Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Seizure, Abnormality of extrapyram... |
OMIM:614561 |
Autism, Susceptibility To, X-Linked 4 |
|
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior |
OMIM:300830 |
Autosomal Dominant Focal Dystonia, Dyt25 Type |
|
Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,... |
ORPHA:329466 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Dystonia 30 |
|
Torticollis, Writer's cramp, Impulsivity, Aggressive behavior, Leg dystonia, Seizure, Arm dystoni... |
OMIM:619291 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Confusion, Paralysis, Babinski sign, Paroxysmal lethargy, Choreoathe... |
OMIM:606777 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Co... |
ORPHA:401901 |
Dystonia 4, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Dysphagia, Gait ataxia, Limb d... |
OMIM:128101 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... |
ORPHA:599373 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Respiratory insufficiency |
OMIM:611369 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Generalized no... |
ORPHA:98811 |
Landau-Kleffner Syndrome |
|
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, Bilate... |
ORPHA:98818 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Restlessness, Dystonia, Ataxia, Confusion, Infantile spasms, Spastic tetraplegia, Seizure, Irrita... |
ORPHA:263410 |
Dystonia 25 |
|
Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia |
OMIM:615073 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Alternating Hemiplegia Of Childhood 2 |
|
Episodic quadriplegia, Ataxia, Mental deterioration, Tetraplegia, Choreoathetosis, Seizure, Statu... |
OMIM:614820 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Axial hypotonia, Ataxia, Focal motor status epilepticus, Aggressive behavior, Focal-onset seizure... |
OMIM:619150 |
Dystonia With Cerebellar Atrophy |
|
Torticollis, Dysphagia, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia |
OMIM:611694 |
Dystonia 33 |
|
Axial dystonia, Axial hypotonia, Dystonia, Babinski sign, Limb dystonia, Neonatal seizure, Spasti... |
OMIM:619687 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2 |
|
Rigidity, Sensory ataxia, Dementia, Difficulty walking, Dystonia, Mental deterioration |
OMIM:619661 |
Autosomal Recessive Spastic Paraplegia Type 56 |
|
Babinski sign, Spastic paraplegia, Unsteady gait, Tip-toe gait, Cognitive impairment, Dystonia, S... |
ORPHA:320411 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum |
|
Babinski sign, Cogwheel rigidity, Hypertonia, Attention deficit hyperactivity disorder, Dystonia,... |
OMIM:618284 |
Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... |
OMIM:607208 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Seizure, Ataxia, Hypotonia |
OMIM:213000 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum |
|
Unsteady gait, Babinski sign, Spastic paraplegia, Tip-toe gait, Cognitive impairment, Dystonia |
OMIM:615030 |
Epilepsy, Nocturnal Frontal Lobe, 4 |
|
Confusion, Nocturnal seizures, Dystonia |
OMIM:610353 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Dementia, Myoclonus, Dystonia |
OMIM:125370 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Confusion, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Seizure, Hypertonia... |
ORPHA:71277 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... |
ORPHA:251282 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par... |
ORPHA:216873 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Large for gestational age, Hypotonia, Seizure, Bruxism, Spast... |
ORPHA:356996 |
Dystonia 6, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Limb dystonia, Oromandibular dystonia, Lingual dys... |
OMIM:602629 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive... |
ORPHA:248111 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Tetraparesis, Myoclonus, Dystoni... |
OMIM:615924 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Generalized-onset seizure, Inability to walk, Babinski sign, Spastic tetraplegia, ... |
OMIM:616657 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... |
OMIM:615369 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Cachexia, Tremor, Chorea, Babinski sign, Dy... |
OMIM:618093 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior, Hypotonia, Seizure, Generalized hypotonia, Bruxism, Spasticity |
OMIM:615493 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... |
OMIM:213600 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Confusion, Tremor, Hemiparesis, Seizure, Agitation, Hemiplegia |
OMIM:141500 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Chorea, Hypotonia, At... |
ORPHA:382 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Sandhoff Disease, Adult Form |
|
Tremor, Dysphagia, Gait ataxia, Focal dystonia, Fasciculations, Dystonia, Mental deterioration, S... |
ORPHA:309169 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure, Depression, Genera... |
ORPHA:71517 |
Huntington Disease-Like 2 |
|
Involuntary movements, Parkinsonism, Chorea, Weight loss, Dementia, Gait disturbance, Dystonia, M... |
ORPHA:98934 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Seizure, Shuf... |
OMIM:615528 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Confusion, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski sign, Ga... |
OMIM:615362 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,... |
OMIM:607682 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Progressive neurologic deterioration, Tremor, Hypotonia, Dysphagia, Choreoathetosis, Seizure, Irr... |
OMIM:261630 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Spastic Ataxia 1, Autosomal Dominant |
|
Spastic ataxia, Dystonia, Spastic paraplegia, Gait disturbance, Dysphagia, Memory impairment |
OMIM:108600 |
Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Dystonia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic s... |
ORPHA:725 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Dementia, Abnormality of extrapyram... |
ORPHA:79262 |
Spinocerebellar Ataxia Type 28 |
|
Limb dystonia, Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait... |
ORPHA:101109 |
Spinocerebellar Ataxia 17 |
|
Chorea, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Parkinsonism, Confusion, Depression, Se... |
OMIM:607136 |
Female Restricted Epilepsy With Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... |
OMIM:609446 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... |
OMIM:617831 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Abnormal circulating enzyme concentration ... |
ORPHA:2590 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic s... |
OMIM:617113 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkineti... |
OMIM:618425 |
Juvenile Myoclonic Epilepsy |
|
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... |
ORPHA:307 |
Huntington Disease |
|
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass index, Clums... |
ORPHA:399 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Writer's cramp, Depression, Myoclonus, Compulsive behaviors, Dystonia, Spinal myoclo... |
ORPHA:36899 |
Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Ataxia, Focal motor seizure, Generalized non-motor (absence) seizure, Myoclonic... |
OMIM:617665 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:614018 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 |
|
Axial hypotonia, Infantile spasms, Tonic seizure, Spastic tetraplegia, Seizure, Focal clonic seiz... |
OMIM:251280 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
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 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Choreoathetosis, Familial Inverted |
|
Rigidity, Abnormal pyramidal sign, Seizure, Dementia, Gait disturbance, Progressive choreoathetosis |
OMIM:118750 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... |
OMIM:616346 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Mental d... |
ORPHA:2382 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... |
OMIM:617391 |
Dystonia 32 |
|
Limb dystonia, Torticollis, Laryngeal dystonia, Dysphagia |
OMIM:619637 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Axial hypotonia, Focal-onset seizure, Chorea, Inability to walk, Self-injurious behavior, Convuls... |
OMIM:618760 |
Primary Dystonia, Dyt17 Type |
|
Torticollis, Generalized dystonia, Craniofacial dystonia |
ORPHA:370103 |
Dystonia, Early-Onset, And/Or Spastic Paraplegia |
|
Laryngeal dystonia, Spastic paraplegia, Difficulty walking, Dystonia |
OMIM:619681 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Seizure, Compulsi... |
OMIM:301107 |
Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... |
OMIM:615871 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Seizure, Myoclonus, Difficulty walking, Dystonia, Lethargy, Spasticity |
OMIM:617829 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Cognitive ... |
OMIM:617284 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia... |
OMIM:607317 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... |
ORPHA:314632 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Axial hypotonia, Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive |
OMIM:619651 |
Developmental And Epileptic Encephalopathy 19 |
|
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal impai... |
OMIM:615744 |
Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Seizure, Paroxysmal choreoathetosis, Infantile spasms |
OMIM:128200 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Generalized dystonia, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Seizure, ... |
OMIM:618824 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Hypotonia, Depression, Myoclonus, Compulsive behaviors |
OMIM:159900 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Ataxia, Progressive neurologic deterioration, Abnormal pyramidal sign, Cognitive impairment, Dyst... |
OMIM:619196 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Tonic seiz... |
OMIM:617389 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis, Dysphagia |
OMIM:118800 |
3-Methylglutaconic Aciduria Type 1 |
|
Spastic tetraparesis, Progressive cerebellar ataxia, Seizure, Dystonia, Failure to thrive |
ORPHA:67046 |
Developmental And Epileptic Encephalopathy 57 |
|
Epileptic spasm, Tonic seizure, Seizure, Atypical absence seizure, Generalized myoclonic seizure |
OMIM:617771 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Dystonia, Ataxia, Seizure, Cognitive impairment, Dysphagia |
ORPHA:1171 |
Spinocerebellar Ataxia 14 |
|
Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Depression, Attention defi... |
OMIM:605361 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Seizure, Dy... |
OMIM:612716 |
Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey... |
OMIM:616421 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure |
OMIM:618596 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, G... |
ORPHA:36387 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, Mental ... |
ORPHA:86909 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener... |
OMIM:619157 |
Paroxysmal Kinesigenic Dyskinesia |
|
Involuntary movements, Writer's cramp, Chorea, Athetosis, Seizure, Dystonia, Focal sensory seizure |
ORPHA:98809 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Paroxysmal... |
OMIM:602066 |
Epilepsy, Progressive Myoclonic 7 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus, Mental deterioration |
OMIM:616187 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
Developmental And Epileptic Encephalopathy 97 |
|
Epileptic spasm, Tremor, Inability to walk, Hypotonia, Seizure, Stereotypical hand wringing |
OMIM:619561 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidity, Inability to walk... |
OMIM:618090 |
Rabies |
|
Cerebral palsy, Anorexia, Depression, Seizure, Paresthesia, Attention deficit hyperactivity disor... |
ORPHA:770 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Axial hypotonia, Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, F... |
OMIM:616921 |
Dystonia 17, Torsion, Autosomal Recessive |
|
Torticollis, Focal dystonia |
OMIM:612406 |
Hartnup Disorder |
|
Hyperactivity, Seizure, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Em... |
OMIM:234500 |
Lissencephaly 10 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:618873 |
Dystonia 16 |
|
Limb dystonia, Generalized dystonia, Postural tremor, Involuntary movements, Parkinsonism, Abnorm... |
OMIM:612067 |
Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hy... |
OMIM:619970 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Weight loss, Deme... |
OMIM:606438 |
Segawa Syndrome, Autosomal Recessive |
|
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... |
OMIM:605407 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Athetosis, Seizure, Complex ... |
ORPHA:31709 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Ataxia, Babinski sign, Hypotonia, Dysmetria, Dysphagia, Choreoathetosis, Seizure, Positive Romber... |
OMIM:618088 |
Episodic Ataxia, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... |
OMIM:618924 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Depression, Arm dystonia, Diffi... |
OMIM:619565 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure |
OMIM:616409 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst... |
OMIM:104290 |
Hemidystonia-Hemiatrophy Syndrome |
|
Dystonia, Babinski sign, Abnormal pyramidal sign, Hemiparesis, Seizure, Limb dystonia |
ORPHA:306741 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure |
OMIM:619964 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Rigidity, Oromandibular dystonia, Spastic tetraplegia, Depression, Bradykinesia, Tip-to... |
OMIM:615643 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity |
OMIM:611105 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Hypotonia, Obesity, Limb dystonia |
OMIM:620270 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Axial hypotonia, Ataxia, Parkinsonism, Progressive neurologic deterioration, Small for gestationa... |
OMIM:261640 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment |
OMIM:617018 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Involuntary movements, Inability to walk, Hypotonia, Seizure, Self-injurious behavior, Dystonia, ... |
OMIM:617820 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
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 6B |
|
Epileptic spasm, Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal he... |
OMIM:619317 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Axial hypotonia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Hypot... |
OMIM:616139 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia, Emotional l... |
OMIM:128235 |
Rolandic Epilepsy |
|
Short attention span, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal ... |
ORPHA:1945 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Epileptic spasm, Severe muscular hypotonia, Oculogyric crisis, Inability to walk, Chorea, Hypoton... |
OMIM:614254 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Rigid... |
OMIM:612736 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Gait disturbance, Cognitiv... |
ORPHA:542310 |
Leukodystrophy, Hypomyelinating, 25 |
|
Hypotonia, Gait ataxia, Seizure, Diminished ability to concentrate, Dystonia |
OMIM:620243 |
Striatonigral Degeneration, Childhood-Onset |
|
Unsteady gait, Hypotonia, Dysphagia, Ankle clonus, Hypertonia, Steppage gait, Dystonia, Loss of a... |
OMIM:617054 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Hypotonia, S... |
ORPHA:208441 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... |
OMIM:618587 |
Developmental And Epileptic Encephalopathy 44 |
|
Axial hypotonia, Infantile spasms, Athetosis, Seizure, Irritability, Dystonia, Spasticity, Failur... |
OMIM:617132 |
Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... |
OMIM:618482 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Severe muscular hypotonia, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosi... |
OMIM:233910 |
Atypical Rett Syndrome |
|
Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Seizure, Abnorma... |
ORPHA:3095 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Difficulty wal... |
ORPHA:85292 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Upper limb s... |
OMIM:618418 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Hypotonia, Obe... |
OMIM:616756 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Primary Dystonia, Dyt21 Type |
|
Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst... |
ORPHA:306734 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal sign, Dysphagia, Se... |
OMIM:617672 |
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome |
|
Paroxysmal dystonia, Seizure, Focal hemifacial clonic seizure, Writer's cramp |
ORPHA:163727 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... |
OMIM:604326 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Chorea, Focal-onset seizure, Inabi... |
OMIM:618917 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to ... |
ORPHA:500180 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Generalized-onset seizure, Ataxia, Dystonia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness... |
ORPHA:79263 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Short attention span, Ataxia, Bilateral tonic-clonic seizure with generali... |
OMIM:619028 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Generalized dystonia, Inability to walk, Hypotoni... |
OMIM:619389 |
Developmental And Epileptic Encephalopathy 7 |
|
Seizure, Hypotonia, Spastic tetraparesis, Dystonia |
OMIM:613720 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, ... |
OMIM:614487 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Hypotonia, Bru... |
OMIM:618497 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
3-Methylglutaconic Aciduria, Type I |
|
Short attention span, Ataxia, Spastic tetraplegia, Athetosis, Dementia, Cognitive impairment, Dys... |
OMIM:250950 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure |
OMIM:612437 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Dementia, Myoclo... |
OMIM:254800 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Inability to walk... |
ORPHA:330050 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
Kufor-Rakeb Syndrome |
|
Tremor, Hypertonia, Ataxia, Parkinsonism, Seizure, Gait disturbance, Myoclonus, Torticollis, Aggr... |
OMIM:606693 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Ataxia, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Generaliz... |
OMIM:618224 |
Paroxysmal Nonkinesigenic Dyskinesia 2 |
|
Paroxysmal dystonia, Seizure |
OMIM:611147 |
Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Axial hypotonia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic s... |
OMIM:620145 |
N-Acetylaspartate Deficiency |
|
Short attention span, Broad-based gait, Unsteady gait, Seizure, Generalized hypotonia, Truncal at... |
OMIM:614063 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... |
OMIM:617350 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Hyperactivity, Broad-based gait, Parkinsonism, Anorexia, A... |
ORPHA:3077 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:22 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Rigidity, Frontotemporal dementia, Babinski sign, Inappropriat... |
OMIM:600795 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Dystonia |
OMIM:620245 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Generalized hypotonia, Dy... |
OMIM:617836 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hypotonia, Seizure, Status epilepticus, Generalized h... |
OMIM:239500 |
Foxg1 Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to walk, Hypoton... |
ORPHA:561854 |
Raynaud-Claes Syndrome |
|
Lower limb spasticity, Aggressive behavior, Hypotonia, Depression, Seizure, Progressive cerebella... |
OMIM:300114 |
Jeavons Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... |
ORPHA:139431 |
Developmental And Epileptic Encephalopathy 69 |
|
Axial hypotonia, Inability to walk, Spastic tetraplegia, Hyperkinetic movements, Status epileptic... |
OMIM:618285 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
ORPHA:79137 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor tics, Resting tremor, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Chorea, Cogwhee... |
OMIM:619725 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Bilateral tonic-clonic seizure, Failure to thrive in infancy, Babinski sign, Spastic dipl... |
OMIM:619065 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Hypotonia, Dysphagia, Opisthot... |
ORPHA:13 |
Primary Dystonia, Dyt6 Type |
|
Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary... |
ORPHA:98806 |
Microcephaly, Seizures, And Developmental Delay |
|
Seizure, Hyperactivity, Ataxia, Hypotonia |
OMIM:613402 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Continuous spike and waves during slow sleep, Seizure, Attention defi... |
OMIM:301008 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, D... |
OMIM:618317 |
Striatonigral Degeneration, Infantile |
|
Dystonia, Choreoathetosis, Dysphagia, Spasticity, Failure to thrive |
OMIM:271930 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Depression, Bradykinesia, Falls, Dystonia, Mental deterioration, Memory impairm... |
ORPHA:240085 |
Dravet Syndrome |
|
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... |
ORPHA:33069 |
Lopes-Maciel-Rodan Syndrome |
|
Axial hypotonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Dysphagia, Bradykinesia... |
OMIM:617435 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Lower limb spasticity, Dystonia, Ataxia, Clonic seizure, Hypotonia, Gait ataxia, Seizure, Gait di... |
OMIM:614458 |
Huntington Disease-Like 3 |
|
Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal mo... |
OMIM:604802 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Hypotonia, Paroxysmal cho... |
OMIM:500003 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par... |
ORPHA:53583 |
Developmental And Epileptic Encephalopathy 99 |
|
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Broad-based gait, Axial hypotonia, Dystonia, Parkinsonism, Oculogyric crisis, Bradykinesia, Hyper... |
OMIM:617384 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Myoclonic seizure, Depression, Seizure, Dem... |
OMIM:162350 |
Spinocerebellar Ataxia Type 26 |
|
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... |
ORPHA:101112 |
Familial Infantile Bilateral Striatal Necrosis |
|
Failure to thrive, Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Dysphagia, Ga... |
ORPHA:225154 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Febrile Seizures, Familial, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:611634 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor... |
OMIM:271980 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Seizure, Dementia, S... |
ORPHA:329284 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Depression, Myoclonus, Attention deficit hyper... |
OMIM:619191 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... |
OMIM:608105 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Axial hypotonia, Ataxia, Hypotonia, Spasticity, Irritability, Falls, Generalized hypotonia, Dysto... |
OMIM:619224 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Chorea, Abnormal pyramidal sign, Opisthotonus, Gait ataxia, Hypertonia, Confusion, Seizure, Crani... |
OMIM:607483 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Focal motor seizure, Cognit... |
ORPHA:1929 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Falls... |
OMIM:203740 |
Huntington Disease-Like 3 |
|
Psychomotor deterioration, Broad-based gait, Extrapyramidal muscular rigidity, Dystonia, Chorea, ... |
ORPHA:157946 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Hypotonia, Dysmetria, Seizure, Irritability, Myoclonus, Trunca... |
OMIM:250620 |
Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... |
ORPHA:65683 |
Leukodystrophy, Hypomyelinating, 16 |
|
Broad-based gait, Abnormal pyramidal sign, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Se... |
OMIM:617964 |
Cln5 Disease |
|
Hyperactivity, Abnormal central motor function, Ataxia, Generalized-onset seizure, Aggressive beh... |
ORPHA:228360 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Restlessness, Axial hypotonia, Ataxia, Inability to walk, Athetosis, Abnormality of extrapyramida... |
OMIM:615159 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Ataxia, Inability to walk, Hypotonia, Dysmetria, Seizure, Dystonia, Spasticity, Failure to thrive |
OMIM:617954 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Dementia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Hypotonia, Se... |
OMIM:619470 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... |
OMIM:606159 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Late... |
ORPHA:101071 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Chorea, Uns... |
ORPHA:485350 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Small for gestat... |
OMIM:245570 |
Alzheimer Disease 3 |
|
Dystonia, Spastic tetraparesis, Babinski sign, Dysphagia, Seizure, Dementia, Abnormality of extra... |
OMIM:607822 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, Hyperactivity, Atax... |
ORPHA:168491 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Generalized dystonia, Ataxia, Rigidity, Focal motor seizure, Hypotonia, Seizure, Gait disturbance... |
OMIM:618239 |
Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb... |
OMIM:613855 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia |
ORPHA:217012 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia |
OMIM:605909 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Obesity, Hyperphagia, And Developmental Delay |
|
Seizure, Generalized non-motor (absence) seizure, Obesity |
OMIM:613886 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Clonus, Spastic paraplegia, Lower limb hypertonia, Gait disturbance... |
OMIM:614898 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Seizure, Spasticity |
OMIM:300983 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... |
ORPHA:98810 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Neuromuscular dysphagia, Loss of ambulation, Ataxia, Clumsiness, Impaired tactile sensati... |
ORPHA:206443 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Ataxia, Inability to walk, Hypotonia, Tongue fasciculations, Tetraparesis, Dystonia, Spasticity, ... |
OMIM:618276 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Dysphagia, Athet... |
OMIM:617493 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... |
OMIM:615006 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br... |
ORPHA:210571 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Seizure, Generalized hypotonia, Dystonia |
OMIM:616763 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Axial hypotonia, Choreoathetosis, Irritability, Dystonia, Spasticity |
OMIM:614249 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Axial hypotonia, Ataxia, Tremor, Seizure, Failure to thrive |
OMIM:618951 |
Developmental And Epileptic Encephalopathy 17 |
|
Inability to walk, Chorea, Focal tonic seizure, Athetosis, Dystonia, Generalized tonic seizure |
OMIM:615473 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic paraplegia, Dysmetria... |
OMIM:612319 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Depression, Dementia, Myoclonus, Men... |
OMIM:204300 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:612621 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Seizure, Irritability, Dystonia |
OMIM:612126 |
Dystonia 9 |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Cognitive impairment, ... |
OMIM:601042 |
Torsion Dystonia With Onset In Infancy |
|
Torsion dystonia |
OMIM:602554 |
Dystonia, Focal, Task-Specific |
|
Writer's cramp |
OMIM:611284 |
Dystonia 35, Childhood-Onset |
|
Dystonia |
OMIM:619921 |
16P11.2P12.2 Microduplication Syndrome |
|
Seizure, Attention deficit hyperactivity disorder, Dystonia |
ORPHA:261204 |
Spinocerebellar Ataxia Type 11 |
|
Dystonia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Gait imbalance, Difficulty walk... |
ORPHA:98767 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Co... |
OMIM:615157 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure |
OMIM:619000 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Axial hypotonia, Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal py... |
OMIM:613135 |
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 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Hypotonia, Dysmetria, Seizure, Tip-toe gait, Focal impaired awareness seizure, Dystonia, Spasticity |
OMIM:251950 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Bilateral tonic-clonic seizure, Akinesia, Rigidity... |
OMIM:619911 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... |
ORPHA:208447 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Cognitive impairment |
OMIM:238700 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria, Dysphagia, Dystonia... |
OMIM:617916 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Paralysis, Frontotemporal dementia, Dysphagia, Athetosis, Dystonia |
OMIM:300857 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Axial hypotonia, Oculogyric crisis, Small for gestational age, Tremor, Rigidity, ... |
ORPHA:70594 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski... |
OMIM:617225 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls |
OMIM:619647 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lower limb spasticity, Babinski sign, Upper limb spasticity, Dystonia, Spastic gait |
OMIM:619966 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Si... |
ORPHA:1942 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:603204 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Dysmetria, Gait ataxia, Limb ataxi... |
OMIM:617145 |
Leukodystrophy, Hypomyelinating, 2 |
|
Axial hypotonia, Ataxia, Dystonia, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Sei... |
OMIM:608804 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Lower limb spasticity, Short attention span, Broad-based gait, Ataxia, Impulsivity,... |
OMIM:617854 |
Folinic Acid-Responsive Seizures |
|
Broad-based gait, Ataxia, Spastic tetraparesis, Clonic seizure, Chorea, Seizure, Irritability, Hy... |
ORPHA:79097 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... |
ORPHA:309246 |
Developmental And Epileptic Encephalopathy 16 |
|
Severe muscular hypotonia, Clonic seizure, Hypotonia, Hemiparesis, Abnormality of extrapyramidal ... |
OMIM:615338 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Seizure, D... |
OMIM:300894 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... |
OMIM:615400 |
Pelizaeus-Merzbacher Disease |
|
Writer's cramp, Tremor, Abnormal pyramidal sign, Choreoathetosis, Intention tremor, Ataxia, Depre... |
OMIM:312080 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Restlessness, Bilateral tonic-clonic seizure, Irritability, Focal impaired awareness seizure, Men... |
OMIM:610003 |
Xeroderma Pigmentosum, Complementation Group G |
|
Ataxia, Small for gestational age, Infantile spasms, Tremor, Spasticity |
OMIM:278780 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Unsteady gait, Hypotonia, Abnormality of extrapyramidal motor function, Dy... |
OMIM:302500 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Memory impairment, Seizure, Generalized non-motor (absence) seizure, Aggressive behavior |
OMIM:247100 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Nonpr... |
ORPHA:453521 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Hsd10 Disease |
|
Short attention span, Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Seizure, Gait disturb... |
ORPHA:391417 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act... |
OMIM:616540 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Progressive neurologic deterioration, Tremor, Dy... |
ORPHA:254881 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Hypotonia, Progressive cerebellar ataxia, Seizure, Myoclonus, Dy... |
ORPHA:139485 |
Leukodystrophy, Hypomyelinating, 18 |
|
Babinski sign, Spastic tetraplegia, Dysmetria, Seizure, Progressive spasticity, Dystonia, Spastic... |
OMIM:618404 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Ataxia, Babinski sign, Hand tremor, Depression, Dementia, Apraxia, Spasticity |
OMIM:615889 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, D... |
OMIM:609195 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... |
OMIM:613908 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:619338 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ... |
OMIM:272750 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Difficulty walking, Paralysis |
OMIM:608634 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal at... |
OMIM:615768 |
Posttransplant Acute Limbic Encephalitis |
|
Ataxia, Confusion, Depression, Seizure, Myoclonus, Cognitive impairment, Dystonia, Memory impairment |
ORPHA:163921 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Myoclonic se... |
OMIM:617711 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7 |
|
Focal-onset seizure, Hypotonia, Seizure, Dystonia, Refractory status epilepticus |
OMIM:620359 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Dystonia, Ataxia, Unsteady gait, Hypotonia, Dysmetria, Clumsiness, Gait ataxia,... |
OMIM:616127 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Restlessness, Axial hypotonia, Ataxia, Parkinsonism, Facial hypotonia, Dystonia, ... |
OMIM:300055 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysmetria, Dysph... |
ORPHA:313772 |
Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Tremor, Hypotonia, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age... |
OMIM:616366 |
Blepharonasofacial Malformation Syndrome |
|
Torsion dystonia |
OMIM:110050 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Facial hypotonia, Overweight, Babinski sign, Hypotonia, Spastic dysarthria, Seizur... |
ORPHA:280763 |
Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Parkinsonism, Aggressive behavio... |
OMIM:200150 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ankle clonus, Bradykin... |
ORPHA:521406 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Generalized myoclonic seizure, Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramida... |
ORPHA:352596 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... |
OMIM:618218 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Porphyria, Acute Hepatic |
|
Paralysis, Hypotonia, Respiratory paralysis, Paresthesia, Failure to thrive |
OMIM:612740 |
Epilepsy, Familial Temporal Lobe, 4 |
|
Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features |
OMIM:611631 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Waddling gait, Overweight, Inability to walk, Babinski sign, Spastic paraplegia, Seizure, Hyperto... |
OMIM:614066 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Hyperprolinemia Type 2 |
|
Early onset absence seizures, Short attention span, Abnormal circulating enzyme concentration or ... |
ORPHA:79101 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Incoordination, Ataxia, Dystonia, Episodic generalized hypotonia, Hypotonia, Dysmetria, Gait atax... |
OMIM:601338 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Dystonia |
OMIM:611031 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Ataxia, Athetosis, Seizure, Dystonia, Spasticity |
OMIM:612951 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Distal sensory impairment, Lethargy, Difficulty walking, Paralysis |
OMIM:613710 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Atonic seizure |
OMIM:611092 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Irritability, Myoclonus, ... |
OMIM:605899 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Seizure |
ORPHA:436151 |
Leukodystrophy, Hypomyelinating, 14 |
|
Seizure, Spasticity, Generalized hypotonia, Dystonia |
OMIM:617899 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... |
OMIM:600363 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Mepan Syndrome |
|
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Hypotonia, Dysphagia, Gait disturbance, M... |
ORPHA:508093 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Emotional ... |
OMIM:616269 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Incoordination, Somatic sensory dysfunction, Paralysis, Aggressive behavior, Parap... |
ORPHA:43 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... |
OMIM:617106 |
Manganese Poisoning |
|
Postural tremor, Confusion, Akinesia, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Bra... |
ORPHA:306682 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Short attention span, Dystonia, Parkinsonism, Infantile axial hypotonia, Focal-on... |
ORPHA:225147 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Dystonia 15, Myoclonic |
|
Writer's cramp, Myoclonus, Dystonia |
OMIM:607488 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Inability to walk, Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Aggr... |
OMIM:619639 |
Leukodystrophy, Hypomyelinating, 21 |
|
Ataxia, Athetosis, Tetraparesis, Dystonia, Mental deterioration, Failure to thrive |
OMIM:619310 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Paraparesis, Focal-onset seizure, Hypotonia, Choreoatheto... |
ORPHA:726 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Hypotonia, Dysphagia, Clumsiness,... |
OMIM:617282 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Generalized hypotonia, Dystonia, Dif... |
ORPHA:306669 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking |
OMIM:613608 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
Developmental And Epileptic Encephalopathy 1 |
|
Axial hypotonia, Dystonia, Spastic tetraparesis, Tonic seizure, Infantile spasms, Focal-onset sei... |
OMIM:308350 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Spinocerebellar Ataxia 21 |
|
Ataxia, Parkinsonism, Postural tremor, Aggressive behavior, Impulsivity, Akinesia, Limb ataxia, G... |
OMIM:607454 |
Hypermanganesemia With Dystonia 2 |
|
Progressive neurologic deterioration, Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinso... |
OMIM:617013 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure, Slender build |
OMIM:617709 |
Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hypot... |
OMIM:619301 |
Dyschromatosis Symmetrica Hereditaria |
|
Torsion dystonia |
ORPHA:41 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Seizure, Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:616281 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Impaired vibration sensation in... |
OMIM:607565 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia... |
ORPHA:98756 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur... |
OMIM:617810 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired t... |
OMIM:300423 |
Neuroferritinopathy |
|
Resting tremor, Parkinsonism, Involuntary movements, Writer's cramp, Chorea, Babinski sign, Subco... |
ORPHA:157846 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Depression, Gait di... |
ORPHA:98764 |
Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Involuntary movements, Parkinsonism, Writer's cramp, Rigidity, Chorea, Abnor... |
ORPHA:98759 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... |
OMIM:619616 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Obesity, Generalized non-motor (absence) seizure, Seizure, Focal ... |
OMIM:619854 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615127 |
Lafora Disease |
|
Ataxia, Confusion, Focal sensory seizure with visual features, Depression, Seizure, Gait disturba... |
ORPHA:501 |
4H Leukodystrophy |
|
Ataxia, Tremor, Dysmetria, Dysphagia, Seizure, Progressive gait ataxia, Dysdiadochokinesis, Abnor... |
ORPHA:289494 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Axial hypotonia, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Short attention span, Bilateral tonic-clonic seizure, Aggressive beh... |
OMIM:300558 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Dysp... |
OMIM:607346 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, Myoclonus, Loss of ambul... |
OMIM:256731 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... |
OMIM:615476 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Un... |
ORPHA:464282 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Dyston... |
ORPHA:314603 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Postural tremor, Impair... |
ORPHA:99947 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depr... |
OMIM:137440 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Limb dystonia, Axial hypotonia, Abnormality of coordination, Ataxia, Parkinsonism, Spastic tetrap... |
ORPHA:352649 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Infantile Dystonia-Parkinsonism |
|
Cerebral palsy, Axial hypotonia, Parkinsonism, Oculogyric crisis, Chorea, Abnormal pyramidal sign... |
ORPHA:238455 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hypotonia, Bilateral tonic-clonic seizure, Myoclonus, Dystonia |
ORPHA:139406 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Slender build, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (abse... |
OMIM:617600 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Chorea, Spastic tetraplegia, Hypotonia, Athetosis, Seizure, Self-injurious behavior, Dystonia |
OMIM:619922 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Spastic tetraplegia, Choreoathetosis, Seizure, Generalized hypotonia, Dystonia, Spasticity, Failu... |
OMIM:618238 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Hypotonia,... |
OMIM:606703 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Abnormality of coordination, Ataxia, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea... |
ORPHA:442835 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Severe muscular hypotonia, Tremor, Babinski sign, Spastic paraplegia, Seizure, ... |
ORPHA:477673 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Seizure, Transient global amnesia, Tet... |
ORPHA:140989 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Ataxia, Spastic paraplegia, Poor gross motor coordination, Spastic tetraplegia, Unsteady gait, Po... |
OMIM:245349 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Restless legs, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Pa... |
OMIM:616710 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Limb dystonia, Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, P... |
ORPHA:363400 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Axial hypotonia, Oculogyric crisis, Tremor, Hypotonia, Dysd... |
OMIM:618049 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... |
ORPHA:276435 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Multifocal seizures, Ataxia, Involuntary movements, Axial hypotonia, Choreoathetosis, Status epil... |
OMIM:615905 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus |
OMIM:613721 |
Leukodystrophy, Hypomyelinating, 15 |
|
Ataxia, Abnormal pyramidal sign, Dysphagia, Athetosis, Seizure, Dystonia, Loss of ambulation, Spa... |
OMIM:617951 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Focal-onset seizure, Depression, Hemiparesis, Seizure, Status epilepticus, Spasti... |
OMIM:614307 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Primary Dystonia, Dyt4 Type |
|
Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements, Upper limb postural ... |
ORPHA:98805 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:266100 |
Progressive Supranuclear Palsy |
|
Impulsivity, Tremor, Rigidity, Unsteady gait, Dysphagia, Depression, Blepharospasm, Bradykinesia,... |
ORPHA:683 |
Developmental And Epileptic Encephalopathy 12 |
|
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:613722 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Seizure, Dementia, Gait disturbance, Cogni... |
OMIM:603472 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized-onset seizure, Tremor, Dementia, Tongue fasciculations, Myoclonus, Dysphagia, General... |
OMIM:159950 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Oromandibular dystonia, Impaired proprioception, Dysm... |
ORPHA:101 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:614499 |
Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hypot... |
OMIM:619302 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:601068 |
Epilepsy, Progressive Myoclonic, 8 |
|
Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Limb ataxia, Choreoathetosi... |
OMIM:616230 |
Bilateral Frontoparietal Polymicrogyria |
|
Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Seizure, Generali... |
ORPHA:101070 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Dysphagia, Opisthotonus, Weight loss, Seizure, Tip-toe g... |
ORPHA:216866 |
Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Generalized non-motor (absence) seizure, Focal motor seizure |
OMIM:615553 |
Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Depression... |
OMIM:616795 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Depression, Hypertonia, Hyp... |
OMIM:619738 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... |
OMIM:610217 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Epilepsia partialis continua, Axial hypotonia, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia... |
OMIM:612016 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Severe temper tantrums, Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia... |
OMIM:619052 |
Leukodystrophy, Hypomyelinating, 6 |
|
Axial hypotonia, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Seizure, Dystonia, Oculomo... |
OMIM:612438 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Axial hypotonia, Ataxia, Tremor, Bruxism, Dysphagia, Choreoathetosis, Seizure, Dystonia, Self-mut... |
OMIM:619422 |
Pontocerebellar Hypoplasia, Type 2C |
|
Chorea, Dystonia |
OMIM:612390 |
Spinocerebellar Ataxia Type 10 |
|
Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Aggressive behavior, Babinski s... |
ORPHA:98761 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Infantile spasms, Progressive neurologic deterioration, Head titubation, Hypotonia, Sei... |
ORPHA:88639 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:35878 |
Tubulinopathy-Associated Dysgyria |
|
Startle-induced seizure, Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Atten... |
ORPHA:467166 |
Leber Optic Atrophy And Dystonia |
|
Dysphagia, Bradykinesia, Athetosis, Dementia, Dystonia, Spasticity, Upper motor neuron dysfunction |
OMIM:500001 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Lower limb spasticity, Ataxia, Focal-onset seizure, Dysmetria, Pseudobulbar paralysis, Lower limb... |
ORPHA:438114 |
Spinocerebellar Ataxia Type 1 |
|
Dystonia, Postural tremor, Chorea, Slurred speech, Impaired proprioception, Dysmetria, Dysphagia,... |
ORPHA:98755 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Bruxism, Seizure, Self-injurious behavior, Infantile mu... |
OMIM:618718 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Postural tremor, Parkinsonism, Chorea, Hand tremor, Depression, Athetosis, Dementia, Cognitive im... |
OMIM:615483 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... |
ORPHA:250972 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Small for gestational age, Babinski sign, Hypotonia, Choreoathetosis, Limb d... |
OMIM:619054 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Axial hypotonia, Ataxia, Dystonia, Spastic tetraparesis, Abnormal pyramidal sign, Hypotonia, Dyst... |
ORPHA:280219 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Bilateral tonic-clonic seizure, Spastic tetraplegia, Irritability, Generalized hypotonia, Dystoni... |
OMIM:618237 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypotonia, Seizure, Hypertonia, Attention deficit hyperactivit... |
OMIM:619556 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Seizure, Dystonia, Loss of ... |
OMIM:607694 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Neonatal hypotonia, Ataxia, Action tremor |
OMIM:300703 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Metachromatic Leukodystrophy |
|
Ataxia, Chorea, Babinski sign, Spastic tetraplegia, Tetraplegia, Hypotonia, Seizure, Gait disturb... |
OMIM:250100 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Axial hypotonia, Ataxia, Babinski sign, Hypotonia, Seizure, Irritability, Generalized hypotonia, ... |
OMIM:618226 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Inability to walk, Spastic tetraplegia, Dystonia |
OMIM:618646 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Myo... |
OMIM:168601 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Dystonia, Ataxia, Head titubation, Dysesthesia, Abnormal pyramidal sign, Seizure, Progressive spa... |
ORPHA:527497 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraparesis, A... |
OMIM:604317 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Obesity, Seizure, Inappropriate la... |
ORPHA:411515 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Loss of ambulation |
OMIM:617917 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi... |
ORPHA:284324 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Babinski sign, Hypotonia, Dysphagia, Seizure, Irritability, Hypertonia, Dystonia, Neonatal hypotonia |
OMIM:264470 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb spasticity, Arm dyston... |
ORPHA:300605 |
Parkinson Disease 14, Autosomal Recessive |
|
Tremor, Hand tremor, Loss of ambulation, Eyelid apraxia, Parkinsonism, Clumsiness, Depression, Up... |
OMIM:612953 |
Developmental And Epileptic Encephalopathy 103 |
|
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic stat... |
OMIM:619913 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Ataxia, Hypotonia, Seizure, Myoclonus, Dystonia, Spasticity |
OMIM:620094 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Ataxia, Postural tremor, Impaired distal proprioception, Focal-onset seizure, Babinski sign, Impa... |
ORPHA:447896 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Bradykinesia, Weig... |
OMIM:168605 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Limb dystonia, Torticollis, Head titubation, Abnormal pyramidal sign, Hypotonia, Limb ataxia, Cog... |
OMIM:617560 |
Partington Syndrome |
|
Lower limb spasticity, Infantile spasms, Focal dystonia, Seizure, Limb dystonia |
OMIM:309510 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz... |
ORPHA:100988 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Short attention span, Somatic sensory dysfunction, Ataxia, Obesity, Cognitive impairment, Dystoni... |
ORPHA:459033 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Mental deterioration, Limb... |
OMIM:208920 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Ataxia, Abnormal eating behavior, Tremor, Obsessive-compulsive trait, ... |
ORPHA:544254 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Axial hypotonia, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait atax... |
OMIM:614831 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Axial hypotonia, Ataxia, Spastic ... |
ORPHA:35069 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Seizure, Truncal ataxia, Abn... |
OMIM:608636 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Chorea, Seizure, Status epilepticus, Focal impaired awareness sei... |
OMIM:613970 |
Trisomy X |
|
Tremor, Hypotonia, Depression, Seizure, Attention deficit hyperactivity disorder, Cognitive impai... |
ORPHA:3375 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Ataxia, Babinski sign, Seizure, Myoclonus, Cognitive impairment, Truncal ataxia, Neonat... |
OMIM:252011 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Rigidity, Babinski sign, Hand tremor, Dysphagia, Bradykinesia, Gait distu... |
ORPHA:289560 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability to walk, Babinski sig... |
ORPHA:93952 |
Lissencephaly 3 |
|
Agyria, Ataxia, Bilateral tonic-clonic seizure, Periventricular laminar heterotopia, Seizure, Gra... |
OMIM:611603 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... |
OMIM:610042 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Babinski sign, Slurred speech, Hypotonia,... |
ORPHA:137898 |
Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Hypotonia, Gait ata... |
OMIM:618877 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
ORPHA:275864 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Obesity |
OMIM:616521 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Gait ... |
OMIM:619092 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Generalized-onset seizure, Ataxia, Focal-onset seizure, Mental deterioration, Generalized non-mot... |
OMIM:620166 |
Baralle-Macken Syndrome |
|
Focal-onset seizure, Inability to walk, Obesity, Dystonia, Neonatal hypotonia, Spasticity |
OMIM:619255 |
Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... |
ORPHA:282166 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Generalized dystonia, Ataxia, Progressive neurologic deterioration, Inability to walk, Chorea, Hy... |
ORPHA:70472 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Choreoathetosis, Seizure, Generalized hypotonia, Dystonia, Frequent falls |
OMIM:618416 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus, Agitation, Emotional lab... |
OMIM:617171 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Abnormal pyramidal sign, Mental dete... |
ORPHA:240071 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizure, Dementia, Gait i... |
OMIM:301020 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Abnormal pyramida... |
OMIM:614298 |
Developmental And Epileptic Encephalopathy 46 |
|
Generalized-onset seizure, Axial hypotonia, Tremor, Seizure, Dysphagia, Failure to thrive, Limb h... |
OMIM:617162 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Hypotonia, Seizure, Hypertonia, Spasticity |
ORPHA:33445 |
Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Generalized hypotonia, Dys... |
ORPHA:251347 |
Myoclonic Epilepsy, Familial Infantile |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... |
OMIM:605021 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Partington Syndrome |
|
Lower limb spasticity, Seizure, Gait disturbance, Limb dystonia |
ORPHA:94083 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:619827 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Rigidity, Irritability, Dystonia, Loss of ambulation |
OMIM:615010 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Cachexia, Chorea, Hypotonia, Athetosis, Seizure, Hypertonia, Dystonia, Sel... |
ORPHA:52503 |
Developmental And Epileptic Encephalopathy 98 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... |
OMIM:619605 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Hypotonia, Tetraplegia, Seizure, Hypertonia, Failure to thrive |
OMIM:274270 |
Pyridoxine-Dependent Epilepsy |
|
Early onset absence seizures, Restlessness, Epileptic spasm, Focal-onset seizure, Seizure, Irrita... |
ORPHA:3006 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Clonus, Impaired proprioception, Upper limb hypertonia, Limb dyston... |
ORPHA:319199 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... |
OMIM:300623 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Seizure, Hypertonia, Dystonia, Lethargy, Failure to thrive, Infantile muscular hypotonia |
ORPHA:26792 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic pa... |
ORPHA:329308 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal sensory impairment, Difficulty walking, Paralysis |
OMIM:605285 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Gait ataxia, Distal sensory impairment, Seizure, Cognitive impairment, ... |
ORPHA:3124 |
Developmental And Epileptic Encephalopathy 59 |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Self-... |
OMIM:617904 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Cerebral palsy, Bilateral tonic-clonic seizure with generalized onset, Axial hypotonia, Chorea, B... |
OMIM:618451 |
Allan-Herndon-Dudley Syndrome |
|
Axial hypotonia, Ataxia, Small for gestational age, Failure to thrive in infancy, Babinski sign, ... |
ORPHA:59 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Classic Galactosemia |
|
Speech apraxia, Incoordination, Ataxia, Postural tremor, Clumsiness, Depression, Seizure, Gait di... |
ORPHA:79239 |
Dystonia 28 |
|
Torticollis, Generalized dystonia, Abnormal pyramidal sign, Leg dystonia, Depression, Arm dystoni... |
ORPHA:589618 |
Christianson Syndrome |
|
Generalized-onset seizure, Cachexia, Truncal ataxia, Dysphagia, Gait ataxia, Inappropriate laught... |
ORPHA:85278 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... |
OMIM:607745 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Bilateral tonic-clonic seizure, Inability to walk, Irritability, Dystonia, Infantile muscular hyp... |
ORPHA:457205 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Atonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Foc... |
ORPHA:411986 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Ataxia, Choreoathetosis, Seizure, Colpocephaly, Reduced liver 2,4-dienoyl-CoA reductase activity,... |
OMIM:616034 |
Autosomal Dominant Spastic Paraplegia Type 9B |
|
Postural tremor, Progressive neurologic deterioration, Babinski sign, Hypotonia, Focal dystonia, ... |
ORPHA:447757 |
Peroxisome Biogenesis Disorder 8B |
|
Lower limb spasticity, Failure to thrive, Ataxia, Clonus, Rigidity, Dysesthesia, Babinski sign, U... |
OMIM:614877 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Ataxia, Hypotonia, Seizure, Dystonia, Lethargy |
OMIM:246900 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:615637 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Ataxia, Upper... |
OMIM:205100 |
Spinocerebellar Ataxia 2 |
|
Dysmetria, Generalized hypotonia, Impaired vibratory sensation, Ataxia, Parkinsonism, Fasciculati... |
OMIM:183090 |
Spinocerebellar Ataxia Type 6 |
|
Incoordination, Babinski sign, Unsteady gait, Dysphagia, Gait ataxia, Blepharospasm, Progressive ... |
ORPHA:98758 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Atonic seizure, Generalized non-motor (absence) seizure |
OMIM:610293 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Limb ataxia, Ge... |
OMIM:213200 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Hypotonia, Choreoathetosis, Seizure, Myoclonus, Generalized hy... |
OMIM:312170 |
Lethal Congenital Contracture Syndrome 7 |
|
Oral-pharyngeal dysphagia, Hypotonia, Generalized hypotonia, Paralysis |
OMIM:616286 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Generalized-onset seizure, Loss of ability to walk in early childhood, Small for gestational age,... |
OMIM:612073 |
Leigh Syndrome |
|
Ataxia, Hypotonia, Seizure, Generalized hypotonia, Dystonia, Emotional lability, Spasticity, Fail... |
OMIM:256000 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Abnormal pyramidal sign, Tetraplegia, Seizure, Dystonia, Failure to thrive |
OMIM:300475 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... |
ORPHA:101077 |
Sporadic Creutzfeldt-Jakob Disease |
|
Gliosis, Astrocytosis |
ORPHA:204 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Clonus, Babinski sign, Dysphagia, Progressive cerebellar ataxia, Dystonia, Mental deterioration, ... |
OMIM:618868 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Developmental And Epileptic Encephalopathy 38 |
|
Multifocal seizures, Ataxia, Axial hypotonia, Irritability, Status epilepticus, Dystonia, Limb hy... |
OMIM:617020 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Seizure, Diminished ability to concentrate, Ge... |
OMIM:615516 |
Sulfite Oxidase Deficiency, Isolated |
|
Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Generalized dystonia, Choreoathetosis, H... |
OMIM:272300 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... |
ORPHA:52368 |
Coasy Protein-Associated Neurodegeneration |
|
Parkinsonism, Compulsive behaviors, Cognitive impairment, Oromandibular dystonia, Spastic parapar... |
ORPHA:397725 |
Developmental And Epileptic Encephalopathy 51 |
|
Epileptic spasm, Focal-onset seizure, Inability to walk, Babinski sign, Abnormal pyramidal sign, ... |
OMIM:617339 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
Spinocerebellar Ataxia 28 |
|
Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hy... |
OMIM:610246 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Fatiguable weakness of proximal limb musc... |
ORPHA:90117 |
Leukodystrophy, Hypomyelinating, 9 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Babinski sign, Dysmetria, Pseudobulbar paralysis,... |
OMIM:616140 |
Classic Phenylketonuria |
|
Tremor, Mental deterioration, Paraplegia, Depression, Seizure, Self-injurious behavior, Hypertoni... |
ORPHA:79254 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambulation, Intention tremor,... |
ORPHA:157850 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Generalized hypotonia |
OMIM:264070 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Dysphagia, Tongue fas... |
ORPHA:276198 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... |
OMIM:619862 |
Seizures, Benign Familial Infantile, 1 |
|
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... |
OMIM:601764 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Multifocal seizures, Ataxia, Axial hypotonia, Severe temper tantrums, Aggressive behavior, Tremor... |
OMIM:617710 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Ataxia, Tonic seizure, Repetitive compulsive behavior, Chorea, Inability to w... |
OMIM:300260 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Memory impairment, Seizure, Infantile muscular hypotonia |
ORPHA:79234 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Memory impairment, Action tremor |
OMIM:620158 |
Den Hoed-De Boer-Voisin Syndrome |
|
Tremor, Abnormal repetitive mannerisms, Ataxia, Overweight, Obesity, Nocturnal seizures, Stereoty... |
OMIM:619229 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Progressive neurologic deterioration, Tremor, Chorea, Progressive gait... |
ORPHA:646 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Distal sensory impair... |
OMIM:302800 |
Familial Focal Epilepsy With Variable Foci |
|
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... |
ORPHA:98820 |
Kaya-Barakat-Masson Syndrome |
|
Axial hypotonia, Spastic tetraplegia, Seizure, Irritability, Generalized hypotonia, Limb dystonia... |
OMIM:619125 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Generalized non-motor (absence) seizure, Difficulty walking |
OMIM:618242 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Dystonia, Chorea, Babinski sign, Progressive psychomotor deterioration, Clu... |
ORPHA:309271 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:616033 |
Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure |
OMIM:616341 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Sneddon Syndrome |
|
Tremor, Chorea, Hemiparesis, Seizure, Dementia, Mental deterioration, Memory impairment |
ORPHA:820 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Mental deterioration... |
OMIM:609260 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia |
OMIM:224500 |
Rett Syndrome |
|
Dystonia, Cachexia, Gait apraxia, Bruxism, Gait ataxia, Seizure, Truncal ataxia, Spasticity, Moto... |
OMIM:312750 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Blepharospasm, Oromandibular dystonia |
OMIM:602124 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
Myopathy With Extrapyramidal Signs |
|
Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Hypotonia, Clumsiness, Choreoathetosis, Seizure, A... |
OMIM:615673 |
Pontocerebellar Hypoplasia, Type 9 |
|
Axial hypotonia, Facial hypotonia, Clonus, Dysphagia, Seizure, Irritability, Hypertonia, Dystonia... |
OMIM:615809 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia |
OMIM:619724 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Neuromuscular dysphagia, Blepharospa... |
ORPHA:240094 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Babinski sign, Abnormal pyramidal sign, Progressive cerebellar ataxia, Progressive gait ataxia, P... |
ORPHA:513436 |
Tay-Sachs Disease |
|
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Generalized hypotonia, Laryngeal... |
ORPHA:845 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Ataxia, Small for gestational age, Failure to thrive in infancy, S... |
OMIM:614104 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Torticollis, Head tremor, Dystonia, Intention tremor |
OMIM:613724 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Involuntary move... |
ORPHA:98784 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Seizure, Typical absence seizure, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:576283 |
Recessive Mitochondrial Ataxia Syndrome |
|
Impaired vibratory sensation, Ataxia, Dysmetria, Dysphagia, Seizure, Gait disturbance, Positive R... |
ORPHA:94125 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Irritability, Status epilepticus, Myoclonus, Fai... |
OMIM:609056 |
Postencephalitic Parkinsonism |
|
Resting tremor, Involuntary movements, Oculogyric crisis, Akinesia, Rigidity, Babinski sign, Abno... |
ORPHA:97349 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... |
ORPHA:420492 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Dystonia, Axial hypotonia, Parkinsonism, Spastic tetraparesis, Generalized dystonia, Inability to... |
OMIM:619653 |
Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Bilateral tonic-clonic seizure with generalized onset, Infantile axial hypot... |
ORPHA:2524 |
Dystonia 26, Myoclonic |
|
Torticollis, Depression, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia |
OMIM:616398 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait |
OMIM:618387 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Spastic tetraplegia, Athetosis, Seizure, Hypertonia, Limb dystonia, Sp... |
ORPHA:621 |
Spastic Ataxia 3, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Cognitive impairment, Dystonia, Loss of ambulatio... |
OMIM:611390 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Lower limb spasticity, Babinski sign, Pseudobulbar paralysis, Gait disturbance, Dystonia, Impaire... |
ORPHA:101006 |
Glioblastoma |
|
Memory impairment, Emotional lability, Seizure, Paralysis |
ORPHA:360 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Choreoathetosis, Seizure, Gai... |
ORPHA:765 |
Combined Malonic And Methylmalonic Acidemia |
|
Axial hypotonia, Generalized clonic seizure, Seizure, Focal impaired awareness seizure, Dystonia,... |
ORPHA:289504 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Babinski sign, Progressive psychomotor deterioration, Clumsiness, Seizure, ... |
ORPHA:309263 |
Pontocerebellar Hypoplasia, Type 2B |
|
Axial hypotonia, Clonus, Tonic seizure, Chorea, Babinski sign, Hypotonia, Dysphagia, Opisthotonus... |
OMIM:612389 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Inability to walk, Chorea, Hypotonia, Bruxism, Hemiparesis, Seizure, Self-in... |
OMIM:618004 |
Parkinson-Dementia Syndrome |
|
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia |
OMIM:260540 |
Combined Oxidative Phosphorylation Deficiency 35 |
|
Spasticity, Generalized hypotonia, Dystonia, Generalized myoclonic seizure, Febrile seizure (with... |
OMIM:617873 |
Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... |
ORPHA:98757 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Inability to walk, Hypotonia, Seizure, Abnormality of extrapyramidal motor function, Generalized ... |
OMIM:614739 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101075 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Choreoat... |
OMIM:604391 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... |
OMIM:609425 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive imp... |
OMIM:607876 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior, Hypotonia, Seizure, Generalized hypotonia |
OMIM:248510 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic s... |
OMIM:619428 |
Periventricular Nodular Heterotopia 7 |
|
Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Seizure, Gray matter heterotop... |
OMIM:617201 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Inability to walk, Hypotonia, Dysphagia, Choreoathetosis, Seizure, Dystonia, Spasticity |
OMIM:617664 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Hypotonia, Poor fine motor coordination, Seizure, Attention deficit hyperactivity ... |
OMIM:617182 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seiz... |
OMIM:618170 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with... |
ORPHA:163681 |
Machado-Joseph Disease |
|
Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigi... |
OMIM:109150 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Seizu... |
ORPHA:363654 |
Cerebral Cavernous Malformations 3 |
|
Seizure, Paralysis |
OMIM:603285 |
Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Dementia, Myoclonus... |
ORPHA:171695 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Babinski sign, Clumsiness, Gait ataxia, Seizure, Progressive gait ataxia, Tip-toe gait, Decerebra... |
ORPHA:309256 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Hypotonia, Choreoathetosis, Seizure, Gait disturb... |
ORPHA:702 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Dysphagia |
OMIM:618637 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Generalized hypotonia |
OMIM:619099 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Impulsivity, Akinesia, Rigidity, Dysphagia, Depression, Bradykinesi... |
ORPHA:411602 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Aggressive behavior, Tremor, Hypotonia, Seizure, Myoclonus, Dysphagia |
ORPHA:97229 |
Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Obesity, Tetraplegia, Cognitive im... |
OMIM:616267 |
Gaucher Disease Type 2 |
|
Generalized myoclonic seizure, Spasticity, Dysphagia, Dystonia |
ORPHA:77260 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Truncal titubation, Hypotonia, Limb ataxia, Dysmetria, Gait ataxia, Impaired ta... |
OMIM:117360 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Frontotemporal dementi... |
ORPHA:275872 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Ataxia, Bilateral tonic-clonic seizure, Fo... |
ORPHA:395 |
Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Hypotonia, Generalized hypotonia, Dystonia |
OMIM:618244 |
Friedreich Ataxia |
|
Inability to walk, Chorea, Babinski sign, Impaired proprioception, Dysmetria, Gait ataxia, Limb a... |
ORPHA:95 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Generalized-onset seizure, Facial hypotonia, Hypotonia, Gait ataxia, Difficulty... |
OMIM:617807 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Depression, Blepharospasm, Weight loss, Hy... |
ORPHA:93958 |
Houge-Janssens Syndrome 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:618354 |
Acute Peripheral Arterial Occlusion |
|
Paresthesia, Impaired distal tactile sensation, Paralysis |
ORPHA:90064 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Overweight, Hypotonia, Depression, Seizure, Hyperkinetic ... |
ORPHA:457240 |
Lethal Congenital Contracture Syndrome 8 |
|
Vocal cord paralysis, Hypotonia, Distal sensory impairment, Oral-pharyngeal dysphagia |
OMIM:616287 |
Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Ataxia, Rigidity, Unsteady gait, Limb ataxia, Gait ataxia, Spastic ... |
ORPHA:98760 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Gene... |
ORPHA:529665 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... |
OMIM:610185 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance |
ORPHA:99014 |
Adrenoleukodystrophy |
|
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Seizure, Dementia, ... |
OMIM:300100 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Hyperactivity, Axial hypotonia, Clonus, Infantile spasms, Tonic seizure, Aggressive behavior, Bab... |
OMIM:617773 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance, Cognitive impairment, Attention deficit hyperactivity diso... |
ORPHA:369873 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Generalized dystonia, Bilateral tonic-clonic seizure, Focal motor seizure, Irritability, Spastici... |
OMIM:618235 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... |
OMIM:619574 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ... |
ORPHA:401768 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101078 |
Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Dysphagia, Gait disturbance, Progressive... |
OMIM:210000 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Poor motor coordination, Ataxia, Infantile spasms, Severe muscular hypotonia, Tremor, R... |
ORPHA:25 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Axial hypotonia, Ataxia, Inability to walk, Dysmetria, Seizure, Dystonia, Oculomotor apraxia, Spa... |
OMIM:618087 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anorexia, Hypotonia, Choreoathetosis, Seizure, Dystonia, Failure to thrive |
ORPHA:79312 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Neonatal hypotonia, Generalized dystonia, Ataxia, Hypotonia, Choreoathetosis... |
OMIM:245348 |
Rett Syndrome |
|
Limb apraxia, Inability to walk, Stereotypical hand wringing, Bradykinesia, Seizure, Agitation, G... |
ORPHA:778 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Hypotonia, Dysmet... |
ORPHA:1170 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Bilateral tonic-clonic seizure, Atonic seizure |
OMIM:309530 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign... |
ORPHA:98808 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Inability to walk, Chorea, Seizure, Irritabil... |
OMIM:617864 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, ... |
ORPHA:98794 |
Developmental And Epileptic Encephalopathy 86 |
|
Dystonia, Small for gestational age, Generalized hypotonia, Myoclonic seizure |
OMIM:618910 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Confusion, Seizure, Hypertonia, Dementia, Myoclonus, Semantic dementia, Apr... |
ORPHA:1020 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,... |
OMIM:612164 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... |
ORPHA:363549 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Clonic seizure, Opisthotonus, Choreoathetosis, Gait ataxia, Myoclonic seizure, Generalized hypoto... |
OMIM:619580 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Tremor, Hypotonia, Depression, Seizure, Tru... |
OMIM:300957 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, Seizure, Myoclonus, Fe... |
OMIM:616973 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Paroxysmal dystonia, Axial hypotonia, Weakness due to upper motor neuron d... |
ORPHA:466722 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Frontotemporal dementia, Dementia, Gait disturbance, Tetraparesis, Dystonia, Loss of ambulation |
OMIM:167320 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics |
OMIM:619927 |
Young-Onset Parkinson Disease |
|
Short attention span, Restless legs, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Fro... |
ORPHA:2828 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spastic ataxia, Somatic sensory dysfunction, Bilateral tonic-clonic seizure, Aggressive behavior,... |
ORPHA:199354 |
Caribbean Parkinsonism |
|
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, F... |
ORPHA:97355 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Obesity, Seizure, Generalized hypotonia, Dys... |
ORPHA:480907 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Small for gestational age, Lateral ventricle dilatation, Bilateral tonic-clonic seizure |
OMIM:619278 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h... |
ORPHA:64280 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Axial hypotonia, Oculogyric crisis, Babinski sign, Ton... |
OMIM:608643 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Hypotonia, Depression, Seizure, Self-injurious behavior, Comp... |
OMIM:619467 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Dystonia, Inability to walk, Seizure, Difficulty walking, Generalized hypotonia |
OMIM:611890 |
Aicardi-Goutieres Syndrome 2 |
|
Spastic paraplegia, Dystonia |
OMIM:610181 |
Myasthenic Syndrome, Congenital, 16 |
|
Fatigable weakness, Gait disturbance, Periodic paralysis |
OMIM:614198 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dystonia, Sho... |
OMIM:168600 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Seizure, Generalized hypotonia, Spasticity |
ORPHA:457260 |
Harel-Yoon Syndrome |
|
Axial hypotonia, Ataxia, Inability to walk, Hypotonia, Generalized non-motor (absence) seizure, D... |
OMIM:617183 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Frontotemporal dementia, Parkinsonism with favorable response t... |
ORPHA:199351 |
Machado-Joseph Disease Type 1 |
|
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Dysp... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Dysp... |
ORPHA:276241 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Astrocytosis |
OMIM:611087 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Ataxia, Narcolepsy, Depression, Dementia, Memory impairment |
OMIM:604121 |
Charcot-Marie-Tooth Disease Type 4A |
|
Impaired distal proprioception, Impaired pain sensation, Inability to walk, Unsteady gait, Poor g... |
ORPHA:99948 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Speech apraxia, Broad-based gait, Axial hypotonia, Dystonia, Aggressive behavior, Hypotonia, Seiz... |
OMIM:300352 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity, Aggressive behavior, Hypotonia, Seizure, Self-injurious behavior, Failure to thrive |
OMIM:618362 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Poor coordination, Hypotonia... |
OMIM:620242 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Axial hypotonia, Small for gestational age, Progressive neurologic deterioration, Seizure, Irrita... |
OMIM:618253 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Broad-based gait, Small for gestational age, Failure to thrive in infancy, Poor coordination, Abn... |
OMIM:618891 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Short attention span, Hyperactivity, Ataxia, Confusion, Spastic tetrapares... |
ORPHA:139396 |
Liang-Wang Syndrome |
|
Status epilepticus, Ataxia, Generalized non-motor (absence) seizure, Dystonia |
OMIM:618729 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive psychomotor deterioration... |
ORPHA:263516 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Alternating Hemiplegia Of Childhood |
|
Progressive neurologic deterioration, Anorexia, Tremor, Oral-pharyngeal dysphagia, Chorea, Abnorm... |
ORPHA:2131 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Dys... |
ORPHA:64753 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Hypotonia, Seizure, Dystonia, Failure to... |
OMIM:616977 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Tonic... |
OMIM:300912 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Small for gestational age, Clonus, Babinski sign, Spastic tetraplegia, Hypotonia,... |
OMIM:619847 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... |
OMIM:616719 |
Kcnq2-Related Epileptic Encephalopathy |
|
Epileptic spasm, Inability to walk, Poor gross motor coordination, Hypotonia, Seizure, Dystonia, ... |
ORPHA:439218 |
Hengel-Maroofian-Schols Syndrome |
|
Inability to walk, Hypotonia, Tetraplegia, Seizure, Gait imbalance, Dystonia, Spasticity, Upper m... |
OMIM:619641 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Axial hypotonia, Tremor, Truncal titubation, Dysmetria, Gait ataxia... |
OMIM:618056 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Dystonia, Parkinsonism, Impaired distal proprioception, Rigidity, Babinski sign, Impaired distal ... |
OMIM:258450 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Bilateral tonic-clonic seizure, Severe muscular hypotonia, Chorea, Hypotonia, Opisthotonus, Statu... |
OMIM:616672 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Aggressive behavior, Hypotonia, Seizure, Spasticity, Failure to thrive |
OMIM:615286 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Generalized-onset seizure, Hypotonia, Seizure, Self-injurious behavior, Generalized hypotonia, Dy... |
OMIM:617268 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Progressive neur... |
OMIM:254780 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Spastic tetraparesis, Poor coordination, Spastic diplegia, Hypotonia, Dysphagia, Ch... |
ORPHA:391428 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... |
OMIM:261600 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Progressive neurologic deterioration, Tremor, Increased body weight, Seizure, Agitation |
ORPHA:276608 |
Niemann-Pick Disease, Type C1 |
|
Ataxia, Hypotonia, Dysphagia, Gait ataxia, Seizure, Dementia, Generalized hypotonia, Dystonia, Ca... |
OMIM:257220 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Generalized myoclonic seizure, Atonic seizure, Aggressiv... |
ORPHA:72 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Cerebral palsy, Small for gestational age, Repetitive compulsive behavior, Seizure... |
ORPHA:352490 |
Developmental And Epileptic Encephalopathy 110 |
|
Pain insensitivity, Chorea, Generalized non-motor (absence) seizure, Bruxism, Focal impaired awar... |
OMIM:620149 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis, Paresthesia |
ORPHA:640 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Dysdiadoch... |
OMIM:277460 |
Mohr-Tranebjaerg Syndrome |
|
Dystonia, Tremor, Dysphagia, Mental deterioration, Spasticity |
OMIM:304700 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, G... |
OMIM:615530 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors |
OMIM:619405 |
Dystonia-Aphonia Syndrome |
|
Generalized dystonia, Unsteady gait, Seizure, Gait disturbance, Myoclonus, Cognitive impairment, ... |
ORPHA:412217 |
Cln3 Disease |
|
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Mental deterior... |
ORPHA:228346 |
Migraine, Familial Hemiplegic, 2 |
|
Bilateral tonic-clonic seizure, Confusion, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, H... |
OMIM:602481 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal circulating enzyme concentration or activity, Bilateral tonic-clonic seizure, Depression... |
ORPHA:79264 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Attention deficit hyperactivity disorder |
OMIM:617028 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure, Dementia, Shuff... |
OMIM:311510 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Seizure, Gait disturbance, Cognitive impairment, Spasticity, Failure to thrive |
ORPHA:100 |
Adenylosuccinase Deficiency |
|
Hyperactivity, Aggressive behavior, Inability to walk, Hypotonia, Opisthotonus, Gait ataxia, Seiz... |
OMIM:103050 |
Leukodystrophy, Hypomyelinating, 20 |
|
Torticollis, Babinski sign, Spastic tetraplegia, Irritability, Hypertonia, Dystonia |
OMIM:619071 |
Aicardi-Goutieres Syndrome 3 |
|
Spasticity, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:610329 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Difficulty walking, Dystonia |
OMIM:616684 |
Spontaneous Periodic Hypothermia |
|
Tremor, Seizure, Ataxia, Gait disturbance |
ORPHA:29822 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Respiratory insufficiency |
OMIM:601612 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... |
OMIM:234200 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Bilateral tonic-clonic seizure, Obesity, Large for gestational age |
OMIM:240900 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal cortical gyration, Generalized non-moto... |
ORPHA:79351 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Incoordination, Ataxia, Clonus, Involuntary movements, Multifocal seizures, Bilateral tonic-cloni... |
ORPHA:480864 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Hypotonia, Seizure, Decreased body weight, ... |
OMIM:300958 |
Amyotrophic Lateral Sclerosis |
|
Paralysis, Fatigable weakness of bulbar muscles, Depression, Fatigable weakness of swallowing mus... |
ORPHA:803 |
Perry Syndrome |
|
Parkinsonism, Tremor, Depression, Weight loss, Dementia, Abnormality of extrapyramidal motor func... |
ORPHA:178509 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead... |
OMIM:609270 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Generalized dystonia, Dysphagia |
OMIM:619025 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Pontocerebellar Hypoplasia, Type 2A |
|
Restlessness, Chorea, Dysphagia, Opisthotonus, Seizure, Extrapyramidal dyskinesia, Dystonia |
OMIM:277470 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ... |
OMIM:620023 |
Nicolaides-Baraitser Syndrome |
|
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure |
ORPHA:3051 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Ataxia, Narcolepsy, Depression, Head tremor, Mental deterioration, Memory impairment |
ORPHA:314404 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Generalized-onset seizure, Tremor, Hypoesthesia, Obesity, Hemipares... |
OMIM:619737 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Axial hypotonia, Spastic tetraparesis, Hypotonia, Seizure, Dystonia |
OMIM:617668 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Broad-based gait, Gait ataxia, Distal sensory impairment, Sensory ataxia, Steppage gait, Difficul... |
OMIM:614895 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... |
OMIM:619751 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Dystonia-Deafness Syndrome 1 |
|
Generalized dystonia, Small for gestational age, Oculogyric crisis, Leg dystonia, Pseudobulbar pa... |
OMIM:607371 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Hypotonia, Dysmetria, Gait ataxia, Distal sensory impairment, Hype... |
OMIM:616505 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Absence seizure with eyelid myoclonia, Ataxia, Jaundice, Generalized non-motor (absence) seizure,... |
OMIM:613839 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Dementia, Parkinsonism, Paralysis |
OMIM:105500 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Seizure, Dementia, Gait disturbance, Decerebrate rigidity, Progre... |
ORPHA:512 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... |
OMIM:608768 |
Machado-Joseph Disease Type 3 |
|
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Dysp... |
ORPHA:276244 |
3-Methylglutaconic Aciduria, Type Viia |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... |
OMIM:619835 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Generalized h... |
OMIM:618060 |
Combined Oxidative Phosphorylation Deficiency 13 |
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Choreoathetosis, Axial hypotonia, Severe muscular hypotonia, Dystonia |
OMIM:614932 |
Developmental And Epileptic Encephalopathy 29 |
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Axial hypotonia, Chorea, Myoclonic seizure, Blepharospasm, Limb dystonia, Spasticity, Failure to ... |
OMIM:616339 |
Pyruvate Dehydrogenase E2 Deficiency |
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Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Dementia, Arm d... |
ORPHA:79244 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
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Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysphagia, Dysdiadochokinesis, D... |
OMIM:614381 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
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Hyperactivity, Generalized non-motor (absence) seizure, Tics, Inappropriate laughter, Low frustra... |
ORPHA:363686 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
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Axial dystonia, Dystonia, Tetraparesis, Generalized hypotonia, Dysphagia |
OMIM:618230 |
Marbach-Schaaf Neurodevelopmental Syndrome |
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Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Seizure, Attenti... |
OMIM:619680 |
Jaberi-Elahi Syndrome |
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Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w... |
OMIM:617988 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
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Hyperactivity, Aggressive behavior, Tremor, Hypotonia, Gait ataxia, Seizure, Abdominal obesity, G... |
OMIM:300354 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
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Epileptic spasm, Bilateral tonic-clonic seizure, Small for gestational age, Focal-onset seizure, ... |
ORPHA:289266 |
Choreoacanthocytosis |
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Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, ... |
ORPHA:2388 |
Benign Familial Neonatal-Infantile Seizures |
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Bilateral tonic-clonic seizure, Tonic seizure, Mental deterioration, Focal clonic seizure, Episod... |
ORPHA:140927 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
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Axial hypotonia, Ataxia, Generalized dystonia, Infantile spasms, Chorea, Spastic tetraplegia, Gai... |
OMIM:618321 |
Familial Paroxysmal Ataxia |
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Hemiplegia, Torticollis, Ataxia, Dystonia |
ORPHA:97 |
Siddiqi Syndrome |
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Seizure, Limb dystonia |
OMIM:618635 |
Larsen-Like Syndrome, Lethal Type |
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Tracheomalacia, Neonatal death, Respiratory insufficiency |
OMIM:245650 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
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Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Hypotonia, Seizure, Status ep... |
OMIM:620292 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... |
ORPHA:98795 |
3P25.3 Microdeletion Syndrome |
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Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Attention defici... |
ORPHA:435638 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
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Dystonia, Seizure, Agitation, Gait disturbance, Bruxism, Recurrent hand flapping |
OMIM:617903 |
Multiple System Atrophy |
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Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Glutaric Acidemia I |
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Rigidity, Spastic diplegia, Hypotonia, Opisthotonus, Choreoathetosis, Seizure, Generalized hypoto... |
OMIM:231670 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
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Choreoathetosis, Progressive spastic quadriplegia, Seizure, Nonprogressive cerebellar ataxia, Dys... |
ORPHA:431361 |
Early Infantile Epileptic Encephalopathy |
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Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Trem... |
ORPHA:1934 |
Proximal 16P11.2 Microduplication Syndrome |
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Tremor, Hypotonia, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Failu... |
ORPHA:370079 |
Autosomal Recessive Ataxia, Beauce Type |
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Impaired vibratory sensation, Lower limb spasticity, Short attention span, Ataxia, Babinski sign,... |
ORPHA:88644 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Short attention span, Exaggerated startle response, Broad-based gait, Ataxia, Severe muscular hyp... |
ORPHA:438216 |
Brain-Lung-Thyroid Syndrome |
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Short attention span, Hyperactivity, Incoordination, Ataxia, Involuntary movements, Dystonia, Abn... |
ORPHA:209905 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
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Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Small for gestational age, Inability to... |
ORPHA:79243 |
Poliomyelitis |
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Confusion, Anorexia, Paralysis, Paraparesis, Inability to walk, Irritability, Hyperkinetic moveme... |
ORPHA:2912 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Short attention span, Ataxia, Parkinsonism, Overweight, Paraparesis, Inability to walk, Obesity, ... |
ORPHA:2822 |
2Q23.1 Microdeletion Syndrome |
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Hyperactivity, Ataxia, Polyphagia, Hypotonia, Seizure, Self-injurious behavior, Abnormal repetiti... |
ORPHA:228402 |
Thanatophoric Dysplasia, Glasgow Variant |
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Neonatal death |
OMIM:273680 |
Kohlschutter-Tonz Syndrome |
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Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Seizure, Dementia |
OMIM:226750 |
Japanese Encephalitis |
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Dystonia, Weakness due to upper motor neuron dysfunction, Bilateral tonic-clonic seizure, Anorexi... |
ORPHA:79139 |
Developmental And Epileptic Encephalopathy 102 |
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Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... |
OMIM:619881 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
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Generalized-onset seizure, Confusion, Paralysis, Focal-onset seizure, Depression, Status epilepticus |
ORPHA:83601 |
Coenzyme Q10 Deficiency, Primary, 5 |
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Hypotonia, Seizure, Hypertonia, Generalized hypotonia, Dystonia |
OMIM:614654 |
Peroxisome Biogenesis Disorder 5B |
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Neonatal hypotonia, Ataxia, Tremor, Unsteady gait, Dysmetria, Generalized hypotonia, Oculomotor a... |
OMIM:614867 |
Developmental And Epileptic Encephalopathy 84 |
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Epileptic spasm, Axial hypotonia, Chorea, Babinski sign, Opisthotonus, Seizure, Generalized hypot... |
OMIM:618792 |
Variegate Porphyria |
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Paralysis |
OMIM:176200 |
Nmda Receptor Encephalitis |
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Generalized-onset seizure, Chorea, Opisthotonus, Choreoathetosis, Abnormal repetitive mannerisms,... |
ORPHA:217253 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
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Progressive neurologic deterioration, Tremor, Hypertonia, Gait disturbance, Photosensitive myoclo... |
ORPHA:1192 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Ataxia, Confusion, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Seizure... |
OMIM:105210 |
Mucolipidosis Iv |
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Progressive neurologic deterioration, Babinski sign, Hypotonia, Spastic tetraplegia, Generalized ... |
OMIM:252650 |
Hypermanganesemia With Dystonia 1 |
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Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
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Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Limb dystoni... |
OMIM:616840 |
Nipah Virus Disease |
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Tremor, Seizure, Myoclonus, Anorexia |
ORPHA:99825 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
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EEG with polyspike wave complexes, Seizure, Hyperactivity |
OMIM:617169 |
Cystathioninuria |
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Tremor, Seizure |
ORPHA:212 |
Optic Atrophy 11 |
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Hyperactivity, Ataxia, Gait apraxia, Hypotonia, Dysmetria, Athetosis, Seizure, Hyperkinetic movem... |
OMIM:617302 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
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Hypotonia, Truncal ataxia, Generalized hypotonia, Dystonia, Failure to thrive, Intention tremor |
OMIM:614407 |
Tick-Borne Encephalitis |
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Speech apraxia, Somatic sensory dysfunction, Incoordination, Generalized-onset seizure, Anorexia,... |
ORPHA:297 |
Combined Oxidative Phosphorylation Deficiency 10 |
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Small for gestational age, Hypotonia, Seizure, Dystonia, Spasticity, Failure to thrive |
OMIM:614702 |
Rett Syndrome, Congenital Variant |
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Dystonia, Chorea, Tongue thrusting, Bruxism, Athetosis, Seizure, Irritability, Generalized hypoto... |
OMIM:613454 |
Gm1-Gangliosidosis, Type Iii |
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Slurred speech, Ataxia, Dystonia |
OMIM:230650 |
Autosomal Dominant Spastic Paraplegia Type 9A |
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Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ... |
ORPHA:447753 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
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Tremor, Distal sensory impairment, Dysphagia |
OMIM:607734 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
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Impaired vibratory sensation, Impaired distal proprioception, Impaired pain sensation, Unsteady g... |
ORPHA:101097 |
Lissencephaly Due To Lis1 Mutation |
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Infantile spasms, Posterior predominant thick cortex pachygyria, Focal motor seizure, Opisthotonu... |
ORPHA:95232 |
Angelman Syndrome |
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Hyperactivity, Broad-based gait, Ataxia, Limb tremor, Hypotonia, Clumsiness, Obesity, Seizure, Pr... |
OMIM:105830 |
Mcleod Syndrome |
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Generalized-onset seizure, Chorea, Depression, Seizure, Compulsive behaviors, Dystonia, Impaired ... |
OMIM:300842 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
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Parkinsonism, Paraparesis, Frontotemporal dementia, Depression, Dementia, Tetraparesis, Extrapyra... |
OMIM:105550 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
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Choreoathetosis, Dystonia, Dysphagia, Limb hypertonia |
OMIM:618247 |
Isolated Atp Synthase Deficiency |
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Ataxia, Spastic paraplegia, Hypotonia, Tetraplegia, Myoclonic seizure, Seizure, Dystonia, Lethargy |
ORPHA:254913 |
Proximal 16P11.2 Microdeletion Syndrome |
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Speech apraxia, Obesity, Choreoathetosis, Seizure, Attention deficit hyperactivity disorder, Dyst... |
ORPHA:261197 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
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Vocal cord paralysis |
OMIM:607641 |
Oculopharyngodistal Myopathy |
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Oral-pharyngeal dysphagia, Fatigable weakness of bulbar muscles, Paraplegia, Weight loss, Difficu... |
ORPHA:98897 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
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Vocal cord paresis, Impaired distal vibration sensation, Impaired distal tactile sensation, Impai... |
OMIM:607706 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
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Epileptic spasm, Generalized non-motor (absence) seizure, Obesity, Depression, Seizure, Irritabil... |
ORPHA:96147 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
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Hyperactivity, Axial hypotonia, Ataxia, Broad-based gait, Tongue thrusting, Pica, Hypotonia, Unst... |
OMIM:617865 |
Gm1 Gangliosidosis |
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Generalized dystonia, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Dystonia, Tr... |
ORPHA:354 |
Lamb-Shaffer Syndrome |
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Hyperactivity, Ataxia, Hypotonia, Seizure, Abnormal temper tantrums, Abnormal repetitive manneris... |
ORPHA:530983 |
Kufor-Rakeb Syndrome |
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Eyelid apraxia, Short attention span, Parkinsonism, Confusion, Oculogyric crisis, Rigidity, Babin... |
ORPHA:306674 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... |
ORPHA:457351 |
Aceruloplasminemia |
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Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Lim... |
ORPHA:48818 |
Autosomal Recessive Spastic Paraplegia Type 35 |
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Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Babinski sign, Spastic paraple... |
ORPHA:171629 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
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Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep... |
OMIM:606002 |
Charcot-Marie-Tooth Disease And Deafness |
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Tremor, Steppage gait, Gait disturbance, Distal sensory impairment |
OMIM:118300 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
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Hemiplegia/hemiparesis, Chorea, Hypotonia, Choreoathetosis, Dystonia, Lethargy |
ORPHA:289916 |
Sneddon Syndrome |
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Tremor, Mental deterioration, Seizure, Impaired distal tactile sensation, Hemiplegia |
OMIM:182410 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
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Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Hypotonia, Obesity, Seizure, Compu... |
OMIM:618430 |
Gomez-Lopez-Hernandez Syndrome |
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Hyperactivity, Ataxia, Hypotonia, Depression, Seizure, Self-injurious behavior, Hypertonia, Cogni... |
OMIM:601853 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
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Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Hypotonia, Myoclonic seizure, Seizure, Irrit... |
OMIM:617186 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
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Ataxia, Paraparesis, Hypotonia, Choreoathetosis, Seizure, Tetraparesis |
ORPHA:27 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
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Short attention span, Hyperactivity, Aggressive behavior, Tremor, Bruxism, Generalized hypotonia,... |
OMIM:618342 |
Sialidosis Type 2 |
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Tremor, Seizure, Ataxia, Generalized hypotonia |
ORPHA:87876 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
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Epileptic spasm, Axial hypotonia, Vocal cord paralysis, Dysphagia, Seizure, Myoclonus, Dystonia, ... |
ORPHA:500144 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... |
OMIM:616586 |
Aminoacylase 1 Deficiency |
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Hyperactivity, Bilateral tonic-clonic seizure, Hypotonia, Seizure, Generalized hypotonia |
OMIM:609924 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
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Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Agenesis of corpus callo... |
OMIM:615802 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
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Appendicular spasticity, Epileptic spasm, Axial hypotonia, Dysphagia, Seizure, Myoclonus, Dystonia |
OMIM:617669 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
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Hypoesthesia, Vocal cord paralysis, Hand paresthesia |
OMIM:162500 |
Autosomal Recessive Cutis Laxa Type 2A |
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Generalized-onset seizure, Ataxia, Inability to walk, Slurred speech, Hypotonia, Athetosis, Seizu... |
ORPHA:357058 |
Congenital Bile Acid Synthesis Defect Type 4 |
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Ataxia, Tremor, Depression, Seizure, Mental deterioration, Memory impairment |
ORPHA:79095 |
Lesch-Nyhan Syndrome |
|
Hypotonia, Dysphagia, Opisthotonus, Choreoathetosis, Seizure, Self-injurious behavior, Abnormalit... |
OMIM:300322 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Generalized non-motor (absence) seizure |
OMIM:300801 |
Niemann-Pick Disease, Type C2 |
|
Ataxia, Hypotonia, Dysphagia, Seizure, Dementia, Dystonia, Cataplexy, Spasticity, Abnormal repeti... |
OMIM:607625 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Hypotonia, At... |
OMIM:615356 |
Aicardi-Goutieres Syndrome 4 |
|
Seizure, Spasticity, Dystonia |
OMIM:610333 |
48,Xxyy Syndrome |
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Ataxia, Tremor, Hypotonia, Obesity, Depression, Seizure, Attention deficit hyperactivity disorder... |
ORPHA:10 |
Hyperlysinemia |
|
Short attention span, Neck hypertonia, Hyperactivity, Poor motor coordination, Spastic tetrapares... |
ORPHA:2203 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Hypotonia, Seizure, Generalized hypotonia, Dystonia, Lethargy |
OMIM:277410 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Primary Progressive Freezing Gait |
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Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Dementia, Gait imb... |
ORPHA:75567 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Spasticity, Dementia, Dysphagia, Dystonia |
OMIM:607236 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dysphagi... |
OMIM:620358 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Seizure, Vocal cord paralysis, Dysphagia |
ORPHA:397744 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Multifocal seizures, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Dysphag... |
ORPHA:572798 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Seizure, Agenesis of corpus callosum, Generalized non-motor (absence) seizure |
OMIM:612337 |
Hypokalemic Periodic Paralysis |
|
Fatigable weakness of respiratory muscles, Periodic hypokalemic paresis, Respiratory paralysis, P... |
ORPHA:681 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Small for gestational age, Generalized myoclonic seizure, Infantil... |
ORPHA:404454 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Serotonin Syndrome |
|
Restlessness, Clonus, Confusion, Tremor, Rigidity, Seizure, Irritability, Hypertonia, Agitation, ... |
ORPHA:43116 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Chorea, Typ... |
OMIM:619777 |
Episodic Ataxia, Type 2 |
|
Episodic ataxia, Progressive cerebellar ataxia, Paresthesia, Dystonia |
OMIM:108500 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G... |
ORPHA:206594 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Axial hypotonia, Choreoathetosis, Lower limb hypertonia, Generalized hypotonia, Limb dystonia, Fa... |
ORPHA:319514 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Seizure, Dementia, My... |
OMIM:616640 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Steppage gait, Distal sensory impairment |
OMIM:302802 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Ataxia, Involuntary movements, Inability to walk, Chorea, Hypotonia, Bruxism, Seizure, Dystonia, ... |
OMIM:617804 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ... |
OMIM:609454 |
Mercury Poisoning |
|
Confusion, Anorexia, Tremor, Seizure, Dystonia |
ORPHA:330021 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Spasticity, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:616277 |
Dpm1-Cdg |
|
Early onset absence seizures, Elevated hepatic transaminase, Ataxia, Seizure, Generalized myoclon... |
ORPHA:79322 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Small for gestati... |
OMIM:617799 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... |
OMIM:301091 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Oculopharyngodistal Myopathy 3 |
|
Tremor, Ataxia, Dysphagia |
OMIM:619473 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Pachygyria, Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, Seiz... |
ORPHA:258 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Hypoventilation, Breathing dysregulation |
OMIM:618232 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Diabetes mellitus, Aggressive behavior, Depression, Irritabi... |
ORPHA:449291 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Myocl... |
OMIM:614207 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Axial dystonia, Seizure, Spastic paraplegia, Failure to thrive in infancy |
OMIM:619026 |
Porphyria, Acute Intermittent |
|
Paralysis, Depression, Seizure, Respiratory paralysis, Paresthesia |
OMIM:176000 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ataxia, Bilateral tonic-clonic seizure, Large for gestational age, Generalized non-motor (absence... |
OMIM:615398 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Failure to thrive in infancy, Chorea, Hemiparesis, Seizure, Dystonia, Neonatal hypotonia |
OMIM:618829 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal circulating enzyme concentration or activity, Confusion, Abnormal erythroc... |
ORPHA:100924 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Clonus, Oral-pharyngeal dysphagia, Poor coordination, Spastic tetraplegia, Spastic dipleg... |
OMIM:616878 |
Filippi Syndrome |
|
Seizure, Decreased body weight, Dystonia |
OMIM:272440 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Axial hypotonia, Ataxia, Clonus, Infantile spasms, Generalized dystonia, Babinski sign, Opisthoto... |
OMIM:618076 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Torticollis, Pain insensitivity, Bilateral tonic-clonic seizure, Infantile spasms, Inability to w... |
OMIM:620224 |
Insulinoma |
|
Tremor, Increased body weight, Seizure, Transient global amnesia, Paresthesia, Abnormality of pai... |
ORPHA:97279 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Irritabil... |
OMIM:601104 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Bilateral tonic-clonic seizure, Reduced beta-hexosaminidase... |
OMIM:268800 |
Ddost-Cdg |
|
Tremor, Oromotor apraxia, Seizure, Generalized hypotonia, Failure to thrive |
ORPHA:300536 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Obesity, Seizure, Attention deficit hyperactivity disorder |
OMIM:301013 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Hypotonia, Opisthotonus, Choreoathetosis, Seizure, Hyperkinetic movements, Myoclo... |
OMIM:616271 |
Dilated Cardiomyopathy With Ataxia |
|
Lower limb spasticity, Ataxia, Repetitive compulsive behavior, Seizure, Dystonia, Neonatal hypoto... |
ORPHA:66634 |
Developmental And Epileptic Encephalopathy 93 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... |
OMIM:618012 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Short attention span, Torticollis, Infantile axial hypotonia, Focal-onset seizure... |
ORPHA:300570 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Seizure, Depression |
OMIM:620114 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Epilepsia partialis continua, Ataxia, Paralysis, Hypotonia, Hypertonia, Dementia, Myoclonus, Tetr... |
OMIM:203700 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ataxia, Tremor, Hypotonia, Seizure, Generalized hypotonia, Failure to thrive |
OMIM:608799 |
Chromosome 22Q13 Duplication Syndrome |
|
Short attention span, Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention ... |
OMIM:615538 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Restlessness, Hyperactivity, Pain insensitivity, Facial hypotonia, Tonic seizure, Aggressive beha... |
OMIM:300534 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Infantile spasms, Spastic tetraparesis, Dystonia |
ORPHA:404451 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Writer's cramp, Fatigable weakness of distal limb muscles, Impaired vibration sensation in the lo... |
ORPHA:324442 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Dystonia, Ataxia, Bilateral tonic-... |
ORPHA:496641 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Bilateral tonic-clonic seizure, Unsteady gait, Generalized non-motor (absence) seizure, Irritabil... |
OMIM:617798 |
Progressive Non-Fluent Aphasia |
|
Astrocytosis |
ORPHA:100070 |
Developmental And Epileptic Encephalopathy 106 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure |
OMIM:620028 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Progressive neurologic d... |
OMIM:614947 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Respiratory failure, Death in childhood |
OMIM:619334 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Infantile spasms, Tonic seizure, EEG with burst suppression, Hypsarrhythmia, Seizure |
OMIM:619239 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Decreased body mass index, Confusion, Aggressive behavior, Tremor, A... |
ORPHA:247585 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Dystonia |
OMIM:250850 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Depression, Distal sensory impairment,... |
OMIM:617675 |
Birk-Landau-Perez Syndrome |
|
Axial hypotonia, Facial hypotonia, Failure to thrive in infancy, Limb ataxia, Choreoathetosis, Ap... |
OMIM:617595 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Weight loss, Periodic paralysis |
OMIM:613239 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Seizure, Spasticity, Hypotonia, Dystonia |
OMIM:619286 |
East Syndrome |
|
Generalized-onset seizure, Ataxia, Salt craving, Inability to walk, Seizure, Difficulty walking, ... |
ORPHA:199343 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Dysphagia, Paralysis |
ORPHA:230800 |
Cimdag Syndrome |
|
Ataxia, Chorea, Hypotonia, Seizure, Dystonia, Spasticity |
OMIM:619273 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Dystonia 21 |
|
Blepharospasm, Torticollis, Laryngeal dystonia |
OMIM:614588 |
Familial Cervical Artery Dissection |
|
Paresthesia, Paralysis |
ORPHA:36382 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Tremor, Hypotonia, Seizure, Status epilepticus, Myoclonus, Dysphagia, Loss of ambulation,... |
OMIM:607426 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Axial hypotonia, Facial-lingual fasciculations, Bilateral tonic-clo... |
OMIM:617281 |
Pontocerebellar Hypoplasia, Type 17 |
|
Paroxysmal dystonia, Axial hypotonia, Spastic tetraplegia, Seizure, Dysphagia, Limb hypertonia |
OMIM:619909 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Axial hypotonia, Head titubation, Vestibular areflexia, Spastic tetraplegia, Seizure, Dystonia |
ORPHA:3240 |
Gitelman Syndrome |
|
Salt craving, Ataxia, Paralysis, Seizure, Paresthesia, Polydipsia, Failure to thrive |
OMIM:263800 |
Cerebrotendinous Xanthomatosis |
|
Abnormal pyramidal sign, Progressive psychomotor deterioration, Ataxia, Parkinsonism, Depression,... |
ORPHA:909 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure, Late... |
OMIM:600721 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Infantile spasms, Aggressive behavior, Tremor, Hypotonia, Seizure, Hypertonia, Generalized hypotonia |
OMIM:608093 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Pica, Seizure, Agenesis of corpus callosum, Generalized non-motor (absence) seizure |
OMIM:617360 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Sialidosis Type 1 |
|
Ataxia, Tremor, Slurred speech, Hypotonia, Seizure, Gait disturbance, Myoclonus |
ORPHA:812 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... |
OMIM:208900 |
Lipoyltransferase 1 Deficiency |
|
Axial hypotonia, Spastic tetraparesis, Hypotonia, Abnormality of extrapyramidal motor function, D... |
OMIM:616299 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Seizure, Low frustration tolerance, Generalized hypotonia, Spasticity... |
OMIM:300486 |
Familial Infantile Myoclonic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... |
ORPHA:352582 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Epileptic spasm, Generalized-onset seizure, Small for gestational age, Bilateral tonic-clonic sei... |
OMIM:620024 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus,... |
OMIM:254900 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Impaired distal proprioception |
ORPHA:231445 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Small for gestational age, Hypotonia, Seizure, Myoclonus, Dystonia |
OMIM:620167 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Dementia, Fasciculations,... |
ORPHA:329478 |
Early-Onset Lafora Body Disease |
|
Ataxia, Confusion, Spastic tetraparesis, Seizure, Myoclonus, Mental deterioration |
ORPHA:324290 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Ataxia, Infantile spasms, Generalized clonic seizure, Tremor, Anorexia, Abnorm... |
ORPHA:3008 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Dysphagia, Gait ataxi... |
ORPHA:255210 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Babinski sign, Seizure, Dystonia, Spasticity |
OMIM:618186 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Hypotonia, Obesity, Seizure, Gait imbalance, At... |
OMIM:619312 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Ataxia, Small for gestational age, Hypotonia, Dysphagia, Choreoathetosis, Seizure, Dystonia, Fail... |
OMIM:615471 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Clonic seizure, Hypertonia, Tics, Compulsive behaviors, Decreased body weight, Abnormal r... |
OMIM:619475 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypotonia, Ankle clonus, Seizure, Falls, Difficulty walking, Dystonia |
OMIM:618222 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ataxia, Hypotonia, Seizure, Myoclonus, Dystonia |
OMIM:619167 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Obesity, Generalized non-motor (absence) sei... |
ORPHA:466943 |
Xeroderma Pigmentosum, Complementation Group F |
|
Tremor, Dementia, Ataxia, Decreased body weight |
OMIM:278760 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Epileptic spasm, Dystonia, Infantile spasms, Generalized hypotonia, Decreased body weight |
OMIM:607906 |
Developmental And Epileptic Encephalopathy 8 |
|
Frontal polymicrogyria, Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizu... |
OMIM:300607 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Vocal cord paralysis, Hypotonia, Dysphagia, Clumsiness, Ankle clonus, Tongue fasciculatio... |
OMIM:211530 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Axial hypotonia, Spastic tetraparesis, Babinski sign, Hypotonia, Bradykinesia, Seizure, Dystonia,... |
OMIM:614924 |
Propionic Acidemia |
|
Axial hypotonia, Seizure, Dystonia, Lethargy, Failure to thrive, Limb hypertonia |
OMIM:606054 |
Pineoblastoma |
|
Progressive neurologic deterioration, Paralysis, Seizure, Cognitive impairment, Memory impairment... |
ORPHA:251909 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Hyperactivity, Clonus, Babinski sign, Spasti... |
OMIM:609727 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Cerebral palsy, Ataxia, Abnormal central motor function, Hypotonia, Hypertonia, Sp... |
ORPHA:760 |
Arachnoid Cyst |
|
Paraparesis, Inability to walk, Slurred speech, Depression, Hemiparesis, Social and occupational ... |
ORPHA:2356 |
Argininemia |
|
Hyperactivity, Anorexia, Progressive spastic quadriplegia, Seizure, Irritability, Spastic parapar... |
OMIM:207800 |
Snakebite Envenomation |
|
Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Paralysis |
ORPHA:449285 |
4Q21 Microdeletion Syndrome |
|
Tremor, Hypotonia, Seizure, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:238750 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Dysesthesia, Vocal cord paralysis, Depression, Weight loss, Seizure |
ORPHA:221098 |
Congenital Myopathy 15 |
|
Waddling gait, Vocal cord paralysis, Hypotonia |
OMIM:620161 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Tremor, Gait ataxia, Seizure, Compulsive behaviors, Attention deficit hypera... |
ORPHA:476126 |
Aicardi-Goutieres Syndrome 1 |
|
Axial hypotonia, Inability to walk, Seizure, Abnormality of extrapyramidal motor function, Dyston... |
OMIM:225750 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Pain insensitivity, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive beh... |
OMIM:620330 |
African Trypanosomiasis |
|
Somatic sensory dysfunction, Akinesia, Aggressive behavior, Tremor, Narcolepsy, Jaundice, Impaire... |
ORPHA:3385 |
Leigh Syndrome |
|
Dystonia, Ataxia, Involuntary movements, Progressive neurologic deterioration, Infantile spasms, ... |
ORPHA:506 |
Aicardi-Goutieres Syndrome 9 |
|
Axial hypotonia, Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Weight loss, Seizur... |
OMIM:619487 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Head titubation, Dysmetria, Dysphagia, Seizure, Dystonia, Intention tremor |
OMIM:619708 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Lower limb spasticity, Involuntary movements, Babinski sign, Leg dystonia, Ankle clonus, Seizure,... |
ORPHA:565624 |
Leber Optic Atrophy |
|
Postural tremor, Ataxia, Dystonia |
OMIM:535000 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations, Dysphagia |
OMIM:313200 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Spasticity, Ataxia, Dystonia |
OMIM:617341 |
Alg3-Cdg |
|
Spastic tetraparesis, Hypotonia, Seizure, Hypertonia, Dystonia |
ORPHA:79321 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Rigidity, Hypotonia, Progressive spastic quadriplegia, Seizure, Abn... |
ORPHA:521426 |
Tay-Sachs Disease |
|
Psychomotor deterioration, Seizure, Exaggerated startle response, Dementia |
OMIM:272800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Inability to walk, Broad-based gait, Vocal cord paralysis, Hypotonia |
OMIM:615490 |
Coach Syndrome 1 |
|
Ataxia, Hypotonia, Seizure, Generalized hypotonia, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:216360 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Generalized-onset seizure, Abnormal cortical gyration, Seizure, Cog... |
OMIM:617527 |
Wieacker-Wolff Syndrome |
|
Dystonia, Hypotonia, Seizure, Generalized hypotonia, Apraxia, Oculomotor apraxia, Spasticity |
OMIM:314580 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations, Pa... |
ORPHA:682 |
Bilateral Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, 4-layered lissencephaly, Infantile spa... |
ORPHA:268940 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Aggressive behavior, Tremor, Hypotonia, Dysphagia, Seizure, Self-injurious be... |
OMIM:617061 |
Alexander Disease |
|
Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Hypotonia, Tetraplegia, Depression, Seiz... |
ORPHA:58 |
Graves Disease, Susceptibility To, 1 |
|
Irritability, Hyperactivity, Polyphagia |
OMIM:275000 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz... |
ORPHA:466950 |
Wolfram Syndrome 1 |
|
Tremor, Seizure, Ataxia, Dysphagia |
OMIM:222300 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Progressive neurologic deterioration, Large for gestational age, Tremor, Increased body weight, S... |
ORPHA:263455 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Reduced beta-hexosaminidase activit... |
ORPHA:309155 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Speech apraxia, Short attention span, Bradyphrenia, Hyperactivity, Facial hypotonia, Obesity, Poo... |
ORPHA:589821 |
Amyotrophic Dystonic Paraplegia |
|
Spastic paraplegia, Dystonia |
OMIM:105300 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Aggressive behavior, Impaired pain sensation, Narcolepsy, Obesity,... |
ORPHA:293987 |
Pseudo-Torch Syndrome 1 |
|
Axial hypotonia, Hypotonia, Seizure, Dystonia, Spasticity, Failure to thrive |
OMIM:251290 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Tremor, Hypotonia, Seizure, Cognitive impairmen... |
OMIM:610505 |
Leukodystrophy, Hypomyelinating, 13 |
|
Irritability, Exaggerated startle response, Failure to thrive, Ataxia |
OMIM:616881 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Dysphagia |
OMIM:619790 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Dystonia, Ataxia, Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Seizure, Gait disturbance,... |
OMIM:300966 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Seizure, Abnormality of extrapyram... |
OMIM:612199 |
Charcot-Marie-Tooth Disease Type 4C |
|
Failure to thrive, Impaired pain sensation, Inability to walk, Impaired distal vibration sensatio... |
ORPHA:99949 |
Tyrosinemia Type 2 |
|
Tremor, Seizure, Ataxia |
ORPHA:28378 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypotonia, Periodic paralysis |
OMIM:170400 |
Foodborne Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Dysphagia, Paralysis |
ORPHA:228371 |
Lipoid Proteinosis |
|
Seizure, Dysphagia, Dystonia |
ORPHA:530 |
Weaver Syndrome |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Lateral ventric... |
OMIM:277590 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Seizure, Abnormality of extrapyramidal motor function, Self-mutilation, Dystonia |
ORPHA:79233 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Failure to thrive, Status epilepticus, Myoclonus |
OMIM:618201 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesi... |
ORPHA:309854 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Axial hypotonia, Seizure, Generalized hypotonia, Dystonia, Limb hypertonia |
OMIM:616875 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Pachygyria, Repetitive compulsive behavior, Gen... |
ORPHA:513456 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Hypotonia, Dysmetria |
OMIM:615578 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Head titubation, Babinski sign, Spastic diplegia, Ankle clonus, Spasticity, Craniofacial dystonia |
OMIM:619691 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seizure, Obesity, B... |
OMIM:615873 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Broad-based gait, Cachexia, Aggressive behavior, Tremor, Obesity, Seizure |
ORPHA:85293 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Failure to thrive, Ataxia, Tremor, Rigidity, Dysphagia, Cogwheel rigidity, Gait a... |
ORPHA:254892 |
Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Infantile spasms, Paraparesis, Focal-onset seizure, Oromotor apraxia, Spas... |
ORPHA:98889 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Broad-based gait, Ataxia, Hypotonia, Choreoathetosis, Generalized hypotonia, Dystonia, Difficulty... |
OMIM:610978 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Axial hypotonia, Clonus, Tremor, Clonic seizure, Spastic tetraplegi... |
OMIM:615574 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Axial hypotonia, Tremor, Myoclonic seizure, Fasciculations, Limb hy... |
OMIM:620327 |
Joubert Syndrome With Renal Defect |
|
Ataxia, Tremor, Hypotonia, Seizure, Gait disturbance, Oculomotor apraxia |
ORPHA:220497 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, Focal impaired awareness seizure, Generalized tonic seizure |
ORPHA:163985 |
Kinsship Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... |
OMIM:619297 |
Acute Intermittent Porphyria |
|
Restlessness, Somatic sensory dysfunction, Confusion, Tremor, Depression, Seizure, Pseudobulbar p... |
ORPHA:79276 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Seizure, Spasticity, Generalized hypotonia, Dystonia |
OMIM:616811 |
Fucosidosis |
|
Mental deterioration, Spastic tetraplegia, Hypotonia, Seizure, Dystonia, Hemiplegia, Failure to t... |
OMIM:230000 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Hypotonia, Generalized hypotonia, Paralysis |
OMIM:612300 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Dystonia, Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkine... |
ORPHA:522077 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short attention span, Dystonia, Aggressive behavior, Unsteady gait, Choreoathetosis, Seizure, Hyp... |
ORPHA:17 |
Filippi Syndrome |
|
Hypotonia, Paraplegia, Seizure, Limb dystonia, Spasticity |
ORPHA:3255 |
Joubert Syndrome |
|
Ataxia, Tremor, Hypotonia, Seizure, Gait disturbance, Oculomotor apraxia |
ORPHA:475 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tremor, Inability to walk, Vocal cord paralysis, Distal sensory impairment, Poor fine motor coord... |
ORPHA:99956 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Inability to walk, Babinski si... |
ORPHA:466768 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Unsteady gait, Distal sensory impairment, Dementia, Difficulty walking, Dysphagia, Vocal cord par... |
ORPHA:600 |
Narcolepsy 7 |
|
Narcolepsy, Obesity |
OMIM:614250 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Tremor, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdia... |
ORPHA:502423 |
Complex Regional Pain Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Dysesthesia, Trophic changes related to pain,... |
ORPHA:83452 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Ataxia, Small for gestational age, Tremor, Hypotonia, Seizure, Generalized hypotonia, Failure to ... |
OMIM:614052 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Tremor, Irritability, Emotional lability, Failure to thrive |
OMIM:201100 |
3-Methylglutaconic Aciduria, Type Viii |
|
Clonus, Tremor, Hypotonia, Dysphagia, Seizure, Hypertonia, Generalized hypotonia, Dystonia, Failu... |
OMIM:617248 |
Developmental And Epileptic Encephalopathy 89 |
|
Epileptic spasm, Axial hypotonia, Bilateral tonic-clonic seizure with generalized onset, Myocloni... |
OMIM:619124 |
Non-Functioning Paraganglioma |
|
Tremor, Vocal cord paralysis, Weight loss |
ORPHA:94080 |
48,Xxxy Syndrome |
|
Tremor, Hypotonia, Obesity, Seizure, Irritability, Attention deficit hyperactivity disorder, Abno... |
ORPHA:96263 |
Paramyotonia Congenita Of Von Eulenburg |
|
Neonatal hypotonia, Periodic hypokalemic paresis, Dysphagia |
ORPHA:684 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic se... |
ORPHA:2072 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance |
ORPHA:83629 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Seizure, Hyperactivity, Ataxia, Emotional lability |
OMIM:620047 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Tonic seizure, Seizure, Lateral ventricle dilatation, Irritability,... |
OMIM:618367 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, H... |
ORPHA:447997 |
Stiff-Person Syndrome |
|
Depression, Exaggerated startle response, Myoclonic spasms, Opisthotonus |
OMIM:184850 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Obesity, Low alkaline ph... |
ORPHA:369837 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Self-mutilation, Ataxia, Seizure, Bruxism, Limb hypertonia, Cerebral palsy, Axial hypotonia, Foca... |
OMIM:619950 |
Joubert Syndrome With Ocular Defect |
|
Ataxia, Tremor, Hypotonia, Seizure, Gait disturbance, Oculomotor apraxia |
ORPHA:220493 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Somatic sensory dysfunction, Anorexia, Impaired tactile sensation, Hyperesthesia, Decreased body ... |
ORPHA:51890 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Facial hypotonia, Tremor, Hypotonia, Tip-toe gait, Attention deficit hyperactivity... |
OMIM:617557 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Periodic paralysis |
OMIM:188580 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Progressive neurologic deterioration, Tremor, Rigidity, Hypertonia, Dementia, Spasticity |
OMIM:176500 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:618832 |
Polyendocrine-Polyneuropathy Syndrome |
|
Abnormal pyramidal sign, Ataxia, Dystonia |
ORPHA:453533 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus |
OMIM:618314 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Small for gestational age, Ataxia, Failure to thrive in infancy, Aggressive beh... |
ORPHA:268261 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Ataxia, Generalized non-motor (absence) seizure, Depression, Decreased liver function, Attention ... |
ORPHA:77293 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Broad-based gait, Pain insensitivity, Ataxia, Hypotonia, Distal sensory impairment, Painless frac... |
OMIM:256810 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Broad-based gait, Aggress... |
OMIM:614756 |
Leukodystrophy, Progressive, Early Childhood-Onset |
|
Appendicular spasticity, Axial hypotonia, Dystonia |
OMIM:617762 |
Dpagt1-Cdg |
|
Epileptic spasm, Ataxia, Infantile axial hypotonia, Akinesia, Aggressive behavior, Tremor, Inabil... |
ORPHA:86309 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Vocal cord paralysis, Hypotonia, Obesity, Tip-toe gait, Gait disturbance |
ORPHA:98863 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Vocal cord paresis, Steppage gait, Positive Romberg sign, Distal sensory impairment |
OMIM:601152 |
Galloway-Mowat Syndrome 1 |
|
Axial hypotonia, Ataxia, Small for gestational age, Spastic tetraplegia, Hypotonia, Seizure, Dyst... |
OMIM:251300 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Vocal cord paralysis, Hypotonia, Obesity, Tip-toe gait, Gait disturbance |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Vocal cord paralysis, Hypotonia, Obesity, Tip-toe gait, Gait disturbance |
ORPHA:98853 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia, Seizure, Abnormality of extrapyramidal motor function, De... |
ORPHA:79255 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Generalized-onset seizure, Aggressive behavior, Hypotonia, Obesity, Seizure, Self-... |
OMIM:616078 |
Kallmann Syndrome |
|
Ataxia, Tremor, Hypotonia, Paraplegia, Obesity, Seizure, Gait disturbance |
ORPHA:478 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Tetanus |
|
Tremor, Rigidity, Opisthotonus, Hypertonia, Dysphagia, Spasticity of pharyngeal muscles |
ORPHA:3299 |
Laryngeal Abductor Paralysis |
|
Vocal cord paralysis, Dysphagia |
OMIM:150260 |
Hyperekplexia 3 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Ataxia, Inability to walk, Hypotonia, Seizure, Dystonia, Failure to thrive |
OMIM:620083 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Triosephosphate Isomerase Deficiency |
|
Tremor, Unsteady gait, Hypotonia, Generalized hypotonia, Dystonia, Spasticity, Failure to thrive |
OMIM:615512 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Thyrotoxic Periodic Paralysis |
|
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... |
ORPHA:79102 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation |
ORPHA:424 |
Beta-Ureidopropionase Deficiency |
|
Hypotonia, Seizure, Status epilepticus, Dystonia, Neonatal hypotonia |
OMIM:613161 |
Cockayne Syndrome Type 3 |
|
Splenomegaly, Astrocytosis |
ORPHA:90324 |
Aicardi-Goutières Syndrome |
|
Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Tremor, Hemiplegia/hemiparesis, Abno... |
ORPHA:51 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Agyria, Seizure, Lissencephaly, Pachygyria, Agenesis of corpus call... |
OMIM:253800 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Seizure, Hypertonia, Hemiplegia, Spasticity |
ORPHA:2396 |
Wilson Disease |
|
Dystonia, Poor motor coordination, Tremor, Rigidity, Hypoesthesia, Hand tremor, Dysphagia, Seizur... |
OMIM:277900 |
Arnold-Chiari Malformation Type I |
|
Somatic sensory dysfunction, Dysesthesia, Babinski sign, Vocal cord paralysis, Gait ataxia, Progr... |
ORPHA:268882 |
Slc39A8-Cdg |
|
Severe muscular hypotonia, Failure to thrive in infancy, Inability to walk, Seizure, Dystonia |
ORPHA:468699 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Cognitive impairment |
OMIM:146500 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Mental deterioration, Generalized dystonia, Dysphagia |
ORPHA:79107 |
Mucopolysaccharidosis Type 3 |
|
Hyperactivity, Ataxia, Progressive neurologic deterioration, Aggressive behavior, Hypersexuality,... |
ORPHA:581 |
Alobar Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Oromotor apraxia, Depression, Seizure, Irrita... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Oromotor apraxia, Depression, Seizure, Irrita... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Oromotor apraxia, Depression, Seizure, Irrita... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Oromotor apraxia, Depression, Seizure, Irrita... |
ORPHA:220386 |
Rift Valley Fever |
|
Anorexia, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity |
ORPHA:319251 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vocal cord paralysis |
OMIM:601650 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Somatic sensory dysfunction, Fasciculations |
ORPHA:99965 |
Cadds |
|
Seizure, Dystonia |
ORPHA:369942 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Involuntary movements, Babinski sign, Ankle clonus, Dystonia, Spasticity |
OMIM:618397 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Dystonia |
OMIM:616113 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Axial hypotonia, Limb dystonia |
OMIM:620269 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Axial hypotonia, Parkinsonism, Oculogyric crisis, Tremor, Irritability, Hypertonia |
ORPHA:1578 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Vocal cord paralysis, Dysphagia |
ORPHA:142 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Confusion, Tremor, Hypotonia, Seizure, Dementia, Abnormality of extrapyramidal motor function, Ge... |
OMIM:277400 |
Purine Nucleoside Phosphorylase Deficiency |
|
Ataxia, Tremor, Spastic diplegia, Hypotonia, Tetraparesis, Generalized hypotonia, Failure to thrive |
OMIM:613179 |
Hyperekplexia 1 |
|
Seizure, Exaggerated startle response, Myoclonus, Nocturnal seizures |
OMIM:149400 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Impaired pain sensation, Inability to walk, Typical absence seizure, Seizure, Gray matter heterot... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Impaired pain sensation, Inability to walk, Typical absence seizure, Seizure, Gray matter heterot... |
ORPHA:352665 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Seizure, Periodic paralysis |
ORPHA:37553 |
Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Ataxia, Tremor, Hypotonia, Seizure, Gait disturbance, Difficulty walking, ... |
ORPHA:90321 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Ataxia |
ORPHA:713 |
Aicardi-Goutieres Syndrome 7 |
|
Lower limb spasticity, Axial hypotonia, Spastic tetraparesis, Hypotonia, Tetraplegia, Weight loss... |
OMIM:615846 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Idiopathic Camptocormia |
|
Parkinsonism, Fatigable weakness of skeletal muscles, Frontotemporal dementia, Abnormal synaptic ... |
ORPHA:1320 |
Hermansky-Pudlak Syndrome 10 |
|
Axial hypotonia, Bilateral tonic-clonic seizure, Generalized hypotonia, Dystonia, Focal myoclonic... |
OMIM:617050 |
Orofaciodigital Syndrome Type 6 |
|
Ataxia, Tremor, Hypotonia, Seizure, Gait disturbance, Generalized hypotonia, Failure to thrive |
ORPHA:2754 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Seizure, Typical absence seizure |
OMIM:618343 |
Encephalitis Lethargica |
|
Tremor, Seizure, Mental deterioration, Parkinsonism |
ORPHA:83600 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor, Weight loss |
ORPHA:99819 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking |
ORPHA:320406 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Depression, Fatigable weakness, Paresthesia, Emotional lability, Cortical myoclonus |
ORPHA:428 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Generalized non-motor (absence) seizure |
ORPHA:293978 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Neonatal hypotonia, Seizure, Dystonia |
ORPHA:457193 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Legius Syndrome |
|
Short attention span, Hyperactivity, Dystonia, Hypotonia, Seizure, Attention deficit hyperactivit... |
ORPHA:137605 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Axial hypotonia, Tetraplegia, Seizure, Irritability, Myoclonus, Dystonia, Failure to thrive |
OMIM:618278 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
Igg4-Related Pachymeningitis |
|
Somatic sensory dysfunction, Confusion, Paraparesis, Seizure, Dysphagia, Mental deterioration |
ORPHA:449427 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Hypotonia, Dystonia |
OMIM:614105 |
Methylmalonic Aciduria, Cbla Type |
|
Tremor, Hypotonia, Seizure, Generalized hypotonia, Failure to thrive |
OMIM:251100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Generalized-onset seizure, Ataxia, Dystonia, Small for gestational age, Tremor, Hypotonia, Dysmet... |
OMIM:220111 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Axial hypotonia, Ataxia, Impulsivity, Aggressive behavior, Tremor, Hypotonia, Sei... |
OMIM:300967 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Truncal obesity,... |
OMIM:612474 |
Hyperekplexia 2 |
|
Exaggerated startle response, Myoclonus |
OMIM:614619 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Chediak-Higashi Syndrome |
|
Tremor, Seizure, Ataxia, Gait disturbance |
OMIM:214500 |
Gitelman Syndrome |
|
Salt craving, Paralysis, Focal-onset seizure, Paresthesia, Polydipsia, Failure to thrive |
ORPHA:358 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short attention span, Focal-onset seizure, Typical absence seizure, Obesity, Failure to thrive, A... |
OMIM:617157 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Cocaine Intoxication |
|
Bilateral tonic-clonic seizure, Involuntary movements, Tremor, Focal-onset seizure, Atypical abse... |
ORPHA:90068 |
Van Esch-O'Driscoll Syndrome |
|
Impulsivity, Unilateral vocal cord paralysis, Hypotonia, Seizure, Attention deficit hyperactivity... |
OMIM:301030 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Lethargy, Hypotonia, Limb dystonia |
OMIM:604377 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Vocal cord paralysis, Weight loss |
ORPHA:276621 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Tremor, Babinski sign, Hypotonia, Irritability, Hypertonia, Spasticity, Failure to thrive |
OMIM:616539 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Generalized-onset seizure, Failure to thrive in infancy, Dysplastic corpus callosum, Generalized ... |
ORPHA:500150 |
Blepharonasofacial Malformation Syndrome |
|
Torsion dystonia |
ORPHA:1252 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Epileptic spasm, Dystonia, Involuntary movements, Broad-based gait,... |
ORPHA:438213 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Depression, Periodic hypokalemic paresis, Periodic paralysis |
OMIM:170390 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Acute Transverse Myelitis |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Dysesthesia, Paraparesis, Dissociated ... |
ORPHA:139417 |
Monosomy 18P |
|
Generalized dystonia, Hypotonia |
ORPHA:1598 |
Holoprosencephaly |
|
Failure to thrive in infancy, Chorea, Hypotonia, Seizure, Cognitive impairment, Dystonia, Spasticity |
ORPHA:2162 |
Neuroleptic Malignant Syndrome |
|
Extrapyramidal muscular rigidity, Oculogyric crisis, Tremor, Chorea, Agitation, Dysphagia, Delirium |
ORPHA:94093 |
Chromosome 18P Deletion Syndrome |
|
Small for gestational age, Hypotonia, Dystonia |
OMIM:146390 |
Distal Renal Tubular Acidosis |
|
Polydipsia, Failure to thrive, Paralysis |
ORPHA:18 |
Sotos Syndrome |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Generalized non-motor (absence) seiz... |
ORPHA:821 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Facial hypotonia, Small for gestational age, Oral-pharyngeal dysphagia, Tremor, Hy... |
ORPHA:506358 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Tremor, Weight loss, Difficulty walking, Dysphagia |
OMIM:164310 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353281 |
Arthrogryposis Multiplex Congenita 5 |
|
Akinesia, Hand tremor, Hypertonia, Generalized hypotonia, Dystonia |
OMIM:618947 |
Mogs-Cdg |
|
Seizure, Dystonia, Infantile muscular hypotonia |
ORPHA:79330 |
Orofaciodigital Syndrome Type 1 |
|
Tremor, Seizure, Ataxia, Dystonia |
ORPHA:2750 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Vocal cord paralysis, Weight loss |
ORPHA:29072 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure |
ORPHA:2636 |
Scorpion Envenomation |
|
Restlessness, Hemifacial spasm, Ataxia, Tremor, Seizure, Hyperkinetic movements, Paresthesia, Myo... |
ORPHA:466677 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Dysphagia |
OMIM:617301 |
Arboleda-Tham Syndrome |
|
Axial hypotonia, Hypotonia, Dysphagia, Seizure, Lower limb hypertonia, Gait imbalance, Generalize... |
OMIM:616268 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Seizure, Periodic hypokalemic paresis, Weight loss |
ORPHA:91347 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dystonia, Focal-onset seizure, Babinski sign, Hemiparesis, Seizure, Tetraparesis, Limb dystonia, ... |
OMIM:175780 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Impaired pain sensation, Periventricular heterotopia, Inability to walk, Abnorm... |
ORPHA:261537 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353277 |
Mowat-Wilson Syndrome |
|
Broad-based gait, Ataxia, Impaired pain sensation, Periventricular heterotopia, Inability to walk... |
ORPHA:2152 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Vocal cord paralysis |
OMIM:605373 |
Carpenter Syndrome 2 |
|
Generalized non-motor (absence) seizure, Obesity |
OMIM:614976 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vocal cord paralysis |
OMIM:168000 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Mental deterioration, Dystonia |
ORPHA:3464 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Impaired pain sensation, Periventricular heterotopia, Inability to walk, Abnorm... |
ORPHA:261552 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Seizure, Attention deficit hyperactivity disorder, Dysphagia, Abnor... |
OMIM:619522 |
Schinzel-Giedion Syndrome |
|
Epileptic spasm, Failure to thrive in infancy, Vocal cord paralysis, Seizure, Hypertonia, Dysphag... |
ORPHA:798 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia |
OMIM:241080 |
Tyrosinemia, Type I |
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Failure to thrive, Periodic paralysis |
OMIM:276700 |
Igg4-Related Thyroid Disease |
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Vocal cord paralysis, Dysphagia |
ORPHA:64744 |
Alström Syndrome |
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Elevated hepatic transaminase, Somatic sensory dysfunction, Ataxia, Portal hypertension, Typical ... |
ORPHA:64 |
Osteopetrosis, Autosomal Recessive 3 |
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Periodic hypokalemic paresis |
OMIM:259730 |
Williams-Beuren Syndrome |
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Short attention span, Incoordination, Failure to thrive in infancy, Poor coordination, Vocal cord... |
OMIM:194050 |
Degcags Syndrome |
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Small for gestational age, Oral-pharyngeal dysphagia, Vocal cord paralysis, Hypotonia, Choking ep... |
OMIM:619488 |
Autosomal Recessive Cutis Laxa Type 1 |
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Dystonia |
ORPHA:90349 |
Feingold Syndrome 1 |
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Vocal cord paralysis |
OMIM:164280 |