C2
Abnormal repetitive mannerisms, Ataxia, Dysphagia OMIM:607625
Bilateral Perisylvian Polymicrogyria
Cerebellar dysplasia, Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor ... ORPHA:98889
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Repetitive compulsive behavior, Attention deficit hyperactivity disorder ORPHA:391372
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:424
Cirrhosis, Familial
Lethargy OMIM:215600
Vici Syndrome
Abnormal posturing, Cerebellar vermis hypoplasia OMIM:242840
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy OMIM:608836
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cryptorchidism, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620073
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormal brainstem morphology ORPHA:2720
Holocarboxylase Synthetase Deficiency
Lethargy OMIM:253270
Porphyria, Acute Intermittent
Respiratory paralysis, Paresthesia, Paralysis OMIM:176000
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Vocal cord paralysis, Obesity, Tip-toe gait, Gait disturbance ORPHA:98863
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Vocal cord paralysis, Obesity, Tip-toe gait, Gait disturbance ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Vocal cord paralysis, Obesity, Tip-toe gait, Gait disturbance ORPHA:98853
Serotonin Syndrome
Clonus, Tremor, Rigidity, Hypertonia, Myoclonus ORPHA:43116
Pediatric-Onset Graves Disease
Tremor, Hyperkinetic movements ORPHA:525731
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Aggressive behavior, Self-injurious behavior, Compulsive behaviors,... ORPHA:293987
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy ORPHA:159
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Involuntary movements, Choreoathetosis, Paresthesia, Oligomenorrh... ORPHA:79443
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:98784
Combined Oxidative Phosphorylation Deficiency 19
Mitochondrial swelling OMIM:615595
Skin Creases, Congenital Symmetric Circumferential, 1
Cerebellar vermis atrophy, Dandy-Walker malformation OMIM:156610
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Myoclonus, Dystonia OMIM:617669
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI, Cerebellar vermis hypoplasia ORPHA:2754
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Tremor, Ataxia, Intention tremor OMIM:614052
Spondyloenchondrodysplasia
Chorea, Spasticity ORPHA:1855
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Inability to walk, Abnormal repetitive mannerisms ORPHA:300570
Pitt-Hopkins Syndrome
Cryptorchidism, Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia OMIM:610954
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors ORPHA:401777
Kleefstra Syndrome 1
Cryptorchidism, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:610253
Congenital Sialidosis Type 2
Spasticity, Ataxia, Myoclonus, Dysmetria ORPHA:93400
Bainbridge-Ropers Syndrome
Inability to walk, Cryptorchidism, Self-injurious behavior, Recurrent hand flapping, Abnormal rep... OMIM:615485
Sialuria
Hyperkinetic movements ORPHA:3166
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Lethargy, Depression ORPHA:90674
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Occipital meningocele, Cerebellar vermis hypoplasia OMIM:277170
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ataxia, Myoclonus, Dystonia OMIM:619167
Methylmalonic Aciduria, Cblb Type
Lethargy OMIM:251110
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Periodic paralysis OMIM:188580
Catastrophic Antiphospholipid Syndrome
Chorea ORPHA:464343
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy OMIM:277380
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Dystonia, Hydrocephalus, Babinski sign, Hemiparesis, Tetraparesis, Limb dysto... OMIM:175780
Nmda Receptor Encephalitis
Involuntary movements, Oculogyric crisis, Rigidity, Chorea, Testicular teratoma, Opisthotonus, Ch... ORPHA:217253
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Neuroblastoma, Susceptibility To, 1
Ataxia, Myoclonus OMIM:256700
Whipple Disease
Ataxia, Abnormal pyramidal sign, Erectile dysfunction, Myoclonus ORPHA:3452
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Chorea, Gait ataxia, Hypertonia, Spasticity ORPHA:255210
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Failure to thrive, Corpus callosum atrophy OMIM:261515
Genetic Transient Congenital Hypothyroidism
Lethargy ORPHA:226316
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:26793
Late-Onset Isolated Acth Deficiency
Lethargy, Premature ovarian insufficiency ORPHA:199299
D-Glyceric Aciduria
Spastic tetraplegia, Spasticity, Myoclonus, Opisthotonus OMIM:220120
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:71212
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Cachexia, Paralysis, Hydrocephalus, Spastic paraplegia, Limb ataxia, Azoospermi... ORPHA:2072
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Encephalitis Lethargica
Lethargy ORPHA:83600
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis OMIM:619479
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Ataxia ORPHA:79282
Severe X-Linked Intellectual Disability, Gustavson Type
Spasticity, Hypertonia, Myoclonus ORPHA:3078
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Cryptorchidism, Babinski sign, Myoclonus, Spasticity ORPHA:364028
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Myoclonus OMIM:614462
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy ORPHA:79284
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy OMIM:210210
Ebola Hemorrhagic Fever
Lethargy ORPHA:319218
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Aggressive behavior, Cryptorchidism, Unsteady gait, Polyphagia, Dys... ORPHA:96121
Familial Hypoaldosteronism
Lethargy ORPHA:427
Glioblastoma
Paralysis ORPHA:360
Opsoclonus-Myoclonus Syndrome
Rigidity, Limb myoclonus, Ataxia, Myoclonus ORPHA:1183
Hallermann-Streiff Syndrome
Choreoathetosis, Cryptorchidism OMIM:234100
Woodhouse-Sakati Syndrome
Streak ovary, Premature ovarian insufficiency, Choreoathetosis, Abnormal spermatogenesis, Hypogon... ORPHA:3464
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Facial-lingual fasciculations, Spastic tetraplegia, Myoclonus, Spas... OMIM:617281
Scorpion Envenomation
Hemifacial spasm, Ataxia, Tremor, Hyperkinetic movements, Paresthesia, Myoclonus, Priapism ORPHA:466677
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Methylmalonic Aciduria, Cbla Type
Lethargy OMIM:251100
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... ORPHA:79102
Immunodeficiency 23
Somatic sensory dysfunction, Ataxia, Myoclonus, Cortical myoclonus OMIM:615816
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Jerky head movements ORPHA:369837
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology ORPHA:88619
Lafora Disease
Ataxia, Inability to walk, Gait disturbance, Myoclonus, Erratic myoclonus, Spasticity ORPHA:501
Alg9-Cdg
Cerebellar atrophy, Lower limb spasticity, Torticollis, Cerebral atrophy, Hypoplasia of the ovary ORPHA:79328
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Spasticity, Myoclonus OMIM:612949
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy OMIM:615751
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Spasticity, Myoclonus OMIM:246450
Rauch-Steindl Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy ORPHA:90673
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Chorea ORPHA:268
Cholera
Lethargy ORPHA:173
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Lethargy OMIM:620233
Trichinellosis
Lethargy, Apathy ORPHA:863
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms ORPHA:261144
Neuroleptic Malignant Syndrome
Tremor, Chorea, Extrapyramidal muscular rigidity ORPHA:94093
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Anencephaly, Chiari malformatio... OMIM:249000
Microcephaly-Capillary Malformation Syndrome
Myoclonus, Spastic tetraparesis OMIM:614261
Hyperphosphatasia-Intellectual Disability Syndrome
Oculomotor apraxia, Ataxia, Myoclonus, Gait disturbance ORPHA:247262
Trisomy 10P
Poor motor coordination, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with ... ORPHA:171929
Combined Oxidative Phosphorylation Deficiency 57
Myoclonus, Dystonia OMIM:620167
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Cerebral atrophy, Hemiparesis, Subcortical cerebral atrophy, Hy... ORPHA:2396
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1001
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Kleefstra Syndrome
Aggressive behavior, Cryptorchidism, Self-injurious behavior, Abnormal repetitive mannerisms, Sel... ORPHA:261494
Posterior Urethral Valve
Lethargy ORPHA:93110
Cowden Syndrome 1
Dysplastic gangliocytoma of the cerebellum, Intention tremor OMIM:158350
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy OMIM:277400
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Positive Romberg sign, Ataxia, Intention tremor ORPHA:221139
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Abdominal obesity, Hypoplasia of the ovary, Decreased testicular size, Cerebellar ... OMIM:619321
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Oculomotor apraxia, Abnormal myelination ORPHA:67045
Wilson Disease
Face of the giant panda sign, Dysphagia OMIM:277900
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax... OMIM:614756
Semilobar Holoprosencephaly
Inability to walk, Lethargy, Apathy, Depression ORPHA:220386
Alobar Holoprosencephaly
Inability to walk, Lethargy, Apathy, Depression ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Inability to walk, Lethargy, Apathy, Depression ORPHA:93926
Lobar Holoprosencephaly
Inability to walk, Lethargy, Apathy, Depression ORPHA:93924
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Cerebellar atrophy, Dandy-Walker malformation, Cerebellar dysplasia ORPHA:487796
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Cerebellar atrophy OMIM:210730
Tsh-Secreting Pituitary Adenoma
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the m... ORPHA:91347
Holoprosencephaly
Chorea, Spasticity ORPHA:2162
Cockayne Syndrome B
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Cryptorchidism, D... OMIM:133540
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Abnormal repetitive mannerisms, Inappropriate laughter OMIM:615802
Glycine Encephalopathy
Lethargy ORPHA:407
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Hereditary Fructose Intolerance
Lethargy ORPHA:469
Orofaciodigital Syndrome Type 3
Oculomotor apraxia, Spasticity, Myoclonus ORPHA:2752
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Cryptorchidism, Hydrocephalus, Chiari type I malfor... OMIM:270400
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive b... ORPHA:177907
Mogs-Cdg
Hydrocele testis, Absent brainstem auditory responses, Sensorineural hearing impairment, Optic at... ORPHA:79330
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis ORPHA:83601
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Cryptorchidism, Attention deficit hyperactivity disorder, Abnormal repet... OMIM:619005
Complete Atrioventricular Septal Defect
Lethargy ORPHA:1329
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Menkes Disease
Chorea, Hypertonia, Spasticity ORPHA:565
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Inhalational Botulism
Paralysis ORPHA:254504
Orofaciodigital Syndrome Iii
Myoclonus OMIM:258850
Exercise-Induced Malignant Hyperthermia
Lethargy, Ataxia ORPHA:466650
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Testicular neoplasm, Precocious puberty, Testicular ... ORPHA:1359
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Head-banging, Self-injurious behavior, Attention deficit hyperactivity disorder, Frequent temper ... OMIM:619575
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Monosomy 22Q13.3
Impaired pain sensation, Obesity, Cerebellar cortical atrophy ORPHA:48652
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Abnorm... ORPHA:513456
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Cryptorchidism, Abnormal repetitive mannerisms, Gait disturbance, Attention deficit hyperactivity... ORPHA:464311
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Holoprosencephaly, ... OMIM:615948
Glycerol Kinase Deficiency
Lethargy, Cryptorchidism OMIM:307030
9P13 Microdeletion Syndrome
Myoclonus, Hand tremor ORPHA:324313
Melas
Abnormal central motor function, Hypogonadotropic hypogonadism, Ataxia, Hemiparesis, Gait disturb... ORPHA:550
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Cryptorchidism, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia,... OMIM:620330
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Abnormal repetitive mannerisms, Difficulty walking OMIM:618653
Cockayne Syndrome Type 3
Unsteady gait, Brain atrophy, Difficulty walking, Intention tremor, Dense calcifications in the c... ORPHA:90324
Marbach-Rustad Progeroid Syndrome
Intention tremor OMIM:619322
Cowden Syndrome 5
Intention tremor OMIM:615108
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Abnormal repetitive mannerisms ORPHA:508533
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Cryptorchidism, Abnormal repetitive mannerisms, Gait disturbance ORPHA:464306
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis ORPHA:37553
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... OMIM:137920
Fumarase Deficiency
Mitochondrial swelling OMIM:606812
Fg Syndrome Type 1
Broad-based gait, Abnormal social behavior ORPHA:93932
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Lethargy OMIM:617156
Mend Syndrome
Cryptorchidism, Abnormal auditory evoked potentials, Low-set ears, Limb hypertonia ORPHA:401973
Cowden Syndrome 6
Intention tremor OMIM:615109
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... ORPHA:99889
Heterotaxy, Visceral, 5, Autosomal
Cerebellar atrophy, Cerebellar hypoplasia, Cerebral atrophy OMIM:270100
Pearson Marrow-Pancreas Syndrome
Lethargy OMIM:557000
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Cryptorchidism, Self-injurious behavior, Compulsive behaviors, Frequent temper tan... OMIM:619512
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Hypogonadotropic hypogonadism ORPHA:226307
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Myoclonic spasms ORPHA:73224
Histidinemia
Hyperactivity ORPHA:2157
48,Xxxy Syndrome
Tremor, Abnormal social behavior ORPHA:96263
Histiocytoid Cardiomyopathy
Lethargy ORPHA:137675
Multiple Endocrine Neoplasia Type 1
Depression, Impotence, Lethargy, Decreased male libido, Amenorrhea ORPHA:652
X-Linked Intellectual Disability, Snyder Type
Involuntary movements, Inability to walk, Cryptorchidism, Unsteady gait, Abnormality of the Leydi... ORPHA:3063
Nephronophthisis-Like Nephropathy 1
Kinetic tremor OMIM:613159
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Myoclonus ORPHA:314655
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Lower limb spasticity, Intention tremor OMIM:620029
Wiedemann-Rautenstrauch Syndrome
Ataxia, Action tremor, Tremor, Hydrocephalus, Chiari type I malformation, Hypertonia, Cerebellar ... ORPHA:3455
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Gait disturbance, Intention tremor OMIM:213980
Hydranencephaly
Lethargy ORPHA:2177
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Spastic tetraplegia, Clonus, Myoclonus OMIM:619055
Orofaciodigital Syndrome Type 14
Molar tooth sign on MRI, Dilated fourth ventricle, Dandy-Walker malformation ORPHA:434179
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Speech apraxia, Ataxia, Chiari type I malformation, Pseudobulbar paralysis, Cerebellar hypoplasia... ORPHA:466791
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Cryptorchidism, Abnormal repetitive mannerisms OMIM:301040
Marburg Hemorrhagic Fever
Orchitis, Lethargy, Dysesthesia ORPHA:99826
Ciliary Dyskinesia, Primary, 1
Male infertility, Conductive hearing impairment OMIM:244400
Wiedemann-Steiner Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Dysphagia, Aggressive behavior ORPHA:319182
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Cryptorchidism, Bruxism, Compulsive behaviors, Dys... OMIM:615873
Pgm3-Cdg
Ataxia, Myoclonus, Cortical myoclonus ORPHA:443811
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Myoclonus ORPHA:1352
Rift Valley Fever
Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis ORPHA:319251
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Fabry Disease
Paresthesia, Fasciculations OMIM:301500
Intellectual Developmental Disorder, Autosomal Dominant 42
Limb dystonia, Cerebral palsy, Inability to walk, Myoclonus, Dystonia, Hemiplegia, Limb hypertonia OMIM:616973
Pineoblastoma
Lethargy ORPHA:251909
Ethylene Glycol Poisoning
Slurred speech, Ataxia, Myoclonus ORPHA:31826
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy OMIM:218700
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Myoclonus ORPHA:251004
Farber Disease
Paraparesis, Spasticity, Myoclonus ORPHA:333
Primary Sjögren Syndrome
Chorea, Somatic sensory dysfunction ORPHA:289390
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Dihydropyrimidine Dehydrogenase Deficiency
Hypertonia, Inability to walk, Abnormal social behavior ORPHA:1675
Diamond-Blackfan Anemia
Lethargy ORPHA:124
Lysinuric Protein Intolerance
Lethargy ORPHA:470
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Kinsship Syndrome
Abnormal repetitive mannerisms, Bruxism OMIM:619297
Systemic Lupus Erythematosus
Chorea ORPHA:536
Gitelman Syndrome
Failure to thrive, Paresthesia, Paralysis ORPHA:358
Arboleda-Tham Syndrome
Bilateral cryptorchidism, Abnormal repetitive mannerisms, Gait imbalance, Dysphagia OMIM:616268
1P36 Deletion Syndrome
Cryptorchidism, Polyphagia, Self-injurious behavior, Hypogonadism, Gait disturbance, Dysphagia, A... ORPHA:1606
Brucellosis
Chorea ORPHA:1304
Distal Renal Tubular Acidosis
Failure to thrive, Paralysis ORPHA:18
Cancer-Associated Retinopathy
Diffuse cerebellar atrophy ORPHA:71505
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Hearing impairment OMIM:227650
Fructose Intolerance, Hereditary
Lethargy OMIM:229600
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Abnormal repetitive mannerisms, Aggressive behavior OMIM:301066
Mucopolysaccharidosis Type 2
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal temper tantrums, Abnormal repetitive ma... ORPHA:580
Listeriosis
Somatic sensory dysfunction, Ataxia, Tremor, Hemiparesis, Myoclonus ORPHA:533
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Hypertonia, Chiari malformation, Truncal ataxia, Dandy-Walker malformation, Intent... OMIM:264090
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353281
Oculocerebrorenal Syndrome Of Lowe
Cryptorchidism, Self-injurious behavior, Azoospermia, Compulsive behaviors, Attention deficit hyp... ORPHA:534
Primrose Syndrome
Restlessness, Hypergonadotropic hypogonadism, Ataxia, Aggressive behavior, Bilateral cryptorchidi... OMIM:259050
Pontocerebellar Hypoplasia Type 7
Involuntary movements, Hypertonia, Myoclonus, Fasciculations, Spasticity ORPHA:284339
Paroxysmal Nocturnal Hemoglobinuria
Lethargy, Impotence ORPHA:447
Ogden Syndrome
Cryptorchidism, Hydrocele testis, Dysphagia, Abnormal repetitive mannerisms, Decreased testicular... OMIM:300855
Neutral Lipid Storage Myopathy
Fasciculations, Difficulty walking ORPHA:98908
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Cryptorchidism, Hyperactivity, Abnormal repetitive mannerisms OMIM:309590
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms ORPHA:508498
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the male genitalia, Abnormality of the female genitalia ORPHA:228123
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Self-injurious b... ORPHA:805
Tyrosinemia, Type I
Failure to thrive, Periodic paralysis OMIM:276700
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353277
Eisenmenger Syndrome
Lethargy ORPHA:97214
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Low-set, posteriorly rotated ears, Streak ovary, Unilateral cryptorchidism, Bil... ORPHA:1772
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Myoclonus, Tetraplegia, Dystonia OMIM:618278
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Abnormal social behavior, Inappropriate laughter, Overfriendliness ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Abnormal social behavior, Inappropriate laughter, Overfriendliness ORPHA:363958
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Involuntary movements, Inability to walk, Cryptor... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Cryptorchidism, Hydrocele testis, Chordee, Attention deficit hyperactivity disorder, Dysphagia, A... OMIM:619522
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Impaired pain sensation, Cryptorchidism, Inability to walk, Dysphagia, ... ORPHA:2152
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Abnormal repetitive mannerisms OMIM:301044
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Impaired pain sensation, Cryptorchidism, Inability to walk, Dysphagia, Hydrocel... ORPHA:261537
Norrie Disease
Cryptorchidism, Self-injurious behavior, Erectile dysfunction, Attention deficit hyperactivity di... ORPHA:649
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:612474
Williams Syndrome
Ataxia, Involuntary movements, Tremor, Dysmetria, Gait disturbance, Gait imbalance, Abnormality o... ORPHA:904
Coffin-Siris Syndrome 12
Cryptorchidism, Abnormal repetitive mannerisms OMIM:619325
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Degcags Syndrome
Cryptorchidism, Chordee, Vocal cord paralysis, Abnormal myelination OMIM:619488
Wolf-Hirschhorn Syndrome
Cryptorchidism, Abnormal repetitive mannerisms OMIM:194190
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Impaired pain sensation, Cryptorchidism, Inability to walk, Dysphagia, Hydrocel... ORPHA:261552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Spasticity, Myoclonus OMIM:253280
Crimean-Congo Hemorrhagic Fever
Orchitis, Fasciculations ORPHA:99827
Doors Syndrome
Myoclonus ORPHA:79500

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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