| Intellectual Developmental Disorder, Autosomal Dominant 3 |
|
Seizure |
OMIM:612580 |
| Intellectual Developmental Disorder, X-Linked 96 |
|
Seizure |
OMIM:300802 |
| Intellectual Developmental Disorder, X-Linked 88 |
|
Seizure |
OMIM:300852 |
| 15q13.3 microdeletion syndrome |
|
Seizure |
DECIPHER:74 |
| Epilepsy, Nocturnal Frontal Lobe, 3 |
|
Seizure |
OMIM:605375 |
| Intellectual Developmental Disorder, Autosomal Dominant 10 |
|
Seizure |
OMIM:614256 |
| Kifafa Seizure Disorder |
|
Seizure |
OMIM:245180 |
| Intellectual Developmental Disorder, Autosomal Recessive 10 |
|
Seizure |
OMIM:611096 |
| Epilepsy, Benign Occipital |
|
EEG abnormality, Seizure |
OMIM:132090 |
| Epilepsy, Reading |
|
EEG abnormality, Seizure |
OMIM:132300 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonic seizure, Cerebellar atrophy, EEG with generalized epileptiform discharges, Myoclonus, T... |
OMIM:616187 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl... |
OMIM:613608 |
| Gombo Syndrome |
|
Radial deviation of finger, Clinodactyly, Microcephaly, Brachydactyly, Microphthalmia |
OMIM:233270 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... |
OMIM:601068 |
| Angelman syndrome (Type 2) |
|
Truncal ataxia, EEG abnormality, Seizure |
DECIPHER:54 |
| Angelman syndrome (Type 1) |
|
Truncal ataxia, EEG abnormality, Seizure |
DECIPHER:4 |
| Developmental And Epileptic Encephalopathy 15 |
|
Myoclonic seizure, Inability to walk, Focal clonic seizure, Epileptic spasm, Tonic seizure, Hypsa... |
OMIM:615006 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxi... |
OMIM:614322 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Myoclonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizur... |
OMIM:619964 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia |
ORPHA:22 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... |
ORPHA:93403 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Tremor, E... |
OMIM:615127 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, EEG with photoparoxysmal res... |
OMIM:616230 |
| Megalencephaly With Dysmyelination |
|
Spasticity, EEG with photoparoxysmal response, Seizure, Ataxia |
OMIM:249240 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... |
OMIM:174500 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizur... |
OMIM:617831 |
| Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
| Developmental Delay With Dysmorphic Facies And Dental Anomalies |
|
Spasticity, EEG abnormality, Seizure, Ataxia |
OMIM:619228 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
| Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
| Synpolydactyly 1 |
|
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... |
OMIM:186000 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonic seizure, Seizure, Abnormal cerebellum morphology, Myoclonus, Abnormality of extrapyrami... |
OMIM:162350 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... |
OMIM:614417 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Optic atrophy, Myoclonic seizure, Cerebellar atrophy, Generalized myoclonic seizure, Myoclonic st... |
OMIM:611726 |
| Perioral Myoclonia With Absences |
|
Falls, Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Focal seizure with... |
ORPHA:139426 |
| Myoclonic Epilepsy, Familial Infantile |
|
Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... |
OMIM:605021 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, EEG with spike-wave ... |
OMIM:614018 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys... |
OMIM:254800 |
| Spastic Ataxia With Congenital Miosis |
|
Spastic ataxia, Seizure, Hemiplegia/hemiparesis, Ataxia |
ORPHA:1182 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
| Developmental And Epileptic Encephalopathy 31A |
|
Myoclonic seizure, Difficulty walking, Inability to walk, Epileptic spasm, Tonic seizure, Hypsarr... |
OMIM:616346 |
| Developmental And Epileptic Encephalopathy 33 |
|
Myoclonic seizure, Typical absence seizure, Seizure, Incoordination, Epileptic spasm, Hypsarrhyth... |
OMIM:616409 |
| Developmental And Epileptic Encephalopathy 67 |
|
Cerebellar atrophy, Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seiz... |
OMIM:618141 |
| Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset |
OMIM:611630 |
| Episodic Ataxia, Type 5 |
|
Typical absence seizure, Episodic ataxia, Febrile seizure (within the age range of 3 months to 6 ... |
OMIM:613855 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, EEG with spike-wave complexes, Gait ataxia, Myoclonus, Tremor, EEG with polyspike wave co... |
OMIM:618587 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Typical absence seizure, Bilateral tonic-clonic seizure on awakening, Episodic ataxia, Generalize... |
OMIM:607682 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Truncal ataxia, Unsteady gait |
OMIM:608636 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Polymicrogyria, Hydrocephalus, Macrocephaly, Postaxial hand polydactyly, Thick corpus callosum, M... |
OMIM:615938 |
| Stxbp1-Related Encephalopathy |
|
EEG with abnormally slow frequencies, Spasticity, Generalized myoclonic seizure, Focal impaired a... |
ORPHA:599373 |
| Developmental And Epileptic Encephalopathy 59 |
|
Inability to walk, Focal clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilater... |
OMIM:617904 |
| Cerebellar Atrophy, Developmental Delay, And Seizures |
|
EEG abnormality, Myoclonic seizure, Cerebellar atrophy, Bilateral tonic-clonic seizure with focal... |
OMIM:617643 |
| Syndactyly, Type Iv |
|
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... |
OMIM:186200 |
| Epilepsy, Familial Temporal Lobe, 8 |
|
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... |
OMIM:616461 |
| Syndactyly Type 1 |
|
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... |
ORPHA:93402 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... |
OMIM:600512 |
| Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Cerebellar atrophy, Clumsiness, EEG abnormality, Bilateral tonic-clonic seizure, Focal impaired a... |
OMIM:610003 |
| Syndactyly, Type Iii |
|
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... |
OMIM:186100 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Giant somatosensory evoked potentials,... |
OMIM:618876 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Optic atrophy, Spasticity, Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence)... |
OMIM:617810 |
| Seizures, Benign Familial Infantile, 5 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
OMIM:617080 |
| Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Continuous Spikes And Waves During Sleep |
|
Myoclonic absence seizure, Continuous spike and waves during slow sleep, Typical absence seizure,... |
ORPHA:725 |
| Centralopathic Epilepsy |
|
Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure |
OMIM:117100 |
| Triphalangeal Thumb With Polysyndactyly |
|
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... |
OMIM:190605 |
| Febrile Seizures, Familial, 5 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:609255 |
| Febrile Seizures, Familial, 6 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:609253 |
| Febrile Seizures, Familial, 4 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:604352 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:602477 |
| Febrile Seizures, Familial, 1 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:121210 |
| Dystonia 31 |
|
Arm dystonia, Abnormal posturing, Generalized dystonia, Leg dystonia, Parkinsonism, Craniofacial ... |
OMIM:619565 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Myoclonic seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, Aton... |
OMIM:617113 |
| Developmental And Epileptic Encephalopathy 12 |
|
Spasticity, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal... |
OMIM:613722 |
| Epilepsy, Nocturnal Frontal Lobe, 1 |
|
Focal-onset seizure, Seizure |
OMIM:600513 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Generalized myoclonic seizure, Cerebellar atrophy, Progressive sensorineural hearing impairment, ... |
OMIM:301020 |
| Epilepsy, Myoclonic Juvenile |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, EEG with gen... |
OMIM:254770 |
| Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, In... |
OMIM:615400 |
| Developmental Delay With Or Without Epilepsy |
|
EEG with frontal focal spikes, Spasticity, Myoclonic seizure, Cerebellar atrophy, Atonic seizure,... |
OMIM:620540 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr... |
OMIM:618090 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Seizure, Myoclonus, Loss of ambulation, EEG abnormality, Ataxia |
OMIM:600143 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Myoclonic absence seizure, Tremor, Rigidity, Chiari type I malformation, EEG abnormality, Bilater... |
OMIM:617836 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... |
ORPHA:3246 |
| Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Cerebellar atrophy, Seizure, EEG with generalized polyspikes, Ataxia, Generalized ... |
OMIM:614706 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
| Benign Familial Infantile Epilepsy |
|
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... |
ORPHA:306 |
| Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Inability to walk, Lower limb spasticity, Bilateral tonic-clonic seizure |
OMIM:619639 |
| Episodic Ataxia, Type 9 |
|
Seizure, Episodic ataxia, Cerebellar edema, Tonic seizure, Bilateral tonic-clonic seizure, Status... |
OMIM:618924 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Somatic sensory dysfunction, Seizure, Abnormality of somatos... |
ORPHA:320401 |
| Spinal Muscular Atrophy With Impaired Intellectual Development |
|
Microcephaly, Syndactyly |
OMIM:271109 |
| Epilepsy, Familial Adult Myoclonic, 7 |
|
Seizure, Myoclonic tremor |
OMIM:618075 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
| Benign Familial Neonatal-Infantile Seizures |
|
Continuous spike and waves during slow sleep, Neonatal seizure, Episodic ataxia, Focal clonic sei... |
ORPHA:140927 |
| Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure, Ataxia |
OMIM:617709 |
| Dravet Syndrome |
|
Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absen... |
OMIM:607208 |
| Progressive Myoclonic Epilepsy Type 3 |
|
Optic atrophy, Cerebellar atrophy, Limb myoclonus, Focal myoclonic seizure, Febrile seizure (with... |
ORPHA:263516 |
| Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Optic atrophy, Hearing impairment, Seizure, Olivopontocerebellar atrophy, EEG abnormality, Hypert... |
ORPHA:2732 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Cerebellar atrophy, Seizure, Action tremor, Rigidity, Babinski sign, Parkinson... |
OMIM:300423 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech |
OMIM:160120 |
| Epilepsy, Early-Onset, 3, With Or Without Developmental Delay |
|
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:620465 |
| Landau-Kleffner Syndrome |
|
Speech apraxia, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, ... |
ORPHA:98818 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Developmental And Epileptic Encephalopathy 42 |
|
Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, EEG abnormality, Hyperto... |
OMIM:617106 |
| Developmental And Epileptic Encephalopathy 104 |
|
Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilate... |
OMIM:619970 |
| Polydactyly, Postaxial, Type A1 |
|
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... |
OMIM:174200 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Seizure, Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor ... |
OMIM:615362 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... |
OMIM:616515 |
| Developmental And Epileptic Encephalopathy 94 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... |
OMIM:615369 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Difficulty walking, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ataxia |
OMIM:619191 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Hand tremor, Myoclonus, Prolonged somatosensory evoked potentials, Focal hemifacial clonic seizur... |
OMIM:608105 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Cerebellar hypoplasia, Seizure, Tremor, Ataxia |
OMIM:213000 |
| Developmental And Epileptic Encephalopathy 37 |
|
Spasticity, Cerebellar atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic move... |
OMIM:616981 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Continuous spike and waves during slow sleep, EEG with centrotemporal focal spike waves, Seizure,... |
OMIM:245570 |
| Lennox-Gastaut Syndrome |
|
Falls, EEG with focal sharp slow waves, Myoclonus, Focal-onset seizure, Generalized tonic seizure... |
ORPHA:2382 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:616685 |
| Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Ataxia, Spasticity, Cerebellar atrophy, Seizure, Chiari type I malformation, Babinski sign, Impai... |
OMIM:619742 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:616172 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Developmental And Epileptic Encephalopathy 47 |
|
Cerebellar atrophy, Inability to walk, Limb ataxia, Focal-onset seizure, Tonic seizure, Gait dist... |
OMIM:617166 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-... |
ORPHA:36387 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... |
OMIM:607876 |
| Developmental And Epileptic Encephalopathy 27 |
|
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Hyp... |
OMIM:616139 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... |
OMIM:604233 |
| Developmental And Epileptic Encephalopathy 53 |
|
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsar... |
OMIM:617389 |
| Familial Focal Epilepsy With Variable Foci |
|
Interictal EEG abnormality, Paresthesia, Infantile spasms, Focal-onset seizure, Deja vu aura, Noc... |
ORPHA:98820 |
| Autosomal Recessive Spastic Paraplegia Type 27 |
|
Spastic paraplegia, Abnormality of somatosensory evoked potentials, Sensorineural hearing impairm... |
ORPHA:101007 |
| Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Myoclonus, Abnormality of extrapyramidal motor function, Status epilepticus without prominent mot... |
OMIM:204300 |
| Yoon-Bellen Neurodevelopmental Syndrome |
|
Optic atrophy, Spasticity, Hearing impairment, Inability to walk, Infantile spasms, Hypsarrhythmi... |
OMIM:619701 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 8 |
|
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:612899 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Bilateral tonic-clonic seizure |
OMIM:618425 |
| Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
| Developmental And Epileptic Encephalopathy 34 |
|
Seizure, Inability to walk, Focal-onset seizure, Focal hemiclonic seizure, Abnormal pyramidal sig... |
OMIM:616645 |
| Developmental And Epileptic Encephalopathy 24 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... |
OMIM:615871 |
| Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
EEG with generalized epileptiform discharges, Continuous spike and waves during slow sleep, Seizu... |
ORPHA:163721 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:613863 |
| Kohlschutter-Tonz Syndrome |
|
Spasticity, Myoclonic seizure, Seizure, Cerebellar hypoplasia, Hypsarrhythmia, Bilateral tonic-cl... |
OMIM:226750 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... |
ORPHA:3269 |
| Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... |
OMIM:618396 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... |
ORPHA:101046 |
| Alternating Hemiplegia Of Childhood 1 |
|
Bilateral tonic-clonic seizure, Episodic quadriplegia, Choreoathetosis, Episodic hemiplegia |
OMIM:104290 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... |
OMIM:604403 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... |
OMIM:607628 |
| Developmental And Epileptic Encephalopathy 26 |
|
Focal impaired awareness seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizur... |
OMIM:616056 |
| Brachydactyly, Type C |
|
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... |
OMIM:113100 |
| Developmental And Epileptic Encephalopathy 52 |
|
Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, ... |
OMIM:617350 |
| Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Spasticity, Seizure, Inability to walk, Large earlobe, Bilateral tonic-clonic seizure, Ataxia, Un... |
OMIM:620317 |
| Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, EEG abnormality, Bilateral tonic-clonic seizure |
OMIM:614115 |
| Seizures, Benign Familial Neonatal, 1 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... |
OMIM:121200 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Limb ataxia, Myoclonus, Morning myoclonic jerks, EEG with polyspike wave complexes, Ataxia, Inten... |
ORPHA:308 |
| Developmental And Epileptic Encephalopathy 11 |
|
Spastic tetraplegia, Bilateral tonic-clonic seizure with focal onset, Hyperkinetic movements, Bil... |
OMIM:613721 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Generalized myoclonic seizure, Cerebellar atrophy, Focal impaired awareness seizur... |
ORPHA:330050 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral ... |
OMIM:619157 |
| Familial Infantile Myoclonic Epilepsy |
|
Blepharospasm, Cerebellar atrophy, Limb myoclonus, Seizure, Interictal EEG abnormality, Focal-ons... |
ORPHA:352582 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Generalized myoclonic seizure, Gait ataxia, Myoclonus, Bilateral tonic-clonic seizure, Action myo... |
OMIM:616540 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
EEG abnormality, Involuntary movements, Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:617171 |
| Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo... |
ORPHA:363710 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... |
ORPHA:1891 |
| Developmental And Epileptic Encephalopathy 54 |
|
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, EEG abnor... |
OMIM:617391 |
| Seizures, Benign Familial Infantile, 2 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... |
OMIM:605751 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... |
OMIM:618357 |
| Autosomal Spastic Paraplegia Type 30 |
|
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s... |
ORPHA:101010 |
| Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait |
OMIM:616410 |
| Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly |
OMIM:607539 |
| Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
| Nevus Comedonicus Syndrome |
|
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Microcephaly, Spina bifida, Spina bifida... |
ORPHA:64754 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized non-motor (absence) seizure, Generalized-onset seizure, Chorea, Bilateral tonic-cloni... |
ORPHA:79137 |
| Epilepsy, Familial Temporal Lobe, 6 |
|
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... |
OMIM:615697 |
| Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... |
OMIM:619317 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Hearing impairment, Ataxia |
OMIM:159800 |
| Microphthalmia/Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microcephaly, Microphthalmia |
OMIM:616335 |
| Developmental And Epileptic Encephalopathy 9 |
|
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... |
OMIM:300088 |
| Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Sensorineural hearing impairment, Ataxia |
OMIM:117210 |
| Developmental And Epileptic Encephalopathy 98 |
|
Cerebellar atrophy, EEG with burst suppression, Refractory status epilepticus, Focal-onset seizur... |
OMIM:619605 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
| Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... |
OMIM:607631 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Developmental And Epileptic Encephalopathy 93 |
|
Optic atrophy, Myoclonic seizure, Cerebellar atrophy, Febrile seizure (within the age range of 3 ... |
OMIM:618012 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:613060 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... |
OMIM:609800 |
| Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:617924 |
| Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly |
OMIM:263450 |
| Developmental And Epileptic Encephalopathy 45 |
|
Hypsarrhythmia, Seizure, Ataxia |
OMIM:617153 |
| 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, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure |
OMIM:617863 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Bilateral tonic-clonic... |
ORPHA:53583 |
| Dystonia 22, Juvenile-Onset |
|
Cerebellar atrophy, Intention tremor, Dysmetria, Lower limb spasticity, Torticollis, Bilateral to... |
OMIM:620453 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Spastic paraplegia, Impaired vibratory sensation, Postural tremor, Babinski sign, Gait disturbanc... |
ORPHA:100988 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Difficulty walking, Gait ataxia, Dysmetri... |
ORPHA:529665 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait |
ORPHA:401840 |
| Myoclonic Epilepsy Of Infancy |
|
Poor motor coordination, EEG with irregular generalized spike and wave complexes, Poor hand-eye c... |
ORPHA:86909 |
| Brachydactyly, Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ... |
OMIM:112600 |
| Unilateral Hemispheric Polymicrogyria |
|
Generalized myoclonic seizure, Infantile spasms, Hemiparesis, Focal atonic seizure, Bilateral ton... |
ORPHA:101071 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... |
ORPHA:95434 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Generalized myoclonic seizure, EEG with burst suppression, Clonic seizure, Bilateral tonic-clonic... |
OMIM:266100 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly, Microphthalmia |
OMIM:613094 |
| Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... |
ORPHA:93397 |
| Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:614499 |
| Developmental And Epileptic Encephalopathy 63 |
|
Myoclonic seizure, EEG with generalized epileptiform discharges, Conductive hearing impairment, C... |
OMIM:617976 |
| Developmental And Epileptic Encephalopathy 91 |
|
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral... |
OMIM:617711 |
| Juvenile Absence Epilepsy |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:1941 |
| Salt And Pepper Developmental Regression Syndrome |
|
Optic atrophy, Hearing impairment, Myoclonus, Bilateral tonic-clonic seizure, Multifocal epilepti... |
OMIM:609056 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Focal impaired awareness seizure, Atonic seizure, Seizure, Chorea, Abnormality of extrapyramidal ... |
ORPHA:382 |
| Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Meckel Syndrome, Type 8 |
|
Occipital encephalocele, Anophthalmia, Encephalocele, Polydactyly, Talipes equinovarus, Microceph... |
OMIM:613885 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Cerebellar atrophy, Hand tremor, Gait ataxia, Bilateral tonic-clonic seizure |
OMIM:617862 |
| Jawad Syndrome |
|
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Primary microcephaly, Single interphala... |
OMIM:251255 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spasticity, Spastic paraparesis, Cerebellar atrophy, Generalized myoclonic seizure, Myoclonus, Dy... |
ORPHA:313772 |
| Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Microcephaly, 2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Generalized non-motor (absence) seizure, Seizure, Hyperkinetic movements, EEG... |
OMIM:271980 |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:611364 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... |
ORPHA:957 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Myoclonus, Progressive gait ataxia, Bilateral sensorineural hearing impairment, Intention tremor,... |
ORPHA:2589 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Typical absence seizure, Limb myoclonus, Seizure, High-frequency sensorineural hearing impairment... |
ORPHA:2590 |
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Seizure, Gait ataxia, Ataxia, Unsteady gait |
OMIM:615705 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| 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 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Bilatera... |
OMIM:618093 |
| Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
| Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia |
OMIM:208700 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
| Developmental And Epileptic Encephalopathy 13 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:614558 |
| Mmep Syndrome |
|
Microcephaly, Triphalangeal thumb, Split foot, Microphthalmia |
ORPHA:3434 |
| Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor |
OMIM:618866 |
| Unilateral Focal Polymicrogyria |
|
EEG with frontal focal spikes, Focal impaired awareness seizure, Seizure, Abnormality of somatose... |
ORPHA:268947 |
| Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure,... |
OMIM:611603 |
| X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Action tremor, Dysmetria... |
ORPHA:93952 |
| Isolated Focal Cortical Dysplasia |
|
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... |
ORPHA:65683 |
| Acropectoral Syndrome |
|
Finger syndactyly, Preaxial hand polydactyly |
ORPHA:85203 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Febrile Seizures, Familial, 11 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... |
OMIM:614418 |
| Syndactyly Type 5 |
|
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... |
ORPHA:93406 |
| Malignant Migrating Focal Seizures Of Infancy |
|
Myoclonic seizure, Focal impaired awareness seizure, Inability to walk, Epileptic spasm, Focal he... |
ORPHA:293181 |
| Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Action tre... |
OMIM:617665 |
| Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
| Congenital Varicella Syndrome |
|
Cerebral cortical atrophy, Microcephaly, Micromelia, Microphthalmia |
ORPHA:291 |
| Developmental And Epileptic Encephalopathy 109 |
|
Spasticity, Crouch gait, Myoclonic seizure, Typical absence seizure, Gait ataxia, Myoclonus, Foca... |
OMIM:620145 |
| Seizures, Benign Familial Infantile, 3 |
|
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... |
OMIM:607745 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic absence seizure, Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Increas... |
OMIM:619000 |
| X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Apraxia, Seizure, Ataxia |
ORPHA:85338 |
| Developmental And Epileptic Encephalopathy 103 |
|
Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absen... |
OMIM:619913 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Atonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... |
OMIM:612736 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Microcep... |
OMIM:600384 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor |
OMIM:611092 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... |
OMIM:616053 |
| Wahab Syndrome |
|
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... |
OMIM:615170 |
| Camos Syndrome |
|
Optic atrophy, Spasticity, Seizure, Aplasia/Hypoplasia of the cerebellum, Ataxia, Progressive ext... |
ORPHA:83472 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Talipes equinovarus, Microcephaly, Microphtha... |
OMIM:616570 |
| Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... |
OMIM:614561 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Spasticity, Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 years), In... |
OMIM:618917 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Convulsive status epilepticus, Inability to walk, Chorea, EEG abnormality, Focal-onset seizure |
OMIM:618760 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Falls, Gait ataxia, Dysmetria, Rigidity, Bilateral tonic-clonic seizure, Unsteady gait |
OMIM:203740 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Spastic paraparesis, Cerebellar atrophy, Generalized myoclonic seizure, Myoclonus, Dy... |
OMIM:614487 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Myoclonic seizure, Conductive hearing impairment, Seizure, Inability to walk, Epileptic spasm, My... |
OMIM:618497 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus c... |
OMIM:164180 |
| Developmental And Epileptic Encephalopathy 112 |
|
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... |
OMIM:620537 |
| Lissencephaly 10 |
|
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:618873 |
| Epilepsy With Eyelid Myoclonia |
|
Continuous spike and waves during slow sleep, Limb myoclonus, Generalized non-motor (absence) sei... |
ORPHA:139431 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Involuntary movements, Spasticity, Cerebellar atrophy, Chorea, Infantile spasms, Hyperkinetic mov... |
OMIM:617493 |
| Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure with generalized... |
OMIM:609446 |
| Infantile Cerebellar-Retinal Degeneration |
|
Optic atrophy, Cerebellar atrophy, Sensorineural hearing impairment, Bilateral tonic-clonic seizu... |
OMIM:614559 |
| Alpers-Huttenlocher Syndrome |
|
Spasticity, Spastic paraparesis, Myoclonus, Focal-onset seizure, Paraparesis, Bilateral tonic-clo... |
ORPHA:726 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Seizure, Gait imbalance, Gait ataxia, Cerebellar hypoplasia, Bilateral tonic-... |
ORPHA:488635 |
| Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Hypsarrhythmia, Generalized myoclonic seizure, Seizure |
OMIM:616341 |
| Syndactyly Type 4 |
|
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... |
ORPHA:93405 |
| Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Myoclonic absence seizure, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Torticollis |
OMIM:612621 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Seizure, Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Choreoathetosis |
OMIM:125370 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Seizure, Abnormal cerebellum morphology, Myoclonus, Abnormality of extrapyramidal ... |
OMIM:204200 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Seizure, Abnormal nervous system electrophysiology, Myoclonus, Dysmetria, Los... |
OMIM:256731 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia |
OMIM:300911 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Atonic seizure, Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia, Generalized myoclonic seizure |
OMIM:612437 |
| Acropectorovertebral Dysplasia |
|
Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Spina bi... |
OMIM:102510 |
| Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida, Postaxial hand polydactyly, Ho... |
ORPHA:945 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... |
OMIM:618167 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia |
ORPHA:71289 |
| Ataxia, Sensory, 1, Autosomal Dominant |
|
Sensory ataxia, Decreased amplitude of sensory action potentials, Abnormal cerebellum morphology,... |
OMIM:608984 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Tongue fasciculations, Cerebellar atrophy, Generalized non-motor (absence) seizure, Seizure, Cere... |
OMIM:618170 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Hypoplasia o... |
OMIM:615771 |
| Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Spasticity, Hearing impairment, Seizure, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, ... |
ORPHA:208441 |
| Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy |
|
Cerebellar hypoplasia, EEG with focal spikes, Seizure, Ataxia |
OMIM:616917 |
| Developmental And Epileptic Encephalopathy 32 |
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Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), EEG wi... |
OMIM:616366 |
| Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
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Inability to walk, Broad-based gait, Infantile spasms, Bilateral tonic-clonic seizure |
OMIM:618470 |
| Frontal Encephalocele |
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Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Encephalocele, Hydrocephalus, ... |
ORPHA:1931 |
| Late-Infantile/Juvenile Krabbe Disease |
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Spastic paraparesis, Difficulty walking, Impaired tactile sensation, Loss of ambulation, Tetraple... |
ORPHA:206443 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Joint contracture of the hand, Small hypothenar eminence, Talipes equinovarus, Small thenar emine... |
OMIM:211960 |
| Ectrodactyly-Polydactyly Syndrome |
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Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... |
ORPHA:1892 |
| Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Seizure, Difficulty walking, Inability to walk, Myoclonus, EEG abnormality, Ataxia |
OMIM:617829 |
| Santos Syndrome |
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Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... |
OMIM:613005 |
| Developmental And Epileptic Encephalopathy 99 |
|
Cerebellar atrophy, Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure... |
OMIM:619606 |
| Segawa Syndrome, Autosomal Recessive |
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Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
| Spinocerebellar Ataxia 38 |
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Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia |
OMIM:615957 |
| Spina Bifida-Hypospadias Syndrome |
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Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
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Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, Parki... |
OMIM:619911 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
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Spasticity, Abnormal amplitude of flash visual evoked potentials, EEG with generalized slow activ... |
ORPHA:168491 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
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Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... |
OMIM:609432 |
| Auditory Neuropathy, Autosomal Dominant 1 |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
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Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Spastic diplegia |
OMIM:619065 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
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Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... |
ORPHA:157801 |
| Split-Hand/Foot Malformation 4 |
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Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... |
OMIM:605289 |
| Deafness, Autosomal Recessive 9 |
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Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
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Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... |
OMIM:613908 |
| Developmental And Epileptic Encephalopathy 41 |
|
Spasticity, Myoclonic seizure, Tetraparesis, Inability to walk, Epileptic spasm, Status epileptic... |
OMIM:617105 |
| Fryns Microphthalmia Syndrome |
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Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Developmental And Epileptic Encephalopathy 4 |
|
Spastic paraplegia, Spastic tetraplegia, Epileptic spasm, EEG with burst suppression, Tremor, Gen... |
OMIM:612164 |
| Leukodystrophy, Hypomyelinating, 5 |
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Truncal titubation, Delayed brainstem auditory evoked response conduction time, Decreased motor n... |
OMIM:610532 |
| Episodic Kinesigenic Dyskinesia 2 |
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Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea |
OMIM:611031 |
| Microphthalmia With Brain And Digit Anomalies |
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Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Finger syndactyly, Anophthalmi... |
ORPHA:139471 |
| Liebenberg Syndrome |
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Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... |
OMIM:186550 |
| Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... |
OMIM:616291 |
| Spinocerebellar Ataxia 43 |
|
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia |
OMIM:617018 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
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Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... |
OMIM:260300 |
| Crossed Polysyndactyly |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly |
ORPHA:2935 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
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Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:607688 |
| Congenital Disorder Of Glycosylation, Type Iaa |
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Hearing impairment, Pseudobulbar paralysis, Appendicular spasticity, Bilateral tonic-clonic seizu... |
OMIM:617082 |
| Pontocerebellar Hypoplasia, Type 14 |
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Myoclonic seizure, Hypoplasia of the pons, Infantile spasms, Focal-onset seizure, Cerebellar hypo... |
OMIM:619301 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
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