| Myoclonic Epilepsy, Progressive |
|
Generalized myoclonic seizure |
OMIM:310370 |
| Myoclonic Epilepsy, Hartung Type |
|
Generalized myoclonic seizure |
OMIM:159600 |
| Mental Retardation, X-Linked 89 |
|
Generalized myoclonic seizure |
OMIM:300848 |
| Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... |
OMIM:607628 |
| Epilepsy, Familial Temporal Lobe, 7 |
|
Focal sensory seizure with auditory features |
OMIM:616436 |
| Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:617924 |
| Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
| Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... |
OMIM:607631 |
| Epilepsy, Idiopathic Generalized |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... |
OMIM:600669 |
| Epilepsy, Juvenile Myoclonic, Susceptibility To, 9 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:614280 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... |
OMIM:616172 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... |
OMIM:616685 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... |
OMIM:604233 |
| Epilepsy, Familial Temporal Lobe, 8 |
|
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... |
OMIM:616461 |
| Developmental And Epileptic Encephalopathy 9 |
|
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... |
OMIM:300088 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... |
OMIM:604403 |
| Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Morn... |
OMIM:254770 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... |
OMIM:613060 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... |
OMIM:613863 |
| Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Morning myo... |
OMIM:607682 |
| Febrile Seizures, Familial, 9 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:611634 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:618482 |
| Epilepsy, Familial Temporal Lobe, 4 |
|
Focal sensory seizure with visual features, Focal aware seizure, Focal impaired awareness seizure |
OMIM:611631 |
| Developmental And Epileptic Encephalopathy 19 |
|
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Focal hemiclonic s... |
OMIM:615744 |
| Neuropathy, Hereditary Sensory, Atypical |
|
Sensory ataxia, Babinski sign, Ataxia |
OMIM:256860 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... |
OMIM:600512 |
| Seizures, Benign Familial Infantile, 2 |
|
Focal-onset seizure, Generalized-onset seizure |
OMIM:605751 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Myoclonic seizure, Myoclonic absence seizure, Atypical absence seizure |
OMIM:618596 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Gait ataxia, Truncal ataxia, EEG with spike-wave complexes, Chorea, Abnormal cerebral whi... |
OMIM:618587 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... |
OMIM:618357 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
| Megalencephaly With Dysmyelination |
|
EEG with photoparoxysmal response, Abnormal cerebral white matter morphology, Megalencephaly, Ata... |
OMIM:249240 |
| Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Focal se... |
ORPHA:139426 |
| Continuous Spikes And Waves During Sleep |
|
Dystonia, Clumsiness, Speech apraxia, Atonic seizure, Interictal epileptiform activity, Focal hem... |
ORPHA:725 |
| Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Abasia, Ataxia |
OMIM:209100 |
| Spinocerebellar Ataxia Type 4 |
|
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired prop... |
ORPHA:98765 |
| Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:609446 |
| Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:600131 |
| Febrile Seizures, Familial, 8 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:607681 |
| Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Visually-induced seizure, Atonic s... |
OMIM:615369 |
| Developmental And Epileptic Encephalopathy 57 |
|
Seizure, Generalized myoclonic seizure, Atypical absence seizure |
OMIM:617771 |
| Dravet Syndrome |
|
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Cerebral atrophy, Abnormal ... |
OMIM:607208 |
| Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
| Developmental And Epileptic Encephalopathy 26 |
|
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic... |
OMIM:616056 |
| Juvenile Myoclonic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... |
ORPHA:307 |
| Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
ORPHA:1941 |
| Benign Familial Infantile Epilepsy |
|
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Bilateral tonic-cloni... |
ORPHA:306 |
| Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
| Episodic Ataxia Type 5 |
|
Truncal ataxia, Ataxia |
ORPHA:211067 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Tremor, Incoordination, EEG with spike-wave complexes, Generalized cerebral atrophy/hypoplasia, F... |
ORPHA:36387 |
| Developmental And Epileptic Encephalopathy 6B |
|
Inability to walk, Dystonia, EEG with spike-wave complexes (>3.5 Hz), Hypoplastic hippocampus, Ch... |
OMIM:619317 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... |
OMIM:614417 |
| Tapetoretinal Degeneration With Ataxia |
|
Ataxia |
OMIM:272600 |
| Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, Speech apraxia, Focal myoclonic seizure, Bilateral tonic-clonic seizu... |
ORPHA:98818 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... |
ORPHA:101039 |
| Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Seizure, Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-cloni... |
OMIM:615400 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Torsion dystonia, Dystonia, Paresthesia, Chorea, Paroxysmal dyskinesia, Ataxia, Seizure, Generali... |
ORPHA:98811 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with spike-wave complexes, Ataxia, Interictal epileptiform activity, EEG with polyspike wave ... |
OMIM:254800 |
| Myoclonic-Atonic Epilepsy |
|
Generalized non-motor (absence) seizure, Eyelid myoclonus |
OMIM:616421 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Abnormal corpus callosum morphology, Cortical dysplasia, Stereotypy, Microcephaly, Hydroc... |
OMIM:618709 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Difficulty walking, Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seiz... |
OMIM:614018 |
| Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia |
OMIM:613227 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... |
OMIM:614373 |
| Lennox-Gastaut Syndrome |
|
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, E... |
ORPHA:2382 |
| Dravet Syndrome |
|
Poor fine motor coordination, Photosensitive myoclonic seizure, Interictal epileptiform activity,... |
ORPHA:33069 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Inability to walk, Tremor, Clumsiness, Difficulty walking, Atonic seizure, Eyelid myoclonus, Abno... |
ORPHA:2590 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Tremor, Myoclonic absence seizure, Ataxia, Bradykinesia, Bilateral tonic-clonic seizure... |
OMIM:617836 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification, Limb ataxia, Hypertonia, Bradykinesia, Basal ganglia calcification, Parki... |
OMIM:618824 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
EEG with spike-wave complexes (>3.5 Hz), Chorea, Paroxysmal dyskinesia, Bilateral tonic-clonic se... |
ORPHA:79137 |
| Epilepsy, Familial Temporal Lobe, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Status epilepticus, Focal impaired... |
OMIM:615697 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormality of thalamus morphology, Head tremor, Torticollis, Abnormal motor neuron morphology, L... |
OMIM:613724 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Difficulty walking, Ataxia, Generalized non-motor (absence) seizure, Babinski sign, Leukoencephal... |
OMIM:618242 |
| Lissencephaly 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Pachygyria, Atonic seizure, Bilate... |
OMIM:618873 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-on... |
ORPHA:178469 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Seizure, Atonic seizure, Generalized non-motor (absence) seizure |
OMIM:610293 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Dystonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Interictal epileptiform activity, ... |
OMIM:619157 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... |
ORPHA:98807 |
| Myoclonic Epilepsy Of Infancy |
|
Hemiplegia, Febrile seizure (within the age range of 3 months to 6 years), Poor motor coordinatio... |
ORPHA:86909 |
| Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Hypsarrhythmia, Spastic diplegia, Stereotypy, Secondary microcephaly, Optic at... |
OMIM:617830 |
| Myoclonus, Familial, 1 |
|
Frequent falls, Falls, Myoclonus, Ataxia |
OMIM:614937 |
| Developmental And Epileptic Encephalopathy 52 |
|
Febrile seizure (within the age range of 3 months to 6 years), Atypical absence seizure, Focal he... |
OMIM:617350 |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:611364 |
| N-Acetylaspartate Deficiency |
|
Decreased body weight, Unsteady gait, Truncal ataxia, Stereotypy |
OMIM:614063 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617787 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Stereotypy, Progres... |
OMIM:617862 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus, Apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral c... |
OMIM:618193 |
| Bilateral Generalized Polymicrogyria |
|
Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-on... |
ORPHA:208447 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, Hypsarrhythmia, EEG with focal epileptiform discharges, Chorea, Hypoplasia of the corpu... |
ORPHA:88616 |
| Autosomal Spastic Paraplegia Type 30 |
|
Progressive spastic paraplegia, Ataxia, Somatic sensory dysfunction, Lower limb spasticity, Unste... |
ORPHA:101010 |
| Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
| Developmental And Epileptic Encephalopathy 67 |
|
Hypsarrhythmia, Gait disturbance, Seizure, Generalized non-motor (absence) seizure, EEG abnormali... |
OMIM:618141 |
| Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor, Broad-based gait |
ORPHA:94122 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Inability to walk, Dystonia, Abnormality of the basal ganglia, Decreased thalamic volume, Spastic... |
OMIM:618646 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Stereotypy, Hyperactivity |
OMIM:300271 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... |
ORPHA:251282 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
| Febrile Seizures, Familial, 4 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... |
OMIM:604352 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... |
OMIM:602477 |
| Febrile Seizures, Familial, 1 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... |
OMIM:121210 |
| Febrile Seizures, Familial, 5 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... |
OMIM:609255 |
| Febrile Seizures, Familial, 6 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... |
OMIM:609253 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Spastic parapare... |
ORPHA:397725 |
| Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Upper limb spasticity, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morpholo... |
ORPHA:485350 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Stereotypy |
OMIM:606053 |
| Spinocerebellar Ataxia Type 23 |
|
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Bab... |
ORPHA:101108 |
| Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
| Myoclonic-Astatic Epilepsy |
|
Tremor, Atonic seizure, Focal-onset seizure, Abnormal pyramidal sign, Ataxia, Interictal epilepti... |
ORPHA:1942 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hypsarrhythmia, Secondary microcephaly, Ataxia, Status epilepticus, Generalized non-motor (absenc... |
OMIM:300912 |
| Cerebellar Ataxia And Albinism |
|
Head tremor, Ataxia |
OMIM:258300 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... |
OMIM:614561 |
| Hyperprolinemia, Type I |
|
Stereotypy, EEG abnormality, Ataxia, Hyperactivity |
OMIM:239500 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... |
OMIM:602433 |
| Developmental And Epileptic Encephalopathy 18 |
|
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure |
OMIM:615476 |
| Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... |
OMIM:608096 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, EEG abnormality, Falls, Stere... |
OMIM:619150 |
| Neuroferritinopathy |
|
Dystonia, T2 hypointense thalamus, Palatal myoclonus, Chorea, Resting tremor, Writer's cramp, Iro... |
ORPHA:157846 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hypoplasia of the corpus callosum, Cerebral atrophy, Spastic tetraplegia, Babi... |
OMIM:616657 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... |
ORPHA:98769 |
| Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia |
OMIM:616410 |
| Hydroxylysinuria |
|
Generalized myoclonic seizure |
OMIM:236900 |
| Spinocerebellar Ataxia 45 |
|
Limb ataxia, Gait ataxia, Ataxia |
OMIM:617769 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperkinetic movements, Ataxia, Bilateral tonic-clonic seizure, Status epilepticus, Generalized n... |
OMIM:271980 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Bilateral Frontoparietal Polymicrogyria |
|
Atonic seizure, Abnormal pyramidal sign, Cerebral dysmyelination, Seizure, Bilateral tonic-clonic... |
ORPHA:101070 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Atonic seizure, Myoclonic seizure, Periventricular white matter hyperdensities, Hyperactivity, Sp... |
ORPHA:168491 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Generalized tonic seizure, Occipital cortical atrophy, Hypsarrhythmia, Hypopla... |
ORPHA:411986 |
| Deafness, Congenital, And Familial Myoclonic Epilepsy |
|
Myoclonus, Generalized myoclonic seizure |
OMIM:220300 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Unsteady gait, Tremor, Ataxia |
OMIM:615945 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Facial palsy, Abnormal lower motor neuron morphology |
OMIM:607641 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Thick cerebral cortex, Hypsarrhythmia, Hypoplasia of the corpus callosum, Hypertonia, Infantile s... |
OMIM:618677 |
| Baker-Gordon Syndrome |
|
Inability to walk, Dystonia, Hyperkinetic movements, Ataxia, EEG abnormality, Stereotypy, Involun... |
OMIM:618218 |
| Ravine Syndrome |
|
Abnormality of the basal ganglia, Abnormal auditory evoked potentials, Ataxia, Spasticity |
ORPHA:99852 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Dystonia, Chorea, Hypoplasia of the corpus callosum, EEG abnormality, Stereoty... |
OMIM:618760 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized non-motor (absence) seizure, Generalized-onset seizure |
ORPHA:35878 |
| Carnosinemia |
|
Generalized myoclonic seizure |
OMIM:212200 |
| Autism |
|
EEG abnormality, Stereotypy |
OMIM:209850 |
| Autism, Susceptibility To, X-Linked 3 |
|
EEG abnormality, Stereotypy |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 2 |
|
EEG abnormality, Stereotypy |
OMIM:300495 |
| Autism, Susceptibility To, 8 |
|
EEG abnormality, Stereotypy |
OMIM:607373 |
| Autism, Susceptibility To, X-Linked 1 |
|
EEG abnormality, Stereotypy |
OMIM:300425 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
EEG abnormality, Stereotypy |
OMIM:608636 |
| Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears, Stereotypy, Hyperactivity, Microce... |
OMIM:609425 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Dystonia, Type II lissencephaly, Spastic diplegia, Torticollis, Sensorineural hearing impairment,... |
ORPHA:300570 |
| Pyridoxine-Dependent Epilepsy |
|
Hypsarrhythmia, Hypoplasia of the corpus callosum, Atonic seizure, EEG with burst suppression, Fo... |
ORPHA:3006 |
| Polymicrogyria, Bilateral Temporooccipital |
|
Seizure, Status epilepticus, Focal impaired awareness seizure |
OMIM:612691 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Generalized non-motor (absence) seizure, Complex febrile seizure, Focal motor seizure, Bilateral ... |
OMIM:619338 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor |
OMIM:608687 |
| Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... |
OMIM:614418 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
| Mental Retardation, Autosomal Recessive 39 |
|
Anteverted ears, Macrotia, Stereotypy, Hyperactivity, Microcephaly |
OMIM:615541 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Difficulty walking, Cerebral atrophy, Stereotypy, Microcephaly, Spasticity |
OMIM:617393 |
| Smith-Magenis syndrome |
|
Stereotypy, Hyperactivity |
DECIPHER:8 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria |
OMIM:617917 |
| Seizures, Benign Familial Infantile, 1 |
|
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... |
OMIM:601764 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Inability to walk, Tremor, Low-set ears, EEG abnormality, Stereotypy, Hyperactivity, Microcephaly... |
OMIM:618718 |
| Myoclonic Epilepsy, Familial Infantile |
|
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... |
OMIM:605021 |
| Spinocerebellar Ataxia 29 |
|
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... |
OMIM:117360 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Generalized non-motor (absence) seizure |
OMIM:300801 |
| Fraxe Intellectual Disability |
|
Clumsiness, Prominent ear helix, Recurrent hand flapping, Hyperactivity, Stereotypical body rocking |
ORPHA:100973 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Hypoplasia of the corpus callosum, Abnormality of the pinna, Ataxia, Cerebral cortical at... |
OMIM:300983 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Lower limb spasticity, Dysmetria,... |
OMIM:616948 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Tremor, Eating-induced seizure, Gait disturbance, Poor coordination, Myoclonic absence seizure, A... |
ORPHA:544254 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
| Isolated Focal Cortical Dysplasia |
|
Nocturnal seizures, Thick cerebral cortex, Focal-onset seizure, Hemiparesis, Seizure, Infantile s... |
ORPHA:65683 |
| Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis |
OMIM:617839 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Spinocerebellar Ataxia 40 |
|
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... |
OMIM:616053 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks |
ORPHA:308 |
| Spinocerebellar Ataxia Type 40 |
|
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... |
ORPHA:423275 |
| L-Ferritin Deficiency |
|
Generalized-onset seizure |
OMIM:615604 |
| Rolandic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal hemifacial clonic seizure, P... |
ORPHA:1945 |
| Mohr-Tranebjaerg Syndrome |
|
Dystonia, Sensorineural hearing impairment, Generalized dystonia, Abnormality of somatosensory ev... |
ORPHA:52368 |
| Spinocerebellar Ataxia Type 35 |
|
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... |
ORPHA:276193 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense basal ganglia lesion, Clumsiness, Interictal EEG abnormality, Focal T2 hype... |
ORPHA:79264 |
| Lichtenstein-Knorr Syndrome |
|
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria |
OMIM:616291 |
| Unilateral Focal Polymicrogyria |
|
EEG with parietal focal spikes, EEG with frontal focal spikes, EEG with temporal focal spikes, EE... |
ORPHA:268947 |
| Familial Focal Epilepsy With Variable Foci |
|
Interictal EEG abnormality, Paresthesia, Hypsarrhythmia, EEG with focal epileptiform discharges, ... |
ORPHA:98820 |
| Lissencephaly Due To Lis1 Mutation |
|
Hypsarrhythmia, Atonic seizure, Progressive spastic quadriplegia, Agyria, Tetraplegia, Cavum sept... |
ORPHA:95232 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic absence seizure, Bilateral tonic-clonic seizure, EEG with polyspike wave complexes, Myo... |
OMIM:619000 |
| Benign Occipital Epilepsy |
|
Focal impaired awareness seizure |
ORPHA:25968 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Cerebral atrophy, Hearing impairment, Myoclonus, Optic atr... |
OMIM:619057 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea, Abnormal head movements |
OMIM:616939 |
| Spinocerebellar Ataxia 35 |
|
Incoordination, Difficulty walking, Ataxia, Torticollis, Dysmetria, Intention tremor, Babinski sign |
OMIM:613908 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Hypertonia, Progressive extrapyramidal movement disorder, Myoclonus, Ataxia |
OMIM:612736 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Tremor, Gait ataxia, Impaired tactile sensation, Overfolded helix, Hypertonia, Ataxia, Low-set ea... |
OMIM:619092 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Generalized myoclonic seizure |
ORPHA:79156 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Cerebral atrophy, Ataxia, Myoclonus, Hyp... |
OMIM:615924 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... |
ORPHA:284332 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Pachygyria, Hypoplasia of the corpus callosum, Hypertonia, Spastic tetraparesis, Hemiparesis, Abn... |
OMIM:604317 |
| Japanese Encephalitis |
|
Pill-rolling tremor, Dystonia, Abnormality of the internal capsule, Abnormality of extrapyramidal... |
ORPHA:79139 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... |
ORPHA:363710 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Somatic sensory dysfunction, Lower ... |
ORPHA:320401 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebral atrophy, Ataxia, Seizure, EEG abnormality, Myoclonus |
OMIM:600143 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
| Rasmussen Subacute Encephalitis |
|
Generalized convulsive status epilepticus, Interictal epileptiform activity, Bilateral tonic-clon... |
ORPHA:1929 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Focal-onset seizure, Myoclonus, Generalized-onset seizure |
ORPHA:86814 |
| Mental Retardation, Autosomal Recessive 58 |
|
Choreoathetosis, Spastic diplegia, Stereotypy |
OMIM:617270 |
| Developmental And Epileptic Encephalopathy 92 |
|
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, Seizure, EEG abnormality, Myoc... |
OMIM:617829 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Dysmetria, Hypera... |
OMIM:618090 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... |
OMIM:611302 |
| Cln5 Disease |
|
Clumsiness, Cerebral cortical atrophy, Focal myoclonic seizure, Periventricular white matter hype... |
ORPHA:228360 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Eyelid myoclonus, Cerebral atrophy, Ataxia, Generalized non-motor (absence) seizure, Secondary mi... |
OMIM:613839 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal autonomic seizure, Bilateral tonic-clo... |
ORPHA:101046 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hypoplasia of the corpus callosum, Ataxia, Simplified gyral pattern, Hyperactivity, Microcephaly,... |
OMIM:613402 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Hypoplasia of the corpus callosum, Hypertonia, Secondary microcephaly, Polymicrogyria, Cortical d... |
OMIM:615282 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity |
OMIM:168100 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
EEG with focal epileptiform discharges, Atypical absence seizure, Bilateral tonic-clonic seizure,... |
ORPHA:98795 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Inability to walk, Macrotia, Difficulty walking, Limb ataxia, Hypoplasia of the corpus callosum, ... |
OMIM:617695 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Myoclonus, Ataxia |
OMIM:616366 |
| Lafora Disease |
|
Inability to walk, Hypsarrhythmia, Erratic myoclonus, Atonic seizure, Gait disturbance, Focal-ons... |
ORPHA:501 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Inability to walk, T2 hypointense thalamus, Gait ataxia, Clumsiness, Cerebral atrophy, Ataxia, Un... |
ORPHA:1947 |
| Atypical Rett Syndrome |
|
Inability to walk, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Dystonia, Gait disturbance,... |
ORPHA:3095 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis |
OMIM:618425 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Torticollis, Ataxia |
ORPHA:71518 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Unsteady gait, Tremor, Truncal ataxia, Dysmetria |
OMIM:616127 |
| Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Hypsarrhythmia, Cerebral atrophy, Cerebral white matter hypoplasia, Stereotypical hand wringing, ... |
ORPHA:500545 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, Tremor, Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic parapares... |
ORPHA:206443 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Dystonia, Chorea, Gait disturbance, Craniofacial dystonia, Ataxia, Myoclonus, Involuntary movemen... |
OMIM:617282 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Hyperactivity |
OMIM:617113 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Lethargy, Hemiparesis, Ataxia, Paralysis, Seizure, EEG abnormality, Myoclonu... |
OMIM:606777 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... |
ORPHA:98762 |
| 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 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... |
ORPHA:240103 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Abnormal cerebral white matter morphology, Absent brainstem auditory responses, Sensorineural hea... |
OMIM:617519 |
| Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormality of thalamus morphology, Cerebral white matter atrophy, Ataxia, Abnormality of the out... |
ORPHA:435638 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations |
OMIM:613728 |
| Liang-Wang Syndrome |
|
Dystonia, Cerebral atrophy, Ataxia, Status epilepticus, Generalized non-motor (absence) seizure |
OMIM:618729 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Gait disturbance, Choreoathetosis, Spastic paraparesis, Ataxia |
ORPHA:67047 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Spasticity |
OMIM:615493 |
| New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, EEG with temporal epileptiform discharges, Myoclonic seizure, Focal a... |
ORPHA:363558 |
| Seizures, Benign Familial Infantile, 3 |
|
Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal ... |
OMIM:607745 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... |
ORPHA:382 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Dystonia, Gait ataxia, Febrile seizure (within the age range of 3 months to 6 ... |
OMIM:618917 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Agenesis of corpus callosum, Fusion of the left and right thalami, Abnormality of the anterior co... |
OMIM:617542 |
| Developmental And Epileptic Encephalopathy 30 |
|
Hypsarrhythmia, Bilateral tonic-clonic seizure, Seizure, Stereotypy, Generalized myoclonic seizure |
OMIM:616341 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia |
ORPHA:228169 |
| Leigh Syndrome With Cardiomyopathy |
|
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Dystonia, Basal ganglia g... |
ORPHA:70474 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Dystonia, Abnormal periventricular white matter morphology, Difficulty walking, Hypoplasia of the... |
ORPHA:280763 |
| Huntington Disease-Like 1 |
|
Gait ataxia, Clumsiness, Incoordination, Chorea, Slurred speech, Poor fine motor coordination, Ga... |
ORPHA:157941 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, EEG abnormality, Hyperactivity |
ORPHA:436151 |
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Clumsiness, Cerebral atrophy, Bilateral tonic-clonic seizure, EEG abnormality, Focal impaired awa... |
OMIM:610003 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... |
OMIM:125250 |
| Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis |
OMIM:612577 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Spasticity |
ORPHA:356996 |
| Infantile Convulsions And Choreoathetosis |
|
Dystonia, Complex febrile seizure, Experiential epileptic aura, Chorea, Paroxysmal dyskinesia, Fo... |
ORPHA:31709 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Acute Disseminated Encephalomyelitis |
|
Diffuse white matter abnormalities, Diaphragmatic paralysis, Interictal EEG abnormality, Abnormal... |
ORPHA:83597 |
| Aceruloplasminemia |
|
Tremor, Gait ataxia, Dystonia, Akinesia, Abnormal corpus striatum morphology, Chorea, Limb ataxia... |
ORPHA:48818 |
| Mental Retardation, Autosomal Recessive 47 |
|
Focal impaired awareness seizure |
OMIM:616193 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Inability to walk, Spastic paraparesis, Difficulty walking, Hypoplasia of the corpus callosum, Ab... |
ORPHA:254930 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Abnormality of extrapyramidal motor function, EEG with continuous slow activity, Gait disturbance... |
ORPHA:275864 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... |
ORPHA:101110 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Gait ataxia, Clumsiness, Ataxia, Dysmetria, Intention tremor, Spasticity |
OMIM:608029 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lethargy, Abnormal periventricular white matter morphology, Spastic paraparesis, Focal-onset seiz... |
ORPHA:395 |
| Tay-Sachs Disease |
|
Inability to walk, Tremor, Incoordination, Clumsiness, Dystonia, Hypointensity of cerebral white ... |
ORPHA:845 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Focal-onset seizure, Paroxysmal choreoathetosis, Normal interictal EEG, Gene... |
OMIM:602066 |
| Episodic Ataxia Type 4 |
|
Abnormal head movements, Frequent falls, Incoordination, Ataxia |
ORPHA:79136 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Dysmetria, Truncal ataxia, Ataxia |
OMIM:617584 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Tremor, Clumsiness, Interictal EEG abnormality, Chorea, Poor fine motor coordination, C... |
ORPHA:79263 |
| Foxg1 Syndrome |
|
Inability to walk, Dystonia, Pachygyria, Difficulty walking, Hypoplasia of the corpus callosum, H... |
ORPHA:561854 |
| Early Infantile Epileptic Encephalopathy |
|
Dystonia, Hypsarrhythmia, Atonic seizure, Hyperactivity, Spasticity, Generalized clonic seizure, ... |
ORPHA:1934 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Dystonia, Gait ataxia, Abnormality of extrapyramidal motor function, Chorea, H... |
ORPHA:500180 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Mental Retardation, Autosomal Dominant 7 |
|
Thickened helices, Incoordination, Macrotia, Gait disturbance, Abnormality of the pinna, Ataxia, ... |
OMIM:614104 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Stereotypical hand wringing, Hyperkinetic movements, Progressive microcephaly, Macrotia |
ORPHA:397933 |
| Kohlschutter-Tonz Syndrome-Like |
|
Hypsarrhythmia, Focal myoclonic seizure, Spasticity, Generalized clonic seizure, Upper limb spast... |
OMIM:619229 |
| Developmental And Epileptic Encephalopathy 12 |
|
Focal-onset seizure, Generalized-onset seizure |
OMIM:613722 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity |
OMIM:213200 |
| Spermatogenic Failure 5 |
|
Male infertility, Functional abnormality of male internal genitalia |
OMIM:243060 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Sensorineural hearing impairment, Abnorm... |
ORPHA:99027 |
| Adult Krabbe Disease |
|
Hemiplegia, Hoffmann sign, Clumsiness, Prolonged brainstem auditory evoked potentials, Impaired t... |
ORPHA:206448 |
| Optic Atrophy 11 |
|
Facial diplegia, Macrotia, Hyperkinetic movements, Ataxia, Hearing impairment, Dysmetria, Hyperac... |
OMIM:617302 |
| Huntington Disease-Like 3 |
|
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... |
ORPHA:157946 |
| Juvenile Huntington Disease |
|
Dystonia, Gait ataxia, Chorea, Abnormal cerebral white matter morphology, Ataxia, Bradykinesia, N... |
ORPHA:248111 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, EEG with frontal sharp slow waves, Hypsarrhythmia, Hypoplasia of the corpus ca... |
ORPHA:457351 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Dis... |
OMIM:601382 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... |
ORPHA:284324 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Ataxia, EEG abnormality, Cortical dysplasia, Stereotypy, Hyperactivity, Focal cortical dysplasia,... |
OMIM:610042 |
| Christianson Syndrome |
|
Dystonia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of the corpus callosum, Macrotia, Cereb... |
ORPHA:85278 |
| Childhood Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Punding, Myoclonic absence seizure... |
ORPHA:64280 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Dystonia, Tremor, Difficulty walking, Focal-onset seizure, Bilateral tonic-clo... |
ORPHA:330050 |
| Auditory Neuropathy, Autosomal Dominant, 1 |
|
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... |
OMIM:609129 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Positive Romberg sign, Gait ataxia, Vestibular dysfunction, Impaired vibratory sensation, Abnorma... |
ORPHA:70595 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Unsteady gait... |
OMIM:617633 |
| Mental Retardation, Autosomal Recessive 3 |
|
Progressive microcephaly, Hyperactivity |
OMIM:608443 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Low-set, posteriorly rotated ears, Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ank... |
OMIM:618598 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Dystonia, Gait disturbance, Cerebral cortical atrophy, Myoclonus, Babinski sign, Stereotypy, Rigi... |
OMIM:600795 |
| Urocanic Aciduria |
|
Gait ataxia, Truncal ataxia, Action tremor, Ataxia, Broad-based gait |
ORPHA:210128 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tremor, Difficulty walking, Degeneration of anterior horn cells, Seizure, Tongue fasciculations, ... |
OMIM:159950 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hypertonia, Low-set ears, Stereotypy, Hyperactivity, Microcephaly, Repetitive compulsive behavior... |
ORPHA:352490 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
| Harel-Yoon Syndrome |
|
Inability to walk, Generalized non-motor (absence) seizure, Ataxia, Spasticity |
OMIM:617183 |
| Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Macrotia, Hypoplasia of the corpus callosum, Stereotypy, Progress... |
DECIPHER:45 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait |
ORPHA:284271 |
| Cdkl5-Deficiency Disorder |
|
Difficulty walking, Gait disturbance, Multifocal epileptiform discharges, Impaired pain sensation... |
ORPHA:505652 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormality of thalamus morphology, Gait disturbance, Hypertonia, Spastic tetraplegia, Abnormal p... |
ORPHA:88619 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Difficulty walking, Ataxia, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder |
OMIM:619191 |
| Cach Syndrome |
|
T2 hypointense thalamus, Truncal ataxia, Limb ataxia, Cerebral atrophy, Spastic diplegia, Hemipar... |
ORPHA:135 |
| Mental Retardation, Autosomal Recessive 57 |
|
Inability to walk, Febrile seizure (within the age range of 3 months to 6 years), Focal-onset sei... |
OMIM:617188 |
| Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Attention deficit hyperactivity disorder, Stereotypy, Speech apraxia |
OMIM:613670 |
| Myoclonic Epilepsy Of Lafora |
|
Apraxia, Gait disturbance, Bilateral tonic-clonic seizure, Lafora bodies, Generalized non-motor (... |
OMIM:254780 |
| Mental Retardation, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617600 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Sensorineural hearing impairment, Focal T2 hyperintense thalamic lesion, Ataxia |
OMIM:619046 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Cerebral white matter atrophy, Focal emotional seizure with laughing, Hypoplasia of the corpus ca... |
ORPHA:79351 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Tremor, Dystonia, Oculomotor apraxia, Ataxia, Hyperactivity, Microcephaly, Choreoathetosis, Spast... |
OMIM:612716 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Hypertonia, Cerebral atrophy, Hyperactivity, Tetraplegia, Microcephaly, Optic atrophy, ... |
OMIM:274270 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Microcephaly, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:618906 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebe... |
ORPHA:247815 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Corticobasal Syndrome |
|
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... |
ORPHA:454887 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Dystonia, Gait ataxia, Difficulty walking, Abnormality of the pinna, Unsteady gait, Stereotypy, M... |
OMIM:617807 |
| Mental Retardation, Autosomal Recessive 61 |
|
Hypoplasia of the corpus callosum, Low-set ears, Posteriorly rotated ears, EEG abnormality, Babin... |
OMIM:617773 |
| Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Fusion of the left and right thalami, Aganglionic megacolon, A... |
ORPHA:59315 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Babi... |
OMIM:609270 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Fasciculations, Rigidity, Spasticity |
OMIM:183050 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Hypoplasia of the corpus callosum, Low-set ears, Cerebral cortical atrophy, Decreased thalamic vo... |
OMIM:619072 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Stereotypy, Macrotia |
OMIM:618504 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... |
OMIM:205100 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Macrotia, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Stereotypy, Mi... |
ORPHA:457240 |
| Spermatogenic Failure 46 |
|
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... |
OMIM:619095 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Inability to walk, Positive Romberg sign, Impaired pain sensation, Gait ataxia, Impaired vibrator... |
ORPHA:101085 |
| Leigh Syndrome |
|
Dystonia, Abnormality of extrapyramidal motor function, Hypsarrhythmia, Diffuse spongiform leukoe... |
ORPHA:506 |
| Lamb-Shaffer Syndrome |
|
Ataxia, Stereotypy, Hyperactivity, Microcephaly, Optic atrophy, Upper motor neuron dysfunction |
ORPHA:530983 |
| Benign Familial Neonatal Epilepsy |
|
Focal EEG discharges with secondary generalization, Generalized tonic seizure, Focal-onset seizur... |
ORPHA:1949 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Babinski sign, Stereotypy, Spasticity |
OMIM:612069 |
| Snijders Blok-Campeau Syndrome |
|
Speech apraxia, Low-set ears, Unsteady gait, Stereotypy, Broad-based gait |
OMIM:618205 |
| Mental Retardation, Autosomal Dominant 33 |
|
Microcephaly, Hyperactivity |
OMIM:616311 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Oculomotor apraxia, Ataxia, Jerky head movements, Choreoathetosis |
OMIM:245348 |
| Insulin-Like Growth Factor I Deficiency |
|
Microcephaly, Sensorineural hearing impairment, Hyperactivity |
OMIM:608747 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Choreoathetosis, Dystonia, Spastic paraparesis, Cerebr... |
OMIM:608804 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Inability to walk, Progressive spasticity, Pain insensitivity, Chorea, Ataxia, Status epilepticus... |
OMIM:300260 |
| Angelman Syndrome |
|
Inability to walk, Tremor, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizur... |
ORPHA:72 |
| Spinocerebellar Ataxia 48 |
|
Dystonia, Gait ataxia, Tremor, Chorea, Ataxia, Parkinsonism, Cachexia, Dysmetria, Babinski sign |
OMIM:618093 |
| Familial Infantile Myoclonic Epilepsy |
|
Clumsiness, Interictal EEG abnormality, Thick cerebral cortex, Focal-onset seizure, Gait disturba... |
ORPHA:352582 |
| Spinocerebellar Ataxia Type 10 |
|
Dysdiadochokinesis, Kinetic tremor, Gait ataxia, Generalized-onset seizure, Status epilepticus, P... |
ORPHA:98761 |
| Spermatogenic Failure 43 |
|
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... |
OMIM:619094 |
| Hydranencephaly |
|
Dysgenesis of the thalamus, Infantile sensorineural hearing impairment, Lethargy, Abnormal corpus... |
ORPHA:2177 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... |
OMIM:301059 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
| Mental Retardation, Autosomal Dominant 40 |
|
Gait ataxia, Low-set ears, Stereotypy, Impaired pain sensation, Microcephaly |
OMIM:616579 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, EEG wit... |
ORPHA:289266 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Abnormal pyramidal sign, Ataxia |
OMIM:301840 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Inability to walk, Dystonia, Abnormality of extrapyramidal motor function, Ataxia, Athetosis |
OMIM:615159 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Hypsarrhythmia, Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal intensi... |
ORPHA:485421 |
| Smith-Magenis Syndrome |
|
Morphological abnormality of the middle ear, Abnormality of the outer ear, Hearing impairment, EE... |
OMIM:182290 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Seizure, Abnormal cerebral white matter morphology, Typical absence seizure, Attention deficit hy... |
ORPHA:576283 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Chorea, Lethargy, Ataxia, Bradykinesia |
OMIM:618683 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysdiadochokinesis, Babinski sign, Intention tremor, Dysmetria, Clonus, Nonprogressive cerebellar... |
OMIM:301310 |
| Rett Syndrome |
|
Limb apraxia, Inability to walk, Dystonia, Difficulty walking, Gait disturbance, Abnormal autonom... |
ORPHA:778 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Mental Retardation, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Tremor, Hyperactivity, Hypoplasia of the corpus callosum, Secondary microcephaly, Ataxia, EEG abn... |
ORPHA:98794 |
| Spermatogenic Failure 40 |
|
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... |
OMIM:618664 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Macrotia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Stereotyp... |
ORPHA:391307 |
| Encephalopathy, Recurrent, Of Childhood |
|
Lethargy, Truncal ataxia, Incoordination, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... |
OMIM:130950 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Cerebral atrophy, EEG abnormality, Recurrent hand flapping, Macrotia |
OMIM:617268 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Diffuse white matter abnormalities, Agenesis of corpus callosum, Type II lissencephaly, Abnormal ... |
ORPHA:370959 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hypoplasia of the semicircular canal, Spastic paraparesis, Long-segment aganglionic megacolon, At... |
OMIM:609136 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Amyotrophic lateral sclerosis |
OMIM:613954 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
| Focal Cortical Dysplasia, Type Ii |
|
Hemiparesis, Cortical dysplasia, Focal impaired awareness seizure, Focal cortical dysplasia type ... |
OMIM:607341 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Tremor, Resting tremor, Lower limb spasticity, Parkinsonism, Hyperactivity, Focal EEG discharges ... |
ORPHA:3077 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Facial diplegia, Paucity of anterior horn motor neurons |
OMIM:611890 |
| Oculocerebrodental Syndrome |
|
Abnormality of thalamus morphology, Conductive hearing impairment, Dysplastic corpus callosum, He... |
ORPHA:557003 |
| Spinocerebellar Ataxia 44 |
|
Dysdiadochokinesis, Gait ataxia, Ataxia, Dysmetria, Frequent falls, Spasticity |
OMIM:617691 |
| Spinocerebellar Ataxia Type 36 |
|
Vertigo, Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Tongue fasciculati... |
ORPHA:276198 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spastic paraplegia, Macrotia, Hypertonia, Cerebral white matter hypoplasia, Ataxia, Intracerebral... |
ORPHA:168577 |
| Mental Retardation, Autosomal Recessive 41 |
|
Stereotypy |
OMIM:615637 |
| Chronic Bilirubin Encephalopathy |
|
Hypertonia, Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials, Sensorin... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypertonia, Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials, Sensorin... |
ORPHA:529799 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Multifocal seizures, Corpus callosum atrophy, Generalized myoclonic seizure, Tongue thrusting, Fo... |
ORPHA:77299 |
| Spinocerebellar Ataxia Type 19/22 |
|
Cogwheel rigidity, Truncal ataxia, Difficulty walking, Limb ataxia, Slurred speech, Poor coordina... |
ORPHA:98772 |
| Rett Syndrome, Congenital Variant |
|
Dystonia, Apraxia, Pachygyria, Chorea, Hypoplasia of the corpus callosum, Protruding ear, EEG abn... |
OMIM:613454 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Spastic paraplegia, Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sens... |
ORPHA:1215 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Perisylvian polymicrogyria, Truncal ataxia, Hypoplasia of the corpus callosum, Spastic gait, Spas... |
OMIM:619121 |
| Mental Retardation, Autosomal Dominant 48 |
|
Hypoplasia of the corpus callosum, Abnormality of the pinna, Low-set ears, Polymicrogyria, Sensor... |
OMIM:617751 |
| Spermatogenic Failure 47 |
|
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility |
OMIM:619102 |
| Coffin-Siris Syndrome 6 |
|
Tics, Low-set, posteriorly rotated ears, Conductive hearing impairment, Periventricular leukomala... |
OMIM:617808 |
| Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
| Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Stereotypy, Broad-based gait |
OMIM:301029 |
| Spinocerebellar Ataxia 34 |
|
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Intention tremor, ... |
OMIM:133190 |
| Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Cerebral atrophy, Hyperactivity |
OMIM:609924 |
| Glycine Encephalopathy |
|
Lethargy, Agenesis of corpus callosum, Myoclonus, Hyperactivity |
OMIM:605899 |
| Spermatogenic Failure 54 |
|
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... |
OMIM:619379 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, EEG with photoparoxysmal response, Blepharospasm, Ataxia, Bilateral tonic-clonic seizure,... |
OMIM:607876 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Gait disturbance, Hearing impairment, Abnormal auditory evoked potentials, Distal sensory impairm... |
OMIM:601455 |
| Deafness, Autosomal Recessive 109 |
|
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment |
OMIM:618013 |
| X-Linked Non-Syndromic Intellectual Disability |
|
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Babinski sign, ... |
ORPHA:777 |
| Spinocerebellar Ataxia Type 17 |
|
Dystonia, Chorea, Gait disturbance, Abnormal pyramidal sign, Blepharospasm, Ataxia, Writer's cram... |
ORPHA:98759 |
| Nicolaides-Baraitser Syndrome |
|
Status epilepticus, Generalized non-motor (absence) seizure, Seizure, Microcephaly, Epileptic spasm |
ORPHA:3051 |
| Potocki-Lupski Syndrome |
|
Hypoplasia of the corpus callosum, Hearing impairment, EEG abnormality, Stereotypy, Hyperactivity... |
OMIM:610883 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Interictal epileptiform activity, Stereotypy, Involuntary movements, EEG wit... |
ORPHA:98784 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:608030 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Recurrent hand flapping, Spasticity |
OMIM:618859 |
| Spermatogenic Failure 42 |
|
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... |
OMIM:618745 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Cerebral atr... |
ORPHA:363400 |
| Spermatogenic Failure 39 |
|
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... |
OMIM:618643 |
| Developmental And Epileptic Encephalopathy 87 |
|
Hypertonia, Cerebral atrophy, Recurrent hand flapping, Hypsarrhythmia |
|
