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 |
|
Nystagmus, Abnormality of eye movement, Episodic ataxia |
ORPHA:1179 |
Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
Nystagmus 3, Congenital, Autosomal Dominant |
|
Horizontal jerk nystagmus |
OMIM:608345 |
Nystagmus, Congenital, Autosomal Recessive |
|
Congenital nystagmus, Nystagmus |
OMIM:257400 |
Neuropathy, Hereditary Sensory, Atypical |
|
Babinski sign, Ataxia, Sensory ataxia |
OMIM:256860 |
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia |
|
Clumsiness, Paroxysmal tonic upgaze, Parkinsonism with favorable response to dopaminergic medicat... |
OMIM:168885 |
Spinocerebellar Ataxia Type 5 |
|
Slurred speech, Cerebellar atrophy, Incoordination, Gait disturbance |
ORPHA:98766 |
Charcot-Marie-Tooth Disease, Axonal, Type 2V |
|
Distal sensory impairment, Paresthesia, Sensory ataxia |
OMIM:616491 |
Ataxia, Sensory, 1, Autosomal Dominant |
|
Sensory ataxia, Babinski sign, Positive Romberg sign, Gait instability, worse in the dark |
OMIM:608984 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia, Cerebral atrophy |
OMIM:615268 |
Deafness, Autosomal Recessive 103 |
|
Sensorineural hearing impairment, Vestibular dysfunction, Vestibular areflexia |
OMIM:616042 |
Episodic Ataxia Type 5 |
|
Ataxia, Gaze-evoked nystagmus, Truncal ataxia |
ORPHA:211067 |
Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia, Cerebellar atrophy |
OMIM:616410 |
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 |
|
Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy, Broad-based gait |
OMIM:605388 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:617769 |
Episodic Ataxia, Type 5 |
|
Gaze-evoked nystagmus, Episodic ataxia |
OMIM:613855 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
ORPHA:211017 |
Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... |
ORPHA:98769 |
Usher Syndrome, Type Ie |
|
Congenital sensorineural hearing impairment, Vestibular areflexia |
OMIM:602097 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
Posterior Column Ataxia |
|
Impaired proprioception, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
Episodic Kinesigenic Dyskinesia 2 |
|
Involuntary movements, Paroxysmal dyskinesia, Chorea |
OMIM:611031 |
Spastic Paraplegia 24, Autosomal Recessive |
|
Spastic paraplegia, Clonus, Tip-toe gait, Spasticity |
OMIM:607584 |
X-Linked Spastic Paraplegia Type 34 |
|
Babinski sign, Shuffling gait, Lower limb spasticity, Impaired vibration sensation in the lower l... |
ORPHA:171607 |
Charcot-Marie-Tooth Disease, Axonal, Type 2T |
|
Distal sensory impairment, Unsteady gait |
OMIM:617017 |
Early-Onset Generalized Limb-Onset Dystonia |
|
Gait disturbance, Hypertonia |
ORPHA:256 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Falls, Frequent falls |
OMIM:614937 |
Spinocerebellar Ataxia 30 |
|
Ataxia, Cerebellar atrophy |
OMIM:613371 |
Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Cerebellar ... |
ORPHA:94122 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617133 |
Duane Retraction Syndrome 3 With Or Without Deafness |
|
Impaired ocular abduction, Impaired ocular adduction |
OMIM:617041 |
Vestibulocochlear Dysfunction, Progressive |
|
Progressive hearing impairment, Tinnitus, Vestibular areflexia |
OMIM:193005 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Ataxia, Inability to walk, Cerebellar atrophy |
OMIM:619333 |
Tapetoretinal Degeneration With Ataxia |
|
Ataxia |
OMIM:272600 |
Vertigo, Benign Recurrent |
|
Gait imbalance |
OMIM:193007 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:615957 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Progressive spasticity, Abnormal pons morphology, Babinski sign, Impaired vibration sensation in ... |
ORPHA:171622 |
Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Spastic ataxia, Fa... |
OMIM:611302 |
Spastic Paraplegia 61, Autosomal Recessive |
|
Scissor gait, Inability to walk, Spasticity, Spastic paraplegia, Difficulty walking |
OMIM:615685 |
Spinocerebellar Ataxia 31 |
|
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:117210 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia |
ORPHA:217012 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Atonic-Astatic Syndrome Of Foerster |
|
Ataxia, Inability to walk, Abasia |
OMIM:209100 |
Spastic Paraplegia 32, Autosomal Recessive |
|
Babinski sign, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Ankle clonus, Cerebral at... |
OMIM:611252 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction |
ORPHA:423296 |
Spastic Ataxia With Congenital Miosis |
|
Ataxia, Nystagmus, Spastic ataxia, Hemiplegia/hemiparesis |
ORPHA:1182 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Progressive cerebellar ataxia, Impaired temperature sensation |
OMIM:212890 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Cerebral atrophy, Unsteady gait, Titubation |
OMIM:619405 |
Spinocerebellar Ataxia Type 4 |
|
Impaired proprioception, Gait disturbance, Ataxia, Impaired vibratory sensation, Impaired tactile... |
ORPHA:98765 |
Autosomal Spastic Paraplegia Type 30 |
|
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Dis... |
ORPHA:101010 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Nystagmus, Hereditary Vertical |
|
Abnormal vestibulo-ocular reflex |
OMIM:164150 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Spinocerebellar Ataxia 29 |
|
Dysmetria, Impaired tandem gait, Intention tremor, Cerebellar vermis hypoplasia, Cerebellar vermi... |
OMIM:117360 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea |
OMIM:616939 |
Non-Syndromic Genetic Deafness |
|
Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch... |
ORPHA:87884 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Cerebellar vermis atrophy, Brain atrophy, Truncal ataxia, Limb ataxia, Difficulty walking |
ORPHA:363432 |
Mental Retardation, Autosomal Recessive 1 |
|
Babinski sign, Nystagmus, Strabismus |
OMIM:249500 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Dystonia With Cerebellar Atrophy |
|
Dystonia, Cerebellar atrophy, Torticollis, Craniofacial dystonia, Progressive cerebellar ataxia |
OMIM:611694 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Dystonia, Myoclonus, Tremor |
OMIM:611092 |
Spasmus Nutans |
|
Torticollis, Nystagmus |
ORPHA:279882 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait |
OMIM:617917 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Babinski sign, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy... |
OMIM:616192 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, Ataxia, Cerebral a... |
OMIM:600143 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Spinocerebellar Ataxia 43 |
|
Rigidity, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Ataxia, Limb ataxia, Gait... |
OMIM:617018 |
Spinocerebellar Ataxia 40 |
|
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... |
OMIM:616053 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus |
OMIM:616921 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Steppage gait, Hand tremor, Somatic sensory dysfunction |
OMIM:300905 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Nystagmus, Limb ataxia, Gait ataxia |
ORPHA:284282 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus, Cerebellar atrophy |
OMIM:616187 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention trem... |
ORPHA:284332 |
Spinocerebellar Ataxia Type 23 |
|
Impaired proprioception, Babinski sign, Dysmetria, Slow saccadic eye movements, Progressive cereb... |
ORPHA:101108 |
Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Cerebellar atrophy, Frequent falls, Torticollis, Dysmetria, Chorea, Spasti... |
ORPHA:397946 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Gait disturbance, Parkinsonism, Cerebellar atrophy, Tremor by anatomical site, B... |
ORPHA:98762 |
X-Linked Complicated Spastic Paraplegia Type 1 |
|
Spastic paraplegia, Cognitive impairment, Ataxia, Upper motor neuron dysfunction, Mental deterior... |
ORPHA:306617 |
Spinocerebellar Ataxia Type 35 |
|
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention trem... |
ORPHA:276193 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... |
OMIM:616948 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... |
ORPHA:314978 |
Abducens Palsy |
|
Strabismus |
OMIM:100200 |
Spinocerebellar Ataxia Type 40 |
|
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... |
ORPHA:423275 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Dysmetria, Head tremor, Titubation, Gait ataxia, Somatic sensory dysfunction |
ORPHA:98771 |
Spinocerebellar Ataxia 35 |
|
Babinski sign, Cerebellar atrophy, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordinati... |
OMIM:613908 |
Gordon Holmes Syndrome |
|
Infertility, Cerebellar atrophy, Oligomenorrhea, Hypogonadotropic hypogonadism, Ataxia, Cerebral ... |
OMIM:212840 |
Striatal Degeneration, Autosomal Dominant 2 |
|
Parkinsonism, Chorea |
OMIM:616922 |
Spastic Ataxia 7, Autosomal Dominant |
|
Babinski sign, Abnormal conjugate eye movement, Nystagmus, Spastic ataxia, Dysdiadochokinesis |
OMIM:108650 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Cerebellar Ataxia And Albinism |
|
Head tremor, Ataxia, Olivopontocerebellar atrophy |
OMIM:258300 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Limb ataxia, Gait ataxia |
OMIM:617770 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Cerebellar atrophy, Spasticity |
OMIM:616494 |
Spermatogenic Failure 35 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Cerebellar atrophy, Action tremor, Intention tremor |
OMIM:302500 |
Episodic Ataxia, Type 8 |
|
Nystagmus, Intention tremor, Ataxia, Slurred speech, Episodic ataxia |
OMIM:616055 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Ataxia, Hypogonadotropic hypogonadism |
ORPHA:1180 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... |
OMIM:613728 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Ataxia |
ORPHA:1397 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
Autosomal Recessive Spastic Paraplegia Type 24 |
|
Clonus, Scissor gait, Tip-toe gait, Spasticity, Spastic paraplegia |
ORPHA:101004 |
Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Rigidity, Myoclonus, Intention tremor, Cerebellar vermis hypoplasia, Ataxia |
OMIM:618876 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Chorea |
OMIM:601372 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Progressive cerebellar ataxia, Difficulty walking, Abnormal pyramidal sign |
ORPHA:85292 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Dystonia, Cerebellar atrophy, Head titubation, Truncal ataxia, Spasticity, Abnormal pyramidal sig... |
OMIM:617560 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Dystonia 23 |
|
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... |
OMIM:614860 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor, Normal pressure hydrocephalus |
OMIM:611808 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Cerebellar atrophy, Tremor, Hypogonadism, Truncal ataxia, Cerebellar hypoplasia, S... |
OMIM:615768 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Unsteady gait, Ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:615705 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Babinski sign, Cerebellar atrophy, Ataxia, Spasticity, Limb ataxia, Gait ataxia |
OMIM:614322 |
Tremor, Hereditary Essential, 5 |
|
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
Mental Retardation, Autosomal Recessive 63 |
|
Inability to walk, Spasticity |
OMIM:618095 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Cerebellar atrophy, Neurodegeneration, Tremor, Ataxia, Apraxia, Spasticity, Premature o... |
OMIM:615889 |
Spinocerebellar Ataxia 23 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Neuronal loss in central nervous system, Tremor, Im... |
OMIM:610245 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Nystagmus 4, Congenital, Autosomal Dominant |
|
Impaired smooth pursuit, Strabismus, Upbeat nystagmus, Gaze-evoked nystagmus, Absent smooth pursu... |
OMIM:193003 |
Neuhauser-Eichner-Opitz Syndrome |
|
Ataxia, Hypertonia, Spasticity, Rigidity |
ORPHA:2672 |
Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... |
ORPHA:363710 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions |
OMIM:618830 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, La... |
ORPHA:101110 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... |
OMIM:615362 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Clumsiness, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:608029 |
Episodic Ataxia, Type 7 |
|
Episodic ataxia |
OMIM:611907 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:168100 |
Chorea, Benign Hereditary |
|
Chorea |
OMIM:118700 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia |
ORPHA:401840 |
Neurodegeneration With Brain Iron Accumulation |
|
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor function, Spa... |
ORPHA:385 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Truncal titubation, Cerebellar vermis hypoplasia, Poor fine motor coordination, Abnormal pyramida... |
OMIM:618800 |
Progressive Myoclonic Epilepsy Type 1 |
|
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia |
ORPHA:308 |
Dystonia 15, Myoclonic |
|
Dystonia, Myoclonus, Writer's cramp |
OMIM:607488 |
Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal choreoathetosis |
OMIM:128200 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Gait disturbance, Babinski sign, Spastic paraplegia, Ataxia, Mental deterioration, Abnormal cereb... |
OMIM:618418 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
Dystonia 31 |
|
Arm dystonia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized dystonia, Pa... |
OMIM:619565 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Ataxia |
OMIM:212850 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Dystonia, Involuntary movements, Jerky head movements, Torticollis, Focal dyston... |
ORPHA:98807 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor |
ORPHA:2589 |
Spinocerebellar Ataxia 18 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Abnormal visual fixation, Myoclonus, Fasciculations, Abnormality of eye ... |
ORPHA:95434 |
Spinocerebellar Ataxia 4 |
|
Babinski sign, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebel... |
OMIM:600223 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Broad-based gait, Intention tremor |
OMIM:601238 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Abnormality of extrapyramidal motor function, Choreoathetosis |
OMIM:301020 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Hemiparesis, Tremor, Ataxia, Hemiplegia |
OMIM:141500 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Dysmetria, Cognitive impairment, Ataxia, Truncal ataxia, Cerebellar hypoplasia |
OMIM:617584 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
OMIM:604326 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Cerebellar atrophy, Ataxia, Hypertonia, Spasticity, Cerebral atrophy |
OMIM:613925 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Ataxia, Cerebellar atrophy |
OMIM:614706 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Ataxia |
OMIM:618384 |
Spinocerebellar Ataxia Type 26 |
|
Babinski sign, Cerebellar atrophy, Progressive gait ataxia, Progressive cerebellar ataxia, Trunca... |
ORPHA:101112 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Spasticity, Cerebral atrophy |
OMIM:617916 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Involuntary movements, Rigidity, Choreoathetosis, Torticollis, Chorea, Paroxysmal dyskinesia, Hyp... |
ORPHA:98810 |
Ataxia-Oculomotor Apraxia 4 |
|
Dystonia, Cerebellar atrophy, Tetraplegia, Ataxia, Oculomotor apraxia |
OMIM:616267 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle ... |
OMIM:610357 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Dystonia, Gait disturbance, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... |
OMIM:614561 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy |
OMIM:617643 |
Spastic Paraplegia 79, Autosomal Recessive |
|
Babinski sign, Cerebellar atrophy, Head titubation, Dysmetria, Neurodegeneration, Fasciculations,... |
OMIM:615491 |
Spastic Ataxia 9, Autosomal Recessive |
|
Babinski sign, Frequent falls, Ataxia, Cerebellar vermis atrophy, Spasticity, Abnormal pyramidal ... |
OMIM:618438 |
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Spastic tetraparesis, Cerebellar atrophy, Brain atrophy |
OMIM:618741 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Stereotypy, Tremor, Ataxia, Cer... |
OMIM:617862 |
Dentatorubral-Pallidoluysian Atrophy |
|
Choreoathetosis, Chorea, Myoclonus, Ataxia, Abnormal pyramidal sign |
OMIM:125370 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia,... |
OMIM:607346 |
Choreoathetosis, Familial Inverted |
|
Progressive choreoathetosis, Abnormal pyramidal sign, Rigidity |
OMIM:118750 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired proprioception, Dystonia, Babinski sign, Jerky head movements, Spastic gait, Spastic dys... |
ORPHA:251282 |
Developmental And Epileptic Encephalopathy 37 |
|
Gait disturbance, Cerebellar atrophy, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movement... |
OMIM:616981 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Positive Romberg sign, Vestibular areflexia, Gaze-evoked nystagmus, Ataxia, Impaired horizontal s... |
OMIM:614575 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dystonia, Cerebellar atrophy, Tongue fasciculations, Failure to thrive, Ataxia, Inability to walk... |
OMIM:618276 |
Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Hypertonia, Myoclonus, Progressive extrapyramidal movement disorder |
OMIM:612736 |
Dystonia 27 |
|
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor |
OMIM:616411 |
Spinocerebellar Ataxia Type 43 |
|
Cogwheel rigidity, Distal sensory impairment, Progressive cerebellar ataxia, Cerebellar vermis at... |
ORPHA:497764 |
Spinocerebellar Ataxia 6 |
|
Progressive cerebellar ataxia, Abnormal vestibulo-ocular reflex, Impaired smooth pursuit, Gaze-ev... |
OMIM:183086 |
Leukodystrophy, Hypomyelinating, 5 |
|
Babinski sign, Truncal titubation, Intention tremor, Loss of ability to walk, Inability to walk, ... |
OMIM:610532 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Clumsiness, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Cerebral atrophy |
OMIM:610003 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Childhood-Onset Benign Chorea With Striatal Involvement |
|
Parkinsonism with favorable response to dopaminergic medication, Chorea |
ORPHA:494541 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... |
ORPHA:464440 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Cerebellar atrophy, Truncal ataxia, Cerebral atrophy |
OMIM:611726 |
Isolated Cerebellar Agenesis |
|
Ataxia, Hypertonia, Abnormality of eye movement |
ORPHA:1398 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:609306 |
Dystonia 6, Torsion |
|
Lingual dystonia, Writer's cramp, Torticollis, Oromandibular dystonia, Myoclonus, Laryngeal dysto... |
OMIM:602629 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Unsteady gait, Truncal ataxia, Tremor |
OMIM:616127 |
Spinocerebellar Ataxia 28 |
|
Dystonia, Babinski sign, Cerebellar atrophy, Hypertonia, Spasticity, Parkinsonism, Limb ataxia, G... |
OMIM:610246 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Gait disturbance, Cerebellar atrophy, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxia |
ORPHA:284271 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Frequent falls, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Ataxia |
OMIM:615217 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617787 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Athetosis, Dystonia, Dystonic gait, Abnormality of extrapyramidal motor function, Spastic tetrapa... |
ORPHA:280219 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Frequent falls |
ORPHA:494526 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Torticollis, Paroxysmal choreoathetosis |
OMIM:118800 |
Intellectual Developmental Disorder, Autosomal Recessive 53 |
|
Ataxia, Cerebellar hypoplasia, Cerebral atrophy |
OMIM:616917 |
Behr Syndrome |
|
Progressive spasticity, Babinski sign, Gait disturbance, Cerebellar atrophy, Dysmetria, Tremor, A... |
OMIM:210000 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency |
|
Saccadic smooth pursuit, Nystagmus, Limb ataxia, Gait ataxia |
ORPHA:404499 |
Developmental And Epileptic Encephalopathy 76 |
|
Cerebellar atrophy, Upper limb spasticity, Lower limb spasticity, Inability to walk, Cerebral atr... |
OMIM:618468 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus, Chaotic rapid conjugate ocular movements |
OMIM:263550 |
Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614173 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Distal sensory impairment, Oculomotor aprax... |
OMIM:617633 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Inability to walk, Cerebellar atrophy, Gait ataxia |
OMIM:617915 |
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration |
|
Ataxia |
OMIM:242520 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Gait disturbance, Babinski sign, Cerebellar atrophy, Rigidity, Falls, Bradykinesia, Impaired tand... |
OMIM:300423 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... |
ORPHA:284324 |
Spinocerebellar Ataxia 14 |
|
Impaired vibration sensation at ankles, Cerebellar atrophy, Dysmetria, Focal dystonia, Progressiv... |
OMIM:605361 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Babinski sign, Impaired vibration sensation at ankles, Abnormality of somatosensory evoked potent... |
ORPHA:101007 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Cerebellar vermis atrophy, Inability to walk, ... |
OMIM:619389 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Cerebellar atrophy, Ataxia |
OMIM:613402 |
Ataxia-Microcephaly-Cataract Syndrome |
|
Ataxia, Nystagmus |
OMIM:208870 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Dysmetria, Steppage gait, Distal sensory impairment, Ataxia, Tremor, Gait ataxia |
OMIM:618387 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... |
OMIM:609270 |
Spinocerebellar Ataxia Type 25 |
|
Babinski sign, Impaired distal tactile sensation, Impaired pain sensation, Diffuse cerebellar atr... |
ORPHA:101111 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Clumsiness, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Dysmetria, Myoclo... |
OMIM:256731 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Frequent falls, Torticollis, Spasticity, Cerebral atrophy, Gait ataxia |
OMIM:618369 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Poor fine motor ... |
ORPHA:512260 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Babinski sign, Dysmetria, Impaired vibratory sensation, Spasticity, Spastic paraplegia, Abnormal ... |
ORPHA:459056 |
Epilepsy, Familial Adult Myoclonic, 6 |
|
Myoclonic tremor |
OMIM:618074 |
Hemifacial Spasm, Familial |
|
Hemifacial spasm |
OMIM:141405 |
Myoclonus, Familial, 2 |
|
Limb myoclonus |
OMIM:618364 |
Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Distal sensory impairment, Ataxia |
OMIM:212710 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Cerebellar atrophy, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia |
OMIM:606658 |
Autosomal Spastic Paraplegia Type 72 |
|
Postural tremor, Impaired vibration sensation at ankles, Spastic gait, Rigidity |
ORPHA:401849 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Ataxia, Inability to walk, Spastic tetraplegia, Cerebellar hypoplasia |
OMIM:618174 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Dystonia, Babinski sign, Cerebellar atrophy, Knee clonus, Spastic gait, Lower limb spasticity, Im... |
OMIM:607565 |
Hypermanganesemia With Dystonia 2 |
|
Gait disturbance, Dystonia, Cerebellar atrophy, Babinski sign, Oromandibular dystonia, Bradykines... |
OMIM:617013 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Dysmetria, Ataxia, Spasticity, Limb ataxia, Gait ataxia |
OMIM:610743 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Progressive spasticity, Dystonia, Cerebellar atrophy, Head titubation, Ataxia, Cerebral atrophy, ... |
ORPHA:527497 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Dysdiadochokinesis, Spasticity, Gait ataxia |
OMIM:617691 |
Cerebellar hypoplasia with endosteal sclerosis |
|
Ataxia, Cerebellar hypoplasia |
OMIM:213002 |
Spinocerebellar Ataxia Type 13 |
|
Clumsiness, Cerebellar atrophy, Torticollis, Myoclonus, Bradykinesia, Impaired distal vibration s... |
ORPHA:98768 |
Spermatogenic Failure 3 |
|
Infertility |
OMIM:606766 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Oocyte Maturation Defect 4 |
|
Infertility |
OMIM:617743 |
Nescav Syndrome |
|
Babinski sign, Cerebellar atrophy, Cerebellar vermis atrophy, Inability to walk, Spasticity, Cere... |
OMIM:614255 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 1 |
|
Infertility |
OMIM:615774 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Oculomotor apraxia, Dysd... |
OMIM:616204 |
Spinocerebellar Ataxia 25 |
|
Babinski sign, Cerebellar atrophy, Impaired pain sensation, Ataxia, Abolished vibration sense |
OMIM:608703 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Neurodegeneration, Infantile-Onset, Biotin-Responsive |
|
Cerebellar atrophy, Cerebral palsy, Hypoplasia of the pons, Spasticity, Cerebral atrophy |
OMIM:618973 |
X-Linked Progressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Frequent falls, Dysmetria, Spastic dysarthria, Progressive gait ataxia... |
ORPHA:1175 |
Oculomotor-Abducens Synkinesis |
|
Oculomotor synkinesis, Duane anomaly |
OMIM:619215 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Spasticity, Gait ataxia |
OMIM:615386 |
Spinocerebellar Ataxia Type 17 |
|
Involuntary movements, Gait disturbance, Dystonia, Cerebellar atrophy, Parkinsonism, Rigidity, Wr... |
ORPHA:98759 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Babinski sign, Head titubation, Dysmetria, Intention tremor, Ataxia |
OMIM:618688 |
Spastic Ataxia 3, Autosomal Recessive |
|
Dystonia, Cerebellar atrophy, Dysmetria, Spastic ataxia, Spasticity, Gait ataxia, Cerebral cortic... |
OMIM:611390 |
Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Gait disturbance, Resting tremor, Bradykinesia |
OMIM:616710 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... |
OMIM:617225 |
Spastic Ataxia 4, Autosomal Recessive |
|
Babinski sign, Nystagmus, Spastic paraparesis, Spastic ataxia |
OMIM:613672 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Dementia, Myoclonus, Abnormality of extrapyramidal motor function, Ataxia, Parkinsonism, Abnormal... |
OMIM:162350 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Ataxia, Optic atrophy |
OMIM:136600 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:600116 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar cyst, Head titubation, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis... |
ORPHA:370022 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Dysmetria, Vestibular areflexia, Intention tremor, Sensorineural hearing impairment, Progressive ... |
ORPHA:504476 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Ataxia, Limb ataxia, Cerebellar atrophy, Truncal ataxia |
OMIM:614229 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Cerebellar atrophy |
OMIM:615596 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Gait disturbance, Babinski sign, Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Progress... |
OMIM:612020 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Neuronal loss in central nervous system, Bradykinesia, Gait... |
OMIM:143100 |
Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Dystonia, Babinski sign, Frequent falls, Dysmetria, Intention tremor, Oculomotor apra... |
ORPHA:453521 |
Strabismus, Susceptibility To |
|
Microtropia, Strabismus |
OMIM:185100 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Ataxia, Nystagmus, Strabismus |
ORPHA:2802 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebellar atrophy, Steppage gait, Distal sensory impairment, Ataxia, Cerebral atrophy |
OMIM:607250 |
Leukodystrophy, Hypomyelinating, 14 |
|
Dystonia, Cerebellar atrophy, Spasticity, Cerebral atrophy |
OMIM:617899 |
Cataract 11, Multiple Types |
|
Chorea, Hypertonia |
OMIM:610623 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dementia, Cognitive impairment, Myoclonus, Abnormality of extrapyramidal motor functi... |
ORPHA:79262 |
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Paralysis, Cerebellar atrophy, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Gai... |
OMIM:606183 |
Developmental And Epileptic Encephalopathy 40 |
|
Myoclonus, Spasticity, Choreoathetosis |
OMIM:617065 |
Developmental And Epileptic Encephalopathy 92 |
|
Dystonia, Ataxia, Inability to walk, Difficulty walking, Lethargy |
OMIM:617829 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Fasciculations |
OMIM:182980 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Involuntary movements, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Lower limb sp... |
ORPHA:98811 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Chorea, Ataxia, Bradykinesia, Lethargy |
OMIM:618683 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Cerebellar atrophy, Amenorrhea, Ataxia, Premature ovarian insufficiency, Difficulty walking, Cere... |
OMIM:619425 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism |
ORPHA:401901 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Babinski sign, Dystonia, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... |
ORPHA:521406 |
Dystonia 16 |
|
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... |
ORPHA:210571 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Slurred speech, Cerebellar atrophy, Gait ataxia |
OMIM:619323 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Ataxia, Dementia, Gait disturbance |
ORPHA:2274 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait a... |
OMIM:616719 |
Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxi... |
ORPHA:98763 |
Epilepsy, Familial Adult Myoclonic, 7 |
|
Myoclonic tremor |
OMIM:618075 |
Juvenile Huntington Disease |
|
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Progressive... |
ORPHA:248111 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Stereotypy |
OMIM:606053 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Progressive spastic paraparesis, Cerebellar atrophy, Spastic tetraparesis, Spastic ataxia |
ORPHA:496756 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:612016 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Oculomotor apraxia, A... |
ORPHA:208513 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus |
OMIM:208700 |
Encephalopathy, Recurrent, Of Childhood |
|
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... |
OMIM:130950 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Spinocerebellar Ataxia Type 11 |
|
Dystonia, Gait imbalance, Progressive cerebellar ataxia, Horizontal nystagmus, Jerky ocular pursu... |
ORPHA:98767 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Babinski sign, Ataxia, Spasticity |
OMIM:611105 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Dysmetria, Global brain atrophy, Tremor, Aplasia of the inferior half of the ... |
OMIM:610185 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Abnormal pons morphology, Babinski sign, Cerebellar atrophy, Dysmetria, Lower limb spasticity, Pa... |
ORPHA:98 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, Cerebellar h... |
OMIM:224050 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Dysmetria, Truncal titubation, Tremor, Hypertonia, Gait ataxia, Abnormal cere... |
OMIM:618056 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Ataxia, Abnormal head movements |
ORPHA:71518 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... |
OMIM:617145 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Neurodegeneration, Cerebellar atrophy, Ataxia, Cerebral atrophy |
OMIM:610951 |
Dystonia With Ringbinden |
|
Chorea |
OMIM:224550 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Stereotypy |
OMIM:608631 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Dystonic gait, Lower limb spasticity, Ataxia, Inability to walk, Cerebellar hypoplasia, Titubatio... |
ORPHA:280210 |
Pontocerebellar Hypoplasia, Type 2D |
|
Clonus, Cerebellar atrophy, Chorea, Spastic tetraplegia, Cerebral atrophy |
OMIM:613811 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency |
|
Abnormality of ocular abduction, Dysmetria, Limb dysmetria, Hypometric saccades, Dysdiadochokines... |
ORPHA:324262 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Parkinsonism, Dystonia, Cerebellar atrophy, Rigidity, Chorea, Neurodegeneration, Abnormality of e... |
OMIM:617672 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... |
OMIM:619028 |
Dystonia, Dopa-Responsive |
|
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... |
OMIM:128230 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Dementia, Impaired smooth pursuit, Gaze-evoked nystagmus, Abnormality of eye movement, Intention ... |
ORPHA:247234 |
Deafness-Infertility Syndrome |
|
Sensorineural hearing impairment, Male infertility, Azoospermia |
ORPHA:94064 |
Leukodystrophy, Hypomyelinating, 2 |
|
Progressive spasticity, Dystonia, Babinski sign, Head titubation, Rigidity, Choreoathetosis, Inte... |
OMIM:608804 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm morphology, Impaired vibration sensation at ankles, Babinski sign, Cerebellar atro... |
ORPHA:320391 |
Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... |
ORPHA:280397 |
Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism |
OMIM:614203 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cerebellar ... |
ORPHA:352403 |
Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Chorea |
OMIM:614055 |
Developmental And Epileptic Encephalopathy 56 |
|
Ataxia, Attention deficit hyperactivity disorder, Broad-based gait, Poor coordination |
OMIM:617665 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Involuntary movements, Gait disturbance, Dystonia, Chorea, Myoclonus, Ataxia, Craniofacial dyston... |
OMIM:617282 |
Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... |
OMIM:615528 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Dystonia, Gait disturbance, Babinski sign, Chorea, Bradykinesia, Resting tremor, Hemiplegia, Park... |
ORPHA:225147 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Babinski sign, Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Spastic par... |
ORPHA:139480 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Hypertonia, Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy |
OMIM:618730 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Ataxia, Corpus callosum atrophy, Spasti... |
OMIM:618088 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Babinski sign, Gait disturbance, Tremor |
OMIM:300660 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Inferior vermis hypoplasia, Tremor, Atax... |
OMIM:614831 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis... |
OMIM:600224 |
Alternating Hemiplegia Of Childhood 1 |
|
Tetraplegia, Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis |
OMIM:104290 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Cerebellar atrophy, Cerebral atrophy |
OMIM:609924 |
Urocanic Aciduria |
|
Ataxia, Truncal ataxia, Action tremor, Broad-based gait, Gait ataxia |
ORPHA:210128 |
Pontocerebellar Hypoplasia, Type 1E |
|
Hypoplasia of the pons, Myoclonus, Cerebellar atrophy, Cerebellar hypoplasia |
OMIM:619303 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Tongue fasciculations, Cerebral atr... |
OMIM:618170 |
Infantile Spasms Syndrome |
|
Myoclonus |
ORPHA:3451 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Babinski sign, Paroxysmal choreoathetosis, Frequent falls |
OMIM:500003 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Paresthesia, Choreoathetosis, Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegia, Abnorma... |
ORPHA:53583 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Stereotypy |
OMIM:300271 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Inability ... |
OMIM:618877 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Spastic Paraplegia Type 7 |
|
Babinski sign, Cerebellar atrophy, Spastic gait, Impaired vibration sensation in the lower limbs,... |
ORPHA:99013 |
Spinocerebellar Ataxia 48 |
|
Babinski sign, Dystonia, Cerebellar atrophy, Cachexia, Dysmetria, Chorea, Tremor, Ataxia, Parkins... |
OMIM:618093 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Dystonia, Babinski sign, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titubation, Cogw... |
OMIM:607483 |
Myoclonus-Dystonia Syndrome |
|
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus |
ORPHA:36899 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia, Dysmetria, Chorea, Memory impairment, Bradykinesia, Abnormal pyramidal sign, Ataxia, Me... |
OMIM:618317 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Babinski sign, Cerebellar atrophy, Progressive spastic paraplegia, Difficulty walking |
ORPHA:468661 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Cognitive impairment, Gait disturbance, Ataxia |
ORPHA:1178 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Upper limb dysmetria, Babinski sign, Cerebellar atrophy, Knee clonus, Upper limb spasticity, Infe... |
OMIM:614409 |
Alternating Hemiplegia Of Childhood 2 |
|
Dystonia, Episodic quadriplegia, Choreoathetosis, Nystagmus, Abnormality of eye movement, Tetrapl... |
OMIM:614820 |
Duane Retraction Syndrome 1 |
|
Impaired convergence, Impaired ocular abduction, Duane anomaly, Strabismus, Esotropia, Impaired o... |
OMIM:126800 |
Basal Ganglia Calcification, Idiopathic, 6 |
|
Involuntary movements, Parkinsonism, Choreoathetosis |
OMIM:616413 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... |
OMIM:607317 |
Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Difficulty walking, Fasciculations |
OMIM:615048 |
Spinocerebellar Ataxia 17 |
|
Dystonia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Neuronal loss in central nervous syste... |
OMIM:607136 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Rigidity, Bradykinesia, Fasciculations, Ataxia, Spasticity |
OMIM:183050 |
Retinal Dystrophy With Leukodystrophy |
|
Dysmetria, Truncal titubation, Waddling gait, Falls |
OMIM:618863 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Dystonia, Kinetic tremor, Chorea, Fasciculations, Cerebellar Purkinje layer atro... |
ORPHA:98756 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... |
OMIM:260300 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Gait disturbance, Lethargy |
ORPHA:79283 |
Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor fu... |
OMIM:300894 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Dysmetria, Chorea, Cerebellar vermis atrophy, Inability to walk, Ataxia, Gait ataxia |
OMIM:618501 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonis... |
ORPHA:71517 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus |
OMIM:217200 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Fasciculations, Intention tremor, Ataxia, Dysdiadochokinesis, Spasticity, Abn... |
OMIM:133190 |
Primary Dystonia, Dyt2 Type |
|
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Babinski sign, Lower limb spasticity, Abnormality of eye movement, Ataxia, Ankle clonus, Limb ata... |
ORPHA:488594 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Ataxia, Spasticity, Cerebellar atrophy, Spastic tetraplegia |
OMIM:617207 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Ataxia |
OMIM:619061 |
Spinocerebellar Ataxia 42 |
|
Impaired vibration sensation at ankles, Babinski sign, Cerebellar atrophy, Spastic gait, Spastic ... |
OMIM:616795 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Babinski sign, Cerebellar atrophy, Waddling gait, Spasticity, Cerebral atrophy |
OMIM:619090 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Babinski sign, Kinetic tremor, Rigidity, Spasticity, Head tremor, Parkinsonism, Limb at... |
ORPHA:101109 |
Developmental And Epileptic Encephalopathy 17 |
|
Athetosis, Dystonia, Chorea, Delayed myelination |
OMIM:615473 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Episodic Ataxia Type 4 |
|
Ataxia, Abnormal head movements, Incoordination, Frequent falls |
ORPHA:79136 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Athetosis, Dystonia, Abnormality of extrapyramidal motor function, Ataxia, Inability to walk |
OMIM:615159 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Ataxia, Cerebellar atrophy |
OMIM:618879 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Dystonia, Gait disturbance, Athetosis, Rigidity, Chorea, Bradykinesia, Limb dysmetr... |
OMIM:213600 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Dystonia, Choreoathetosis, Myoclonus, Inability to walk, Hyperkinetic movements |
OMIM:618497 |
Spinocerebellar Ataxia Type 19/22 |
|
Impaired vibration sensation at ankles, Cerebellar atrophy, Poor coordination, Cogwheel rigidity,... |
ORPHA:98772 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tr... |
ORPHA:314632 |
Ataxia, Deafness, And Cardiomyopathy |
|
Ataxia |
OMIM:208750 |
Corticobasal Syndrome |
|
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... |
ORPHA:454887 |
Spastic Paraparesis-Deafness Syndrome |
|
Gait disturbance, Impaired pain sensation, Hypogonadism, Ataxia, Spastic paraparesis, Hemiplegia/... |
ORPHA:2815 |
Dandy-Walker Syndrome |
|
Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Dilated fourth ventricle, Hy... |
OMIM:220200 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Choreoathetosis, Paroxysmal lethargy, Ataxia, Confusion, Lethargy |
OMIM:606777 |
Autosomal Dominant Striatal Neurodegeneration |
|
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity |
ORPHA:228169 |
X-Linked Intellectual Disability, Hedera Type |
|
Babinski sign, Gait disturbance, Cerebellar atrophy, Frequent falls, Dysmetria, Extrapyramidal mu... |
ORPHA:93952 |
3-Methylglutaconic Aciduria Type 3 |
|
Ataxia, Spastic paraparesis, Choreoathetosis |
ORPHA:67047 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Dystonia, Cerebellar atrophy, Dysmetria, Failure to thrive, Ataxia, Spasticity |
OMIM:617954 |
Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
3-Methylglutaconic Aciduria, Type Vii |
|
Cerebellar atrophy, Abnormality of extrapyramidal motor function, Spasticity, Cerebral atrophy, A... |
OMIM:616271 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Cerebellar atrophy, Azoospermia, Ataxia |
OMIM:613909 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Cerebellar atrophy |
OMIM:618302 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, B... |
OMIM:615157 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Babinski sign, Small for gestational age, Choreoathetosis, Dilated fourth ventricle, Torticollis,... |
OMIM:619054 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Babinski sign, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Atrophy of the s... |
ORPHA:445062 |
Leukodystrophy, Hypomyelinating, 18 |
|
Progressive spasticity, Babinski sign, Dystonia, Cerebellar atrophy, Dysmetria, Failure to thrive... |
OMIM:618404 |
Spinocerebellar Ataxia Type 27 |
|
Gait disturbance, Cerebellar atrophy, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia,... |
ORPHA:98764 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Hand tremor, Oromandibular dystonia, Myoclonus, Vocal tremor, Upper limb postural tr... |
ORPHA:420485 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Gait disturbance, Fasciculations |
OMIM:608030 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Impaired distal proprioception, Steppage gait, Global brain atrophy, Spastic dysarthria, Impaired... |
ORPHA:94124 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Ataxia, Apraxia |
ORPHA:85338 |
Schimke X-Linked Mental Retardation Syndrome |
|
Spasticity, Choreoathetosis |
OMIM:312840 |
Leukodystrophy, Hypomyelinating, 16 |
|
Dystonia, Dysmetria, Intention tremor, Hypertonia, Broad-based gait, Abnormal pyramidal sign, Gai... |
OMIM:617964 |
Spastic Ataxia 1, Autosomal Dominant |
|
Dystonia, Gait disturbance, Supranuclear gaze palsy, Slow saccadic eye movements, Spastic ataxia,... |
OMIM:108600 |
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures |
|
Chorea, Spasticity |
OMIM:613970 |
Paroxysmal Kinesigenic Dyskinesia |
|
Athetosis, Dystonia, Involuntary movements, Writer's cramp, Chorea |
ORPHA:98809 |
3-Methylglutaconic Aciduria, Type Iii |
|
Babinski sign, Chorea, Abnormality of extrapyramidal motor function, Ataxia, Spasticity |
OMIM:258501 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Attention deficit hyperactivity disorder, Gait ataxia, Shyness |
OMIM:618221 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Dystonia, Arm dystonia, Clonus, Opisthotonus, Axial dystonia, Head titubation, Upper limb spastic... |
ORPHA:300605 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Cerebellar atrophy, Myoclonus, Intention tremor, Action tremor, Gait ataxia |
OMIM:254900 |
Dystonia 11, Myoclonic |
|
Torticollis, Myoclonus, Writer's cramp, Tremor |
OMIM:159900 |
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
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Ataxia |
OMIM:158500 |
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
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Involuntary movements, Dystonia, Cerebellar atrophy, Chorea, Ataxia, Inability to walk, Cerebral ... |
OMIM:617804 |
Infantile Neuronal Ceroid Lipofuscinosis |
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Clumsiness, Dystonia, Cerebellar atrophy, Myoclonic spasms, Increased neuronal autofluorescent li... |
ORPHA:79263 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
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Dystonia, Cerebellar atrophy, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramida... |
ORPHA:139485 |
Spinocerebellar Ataxia Type 32 |
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Testicular atrophy, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Male infertility |
ORPHA:276183 |
Boucher-Neuhauser Syndrome |
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Cerebellar atrophy, Spinocerebellar atrophy, Hypogonadotropic hypogonadism, Intention tremor, Ata... |
OMIM:215470 |
Cyanide-Induced Parkinsonism-Dystonia |
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Rigidity, Shuffling gait, Bradykinesia, Falls, Resting tremor, Short stepped shuffling gait, Park... |
ORPHA:306692 |
N-Acetylaspartate Deficiency |
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Unsteady gait, Truncal ataxia, Stereotypy |
OMIM:614063 |
Spinocerebellar Ataxia 27 |
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Postural tremor, Cerebellar atrophy, Ataxia, Impaired vibratory sensation, Truncal ataxia, Head t... |
OMIM:609307 |
Lopes-Maciel-Rodan Syndrome |
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Dystonia, Cerebellar atrophy, Caudate atrophy, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Sp... |
OMIM:617435 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
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Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Br... |
OMIM:270500 |
Ataxia-Telangiectasia-Like Disorder |
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Dystonia, Cerebellar atrophy, Frequent falls, Dysmetria, Chorea, Dilated fourth ventricle, Myoclo... |
ORPHA:251347 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
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Steppage gait, Impaired temperature sensation, Impaired pain sensation, Limb fasciculations |
ORPHA:99940 |
Episodic Ataxia Type 6 |
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Slurred speech, Ataxia, Cerebellar atrophy, Hemiplegia |
ORPHA:209967 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
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Inability to walk, Cerebellar atrophy, Spasticity |
OMIM:617086 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
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Cerebellar atrophy, Poor motor coordination, Dysmetria, Dilated fourth ventricle, Tremor, Ataxia,... |
ORPHA:1170 |
Huntington Disease-Like 1 |
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Clumsiness, Gait disturbance, Involuntary movements, Cerebellar atrophy, Frequent falls, Dysmetri... |
ORPHA:157941 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
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Dystonia, Ataxia, Lethargy |
OMIM:618224 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
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Athetosis, Dystonia, Abnormal CNS myelination, Ataxia, Spasticity |
OMIM:612951 |
Leukodystrophy, Hypomyelinating, 9 |
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Dysmetria, Abnormality of extrapyramidal motor function, Intention tremor, Ataxia, Spasticity |
OMIM:616140 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
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Cerebellar atrophy, Dysmetria, Tremor, Inability to walk, Cerebellar hypoplasia, Apraxia, Spastic... |
OMIM:617810 |
Spinocerebellar Ataxia 13 |
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Cerebellar atrophy, Limb dysmetria, Progressive cerebellar ataxia, Abnormal pyramidal sign, Limb ... |
OMIM:605259 |
Leukodystrophy, Hypomyelinating, 21 |
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Athetosis, Dystonia, Cerebellar atrophy, Failure to thrive, Hypogonadotropic hypogonadism, Ataxia... |
OMIM:619310 |
Tremor, Hereditary Essential, 2 |
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Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
Camos Syndrome |
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Progressive extrapyramidal movement disorder, Ataxia, Aplasia/Hypoplasia of the cerebellum, Brain... |
ORPHA:83472 |
Epilepsy, Progressive Myoclonic, 6 |
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Tremor, Ataxia, Myoclonus, Difficulty walking |
OMIM:614018 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
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Stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Autosomal Recessive Spastic Paraplegia Type 67 |
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Babinski sign, Spastic gait, Limb tremor, Lower limb spasticity, Difficulty walking, Progressive ... |
ORPHA:401820 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
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