Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
Charcot-Marie-Tooth Disease, Axonal, Type 2V |
|
Paresthesia, Sensory ataxia, Distal sensory impairment |
OMIM:616491 |
Neuropathy, Hereditary Sensory, Atypical |
|
Ataxia, Babinski sign, Sensory ataxia |
OMIM:256860 |
Ataxia, Sensory, 1, Autosomal Dominant |
|
Babinski sign, Positive Romberg sign, Sensory ataxia, Gait instability, worse in the dark |
OMIM:608984 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Cerebral atrophy, Corpus callosum atrophy, Truncal ataxia, Cerebellar atrophy |
OMIM:615268 |
Spinocerebellar Ataxia 41 |
|
Ataxia, Unsteady gait, Cerebellar atrophy |
OMIM:616410 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617769 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
Autosomal Dominant Focal Dystonia, Dyt25 Type |
|
Torticollis, Lingual dystonia, Axial dystonia, Laryngeal dystonia, Craniofacial dystonia, Limb dy... |
ORPHA:329466 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Broad-based gait, Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy |
OMIM:605388 |
Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
ORPHA:211017 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Spinocerebellar Ataxia Type 5 |
|
Gait disturbance, Incoordination, Slurred speech, Cerebellar atrophy |
ORPHA:98766 |
Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
Dystonia 25 |
|
Torticollis, Lingual dystonia, Laryngeal dystonia, Limb dystonia |
OMIM:615073 |
Charcot-Marie-Tooth Disease, Axonal, Type 2T |
|
Unsteady gait, Distal sensory impairment |
OMIM:617017 |
Early-Onset Generalized Limb-Onset Dystonia |
|
Gait disturbance, Hypertonia |
ORPHA:256 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Tremo... |
OMIM:617831 |
Vertigo, Benign Recurrent |
|
Gait imbalance |
OMIM:193007 |
X-Linked Spastic Paraplegia Type 34 |
|
Impaired vibration sensation in the lower limbs, Ankle clonus, Babinski sign, Shuffling gait, Low... |
ORPHA:171607 |
Tapetoretinal Degeneration With Ataxia |
|
Ataxia |
OMIM:272600 |
Dravet Syndrome |
|
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness se... |
OMIM:607208 |
Primary Dystonia, Dyt17 Type |
|
Torticollis, Generalized dystonia, Craniofacial dystonia |
ORPHA:370103 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Ataxia, Inability to walk, Cerebellar atrophy |
OMIM:619333 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617133 |
Spinocerebellar Ataxia 30 |
|
Ataxia, Cerebellar atrophy |
OMIM:613371 |
Atonic-Astatic Syndrome Of Foerster |
|
Abasia, Ataxia, Inability to walk |
OMIM:209100 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Babinski sign, Progres... |
ORPHA:171622 |
Posterior Column Ataxia |
|
Impaired proprioception, Impaired vibratory sensation, Ataxia |
OMIM:176250 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Cerebral atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:611726 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:615957 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:616421 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
ORPHA:217012 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy |
OMIM:615945 |
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia |
|
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Episodic ataxia |
OMIM:168885 |
Spinocerebellar Ataxia 31 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:117210 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Ataxia, Babinski sign, Frequent falls, Impaired distal vibration sensation, Spasticity, Cerebella... |
OMIM:619742 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Impaired temperature sensation, Progressive cerebellar ataxia |
OMIM:212890 |
Autosomal Spastic Paraplegia Type 30 |
|
Diffuse cerebellar atrophy, Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dys... |
ORPHA:101010 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, Cerebral atrophy, Myoclonus, Increased neuronal autofluorescent lipopigment, Cerebellar a... |
OMIM:600143 |
Dystonia, Early-Onset, And/Or Spastic Paraplegia |
|
Spastic paraplegia, Dystonia, Difficulty walking, Laryngeal dystonia |
OMIM:619681 |
Spastic Paraplegia 61, Autosomal Recessive |
|
Spastic paraplegia, Scissor gait, Inability to walk, Spasticity |
OMIM:615685 |
Epilepsy, Progressive Myoclonic 7 |
|
Ataxia, Myoclonus, Tremor, Cerebellar atrophy, Seizure |
OMIM:616187 |
Dystonia 6, Torsion |
|
Torticollis, Oromandibular dystonia, Lingual dystonia, Laryngeal dystonia, Myoclonus, Writer's cr... |
OMIM:602629 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... |
OMIM:607682 |
Dystonia 17, Torsion, Autosomal Recessive |
|
Torticollis, Focal dystonia |
OMIM:612406 |
Spastic Paraplegia 24, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Tip-toe gait, Clonus |
OMIM:607584 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Generalized non-motor (absence) seizure, ... |
ORPHA:98811 |
Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Cerebellar atrophy |
ORPHA:423296 |
Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... |
OMIM:254770 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Perioral Myoclonia With Absences |
|
Generalized myoclonic seizure, Falls, Bilateral tonic-clonic seizure, Generalized non-motor (abse... |
ORPHA:139426 |
Epilepsy, Progressive Myoclonic, 6 |
|
Loss of ambulation, Ataxia, Atonic seizure, Myoclonus, Tremor, Difficulty walking, Bilateral toni... |
OMIM:614018 |
Spastic Ataxia With Congenital Miosis |
|
Ataxia, Hemiplegia/hemiparesis, Spastic ataxia, Seizure |
ORPHA:1182 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Developmental And Epileptic Encephalopathy 24 |
|
Status epilepticus, Ataxia, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age ra... |
OMIM:615871 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Cerebellar vermis atrophy, Brain atrophy, Limb ataxia, Truncal ataxia, Difficulty walking |
ORPHA:363432 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Clumsiness, Focal impaired awareness seizure, Cerebral atrophy, Bilateral tonic-clonic seizure, I... |
OMIM:610003 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Ataxia, Generalized myoclonic seizure, Cerebellar atrophy, Seizure |
OMIM:614706 |
Developmental And Epileptic Encephalopathy 9 |
|
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... |
OMIM:300088 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Paroxysmal dyskinesia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:609446 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... |
OMIM:607631 |
Dystonia With Cerebellar Atrophy |
|
Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia, Cerebellar atrophy, Dystonia |
OMIM:611694 |
Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... |
OMIM:600669 |
Dystonia 33 |
|
Axial dystonia, Babinski sign, Spasticity, Limb dystonia, Dystonia, Axial hypotonia |
OMIM:619687 |
Spinocerebellar Ataxia Type 4 |
|
Ataxia, Impaired vibratory sensation, Gait disturbance, Impaired proprioception, Impaired tactile... |
ORPHA:98765 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Focal impaired a... |
OMIM:618587 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... |
OMIM:607628 |
Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Falls, Myoclonus |
OMIM:614937 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Neuhauser-Eichner-Opitz Syndrome |
|
Hypertonia, Ataxia, Rigidity, Spasticity, Hypotonia |
ORPHA:2672 |
Episodic Ataxia, Type 5 |
|
Typical absence seizure, Atypical absence seizure, Ataxia, Myoclonus, Truncal ataxia, Febrile sei... |
OMIM:613855 |
Preimplantation Embryonic Lethality 2 |
|
Infertility |
OMIM:617234 |
Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Intention tremor, Myoclonus, Rigidity, Cerebellar vermis hypoplasia, Cerebellar atrophy, ... |
OMIM:618876 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy |
OMIM:616291 |
Spastic Paraplegia 32, Autosomal Recessive |
|
Cerebral atrophy, Ankle clonus, Babinski sign, Spastic paraplegia, Difficulty walking, Cerebellar... |
OMIM:611252 |
Paine Syndrome |
|
Spastic diplegia, Olivopontocerebellar hypoplasia, Cerebellar hypoplasia, Generalized myoclonic s... |
OMIM:311400 |
Developmental And Epileptic Encephalopathy 26 |
|
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... |
OMIM:616056 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... |
OMIM:617018 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... |
OMIM:604403 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Abnormal cerebellum morphology, Ataxia, Babinski sign, Difficulty walking, Spasticity, Generalize... |
OMIM:618242 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... |
OMIM:618357 |
Dystonia 4, Torsion, Autosomal Dominant |
|
Torticollis, Hemidystonia, Gait ataxia, Limb dystonia, Torsion dystonia, Generalized dystonia |
OMIM:128101 |
Developmental And Epileptic Encephalopathy 52 |
|
Atypical absence seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Limb ataxia, A... |
OMIM:617350 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
ORPHA:22 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... |
ORPHA:284332 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Atonic seizure, Inability to walk, Dysmetria, Myoclonic seizure, Cerebellar hypoplasia, Tremor, B... |
OMIM:617810 |
Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Cere... |
OMIM:616948 |
Cerebellar Ataxia And Albinism |
|
Ataxia, Head tremor, Olivopontocerebellar atrophy |
OMIM:258300 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:616685 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:616172 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Loss of ambulation, Ataxia, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Chorea, Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence... |
ORPHA:79137 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Ataxia, Gait ataxia, Unsteady gait, Cerebellar atrophy, Seizure |
OMIM:615705 |
Spinocerebellar Ataxia 46 |
|
Dysmetria, Limb ataxia, Positive Romberg sign, Gait ataxia, Cerebellar atrophy |
OMIM:617770 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bradykinesia, Generalized myoclonic seizure, Rigidity, Tremor, Bilateral tonic-clonic sei... |
OMIM:617836 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia |
OMIM:254800 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Myasthenic Syndrome, Congenital, 15 |
|
Fatigable weakness |
OMIM:616227 |
Angelman syndrome (Type 2) |
|
Truncal ataxia, Seizure |
DECIPHER:54 |
Angelman syndrome (Type 1) |
|
Truncal ataxia, Seizure |
DECIPHER:4 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Focal impaired awareness seizure, Gener... |
ORPHA:36387 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Cerebellar ... |
ORPHA:94122 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Limb ataxia, Babinski sign, Gait ataxia, Spasticity, Cerebellar atrophy, Seizure |
OMIM:614322 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Abnormal cerebellum morphology, Ataxia, Myoclonus, Babinski sign, Diffuse cerebral atrophy, Tremo... |
OMIM:615362 |
Developmental And Epileptic Encephalopathy 67 |
|
Generalized myoclonic seizure, Athetosis, Gait disturbance, Generalized non-motor (absence) seizu... |
OMIM:618141 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Bilateral tonic-clonic seizure with focal onset, Cerebellar atrophy, Seizure |
OMIM:617643 |
Benign Familial Infantile Epilepsy |
|
Status epilepticus, Focal motor seizure, Hypertonia, Focal impaired awareness seizure, Generalize... |
ORPHA:306 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604233 |
Epilepsy, Progressive Myoclonic, 1B |
|
Atonic seizure, Generalized myoclonic seizure, Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Status epilepticus, Ataxia, Action tremor, Focal motor seizure, Poor coordinati... |
OMIM:617665 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Ataxia |
ORPHA:1397 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Generalized myoclonic seizure, Rigidity, Gait disturbance, Tremor, ... |
OMIM:618090 |
Continuous Spikes And Waves During Sleep |
|
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... |
ORPHA:725 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... |
OMIM:613863 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:617924 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Seizure, Dysto... |
OMIM:614561 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Fascic... |
OMIM:613728 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait, Cerebellar atrophy |
OMIM:617917 |
Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Atrophy/Degeneration affecting the brai... |
OMIM:616230 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Ataxia, EEG abnormality, Inability to walk, Cerebellar hypoplasia, Spastic tetraplegia |
OMIM:618174 |
Episodic Kinesigenic Dyskinesia 2 |
|
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea |
OMIM:611031 |
Juvenile Absence Epilepsy |
|
Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic ... |
ORPHA:1941 |
Spinocerebellar Ataxia 23 |
|
Neuronal loss in central nervous system, Dysmetria, Limb ataxia, Impaired vibration sensation in ... |
OMIM:610245 |
Developmental And Epileptic Encephalopathy 43 |
|
Atypical absence seizure, Ataxia, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral ... |
OMIM:617113 |
Developmental And Epileptic Encephalopathy 94 |
|
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, EEG with genera... |
OMIM:615369 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Pontocerebellar atrophy, Dysd... |
OMIM:616053 |
Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... |
ORPHA:363710 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... |
OMIM:600512 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin... |
OMIM:616461 |
Dystonia 23 |
|
Torticollis, Axial dystonia, Cerebral cortical atrophy, Myoclonus, Head tremor, Gait disturbance,... |
OMIM:614860 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome |
|
Focal hemifacial clonic seizure, Prolonged somatosensory evoked potentials, EEG with parietal foc... |
ORPHA:163727 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis |
OMIM:300388 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:613060 |
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia |
|
Episodic ataxia |
ORPHA:1179 |
Episodic Ataxia, Type 7 |
|
Episodic ataxia |
OMIM:611907 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Inability to walk... |
ORPHA:2590 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Choreoathetosis, Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, Cer... |
OMIM:301020 |
Developmental And Epileptic Encephalopathy 33 |
|
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Unst... |
OMIM:616409 |
Juvenile Myoclonic Epilepsy |
|
Status epilepticus, Morning myoclonic jerks, Febrile seizure (within the age range of 3 months to... |
ORPHA:307 |
Developmental And Epileptic Encephalopathy 38 |
|
Hypertonia, Ataxia, Generalized hypotonia, Dystonia |
OMIM:617020 |
Hydatidiform Mole, Recurrent, 3 |
|
Infertility |
OMIM:618431 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Dystonia 15, Myoclonic |
|
Writer's cramp, Myoclonus, Dystonia |
OMIM:607488 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 1 |
|
Ataxia, Spasticity, Seizure |
OMIM:604004 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Ataxia |
OMIM:212850 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Somatic sensory dysfunction, Hand tremor, Steppage gait |
OMIM:300905 |
Developmental And Epileptic Encephalopathy 19 |
|
Status epilepticus, EEG with photoparoxysmal response, Atonic seizure, Focal hemiclonic seizure, ... |
OMIM:615744 |
Spinocerebellar Ataxia Type 23 |
|
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... |
ORPHA:101108 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Pontocerebellar atrophy, Dysd... |
ORPHA:423275 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Ataxia |
ORPHA:1180 |
Developmental Delay With Dysmorphic Facies And Dental Anomalies |
|
Ataxia, EEG abnormality, Spasticity, Seizure, Hypotonia |
OMIM:619228 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Abnormal cerebellum morphology, Ataxia, Myoclonus, Myoclonic seizure, Parkinsonism, Bilateral ton... |
OMIM:162350 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Clumsiness, Dysmetria, Intention tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:608029 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Dysmetria, Babinski sign, Truncal ataxia, Cerebellar hypoplasia |
OMIM:617584 |
Jeavons Syndrome |
|
EEG with focal spikes, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure with gen... |
ORPHA:139431 |
Striatonigral Degeneration, Childhood-Onset |
|
Hypertonia, Loss of ambulation, Craniofacial dystonia, Unsteady gait, Dystonia |
OMIM:617054 |
Megalencephaly With Dysmyelination |
|
EEG with photoparoxysmal response, Ataxia, Spasticity, Seizure |
OMIM:249240 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Cerebellar hypoplasia, Tremor, Spastici... |
OMIM:615768 |
Bilateral Frontoparietal Polymicrogyria |
|
Typical absence seizure, Gait imbalance, Abnormal cerebellum morphology, Bilateral tonic-clonic s... |
ORPHA:101070 |
Dystonia 30 |
|
Torticollis, Leg dystonia, Loss of ambulation, Oromandibular dystonia, Writer's cramp, Dystonia, ... |
OMIM:619291 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus, Seizure |
OMIM:616366 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy, Seizure |
OMIM:141500 |
Spinocerebellar Ataxia 4 |
|
Progressive cerebellar ataxia, Babinski sign, Distal sensory impairment, Limb dysmetria, Cerebell... |
OMIM:600223 |
Gordon Holmes Syndrome |
|
Ataxia, Cerebral atrophy, Cerebellar atrophy |
OMIM:212840 |
Developmental And Epileptic Encephalopathy 13 |
|
Clonic seizure, Focal hemiclonic seizure, Cerebral atrophy, Tonic seizure, Bilateral tonic-clonic... |
OMIM:614558 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Prolonged miniature endplate currents, Decreased miniature endplate potentials |
OMIM:616321 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Myoclonus, Ataxia, Generalized myoclonic seizure, Seizure |
OMIM:208700 |
Primary Dystonia, Dyt21 Type |
|
Torticollis, Axial dystonia, Blepharospasm, Laryngeal dystonia, Limb dystonia, Focal dystonia, Dy... |
ORPHA:306734 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Intention tremor, Ataxia, Action tremor, Cerebellar atrophy |
OMIM:302500 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... |
OMIM:617862 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Seizure, Foca... |
OMIM:615400 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure, Multifocal epileptiform d... |
OMIM:618596 |
Myoclonic Epilepsy Of Infancy |
|
Hemiplegia, Generalized myoclonic seizure, Myoclonus, Febrile seizure (within the age range of 3 ... |
ORPHA:86909 |
Spinocerebellar Ataxia Type 12 |
|
Abnormal cerebellum morphology, Ataxia, Bradykinesia, Cerebral atrophy, Action tremor, Poor fine ... |
ORPHA:98762 |
Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... |
OMIM:607681 |
Autosomal Recessive Spastic Paraplegia Type 24 |
|
Tip-toe gait, Spastic paraplegia, Scissor gait, Spasticity, Clonus |
ORPHA:101004 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Hypertonia, Ataxia, Cerebral atrophy, Cerebellar atrophy, Seizure, Upper limb spasticity, Lower l... |
OMIM:613925 |
Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia, Cerebellar atrophy |
OMIM:607458 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Clumsiness, Dysmetria, Myoclonus, Dysdiadochokinesis, Increased neuronal autofluorescent ... |
OMIM:256731 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Torticollis, Brain atrophy, Bilateral tonic-clonic seizure, Seizure, Myoclonic absence seizure |
OMIM:612621 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia |
OMIM:615889 |
Spinocerebellar Ataxia Type 26 |
|
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Progressive gait ataxi... |
ORPHA:101112 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Inability to walk, Abnormality of extrapyramidal motor function, Generalized hypotonia, A... |
OMIM:615159 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
Isolated Cerebellar Agenesis |
|
Hypertonia, Ataxia, Seizure |
ORPHA:1398 |
Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Seizure |
OMIM:616921 |
Primary Dystonia, Dyt6 Type |
|
Torticollis, Lingual dystonia, Blepharospasm, Laryngeal dystonia, Craniofacial dystonia, Limb dys... |
ORPHA:98806 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Inability to walk, Focal hemiclonic seizure, Tonic seizure, Myoclonus, ... |
OMIM:619317 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:618482 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Spastic paraplegia, Cerebellar atrophy, Spastic g... |
OMIM:610357 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Loss of ambulation, Ataxia, Cerebral atrophy, Dysmetria, Spasticity, Cerebellar atrophy |
OMIM:617916 |
Landau-Kleffner Syndrome |
|
Focal impaired awareness seizure, Focal myoclonic seizure, Slurred speech, Atypical absence seizu... |
ORPHA:98818 |
Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
Febrile Seizures, Familial, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:611634 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Ataxia, Seizure |
OMIM:619061 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Ataxia, Cerebellar vermis atrophy, Cerebral atrophy, Multifocal seizures, Dysmetria, Intention tr... |
OMIM:618170 |
Developmental And Epileptic Encephalopathy 99 |
|
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... |
OMIM:619606 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... |
OMIM:611302 |
Dystonia, Focal, Task-Specific |
|
Writer's cramp |
OMIM:611284 |
Dystonia 35, Childhood-Onset |
|
Dystonia |
OMIM:619921 |
Developmental And Epileptic Encephalopathy 57 |
|
Atypical absence seizure, Generalized myoclonic seizure, Seizure |
OMIM:617771 |
Torsion Dystonia With Onset In Infancy |
|
Torsion dystonia |
OMIM:602554 |
Neurodegeneration With Brain Iron Accumulation |
|
Abnormality of extrapyramidal motor function, Rigidity, Chorea, Spasticity, Cerebellar atrophy, D... |
ORPHA:385 |
Ataxia-Oculomotor Apraxia 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Frequent falls, Cerebellar atrophy, Oculomotor apraxia |
OMIM:615217 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Intention tremor, Freq... |
ORPHA:512260 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Female Restricted Epilepsy With Intellectual Disability |
|
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... |
ORPHA:101039 |
Developmental And Epileptic Encephalopathy 37 |
|
Focal hemiclonic seizure, Cerebral atrophy, Myoclonus, Rigidity, Hyperkinetic movements, Chorea, ... |
OMIM:616981 |
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Ataxia, Cerebellar vermis atrophy, Inability to walk, Corpus callosum atrophy, Cerebellar atrophy... |
OMIM:619389 |
Intellectual Developmental Disorder, Autosomal Dominant 46 |
|
Focal impaired awareness seizure, Brain atrophy, Tonic seizure, Infantile spasms, Unsteady gait, ... |
OMIM:617601 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... |
OMIM:617633 |
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration |
|
Ataxia |
OMIM:242520 |
Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Spastic tetraparesis, Brain atrophy, Cerebellar atrophy, Seizure |
OMIM:618741 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Foca... |
OMIM:117360 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Gait ataxia, Limb ataxia |
ORPHA:284282 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
Episodic Ataxia, Type 8 |
|
Intention tremor, Ataxia, Slurred speech, Episodic ataxia |
OMIM:616055 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Cerebellar atrophy, Unsteady gait |
ORPHA:284271 |
Lennox-Gastaut Syndrome |
|
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... |
ORPHA:2382 |
Dystonia 31 |
|
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Arm dyston... |
OMIM:619565 |
Spinocerebellar Ataxia 26 |
|
Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Incoordination |
OMIM:609306 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absen... |
OMIM:619157 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramidal sign, Truncal ataxia, F... |
ORPHA:95434 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Torticollis, Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:118800 |
Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:128200 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Appendicular hypotonia, Ataxia, Clumsiness, Dysmetria, Limb ataxia, Intention t... |
OMIM:616127 |
Autosomal Recessive Spastic Paraplegia Type 56 |
|
Tip-toe gait, Babinski sign, Spastic paraplegia, Unsteady gait, Spastic gait, Dystonia |
ORPHA:320411 |
Myasthenic Syndrome, Congenital, 18 |
|
Fatigable weakness |
OMIM:616330 |
Spinocerebellar Ataxia Type 43 |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Distal sensory impairment,... |
ORPHA:497764 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Cerebe... |
OMIM:609270 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset |
OMIM:611630 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Difficulty walking, Abnormal pyramidal sign, Progressive cerebellar ataxia, Postural tremor |
ORPHA:85292 |
Developmental And Epileptic Encephalopathy 76 |
|
Inability to walk, Cerebral atrophy, Cerebellar atrophy, Seizure, Upper limb spasticity, Lower li... |
OMIM:618468 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
Dystonia With Ringbinden |
|
Gait disturbance, Dystonia, Chorea |
OMIM:224550 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
Myasthenic Syndrome, Congenital, 13 |
|
Fatigable weakness |
OMIM:614750 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Dysmetria, Myoclonus, Tremor, Cere... |
OMIM:619028 |
Dystonia 32 |
|
Torticollis, Laryngeal dystonia, Limb dystonia |
OMIM:619637 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Cerebral atrophy, Distal sensory impairment, Cerebellar atrophy, Seizure, Steppage gait |
OMIM:607250 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Ataxia, Generalized myoclonic seizure, Hyperkinetic movements, Bilateral toni... |
OMIM:271980 |
Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Cerebellar atrophy, Seizure |
OMIM:613402 |
Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Ataxia, Distal sensory impairment |
OMIM:212710 |
Huntington Disease |
|
Neuronal loss in central nervous system, Bradykinesia, Rigidity, Chorea, Gait ataxia, Cerebellar ... |
OMIM:143100 |
Ataxia-Oculomotor Apraxia 4 |
|
Oculomotor apraxia, Ataxia, Tetraplegia, Cerebellar atrophy |
OMIM:616267 |
Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:617691 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Cerebral atrophy, Babinski sign, Parkinsonism, Rigidity, Falls, Gait... |
OMIM:300423 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, Cerebral atrophy, Generalized myoclonic seizure, Neurodegeneration, Cerebellar atrophy |
OMIM:610951 |
Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Gait disturbance, Tremor, Progressive spasticity, Cerebellar at... |
OMIM:210000 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Cerebral atrophy, Spastic tetr... |
OMIM:618730 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Cerebral cortical atroph... |
OMIM:604326 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... |
ORPHA:284324 |
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum |
|
Tip-toe gait, Babinski sign, Spastic paraplegia, Unsteady gait, Dystonia |
OMIM:615030 |
Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Neuronal loss in central nervous system, Blepharospasm, Cerebellar Purkinje ... |
ORPHA:98759 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Atrophy of the dentate nucleus, Dystonia |
OMIM:125370 |
Lissencephaly 10 |
|
Torticollis, Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Tonic se... |
OMIM:618873 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2 |
|
Difficulty walking, Rigidity, Dystonia, Sensory ataxia |
OMIM:619661 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, EEG abnormality, Focal motor status epilepticus, Poor coordination, Fal... |
OMIM:619150 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Seizure |
OMIM:612016 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Apraxia, Ataxia, Seizure |
ORPHA:85338 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Intention tremor, Tremor by anatomical site, Abnormal pyr... |
ORPHA:101110 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:614280 |
Paroxysmal Nonkinesigenic Dyskinesia 2 |
|
Paroxysmal dystonia |
OMIM:611147 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... |
OMIM:607671 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Inability to walk, Cerebellar atrophy, Gait ataxia |
OMIM:617915 |
Paroxysmal Kinesigenic Dyskinesia |
|
Chorea, Athetosis, Writer's cramp, Involuntary movements, Dystonia |
ORPHA:98809 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... |
OMIM:616204 |
Pontocerebellar Hypoplasia, Type 2C |
|
Cerebellar hemisphere hypoplasia, Cerebellar vermis hypoplasia, Dystonia, Chorea |
OMIM:612390 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, EEG abnormality, Inability to walk, Myoclonus, Difficulty walking, Spasticity, Seizure, D... |
OMIM:617829 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity |
ORPHA:401840 |
Spinocerebellar Ataxia Type 25 |
|
Abnormal cerebellar cortex morphology, Diffuse cerebellar atrophy, Progressive cerebellar ataxia,... |
ORPHA:101111 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... |
OMIM:607565 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Dravet Syndrome |
|
Focal impaired awareness seizure, Cogwheel rigidity, Photosensitive myoclonic seizure, Photosensi... |
ORPHA:33069 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Upper limb spasticity, Babinski sign, Spastic gait, Lower limb spasticity, Dystonia |
OMIM:619966 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Ataxia, Dysmetria, Limb ataxia, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:610743 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Nescav Syndrome |
|
Cerebellar vermis atrophy, Inability to walk, Cerebral atrophy, Babinski sign, Spasticity, Cerebe... |
OMIM:614255 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Cerebellar atrophy, Steppage gait |
OMIM:618387 |
Infantile Convulsions And Choreoathetosis |
|
Focal impaired awareness seizure, Experiential epileptic aura, Chorea, Athetosis, Complex febrile... |
ORPHA:31709 |
Pontocerebellar Hypoplasia, Type 2D |
|
Cerebral atrophy, Chorea, Spastic tetraplegia, Cerebellar atrophy, Clonus, Seizure |
OMIM:613811 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Developmental And Epileptic Encephalopathy 7 |
|
Spastic tetraparesis, Generalized hypotonia, Dystonia, Hypotonia |
OMIM:613720 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Torticollis, Cerebral atrophy, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:618369 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal... |
OMIM:614417 |
Maple Syrup Urine Disease |
|
Ataxia, Hemiplegia/hemiparesis, Seizure |
ORPHA:511 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Cerebral atrophy, Myoclonus, Bilateral tonic-clonic seizure, Increased neuronal autofluor... |
OMIM:204300 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Cerebral cortical atrophy, Progressive cerebellar ataxia, Spastic ataxia, Dysmetria, Cerebellar h... |
ORPHA:314603 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Ataxia |
OMIM:136600 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Gait disturbance, Involuntary movements, Spasti... |
OMIM:617282 |
Choreoathetosis, Familial Inverted |
|
Progressive choreoathetosis, Abnormal pyramidal sign, Rigidity, Gait disturbance, Seizure |
OMIM:118750 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... |
ORPHA:251282 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Gait disturbance, Tremor, Kinetic tremor |
OMIM:611808 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Cerebellar atrophy, Seizure |
OMIM:615596 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:615386 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Focal motor seizure, Spastic paraparesis, Complex febrile seizure, Bilateral tonic-clonic seizure... |
OMIM:619338 |
Spinocerebellar Ataxia 49 |
|
Loss of ambulation, Ataxia, Dysmetria, Dysdiadochokinesis, Babinski sign, Cerebellar atrophy, Uns... |
OMIM:619806 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Cerebral atrophy, Cerebral palsy, Hypoplasia of the pons, Spasticity, Cerebellar atrophy, Seizure |
OMIM:618973 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive cerebellar ataxia, Cerebral atrophy, Myoclonus, Limb myoclonus, Febrile seizure (with... |
ORPHA:263516 |
Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Epileptic spasm, Stereotypical hand wringing, Tremor, Seizure |
OMIM:619561 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... |
ORPHA:99657 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Hypertonia, Ataxia, EEG abnormality, Cerebral cortical atrophy, Olivopontocerebellar atrophy |
ORPHA:2732 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Ataxia, Truncal ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:614229 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Ataxia, Babinski sign, Atrophy of the spinal cord, Gait disturbance, Progressive spastic parapleg... |
OMIM:612020 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Loss of ambulation, Ataxia, Cerebral atrophy, Rigidity, Seizure |
OMIM:609055 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... |
ORPHA:98810 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Clonic seizure, Inability to walk, Cerebral atrophy, Tonic seizure, Stereotypic... |
OMIM:618917 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
EEG abnormality, Inability to walk, Convulsive status epilepticus, Stereotypical hand wringing, C... |
OMIM:618760 |
Alternating Hemiplegia Of Childhood 2 |
|
Status epilepticus, Hemiplegia, Ataxia, Episodic quadriplegia, Choreoathetosis, Seizure, Dystonia... |
OMIM:614820 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Progressive spastic paraparesis, Cerebellar atrophy, Seizure, Spastic tetraparesis, Spastic ataxia |
ORPHA:496756 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Cerebral cortical atrophy, Bradykinesia, Resting tremor, Impaired vibratory sensation, Ba... |
OMIM:617225 |
Spinocerebellar Ataxia Type 14 |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremo... |
ORPHA:98763 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Spinocerebellar Ataxia 14 |
|
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Dysmetria, Gait ataxia, Ce... |
OMIM:605361 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Intention tremor, Gait ataxia |
OMIM:601238 |
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis, Cerebellar... |
OMIM:606183 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity, Cerebellar at... |
OMIM:616719 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Gait disturbance, Ataxia |
ORPHA:2274 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Broad-based gait, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, Cerebellar hyp... |
OMIM:224050 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Paroxysmal dyskinesia,... |
ORPHA:53583 |
Spastic Ataxia 3, Autosomal Recessive |
|
Cerebral cortical atrophy, Spastic ataxia, Dysmetria, Gait ataxia, Spasticity, Cerebellar atrophy... |
OMIM:611390 |
Dystonia 16 |
|
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, Limb dystonia, P... |
ORPHA:210571 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Spastic Ataxia 5, Autosomal Recessive |
|
Ataxia, Generalized myoclonic seizure, Dysmetria, Spastic paraparesis, Myoclonus, Dysdiadochokine... |
OMIM:614487 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Ataxia, Cerebral atrophy, Dysmetria, Corpus callosum atrophy, Choreoathetosis, Spasticity, Cerebe... |
OMIM:618088 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Gait ataxia, Slurred speech, Cerebellar atrophy, Seizure |
OMIM:619323 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum, Tre... |
ORPHA:79262 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal hemifacial clonic seizure, Prolonged somatosensory evoked potentials, Myoclonus, Writer's c... |
OMIM:608105 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Frequent falls, Tremor, Dystonia, Axial hypotonia |
OMIM:619647 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinsk... |
ORPHA:521406 |
Spinocerebellar Ataxia Type 29 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, ... |
ORPHA:208513 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Abnormal cerebellum morphology, Clumsiness, Dysmetria, Poor coordination, Ankle... |
OMIM:270500 |
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain |
|
Ataxia, Cerebral degeneration |
OMIM:260970 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... |
OMIM:614831 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Cerebellar vermis atrophy, Pain insensitivity, Impaired vibration sensation in the lower ... |
ORPHA:94124 |
Diaminopentanuria |
|
Ataxia, Neurodegeneration, Spasticity, Seizure |
OMIM:222350 |
Spinocerebellar Ataxia 15 |
|
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Postural tremor |
OMIM:606658 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus |
ORPHA:308 |
Developmental And Epileptic Encephalopathy 69 |
|
Status epilepticus, EEG abnormality, Inability to walk, Myoclonus, Hyperkinetic movements, Spasti... |
OMIM:618285 |
X-Linked Progressive Cerebellar Ataxia |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria, Limb ataxia, Int... |
ORPHA:1175 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:611364 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
Spastic Ataxia 1, Autosomal Dominant |
|
Spastic paraplegia, Gait disturbance, Dystonia, Spastic ataxia |
OMIM:108600 |
Spinocerebellar Ataxia 5 |
|
Dysmetria, Limb ataxia, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis, Gait ... |
OMIM:600224 |
Developmental And Epileptic Encephalopathy 27 |
|
Myoclonus, Infantile spasms, Myoclonic seizure, Epileptic spasm, Chorea, Bilateral tonic-clonic s... |
OMIM:616139 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:600116 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Normal interictal EEG, Generalized-onset seizure, Focal-onset seizure, Paroxysmal dystonia, Parox... |
OMIM:602066 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Ataxia, Inability to walk, Hypoplasia of the pons, Tetraparesis, Global brain atrophy, Spasticity... |
OMIM:618276 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia |
ORPHA:2589 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, S... |
ORPHA:352403 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Generalized hypotonia, Parkinsonism, Craniofacial dyst... |
ORPHA:71517 |
Spinocerebellar Ataxia Type 28 |
|
Limb ataxia, Babinski sign, Rigidity, Head tremor, Parkinsonism, Kinetic tremor, Gait ataxia, Spa... |
ORPHA:101109 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Gait disturbance, Tremor, Babinski sign, Spastic paraplegia |
OMIM:300660 |
Rolandic Epilepsy |
|
Atypical absence seizure, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:1945 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Infantile muscular hypotonia, Dysmetria, Intention tremor, Babinski sign, Nonprogress... |
ORPHA:453521 |
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors |
|
Fatigable weakness |
OMIM:254190 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Cerebral atrophy, Ankle clonus, Babinski sign, Generalized-onset seizure, Spas... |
OMIM:616657 |
Blepharonasofacial Malformation Syndrome |
|
Torsion dystonia |
OMIM:110050 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypertonia, Myoclonic seizure, Infantile spasms, Hypoplasia of the pons, Cerebellar hypoplasia, G... |
OMIM:618677 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Status epilepticus, Hypertonia, Ataxia, EEG abnormality, Extrapyramidal dyskinesia, Myoclonus, He... |
ORPHA:71277 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Ataxia, Spastic tetraplegia, Spasticity, Cerebellar atrophy, Seizure |
OMIM:617207 |
Leukodystrophy, Hypomyelinating, 14 |
|
Cerebral atrophy, Generalized hypotonia, Spasticity, Cerebellar atrophy, Dystonia |
OMIM:617899 |
Camos Syndrome |
|
Ataxia, Brain atrophy, Aplasia/Hypoplasia of the cerebellum, Progressive extrapyramidal movement ... |
ORPHA:83472 |
Developmental And Epileptic Encephalopathy 103 |
|
Ataxia, Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Tonic seizure... |
OMIM:619913 |
Dystonia 7, Torsion |
|
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... |
OMIM:602124 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Status epilepticus, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... |
ORPHA:330050 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Cerebral cortical atrophy, Clumsiness, Cerebral atrophy, Brain atrophy, Dysmetria, Poor f... |
ORPHA:79263 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Atrophy/Degeneration affecting the brainstem, Limb myoclo... |
OMIM:619862 |
Dysequilibrium Syndrome |
|
Gait disturbance, Cerebral palsy, Ataxia, Seizure |
ORPHA:1766 |
Epilepsy, Nocturnal Frontal Lobe, 4 |
|
Nocturnal seizures, Dystonia |
OMIM:610353 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis, Dystonia, Tetraplegia |
OMIM:104290 |
Spinocerebellar Ataxia Type 11 |
|
Gait imbalance, Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Dystonia |
ORPHA:98767 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Erratic myoclonus, Ataxia, Myoclonus, Epileptic spasm, Cerebellar hypoplasia, Atrophy/Degeneratio... |
OMIM:619971 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Ataxia, Cerebellar atrophy, Seizure |
OMIM:618879 |
Ataxia, Deafness, And Cardiomyopathy |
|
Ataxia |
OMIM:208750 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor |
OMIM:619491 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Dysmetria, Dysdiadochokinesis, Cerebellar hypoplasia, Truncal ataxia, Tremor, Aplasia of the infe... |
OMIM:610185 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Cerebral atrophy, Myoclonus, Increased extraneuronal autofluorescent lipopigment, Increas... |
OMIM:204500 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Paresthesia, Respiratory insufficiency, Decreased motor nerve conduction velocity, Vocal cord par... |
ORPHA:640 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Decreased ... |
OMIM:254210 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormal peripheral action potential amplitude, Aspiration pneumonia, Limb fasciculations, Distal... |
ORPHA:90117 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Babinski sign, Atrophy of the spinal cord, Spastic paraplegia, Gait ataxia, Cerebellar atrophy, L... |
ORPHA:139480 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Cerebellar hypoplasia, Tremor, Gait ataxia, Spasticity, Unsteady ... |
OMIM:213200 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Ataxia, Cerebral atrophy, Cerebellar hypoplasia, Generalized non-motor (absence) seizure, Eyelid ... |
OMIM:613839 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... |
OMIM:617284 |
Episodic Ataxia, Type 9 |
|
Status epilepticus, Clonic seizure, Tonic seizure, Cerebellar edema, Bilateral tonic-clonic seizu... |
OMIM:618924 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Dystonia, Inability to walk, Spastic tetraplegia |
OMIM:618646 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Neuronal loss in central nervous system, Ataxia, Bradykinesia, Limb ataxia, Dys... |
OMIM:607136 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Cerebral cortical atrophy, Cerebral atrophy, Abnormal pyramidal sign, Parkinsonism, Neuro... |
OMIM:617672 |
Episodic Ataxia Type 6 |
|
Hemiplegia, Ataxia, Cerebellar atrophy, Seizure, Slurred speech |
ORPHA:209967 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, EEG abnormality, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Para... |
OMIM:606777 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Spastic hemiparesis, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Spastic... |
OMIM:619616 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... |
ORPHA:248111 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Cerebellar vermis atrophy, Inability to walk, Dysmetria, Chorea, Gait ataxia |
OMIM:618501 |
Epilepsy, Familial Temporal Lobe, 4 |
|
Focal sensory seizure with visual features, Focal impaired awareness seizure, Focal aware seizure |
OMIM:611631 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Abnormal cerebellum morphology, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkins... |
OMIM:618317 |
Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Ataxia, Impaired vibration sensation at ankles, Limb ataxia, Poor coordination,... |
ORPHA:98772 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure, Focal-onset seizure |
OMIM:615476 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Torticollis, Impaired vibratory sensation, Babinski sign, Lower limb spasticity, Spastic parapleg... |
OMIM:619686 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Difficulty walking, Progressive spast... |
ORPHA:401820 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Broad-based gait, Hypertonia, Bradykinesia, Limb hypertonia, Generalized hypotonia, Parkinsonism,... |
OMIM:617384 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
EEG with polyspike wave complexes, Increased theta frequency activity in EEG, Myoclonic seizure, ... |
OMIM:619000 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Progressive cerebellar ataxia, Focal impaired awareness seizure, Myocl... |
ORPHA:485350 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... |
OMIM:617145 |
Chorea, Benign Hereditary |
|
Gait disturbance, Chorea |
OMIM:118700 |
Cln5 Disease |
|
Ataxia, Atrophy/Degeneration affecting the central nervous system, Cerebral cortical atrophy, Ina... |
ORPHA:228360 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Status epilepticus, Ataxia, Infantile muscular hypotonia, Infantile spasms, Tetraparesis, Spastic... |
ORPHA:263410 |
Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy, EEG abnormality, Seizure |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy, EEG abnormality, Seizure |
OMIM:300425 |
Autism |
|
Motor stereotypy, EEG abnormality, Seizure |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy, EEG abnormality, Seizure |
OMIM:607373 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, EEG abnormality, Seizure |
OMIM:608636 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Spinal myoclonus, Myoclonus, Limb myoclonus, Writer's cramp, Dystonia |
ORPHA:36899 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Ataxia, Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Spastic a... |
ORPHA:2572 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Developmental And Epileptic Encephalopathy 30 |
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Motor stereotypy, Respiratory distress, Generalized myoclonic seizure, Bilateral tonic-clonic sei... |
OMIM:616341 |
Spinocerebellar Ataxia 48 |
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Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Bilateral tonic-clonic seizure, G... |
OMIM:618093 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
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Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Motor stereotyp... |
ORPHA:178469 |
Familial Infantile Myoclonic Epilepsy |
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Bilateral tonic-clonic seizure with generalized onset, Ataxia, Clumsiness, Blepharospasm, General... |
ORPHA:352582 |
Hemidystonia-Hemiatrophy Syndrome |
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Abnormal pyramidal sign, Babinski sign, Hemiparesis, Limb dystonia, Seizure, Dystonia |
ORPHA:306741 |
Spastic Paraplegia 80, Autosomal Dominant |
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Bradykinesia, Limb ataxia, Babinski sign, Spastic paraplegia, Gait disturbance, Upper limb spasti... |
OMIM:618418 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
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Torticollis, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Head titubation, Spasticity, L... |
OMIM:617560 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
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Ataxia, Inability to walk, Clumsiness, Focal impaired awareness seizure, Generalized myoclonic se... |
ORPHA:1947 |
Dystonia 11, Myoclonic |
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Torticollis, Myoclonus, Generalized hypotonia, Tremor, Writer's cramp, Hypotonia |
OMIM:159900 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
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Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... |
OMIM:615157 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
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Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:619964 |
Progressive Myoclonic Epilepsy With Dystonia |
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Status epilepticus, Hemiplegia, Diffuse cerebellar atrophy, Generalized myoclonic seizure, Myoclo... |
ORPHA:352596 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
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EEG abnormality, Inability to walk, Severe muscular hypotonia, Oculogyric crisis, Myoclonus, Hype... |
OMIM:614254 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
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Ataxia, Cerebral atrophy, Dysmetria, Tremor, Titubation, Unsteady gait, Cerebellar atrophy |
OMIM:619405 |
3-Methylglutaconic Aciduria Type 1 |
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Failure to thrive, Progressive cerebellar ataxia, Seizure, Spastic tetraparesis, Dystonia |
ORPHA:67046 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
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Torticollis, Ataxia, Cerebellar vermis atrophy, Babinski sign, Dilated fourth ventricle, Frequent... |
OMIM:619054 |
Epilepsy, Familial Adult Myoclonic, 1 |
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EEG with photoparoxysmal response, Generalized myoclonic seizure, Jerk-locked premyoclonus spikes... |
OMIM:601068 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
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Ataxia, Seizure |
ORPHA:404493 |
Polyendocrine-Polyneuropathy Syndrome |
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Cerebellar hypoplasia, Ataxia, Dystonia |
OMIM:616113 |
Huntington Disease-Like 2 |
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