| Myoclonic Epilepsy, Hartung Type |
|
Generalized myoclonic seizure |
OMIM:159600 |
| Intellectual Developmental Disorder, X-Linked 89 |
|
Generalized myoclonic seizure |
OMIM:300848 |
| Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... |
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 non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... |
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 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:614280 |
| Epilepsy, Familial Temporal Lobe, 8 |
|
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... |
OMIM:616461 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:616685 |
| 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 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... |
OMIM:604233 |
| 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 |
| Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
| Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset |
OMIM:611630 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... |
OMIM:604403 |
| Epilepsy, Myoclonic Juvenile |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... |
OMIM:254770 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 8 |
|
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:612899 |
| 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 7 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:613863 |
| Epilepsy, Early-Onset, 3, With Or Without Developmental Delay |
|
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:620465 |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:611364 |
| Febrile Seizures, Familial, 9 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:611634 |
| Epilepsy, Familial Temporal Lobe, 4 |
|
Focal aware seizure, Focal impaired awareness seizure, Focal sensory seizure with visual features |
OMIM:611631 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:618482 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... |
OMIM:600512 |
| Intellectual Developmental Disorder, Autosomal Dominant 10 |
|
Seizure |
OMIM:614256 |
| Developmental And Epileptic Encephalopathy 9 |
|
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... |
OMIM:300088 |
| Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, S... |
OMIM:609446 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... |
OMIM:618357 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
| Juvenile Myoclonic Epilepsy |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:307 |
| Juvenile Absence Epilepsy |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:1941 |
| Perioral Myoclonia With Absences |
|
Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil... |
ORPHA:139426 |
| Developmental And Epileptic Encephalopathy 19 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... |
OMIM:615744 |
| Benign Familial Infantile Epilepsy |
|
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... |
ORPHA:306 |
| Landau-Kleffner Syndrome |
|
Speech apraxia, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, ... |
ORPHA:98818 |
| Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... |
OMIM:600131 |
| Febrile Seizures, Familial, 8 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... |
OMIM:607681 |
| Developmental And Epileptic Encephalopathy 94 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... |
OMIM:615369 |
| Developmental And Epileptic Encephalopathy 26 |
|
Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur... |
OMIM:616056 |
| Continuous Spikes And Waves During Sleep |
|
Myoclonic absence seizure, Speech apraxia, EEG with frontal focal spike waves, Focal hemiclonic s... |
ORPHA:725 |
| Dravet Syndrome |
|
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sta... |
OMIM:607208 |
| Epilepsy With Eyelid Myoclonia |
|
Continuous spike and waves during slow sleep, Abnormal head movements, Limb myoclonus, Generalize... |
ORPHA:139431 |
| Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Action tre... |
OMIM:617665 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... |
OMIM:614417 |
| Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... |
OMIM:618396 |
| Developmental And Epileptic Encephalopathy 108 |
|
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... |
OMIM:620115 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... |
OMIM:617831 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure |
OMIM:618596 |
| Developmental And Epileptic Encephalopathy 24 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... |
OMIM:615871 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:101039 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... |
OMIM:607682 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hypsarrhyt... |
OMIM:617113 |
| Developmental And Epileptic Encephalopathy 57 |
|
Seizure, Epileptic spasm, Tonic seizure, Atypical absence seizure, Generalized myoclonic seizure |
OMIM:617771 |
| Seizures, Benign Familial Infantile, 5 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
OMIM:617080 |
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:300388 |
| Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
| 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 |
| Developmental And Epileptic Encephalopathy 67 |
|
Generalized non-motor (absence) seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic... |
OMIM:618141 |
| Developmental And Epileptic Encephalopathy 31A |
|
Self-injurious behavior, Myoclonic seizure, Difficulty walking, Inability to walk, Epileptic spas... |
OMIM:616346 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-... |
ORPHA:36387 |
| Developmental And Epileptic Encephalopathy 33 |
|
Myoclonic seizure, Typical absence seizure, Seizure, Incoordination, Epileptic spasm, Aggressive ... |
OMIM:616409 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, EEG with spike-wave ... |
OMIM:614018 |
| Epilepsy, Familial Temporal Lobe, 6 |
|
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... |
OMIM:615697 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys... |
OMIM:254800 |
| Developmental And Epileptic Encephalopathy 54 |
|
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... |
OMIM:617391 |
| Lennox-Gastaut Syndrome |
|
Falls, EEG with focal sharp slow waves, Myoclonus, Focal-onset seizure, Generalized tonic seizure... |
ORPHA:2382 |
| Developmental And Epileptic Encephalopathy 112 |
|
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... |
OMIM:620537 |
| Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... |
OMIM:619317 |
| Myoclonic-Atonic Epilepsy |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Eyelid myoclonus, Gen... |
OMIM:616421 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Involuntary movements, Seizure, Generalized non-motor (absence) seizure, Chorea, Paresthesia, Agg... |
ORPHA:98811 |
| Developmental Delay With Or Without Epilepsy |
|
EEG with frontal focal spikes, Spasticity, Myoclonic seizure, Atonic seizure, Generalized non-mot... |
OMIM:620540 |
| Spastic Paraplegia 72A, Autosomal Dominant |
|
Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho... |
OMIM:615625 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Inflexible adherence to routines, EEG abnormality, Truncal ataxia, Unsteady... |
OMIM:608636 |
| Episodic Ataxia, Type 5 |
|
Typical absence seizure, Episodic ataxia, Febrile seizure (within the age range of 3 months to 6 ... |
OMIM:613855 |
| Seizures, Benign Familial Infantile, 2 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... |
OMIM:605751 |
| Stxbp1-Related Encephalopathy |
|
EEG with abnormally slow frequencies, Spasticity, Generalized myoclonic seizure, Focal impaired a... |
ORPHA:599373 |
| Myoclonic Epilepsy Of Infancy |
|
Poor motor coordination, EEG with irregular generalized spike and wave complexes, Poor hand-eye c... |
ORPHA:86909 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Typical absence seizure, Limb myoclonus, Seizure, Difficulty walking, Inability to walk, Myoclonu... |
ORPHA:2590 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines |
OMIM:300425 |
| Dravet Syndrome |
|
Incoordination, Action tremor, Obsessive-compulsive trait, Focal hemiclonic seizure, Parkinsonism... |
ORPHA:33069 |
| Myasthenic Syndrome, Congenital, 18 |
|
Difficulty walking, Fatigable weakness, Ataxia |
OMIM:616330 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Aggressive... |
OMIM:619157 |
| Lissencephaly 10 |
|
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:618873 |
| Developmental And Epileptic Encephalopathy 13 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:614558 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| 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 |
| 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 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Hand tremor, Vertigo, Chorea, Postural tremor, Motor tics, Athetosis, Thalamic calcification |
OMIM:615483 |
| Autism |
|
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines |
OMIM:607373 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Falls, Bruxism, Chorea, Inappropriate laughter, Aggressive behavior, EEG abnormality, Ataxia, Dys... |
OMIM:619150 |
| Developmental And Epileptic Encephalopathy 52 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,... |
OMIM:617350 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
ORPHA:79137 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Hydrocephalus, Ataxia |
OMIM:618709 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Hyperkinetic movements... |
OMIM:271980 |
| Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Hydrocephalus, Motor... |
OMIM:619470 |
| Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... |
OMIM:608096 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability to walk, Gait a... |
OMIM:617810 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Generalized-onset seizure, Focal sensory seizure, Infantile spasms, Focal-onset seizure |
OMIM:602066 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Chorea, Dysmetria, Thalamic calcification, Dystonia, Ataxia, Hypoesthesia, Bradykinesia, Dysphagia |
OMIM:618317 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... |
ORPHA:251282 |
| N-Acetylaspartate Deficiency |
|
Broad-based gait, Self-mutilation, Decreased body weight, Truncal ataxia, Unsteady gait, Motor st... |
OMIM:614063 |
| Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Optic atrophy, Hypsarrhythmia, Motor stereotypy |
OMIM:617830 |
| Hyperprolinemia, Type I |
|
Aggressive behavior, EEG abnormality, Hyperactivity, Ataxia, Motor stereotypy |
OMIM:239500 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Focal impaired awareness seizure, Atonic seizure, Seizure, Abnormal head... |
ORPHA:382 |
| Developmental And Epileptic Encephalopathy 103 |
|
Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absen... |
OMIM:619913 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls |
OMIM:615945 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Myoclonic absence seizure, Tremor, Rigidity, EEG abnormality, Bilateral tonic-clonic seizure, Ata... |
OMIM:617836 |
| Coasy Protein-Associated Neurodegeneration |
|
Compulsive behaviors, Difficulty walking, Abnormal thalamus morphology, Oromandibular dystonia |
ORPHA:397725 |
| Hydroxylysinuria |
|
Generalized myoclonic seizure |
OMIM:236900 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Inability to walk, EEG abnormality, Dystonia, Motor stereotypy |
OMIM:617820 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Progressive cerebellar ataxia, Self-injurious behavior, Generalized non-motor (absence) seizure, ... |
ORPHA:485350 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617787 |
| Spinocerebellar Ataxia Type 23 |
|
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... |
ORPHA:101108 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... |
OMIM:619338 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608631 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis |
OMIM:617270 |
| Febrile Seizures, Familial, 11 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... |
OMIM:614418 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Aggressive behavior, Motor stereotypy, EEG abnormality, Agitation |
OMIM:617171 |
| Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Spasticity, Generalized myoclonic seizure, Typical absence seizure, Late... |
ORPHA:208447 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Hand tremor, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy |
OMIM:617862 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Motor stereotypy |
OMIM:606053 |
| Rolandic Epilepsy |
|
EEG with irregular generalized spike and wave complexes, EEG with centrotemporal focal spike wave... |
ORPHA:1945 |
| Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Focal sensory seizur... |
OMIM:615400 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Hearing impairment, Foca... |
OMIM:613724 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... |
OMIM:616053 |
| Developmental And Epileptic Encephalopathy 109 |
|
Spasticity, Crouch gait, Myoclonic seizure, Typical absence seizure, Gait ataxia, Myoclonus, Foca... |
OMIM:620145 |
| Developmental And Epileptic Encephalopathy 99 |
|
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... |
OMIM:619606 |
| Carnosinemia |
|
Generalized myoclonic seizure |
OMIM:212200 |
| Primary Dystonia, Dyt13 Type |
|
Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Action tremor, Craniofaci... |
ORPHA:98807 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal amplitude of flash visual evoked potentials, Obsessive-compulsive trait, EEG... |
ORPHA:168491 |
| Developmental And Epileptic Encephalopathy 91 |
|
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral... |
OMIM:617711 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus, Gait disturbance, EEG abnormality, Disinhibition |
OMIM:618193 |
| Myoclonic-Astatic Epilepsy |
|
EEG with irregular generalized spike and wave complexes, Atonic seizure, Generalized non-motor (a... |
ORPHA:1942 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
EEG with abnormally slow frequencies, EEG with generalized epileptiform discharges, Inability to ... |
ORPHA:1947 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Low-set ears, Inability to walk, Bruxism, Tremor, Motor stereotypy, Hype... |
OMIM:618718 |
| Chromosome 3Q29 Deletion Syndrome |
|
Low-set ears, Gait ataxia, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor st... |
OMIM:609425 |
| Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure |
OMIM:612621 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:35878 |
| Developmental And Epileptic Encephalopathy 60 |
|
Myoclonic seizure, Focal impaired awareness seizure, Seizure, Inability to walk, Epileptic spasm,... |
OMIM:617929 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Hypsarrhythmia, Tremor, Stereotypical hand wringing |
OMIM:619561 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:619000 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Generalized non-motor (absence) seizure, Seizure |
OMIM:613886 |
| Urocanase Deficiency |
|
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia |
OMIM:276880 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Generalized-onset seizure, Myoclonus, Focal-onset seizure |
ORPHA:86814 |
| Developmental And Epileptic Encephalopathy 104 |
|
Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic... |
OMIM:619970 |
| L-Ferritin Deficiency |
|
Generalized-onset seizure |
OMIM:615604 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Seizures, Benign Familial Infantile, 1 |
|
Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with ... |
OMIM:601764 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Spinocerebellar Ataxia 35 |
|
Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss of ambulation, Babins... |
OMIM:613908 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Gait ataxia, Hyperactivity, Dystonia, Dysphagia, Impulsivity |
OMIM:620448 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... |
OMIM:616515 |
| Pyridoxine-Dependent Epilepsy |
|
Focal aware motor seizure, EEG with generalized epileptiform discharges, Focal myoclonic seizure,... |
ORPHA:3006 |
| Isolated Focal Cortical Dysplasia |
|
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... |
ORPHA:65683 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Developmental And Epileptic Encephalopathy 18 |
|
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... |
OMIM:615476 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Spasticity, Generalized non-motor (absence) seizure, Difficulty walking, Babinski sign, Ataxia |
OMIM:618242 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Generalized non-motor (absence) seizure, Inability to walk, Infantile spasms, Myoclonus, Generali... |
ORPHA:411986 |
| Alexander Disease Type I |
|
Dysphagia, Hydrocephalus, Abnormal thalamic MRI signal intensity, Ataxia |
ORPHA:363717 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Generalized non-motor (absence) seizure, Atonic seizure |
OMIM:610293 |
| Spinocerebellar Ataxia With Epilepsy |
|
Optic atrophy, Focal T2 hyperintense thalamic lesion, Gait ataxia, EEG with occipital epileptifor... |
ORPHA:254881 |
| Baker-Gordon Syndrome |
|
Self-injurious behavior, Inability to walk, EEG abnormality, Ataxia, Dystonia, Motor stereotypy, ... |
OMIM:618218 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Self-injurious behavior, Inability to walk, Chorea, Stereotypical hand wringing, EEG abnormality,... |
OMIM:618760 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hearing impairment, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:620270 |
| Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Focal motor seizure, Generalized non-motor (absence) seizure |
OMIM:615553 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, Hyperactivity, EEG abnormality |
ORPHA:436151 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Generalized myoclonic seizure |
ORPHA:79156 |
| Benign Occipital Epilepsy |
|
Focal impaired awareness seizure |
ORPHA:25968 |
| Fraxe Intellectual Disability |
|
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive... |
ORPHA:100973 |
| Developmental And Epileptic Encephalopathy 59 |
|
Self-injurious behavior, Inability to walk, Focal clonic seizure, Infantile spasms, Tonic seizure... |
OMIM:617904 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Myoclonic absence seizure, Generalized-onset seizure, Abnormal eating behavior, Eating-induced se... |
ORPHA:544254 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Generalized dystonia, Limb ataxia, Limb dystonia, Bradykinesia, Thalamic calcification |
OMIM:618824 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Gait disturbance, Bradykinesia, Dysphagia, Dysdiadochokinesis |
ORPHA:228169 |
| Ravine Syndrome |
|
Anorexia, Abnormal auditory evoked potentials, Ataxia |
ORPHA:99852 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Focal im... |
OMIM:619428 |
| Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... |
ORPHA:101046 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
| Bilateral Frontoparietal Polymicrogyria |
|
Typical absence seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic s... |
ORPHA:101070 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines |
OMIM:300495 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Hypsarrhythmia, Decreased thalamic volume, Dysphagia |
OMIM:613668 |
| Tubulinopathy-Associated Dysgyria |
|
Attention deficit hyperactivity disorder, Abnormal thalamus morphology, Ataxia |
ORPHA:467166 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral palsy, Chorea, Myoclonus, Re... |
OMIM:617600 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Generalized non-motor (absence) seizure, Self-mutilation, Polyphagia, Aggressive behavior, Hydroc... |
OMIM:616521 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea, Abnormal head movements |
OMIM:616939 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Seizure, Generalized non-motor (absence) seizure, Clumsiness, Aggressive behavior, Hydrocephalus,... |
OMIM:300558 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Inability to walk, Dystonia, Decreased thalamic volume |
OMIM:618646 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Torticollis, Ataxia |
ORPHA:71518 |
| Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral ... |
OMIM:619616 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal ataxia, Unsteady gait,... |
OMIM:616948 |
| Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Focal impaired awareness seizure, Seizure, Chorea, Complex febrile seizure... |
ORPHA:31709 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait,... |
ORPHA:423275 |
| Developmental And Epileptic Encephalopathy 110 |
|
Pain insensitivity, Spasticity, Continuous spike and waves during slow sleep, Generalized non-mot... |
OMIM:620149 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Shuffli... |
ORPHA:52368 |
| Episodic Ataxia Type 4 |
|
Incoordination, Abnormal head movements, Frequent falls, Ataxia |
ORPHA:79136 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Abnormal pinna morphology |
OMIM:300983 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:247100 |
| Cdkl5-Deficiency Disorder |
|
Impaired pain sensation, Difficulty walking, Bruxism, Inappropriate laughter, Stereotypical hand ... |
ORPHA:505652 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Generalized non-motor (absence) seizure, Seizure, Stereotypical hand wringing, Hypertonia, Bilate... |
OMIM:619854 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Focal T2 hyperintense thalamic lesion, Loss of ambulation, Dysphagia,... |
ORPHA:79264 |
| 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 |
| Huntington Disease-Like 1 |
|
Involuntary movements, Abnormal head movements, Incoordination, Chorea, Gait ataxia, Simultanapra... |
ORPHA:157941 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormality of the outer ear, Abnormal thalamus morphology, Sensorineural hearing impairment, Att... |
ORPHA:435638 |
| Developmental And Epileptic Encephalopathy 30 |
|
Hypsarrhythmia, Motor stereotypy |
OMIM:616341 |
| Developmental And Epileptic Encephalopathy 28 |
|
Spasticity, Generalized non-motor (absence) seizure, Seizure, Focal clonic seizure, Epileptic spa... |
OMIM:616211 |
| Unilateral Focal Polymicrogyria |
|
EEG with frontal focal spikes, Focal impaired awareness seizure, Seizure, Abnormality of somatose... |
ORPHA:268947 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Generalized-onset seizure, Loss of am... |
OMIM:620166 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Low-set ears, Abnormal thalamus morphology, Inability to walk, Normal pressure hydrocephalus, Sen... |
ORPHA:300570 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Inability to walk, Chorea, Gait ataxia, Stereotypical hand wringing, Com... |
OMIM:618917 |
| Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle, Resting tremor, Chorea, Dystonia, Attention deficit hyperactivity disord... |
OMIM:619725 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Dysphagia |
ORPHA:284271 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Neuroferritinopathy |
|
Blepharospasm, Arm dystonia, Resting tremor, Difficulty walking, Chorea, Leg dystonia, T2 hypoint... |
ORPHA:157846 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Low-set ears, Recurrent hand flapping, Gait ataxia, Posteriorly rotated ears, Impulsivity |
OMIM:619717 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Tongue fasciculations, Generalized non-motor (absence) seizure, Seizure, Dysmetria, Babinski sign... |
OMIM:618170 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, At... |
OMIM:617695 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Sensorineural hearing impairment, Focal T2 hyperintense thalamic lesion, Agitation, Ataxia |
OMIM:619046 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, EEG with continuous slow activity, Inappropriate behavior, Disinhibition, A... |
ORPHA:275864 |
| New-Onset Refractory Status Epilepticus |
|
EEG with frontal epileptiform discharges, EEG with generalized epileptiform discharges, Abnormal ... |
ORPHA:363558 |
| Seizures, Benign Familial Infantile, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni... |
OMIM:607745 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Low-set ears, Large fleshy ears, Gait ataxia, Tremor, Impaired tactile sensation, Ataxia, Overfol... |
OMIM:619092 |
| Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Focal impaired awareness seizure |
OMIM:616193 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Difficulty walking, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder, Ataxia |
OMIM:619191 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Spasticity, Myoclonic absence seizure, Seizure, Incoordination, Colpocephaly, Clonus, Tetraplegia... |
OMIM:616034 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Pill-rolling tremor, Impaired pain sensation, Inability to walk, Bruxism, I... |
ORPHA:3095 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Broad-based gait, Seizure, Gait imbalance, EEG with focal epileptiform discharges, Bilateral toni... |
ORPHA:98795 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... |
OMIM:613670 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbance, Dystonia, Restlessn... |
OMIM:600795 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait |
OMIM:617917 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Generalized non-motor (absence) seizure, Generalized-onset seizure, Bila... |
OMIM:615637 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Self-injurious behavior, Oculogyric crisis, Inability to walk, Bruxism, Chorea, Inappropriate lau... |
OMIM:614254 |
| Familial Focal Epilepsy With Variable Foci |
|
Interictal EEG abnormality, Paresthesia, Infantile spasms, Focal-onset seizure, Deja vu aura, Noc... |
ORPHA:98820 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Distal sensory im... |
OMIM:601382 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
| Benign Familial Neonatal Epilepsy |
|
Focal autonomic seizure, Neonatal seizure, Limb myoclonus, Focal clonic seizure, Generalized toni... |
ORPHA:1949 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Lopes-Maciel-Rodan Syndrome |
|
Bruxism, Tremor, Dystonia, Dysphagia, Unsteady gait, Bradykinesia, Motor stereotypy, Agitation |
OMIM:617435 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... |
OMIM:609129 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... |
OMIM:617519 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Optic atrophy, Oral-pharyngeal dysphagia, Difficulty walking, Inability to walk, Facial diplegia,... |
ORPHA:254930 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Inappropriate laughter, Stereotypical hand wringing, Gait disturbance, Hyperactivity, Ataxia, Thi... |
OMIM:614104 |
| Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
| Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
| Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
OMIM:612577 |
| Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia |
OMIM:615541 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Paucity of anterior horn motor neurons, Abnormal thala... |
ORPHA:79139 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Conductive hearing impairment, Inability to walk, Bruxism, Stereotypical hand wringing, Dystonia,... |
OMIM:618497 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Spasticity, Lateral ventricle dilatation, Hypsarrhythmia, Ataxia, Dysphagia, Motor stereotypy, Ge... |
OMIM:619229 |
| Intellectual Developmental Disorder, Autosomal Recessive 57 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure... |
OMIM:617188 |
| Rasmussen Subacute Encephalitis |
|
Hemiparesis, Bilateral tonic-clonic seizure with generalized onset, Focal motor seizure, Involunt... |
ORPHA:1929 |
| Huntington Disease-Like 3 |
|
Spasticity, Broad-based gait, Abnormal head movements, Extrapyramidal muscular rigidity, Chorea, ... |
ORPHA:157946 |
| Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
| Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Generalized non-motor (absence) seizure, Seizure, Inability to walk, Bruxism,... |
OMIM:300260 |
| Myoclonic Epilepsy, Familial Infantile |
|
Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... |
OMIM:605021 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Abnormal low... |
OMIM:602433 |
| Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure |
OMIM:616281 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Limb ataxia, Progressive gait ataxia, Abnormal pyramidal sign, Truncal a... |
ORPHA:247815 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy |
OMIM:618906 |
| Childhood Absence Epilepsy |
|
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, EEG with spike-wave complexes... |
ORPHA:64280 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Motor stereotypy |
OMIM:615282 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Somatic sensory dysfunction, Abnormal motor evoked potential... |
ORPHA:320401 |
| Foxg1 Syndrome |
|
Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wringing, Motor stereotypy, Dy... |
ORPHA:561854 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Optic atrophy, Motor stereotypy |
OMIM:619690 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:616033 |
| Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Acroparesthe... |
ORPHA:206443 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Atonic seizure, Generalized non-motor (absence) seizure, Bulimia, Bruxism, Stereotypical body roc... |
OMIM:300912 |
| Christianson Syndrome |
|
Inappropriate laughter, Gait ataxia, Motor stereotypy, Truncal ataxia, Dystonia, Dysphagia, Macrotia |
ORPHA:85278 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Dystonia, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait |
OMIM:301107 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Dysphagia, Amyotrophic lateral sclerosis, Disinhibition |
OMIM:612069 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Focal hemiclonic seizure, Hypsarrhythmia, Dysphagia, EEG with generalized epileptiform discharges... |
OMIM:616973 |
| Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Low-set ears, Posteriorly rotated ears, Recurrent hand flapping |
OMIM:618147 |
| Lafora Disease |
|
Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Foca... |
ORPHA:501 |
| Hyperprolinemia Type 2 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure... |
ORPHA:79101 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
| Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple feb... |
OMIM:617935 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620065 |
| Developmental And Epileptic Encephalopathy 42 |
|
Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, EEG abnormality, Hyperto... |
OMIM:617106 |
| Cach Syndrome |
|
Optic atrophy, Limb ataxia, Dysmetria, T2 hypointense thalamus, Truncal ataxia, Dysphagia |
ORPHA:135 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Optic atrophy, Bruxism, Self-mutilation, Tremor, Ataxia, Bilateral sensorineural hearing impairme... |
OMIM:619422 |
| Spinocerebellar Ataxia 44 |
|
Spasticity, Gait ataxia, Dysmetria, Dysphagia, Ataxia, Frequent falls, Dysdiadochokinesis |
OMIM:617691 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Smith-Magenis Syndrome |
|
Pain insensitivity, Abnormal nerve conduction velocity, Abnormality of the outer ear, Head-bangin... |
OMIM:182290 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Optic disc p... |
ORPHA:485421 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Aggressive behavior, Hyperactivi... |
ORPHA:500180 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... |
ORPHA:240103 |
| Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Dysphagia, Motor stereotypy, Macrotia |
DECIPHER:45 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
| Spinocerebellar Ataxia Type 10 |
|
EEG with generalized epileptiform discharges, Focal impaired awareness seizure, Generalized-onset... |
ORPHA:98761 |
| 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 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Compulsive behaviors, Low-set ears, Attention deficit hyperactivity disorder, Abnormal thalamus m... |
ORPHA:404440 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis |
OMIM:614373 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Difficulty walking, Motor stereotypy |
OMIM:617393 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Optic nerve hypoplasia, Somatic sensory dysfunction, Impaired pain ... |
ORPHA:101085 |
| Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
| Angelman Syndrome |
|
Broad-based gait, Polyphagia, Ataxia, Atypical absence seizure, Dysphagia, Self-injurious behavio... |
ORPHA:72 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Hyperactivity |
OMIM:618090 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Spasticity, Generalized non-motor (absence) seizure, Seizure, Inability ... |
ORPHA:457351 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Hearing impairment, Inability to walk, Hypsarrhythmia, Motor stereotypy, Macrotia |
OMIM:619877 |
| Hartnup Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia |
OMIM:234500 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Difficulty walking, Dystonia, Motor stereotypy, Waddling gait |
ORPHA:280763 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... |
OMIM:618013 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Low-set ears, Bruxism, Tremor, Sensorineural hearing impairment, Protruding ear, Aggressive behav... |
OMIM:618342 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Optic atrophy, Focal T2 hyperintense thalamic lesion, Hearing impairment |
OMIM:619057 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Hyperactivity, Tremor, Ataxia |
OMIM:615924 |
| Acute Disseminated Encephalomyelitis |
|
Ataxia, Somatic sensory dysfunction, Interictal EEG abnormality, EEG with focal slow activity, Ag... |
ORPHA:83597 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
| Harel-Yoon Syndrome |
|
Inability to walk, Spasticity, Generalized non-motor (absence) seizure, Ataxia |
OMIM:617183 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Seizure, Generalized-onset seizure, Interictal EEG abnormality, Chorea, Myoclonus, Dy... |
ORPHA:79263 |
| Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
| Periventricular Nodular Heterotopia 7 |
|
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Hypsarrhythmia, Ataxia |
OMIM:617201 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Optic atrophy, Broad-based gait, Prominent antihelix, Difficulty walking, Gait ataxia, Dystonia, ... |
OMIM:617807 |
| Myoclonic Epilepsy Of Lafora 1 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... |
OMIM:254780 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Dis... |
OMIM:601455 |
| Tay-Sachs Disease |
|
Optic atrophy, Hearing impairment, Laryngeal dystonia, Inability to walk, Dysmetria, Tremor, Gait... |
ORPHA:845 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Self-mutilation, Tremor, Gait disturbance,... |
ORPHA:457240 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Broad-based gait, Tongue thrusting, Gait ataxia, Intention tremor |
OMIM:620393 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, EEG abnormality, At... |
OMIM:610042 |
| Liang-Wang Syndrome |
|
Status epilepticus, Generalized non-motor (absence) seizure, Ataxia |
OMIM:618729 |
| Early Infantile Epileptic Encephalopathy |
|
Spasticity, Hypsarrhythmia, Choreoathetosis, Self-injurious behavior, Generalized non-motor (abse... |
ORPHA:1934 |
| Optic Atrophy 11 |
|
Optic atrophy, Hearing impairment, EEG with focal sharp waves, Stereotypical body rocking, Facial... |
OMIM:617302 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines |
OMIM:608049 |
| Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Inability to walk, Bruxism, Chorea, Paroxysmal dystonia, Dystonia, Motor... |
OMIM:618004 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude |
OMIM:606353 |
| Pick Disease Of Brain |
|
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition |
OMIM:172700 |
| Rett Syndrome |
|
Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wringing, Dystonia, Gait distu... |
ORPHA:778 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Shuffling gait, Resting tremor, Bruxism, Tremor, Dystonia, EEG with generalized slow acti... |
OMIM:300055 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Facial diplegia |
OMIM:611890 |
| Lissencephaly Due To Lis1 Mutation |
|
Focal impaired awareness seizure, Seizure, Infantile spasms, EEG with spike-wave complexes, EEG w... |
ORPHA:95232 |
| Juvenile Huntington Disease |
|
Broad-based gait, Chorea, Gait ataxia, Dystonia, Hyperactivity, Ataxia, Bradykinesia, Progressive... |
ORPHA:248111 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Low-set ears, Decreased thalamic volume |
OMIM:619072 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal temper tantrums, EEG with generalized epileptiform discharges, EEG with generalized slow... |
ORPHA:163681 |
| Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
| Lamb-Shaffer Syndrome |
|
Optic atrophy, Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy |
ORPHA:530983 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hearing impairment, Inability to walk, Gait ataxia, Recurrent hand flapping, Aggressive behavior,... |
OMIM:619580 |
| Shukla-Vernon Syndrome |
|
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy... |
OMIM:301029 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity, Macrotia |
OMIM:300928 |
| Intellectual Developmental Disorder, Autosomal Dominant 74 |
|
Bilateral tonic-clonic seizure, Motor tics, Typical absence seizure, Hypertonia |
OMIM:620688 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Low-set ears, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperacti... |
ORPHA:352490 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se... |
OMIM:619835 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
| Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... |
OMIM:301101 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Continuous spike and waves during slow sleep, Hyperacti... |
OMIM:301008 |
| Panhypophysitis |
|
Secondary growth hormone deficiency, Polydipsia, Increased circulating prolactin concentration, P... |
ORPHA:95513 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, Ataxia, Motor ... |
ORPHA:228402 |
| Fragile X Syndrome |
|
Abnormal head movements, Recurrent hand flapping, Hyperactivity, Self-biting, Macrotia |
OMIM:300624 |
| Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities |
|
Low-set ears, Chorea, Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter,... |
OMIM:620445 |
| Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Dysphagia |
OMIM:614229 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Autonomic bladder dysfunction, Action tremor, Distal sensory impairment, Sensorineural hearing im... |
ORPHA:99027 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor stereotypy, M... |
OMIM:620292 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Spastic paraparesis, Generalized non-motor (absence) seizure, Seizure, Focal-onset seizure, Hemip... |
ORPHA:395 |
| Chromosome 2Q37 Deletion Syndrome |
|
Pain insensitivity, Self-injurious behavior, Stereotypical hand wringing, Sensorineural hearing i... |
OMIM:600430 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:608030 |
| Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm... |
OMIM:609270 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Focal EEG disch... |
ORPHA:3077 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
| 7Q31 Microdeletion Syndrome |
|
Low-set ears, Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Enlarge... |
ORPHA:251061 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myelomeningocele, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity ... |
OMIM:620141 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
| Mannosidosis, Beta A, Lysosomal |
|
Aggressive behavior, Hyperactivity, Hearing impairment |
OMIM:248510 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Self-injurious behavior, Recurrent hand flapping, EEG abnormality, Dystonia, Macrotia |
OMIM:617268 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Attention deficit hyperactivity disorder, Typical absence seizure, Dysphagia, Seizure |
ORPHA:576283 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Abnormal vestibular function, Gait ataxia, Positive Romberg sign, I... |
ORPHA:70595 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Absence seizure with eyelid myoclonia, Eyelid myoclonus, Generalized non-motor (absence) seizure,... |
OMIM:613839 |
| Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Generalized non-motor (absence) seizure, Focal-onset seizure, Attention ... |
OMIM:618354 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Bruxism, Hyperactivity |
OMIM:300434 |
| Oculoskeletodental Syndrome |
|
Abnormal thalamus morphology, Conductive hearing impairment, Hearing impairment, Sensorineural he... |
ORPHA:557003 |
| Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Fusion of the left and right thalami, Aganglionic megacolon, H... |
ORPHA:59315 |
| Nicolaides-Baraitser Syndrome |
|
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure |
ORPHA:3051 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
