| Myoclonic Epilepsy, Hartung Type |
|
Generalized myoclonic seizure |
OMIM:159600 |
| Myoclonic Epilepsy, Progressive |
|
Generalized myoclonic seizure |
OMIM:310370 |
| Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
| Epilepsy, Familial Temporal Lobe, 7 |
|
Focal sensory seizure with auditory features |
OMIM:616436 |
| Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
| Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
| Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) 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 |
| Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal aware sensory seizure with a... |
OMIM:616461 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... |
OMIM:616685 |
| 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, Juvenile Myoclonic, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Gen... |
OMIM:617924 |
| 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 |
| Intellectual Developmental Disorder, X-Linked 89 |
|
Generalized myoclonic seizure |
OMIM:300848 |
| Epilepsy, Familial Temporal Lobe, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal impaired awareness seizure |
OMIM:611630 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... |
OMIM:604403 |
| Epilepsy, Myoclonic Juvenile |
|
Bilateral tonic-clonic seizure, Status epilepticus, Morning myoclonic jerks, Generalized non-moto... |
OMIM:254770 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m... |
OMIM:613060 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... |
OMIM:613863 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:616172 |
| Epilepsy, Familial Temporal Lobe, 4 |
|
Focal sensory seizure with visual features, Focal aware seizure, Focal impaired awareness seizure |
OMIM:611631 |
| Febrile Seizures, Familial, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:611634 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... |
OMIM:600512 |
| Intellectual Developmental Disorder, Autosomal Dominant 10 |
|
Seizure |
OMIM:614256 |
| Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
| Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
| Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized... |
OMIM:609446 |
| Developmental And Epileptic Encephalopathy 9 |
|
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... |
OMIM:300088 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Myoclonic seizure, Atypical absence seizure, Myoclonic absence seizure |
OMIM:618596 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized non-motor (ab... |
OMIM:618482 |
| Perioral Myoclonia With Absences |
|
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... |
ORPHA:139426 |
| Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Myoclon... |
ORPHA:1941 |
| Juvenile Myoclonic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Status ... |
ORPHA:307 |
| Developmental And Epileptic Encephalopathy 19 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Status epilepti... |
OMIM:615744 |
| 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 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Sta... |
OMIM:615369 |
| Dravet Syndrome |
|
Myoclonic seizure, Generalized clonic seizure, Focal aware seizure, Generalized myoclonic seizure... |
OMIM:607208 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... |
OMIM:618357 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awareness seizure, Visually-i... |
OMIM:614417 |
| Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Focal motor status epilepticu... |
OMIM:620115 |
| Jeavons Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... |
ORPHA:139431 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Myoclonic seizure, Seizure, EEG abnormality, Generalized myoclonic seizure, Ataxia, ... |
OMIM:617831 |
| Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Atonic seizure, ... |
OMIM:616056 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
| Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic... |
OMIM:618396 |
| Developmental And Epileptic Encephalopathy 56 |
|
Myoclonic seizure, Seizure, Focal motor seizure, EEG abnormality, EEG with polyspike wave complex... |
OMIM:617665 |
| Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... |
ORPHA:306 |
| Developmental And Epileptic Encephalopathy 57 |
|
Seizure, Generalized myoclonic seizure, Tonic seizure, Epileptic spasm, Atypical absence seizure |
OMIM:617771 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... |
OMIM:607682 |
| Developmental And Epileptic Encephalopathy 67 |
|
EEG abnormality, Hypsarrhythmia, Generalized myoclonic seizure, Recurrent hand flapping, Gait dis... |
OMIM:618141 |
| Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
| Continuous Spikes And Waves During Sleep |
|
EEG with centrotemporal focal spike waves, Typical absence seizure, Seizure, Focal motor seizure,... |
ORPHA:725 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Chorea, Absence seizure with eyelid myoclonia, EEG with polyspike wave complexes, Tr... |
OMIM:618587 |
| Developmental And Epileptic Encephalopathy 24 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... |
OMIM:615871 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... |
ORPHA:101039 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Poor fine motor coordination, Gene... |
ORPHA:36387 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Myoclonic status epilepticus, Ataxia, Loss of ambulation, Bilateral tonic-clonic seizu... |
OMIM:614018 |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:611364 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with polyspike wave complexes, Myoclonus, Interictal epileptiform activity, Ataxia, Bilateral... |
OMIM:254800 |
| Epilepsy, Familial Temporal Lobe, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
OMIM:615697 |
| Myoclonic-Atonic Epilepsy |
|
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Atonic seizure, Genera... |
OMIM:616421 |
| Spastic Paraplegia 72, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Hoffmann sign, Spasticity, Tip-toe gait, Spastic... |
OMIM:615625 |
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
| Landau-Kleffner Syndrome |
|
Generalized clonic seizure, Interictal EEG abnormality, EEG with temporal focal spikes, Focal imp... |
ORPHA:98818 |
| Episodic Ataxia, Type 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Truncal a... |
OMIM:613855 |
| Developmental And Epileptic Encephalopathy 54 |
|
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... |
OMIM:617391 |
| Developmental And Epileptic Encephalopathy 13 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
OMIM:614558 |
| Dravet Syndrome |
|
Poor fine motor coordination, Generalized clonic seizure, Epilepsia partialis continua, Focal-ons... |
ORPHA:33069 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Developmental And Epileptic Encephalopathy 6B |
|
Chorea, Myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Inability to walk, Focal-onse... |
OMIM:619317 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:79137 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:602477 |
| Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:121210 |
| Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609255 |
| Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609253 |
| Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604352 |
| Developmental And Epileptic Encephalopathy 52 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... |
OMIM:617350 |
| Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
| Lennox-Gastaut Syndrome |
|
Generalized tonic seizure, Falls, EEG abnormality, Focal-onset seizure, Myoclonus, Generalized my... |
ORPHA:2382 |
| Developmental And Epileptic Encephalopathy 43 |
|
Myoclonic seizure, Hypsarrhythmia, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Infant... |
OMIM:617113 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Chorea, Paresthesia, Seizure, Choreoathetosis, Ataxia, Paroxysmal dyskinesia, Lower limb spastici... |
ORPHA:98811 |
| Lissencephaly 10 |
|
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... |
OMIM:618873 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
| Developmental And Epileptic Encephalopathy 33 |
|
Myoclonic seizure, Typical absence seizure, Seizure, Hypsarrhythmia, Incoordination, Bilateral to... |
OMIM:616409 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Focal-onset seizure, Focal sensory seizure, Generalized-onset seizure, Infantile spasms |
OMIM:602066 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Gait ataxia, Myoclonic seizure, Spasticity, Inability to walk, EEG abnormality, Apraxia, Dysmetri... |
OMIM:617810 |
| Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal aware seizure, Bilateral ton... |
OMIM:608096 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Typical absence seizure, Seizure, Inability to walk, Eyelid myoclonus, Clumsiness... |
ORPHA:2590 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormality of thalamus morphology, Difficulty walking, Oromandibular dystonia, Compulsive behaviors |
ORPHA:397725 |
| Hydroxylysinuria |
|
Generalized myoclonic seizure |
OMIM:236900 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:613886 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
EEG abnormality, Rigidity, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure,... |
OMIM:617836 |
| Spinocerebellar Ataxia Type 23 |
|
Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Babinski sign, Impaired propriocep... |
ORPHA:101108 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria... |
ORPHA:251282 |
| Seizures, Benign Familial Infantile, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal impaired awaren... |
OMIM:601764 |
| Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Myo... |
ORPHA:86909 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Abnormal repetitive mannerisms, Torsion dystonia, Fo... |
ORPHA:98807 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Focal sensory seizure with visual features, Myoclonus, Focal impaired awareness seizure, Bilatera... |
OMIM:615400 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Myoclonic seizure, Seizure, Focal-onset seizure, Interictal epileptiform activity, Bilateral toni... |
OMIM:619157 |
| Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
| Carnosinemia |
|
Generalized myoclonic seizure |
OMIM:212200 |
| Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... |
OMIM:616053 |
| Developmental And Epileptic Encephalopathy 99 |
|
Focal-onset seizure, Eyelid myoclonus, Status epilepticus, Focal hemiclonic seizure, Tonic seizur... |
OMIM:619606 |
| Developmental And Epileptic Encephalopathy 103 |
|
Myoclonic seizure, Continuous spike and waves during slow sleep, EEG with polyspike wave complexe... |
OMIM:619913 |
| Developmental And Epileptic Encephalopathy 91 |
|
Myoclonic seizure, Spasticity, Seizure, Focal motor seizure, Hypsarrhythmia, Multifocal epileptif... |
OMIM:617711 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... |
OMIM:619338 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Chorea, Seizure, Abnormal head movements, Abnormality of extrapyramidal motor function, Generaliz... |
ORPHA:382 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Chorea, Ataxia, Hypoesthesia, Dysmetria, Thalamic calcification, Dysphagia, Dystonia, Bradykinesia |
OMIM:618317 |
| Bilateral Generalized Polymicrogyria |
|
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... |
ORPHA:208447 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:35878 |
| Developmental And Epileptic Encephalopathy 60 |
|
Myoclonic seizure, Seizure, Inability to walk, Spastic tetraplegia, EEG with burst suppression, H... |
OMIM:617929 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Chorea, Seizure, EEG with focal spikes, Myoclonus, Focal tonic seizure, Upper limb spasticity, Co... |
ORPHA:485350 |
| Polymicrogyria, Bilateral Temporooccipital |
|
Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Focal impaired awareness sei... |
OMIM:612691 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Focal-onset seizure, Generalized-onset seizure, Myoclonus |
ORPHA:86814 |
| Developmental And Epileptic Encephalopathy 97 |
|
Hypsarrhythmia, Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Seizure, EEG abnormality, Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral to... |
OMIM:271980 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... |
OMIM:616515 |
| Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Bilateral tonic-clonic seizure, Seizure, Myoclonic absence seizure |
OMIM:612621 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Abnormal head movements, Ataxia |
ORPHA:71518 |
| Isolated Focal Cortical Dysplasia |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Seizure, Focal-onset ... |
ORPHA:65683 |
| L-Ferritin Deficiency |
|
Generalized-onset seizure |
OMIM:615604 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Generalized tonic seizure, Inability to walk, Hypsarrhythmia, Myoclonus, Multifocal epileptiform ... |
ORPHA:411986 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Spasticity, Ataxia, Babinski sign, Difficulty walking, Generalized non-motor (absence) seizure |
OMIM:618242 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
| Developmental And Epileptic Encephalopathy 109 |
|
Gait ataxia, Myoclonic seizure, Spasticity, Typical absence seizure, Crouch gait, Myoclonus, Foca... |
OMIM:620145 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Chorea, Abnormal head movements, Involuntary movements |
OMIM:616939 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Myoclonic-Astatic Epilepsy |
|
Abnormal pyramidal sign, EEG with polyspike wave complexes, Focal-onset seizure, Generalized myoc... |
ORPHA:1942 |
| Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Focal motor seizure, Generalized non-motor (absence) seizure |
OMIM:615553 |
| Developmental And Epileptic Encephalopathy 18 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... |
OMIM:615476 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic seizure, Increased theta frequency activity in EEG, EEG with polyspike wave complexes, ... |
OMIM:619000 |
| Benign Occipital Epilepsy |
|
Focal impaired awareness seizure |
ORPHA:25968 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Generalized myoclonic seizure |
ORPHA:79156 |
| Developmental And Epileptic Encephalopathy 104 |
|
Seizure, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness ... |
OMIM:619970 |
| Spinocerebellar Ataxia 35 |
|
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... |
OMIM:613908 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Recurrent hand flapping, Agitation, Compulsive behaviors, Prominent ear helix, Imp... |
ORPHA:100973 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism |
OMIM:615493 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, EEG with series of focal spikes, Inability to walk, Focal-onset seizure, Atoni... |
ORPHA:168491 |
| Episodic Ataxia Type 4 |
|
Abnormal head movements, Incoordination, Ataxia, Frequent falls |
ORPHA:79136 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Chorea, Falls, EEG abnormality, Ataxia, Dystonia, Bruxism |
OMIM:619150 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism |
ORPHA:356996 |
| Pyridoxine-Dependent Epilepsy |
|
Seizure, EEG with generalized epileptiform discharges, Focal-onset seizure, Hypsarrhythmia, EEG w... |
ORPHA:3006 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... |
ORPHA:101046 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Limb dystonia, Limb ataxia, Thalamic calcification, Generalized dystonia, Bradykinesia |
OMIM:618824 |
| Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Focal impaired a... |
OMIM:607745 |
| Rolandic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
ORPHA:1945 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Gait ataxia, EEG with generalized epileptiform discharges, Inability to walk, T2 hypointense thal... |
ORPHA:1947 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Chorea, EEG abnormality, Inability to walk, Stereotypical hand wringing, Dystonia |
OMIM:618760 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Atonic seizure, Generalized non-motor (absence) seizure |
OMIM:610293 |
| Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Gait ataxia, Recurrent hand flapping, Hand tremor, Dysphagia, Broad-based gait |
OMIM:617862 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Poor coordination, Recurrent hand flapping, Gait disturbance, Ataxia, ... |
ORPHA:544254 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormality of thalamus morphology, Torticollis, Abnormal motor neuron morphology, Head tremor, I... |
OMIM:613724 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:247100 |
| Bilateral Frontoparietal Polymicrogyria |
|
Typical absence seizure, Seizure, Generalized myoclonic seizure, Atonic seizure, Bilateral tonic-... |
ORPHA:101070 |
| Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms... |
OMIM:619616 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Unsteady gait,... |
OMIM:616948 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Dystonia, Inability to walk, Decreased thalamic volume |
OMIM:618646 |
| Spinocerebellar Ataxia Type 40 |
|
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Unsteady gait,... |
ORPHA:423275 |
| Developmental And Epileptic Encephalopathy 110 |
|
Chorea, Spasticity, Bruxism, Focal impaired awareness hemiclonic seizure, Pain insensitivity, Con... |
OMIM:620149 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Gait ataxia, Recurrent hand flapping, Impulsivity, Low-set ears, Posteriorly rotated ears |
OMIM:619717 |
| Huntington Disease-Like 1 |
|
Gait ataxia, Poor fine motor coordination, Chorea, Abnormal head movements, Weight loss, Clumsine... |
ORPHA:157941 |
| Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:616291 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
| 3P25.3 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Abnormality of thalamus morphology, Ataxia, Abnormal repetitive... |
ORPHA:435638 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Abnormal repetitive mannerisms, Loss of ambulation, Focal T2 hyperint... |
ORPHA:79264 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Disinhibition, Gait disturbance, T2 hypointense thalamus, EEG abnormality |
OMIM:618193 |
| New-Onset Refractory Status Epilepticus |
|
EEG with frontal epileptiform discharges, EEG with generalized epileptiform discharges, Abnormal ... |
ORPHA:363558 |
| Alexander Disease Type I |
|
Abnormal thalamic MRI signal intensity, Hydrocephalus, Ataxia, Dysphagia |
ORPHA:363717 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Seizure, Ataxia, Babinski sign, Bilateral tonic-clonic seizure, Dysmetria, Multifocal seizures, T... |
OMIM:618170 |
| Infantile Convulsions And Choreoathetosis |
|
Chorea, Seizure, Focal-onset seizure, Choreoathetosis, Complex febrile seizure, Paroxysmal dyskin... |
ORPHA:31709 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Sensorineural hearing impairment, Normal pressure hydrocephalus, Inability to walk, Spastic ataxi... |
ORPHA:300570 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, EEG with occipital epileptiform discharges, Seiz... |
OMIM:619428 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, EEG abnormality, Tremor, Low-set ears, Bruxism |
OMIM:618718 |
| Urocanase Deficiency |
|
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait |
OMIM:276880 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Head titubation, Frequ... |
OMIM:611302 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Seizure, Stereotypical hand wringing, Bilateral tonic-clonic seizure, Focal impaired awareness se... |
OMIM:619854 |
| Huntington Disease-Like 3 |
|
Chorea, Spasticity, Abnormal pyramidal sign, Extrapyramidal dyskinesia, Abnormal head movements, ... |
ORPHA:157946 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal pyramidal sign, Abnormal head movements, Truncal ataxia, Progressive gait ataxia, Oculom... |
ORPHA:247815 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
| Cdkl5-Deficiency Disorder |
|
Stereotypical hand wringing, Multifocal epileptiform discharges, Gait disturbance, Impaired pain ... |
ORPHA:505652 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Gait imbalance, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, EEG with focal epilepti... |
ORPHA:98795 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
| Familial Focal Epilepsy With Variable Foci |
|
Paresthesia, Focal-onset seizure, Deja vu aura, Focal aware seizure, Interictal EEG abnormality, ... |
ORPHA:98820 |
| Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
OMIM:612577 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Optic atrophy, Limb dystonia, Gait disturbance, Compulsive behaviors, Focal dystonia, Tre... |
ORPHA:216873 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Conductive hearing impairment, Inability to walk, Stereotypical hand wringing, Choreoathetosis, D... |
OMIM:618497 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Recurrent hand flapping, Agitation, Impulsivity, Stereotypical body rocking |
OMIM:309548 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Ataxia |
ORPHA:99852 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Distal sensory im... |
OMIM:601382 |
| Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
| Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
| Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
| Tubulinopathy-Associated Dysgyria |
|
Attention deficit hyperactivity disorder, Abnormality of thalamus morphology, Ataxia |
ORPHA:467166 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Chorea, Myoclonic seizure, Cerebral palsy, Myoclonus, Recurrent hand flapping, Bilateral tonic-cl... |
OMIM:617600 |
| Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Pallor of dorsal col... |
OMIM:602433 |
| Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure |
OMIM:616281 |
| Cln5 Disease |
|
Generalized-onset seizure, Spasticity, Seizure, Dysdiadochokinesis, Inability to walk, Truncal at... |
ORPHA:228360 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:616033 |
| Lafora Disease |
|
Bilateral tonic-clonic seizure with focal onset, Erratic myoclonus, Spasticity, Seizure, Inabilit... |
ORPHA:501 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:615637 |
| Christianson Syndrome |
|
Gait ataxia, Macrotia, Truncal ataxia, Abnormal repetitive mannerisms, Dysphagia, Dystonia |
ORPHA:85278 |
| Benign Familial Neonatal Epilepsy |
|
Limb myoclonus, Generalized tonic seizure, Focal-onset seizure, Focal clonic seizure, Status epil... |
ORPHA:1949 |
| Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Low-set ears, Recurrent hand flapping, Posteriorly rotated ears |
OMIM:618147 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Focal impaired awareness seizure, Generalized non-motor (absence) seizure |
OMIM:616521 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Abnormal repetitive mannerisms, EEG with continuous slow activity, Disinhibitio... |
ORPHA:275864 |
| Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Chorea, Inability to walk, Stereotypical hand wringing, EEG abnormality, Oculogyric crisis, Dysto... |
OMIM:614254 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Low-set ears, Attention deficit hyperactivity disorder, Abnormality of thalamus morphology, Compu... |
ORPHA:404440 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
| Developmental And Epileptic Encephalopathy 42 |
|
Myoclonic seizure, EEG abnormality, Focal tonic seizure, Ataxia, Tonic seizure, Bilateral tonic-c... |
OMIM:617106 |
| Myoclonic Epilepsy, Familial Infantile |
|
Gait ataxia, Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset ... |
OMIM:605021 |
| Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
| Neuroferritinopathy |
|
Chorea, Blepharospasm, Resting tremor, Writer's cramp, T2 hypointense thalamus, Leg dystonia, Foc... |
ORPHA:157846 |
| Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Sensor... |
ORPHA:52368 |
| Foxg1 Syndrome |
|
Inability to walk, Stereotypical hand wringing, Choreoathetosis, Abnormal repetitive mannerisms, ... |
ORPHA:561854 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Optic atrophy, Bilateral sensorineural hearing impairment, Choreoathetosis, Ataxia, Tremor, Dysph... |
OMIM:619422 |
| Kohlschutter-Tonz Syndrome-Like |
|
Generalized clonic seizure, Inability to walk, Lateral ventricle dilatation, Focal-onset seizure,... |
OMIM:619229 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... |
OMIM:617519 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apr... |
ORPHA:240103 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Seizure, Clumsiness, Hydrocephalus, Bilateral tonic-clonic seizure, Generalized non-motor (absenc... |
OMIM:300558 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Somatic sensory dysfunction, Sensorineural hearing impairment, Abnormality of somatosensory evoke... |
ORPHA:320401 |
| Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Dystonia, Difficulty walking, Abnormal repetitive mannerisms, Waddling gait |
ORPHA:280763 |
| Intellectual Developmental Disorder, Autosomal Recessive 57 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Seizure... |
OMIM:617188 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Chorea, Seizure, Inability to walk, Progressive spasticity, Rigidity, Bruxism, Repetitive compuls... |
OMIM:300260 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis |
OMIM:614373 |
| Rett Syndrome |
|
Inability to walk, Stereotypical hand wringing, EEG abnormality, Abnormal autonomic nervous syste... |
ORPHA:778 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
| Atypical Rett Syndrome |
|
Gait ataxia, Inability to walk, Stereotypical hand wringing, EEG abnormality, Gait disturbance, A... |
ORPHA:3095 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Focal impaired awareness seizure |
OMIM:616193 |
| Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Focal-onset seizure, Clonic seizure, Simple febrile seizure, Bilateral tonic-clonic seizure, Foca... |
OMIM:617935 |
| Childhood Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... |
ORPHA:64280 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Repetitive compulsive behavior, Abnormal repetitive mannerisms, Compulsive behavio... |
ORPHA:352490 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Inability to walk, Focal-onset seizure, Atonic seizure, Focal impaired awarene... |
OMIM:616973 |
| Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
| Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Macrotia, Bradykinesia, Shuffling gait, Resting tremor, Spastic gait, Choreoathetos... |
OMIM:300055 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Hearing impairment, Optic atrophy |
OMIM:619057 |
| Harel-Yoon Syndrome |
|
Ataxia, Spasticity, Generalized non-motor (absence) seizure, Inability to walk |
OMIM:617183 |
| Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Cervical spinal c... |
ORPHA:35689 |
| Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure with focal onset, Focal sensory seizure with visual features, Myoc... |
OMIM:254780 |
| 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 |
| Japanese Encephalitis |
|
Abnormality of thalamus morphology, EEG abnormality, Paucity of anterior horn motor neurons, Faci... |
ORPHA:79139 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Inability to walk, Optic atrophy, Ataxia, Facial diplegia, Impaired tandem gait, Abnormal thalami... |
ORPHA:254930 |
| Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Ataxia, Sensorineural hearing impairment, Focal T2 hyperintense thalamic lesion, Agitation |
OMIM:619046 |
| Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
| Liang-Wang Syndrome |
|
Status epilepticus, Generalized non-motor (absence) seizure, Ataxia |
OMIM:618729 |
| Periventricular Nodular Heterotopia 7 |
|
Seizure, Hypsarrhythmia, Ataxia, Infantile spasms, Generalized non-motor (absence) seizure |
OMIM:617201 |
| Lamb-Shaffer Syndrome |
|
Ataxia, Hyperactivity, Optic atrophy, Abnormal repetitive mannerisms |
ORPHA:530983 |
| Optic Atrophy 11 |
|
Hyperactivity, Macrotia, Gait apraxia, Optic atrophy, Ataxia, Optic nerve hypoplasia, Facial dipl... |
OMIM:617302 |
| Lopes-Maciel-Rodan Syndrome |
|
Bradykinesia, Agitation, Tremor, Dysphagia, Unsteady gait, Dystonia, Bruxism |
OMIM:617435 |
| Cach Syndrome |
|
Optic atrophy, Truncal ataxia, Limb ataxia, T2 hypointense thalamus, Dysmetria, Dysphagia |
ORPHA:135 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Progressive sensorineural h... |
OMIM:125250 |
| Lissencephaly Due To Lis1 Mutation |
|
Generalized tonic seizure, Seizure, Focal motor seizure, Opisthotonus, Hypsarrhythmia, Generalize... |
ORPHA:95232 |
| Fragile X Syndrome |
|
Recurrent hand flapping, Macrotia, Hyperactivity, Abnormal head movements |
OMIM:300624 |
| Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Facial diplegia, Abnormal anterior horn cell morphology |
OMIM:611890 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Low-set ears, Decreased thalamic volume |
OMIM:619072 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Optic atrophy, Hydrocephalus, Tremor, Broad-based gait |
OMIM:619470 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude |
OMIM:606353 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Macrotia, Decreased response to growth hormone stimulation test, Gait disturbance, Abnormal repet... |
ORPHA:457240 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
EEG with frontal sharp slow waves, Spasticity, Seizure, Inability to walk, EEG abnormality, Limb ... |
ORPHA:457351 |
| Leigh Syndrome With Cardiomyopathy |
|
Chorea, Abnormality of thalamus morphology, Optic atrophy, Ataxia, Dysphagia, Dystonia, Hearing i... |
ORPHA:70474 |
| Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Stereotypical hand wringing, Hypsarrhythmia, Generalized myoclonic seizure, Recurrent hand flappi... |
OMIM:300912 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Seizure, Focal-onset seizure, Hemiparesis, Generalized myoclonic seizure, Hydrocephalus, Gait dis... |
ORPHA:395 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Optic atrophy, Ataxia, Tremor, Abnormal pinna morphology |
OMIM:300983 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Bruxism |
OMIM:300434 |
| Hyperprolinemia Type 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Seizure... |
ORPHA:79101 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... |
ORPHA:529970 |
| Spinocerebellar Ataxia Type 10 |
|
Gait ataxia, Generalized-onset seizure, Gait imbalance, Focal motor seizure, Dysdiadochokinesis, ... |
ORPHA:98761 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Chorea, Poor fine motor coordination, Generalized-onset seizure, EEG with generalized slow activi... |
ORPHA:79263 |
| Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
| Deafness, Autosomal Recessive 109 |
|
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment |
OMIM:618013 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:608030 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Impaired tactile sensati... |
ORPHA:206443 |
| Rhombencephalosynapsis |
|
Septo-optic dysplasia, Aganglionic megacolon, Hydrocephalus, Ataxia, Fusion of the left and right... |
ORPHA:59315 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Gait ataxia, Abnormal vestibular function, Positive Romberg sign, Abnormal thalamic MRI signal in... |
ORPHA:70595 |
| 2Q23.1 Microdeletion Syndrome |
|
Ataxia, Hyperactivity, Polyphagia, Abnormal repetitive mannerisms |
ORPHA:228402 |
| Spermatogenic Failure 25 |
|
Early spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Non-obstructive azoo... |
OMIM:617960 |
| Oculoskeletodental Syndrome |
|
Abnormality of thalamus morphology, Conductive hearing impairment, Sensorineural hearing impairme... |
ORPHA:557003 |
| Nicolaides-Baraitser Syndrome |
|
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure |
ORPHA:3051 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Eyelid myoclonus, Absence seizure with eyelid myoclonia, Generalized non-motor (absence) seizure,... |
OMIM:613839 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Abnormal autonomic nervous system physiology, Action tremor,... |
ORPHA:99027 |
| 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 |
| Early Infantile Epileptic Encephalopathy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... |
ORPHA:1934 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Low-set ears, Recurrent hand flapping, Attention deficit hyperactivity disorder |
OMIM:620021 |
| Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, EEG abnormality |
OMIM:239500 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Gait disturbance, Decreased nerve conduction velocity, Dista... |
OMIM:601455 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Inability to walk, Optic atrophy, Gait disturbance, Dysmetria, Trem... |
ORPHA:845 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Increased theta frequency activity in EEG, EEG with focal spikes, Interictal... |
ORPHA:98784 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Myoclonic seizure, Generalized-onset seizure, Atypical absence seizure, Bilateral tonic-clonic se... |
OMIM:619835 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Unsteady gait, Hydrocephalus, Fusion of the left and right thalami |
OMIM:617542 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia |
ORPHA:1646 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Macrotia, Stereotypical hand wringing |
ORPHA:397933 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Pica, EEG abnormality, Recurrent hand flapping, Low-set ears, Unsteady gait |
OMIM:618480 |
| 48,Xxyy Syndrome |
|
Ataxia, Abnormal repetitive mannerisms, Tremor, Attention deficit hyperactivity disorder, Chronic... |
ORPHA:10 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
| Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
| Angelman Syndrome |
|
Seizure, Inability to walk, EEG abnormality, Myoclonus, Generalized myoclonic seizure, Status epi... |
ORPHA:72 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Choreoathetosis, Ataxia, Generalized dystonia, Dystonia, Jerky head movements |
OMIM:245348 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Typical absence seizure, Seizure |
ORPHA:576283 |
| Aceruloplasminemia |
|
Gait ataxia, Chorea, Blepharospasm, Akinesia, Torticollis, Limb ataxia, Ataxia, Tremor, Abnormal ... |
ORPHA:48818 |
| Spermatogenic Failure 63 |
|
Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
| Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Gait imbalance, EEG abnormality, Recurrent hand flapping, Ataxia, EEG with abnorma... |
ORPHA:98794 |
| Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Azoospermia |
OMIM:618110 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Recurrent hand flapping, Macrotia, EEG abnormality |
OMIM:617268 |
| Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Generalized non-motor (absence) seizure, EEG abnormality |
OMIM:300801 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Gait ataxia, Somatic sensory dysfunction, Sensorineural hearing impairment, Paresthesia, Inabilit... |
ORPHA:101085 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, EEG abnormality, Hypsarrhythmia, Abnormal thalamic MRI signal intensity, Decreased... |
ORPHA:485421 |
| Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Sensorineural he... |
ORPHA:95513 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Abnormal autonomic nervous system physiology, Recurrent hand flapping, Gait disturbance, Agitatio... |
OMIM:617903 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Macrotia, Stereotypical hand wringing, Gait disturbance, Ataxia, Abnormal pinna mo... |
OMIM:614104 |
| Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Seizure, Stereotypical hand wringing, Bruxism, Agenesis of corpus callosum, Generalized non-motor... |
OMIM:612337 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormality of thalamus morphology, Paresthesia, Progressive sensorineural hearing impairment, Br... |
ORPHA:2959 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Generalized-onset seizure, Spasticity, Lateral ventricle dilatation, Generalized myoclonic seizur... |
ORPHA:77299 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Focal emotional seizure with laughing, Spasticity, Hypogonadism, Spastic tetraplegia, Generalized... |
ORPHA:79351 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Sensorineural hearing impairment, Bruxism, Tremor, Attention deficit hyperactivity... |
OMIM:618342 |
| Angelman Syndrome Due To A Point Mutation |
|
Gait imbalance, EEG abnormality, Recurrent hand flapping, Ataxia, Tongue thrusting, Abnormal eati... |
ORPHA:411511 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Agitation, Ataxia, Lethargy, Abnormal repetitive mannerisms |
ORPHA:927 |
| Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Myoclonic seizure, Ankle clonus, Seizure, Multifocal epileptiform discharges, Ataxia, Babinski si... |
OMIM:615398 |
| Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
| 4Q21 Microdeletion Syndrome |
|
Low-set ears, Tremor, Hearing impairment, Abnormal repetitive mannerisms |
ORPHA:238750 |
| Acute Disseminated Encephalomyelitis |
|
Somatic sensory dysfunction, EEG with focal slow activity, EEG with focal spikes, Interictal EEG ... |
ORPHA:83597 |
| Leigh Syndrome |
|
Chorea, Macrotia, Sensorineural hearing impairment, Optic atrophy, Hypsarrhythmia, Choreoathetosi... |
ORPHA:506 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Neurogenic bladder, Optic nerve hypoplasia, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
| Spinocerebellar Ataxia 29 |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Broad-based gait, Truncal titubation, Impaired tand... |
OMIM:117360 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Difficulty walking, Abnormal cranial nerve morphology,... |
OMIM:601596 |
| Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Hyperactivity, Macrotia, Low-set ears, Posteriorly rotated ears |
OMIM:609425 |
| Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal on... |
OMIM:618354 |
| Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Gait ataxia, Chorea, Inability to walk, Stereotypical hand wringing, Dystonia |
OMIM:618917 |
| Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, EEG with generalized epileptiform discharges, Stereotypical hand wringing, EEG wit... |
ORPHA:163681 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Orthostatic hypotension, Abnormal upper motor neuron morphology |
OMIM:263570 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Recurrent hand flapping, Posteriorly rotated ears, Pica |
OMIM:615032 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Hypoplastic helices, EEG abnormality, Abnormality of the ear, Repetitive compulsive behavior, Rec... |
ORPHA:391372 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cranial nerve compression, Abnormal motor neuron morphology, Amyotrophic lateral sclerosis |
ORPHA:52430 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Gait ataxia, Chorea, Hyperactivity, Inability to walk, EEG abnormality, Impaired pain sensation, ... |
ORPHA:500180 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Hyperactivity, Inability to walk, Gait disturbance, Dysmetria, Tremor |
OMIM:618090 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Macrotia, Abnormal repetitive mannerisms |
ORPHA:391307 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Tics, Obsessive-compulsive trait, Lower limb spasticity, Generalized non-motor (absence) seizure |
ORPHA:363686 |
| Juvenile Huntington Disease |
|
Gait ataxia, Chorea, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Dystonia, Broad-based ... |
ORPHA:248111 |
| 5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:228384 |
| Rett Syndrome |
|
Gait ataxia, Gait apraxia, EEG abnormality, Stereotypical hand wringing, Truncal ataxia, Dystonia... |
OMIM:312750 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal upper motor neuron morphology, Decreased nerve conduction velocity, Abnormal lower motor... |
OMIM:606070 |
| Bickerstaff Brainstem Encephalitis |
|
EEG abnormality, Decreased motor nerve conduction velocity, Abnormality of the autonomic nervous ... |
ORPHA:79138 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Truncal ataxia, Recurrent hand flapping, Limb ataxia, Broad-based gait, Low-set ears, Cupped ear,... |
OMIM:617101 |
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:105400 |
| Alazami Syndrome |
|
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Stereotypical hand wringing |
ORPHA:319671 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Unsteady gait, Hyperactivity |
OMIM:615516 |
| Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:301091 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Optic atrophy, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms |
ORPHA:313892 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology |
ORPHA:275872 |
| Adenohypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Sensorineural he... |
ORPHA:95512 |
| Megalocornea-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, EEG abnormality, Ataxia, Abnormal repetitive mannerisms, Protru... |
ORPHA:2479 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Pica, Hyperactivity, Tics, Ataxia, Tongue thrusting, Stereotypical body rocking, Unsteady gait, B... |
OMIM:617865 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Azoospermia |
ORPHA:276183 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
| Macrocephaly-Developmental Delay Syndrome |
|
EEG with generalized slow activity, Abnormal speech discrimination, Abnormal repetitive mannerisms |
ORPHA:397612 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Abnormal repetitive mannerisms |
ORPHA:3306 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Optic atrophy, Repetitive compulsive behavior, Compulsive behaviors, Optic nerve hypoplasia, Atte... |
ORPHA:401777 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology |
OMIM:215470 |
