| 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 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
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 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... |
OMIM:600669 |
| 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 |
| 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 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:616685 |
| Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
| 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, Familial Temporal Lobe, 8 |
|
Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin... |
OMIM:616461 |
| 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 |
| Developmental And Epileptic Encephalopathy 9 |
|
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... |
OMIM:300088 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... |
OMIM:604403 |
| Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... |
OMIM:254770 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:613060 |
| Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset |
OMIM:611630 |
| 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 |
| Febrile Seizures, Familial, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:611634 |
| 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 |
| Epilepsy, Familial Temporal Lobe, 4 |
|
Focal sensory seizure with visual features, Focal impaired awareness seizure, Focal aware seizure |
OMIM:611631 |
| Intellectual Developmental Disorder, Autosomal Dominant 10 |
|
Seizure |
OMIM:614256 |
| Neuropathy, Hereditary Sensory, Atypical |
|
Ataxia, Babinski sign, Sensory ataxia |
OMIM:256860 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... |
OMIM:600512 |
| Seizures, Benign Familial Infantile, 2 |
|
Generalized-onset seizure, Focal-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 |
|
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure |
OMIM:618596 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... |
OMIM:618357 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
| Juvenile Absence Epilepsy |
|
Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic ... |
ORPHA:1941 |
| Perioral Myoclonia With Absences |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
ORPHA:139426 |
| Juvenile Myoclonic Epilepsy |
|
Status epilepticus, Morning myoclonic jerks, Febrile seizure (within the age range of 3 months to... |
ORPHA:307 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, EEG abnormality, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclon... |
OMIM:617831 |
| Developmental And Epileptic Encephalopathy 19 |
|
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, M... |
OMIM:615744 |
| Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:609446 |
| Atonic-Astatic Syndrome Of Foerster |
|
Abasia, Ataxia, Inability to walk |
OMIM:209100 |
| Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:600131 |
| Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:607681 |
| Developmental And Epileptic Encephalopathy 94 |
|
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Febrile seizure... |
OMIM:615369 |
| Spinocerebellar Ataxia Type 4 |
|
Ataxia, Impaired vibratory sensation, Gait disturbance, Impaired proprioception, Impaired tactile... |
ORPHA:98765 |
| Developmental And Epileptic Encephalopathy 57 |
|
Atypical absence seizure, Generalized myoclonic seizure, Seizure |
OMIM:617771 |
| Dravet Syndrome |
|
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, G... |
OMIM:607208 |
| Developmental And Epileptic Encephalopathy 26 |
|
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... |
OMIM:616056 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Atypical absence seizure, Atonic seizure, Absence seizure with eyelid myoclonia, EEG with spike-w... |
OMIM:618587 |
| Benign Familial Infantile Epilepsy |
|
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... |
ORPHA:306 |
| Continuous Spikes And Waves During Sleep |
|
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Clumsiness, Focal hemiclo... |
ORPHA:725 |
| Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
| Posterior Column Ataxia |
|
Impaired proprioception, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
| Jeavons Syndrome |
|
EEG with focal spikes, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure with gen... |
ORPHA:139431 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, EEG with spike-wave c... |
OMIM:607682 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal... |
OMIM:614417 |
| Developmental And Epileptic Encephalopathy 24 |
|
Status epilepticus, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age range of 3... |
OMIM:615871 |
| Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensory seizure... |
OMIM:615400 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Loss of ambulation, Ataxia, Atonic seizure, EEG with spike-wave complexes, Myoclonus, Tremor, Dif... |
OMIM:614018 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... |
ORPHA:101039 |
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:300388 |
| Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Status epilepticus, Ataxia, Action tremor, EEG abnormality, Focal motor seizure... |
OMIM:617665 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Bilateral to... |
OMIM:254800 |
| Landau-Kleffner Syndrome |
|
Focal impaired awareness seizure, Focal myoclonic seizure, Slurred speech, Atypical absence seizu... |
ORPHA:98818 |
| Developmental And Epileptic Encephalopathy 67 |
|
EEG abnormality, Generalized myoclonic seizure, Athetosis, Gait disturbance, Hypsarrhythmia, Gene... |
OMIM:618141 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:616421 |
| Myasthenic Syndrome, Congenital, 18 |
|
Ataxia, Difficulty walking, Fatigable weakness |
OMIM:616330 |
| Episodic Ataxia, Type 5 |
|
Typical absence seizure, Atypical absence seizure, Ataxia, EEG with spike-wave complexes, Myoclon... |
OMIM:613855 |
| Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Inability to walk, Focal hemiclonic seizure, EEG with spike-wave comple... |
OMIM:619317 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Poor fine motor coordination, EEG with ... |
ORPHA:36387 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:614373 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Generalized non-motor (absence) seizure, ... |
ORPHA:98811 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Clumsiness, Inabi... |
ORPHA:2590 |
| Epilepsy, Familial Temporal Lobe, 6 |
|
Status epilepticus, Focal impaired awareness seizure, Focal aware seizure, Bilateral tonic-clonic... |
OMIM:615697 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
EEG with spike-wave complexes (>3.5 Hz), Chorea, Bilateral tonic-clonic seizure, Generalized-onse... |
ORPHA:79137 |
| Developmental And Epileptic Encephalopathy 13 |
|
Clonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure with foca... |
OMIM:614558 |
| Developmental And Epileptic Encephalopathy 33 |
|
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Unst... |
OMIM:616409 |
| Lennox-Gastaut Syndrome |
|
Atypical absence seizure, EEG abnormality, Atonic seizure, Generalized myoclonic seizure, General... |
ORPHA:2382 |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:611364 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
EEG abnormality, Inability to walk, Atonic seizure, Dysmetria, Myoclonic seizure, Tremor, Gait at... |
OMIM:617810 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Hypertonia, Bradykinesia, Limb ataxia, Thalamic calcification, Babinski sign, Parkinsonism, Rigid... |
OMIM:618824 |
| Myoclonus, Familial, 1 |
|
Frequent falls, Myoclonus, Ataxia, Falls |
OMIM:614937 |
| Developmental And Epileptic Encephalopathy 52 |
|
Atypical absence seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Febrile seizur... |
OMIM:617350 |
| Developmental And Epileptic Encephalopathy 43 |
|
Atypical absence seizure, Ataxia, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral ... |
OMIM:617113 |
| Dravet Syndrome |
|
Focal impaired awareness seizure, Cogwheel rigidity, Photosensitive myoclonic seizure, Photosensi... |
ORPHA:33069 |
| Autosomal Spastic Paraplegia Type 30 |
|
Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dysfunction, Progressive spasti... |
ORPHA:101010 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Gait ataxia |
ORPHA:94122 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Hydrocephalus, Attention deficit hyperactivity disorder, Ataxia |
OMIM:618709 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, EEG abnormality, Bradykinesia, Generalized myoclonic seizure, Rigidity, Tremor, Bilateral... |
OMIM:617836 |
| N-Acetylaspartate Deficiency |
|
Motor stereotypy, Decreased body weight, Truncal ataxia, Unsteady gait |
OMIM:614063 |
| Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
| Lissencephaly 10 |
|
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilate... |
OMIM:618873 |
| Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
| Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
| Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
| Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
| Episodic Ataxia, Type 8 |
|
Intention tremor, Ataxia, Slurred speech, Episodic ataxia |
OMIM:616055 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
| Spinocerebellar Ataxia Type 23 |
|
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... |
ORPHA:101108 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Motor stereotypy, Broad-based gait, Hydrocephalus, Hyperactivity, Optic atrophy, Tremor, Spastic ... |
OMIM:619470 |
| Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
| Myoclonic Epilepsy Of Infancy |
|
Hemiplegia, Generalized myoclonic seizure, EEG with irregular generalized spike and wave complexe... |
ORPHA:86909 |
| Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Inability to walk, Spastic diplegia, Optic atrophy, Hypsarrhythmia |
OMIM:617830 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Inability to walk |
OMIM:606053 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume, Inability to walk, Dystonia, Spastic tetraplegia |
OMIM:618646 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Intention tremor, Abnormal motor neuron morphology, Head tremor, Abnormality of thal... |
OMIM:613724 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia |
OMIM:619561 |
| Epilepsy, Familial Temporal Lobe, 2 |
|
Focal impaired awareness seizure, Focal aware seizure, Febrile status epilepticus, Febrile seizur... |
OMIM:608096 |
| Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure, Focal-onset seizure |
OMIM:615476 |
| Developmental And Epileptic Encephalopathy 103 |
|
Ataxia, Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Continuous sp... |
OMIM:619913 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Chorea, Falls, Paroxysmal dyskinesi... |
OMIM:619150 |
| Spinocerebellar Ataxia 41 |
|
Ataxia, Unsteady gait |
OMIM:616410 |
| Spinocerebellar Ataxia 45 |
|
Ataxia, Gait ataxia, Limb ataxia |
OMIM:617769 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Jerky he... |
ORPHA:251282 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Babinski sign, Difficulty walking, Spasticity, Generalized non-motor (absence) seizure |
OMIM:618242 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Atonic seizure, Generalized non-motor (absence) seizure |
OMIM:610293 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, EEG abnormality, Hyperactivity |
OMIM:239500 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... |
OMIM:619338 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Jerky head movements, Craniofacia... |
ORPHA:98807 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal... |
OMIM:619157 |
| Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
| Hydroxylysinuria |
|
Generalized myoclonic seizure |
OMIM:236900 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology, Facial palsy |
OMIM:607641 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
| Polymicrogyria, Bilateral Temporooccipital |
|
Status epilepticus, Focal impaired awareness seizure, Seizure |
OMIM:612691 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, EEG abnormality, Inability to walk, Involuntary movements, Spasticity, Dystonia |
OMIM:617820 |
| Spinocerebellar Ataxia 35 |
|
Torticollis, Loss of ambulation, Ataxia, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
| Developmental And Epileptic Encephalopathy 99 |
|
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... |
OMIM:619606 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Ataxia, EEG abnormality, Generalized myoclonic seizure, Hyperkinetic movement... |
OMIM:271980 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Ataxia, Clumsiness, Inability to walk, T2 hypointense thalamus, EEG with generalized epileptiform... |
ORPHA:1947 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Seizures, Benign Familial Infantile, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal impaired awaren... |
OMIM:601764 |
| Developmental And Epileptic Encephalopathy 104 |
|
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... |
OMIM:619970 |
| Autism |
|
Motor stereotypy, EEG abnormality |
OMIM:209850 |
| Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy, EEG abnormality |
OMIM:300496 |
| Autism, Susceptibility To, 8 |
|
Motor stereotypy, EEG abnormality |
OMIM:607373 |
| Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy, EEG abnormality |
OMIM:300425 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, EEG abnormality |
OMIM:608636 |
| Coasy Protein-Associated Neurodegeneration |
|
Oromandibular dystonia, Spastic paraparesis, Parkinsonism, Abnormality of thalamus morphology, Di... |
ORPHA:397725 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
EEG abnormality, Myoclonus, Babinski sign, T2 hypointense thalamus, Gait disturbance, Apraxia |
OMIM:618193 |
| Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
| Myoclonic Epilepsy, Familial Infantile |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:605021 |
| Carnosinemia |
|
Generalized myoclonic seizure |
OMIM:212200 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Hyperactivity, EEG with focal epileptiform discharges, Chorea, EEG with general... |
ORPHA:88616 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:35878 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
EEG abnormality, Inability to walk, Stereotypical hand wringing, Chorea, Dystonia |
OMIM:618760 |
| Myoclonic-Astatic Epilepsy |
|
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, EEG with focal spi... |
ORPHA:1942 |
| Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure |
OMIM:612621 |
| Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, EEG abnormality, Inability to walk, Hyperkinetic movements, Choreoathet... |
OMIM:618218 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... |
OMIM:616948 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Truncal ataxia, Dysmetria |
OMIM:617584 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Unsteady ... |
OMIM:616053 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Gait atax... |
ORPHA:423275 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus |
ORPHA:308 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Inability to walk, Atonic seizure, Focal impaired awareness seizure, Generalize... |
ORPHA:411986 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizur... |
ORPHA:178469 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, EEG abnormality, Hyperactivity, Inability to walk, Tremor, Spasticity, Low-set ... |
OMIM:618718 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... |
OMIM:616515 |
| Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
| Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Hyperactivity, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears |
OMIM:609425 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
EEG with focal spikes, Focal tonic seizure, Progressive cerebellar ataxia, Focal impaired awarene... |
ORPHA:485350 |
| Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
| Ravine Syndrome |
|
Ataxia, Spasticity, Abnormal auditory evoked potentials |
ORPHA:99852 |
| L-Ferritin Deficiency |
|
Generalized-onset seizure |
OMIM:615604 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
EEG with polyspike wave complexes, Increased theta frequency activity in EEG, Myoclonic seizure, ... |
OMIM:619000 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Focal motor seizure, Generalized non-motor (absence) seizure |
OMIM:615553 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Failure to thrive, Difficulty walking, Spasticity |
OMIM:617393 |
| Neuroferritinopathy |
|
Leg dystonia, Blepharospasm, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, T2 hypoin... |
ORPHA:157846 |
| Bilateral Generalized Polymicrogyria |
|
Motor stereotypy, Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizur... |
ORPHA:208447 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity |
DECIPHER:8 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Typical absence seizure, Ataxia, Inability to walk, Spasticity, Generalized myoclonic seizure, EE... |
ORPHA:168491 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, Chorea, ... |
ORPHA:382 |
| Pyridoxine-Dependent Epilepsy |
|
Status epilepticus, Atonic seizure, Early onset absence seizures, Focal aware motor seizure, Epil... |
ORPHA:3006 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Generalized-onset seizure, Focal-onset seizure |
ORPHA:86814 |
| Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
| Rolandic Epilepsy |
|
Atypical absence seizure, Focal hemifacial clonic seizure, EEG with irregular generalized spike a... |
ORPHA:1945 |
| Benign Occipital Epilepsy |
|
Focal impaired awareness seizure |
ORPHA:25968 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Gait disturbance, Limb dysmetria, Tremor, C... |
ORPHA:363710 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:617917 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Myoclonus, Rigidity, Optic atrophy, Hearing impairment |
OMIM:619057 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
| Infantile Convulsions And Choreoathetosis |
|
Focal impaired awareness seizure, Experiential epileptic aura, Chorea, Athetosis, Complex febrile... |
ORPHA:31709 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Abnormal head movements, Chorea |
OMIM:616939 |
| Isolated Focal Cortical Dysplasia |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seiz... |
ORPHA:65683 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Generalized myoclonic seizure |
ORPHA:79156 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity, Ankle clonus, Babinski sign, Spasticity, Spastic tetraplegia |
OMIM:616657 |
| Bilateral Frontoparietal Polymicrogyria |
|
Gait imbalance, Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, A... |
ORPHA:101070 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor, Generalized-onset s... |
ORPHA:544254 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Fraxe Intellectual Disability |
|
Prominent ear helix, Clumsiness, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking |
ORPHA:100973 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Motor stereotypy, Atypical absence seizure, Ataxia, Focal impaired awareness seizure, Continuous ... |
OMIM:619428 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, EEG with persistent abnormal rhythmic activity, Ataxia, Upper motor neuron dysfunctio... |
ORPHA:206443 |
| Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense thalamic lesion, Motor stereotypy, Loss of ambulation, Clumsiness, Poor fin... |
ORPHA:79264 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... |
ORPHA:320401 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Ataxia, Dysmetria, Intention tremor, Babinski sign, Bilateral tonic-clonic seizure, Generalized n... |
OMIM:618170 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Bilater... |
ORPHA:101046 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Generalized non-motor (absence) seizure, Seizure |
OMIM:247100 |
| Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Spastic hemiparesis, Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Spastic... |
OMIM:619616 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Ataxia, Abnormal head movements |
ORPHA:71518 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Dilated third ventricle... |
OMIM:619725 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Sensorineural hearing impairment, Torticollis, Motor stereotypy, Inability to walk, Normal pressu... |
ORPHA:300570 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Abnormal pinna morphology, Ataxia, Hyperactivity, Optic atrophy, Tremor, Spasticity |
OMIM:300983 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Overfolded helix, Myoclonus, Tremor, Gai... |
OMIM:619092 |
| Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... |
OMIM:607745 |
| 3P25.3 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Motor stereotypy, Ataxia, Abnormality of thalamus morphology, A... |
ORPHA:435638 |
| Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:300497 |
| Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:300494 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:608631 |
| Japanese Encephalitis |
|
Focal T2 hyperintense thalamic lesion, Hypertonia, EEG abnormality, Paucity of anterior horn moto... |
ORPHA:79139 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears |
OMIM:619717 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis |
ORPHA:67047 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dyst... |
OMIM:615924 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity |
ORPHA:228169 |
| Episodic Ataxia Type 4 |
|
Frequent falls, Incoordination, Ataxia, Abnormal head movements |
ORPHA:79136 |
| Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia, ... |
OMIM:616341 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence)... |
OMIM:619854 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Motor stereotypy, Recurrent hand flapping, Focal impaired awareness seizure, Myoclonus, Cerebral ... |
OMIM:617600 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor |
OMIM:618425 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Hyperactivity, Dysmetria, Rigidity, Gait disturbance, Tremor |
OMIM:618090 |
| Atypical Rett Syndrome |
|
Loss of ambulation, EEG abnormality, Inability to walk, Hand apraxia, Pill-rolling tremor, Stereo... |
ORPHA:3095 |
| Developmental And Epileptic Encephalopathy 12 |
|
Generalized-onset seizure, Focal-onset seizure |
OMIM:613722 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
| New-Onset Refractory Status Epilepticus |
|
EEG with spike-wave complexes, EEG with generalized epileptiform discharges, EEG with frontal epi... |
ORPHA:363558 |
| Huntington Disease-Like 1 |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Simultanapraxia, Jerky head mo... |
ORPHA:157941 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Poor coordination, Di... |
OMIM:617695 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
| Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Focal impaired awareness seizure |
OMIM:616193 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Optic atrophy, Gait disturbance, Spasticity, Abnormal auditory evoked potentials, Progres... |
OMIM:125250 |
| Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
| Lafora Disease |
|
Status epilepticus, Erratic myoclonus, Ataxia, Inability to walk, Atypical absence seizure, Focal... |
ORPHA:501 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Broad-based gait, Gait imbalance, Atypical absence seizure, EEG abnormality, Bilateral tonic-clon... |
ORPHA:98795 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... |
ORPHA:284324 |
| Tay-Sachs Disease |
|
Clumsiness, Inability to walk, Exaggerated startle response, Laryngeal dystonia, Dysmetria, Poor ... |
ORPHA:845 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Clumsiness, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
OMIM:300558 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Poor coordination |
OMIM:309548 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Focal impaired awareness seizure, Generalized non-motor (absence) seizure |
OMIM:616521 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Motor stereotypy, Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-moto... |
OMIM:615637 |
| Urocanic Aciduria |
|
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia |
ORPHA:210128 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Focal-onset seizure, Normal interictal EEG, Generalized-onset seizure, Paroxysmal choreoathetosis |
OMIM:602066 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... |
OMIM:617633 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... |
OMIM:601382 |
| Aceruloplasminemia |
|
Torticollis, Ataxia, Akinesia, Blepharospasm, Limb ataxia, Parkinsonism, Rigidity, Chorea, Cranio... |
ORPHA:48818 |
| Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Spasticity, Hypsarrhythmia |
ORPHA:500545 |
| Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure |
OMIM:616281 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Facial diplegia, Ataxia, Inability to walk, Spastic paraparesis, Abnormal pyramidal sign, Distal ... |
ORPHA:254930 |
| Familial Focal Epilepsy With Variable Foci |
|
Focal impaired awareness seizure, Deja vu aura, Focal aware seizure, EEG with focal epileptiform ... |
ORPHA:98820 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Myoclonus, Positive Romberg sign, Gait ataxia, Abnormal thalamic MR... |
ORPHA:70595 |
| Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
| Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity |
OMIM:612577 |
| Cdkl5-Deficiency Disorder |
|
Stereotypical hand wringing, Gait disturbance, Difficulty walking, Multifocal epileptiform discha... |
ORPHA:505652 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Unsteady gait |
ORPHA:284271 |
| Leigh Syndrome With Cardiomyopathy |
|
Hypertonia, Ataxia, Chorea, Optic atrophy, Abnormality of thalamus morphology, Involuntary moveme... |
ORPHA:70474 |
| Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
| Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Babinski sign, Spastic dysarthria, Difficulty walking, Progressive spastic para... |
ORPHA:280763 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pallor of dorsal columns of t... |
OMIM:602433 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Inability to walk, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity... |
OMIM:618917 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Motor stereotypy, Abnormal pinna morphology, Ataxia, Hyperactivity, Stereotypical hand wringing, ... |
OMIM:614104 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:613839 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Motor stereotypy, Anteverted ears, Hyperactivity, Macrotia |
OMIM:615541 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Generalized non-motor (absence) seizure, Seizure |
OMIM:616033 |
| Cln5 Disease |
|
EEG with focal spikes, Ataxia, Poor gross motor coordination, Clumsiness, EEG with spike-wave com... |
ORPHA:228360 |
| Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Spastic tetraplegia |
OMIM:615282 |
| Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
| Acute Disseminated Encephalomyelitis |
|
EEG with focal spikes, Ataxia, Abnormal pyramidal sign, Hemiparesis, Somatic sensory dysfunction,... |
ORPHA:83597 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Stereotypical hand wringing, Macrotia |
ORPHA:397933 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Fusion of the left and right thalami, Hemiparesis, Unsteady gait |
OMIM:617542 |
| Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Postur... |
OMIM:609270 |
| Huntington Disease-Like 3 |
|
Broad-based gait, Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormal pyramidal... |
ORPHA:157946 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Progressive ... |
ORPHA:247815 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Hyperactivity, Myoclonus, ... |
ORPHA:248111 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Motor stereotypy, Attention deficit hyperactivity disorder, Spastic ataxia |
OMIM:618906 |
| Adult Krabbe Disease |
|
Hemiplegia, Broad-based gait, Ataxia, Clumsiness, EEG abnormality, Acroparesthesia, Hoffmann sign... |
ORPHA:206448 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Sensorineural hearing impairment, Ataxia, Focal T2 hyperintense thalamic lesion |
OMIM:619046 |
| Foxg1 Syndrome |
|
Motor stereotypy, Inability to walk, Myoclonus, Hyperkinetic movements, Stereotypical hand wringi... |
ORPHA:561854 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor, Impaired d... |
ORPHA:99027 |
| Intellectual Developmental Disorder, Autosomal Recessive 57 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Gen... |
OMIM:617188 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized myoclonic seizure, Myoclonus, Degeneration of anterior horn cells, Fasciculations, Fr... |
OMIM:159950 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, EEG abnormality, Hyperactivity |
ORPHA:436151 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Clonic seizure, Focal impaired awareness seizure, Simple febrile seizure, Bilateral tonic-clonic ... |
OMIM:617935 |
| Benign Familial Neonatal Epilepsy |
|
Status epilepticus, Generalized tonic seizure, Increased theta frequency activity in EEG, Focal c... |
ORPHA:1949 |
| Kohlschutter-Tonz Syndrome-Like |
|
Status epilepticus, Ataxia, Inability to walk, Tremor, Focal myoclonic seizure, Spasticity, Hypsa... |
OMIM:619229 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Myoclonus, Babinski sign, Rigidity, Gait disturbance, Dystonia |
OMIM:600795 |
| Liang-Wang Syndrome |
|
Status epilepticus, Ataxia, Generalized non-motor (absence) seizure |
OMIM:618729 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations |
OMIM:183050 |
| Rhombencephalosynapsis |
|
Hydrocephalus, Ataxia, Fusion of the left and right thalami, Low-set, posteriorly rotated ears, S... |
ORPHA:59315 |
| Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
| Autism, Susceptibility To, X-Linked 2 |
|
Motor stereotypy, EEG abnormality |
OMIM:300495 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Motor stereotypy, Status epilepticus, Ataxia, Inability to walk, Pain insensitivity, Tonic seizur... |
OMIM:300260 |
| Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
| Harel-Yoon Syndrome |
|
Ataxia, Inability to walk, Spasticity, Generalized non-motor (absence) seizure |
OMIM:617183 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
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EEG abnormality, Hyperactivity, Inability to walk, Abnormality of extrapyramidal motor function, ... |
ORPHA:500180 |
| Rasmussen Subacute Encephalitis |
|
Inability to walk, Focal impaired awareness seizure, Interictal epileptiform activity, EEG with f... |
ORPHA:1929 |
| Snijders Blok-Campeau Syndrome |
|
Motor stereotypy, Broad-based gait, Speech apraxia, Unsteady gait, Low-set ears |
OMIM:618205 |
| Optic Atrophy 11 |
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Facial diplegia, Ataxia, Hyperactivity, Dysmetria, Hyperkinetic movements, Optic atrophy, Macroti... |
OMIM:617302 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Impaired proprioception, I... |
ORPHA:101085 |
| Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Hemiplegia, Status epilepticus, Inability to walk, Focal impaired awareness seizure, Limb hyperto... |
OMIM:616973 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Speech apraxia, Attention deficit hyperactivity disorder |
OMIM:613670 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Hypertonia, Inability to walk, Hypsarrhythmia, Macrotia, Hearing impairment |
OMIM:619877 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
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Motor stereotypy, Abnormal pinna morphology, Optic atrophy, Difficulty walking, Gait ataxia, Spas... |
OMIM:617807 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Optic atrophy, Motor stereotypy |
OMIM:619690 |
| Lissencephaly Due To Lis1 Mutation |
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EEG with changes in voltage, Atypical absence seizure, Focal motor seizure, Atonic seizure, EEG w... |
ORPHA:95232 |
| Childhood Absence Epilepsy |
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Typical absence seizure, Jerky head movements, Limb myoclonus, EEG with spike-wave complexes (2.5... |
ORPHA:64280 |
| 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 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... |
OMIM:618598 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
| Behavioral Variant Of Frontotemporal Dementia |
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Motor stereotypy, Gait disturbance, EEG with continuous slow activity, Fasciculations, Upper moto... |
ORPHA:275864 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
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Motor stereotypy, Hypertonia, Hyperactivity, Cerebral palsy, Attention deficit hyperactivity diso... |
ORPHA:352490 |
| Familial Acute Necrotizing Encephalopathy |
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Hypertonia, Rigidity, Gait disturbance, Abnormality of thalamus morphology, Spasticity, Spastic t... |
ORPHA:88619 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
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Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity |
OMIM:612069 |
| Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, EEG with generalized slow activity g... |
ORPHA:79263 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
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Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... |
OMIM:301310 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Motor stereotypy, Ataxia, EEG abnormality, Hyperactivity, Spasticity |
OMIM:610042 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
| Spinocerebellar Ataxia Type 10 |
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Gait imbalance, Status epilepticus, Focal motor seizure, Progressive cerebellar ataxia, Focal imp... |
ORPHA:98761 |
| Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
| Xq28 (MECP2) duplication |
|
Motor stereotypy, Inability to walk, Progressive spasticity, Gait ataxia, Macrotia |
DECIPHER:45 |
| Myoclonic Epilepsy Of Lafora |
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Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Focal ... |
OMIM:254780 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
| Christianson Syndrome |
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Motor stereotypy, Truncal ataxia, Gait ataxia, Macrotia, Dystonia |
ORPHA:85278 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impairment, Tongue fascic... |
OMIM:601596 |
| Bickerstaff Brainstem Encephalitis |
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Impaired proprioception, Ataxia, EEG abnormality, Sensory ataxia, Abnormality of the autonomic ne... |
ORPHA:79138 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Decreased response to growth hormone stimulation test, Hyperkinetic movements, ... |
ORPHA:457240 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia |
OMIM:612716 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
EEG with focal spikes, Ataxia, Hyperactivity, Cerebral palsy, Stereotypical hand wringing, EEG wi... |
ORPHA:163681 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Ataxia, Spastic paraparesis, Generalized myoclonic seizure, Hemiparesis, Lower lim... |
ORPHA:395 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
| Lamb-Shaffer Syndrome |
|
Motor stereotypy, Ataxia, Hyperactivity, Optic atrophy, Upper motor neuron dysfunction |
ORPHA:530983 |
| Cach Syndrome |
|
Limb ataxia, Dysmetria, Spastic diplegia, Truncal ataxia, T2 hypointense thalamus, Hemiparesis, O... |
ORPHA:135 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Sensorineural hearing impairment, Motor stereotypy, Protruding ear, Hyperactivity, Tremor, Attent... |
OMIM:618342 |
| Leigh Syndrome |
|
Sensorineural hearing impairment, Ataxia, Spastic diplegia, Abnormality of extrapyramidal motor f... |
ORPHA:506 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Motor stereotypy, Status epilepticus, Ataxia, Atonic seizure, Recurrent hand flapping, Stereotypi... |
OMIM:300912 |
| Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity |
OMIM:617691 |
| Rett Syndrome |
|
Motor stereotypy, EEG abnormality, Bradykinesia, Inability to walk, Abnormal autonomic nervous sy... |
ORPHA:778 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Motor stereotypy, EEG abnormality, EEG with frontal sharp slow waves, Inability to walk, Generali... |
ORPHA:457351 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology |
OMIM:611890 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume, Low-set ears |
OMIM:619072 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Abnormal thalamic MRI signal intens... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Abnormal thalamic MRI signal intens... |
ORPHA:529799 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Attention deficit hyperactivity disorder, Low-set ears, Recurrent hand flapping |
OMIM:620021 |
| Hyperprolinemia Type 2 |
|
Status epilepticus, Atonic seizure, Early onset absence seizures, Distal sensory impairment, Febr... |
ORPHA:79101 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Atypical absence seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized-onset se... |
OMIM:619835 |
| Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
EEG abnormality, Hyperactivity, Dysmetria, Babinski sign, Spasticity, Hypsarrhythmia, Clonus, Uns... |
OMIM:617773 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Oculomotor apraxia, Ataxia, Choreoathetosis, Jerky head movements |
OMIM:245348 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor, Abnormal ... |
ORPHA:485421 |
| Smith-Magenis Syndrome |
|
Motor stereotypy, EEG abnormality, Hyperactivity, Impaired pain sensation, Morphological abnormal... |
OMIM:182290 |
| Early Infantile Epileptic Encephalopathy |
|
EEG abnormality, Atonic seizure, EEG with spike-wave complexes, Generalized tonic seizure, Myoclo... |
ORPHA:1934 |
| Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Ataxia, Impaired vibration sensation at ankles, Limb ataxia, Poor coordination,... |
ORPHA:98772 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Motor stereotypy, Attention deficit hyperactivity disorder, Hyperactivity, Macrotia |
OMIM:618504 |
| Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
| Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Hyperactivity, Resting tremor, Parkinsonism, Tremor, Shuffling gait, Focal EEG ... |
ORPHA:3077 |
| Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Shukla-Vernon Syndrome |
|
Motor stereotypy, Broad-based gait, Attention deficit hyperactivity disorder |
OMIM:301029 |
| Spinocerebellar Ataxia 29 |
|
Broad-based gait, Truncal titubation, Focal impaired awareness seizure, Dysmetria, Limb ataxia, I... |
OMIM:117360 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Decreased thalamic volume, Hydrocephalus, Optic nerve hypoplasia, Abnormal pyramidal sign, Optic ... |
ORPHA:370959 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
EEG with photoparoxysmal response, Ataxia, Blepharospasm, Jerk-locked premyoclonus spikes, EEG wi... |
OMIM:607876 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:608030 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... |
ORPHA:1215 |
| Nicolaides-Baraitser Syndrome |
|
Status epilepticus, Epileptic spasm, Generalized non-motor (absence) seizure, Seizure |
ORPHA:3051 |
| Oculocerebrodental Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Hearing impairment, Abnormality ... |
ORPHA:557003 |
| Angelman Syndrome |
|
Broad-based gait, Status epilepticus, Ataxia, EEG abnormality, Recurrent hand flapping, Inability... |
ORPHA:72 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
EEG abnormality, Recurrent hand flapping, Macrotia |
OMIM:617268 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Motor stereotypy, EEG with focal spikes, Interictal epileptiform activity, Increased theta freque... |
ORPHA:98784 |
| Primary Lateral Sclerosis |
|
Atrophy of the spinal cord, Cervical spinal cord atrophy, Abnormal upper motor neuron morphology |
ORPHA:35689 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Hypertonia, Hyperactivity, Optic atrophy, Lethargy, Tetraplegia |
OMIM:274270 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Inability to walk, Recurrent hand flapping, Opisthotonus, Limb hyperton... |
OMIM:619580 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance, Abnormal audito... |
OMIM:601455 |
| Partial Chromosome Y Deletion |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility |
ORPHA:1646 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Broad-based gait, Ataxia, EEG abnormality, Recurrent hand flapping, Hyperactivity... |
ORPHA:98794 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormality of thalamus morphology, Low-set ears, Attention deficit hyperactivity disorder |
ORPHA:404440 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Facial diplegia, Motor stereotypy, Dysmetria, Babinski sign, Truncal ataxia, Attention deficit hy... |
OMIM:619121 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Orthostatic hypotension, Abnormal upper motor neuron morphology |
OMIM:263570 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619528 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hypertonia, Atonic seizure, Generalized myoclonic seizure, Epileptic spasm, Athetosis, Bilateral ... |
ORPHA:79351 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
| Hydranencephaly |
|
Infantile sensorineural hearing impairment, Atrophic pituitary gland, Opisthotonus, Optic nerve h... |
ORPHA:2177 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
| Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Agenesis of corpus callosum, Stereotypical hand wringing, Generalized non-motor (absence) seizure... |
OMIM:612337 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
