Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
Ataxia, Sensory, 1, Autosomal Dominant |
|
Babinski sign, Positive Romberg sign, Gait instability, worse in the dark, Sensory ataxia |
OMIM:608984 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... |
OMIM:615268 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis |
OMIM:605388 |
Autosomal Dominant Focal Dystonia, Dyt25 Type |
|
Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,... |
ORPHA:329466 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
ORPHA:211017 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Slurred speech, Gait disturbance, Incoordination |
ORPHA:98766 |
Dystonia 25 |
|
Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia |
OMIM:615073 |
Early-Onset Generalized Limb-Onset Dystonia |
|
Hypertonia, Gait disturbance |
ORPHA:256 |
Vertigo, Benign Recurrent |
|
Gait imbalance |
OMIM:193007 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:617831 |
Major Depressive Disorder |
|
Depression |
OMIM:608516 |
Major Affective Disorder 1 |
|
Mania, Depression |
OMIM:125480 |
X-Linked Spastic Paraplegia Type 34 |
|
Lower limb spasticity, Babinski sign, Impaired vibration sensation in the lower limbs, Ankle clon... |
ORPHA:171607 |
Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... |
OMIM:607208 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pons morphology, Difficu... |
ORPHA:171622 |
Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Ataxia, Abasia |
OMIM:209100 |
Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Cerebellar atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onse... |
OMIM:611726 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Cerebellar atrophy, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Babinski sign, Impaired distal vibrat... |
OMIM:619742 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Generalized non-m... |
ORPHA:98811 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Sei... |
OMIM:600143 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... |
ORPHA:101010 |
Dystonia, Early-Onset, And/Or Spastic Paraplegia |
|
Laryngeal dystonia, Spastic paraplegia, Difficulty walking, Dystonia |
OMIM:619681 |
Spastic Paraplegia 61, Autosomal Recessive |
|
Inability to walk, Spasticity, Spastic paraplegia, Scissor gait |
OMIM:615685 |
Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Progressive cerebellar ataxia, Impaired temperature sensation |
OMIM:212890 |
Dystonia 6, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... |
OMIM:602629 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (... |
OMIM:607682 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Seizure, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Dystonia 17, Torsion, Autosomal Recessive |
|
Torticollis, Focal dystonia |
OMIM:612406 |
Spastic Paraplegia 24, Autosomal Recessive |
|
Spasticity, Spastic paraplegia, Clonus, Tip-toe gait |
OMIM:607584 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus |
OMIM:616187 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Primary Dystonia, Dyt17 Type |
|
Torticollis, Generalized dystonia, Parkinsonism, Craniofacial dystonia |
ORPHA:370103 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... |
OMIM:609446 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Generalized myoclonic seizure, Seizure, Cerebellar atrophy, Ataxia |
OMIM:614706 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:614018 |
Developmental And Epileptic Encephalopathy 67 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene... |
OMIM:618141 |
Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... |
OMIM:615871 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Spastic Ataxia With Congenital Miosis |
|
Spastic ataxia, Seizure, Ataxia, Hemiplegia/hemiparesis |
ORPHA:1182 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy |
ORPHA:363432 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey... |
OMIM:616421 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Inabili... |
OMIM:616346 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Spinocerebellar Ataxia Type 4 |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... |
ORPHA:98765 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia |
OMIM:611694 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... |
OMIM:618587 |
Dystonia 33 |
|
Axial dystonia, Axial hypotonia, Dystonia, Babinski sign, Limb dystonia, Spasticity |
OMIM:619687 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Paine Syndrome |
|
Generalized myoclonic seizure, Cerebellar hypoplasia, Spastic diplegia, Olivopontocerebellar hypo... |
OMIM:311400 |
Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz... |
OMIM:613855 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus |
ORPHA:22 |
Neuhauser-Eichner-Opitz Syndrome |
|
Ataxia, Rigidity, Hypotonia, Hypertonia, Spasticity |
ORPHA:2672 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigmen... |
OMIM:610003 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Seizure, Myoclonus, Intention... |
OMIM:618876 |
Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Spastic Paraplegia 32, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Cerebral atrophy, A... |
OMIM:611252 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Limb ataxia, S... |
OMIM:617350 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... |
OMIM:617018 |
Dystonia 4, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Gait ataxia, Limb dystonia |
OMIM:128101 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-mo... |
OMIM:617810 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... |
ORPHA:284332 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... |
ORPHA:36387 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus |
OMIM:254800 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... |
ORPHA:79137 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Seizure |
OMIM:615705 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Chiari type I malformatio... |
OMIM:617836 |
Angelman syndrome (Type 2) |
|
Seizure, Truncal ataxia |
DECIPHER:54 |
Angelman syndrome (Type 1) |
|
Seizure, Truncal ataxia |
DECIPHER:4 |
Developmental And Epileptic Encephalopathy 43 |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Atypical absence sei... |
OMIM:617113 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Ataxia, Poor coordination, Focal motor seizure, Generalized non-motor (absence)... |
OMIM:617665 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign,... |
OMIM:614322 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... |
OMIM:615625 |
Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic... |
ORPHA:725 |
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 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:617643 |
Developmental Delay With Dysmorphic Facies And Dental Anomalies |
|
Ataxia, Hypotonia, Seizure, EEG abnormality, Spasticity |
OMIM:619228 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Gait disturbance, Abnormality of extrapyramidal... |
OMIM:614561 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia, Cerebellar agenesis |
ORPHA:1397 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Jeavons Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, EEG w... |
ORPHA:139431 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure |
OMIM:612437 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ... |
OMIM:615369 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Atrophy/Degeneration affecting the brainstem,... |
OMIM:616230 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, EEG w... |
ORPHA:599373 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Juvenile Myoclonic Epilepsy |
|
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... |
ORPHA:307 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor |
OMIM:601238 |
Episodic Ataxia, Type 7 |
|
Episodic ataxia |
OMIM:611907 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Dystonia, Involuntary movements, Paroxysmal dyskinesia |
OMIM:611031 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
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 |
Dystonia 23 |
|
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... |
OMIM:614860 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Typical absence seizure, Unstead... |
OMIM:616409 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... |
ORPHA:363710 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic seizure, ... |
OMIM:618090 |
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia |
|
Episodic ataxia |
ORPHA:1179 |
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome |
|
Paroxysmal dystonia, Focal hemifacial clonic seizure, EEG with parietal focal spike waves, Writer... |
ORPHA:163727 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Foc... |
OMIM:615362 |
Dystonia 15, Myoclonic |
|
Writer's cramp, Myoclonus, Dystonia |
OMIM:607488 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a... |
ORPHA:94122 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 1 |
|
Seizure, Spasticity, Ataxia |
OMIM:604004 |
Developmental And Epileptic Encephalopathy 19 |
|
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, EEG with photoparoxysmal respo... |
OMIM:615744 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Ataxia |
OMIM:212850 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Spinocerebellar Ataxia Type 23 |
|
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... |
ORPHA:101108 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... |
ORPHA:423275 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Ataxia |
ORPHA:1180 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor |
OMIM:608029 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia |
OMIM:617584 |
Megalencephaly With Dysmyelination |
|
Seizure, Spasticity, Ataxia, EEG with photoparoxysmal response |
OMIM:249240 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus |
OMIM:208700 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Abnormal cerebellum morphology, Babinski sign, Generalized non-motor (absence) seizure, D... |
OMIM:618242 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Gen... |
ORPHA:86909 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Hypoplasia o... |
ORPHA:101070 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia |
OMIM:141500 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Febrile seizure (within the age range of 3 mon... |
OMIM:618412 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Decreased miniature endplate potentials, Prolonged miniature endplate currents |
OMIM:616321 |
Periventricular Nodular Heterotopia 8 |
|
Seizure, Spasticity, Cerebellar vermis atrophy |
OMIM:618185 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:607681 |
Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... |
OMIM:605021 |
Primary Dystonia, Dyt21 Type |
|
Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst... |
ORPHA:306734 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Seizure, Ataxia, Spastic tetraparesis |
OMIM:619061 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... |
OMIM:615957 |
Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... |
OMIM:600223 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Myoclonic absence seizure, Multifocal epileptiform discharges, Atypical absence seizure, Myocloni... |
OMIM:618596 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Cerebral atrophy, Seizure, Hypertonia, Upper l... |
OMIM:613925 |
Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
Autosomal Recessive Spastic Paraplegia Type 24 |
|
Clonus, Spastic paraplegia, Scissor gait, Tip-toe gait, Spasticity |
ORPHA:101004 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with genera... |
ORPHA:2590 |
Myasthenic Syndrome, Congenital, 15 |
|
Fatigable weakness |
OMIM:616227 |
Landau-Kleffner Syndrome |
|
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, EEG with frontal foca... |
ORPHA:98818 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Increased neuronal autofluorescent lipopigm... |
OMIM:162350 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility |
OMIM:615413 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... |
OMIM:617391 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Nescav Syndrome |
|
Appendicular spasticity, Cerebellar atrophy, Ataxia, Inability to walk, Babinski sign, Cerebral a... |
OMIM:614255 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign |
OMIM:617770 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Falls, Myoclonus, Atypical absence seizure, ... |
ORPHA:2382 |
Dystonia 30 |
|
Torticollis, Writer's cramp, Leg dystonia, Seizure, Arm dystonia, Dystonia, Oromandibular dystoni... |
OMIM:619291 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Torticollis, Bilateral tonic-clonic seizure, Seizure, Brain atrophy, Myoclonic absence seizure |
OMIM:612621 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... |
ORPHA:276193 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure |
OMIM:617080 |
Isolated Cerebellar Agenesis |
|
Seizure, Hypertonia, Ataxia |
ORPHA:1398 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... |
OMIM:615386 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Female Restricted Epilepsy With Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
Primary Dystonia, Dyt6 Type |
|
Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary... |
ORPHA:98806 |
Febrile Seizures, Familial, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:611634 |
Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... |
OMIM:618482 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, ... |
OMIM:610357 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 |
|
Axial hypotonia, Infantile spasms, Tonic seizure, Spastic tetraplegia, Hypsarrhythmia, Seizure, F... |
OMIM:251280 |
Developmental And Epileptic Encephalopathy 99 |
|
Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s... |
OMIM:619606 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, G... |
OMIM:618170 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Intellectual Developmental Disorder, Autosomal Dominant 46 |
|
Infantile spasms, Tonic seizure, Unsteady gait, Seizure, Focal impaired awareness seizure, Brain ... |
OMIM:617601 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Generalized dystonia, Corpus ... |
OMIM:619389 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... |
OMIM:256731 |
Developmental And Epileptic Encephalopathy 37 |
|
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... |
OMIM:616981 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Seizure, ... |
ORPHA:101112 |
Dystonia, Focal, Task-Specific |
|
Writer's cramp |
OMIM:611284 |
Dystonia 35, Childhood-Onset |
|
Dystonia |
OMIM:619921 |
Torsion Dystonia With Onset In Infancy |
|
Torsion dystonia |
OMIM:602554 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (abs... |
OMIM:619157 |
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Cerebellar atrophy, Seizure, Brain atrophy, Spastic tetraparesis |
OMIM:618741 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizu... |
OMIM:271980 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Limb ataxia, Dysmetria, Gait ... |
OMIM:117360 |
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration |
|
Ataxia |
OMIM:242520 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Limb ataxia, Gait ataxia |
ORPHA:284282 |
Developmental And Epileptic Encephalopathy 57 |
|
Epileptic spasm, Tonic seizure, Seizure, Atypical absence seizure, Generalized myoclonic seizure |
OMIM:617771 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Paroxysmal... |
OMIM:602066 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration, Generalized myoclonic seizure |
OMIM:610951 |
Obsessive-Compulsive Disorder |
|
Collectionism, Compulsive behaviors, Skin-picking, Depression |
OMIM:164230 |
Congenital Disorder Of Glycosylation, Type Iiz |
|
Appendicular spasticity, Seizure, Diffuse cerebellar atrophy, Clonus |
OMIM:620201 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
Lissencephaly 10 |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... |
OMIM:618873 |
Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... |
ORPHA:512260 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... |
OMIM:619565 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... |
ORPHA:314978 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking |
ORPHA:85292 |
Autosomal Recessive Spastic Paraplegia Type 56 |
|
Babinski sign, Unsteady gait, Spastic paraplegia, Tip-toe gait, Dystonia, Spastic gait |
ORPHA:320411 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... |
ORPHA:95434 |
Developmental And Epileptic Encephalopathy 60 |
|
Epileptic spasm, Tonic seizure, Inability to walk, Spastic tetraplegia, Myoclonic seizure, Seizur... |
OMIM:617929 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral atrophy, ... |
OMIM:618088 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis |
OMIM:118800 |
Developmental And Epileptic Encephalopathy 76 |
|
Cerebellar atrophy, Lower limb spasticity, Inability to walk, Cerebral atrophy, Seizure, Upper li... |
OMIM:618468 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus |
ORPHA:36899 |
Myasthenic Syndrome, Congenital, 18 |
|
Fatigable weakness |
OMIM:616330 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia |
OMIM:609306 |
Developmental And Epileptic Encephalopathy 109 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... |
OMIM:620145 |
Dystonia 32 |
|
Torticollis, Laryngeal dystonia, Limb dystonia |
OMIM:619637 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Hypoto... |
OMIM:616127 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizu... |
OMIM:301020 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal a... |
OMIM:613728 |
Dentatorubral-Pallidoluysian Atrophy |
|
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus... |
OMIM:125370 |
Pontocerebellar Hypoplasia, Type 2D |
|
Appendicular spasticity, Cerebellar atrophy, Clonus, Chorea, Spastic tetraplegia, Cerebral atroph... |
OMIM:613811 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun... |
OMIM:302500 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Seizure, Ataxia |
OMIM:613402 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Spastic tetraplegia, C... |
OMIM:618730 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurre... |
OMIM:300423 |
Myasthenic Syndrome, Congenital, 13 |
|
Fatigable weakness |
OMIM:614750 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Neuronal loss in centra... |
OMIM:143100 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Seizure, Ataxia, Apraxia |
ORPHA:85338 |
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum |
|
Babinski sign, Unsteady gait, Spastic paraplegia, Tip-toe gait, Dystonia |
OMIM:615030 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... |
OMIM:613721 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rig... |
ORPHA:98759 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... |
OMIM:128230 |
Developmental And Epileptic Encephalopathy 7 |
|
Spastic tetraparesis, EEG with burst suppression, Hypotonia, Seizure, Dystonia |
OMIM:613720 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2 |
|
Rigidity, Dystonia, Difficulty walking, Sensory ataxia |
OMIM:619661 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Impaired distal proprioception, Unsteady gait, Impaired distal vibration sens... |
OMIM:617633 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga... |
OMIM:605259 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
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 |
Mast Syndrome |
|
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... |
OMIM:248900 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Paroxysmal Nonkinesigenic Dyskinesia 2 |
|
Paroxysmal dystonia |
OMIM:611147 |
Paroxysmal Kinesigenic Dyskinesia |
|
Writer's cramp, Involuntary movements, Chorea, Athetosis, Seizure, Dystonia, Focal sensory seizure |
ORPHA:98809 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Segawa Syndrome, Autosomal Recessive |
|
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... |
OMIM:605407 |
Spinocerebellar Ataxia Type 43 |
|
Unsteady gait, Limb ataxia, Distal sensory impairment, Gait ataxia, Progressive cerebellar ataxia... |
ORPHA:497764 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramid... |
OMIM:607317 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... |
OMIM:300425 |
Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Seizure, Complex febrile sei... |
ORPHA:31709 |
Dravet Syndrome |
|
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... |
ORPHA:33069 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati... |
OMIM:607565 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... |
OMIM:616204 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
Chorea, Benign Hereditary |
|
Chorea, Frequent falls, Gait disturbance |
OMIM:118700 |
Spinocerebellar Ataxia Type 25 |
|
Impaired pain sensation, Babinski sign, Abnormal cerebellar cortex morphology, Distal sensory imp... |
ORPHA:101111 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Seizure, EEG abnormality, Myoclonus, Difficulty walking, Dystonia, Spa... |
OMIM:617829 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lower limb spasticity, Babinski sign, Upper limb spasticity, Dystonia, Spastic gait |
OMIM:619966 |
Pontocerebellar Hypoplasia, Type 2C |
|
Chorea, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia, Dystonia |
OMIM:612390 |
Choreoathetosis, Familial Inverted |
|
Rigidity, Abnormal pyramidal sign, Seizure, Gait disturbance, Progressive choreoathetosis |
OMIM:118750 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ataxia, EEG abnormality, Hypertonia, Olivopontocerebellar atrophy, Cerebral cortical atrophy |
ORPHA:2732 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Broad-based gait, Dysmetria, Gait ataxia, Seizure, Dysdiadochokinesis, Cerebe... |
OMIM:224050 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Generalized-onset seizure, Infantile spasms, Hypoplasia of the pons, Spastic tetraplegia, Myoclon... |
OMIM:618677 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy,... |
ORPHA:263516 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Involuntary movements, Aggressive behavior, EEG abnormality, Stat... |
OMIM:617171 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Ataxia |
OMIM:136600 |
Maple Syrup Urine Disease |
|
Seizure, Ataxia, Hemiplegia/hemiparesis |
ORPHA:511 |
Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Abnormal... |
OMIM:619806 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus |
OMIM:159900 |
Striatonigral Degeneration, Childhood-Onset |
|
Unsteady gait, Hypotonia, Ankle clonus, Steppage gait, Hypertonia, Dystonia, Loss of ambulation, ... |
OMIM:617054 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset,... |
OMIM:619028 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Cerebellar atrophy, Seizure |
OMIM:615596 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Cerebellar atrophy, Cerebral palsy, Hypoplasia of the pons, Cerebral atrophy, Seizure, Spasticity |
OMIM:618973 |
Epilepsy, Familial Temporal Lobe, 7 |
|
Focal sensory seizure with auditory features |
OMIM:616436 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Cerebe... |
ORPHA:314603 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Increased neuronal autofluorescent lipopigment, Focal-ons... |
OMIM:204300 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Com... |
OMIM:619338 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:128200 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Cerebellar atrophy, Seizure, Slurred speech, Gait ataxia |
OMIM:619323 |
Alternating Hemiplegia Of Childhood 1 |
|
Choreoathetosis, Episodic hemiplegia, Episodic quadriplegia, Dystonia |
OMIM:104290 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Cerebellar atrophy, Ataxia, Parkinsonism, Babinski ... |
OMIM:617225 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Axial hypotonia, Ataxia, Focal motor status epilepticus, Focal-onset seizure, Chorea, Poor coordi... |
OMIM:619150 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... |
ORPHA:98810 |
Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... |
OMIM:617711 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Glycine Encephalopathy 2 |
|
Seizure, Respiratory failure, EEG with burst suppression |
OMIM:620398 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Alternating Hemiplegia Of Childhood 2 |
|
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Seizure, Status epilepticus, Dystoni... |
OMIM:614820 |
Dystonia 9 |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia |
OMIM:601042 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress... |
OMIM:612020 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, A... |
OMIM:617862 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Impaired distal proprioception, Cerebra... |
OMIM:607250 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, General... |
ORPHA:71517 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Impair... |
OMIM:605361 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Axial hypotonia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Hypot... |
OMIM:616139 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria,... |
OMIM:617916 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... |
OMIM:607346 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:210571 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Hypotonia, M... |
OMIM:617389 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... |
ORPHA:53583 |
Autism |
|
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... |
OMIM:607373 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Ataxia, Gait disturbance |
ORPHA:2274 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, Hypotonia, Tongue fascicul... |
OMIM:618276 |
Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Dysesthesia, Fo... |
ORPHA:1945 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Tremor, Focal-onset... |
ORPHA:330050 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... |
OMIM:615400 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Truncal ataxia, A... |
OMIM:608636 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... |
OMIM:614831 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Axial hypotonia, Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal py... |
OMIM:613135 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... |
ORPHA:208513 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Diaminopentanuria |
|
Neurodegeneration, Seizure, Spasticity, Ataxia |
OMIM:222350 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... |
ORPHA:79262 |
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain |
|
Cerebral degeneration, Ataxia |
OMIM:260970 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Infantile axial hypotonia, Parkinsonism, Tremor, Babinski sign, Scissor gait,... |
ORPHA:521406 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls |
OMIM:619647 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... |
OMIM:610185 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... |
ORPHA:94124 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Generalized-onset seizure, Inability to walk, Babinski sign, Spastic tetraplegia, Cerebral atroph... |
OMIM:616657 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spastic Ataxia 1, Autosomal Dominant |
|
Spastic ataxia, Spastic paraplegia, Gait disturbance, Dystonia |
OMIM:108600 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Seizure, Cerebellar vermis atrophy |
OMIM:618501 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... |
OMIM:236792 |
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum |
|
Babinski sign, Cogwheel rigidity, Hypertonia, Dystonia, Spastic gait |
OMIM:618284 |
Epilepsy, Familial Temporal Lobe, 4 |
|
Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features |
OMIM:611631 |
Developmental And Epileptic Encephalopathy 69 |
|
Axial hypotonia, Inability to walk, Spastic tetraplegia, Hypsarrhythmia, EEG abnormality, Hyperki... |
OMIM:618285 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... |
OMIM:619000 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Axial hypotonia, Focal-onset seizure, Chorea, Inability to walk, EEG abnormality, Convulsive stat... |
OMIM:618760 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... |
ORPHA:101109 |
X-Linked Progressive Cerebellar Ataxia |
|
Unsteady gait, Babinski sign, Limb ataxia, Dysmetria, Spastic dysarthria, Progressive cerebellar ... |
ORPHA:1175 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:352403 |
Dysequilibrium Syndrome |
|
Seizure, Cerebral palsy, Ataxia, Gait disturbance |
ORPHA:1766 |
3-Methylglutaconic Aciduria Type 1 |
|
Spastic tetraparesis, Seizure, Progressive cerebellar ataxia, Dystonia, Failure to thrive |
ORPHA:67046 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, D... |
OMIM:614487 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Spastic tetraplegia, Seizure, Spasticity |
OMIM:617207 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Dystonia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, Gait ataxia, Clumsiness, Nonpr... |
ORPHA:453521 |
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 |
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors |
|
Fatigable weakness |
OMIM:254190 |
Blepharonasofacial Malformation Syndrome |
|
Torsion dystonia |
OMIM:110050 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait |
OMIM:618387 |
Camos Syndrome |
|
Ataxia, Spasticity, Seizure, Brain atrophy, Aplasia/Hypoplasia of the cerebellum, Progressive ext... |
ORPHA:83472 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Axial hypotonia, Ataxia, Inability to walk, Athetosis, Abnormality of extrapyramidal motor functi... |
OMIM:615159 |
Leukodystrophy, Hypomyelinating, 14 |
|
Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia, Dystonia, Spasticity |
OMIM:617899 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
Gordon Holmes Syndrome |
|
Cerebellar atrophy, Chorea, Ataxia, Cerebral atrophy |
OMIM:212840 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Tremor, Chorea, Babinsk... |
OMIM:618093 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Broad-based gait, Axial hypotonia, Parkinsonism, Oculogyric crisis, Bradykinesia, Hypertonia, Gen... |
OMIM:617384 |
Ataxia, Deafness, And Cardiomyopathy |
|
Ataxia |
OMIM:208750 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Cerebellar atrophy, Epileptic spasm, Ataxia, Atrophy/Degeneration affecting the brainstem, Spasti... |
OMIM:619971 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l... |
OMIM:204500 |
Developmental And Epileptic Encephalopathy 98 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ons... |
OMIM:619605 |
Spinocerebellar Ataxia Type 11 |
|
Abnormal pyramidal sign, Progressive cerebellar ataxia, Gait imbalance, Difficulty walking, Dystonia |
ORPHA:98767 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... |
OMIM:601068 |
Developmental And Epileptic Encephalopathy 103 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic status epilepticus,... |
OMIM:619913 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Epileptic spasm, Seizure |
OMIM:619561 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Cerebellar atrophy, Seizure, Ataxia |
OMIM:618879 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, Spastic par... |
ORPHA:139480 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Broad-based gait, Diffuse cerebral atrophy, Ataxia, Parkinsonism, Rigidity, C... |
OMIM:607136 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... |
OMIM:254210 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, D... |
ORPHA:401820 |
Epilepsy, Nocturnal Frontal Lobe, 4 |
|
Nocturnal seizures, Dystonia |
OMIM:610353 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Increased neuronal autofluorescent lipopig... |
ORPHA:79263 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Gener... |
OMIM:619616 |
Cln5 Disease |
|
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Abnormal central motor function, Tremor, F... |
ORPHA:228360 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Unsteady gait, G... |
ORPHA:485350 |
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 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Tremor, Dyspnea,... |
ORPHA:90117 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, ... |
OMIM:213200 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Cerebellar atrophy, Ataxia, Cerebral cortical atrophy, Difficulty walking |
OMIM:619425 |
Episodic Ataxia, Type 9 |
|
Cerebellar edema, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status ... |
OMIM:618924 |
Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... |
OMIM:616366 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking |
OMIM:613608 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... |
OMIM:615006 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizur... |
ORPHA:248111 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic se... |
OMIM:618917 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... |
ORPHA:251282 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia, Respiratory insuffi... |
ORPHA:640 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Seizure, Hypertonia, Stat... |
ORPHA:71277 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Torticollis, Cerebellar atrophy, Impaired te... |
OMIM:619686 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Seizur... |
OMIM:612016 |
Benign Adult Familial Myoclonic Epilepsy |
|
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor |
ORPHA:86814 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Atonic seizure |
OMIM:611092 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chor... |
OMIM:617493 |
Spinocerebellar Ataxia 5 |
|
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Incoordination, Ataxia, Limb ... |
OMIM:600224 |
Developmental And Epileptic Encephalopathy 17 |
|
Inability to walk, Chorea, EEG with burst suppression, Focal tonic seizure, Hypsarrhythmia, Athet... |
OMIM:615473 |
Familial Infantile Myoclonic Epilepsy |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic... |
ORPHA:352582 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Seizure, EEG abnormality, Myoclon... |
OMIM:606777 |
Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, I... |
OMIM:616645 |
Hemidystonia-Hemiatrophy Syndrome |
|
Limb dystonia, Babinski sign, Abnormal pyramidal sign, Hemiparesis, Seizure, Dystonia |
ORPHA:306741 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Gait disturbance, Aplasia/Hypoplasia of the cereb... |
ORPHA:2572 |
Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... |
ORPHA:65683 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Gait disturb... |
OMIM:618418 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Diffuse cerebral atrophy, Diffuse cerebellar atrophy, Abnormal pyramidal sign, Hemiparesis, Statu... |
ORPHA:352596 |
Spinocerebellar Ataxia Type 10 |
|
Cerebellar atrophy, Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Unsteady ga... |
ORPHA:98761 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Dystonia, Ataxia, Infantile spasms, Spastic tetraplegia, Seizure, Status epilepticus, Tetraparesi... |
ORPHA:263410 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Torticollis, Head titubation, Abnormal pyramidal sign, Hypotonia, Truncal ata... |
OMIM:617560 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Torticollis, Ataxia, Babinski sign, Hypotonia, Choreoathetosis, Limb dy... |
OMIM:619054 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking |
OMIM:619191 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure, Ataxia |
OMIM:617709 |
Febrile Seizures, Familial, 11 |
|
Hippocampal atrophy, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... |
OMIM:614418 |
Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a... |
OMIM:610246 |
Huntington Disease-Like 2 |
|
Caudate atrophy, Involuntary movements, Parkinsonism, Chorea, Gait disturbance, Dystonia, Cerebra... |
ORPHA:98934 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Seizure, Ataxia |
ORPHA:404493 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, Spasti... |
ORPHA:313772 |
Episodic Ataxia Type 6 |
|
Cerebellar atrophy, Ataxia, Slurred speech, Seizure, Hemiplegia |
ORPHA:209967 |
Dyschromatosis Symmetrica Hereditaria |
|
Torsion dystonia |
ORPHA:41 |
Autosomal Spastic Paraplegia Type 72 |
|
Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles |
ORPHA:401849 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... |
OMIM:617672 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Ataxia |
OMIM:613909 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior, Seizure, Bruxism, Spasticity |
OMIM:615493 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Seizure, Bradykinesia, Shuf... |
OMIM:615528 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... |
OMIM:605809 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Spasticity, Dystonia |
OMIM:271930 |
Guanidinoacetate Methyltransferase Deficiency |
|
Bilateral tonic-clonic seizure, Ataxia, Chorea, Hypotonia, Seizure, Athetosis, Focal impaired awa... |
ORPHA:382 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Impaired vibratory sensation, Lower limb spasticity, Abnormal cerebellar peduncle morphology, Cer... |
ORPHA:98 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Epilepsia partialis continua, Cerebellar atrophy, Spastic tetraparesis, Chorea, Cerebral atrophy,... |
OMIM:618567 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ataxia, Gait disturbance |
ORPHA:1178 |
Spinocerebellar Ataxia Type 2 |
|
Kinetic tremor, Postural tremor, Parkinsonism, Olivopontocerebellar hypoplasia, Chorea, Cerebella... |
ORPHA:98756 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Developmental And Epileptic Encephalopathy 59 |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Focal... |
OMIM:617904 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability t... |
ORPHA:93952 |
Polymicrogyria, Bilateral Temporooccipital |
|
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... |
OMIM:612691 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb... |
OMIM:618369 |
Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic p... |
OMIM:612319 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Dystonia, Spasticity, ... |
OMIM:615889 |
Spastic Ataxia 9, Autosomal Recessive |
|
Axial hypotonia, Ataxia, Impaired distal vibration sensation, Hoffmann sign, Hypotonia, Dysmetria... |
OMIM:618438 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Involuntary movements, Inability to walk, Hypotonia, Seizure, EEG abnormality, Dystonia, Spasticity |
OMIM:617820 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Inability to walk, Spastic tetraplegia, Dystonia |
OMIM:618646 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Unsteady gait, Head tremor |
OMIM:619988 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... |
ORPHA:1170 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Generalized dystonia, Parkinsonism, Cerebellar calcifications, Rigidity, Babinski sign, Limb atax... |
OMIM:618824 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Degeneration of the striatum, Gait di... |
OMIM:609161 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Seizure, Status epilepticus, Abnorma... |
OMIM:239500 |
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 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy |
OMIM:619405 |
Pontocerebellar Hypoplasia, Type 1E |
|
Cerebellar atrophy, Cerebellar hypoplasia, Myoclonus, Hypoplasia of the pons |
OMIM:619303 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Cerebellar atrophy, Ataxia, Inability to walk, Atrophy/Degeneration affecting the brainstem, Hypo... |
OMIM:617954 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... |
OMIM:133190 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... |
ORPHA:208447 |
Leukodystrophy, Hypomyelinating, 18 |
|
Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Babinski sign, Spa... |
OMIM:618404 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... |
ORPHA:98764 |
Developmental And Epileptic Encephalopathy 71 |
|
EEG with burst suppression, Cheyne-Stokes respiration, Respiratory insufficiency, Seizure, Respir... |
OMIM:618328 |
Spastic Ataxia 3, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation,... |
OMIM:611390 |
Liang-Wang Syndrome |
|
Cerebellar atrophy, Ataxia, Generalized non-motor (absence) seizure, Cerebral atrophy, Status epi... |
OMIM:618729 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... |
ORPHA:454887 |
Tubulinopathy-Associated Dysgyria |
|
Startle-induced seizure, Ataxia, Cerebellar vermis hypoplasia, Infantile spasms, Hypoplasia of th... |
ORPHA:467166 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... |
OMIM:619970 |
Microlissencephaly |
|
Cerebellar atrophy, Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Cerebral c... |
ORPHA:1083 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Generalized-onset seizure, Slurred speech, Limb ataxia, Dysmetria, Ankle clon... |
ORPHA:284289 |
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 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis, Dystonia, Spa... |
OMIM:615924 |
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 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... |
OMIM:617435 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... |
OMIM:616540 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Seizure, Bruxism, Spasticity |
ORPHA:356996 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity |
OMIM:616494 |
Partington Syndrome |
|
Lower limb spasticity, Infantile spasms, Focal dystonia, Seizure, EEG abnormality, Limb dystonia |
OMIM:309510 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... |
OMIM:617106 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Ataxia, Inability to walk, Unsteady gait, Spastic tetraplegia, Cerebral atrop... |
ORPHA:1947 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Cerebellar atrophy, Corpus callosum atrophy, Impaired distal vibration sensation, Abnormal pyrami... |
OMIM:616680 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Tr... |
OMIM:220200 |
Episodic Ataxia, Type 6 |
|
Cerebellar atrophy, Slurred speech, Hemiparesis, Seizure, Cerebellar hypoplasia, Truncal ataxia, ... |
OMIM:612656 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency |
|
Seizure, Limb ataxia, Gait ataxia |
ORPHA:404499 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, Sensory ataxia, ... |
ORPHA:445062 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Distal s... |
OMIM:603516 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Spa... |
OMIM:616281 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Babinski sign, Impaired ... |
OMIM:614409 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Generalized myoclo... |
OMIM:616341 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Axial hypotonia, Hypoplasia of the pons, Choreoathetosis, Dystonia, Spasticity |
OMIM:614249 |
Obesity, Hyperphagia, And Developmental Delay |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:613886 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy |
|
EEG with focal spikes, Ataxia, Cerebellar hypoplasia, Cerebral atrophy |
OMIM:616917 |
Intellectual Developmental Disorder, Autosomal Recessive 57 |
|
Generalized-onset seizure, Inability to walk, Focal-onset seizure, Seizure, Hypertonia, Generaliz... |
OMIM:617188 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:35878 |
Leukodystrophy, Hypomyelinating, 21 |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Athetosis, Tetraparesis, Dystonia |
OMIM:619310 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Bilateral tonic-clonic seizure, Ataxia, Failure to thrive in infancy, Babinski sign, Spastic dipl... |
OMIM:619065 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia |
OMIM:616398 |
Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph... |
OMIM:614877 |
Lafora Disease |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal-on... |
ORPHA:501 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Waddling gait, Cerebellar atrophy, Babinski sign, Cerebral atrophy, Spasticity |
OMIM:619090 |
Van Den Bosch Syndrome |
|
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors |
ORPHA:3417 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Progressive truncal ataxia, Broad-based gait, Babinski sign, Abnormal pyramidal sign, Dysmetria, ... |
ORPHA:363429 |
Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Generalized non-motor (absence) seizure, Focal motor seizure |
OMIM:615553 |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Ataxia, Abnormal pyramidal sign, Dystonia |
OMIM:619196 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... |
OMIM:600363 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... |
OMIM:615476 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Axial hypotonia, Oculogyric crisis, Tremor, Hypotonia, Dysd... |
OMIM:618049 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Impaired vibration sensation in the lower limbs, Babin... |
OMIM:159550 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Cerebellar atrophy, Inability to walk, Ataxia, Gait ataxia |
OMIM:617915 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Axial hypotonia, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... |
OMIM:618317 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Hypotonia, Progressive cerebellar ataxia, My... |
ORPHA:139485 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Hypoplasia of the pons, Inability to walk, Generalized non-motor (absence) seiz... |
ORPHA:411986 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Hypotonia, Dysmetria, G... |
OMIM:604391 |
Developmental And Epileptic Encephalopathy 12 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Spasticity |
OMIM:613722 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Lower limb spasticity, Ataxia, Clonic seizure, Hypotonia, Truncal ataxia, Gait ataxia, Seizure, G... |
OMIM:614458 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Foc... |
OMIM:619854 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... |
ORPHA:251347 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Falls... |
OMIM:203740 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Cerebellar atrophy, Babinski sign, Difficulty walking, Progressive spastic paraplegia |
ORPHA:468661 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Dilated fourth ventricle, Broad-based gait, Head titubation, Gait ataxia, Focal impaired awarenes... |
OMIM:620208 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Epileptic spasm, EEG with focal spike waves, Bilateral tonic-c... |
ORPHA:1942 |
Pyridoxine-Dependent Epilepsy |
|
Early onset absence seizures, Epileptic spasm, Focal-onset seizure, EEG with burst suppression, M... |
ORPHA:3006 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7 |
|
Focal-onset seizure, Hypotonia, Seizure, Dystonia, Refractory status epilepticus |
OMIM:620359 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... |
ORPHA:420492 |
Developmental And Epileptic Encephalopathy 93 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetr... |
OMIM:618012 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Clonus, Spastic paraplegia, Lower limb hypertonia, Gait disturbance... |
OMIM:614898 |
Developmental And Epileptic Encephalopathy 47 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, I... |
OMIM:617166 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Intention tremor |
OMIM:617863 |
Infantile Cerebellar-Retinal Degeneration |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Athetosis, Cereb... |
OMIM:614559 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Bilateral tonic-clonic seizure, Rigidity... |
OMIM:619911 |
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Seizure, Generalized hypotonia, Dystonia |
OMIM:616763 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615127 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Waddling gait, Spastic ataxia, Lower limb spasticity, Cerebellar atrophy, Degeneration of the lat... |
OMIM:607259 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizu... |
ORPHA:77299 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility |
OMIM:136580 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Gait disturbance, Pr... |
OMIM:210000 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:603204 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Hypotonia, Cerebellar hypoplasia, Limb dystonia |
OMIM:620270 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Ataxia, Tremor, Poor coordination, Gait disturbance, Eating-induced se... |
ORPHA:544254 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Clumsiness, Focal dystonia, Gait... |
ORPHA:216873 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz... |
ORPHA:100988 |
Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... |
OMIM:183086 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Corpus callosum atrophy, Focal-onset ... |
ORPHA:168491 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Fatigable weakness, Abnormal peripheral nervous system synaptic transmission, Favorable response ... |
ORPHA:353327 |
Leukodystrophy, Hypomyelinating, 16 |
|
Broad-based gait, Abnormal pyramidal sign, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Se... |
OMIM:617964 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... |
OMIM:616719 |
Developmental And Epileptic Encephalopathy 14 |
|
Clonus, Focal autonomic seizure, Focal motor seizure, Tetraplegia, Status epilepticus, Spasticity... |
OMIM:614959 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Developmental And Epileptic Encephalopathy 44 |
|
Cerebellar atrophy, Infantile spasms, Cerebral atrophy, Seizure, Athetosis, Spasticity |
OMIM:617132 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Atonic seizure, Generalized non-motor (absence) seizure |
OMIM:610293 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Caudate atrophy, Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Partial absence of cerebell... |
ORPHA:137831 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ... |
OMIM:617600 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Abnormal motor nerve conduction velocity, Diaphragmatic paralysis, Respirat... |
OMIM:614399 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Cerebellar atrophy, Epileptic spasm, Inability to walk, Chorea, Cerebral atrophy, Myoclonic seizu... |
OMIM:614254 |
Sandhoff Disease, Juvenile Form |
|
Cerebellar atrophy, Incoordination, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, Seizure, G... |
ORPHA:309162 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity |
OMIM:545000 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Stat... |
ORPHA:529665 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Cerebellar atrophy, Cerebral atrophy, Dysmetria, Gait ataxia, Seizure |
ORPHA:320385 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait |
OMIM:619052 |
Familial Paroxysmal Ataxia |
|
Torticollis, Ataxia, Dystonia, Hemiplegia, Cerebellar vermis atrophy |
ORPHA:97 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... |
OMIM:619738 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Spasticity, Intention tremor |
OMIM:215470 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Tonic seizure, Respiratory insufficiency, Respiratory failure, Hypertonia |
OMIM:611722 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Hypotonia, Paroxysmal cho... |
OMIM:500003 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... |
ORPHA:397946 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Cerebral ... |
OMIM:613839 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Fatigable weakness |
OMIM:618197 |
Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Clonic seizure, Chorea, Front... |
ORPHA:79097 |
Mepan Syndrome |
|
Axial dystonia, Cerebellar atrophy, Dystonia, Ataxia, Hemidystonia, Chorea, Hypotonia, Cerebral a... |
ORPHA:508093 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Ataxia, Head titubation, Dysesthesia, Abnormal pyramidal sign, Cerebral atrop... |
ORPHA:527497 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
Congenital Disorder Of Glycosylation, Type Iii |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Truncal ataxia |
OMIM:613612 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Cerebellar atrophy, Impaired distal proprioception, Tremor, Abnormal cerebellum m... |
ORPHA:137898 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:247100 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Cerebral atrophy |
OMIM:616521 |
Developmental And Epileptic Encephalopathy 58 |
|
Spastic diplegia, Hypsarrhythmia, Seizure, Status epilepticus, Abnormal repetitive mannerisms |
OMIM:617830 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cerebellar atrophy, Lower limb spasticity, Broad-based gait, Ataxia, Corpus callosum atrophy, Bab... |
ORPHA:320391 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Axial hypotonia, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dyston... |
OMIM:612438 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Inability to walk, Lower limb spasticity, Bilateral tonic-clonic seizure |
OMIM:619639 |
Partington Syndrome |
|
Lower limb spasticity, EEG abnormality, Seizure, Gait disturbance, Limb dystonia |
ORPHA:94083 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Sei... |
OMIM:612736 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Speech apraxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... |
OMIM:245570 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Axial hypotonia, Tremor, Myoclonus, Dystonia, Failure to thrive |
OMIM:619651 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Generalized dystonia, Ataxia, Rigidity, Focal motor seizure, Hypotonia, Seizure, Gait disturbance... |
OMIM:618239 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis |
ORPHA:132 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Fatigable weakness, Prolonged miniature endplate currents |
OMIM:601462 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Cerebellar atrophy, Epileptic spasm, Inability to walk, Seizure, Spasticity |
OMIM:617086 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Frequent falls |
OMIM:615217 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 years), Ataxia, Dysmetria |
OMIM:618384 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Cerebellar atrophy, Chorea, Spastic tetraplegia, Hypotonia, Athetosis, Cerebellar hypoplasia, Dys... |
OMIM:619922 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Harel-Yoon Syndrome |
|
Cerebellar atrophy, Ataxia, Inability to walk, Generalized non-motor (absence) seizure, Spasticity |
OMIM:617183 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Inability to walk, Abnormal cerebellum morphology, P... |
ORPHA:280234 |
Familial Infantile Bilateral Striatal Necrosis |
|
Failure to thrive, Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Cogwheel rigi... |
ORPHA:225154 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spastic paraparesis, Apraxia, Olivop... |
OMIM:615157 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Cerebral atrophy, Tip-toe gait, Progres... |
ORPHA:496689 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor |
ORPHA:98771 |
Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Rigidity, Hypoplasia of the pons, Unste... |
ORPHA:98760 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransfera... |
OMIM:271245 |
Kohlschutter-Tonz Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Cerebral atrophy, Myoclonic seizure,... |
OMIM:226750 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal motor func... |
OMIM:610743 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,... |
OMIM:615491 |
Rabies |
|
Cerebral palsy, Anorexia, Seizure, Paresthesia, Attention deficit hyperactivity disorder, Vocal c... |
ORPHA:770 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:619428 |
Myasthenic Syndrome, Congenital, 5 |
|
Fatigable weakness, Prolonged miniature endplate currents |
OMIM:603034 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, D... |
OMIM:609195 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Ataxia, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Generaliz... |
OMIM:618224 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Hereditary Continuous Muscle Fiber Activity |
|
Seizure, Slurred speech, Ataxia, Spastic gait |
ORPHA:972 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
Infantile Dystonia-Parkinsonism |
|
Cerebral palsy, Axial hypotonia, Parkinsonism, Oculogyric crisis, Chorea, Abnormal pyramidal sign... |
ORPHA:238455 |
3-Methylglutaconic Aciduria, Type Viia |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure,... |
OMIM:619835 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rigidity, Cerebral at... |
OMIM:610127 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Hypotonia, Dysmetria, Seizure, Tip-toe gait, Focal impaired awareness seizure, Dystonia, Spasticity |
OMIM:251950 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia, Infantile spasms |
OMIM:278780 |
Rasmussen Subacute Encephalitis |
|
EEG with focal spikes, Interictal epileptiform activity, Bilateral tonic-clonic seizure with gene... |
ORPHA:1929 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism,... |
OMIM:183090 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Hypotonia, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Developmental And Epileptic Encephalopathy 16 |
|
Severe muscular hypotonia, Clonic seizure, Hypotonia, Hemiparesis, Status epilepticus, Myoclonus,... |
OMIM:615338 |
Seizures, Benign Familial Infantile, 1 |
|
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... |
OMIM:601764 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia,... |
OMIM:618598 |
Creutzfeldt-Jakob Disease |
|
Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Gait ataxia, Hemiparesis, Myocl... |
OMIM:123400 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Tetraplegia, Cerebral atrophy, Choreoathetosi... |
OMIM:616034 |
Huntington Disease-Like 1 |
|
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsines... |
ORPHA:157941 |
Atypical Rett Syndrome |
|
Neonatal hypotonia, Involuntary movements, Infantile spasms, Impaired pain sensation, Tremor, Ina... |
ORPHA:3095 |
L-Ferritin Deficiency |
|
Generalized-onset seizure |
OMIM:615604 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Hypotonia, Myo... |
OMIM:618497 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... |
OMIM:300495 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Seizure, Ataxia, Dystonia |
ORPHA:1171 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Hypotonia,... |
OMIM:606703 |
Congenital Disorder Of Glycosylation, Type Iin |
|
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Seizure, Cerebellar vermis atrophy |
OMIM:616721 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101075 |
Developmental And Epileptic Encephalopathy 1 |
|
Axial hypotonia, Dystonia, Infantile spasms, Tonic seizure, Spastic tetraparesis, Focal-onset sei... |
OMIM:308350 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Respiratory failure, Ataxia, Dysphagia |
OMIM:618637 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Seizure, EEG abnormality, Dystonia |
OMIM:612126 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Chorea, Seizure, EEG abnormality, Focal impaired awareness seizur... |
OMIM:613970 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Seizure, Spas... |
ORPHA:329284 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized-onset seizure, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Di... |
OMIM:159950 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Cerebellar atrophy, Rigidity, Inability to walk, Seizure, Athetosis, Gait disturbance, Myoclonus,... |
OMIM:618241 |
Pontocerebellar Hypoplasia, Type 4 |
|
Seizure, Respiratory failure, Hypertonia, Myoclonus, Dysphagia, Spasticity |
OMIM:225753 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Gait ataxia, Seizure, Gait imbalance, Cerebel... |
ORPHA:488635 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Impaired pain sensation, Inability to walk, Chorea, Abnormal pyramidal sign, Gait ataxia, Seizure... |
ORPHA:500180 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Generalized-onset seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seizure, ... |
OMIM:620166 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Familial Focal Epilepsy With Variable Foci |
|
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz... |
ORPHA:98820 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Hypotonia, Opisthotonus, Choreoathetosis, Se... |
ORPHA:13 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Axial hypotonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor,... |
ORPHA:352649 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculomotor aprax... |
OMIM:208920 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... |
ORPHA:276435 |
Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hypot... |
OMIM:619301 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Cerebellar atrophy, Progressive external ophthalmoplegia, Broad-based gait, Ataxia, Clonus, Ophth... |
OMIM:616479 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Postural tremor, Chorea, Loss of Purkinje cells in the cerebellar vermis, Imp... |
ORPHA:98755 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia, Seizur... |
OMIM:611603 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... |
OMIM:128100 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... |
OMIM:601098 |
Dystonia 21 |
|
Blepharospasm, Torticollis, Laryngeal dystonia |
OMIM:614588 |
Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Hemi... |
ORPHA:101071 |
X-Linked Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospa... |
ORPHA:53351 |
Developmental And Epileptic Encephalopathy 110 |
|
Pain insensitivity, Chorea, Generalized non-motor (absence) seizure, Focal impaired awareness hem... |
OMIM:620149 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Spastic pa... |
OMIM:615643 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Tubular Aggregate Myopathy |
|
Fatiguable weakness of proximal limb muscles, Fatigable weakness |
ORPHA:2593 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Lower limb spasticity, Abnormal cerebellum morphology, Babinski sign, Pseudobulbar paralysis, Gai... |
ORPHA:101006 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia |
OMIM:614306 |
Hypermanganesemia With Dystonia 2 |
|
Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Ce... |
OMIM:617013 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Cerebellar atrophy, Spastic tetraparesis, Inability to walk, Seizure, Dandy-Walker malformation |
ORPHA:438178 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Seizure, Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
Leukodystrophy, Hypomyelinating, 25 |
|
Gait ataxia, Seizure, Hypotonia, Dystonia |
OMIM:620243 |
Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Upper limb hypert... |
OMIM:613672 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Cerebral palsy, Unsteady gait, Seizure, Dystonia, Spasticity |
OMIM:301107 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Somatic sensory dysfunction, Gait ataxia, Progressive cerebellar ataxia, Paresthesia, Spasticity,... |
ORPHA:466794 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebellar atrophy, Abnormal pyramidal sign, Tetraplegia, Cerebral atrophy, Seizure |
OMIM:300475 |
Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brai... |
OMIM:616267 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Axonal degeneration, Dysm... |
OMIM:302800 |
Pontocerebellar Hypoplasia, Type 6 |
|
Appendicular spasticity, Lower limb spasticity, Cerebellar atrophy, Generalized-onset seizure, Ce... |
OMIM:611523 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101078 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Axial hypotonia, Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Abnormal pyr... |
ORPHA:280219 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Seizure, Unsteady gait, Ataxia |
OMIM:300861 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Generalized-onset seizure, Cerebellar vermis hypoplasia, Infantile spasms, Hemiparesis, Seizure, ... |
OMIM:610031 |
Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ... |
OMIM:614153 |
Huntington Disease-Like 3 |
|
Caudate atrophy, Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Abnormality of extrapyra... |
OMIM:604802 |
Aicardi-Goutieres Syndrome 2 |
|
Spastic paraplegia, Cerebral atrophy, Dystonia |
OMIM:610181 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... |
OMIM:617270 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:615637 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Ataxia, Seizure, Athetosis, Dystonia, Spasticity |
OMIM:612951 |
Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Spastic tetraplegia, Temporal cortical atrophy, Seizure, Athetosis, Hypertoni... |
ORPHA:621 |
Hyperekplexia 4 |
|
Hypsarrhythmia, Seizure, Respiratory failure, Hypertonia, Myoclonus |
OMIM:618011 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Seizure, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal cerebe... |
ORPHA:33445 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Difficulty walking, Febrile... |
ORPHA:477673 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Benign Familial Neonatal-Infantile Seizures |
|
Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, Focal clonic seizure, Episodic ata... |
ORPHA:140927 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Waddling gait, Overweight, Inability to walk, Spastic paraplegia, Babinski sign, Seizure, Hyperto... |
OMIM:614066 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Gait ataxia |
ORPHA:438134 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Inability to walk, Seizure, Cerebellar atrophy, Appendicular spasticity |
OMIM:618324 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Dystonia, Axial hypotonia, Parkinsonism, Spastic tetraparesis, Generalized dystonia, Inability to... |
OMIM:619653 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebral atrophy, Multifocal seizures, Involuntary movements, Upper limb postural tremor,... |
ORPHA:477774 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... |
ORPHA:247815 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Benign Familial Neonatal Epilepsy |
|
Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure... |
ORPHA:1949 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Seizure, Ataxia, Gait disturbance |
ORPHA:85317 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Axial hypotonia, Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetos... |
OMIM:261640 |
Unilateral Focal Polymicrogyria |
|
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... |
ORPHA:268947 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Oculomotor apraxia, Unsteady gait, Dysmetria, Generalized hyp... |
OMIM:614867 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Gait disturbance, Dystonia... |
ORPHA:542310 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Clonus, Impaired proprioception, Upper limb hypertonia, Limb dystonia |
ORPHA:319199 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Decreased miniature endplate potentials |
OMIM:608930 |
Spinocerebellar Ataxia 25 |
|
Cerebellar atrophy, Ataxia, Impaired pain sensation, Babinski sign, Abolished vibration sense, Oc... |
OMIM:608703 |
Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Parkinsonism, Akinesia, Limb ataxia, Gait ataxia, Co... |
OMIM:607454 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Facial Onset Sensory And Motor Neuronopathy |
|
Paresthesia, Fasciculations |
ORPHA:85162 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Generalized hypotonia, Dystonia, Difficulty walk... |
ORPHA:306669 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... |
OMIM:607745 |
Kaya-Barakat-Masson Syndrome |
|
Cerebellar atrophy, Axial hypotonia, Spastic tetraplegia, Cerebral atrophy, Generalized hypotonia... |
OMIM:619125 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Spasticity, Seizure, Palatal tremor |
ORPHA:363717 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Hypertonia |
OMIM:613869 |
Alpers-Huttenlocher Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... |
ORPHA:726 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Spastic tetraparesis, Cerebellar vermis atrophy, Cerebral atrophy, Seizure, Spasticity, Dandy-Wal... |
OMIM:616154 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Torticollis, Head tremor, Dystonia, Intention tremor |
OMIM:613724 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hypotonia, Bilateral tonic-clonic seizure, Myoclonus, Dystonia |
ORPHA:139406 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Cerebellar atrophy, Babinski sign, Abnormal pyramidal sign, Progressive spastic quadriplegia, Pro... |
ORPHA:513436 |
Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Inabi... |
OMIM:617976 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:616033 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait disturbance, Aplasia/Hypoplasia of the cerebellum |
ORPHA:2585 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Axial hypotonia, Dystonia, Ataxia, Rigidity, Head titu... |
OMIM:608804 |
Combined Oxidative Phosphorylation Deficiency 35 |
|
Spasticity, EEG abnormality, Generalized hypotonia, Dystonia, Generalized myoclonic seizure, Febr... |
OMIM:617873 |
Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Cerebral cortical ... |
OMIM:609924 |
Joubert Syndrome 25 |
|
Oculomotor apraxia, Ataxia, Cerebellar hypoplasia |
OMIM:616781 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... |
OMIM:616710 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency |
|
Dysmetria, Gait ataxia, Seizure, Dysdiadochokinesis, Limb dysmetria |
ORPHA:324262 |
Leukodystrophy, Hypomyelinating, 20 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia, Dystonia |
OMIM:619071 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Cerebellar atrophy, Facial hypotonia, Babinski sign, Hypotonia, Spastic dysarthria... |
ORPHA:280763 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... |
OMIM:277460 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Atrophy of th... |
ORPHA:395 |
Perrault Syndrome 1 |
|
Cerebellar atrophy, Ataxia, Spastic diplegia, Gait ataxia, Intention tremor |
OMIM:233400 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Seizure, Ataxia |
OMIM:618951 |
Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hypot... |
OMIM:619302 |
Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... |
ORPHA:98757 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ... |
OMIM:602481 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Multifocal seizures, Axial hypotonia, Ataxia, Involuntary movements, Choreoathetosis, Status epil... |
OMIM:615905 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Neonatal hypotonia, Generalized dystonia, Ataxia, Hypotonia, Choreoathetosis... |
OMIM:245348 |
Osteomesopyknosis |
|
Infertility |
OMIM:166450 |
Developmental And Epileptic Encephalopathy 107 |
|
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure |
OMIM:620033 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... |
OMIM:610042 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Axial hypotonia, Bilateral tonic-clonic seizure, Ataxia, Un... |
ORPHA:464282 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Sei... |
OMIM:300894 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Positive Romberg sign, Cerebellar vermis at... |
OMIM:614575 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
Spastic Paraplegia Type 7 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Babinski sign, Abnormal pyramidal sign, Impaired... |
ORPHA:99013 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... |
ORPHA:240094 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Clonic seizure, Spastic tetraplegia, Seizure, Self-injurious behavior, Hypertonia, Abnormal repet... |
OMIM:615282 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Clumsiness |
OMIM:300558 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Dysmetria |
OMIM:618098 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... |
OMIM:300623 |
Developmental And Epileptic Encephalopathy 5 |
|
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, Seizure, Atrophy/Degeneration affectin... |
OMIM:613477 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Hypotonia, Dysmetria, Truncal ataxia, Seizure, Myoclonus, Dystonia, Fail... |
OMIM:250620 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Status epilepticus, Spasticity, Intent... |
OMIM:614307 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Incoordination, Ataxia, Episodic generalized hypotonia, Hypotonia, Dysmetria, Gait ataxia, Trunca... |
OMIM:601338 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Seizu... |
ORPHA:363654 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Postural tremor, Ataxia, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ... |
OMIM:607694 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, EEG abnormality, Hyperkinetic ... |
OMIM:618218 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Intention tremor |
OMIM:620221 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paresthesia, Paralysis |
OMIM:612740 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... |
OMIM:137440 |
Spastic Paraplegia 70, Autosomal Recessive |
|
Ankle clonus, Somatic sensory dysfunction, Fasciculations, Spasticity |
OMIM:620323 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Paresthesia, Myoclonus |
OMIM:102300 |
Spinocerebellar Ataxia 47 |
|
Ataxia, Chorea, Dysmetria, Seizure, Spasticity, Cerebellar vermis atrophy |
OMIM:617931 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Ataxia, Spastic paraplegia, Poor gross motor coordination, Spastic tetraplegia, Unsteady gait, Po... |
OMIM:245349 |
Lissencephaly Due To Lis1 Mutation |
|
Cerebellar vermis hypoplasia, EEG with changes in voltage, Infantile spasms, Focal motor seizure,... |
ORPHA:95232 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Leukodystrophy, Hypomyelinating, 17 |
|
Inability to walk, Seizure, Cerebellar atrophy, Cerebral atrophy |
OMIM:618006 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... |
OMIM:113610 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Distal sensory impairment, Spasticity, Inte... |
OMIM:612674 |
N-Acetylaspartate Deficiency |
|
Seizure, Abnormal repetitive mannerisms, Self-mutilation, Truncal ataxia |
OMIM:614063 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Axial hypotonia, Bilateral tonic-clonic seizure with generalized onset, Cerebral palsy, Chorea, B... |
OMIM:618451 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Spastic tetraplegia, Choreoathetosis, Seizure, Generalized hypotonia, Dystonia, Spasticity, Failu... |
OMIM:618238 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Axial hypotonia, Ataxia, Hypotonia, Spasticity, Falls, Generalized hypotonia, Dystonia, Febrile s... |
OMIM:619224 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere... |
ORPHA:254881 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Hypotonia, Clumsiness, Blepharosp... |
OMIM:617282 |
Joubert Syndrome 24 |
|
Ataxia, Dysmetria, Gait disturbance, Cerebellar hypoplasia, Spasticity |
OMIM:616654 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gait disturbance, Fascicu... |
OMIM:608030 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Inability to walk, Tremor |
OMIM:616269 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor |
OMIM:606438 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, T... |
ORPHA:98768 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Ankle clonus, Hemiparesis, Respiratory failure, Tongue fasciculations, Tetraparesis |
OMIM:600561 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia |
OMIM:619724 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
Spastic Paraplegia 86, Autosomal Recessive |
|
Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis, Febrile seizure (w... |
OMIM:619735 |
Developmental And Epileptic Encephalopathy 65 |
|
Cerebellar atrophy, Seizure, Spasticity, Cerebral atrophy |
OMIM:618008 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical absence status... |
ORPHA:225147 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Spastic ataxia, Ataxia, Loss of Purkinje cells in the cerebellar verm... |
OMIM:270550 |
Huntington Disease-Like 3 |
|
Broad-based gait, Extrapyramidal muscular rigidity, Caudate atrophy, Chorea, Abnormal pyramidal s... |
ORPHA:157946 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Tongue fasciculations, Spastic tetraparesis |
OMIM:616081 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Cerebral palsy, Oculogyric crisis, Small for gestational age, Tremor, Rigidity, ... |
ORPHA:70594 |
Raynaud-Claes Syndrome |
|
Lower limb spasticity, Hypotonia, Seizure, Progressive cerebellar ataxia, Focal impaired awarenes... |
OMIM:300114 |
Peho-Like Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
OMIM:617507 |
Spinocerebellar Ataxia 27A |
|
Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:193003 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Seizure, Dysdiadochokinesis, Hypertonia, My... |
OMIM:618356 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Tongue fasciculations, Respiratory insufficiency |
OMIM:253300 |
Leukodystrophy, Hypomyelinating, 15 |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Athetosis, Loss o... |
OMIM:617951 |
Leukodystrophy, Hypomyelinating, 9 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Babinski sign, Dysmetria, Cerebral atrophy, Pseud... |
OMIM:616140 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Limb myoclonus, Limb atax... |
ORPHA:276198 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Chorea, Ataxia |
OMIM:618683 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Inability to walk, EEG abnor... |
ORPHA:457205 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Paralysis, Hypotonia, Cerebral atrophy, Generalized hypotonia |
OMIM:616286 |
4H Leukodystrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Seizure, Dysdiadochokinesis, Progressive gait atax... |
ORPHA:289494 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Axial hypotonia, Facial hypotonia, Ataxia, Parkinsonism, Tremor, Spastic parapleg... |
OMIM:300055 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Spastic paraplegia, B... |
OMIM:606693 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... |
OMIM:256600 |
3-Methylglutaconic Aciduria, Type I |
|
Ataxia, Spastic tetraplegia, Spasticity, Athetosis, Dystonia, Febrile seizure (within the age ran... |
OMIM:250950 |
Foxg1 Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to walk, Hypoton... |
ORPHA:561854 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic para... |
ORPHA:329308 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Sei... |
ORPHA:363400 |
Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Babinski sign, D... |
ORPHA:88644 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebellar atrophy, Babinski sign, Cerebral atrophy, Sensory ataxia, Gait ataxia, Atrophy/Degener... |
OMIM:616192 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
Machado-Joseph Disease |
|
Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism,... |
OMIM:109150 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,... |
OMIM:612164 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hypoplasia of the pons, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, Hy... |
OMIM:607596 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Bilateral tonic-clonic seizure, Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... |
OMIM:607876 |
Developmental And Epileptic Encephalopathy 51 |
|
Cerebellar atrophy, Epileptic spasm, Corpus callosum atrophy, Focal-onset seizure, Inability to w... |
OMIM:617339 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Seizure, Spasticity, Ataxia |
OMIM:300983 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Seizure, Broad-based gait, Spastic tetraparesis |
OMIM:619470 |
Episodic Ataxia, Type 2 |
|
Progressive cerebellar ataxia, Paresthesia, Dystonia, Episodic ataxia, Cerebellar vermis atrophy |
OMIM:108500 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Hypotonia, Dysmetria, Gait... |
OMIM:616505 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Dystonia, Paralysis |
OMIM:300857 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Ataxia, Hypotonia, Seizure, Myoclonus, Dystonia, Spasticity |
OMIM:620094 |
Spinocerebellar Ataxia Type 6 |
|
Incoordination, Babinski sign, Unsteady gait, Gait ataxia, Blepharospasm, Progressive cerebellar ... |
ORPHA:98758 |
Developmental And Epileptic Encephalopathy 48 |
|
Cerebellar atrophy, Cerebral atrophy, Seizure, Status epilepticus, Limb hypertonia |
OMIM:617276 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Distal sensory impairment, Bradykinesia, Cogwheel r... |
ORPHA:254886 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, EEG with burst suppression, Myoclonic seizure, Seizure, Res... |
ORPHA:168486 |
Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Hypotonia, Generalized hypotonia, Dystonia |
OMIM:618244 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... |
ORPHA:64280 |
Pontocerebellar Hypoplasia, Type 2B |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Clonus, Tonic seizure, Chorea, Babinski sign, C... |
OMIM:612389 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A... |
OMIM:309548 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Rigidity, Respiratory failure, Myoclonus, Aspiration pneumonia |
OMIM:619057 |
Cdkl5-Deficiency Disorder |
|
Infantile spasms, Impaired pain sensation, Focal-onset seizure, Abnormal respiratory system physi... |
ORPHA:505652 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Parkinsonis... |
ORPHA:300605 |
Alzheimer Disease 3 |
|
Spastic tetraparesis, Babinski sign, Seizure, Gait disturbance, Myoclonus, Abnormality of extrapy... |
OMIM:607822 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... |
OMIM:618877 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, EEG with abnormally slow frequencies, Chorea, Multifocal epileptiform discharges, Seizure... |
ORPHA:70472 |
Huppke-Brendel Syndrome |
|
Inability to walk, Seizure, Cerebellar atrophy, Cerebral atrophy |
OMIM:614482 |
Prune1-Related Neurological Syndrome |
|
Cerebellar atrophy, Epileptic spasm, Clonus, Spastic tetraparesis, Inability to walk, Cerebral at... |
ORPHA:544469 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... |
ORPHA:101077 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Chorea, Cogwheel rigidity, ... |
OMIM:619725 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Ataxia, Upper... |
OMIM:205100 |
Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Impaired pain sensation, Abnormal cerebellum morphology, Ab... |
ORPHA:1532 |
Gillespie Syndrome |
|
Cerebellar atrophy, Postural tremor, Ataxia, Slurred speech, Cerebellar hypoplasia |
OMIM:206700 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Postural tremor, Ataxia, Impaired distal proprioception, Babinski sign, Impaired vibration sensat... |
ORPHA:447896 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paralysis |
OMIM:608634 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Incoordination, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, Abno... |
OMIM:616688 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Clumsiness, Stereotypical body rocking, Agitatio... |
ORPHA:100973 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Difficulty walking, Dystonia |
OMIM:616684 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Dystonia, Limb hypertonia |
OMIM:618247 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Seizure, Tip-toe gait, Gait disturbance, Abnormal posturing |
ORPHA:216866 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Infantile spasms, Tonic seizure, Focal-onset seizure, Seizure, Spasticity, Abnormal repetitive ma... |
OMIM:617393 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Seizure, Gait disturbance |
OMIM:603472 |
Kcnq2-Related Epileptic Encephalopathy |
|
Epileptic spasm, Inability to walk, EEG with burst suppression, Poor gross motor coordination, Hy... |
ORPHA:439218 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to ... |
ORPHA:845 |
Cln3 Disease |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Ataxia, Foc... |
ORPHA:228346 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Choreoathetosis, Seizure, Generalized hypotonia, Dystonia, Frequent falls |
OMIM:618416 |
Leber Optic Atrophy And Dystonia |
|
Bradykinesia, Athetosis, Dystonia, Spasticity, Upper motor neuron dysfunction |
OMIM:500001 |
Peroxisome Biogenesis Disorder 6B |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Impaired distal vibration sensation, Un... |
OMIM:614871 |
Hyperprolinemia Type 2 |
|
Early onset absence seizures, Generalized-onset seizure, Dysesthesia, Unsteady gait, Distal senso... |
ORPHA:79101 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, Spastic tetraplegia, Generalized hypotonia, Dystonia |
OMIM:618237 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... |
ORPHA:254343 |
Primary Dystonia, Dyt4 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Upper limb postural tremor, Blepharospa... |
ORPHA:98805 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Paralysis |
OMIM:605285 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Abnormal cerebellum... |
OMIM:618056 |
16P11.2P12.2 Microduplication Syndrome |
|
Seizure, Dystonia |
ORPHA:261204 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance |
ORPHA:99014 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Chiari type I malformation, Generalized-onset seizure |
ORPHA:459074 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Abnormal cerebellum morphology, Babinski sign, Spastic... |
OMIM:275900 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Ge... |
OMIM:233910 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Pontocerebell... |
OMIM:618060 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Alexander Disease |
|
Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Abnormal dentate nucleus morphology,... |
OMIM:203450 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
ORPHA:275864 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... |
ORPHA:98795 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Christianson Syndrome |
|
Cerebellar atrophy, Generalized-onset seizure, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of... |
ORPHA:85278 |
Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U... |
ORPHA:458803 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus |
OMIM:619780 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Generalized non-motor ... |
OMIM:615398 |
Baralle-Macken Syndrome |
|
Focal-onset seizure, Inability to walk, Obesity, Dystonia, Neonatal hypotonia, Spasticity |
OMIM:619255 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Cerebellar atrophy, Dysmetria, Cerebral atrophy, Seizure, Spasticity |
OMIM:301006 |
Combined Saposin Deficiency |
|
Babinski sign, Myoclonus, Fasciculations, Hyperkinetic movements |
OMIM:611721 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Ataxia, Central hypoventilation, Apnea, Dysmetria, Seizure, Respiratory failure, Dysphagia |
OMIM:618233 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Seizure, EEG abnormality, Self-injurious behavior, Bruxism, Spasticity, Ab... |
OMIM:618718 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... |
ORPHA:64753 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Adult Krabbe Disease |
|
Hoffmann sign, Upper limb muscle weakness, Lower limb muscle weakness, Abnormal medulla oblongata... |
ORPHA:206448 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Myoclonic seizure |
OMIM:619690 |
Huntington Disease |
|
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br... |
ORPHA:399 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypoplasia of the pons, Impaired proprioception, Hand tremor, Head tremor, Ophthalmoplegia, Gait ... |
ORPHA:412057 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Axial hypotonia, Rigidity, Truncal titubation, Chorea, Inability to walk, Abnormal pyramidal sign... |
OMIM:607483 |
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Lower limb spasticity, Ataxia, Focal-onset seizure, Dysmetria, Lower limb hypertonia, Pseudobulba... |
ORPHA:438114 |
Developmental And Epileptic Encephalopathy 90 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Babinski sign, Cerebral atrophy, Ankle clonu... |
OMIM:301058 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok... |
OMIM:614381 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal... |
ORPHA:276241 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Pain insensitivity, Ataxia, Tonic seizure, Rigidity, Inability to walk, Ch... |
OMIM:300260 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Spastic paraparesis |
ORPHA:391417 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Fasciculations |
ORPHA:65684 |
Spinocerebellar Ataxia 1 |
|
Impaired vibratory sensation, Dilated fourth ventricle, Impaired pain sensation, Chorea, Babinski... |
OMIM:164400 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar atrophy, Tip-toe gait, Difficulty walking, Frequent falls, Cerebellar cyst |
ORPHA:370980 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Seizure, Limb hyp... |
OMIM:612936 |
Periventricular Nodular Heterotopia 7 |
|
Seizure, Ataxia, Generalized non-motor (absence) seizure, Infantile spasms |
OMIM:617201 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Hypoesthesia, Vocal cord paralysis, Hand paresthesia |
OMIM:162500 |
Developmental And Epileptic Encephalopathy 86 |
|
Dystonia, Small for gestational age, Generalized hypotonia, Myoclonic seizure |
OMIM:618910 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Babinski sign, Hypotonia, Spastic tetraplegia, Generalized hypotonia, Dystonia |
OMIM:252650 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... |
ORPHA:457351 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Cerebellar atrophy, Lower limb spasticity, Generalized-onset seizure, Akinesia, Abnormal pyramida... |
OMIM:618249 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Axial hypotonia, Ataxia, Inability to walk, Dysmetria, Cerebellar hypoplasia, Dystonia, Oculomoto... |
OMIM:618087 |
Allan-Herndon-Dudley Syndrome |
|
Axial hypotonia, Ataxia, Small for gestational age, Failure to thrive in infancy, Babinski sign, ... |
ORPHA:59 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Seizure, Cerebellar hypoplasia |
OMIM:616171 |
Posttransplant Acute Limbic Encephalitis |
|
Ataxia, EEG with abnormally slow frequencies, EEG with focal epileptiform discharges, Seizure, My... |
ORPHA:163921 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Seizure, Ataxia |
ORPHA:3233 |
Pontocerebellar Hypoplasia, Type 1B |
|
Cerebellar atrophy, Cerebral atrophy, Seizure, Tongue fasciculations, Oculomotor apraxia, Spastic... |
OMIM:614678 |
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 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
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Respiratory failure, Tongue fasciculations, Dysphagia, Fasciculations |
OMIM:613435 |
Early Infantile Epileptic Encephalopathy |
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Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Infantile spasms, G... |
ORPHA:1934 |
Waisman Syndrome |
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Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure, Shuffling gait,... |
OMIM:311510 |
Coenzyme Q10 Deficiency, Primary, 5 |
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Cerebellar atrophy, Hypotonia, Cerebral atrophy, Hypertonia, Generalized hypotonia, Dystonia |
OMIM:614654 |
Neurodegeneration With Brain Iron Accumulation 4 |
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Cerebellar atrophy, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal p... |
OMIM:614298 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... |
ORPHA:320401 |
Immunodeficiency 95 |
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Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
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Cerebellar atrophy, Diffuse cerebral atrophy, Axial hypotonia, Ataxia, Tremor, Spastic tetraplegi... |
OMIM:617710 |
Proximal Myopathy With Extrapyramidal Signs |
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Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ... |
ORPHA:401768 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
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Spastic ataxia, Cerebellar atrophy, Spastic tetraparesis, Progressive spastic paraparesis, Seizure |
ORPHA:496756 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
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Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Impai... |
OMIM:607706 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
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Respiratory distress, Generalized-onset seizure, Respiratory insufficiency due to muscle weakness... |
ORPHA:254875 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
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Bilateral tonic-clonic seizure, Involuntary movements, Focal hyperkinetic seizure, Increased thet... |
ORPHA:98784 |
Neuroferritinopathy |
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Resting tremor, Abnormal dentate nucleus morphology, Caudate atrophy, Writer's cramp, Parkinsonis... |
ORPHA:157846 |
Combined Oxidative Phosphorylation Deficiency 27 |
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Cerebellar atrophy, Bilateral tonic-clonic seizure, Chorea, Cerebral atrophy, Opisthotonus, Statu... |
OMIM:616672 |
Myasthenic Syndrome, Congenital, 12 |
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Fatigable weakness |
OMIM:610542 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
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Tremor, Babinski sign, Distal sensory impairment, Steppage gait, Hypertonia, Spasticity |
OMIM:609260 |
Episodic Ataxia Type 1 |
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Cerebellar atrophy, Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait, Hypertonia |
ORPHA:37612 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
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Cerebellar atrophy, Axial hypotonia, Ataxia, Babinski sign, Hypotonia, Generalized hypotonia, Dys... |
OMIM:618226 |
Dpm1-Cdg |
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Early onset absence seizures, Cerebellar atrophy, Ataxia, Cerebral atrophy, Seizure, Pontocerebel... |
ORPHA:79322 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
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Respiratory insufficiency due to muscle weakness, Respiratory failure |
OMIM:300717 |
Aicardi-Goutieres Syndrome 3 |
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Spasticity, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:610329 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
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Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Myocl... |
OMIM:614207 |
Intellectual Developmental Disorder, Autosomal Dominant 62 |
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Seizure, Cerebellar vermis atrophy |
OMIM:618793 |
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
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Fatigable weakness |
OMIM:616325 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cerebellar atrophy, Ataxia, Dysesthesia, Unsteady gait, Babinski sign, Limb ataxia, Gait ataxia, ... |
OMIM:619259 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
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Cerebellar atrophy, Clonus, Spastic tetraparesis, Inability to walk, Seizure, Cerebral cortical a... |
OMIM:617481 |
Myasthenic Syndrome, Congenital, 3B, Fast-Channel |
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Fatigable weakness |
OMIM:616322 |
Gerstmann-Straussler-Scheinker Syndrome |
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Dysesthesia, Abnormal cerebellum morphology, Gait ataxia, Abnormality of extrapyramidal motor fun... |
ORPHA:356 |
Autosomal Dominant Spastic Paraplegia Type 9B |
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Postural tremor, Babinski sign, Hypotonia, Focal dystonia, Spastic dysarthria, Progressive gait a... |
ORPHA:447757 |
Pelizaeus-Merzbacher Disease |
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Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... |
OMIM:312080 |
Prolactin Deficiency, Isolated |
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Irregular menstruation, Infertility |
OMIM:264110 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
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Cerebellar atrophy, Clonus, Babinski sign, Progressive cerebellar ataxia, Febrile seizure (within... |
OMIM:618868 |
Late-Infantile/Juvenile Krabbe Disease |
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Lower limb spasticity, Febrile seizure (within the age range of 3 months to 6 years), Ataxia, Tre... |
ORPHA:206443 |
Sulfite Oxidase Deficiency, Isolated |
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Axial hypotonia, Generalized dystonia, Ataxia, Cerebral atrophy, Choreoathetosis, Hypertonia, Cer... |
OMIM:272300 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
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Babinski sign, Vestibular areflexia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... |
ORPHA:504476 |
Pontocerebellar Hypoplasia, Type 3 |
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Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Seizure, Cerebellar hypoplasia, Atr... |
OMIM:608027 |
Mohr-Tranebjaerg Syndrome |
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Tremor, Spasticity, Abnormal posturing, Dysphagia |
OMIM:304700 |
New-Onset Refractory Status Epilepticus |
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Interictal EEG abnormality, Cerebellar edema, Seizure precipitated by febrile infection, Bilatera... |
ORPHA:363558 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
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Steppage gait, Fasciculations, Distal sensory impairment |
OMIM:606595 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
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Seizure, Hypertonia, Dystonia, Failure to thrive, Infantile muscular hypotonia |
ORPHA:26792 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
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Cerebellar atrophy, Tremor, Chorea, Impaired distal vibration sensation, Impaired proprioception,... |
OMIM:606002 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
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Distal sensory impairment, Paralysis |
OMIM:613710 |
Cach Syndrome |
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Cerebellar atrophy, Premature ovarian insufficiency, Truncal ataxia, Cerebral atrophy, Secondary ... |
ORPHA:135 |
Unilateral Polymicrogyria |
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Apnea, Involuntary movements, Infantile spasms, Epistaxis, Focal-onset seizure, Spastic tetrapleg... |
ORPHA:268943 |
Pontocerebellar Hypoplasia Type 1 |
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Ataxia, Congenital laryngeal stridor, Seizure, Respiratory failure, Tongue fasciculations, Spasti... |
ORPHA:2254 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
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Lower limb spasticity, Babinski sign, Ankle clonus, Respiratory failure, Fasciculations, Tetrapar... |
OMIM:613954 |
Developmental And Epileptic Encephalopathy 46 |
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Generalized-onset seizure, Tremor, Cerebral atrophy, Seizure, Limb hypertonia |
OMIM:617162 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
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Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia... |
OMIM:617854 |
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 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Cerebellar atrophy, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Seizure, Dysdiad... |
OMIM:610217 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
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Axial hypotonia, Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Cerebellar hypoplasia, Dystonia |
OMIM:619422 |
Developmental And Epileptic Encephalopathy 106 |
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Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Cerebellar... |
OMIM:620028 |
Acute Peripheral Arterial Occlusion |
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Paresthesia, Impaired distal tactile sensation, Paralysis |
ORPHA:90064 |
Familial Or Sporadic Hemiplegic Migraine |
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Cerebellar atrophy, Involuntary movements, Impaired temperature sensation, Dissociated sensory lo... |
ORPHA:569 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
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Infantile spasms, Head titubation, Hypotonia, Truncal ataxia, Hypsarrhythmia, Seizure, Dystonia, ... |
ORPHA:88639 |
Machado-Joseph Disease Type 3 |
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Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal... |
ORPHA:276244 |
Myasthenic Syndrome, Congenital, 16 |
|
Fatigable weakness |
OMIM:614198 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
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Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign, Gait ataxia, Seizure, Hy... |
OMIM:620089 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Seizure, Respi... |
OMIM:312170 |
Postsynaptic Congenital Myasthenic Syndromes |
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Fatigable weakness of respiratory muscles, Fatigable weakness of neck muscles, Decreased miniatur... |
ORPHA:98913 |
Autosomal Recessive Spastic Paraplegia Type 48 |
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Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressi... |
ORPHA:306511 |
Nicolaides-Baraitser Syndrome |
|
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure |
ORPHA:3051 |
Developmental And Epileptic Encephalopathy 38 |
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Multifocal seizures, Axial hypotonia, Ataxia, Hypsarrhythmia, Status epilepticus, Dystonia, Limb ... |
OMIM:617020 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
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Cerebellar atrophy, Inability to walk, Hypotonia, Abnormality of extrapyramidal motor function, G... |
OMIM:614739 |
Recessive Mitochondrial Ataxia Syndrome |
|
Impaired vibratory sensation, Ataxia, Dysmetria, Seizure, Gait disturbance, Positive Romberg sign... |
ORPHA:94125 |
Cerebral Cavernous Malformations 3 |
|
Seizure, Paralysis |
OMIM:603285 |
Lissencephaly 2 |
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Hypoplasia of the pons, Generalized-onset seizure, Cerebellar hypoplasia |
OMIM:257320 |
Roussy-Levy Hereditary Areflexic Dystasia |
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Distal sensory impairment, Action tremor, Upper limb postural tremor, Gait ataxia |
OMIM:180800 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Spastic... |
ORPHA:79351 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Cerebellar atrophy, Seizure, Status epilepticus, Ataxia |
OMIM:611182 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Cerebral atrophy, Gait disturban... |
OMIM:615838 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
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Axial hypotonia, Spastic tetraparesis, Hypotonia, Seizure, EEG abnormality, Dystonia |
OMIM:617668 |
Dystonia 28 |
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Torticollis, Generalized dystonia, Abnormal pyramidal sign, Leg dystonia, Arm dystonia, Oromandib... |
ORPHA:589618 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Impaired vibration sensation in the lower limbs, Gait ataxia, Spastic dysarthria, Progressive cer... |
ORPHA:95433 |
Spontaneous Periodic Hypothermia |
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Tremor, Seizure, Ataxia, Gait disturbance |
ORPHA:29822 |
Parasomnia, Sleep Bruxism Type |
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Myoclonus, Bruxism |
OMIM:606840 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ... |
OMIM:272750 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Hypotonia, Spastic tetraplegi... |
OMIM:250100 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia, Seizure |
ORPHA:3124 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... |
ORPHA:370022 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Ataxia, Generalized clonic seizure, Tremor, Focal-onset seizure, Inability... |
OMIM:619229 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Seizure, Hypertonia, Cerebellar hypoplasia |
OMIM:619556 |
Cog8-Cdg |
|
Cerebellar atrophy, Ataxia, Seizure, Myoclonus, Atrophy/Degeneration affecting the brainstem |
ORPHA:95428 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Gait disturbance, Shu... |
ORPHA:289560 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... |
OMIM:608049 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Seizure, Typical absence seizure |
ORPHA:576283 |
Lipoyltransferase 1 Deficiency |
|
Cerebellar atrophy, Axial hypotonia, Spastic tetraparesis, Hypotonia, Abnormality of extrapyramid... |
OMIM:616299 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Speech apraxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention def... |
OMIM:613670 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cerebellar atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Parkinsonism, F... |
OMIM:258450 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Pontocerebellar Hypoplasia, Type 9 |
|
Axial hypotonia, Facial hypotonia, Clonus, Hypoplasia of the pons, Hypertonia, Cerebellar hypopla... |
OMIM:615809 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Oculomotor apraxia, Somatic sensory dysfunction, Ataxia, Dystonia |
ORPHA:459033 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Respiratory insufficiency due to muscle weakness, Babinski sign, Disinhibition, Dysphagia, Spasti... |
OMIM:612069 |
Hengel-Maroofian-Schols Syndrome |
|
Cerebellar atrophy, Inability to walk, Hypotonia, Tetraplegia, Cerebral atrophy, Gait imbalance, ... |
OMIM:619641 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, Hypertonia, Focal impaired awareness seizure, Generalized tonic sei... |
ORPHA:163985 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Myoclonus, G... |
OMIM:616640 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Corpus callosum atrophy, Babinsk... |
ORPHA:171629 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Hypogonadism, Infertility |
OMIM:240950 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Postural tremor, Impair... |
ORPHA:99947 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Babinski sign, Hypotonia, Seizure, Hypertonia, Dystonia, Neonatal hypotonia |
OMIM:264470 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Babinski sign, Truncal ataxia, Seizure, Myoclonus, Dystonia, Neonatal hypotonia, Spasticity |
OMIM:252011 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Hypotonia, Choreoathetosis, Seizure, Gait disturb... |
ORPHA:702 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Tremor, Inability to walk, Hypotonia, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Cerebellar atrophy, Ataxia, Inability to walk, Babinski sign, Seizure, Cerebellar hypoplasia, Apr... |
OMIM:616354 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmat... |
ORPHA:230800 |
Houge-Janssens Syndrome 3 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... |
OMIM:618354 |
Gm1-Gangliosidosis, Type Iii |
|
Diffuse cerebral atrophy, Slurred speech, Ataxia, Dystonia |
OMIM:230650 |
Nemaline Myopathy 8 |
|
Respiratory failure, Dysphagia |
OMIM:615348 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Opisthotonus, Seizure, Respiratory fa... |
OMIM:619847 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Charcot-Marie-Tooth Disease Type 4A |
|
Impaired distal proprioception, Impaired pain sensation, Decreased nerve conduction velocity, Imp... |
ORPHA:99948 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Focal impaired awareness seizure |
OMIM:616193 |
Friedreich Ataxia |
|
Inability to walk, Chorea, Babinski sign, Impaired proprioception, Dysmetria, Gait ataxia, Limb a... |
ORPHA:95 |
Nystagmus, Hereditary Vertical |
|
Abnormal vestibulo-ocular reflex, Ataxia |
OMIM:164150 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas... |
ORPHA:309246 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Seizure, Superior cerebellar dysplasia, Dandy-Walker malformation |
OMIM:617622 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Ataxia, Tachypnea, Respiratory insufficiency, Seizure, Respiratory failure,... |
OMIM:614299 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy... |
OMIM:616973 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Dystonia, Atrophy/Degeneration affecting the brainstem, Hypotonia, Brain atrophy, Generalized hyp... |
OMIM:616277 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Tremor, Seizure, Shuffling... |
ORPHA:3077 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pain insensitivity, Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Inability to w... |
OMIM:620224 |
Leigh Syndrome |
|
Ataxia, Respiratory insufficiency, Seizure, Respiratory failure, Spasticity, Abnormal pattern of ... |
OMIM:256000 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Cloni... |
OMIM:619580 |
Thyrocerebroretinal Syndrome |
|
Seizure, Slurred speech, Ataxia, Myoclonus |
OMIM:274240 |
Pontocerebellar Hypoplasia, Type 2E |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Toni... |
OMIM:615851 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Rigidity, Babinski sign, Gait disturbance, Myoclonus, Dystonia, Neuronal loss in central nervous ... |
OMIM:600795 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Hypertonia, Gait disturbance, Photosensitive myoclonic seizure, Aplasia/Hypoplasia of the... |
ORPHA:1192 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Vocal cord paralysis, Bronchiectasis, Congenital laryngeal stridor |
ORPHA:2375 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Bilateral Polymicrogyria |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, ... |
ORPHA:268940 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Small for gestational age, Inability to... |
ORPHA:79243 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Seizure, Ataxia, Hypotonia, Dystonia |
OMIM:246900 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Cerebr... |
ORPHA:79264 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Axial hypotonia, Severe muscular hypotonia, Decreased nerve conduction velocity, Choreoathetosis,... |
OMIM:614932 |
Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment |
OMIM:118300 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Cerebellar atrophy, Seizure |
OMIM:618302 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Somatic sensory dysfunction, Paraplegia |
ORPHA:71211 |
Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Ataxia, Hypotonia, Limb ataxia, Gait ataxia, Spasticity, Cerebellar cortical ... |
OMIM:248800 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
East Syndrome |
|
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Inability to walk, Seizure, Difficulty wal... |
ORPHA:199343 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Generalized non-motor (absence) seizure |
OMIM:300801 |
Rett Syndrome |
|
Dystonia, Cachexia, Gait apraxia, Gait ataxia, Seizure, EEG abnormality, Truncal ataxia, Spasticity |
OMIM:312750 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebellar atrophy, Corpus callosum atrophy, Abnormal pyramidal sign, Tetraplegia, Brain atrophy,... |
ORPHA:369939 |
Aicardi-Goutieres Syndrome 4 |
|
Cerebellar atrophy, Spasticity, Cerebral atrophy, Dystonia |
OMIM:610333 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign... |
ORPHA:98808 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Tetraplegia, Hand tremor, Degeneration of anterior horn cells, Distal sensory impairment, Gait di... |
OMIM:604484 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Loss of ambulation, Rigidity, Dystonia |
OMIM:615010 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Hypertonia, Myoclonus, Myoclonic seizure |
OMIM:618240 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Babinski sign, Gait ataxia, Clumsiness, Seizure, Progressive... |
ORPHA:309256 |
Rett Syndrome |
|
Limb apraxia, Inability to walk, Bradykinesia, Seizure, EEG abnormality, Gait disturbance, Diffic... |
ORPHA:778 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-moto... |
OMIM:615802 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral atrophy, Hypertonia, Cerebellar hemisphere hypoplasia, Spasticity |
OMIM:615095 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Focal-onset seizure, Oromotor apraxia, Hemiparesis, S... |
ORPHA:300573 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Inability to walk, Babinski si... |
ORPHA:52368 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Lower limb spasticity, Distal muscle weakness, Impaired temperature sensation, Abnormal brainstem... |
ORPHA:320365 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Axial dystonia, Tetraparesis, Generalized hypotonia, Dystonia |
OMIM:618230 |
Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
Developmental And Epileptic Encephalopathy 40 |
|
Choreoathetosis, Spasticity, Myoclonus, Spastic tetraparesis |
OMIM:617065 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Hypertonia, Focal im... |
OMIM:300607 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Cerebellar atrophy, Epileptic spasm, Myoclonus, Cerebral atrophy |
OMIM:619060 |
Developmental And Epileptic Encephalopathy 84 |
|
Epileptic spasm, Axial hypotonia, EEG with burst suppression, Chorea, Babinski sign, Opisthotonus... |
OMIM:618792 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, Limb dystonia, Lingual ... |
ORPHA:93958 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... |
OMIM:602099 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory insufficiency due to muscle weakness, Seizure, Respiratory failure |
OMIM:611890 |
Myasthenic Syndrome, Congenital, 10 |
|
Fatigable weakness |
OMIM:254300 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Choreoathetosis, Seizure, Gai... |
ORPHA:765 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Combined Malonic And Methylmalonic Acidemia |
|
Axial hypotonia, Generalized clonic seizure, Seizure, Focal impaired awareness seizure, Dystonia,... |
ORPHA:289504 |
Amyotrophic Dystonic Paraplegia |
|
Spastic paraplegia, Dystonia |
OMIM:105300 |
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 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Facial palsy, Proximal muscle weakness, Generalized muscle weakness, Tip-toe ... |
OMIM:606612 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... |
OMIM:619777 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Myoclonic seizure, Fasciculations, Brai... |
OMIM:620327 |
X-Linked Creatine Transporter Deficiency |
|
Ataxia, Cachexia, Chorea, Hypotonia, Seizure, Athetosis, Hypertonia, Dystonia |
ORPHA:52503 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Hyps... |
ORPHA:442835 |
Cog7-Cdg |
|
Cerebellar atrophy, Seizure, Subcortical cerebral atrophy, Brain atrophy |
ORPHA:79333 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Lethal Congenital Contracture Syndrome 8 |
|
Oral-pharyngeal dysphagia, Vocal cord paralysis, Distal sensory impairment |
OMIM:616287 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Temporal cortical atrophy, Gait disturbance, Tetraparesis, Brain atrophy, Dystonia, Loss of ambul... |
OMIM:167320 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Seizure, Tetraparesis |
ORPHA:140989 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Impaired distal vibration sensation, Distal sensory impairment, Steppage gait, Tip-toe gait, Fasc... |
OMIM:614436 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Opisthotonus, Gait ataxia, Seizure, Myoc... |
OMIM:103050 |
Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Bilateral tonic-clonic seizure with generalized onset, Infantile axial hypot... |
ORPHA:2524 |
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 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Abnormal brainstem morphology, Paresthesia, Myoc... |
ORPHA:79279 |
Dystonia-Aphonia Syndrome |
|
Cerebellar atrophy, Generalized dystonia, Unsteady gait, Cerebral atrophy, Gait disturbance, Myoc... |
ORPHA:412217 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Myoclonic seizure, Seizure, Bradypnea, Respi... |
OMIM:617186 |
Siddiqi Syndrome |
|
Seizure, Limb dystonia |
OMIM:618635 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Ataxia |
ORPHA:71518 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Dystonia |
OMIM:250850 |
Congenital Disorder Of Glycosylation, Type In |
|
Spasticity, Ataxia, Myoclonus |
OMIM:612015 |
Pontocerebellar Hypoplasia Type 4 |
|
Hypertonia, Myoclonus, Olivopontocerebellar hypoplasia |
ORPHA:166063 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Decreased distal sensory nerve action potential, Distal sensory impairment, Stridor, Respiratory ... |
OMIM:606071 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebellar atrophy, Corpus callosum atrophy, Tetraplegia, Opisthotonus, Cerebral atrophy, Seizure... |
OMIM:619272 |
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development |
|
Postural tremor, Ataxia, Hypotonia, Generalized hypotonia |
OMIM:300619 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Cerebellar atrophy, Axial hypotonia, Spastic tetraparesis, Generalized hypotonia |
OMIM:618506 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with... |
ORPHA:163681 |
Infantile Spasms Syndrome |
|
Myoclonus |
ORPHA:3451 |
Angelman Syndrome |
|
Broad-based gait, Ataxia, Infantile spasms, Tremor, Inability to walk, Seizure, Status epilepticu... |
ORPHA:72 |
3P25.3 Microdeletion Syndrome |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
ORPHA:435638 |
Srd5A3-Cdg |
|
Cerebellar atrophy, Ataxia, Abnormal cerebellum morphology, Seizure, Abnormal cerebellar vermis m... |
ORPHA:324737 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, G... |
OMIM:300912 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Seizure, Respiratory failure, Ataxia |
ORPHA:1861 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology, Spastic diplegia, Cerebral atrophy... |
ORPHA:255182 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Axial hypotonia, Ataxia, Spastic tetraparesis, Cerebellar gliosis, Unsteady g... |
ORPHA:35069 |
Shukla-Vernon Syndrome |
|
Cerebellar atrophy, Seizure, Broad-based gait |
OMIM:301029 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Ankle clonu... |
OMIM:213700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Cerebellar atrophy, Ataxia, Photosensitive tonic-clonic seizure, Loss of ability to walk in first... |
OMIM:300243 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Parkinsonism, Abnormal cerebellum morphology, Abnormality of extrapyramidal motor function, Myocl... |
OMIM:204200 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus |
OMIM:217200 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Fal... |
ORPHA:683 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebellar atrophy, Focal-onset seizure, Inability to walk, Cerebral atrophy, Seizure, Status epi... |
OMIM:617802 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Generalized-onset seizure, Hypotonia, Seizure, EEG abnormality, Generalized hypotonia, Dystonia |
OMIM:617268 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Clonus, Tremor, Chorea, Hypotonia, Clumsiness, Choreoathetosis, Abnormality of extrapyram... |
OMIM:615673 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Incoordination, Hyperactivity, Paralysis, Aggressive behavior, Parap... |
ORPHA:43 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Lower limb spasticity, Epileptic spasm, Diffuse cerebral atrophy, Bilateral t... |
OMIM:617193 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Cerebellar atrophy, Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ... |
ORPHA:431361 |
Cimdag Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Chorea, Hypotonia, Cerebral atrophy, Pontocerebellar atroph... |
OMIM:619273 |
Ravine Syndrome |
|
Spasticity, Abnormal brainstem morphology, Ataxia, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Gait ataxia |
OMIM:609425 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Weakness due to upper motor neuron d... |
ORPHA:466722 |
Niemann-Pick Disease, Type C2 |
|
Neonatal respiratory distress, Ataxia, Respiratory insufficiency, Seizure, Respiratory failure, D... |
OMIM:607625 |
Amyotrophic Lateral Sclerosis |
|
Paralysis, Dyspnea, Abnormal respiratory system physiology, Respiratory failure, Agitation, Spast... |
ORPHA:803 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Seizure, Respiratory failure, Spastic tetraplegia, Respiratory insufficiency |
OMIM:615330 |
Cystathioninuria |
|
Tremor, Seizure |
ORPHA:212 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Loss of ability to walk in early childhood, Unsteady gait, Babinski sign, Spastic diplegi... |
ORPHA:401866 |
Phosphoserine Aminotransferase Deficiency |
|
Hypertonia, Cerebellar vermis hypoplasia, Myoclonus |
OMIM:610992 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Decreased nerve conduction velocity, Diaphragmatic paralysis, Tachypnea, Respiratory failure, Ins... |
OMIM:604320 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Seizure, Hyperkinetic movem... |
OMIM:300957 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Dystonia, Hypotonia, Cerebellar hypoplasia, Generalized hypotonia, Truncal ataxia, Intention tremor |
OMIM:614407 |
Superficial Siderosis |
|
Cerebellar atrophy, Ataxia, Impaired temperature sensation, Impaired pain sensation, Atrophy of t... |
ORPHA:247245 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gai... |
OMIM:254900 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Spastic tetraparesis, Focal-onset seizure, Respiratory insufficiency, Opisthotonus, Respiratory f... |
OMIM:605711 |
Pontocerebellar Hypoplasia, Type 2A |
|
Hypoplasia of the pons, Chorea, Opisthotonus, Cerebellar hypoplasia, Extrapyramidal dyskinesia, D... |
OMIM:277470 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Poor gross motor coordination, Respiratory insufficiency |
ORPHA:370968 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Seizure |
ORPHA:79234 |
Leukoencephalopathy With Ataxia |
|
Action tremor, Limb ataxia, Gait ataxia |
OMIM:615651 |
Developmental And Epileptic Encephalopathy 29 |
|
Axial hypotonia, Chorea, Myoclonic seizure, Blepharospasm, Limb dystonia, Spasticity, Failure to ... |
OMIM:616339 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Impaired distal vibration sensation, Spastic paraplegia, Tetraplegia, Pseu... |
OMIM:616586 |
Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pseudobulbar paralysis, Fasci... |
OMIM:105400 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Apnea |
OMIM:618414 |
Pontocerebellar Hypoplasia, Type 1D |
|
Cerebellar atrophy, Cerebral atrophy, Seizure, Tongue fasciculations, Fasciculations, Spasticity,... |
OMIM:618065 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Abnormal cerebellum morphology, Kinetic tremor |
OMIM:190310 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Upper limb spasticity, G... |
ORPHA:457240 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Spastic paraplegia, Hemiparesis, Seizure, Ga... |
ORPHA:98673 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Fasciculations, Spasticity |
OMIM:614808 |
Pontocerebellar Hypoplasia, Type 11 |
|
Ataxia, Poor coordination, Limb ataxia, Seizure, Self-injurious behavior, Attention deficit hyper... |
OMIM:617695 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Vocal cord paralysis |
OMIM:607641 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Seizure, Respiratory failure, Anorexia |
OMIM:619386 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Somatic sensory dysfunction, Steppage gait, Fasciculations, Impaired distal tactile sensation |
OMIM:600882 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Focal impaired aware... |
OMIM:620292 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Dystonia, Spasticity |
OMIM:619286 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Generalized dystonia, Bilateral tonic-clonic seizure, Focal motor seizure, Spasticity, Failure to... |
OMIM:618235 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Fasciculations, Difficulty walking |
OMIM:615575 |
Stt3A-Cdg |
|
Cerebellar atrophy, Seizure |
ORPHA:370921 |
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 |
Gaucher Disease Type 2 |
|
Generalized myoclonic seizure, Spasticity, Dystonia |
ORPHA:77260 |
Idiopathic Camptocormia |
|
Abnormal synaptic transmission at the neuromuscular junction, Fatigable weakness of skeletal muscles |
ORPHA:1320 |
Pontocerebellar Hypoplasia Type 10 |
|
Spasticity, Hypertonia, Abnormal brainstem morphology, Poor head control |
ORPHA:411493 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Fasciculations, Distal sensory impairment |
OMIM:137200 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Ataxia |
ORPHA:3350 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Fasciculations |
OMIM:619141 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... |
OMIM:168601 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Cerebellar atrophy, Axial hypotonia, Cerebral atrophy, Limb dystonia |
OMIM:620269 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... |
ORPHA:2302 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Cerebellar atrophy, Ataxia, Tremor, Inability to walk, Chorea, Hyp... |
OMIM:615356 |
Episodic Ataxia Type 7 |
|
Episodic ataxia, Hyperkinetic movements |
ORPHA:209970 |
Tryptophanuria With Dwarfism |
|
Ataxia, Gait disturbance |
OMIM:276100 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakness, Hypertonia, Foot ... |
ORPHA:466768 |
Dystonia-Deafness Syndrome 1 |
|
Generalized dystonia, Small for gestational age, Oculogyric crisis, Leg dystonia, Pseudobulbar pa... |
OMIM:607371 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Dysesthesia, Rigidity, Abnormal brainstem morphology, Dysmetria, Gait ataxi... |
ORPHA:93256 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... |
OMIM:619574 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Infantile spasms, Action tremor, Inability to walk, Chorea, Oculomotor apraxi... |
ORPHA:404454 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Febrile seizure (within the age range of 3 mo... |
ORPHA:496641 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Seizure, Status epilepticus, Myoclo... |
OMIM:607426 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Incoordination, Ataxia, Involuntary movement... |
ORPHA:209905 |
Isaacs Syndrome |
|
Fasciculations, Distal sensory impairment |
ORPHA:84142 |
Isolated Atp Synthase Deficiency |
|
Cerebellar atrophy, Ataxia, Spastic paraplegia, Hypotonia, Tetraplegia, Dystonia, Cerebral cortic... |
ORPHA:254913 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Spasticity, Ataxia, Myoclonus |
OMIM:256730 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Bilateral tonic-clonic seizure, Poor coordination, Axonal degeneration, Neurodegeneration, Myoclo... |
ORPHA:478029 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Inability to walk, Chorea, Hypotonia, Hemiparesis, Cerebellar hypoplasia, Dy... |
OMIM:618004 |
Infantile Krabbe Disease |
|
Respiratory distress, Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Decr... |
ORPHA:206436 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Ataxia, Gait ataxia, ... |
ORPHA:543470 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Dilated fourth ventric... |
ORPHA:572798 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cerebellar atrophy, Seizure, Infantile spasms, Cerebral atrophy |
OMIM:619797 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Bilateral tonic-clonic seizure, Involuntary movements, Unsteady gait, Generalized non-motor (abse... |
OMIM:617798 |
Developmental And Epileptic Encephalopathy 66 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... |
OMIM:618067 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Epileptic spasm, Generalized non-motor (absence) seizure, Seizure, Subcortical cerebral atrophy, ... |
ORPHA:96147 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Glutaric Acidemia I |
|
Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis, Seizure, Generalized hypoto... |
OMIM:231670 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Babinski sign, Clumsiness, Seizure, Progressive gait ataxia,... |
ORPHA:309263 |
Scholte Syndrome |
|
Cerebellar atrophy, Abnormal pyramidal sign, Generalized hypotonia |
OMIM:300977 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hypotonia, Choreoathetosis, Seizure, Dystonia, Failure to thrive |
ORPHA:79312 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Babinski sign, Respiratory insufficiency, Seizure, Res... |
OMIM:618186 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Seizure, Spasticity, Abnormal pyramidal sign |
OMIM:614833 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Axial dystonia, Decreased motor nerve conduction velocity, Failure to thrive in infancy, Spastic ... |
OMIM:619026 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Spastic tetraplegia, Seizure, Respiratory f... |
ORPHA:3240 |
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Cerebellar atrophy, Torticollis, Axial hypotonia, Ataxia, Limb hypertonia |
OMIM:618547 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Abnormal cerebellum morphology, Babinski sign, Impaired vibration sensation in the lower ... |
ORPHA:447753 |
Early-Onset Lafora Body Disease |
|
Seizure, Ataxia, Myoclonus, Spastic tetraparesis |
ORPHA:324290 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Parkinsonism, Paralysis |
OMIM:105500 |
Japanese Encephalitis |
|
Respiratory distress, Decreased motor nerve conduction velocity, Anorexia, Tremor, Opisthotonus, ... |
ORPHA:79139 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Pelizaeus-Merzbacher Disease In Female Carriers |
|
Lower limb spasticity, Generalized-onset seizure, Inability to walk, Babinski sign, Gait disturba... |
ORPHA:280229 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w... |
OMIM:617988 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Cataplexy, Spasticity, Cerebellar atrophy, Ataxia |
OMIM:604121 |
3-Methylglutaconic Aciduria Type 7 |
|
Pneumothorax, Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Seizure, Respir... |
ORPHA:445038 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Hypertonia, Ce... |
OMIM:615501 |
Leber Optic Atrophy |
|
Postural tremor, Ataxia, Dystonia |
OMIM:535000 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G... |
ORPHA:206594 |
Classic Galactosemia |
|
Speech apraxia, Incoordination, Postural tremor, Ataxia, Clumsiness, Seizure, Gait disturbance, G... |
ORPHA:79239 |
Snakebite Envenomation |
|
Epistaxis, Paralysis, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory failure, Respi... |
ORPHA:449285 |
Aceruloplasminemia |
|
Abnormal dentate nucleus morphology, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Ak... |
ORPHA:48818 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Cerebral atrophy, Head tremor, Atrophy... |
ORPHA:314404 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... |
OMIM:168605 |
Synaptic Congenital Myasthenic Syndromes |
|
Abnormal synaptic transmission at the neuromuscular junction, Unfavorable response of muscle weak... |
ORPHA:98915 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hypotonia, Seizure, Dystonia, Spasticity, Failure to thrive |
OMIM:614702 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements |
ORPHA:397933 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Axonal degeneration, Generalized hypotonia, Dystonia, Spasticity, Global brai... |
OMIM:616811 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Tremor, Dyspnea, Seizure, Respiratory failure, Interstitial pneum... |
ORPHA:330021 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cerebellar atrophy, Gait ataxia, Seizure, Spasticity, Spastic gait |
ORPHA:496790 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Hoffmann sign, Babinski sign... |
OMIM:601162 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Generalized dystonia |
OMIM:619025 |
Myoclonus, Intractable, Neonatal |
|
Athetosis, Chorea, Myoclonus, Dandy-Walker malformation |
OMIM:617235 |
Primary Progressive Freezing Gait |
|
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Shuffling gait, Gait imbalance, D... |
ORPHA:75567 |
Galloway-Mowat Syndrome 10 |
|
Cerebellar atrophy, Myoclonus, Cerebral atrophy |
OMIM:619609 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Tremor, Spastic diplegia, Obesity, Seizure, Generalized hypotonia, Dystonia |
ORPHA:480907 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Myoclonus, Dysmetria |
OMIM:618251 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Cerebral palsy, Repetitive compulsive behavior, Seizure, Hypertonia, Compulsive be... |
ORPHA:352490 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity |
OMIM:616840 |
Stt3B-Cdg |
|
Cerebellar atrophy, Seizure |
ORPHA:370924 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
Thyrocerebrorenal Syndrome |
|
Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
Foodborne Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... |
ORPHA:228371 |
Alexander Disease Type Ii |
|
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Spastic parap... |
ORPHA:363722 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Lower limb spasticity, Generalized non-motor (absence) seizure |
ORPHA:363686 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Axial hypotonia, Decreased nerve conduction velocity, Choreoathetosis, Lower limb hypertonia, Gen... |
ORPHA:319514 |
Lissencephaly 6 With Microcephaly |
|
Cerebellar atrophy, Seizure, Spasticity, Limb hypertonia |
OMIM:616212 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Hypertonia, Limb tremor, Myoclonus |
OMIM:300699 |
Alpha-Mannosidosis, Adult Form |
|
Cerebellar atrophy, Ataxia, Clumsiness, Subcortical cerebral atrophy, Cerebral cortical atrophy |
ORPHA:309288 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Hypsarrhythmia, Myoclonic seizure, Hypertonia, A... |
OMIM:619877 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Seizure, Cerebellar vermis atrophy |
OMIM:618347 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Babinski sign, Steppage gait, Tip-toe gai... |
OMIM:615290 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hemiplegia/hemiparesis, Chorea, Hypotonia, Choreoathetosis, Dystonia |
ORPHA:289916 |
Peho Syndrome |
|
Cerebellar atrophy, Seizure, Neuronal loss in central nervous system, Myoclonus |
OMIM:260565 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Inability to walk, Slurred speech... |
ORPHA:357058 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Cerebellar atrophy, Axial hypotonia, Corpus callosum atrophy, Cerebral atrophy, Generalized hypot... |
OMIM:616875 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Hypotonia, Spastic diplegia, C... |
ORPHA:391428 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure, Dysphagia |
OMIM:616867 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Ataxia, Seizure, Inappropriate laughter, Febrile seizure (within t... |
OMIM:614104 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Facial palsy, Inability to walk, Hypoplasia of the brainstem, Cereb... |
OMIM:613155 |
Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign, Fasciculations, Loss of ... |
OMIM:608627 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Gait disturbanc... |
ORPHA:79244 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Clonus, Olivopontocerebellar hypo... |
ORPHA:370959 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Myoclonic seizure, Seizure, Myocl... |
OMIM:614946 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cerebellar atrophy, Seizure |
OMIM:615597 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Oromotor apraxia, Spasticity, Seizure, Febrile seizure (within the age range ... |
ORPHA:466934 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Ataxia, Incoordina... |
ORPHA:480864 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Abnormal motor nerve conduction velocity, Par... |
ORPHA:2912 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Abnormal circulating enzyme concentration or activity, Lower limb spasticity, Poor head control, ... |
ORPHA:565624 |
Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Myoclonus |
OMIM:609056 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Ataxia, Tremor, Hypotonia, Cerebral atrophy, Opisthotonus, Choreoathetosis, H... |
OMIM:616271 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:616437 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, At... |
ORPHA:79138 |
Intermediate Nemaline Myopathy |
|
Respiratory failure, Dysphagia |
ORPHA:171433 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168600 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Chorea, Babinski sign, Clumsiness, Seizure, Progressive spas... |
ORPHA:309271 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... |
ORPHA:178320 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Spastic Paraplegia 51, Autosomal Recessive |
|
Cerebellar atrophy, Inability to walk, Babinski sign, Spastic paraplegia, Spastic tetraplegia, Se... |
OMIM:613744 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Cerebellar atrophy, Ataxia, Inability to walk, Dysmetria, Myoclonic seizure, Spasticity, Cerebral... |
OMIM:619576 |
Caribbean Parkinsonism |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... |
ORPHA:97355 |
Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Shufflin... |
ORPHA:171695 |
Developmental And Epileptic Encephalopathy 2 |
|
Generalized-onset seizure, Multifocal seizures, EEG with generalized slow activity, Infantile spa... |
OMIM:300672 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Epileptic spasm, Axial hypotonia, Hypsarrhythmia, Seizure, Myoclonus, Dy... |
OMIM:617669 |
Manganese Poisoning |
|
Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Gait disturbance, Abnorma... |
ORPHA:306682 |
Hereditary Hyperekplexia |
|
Ataxia, Rigidity, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Spasticity |
ORPHA:3197 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Sneddon Syndrome |
|
Tremor, Seizure, Chorea, Hemiparesis |
ORPHA:820 |
Developmental And Epileptic Encephalopathy 95 |
|
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Hypoplasia of th... |
OMIM:618143 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Epileptic spasm, Generalized-onset seizure, Small for gestational age, Bilateral tonic-clonic sei... |
OMIM:620024 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Speech apraxia, Broad-based gait, Axial hypotonia, Hypotonia, Seizure, Hypertonia, Gait disturban... |
OMIM:300352 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Cerebellar atrophy, Poor head control, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:619685 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypertonia, Unsteady gait, Myoclonus |
OMIM:610090 |
Leigh Syndrome |
|
Chorea, Choreoathetosis, Ataxia, Abnormal brainstem MRI signal intensity, Ophthalmoplegia, Atheto... |
ORPHA:506 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Dyspnea, Vocal ... |
OMIM:211530 |
Leukodystrophy, Hypomyelinating, 12 |
|
Cerebellar atrophy, Spasticity, Focal impaired awareness seizure |
OMIM:616683 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Spasticity, Ataxia, Dystonia |
OMIM:617341 |
Postencephalitic Parkinsonism |
|
Resting tremor, Oculogyric crisis, Involuntary movements, Akinesia, Rigidity, Babinski sign, Abno... |
ORPHA:97349 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Cerebral atrophy, Seizure, Hypertonia... |
OMIM:618426 |
Optic Atrophy 11 |
|
Ataxia, Gait apraxia, Dysmetria, Athetosis, Hyperkinetic movements, Cerebellar hypoplasia |
OMIM:617302 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:612337 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Spasticity, Pallidal degeneration, Dystonia |
OMIM:607236 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Axial hypotonia, Ataxia, Hypotonia, Cerebral atrophy, Tetraparesis, Brain atr... |
OMIM:619260 |
Alg1-Cdg |
|
Cerebellar atrophy, Seizure, Cerebral atrophy |
ORPHA:79327 |
Filippi Syndrome |
|
Cerebellar atrophy, Dystonia |
OMIM:272440 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Axial hypotonia, Generalized dystonia, Ataxia, Infantile spasms, Chorea, Spastic tetraplegia, Gai... |
OMIM:618321 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Frequent falls, Respiratory failure |
ORPHA:75840 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Respiratory failure, Ataxia, Titubation |
ORPHA:280210 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations |
OMIM:271200 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Cerebellar atrophy, Involuntary movements, Babinski sign, Cerebral atrophy, Ankle clonus, Dystoni... |
OMIM:618397 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Unsteady gait, Ataxia, Neurodegeneration |
OMIM:615919 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Cerebellar atrophy, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Secondary amen... |
OMIM:268020 |
Tibial Muscular Dystrophy |
|
Respiratory failure, Clumsiness |
ORPHA:609 |
Weaver Syndrome |
|
Bilateral tonic-clonic seizure, Slurred speech, Generalized non-motor (absence) seizure, Poor fin... |
OMIM:277590 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Primary amenorrhea, Azoospermia, Hypogonadism, Infertility, Decreased testicular size |
OMIM:229070 |
Xq28 (MECP2) duplication |
|
Gait ataxia, Seizure, Progressive spasticity, Dysphagia, Abnormal repetitive mannerisms |
DECIPHER:45 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Cerebral atrophy, Status epilepticus, Cerebellar vermis atrophy |
OMIM:615760 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Polyphagia, Seizure, Self-injurious behavior, Abnormal repetitive manneris... |
ORPHA:228402 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Developmental And Epileptic Encephalopathy 72 |
|
Inability to walk, Hyperkinetic movements |
OMIM:618374 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Seizure, Status epilepticus, Neurodegeneration, Spasticity, Neuronal loss in ... |
OMIM:616239 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Elevated circulating creatinine conc... |
OMIM:619111 |
Smith-Magenis Syndrome |
|
Hyperactivity, Impaired pain sensation, Self hugging, Head-banging, EEG abnormality, Seizure, Ony... |
OMIM:182290 |
Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis |
ORPHA:681 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Seizure, Gait disturbance, Spasticity |
ORPHA:100 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Hypertonia, Spasti... |
ORPHA:544503 |
Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Inability to walk, Babinski sign, Spastic tetraplegia, Seizure, Status epilep... |
OMIM:615663 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Hyperkinetic movements, Difficulty walking, Truncal ataxia |
ORPHA:369847 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Cryptorchidism, Secondary amenorrhea, Decreas... |
ORPHA:3085 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Progressive extrapyramidal movement disorder, Focal dystonia, C... |
ORPHA:199351 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Epileptic spasm, Dystonia, Infantile spasms, Hypsarrhythmia, Generalized hypotonia, Decreased bod... |
OMIM:607906 |
Spinocerebellar Ataxia Type 7 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Babinski sign, Dysmetria, Cerebral atrop... |
ORPHA:94147 |
Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Parkinsonism, Seizure, Dystonia,... |
OMIM:200150 |
Charcot-Marie-Tooth Disease Type 4C |
|
Cerebellar atrophy, Impaired pain sensation, Inability to walk, Impaired distal vibration sensati... |
ORPHA:99949 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo... |
ORPHA:204 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Writer's cramp, Fatigable weakness of distal limb muscles, Impaired vibration sensation in the lo... |
ORPHA:324442 |
47,Xyy Syndrome |
|
Male infertility, Macroorchidism, Cryptorchidism, Abnormal brainstem morphology, Oligozoospermia,... |
ORPHA:8 |
Sialidosis Type 2 |
|
Tremor, Seizure, Ataxia |
ORPHA:87876 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Severe muscular hypotonia, Ataxia, Infantile spasms, Poor motor coordination, Tremor, R... |
ORPHA:25 |
Niemann-Pick Disease, Type C1 |
|
Ataxia, Hypotonia, Gait ataxia, Seizure, Generalized hypotonia, Dystonia, Cataplexy, Spasticity |
OMIM:257220 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Axial hypotonia, Oculogyric crisis, Babinski sign, Lim... |
OMIM:608643 |
Joubert Syndrome 4 |
|
Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Molar tooth sign on MRI, Elongated supe... |
OMIM:609583 |
Alg3-Cdg |
|
Spastic tetraparesis, Hypoplasia of the pons, Hypotonia, Subcortical cerebral atrophy, Hypertonia... |
ORPHA:79321 |
Congenital Disorder Of Glycosylation, Type Id |
|
Cerebellar atrophy, Spastic tetraparesis, Cerebral atrophy, Seizure, Hypertonia |
OMIM:601110 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Frequent falls, Nocturnal hypoventilation, Respiratory failure |
OMIM:603689 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Epileptic spasm, Axial hypotonia, Vocal cord paralysis, Hypsarrhythmia, Seizure, Myoclonus, Dysto... |
ORPHA:500144 |
Riboflavin Transporter Deficiency |
|
Tremor, Seizure, Ataxia, Myoclonus |
ORPHA:97229 |
Rett Syndrome, Congenital Variant |
|
Chorea, Tongue thrusting, Bruxism, Athetosis, Seizure, EEG abnormality, Apraxia, Aspiration, Spas... |
OMIM:613454 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Axial hypotonia, Small for gestational age, Seizure, Status epilepticus, Generalized hypotonia, L... |
OMIM:618253 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Dysphagia |
ORPHA:352447 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Poor head control, Agenesis of cerebellar vermis, Hypoplasia of the pons, H... |
OMIM:613153 |
Pontocerebellar Hypoplasia, Type 17 |
|
Paroxysmal dystonia, Cerebellar vermis hypoplasia, Axial hypotonia, Hypoplasia of the pons, Spast... |
OMIM:619909 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Cerebellar vermis atrophy, Limb ataxia, Truncal ataxia |
OMIM:617101 |
Hemimegalencephaly |
|
Hemiparesis, Myoclonus, Abnormal neuron morphology |
ORPHA:99802 |
Alternating Hemiplegia Of Childhood |
|
Bilateral tonic-clonic seizure, Facial hypotonia, Ataxia, Tremor, Rigidity, Chorea, Episodic hemi... |
ORPHA:2131 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cerebral cortical atrophy, Spastic tetraparesis, Dystonia |
ORPHA:404451 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Impaired vibratory sensation, Impaired distal proprioception, Impaired pain sensation, Decreased ... |
ORPHA:101097 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Obses... |
OMIM:618825 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Rigidity, Slurred speech, Leg dystonia, Choreoathetosis, Seizure, Tip-toe... |
ORPHA:157850 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho... |
OMIM:617675 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Inability to ... |
ORPHA:101085 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Cerebellar atrophy, Partial absence of cerebellar vermis, Unsteady gait, Seizure, Cerebellar hypo... |
ORPHA:329224 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Seizure, Tip-toe gait, Gait ... |
ORPHA:512 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Inability to walk, Unsteady gait, Cerebral... |
OMIM:618443 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Aspi... |
ORPHA:646 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, Seizure, Pontoce... |
ORPHA:258 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Cerebellar atrophy, Ataxia, Involuntary movements, Inability to walk, Chorea, Hypotonia, Cerebral... |
OMIM:617804 |
Familial Cervical Artery Dissection |
|
Paresthesia, Paralysis |
ORPHA:36382 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Cerebellar hypoplasia |
OMIM:617562 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
Galloway-Mowat Syndrome 9 |
|
Choreoathetosis, Cerebellar atrophy, Cerebral cortical atrophy |
OMIM:619603 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Seizure, Abnormal repetitive mannerisms, Tetraparesis |
ORPHA:85277 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Seizure, Abnormal temper tantrums, Abnormal repetitive mannerisms, Upper m... |
ORPHA:530983 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Seizure, Neurodegeneration, Cerebellar hypoplasia, ... |
OMIM:214150 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Spasticity, Ataxia, Myoclonus |
OMIM:618225 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance |
ORPHA:83629 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Sensory ataxia, Distal sensory impairment, Gait ataxia... |
OMIM:614895 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Brain atrophy, Limb dystonia, Neuronal loss in c... |
OMIM:604377 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Seizure, Respirat... |
OMIM:220110 |
Birk-Landau-Perez Syndrome |
|
Axial hypotonia, Facial hypotonia, Failure to thrive in infancy, Limb ataxia, Choreoathetosis, Ap... |
OMIM:617595 |
Polyendocrine-Polyneuropathy Syndrome |
|
Cerebellar hypoplasia, Ataxia, Abnormal pyramidal sign, Dystonia |
ORPHA:453533 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Ataxia, Hypotonia, Seizure, Dystonia, Failure to thrive |
OMIM:616977 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Cerebellar atrophy, Progressive external ophthalmoplegia, Hypergonadotropic hypogonadism, Facial ... |
OMIM:615084 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment |
OMIM:604218 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Seizure, Positive ... |
OMIM:105210 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Gangliocytoma |
|
Decreased female libido, Distal muscle weakness, Abnormal cerebellum morphology, Abnormal brainst... |
ORPHA:251937 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Cerebellar hypoplasia, Dystonia |
OMIM:616113 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Inability to w... |
OMIM:617799 |
Laryngeal Abductor Paralysis |
|
Stridor, Vocal cord paralysis, Dysphagia |
OMIM:150260 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Hypoplasia of the pons, Hydrocephalus, Spastic paraplegia, Opisthotonus, Choreoathetosis,... |
OMIM:614969 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:617360 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Dilated fourth ventricle, Elevated hepatic transaminase, Cerebellar vermis hy... |
OMIM:212065 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Kinsship Syndrome |
|
Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ... |
OMIM:619297 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Ataxia, Head titubation, Hypoplasia of the pons, Dysmetria, Cerebellar hypopl... |
OMIM:619708 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxi... |
OMIM:620141 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Gene... |
ORPHA:369837 |
Thymic Carcinoma |
|
Fatigable weakness |
ORPHA:99868 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Elevated hepatic transaminase, Abnormal midbrain morphology, Spastic tetrapar... |
ORPHA:356961 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Seizure, Gait disturbance, Dystonia |
OMIM:617903 |
Glioblastoma |
|
Seizure, Paralysis |
ORPHA:360 |
Cog5-Cdg |
|
Cerebellar atrophy, Elevated hepatic transaminase, Diffuse cerebral atrophy, Cryptorchidism, Trun... |
ORPHA:263487 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
Developmental And Epileptic Encephalopathy 23 |
|
Hypoplasia of the pons, Myoclonus |
OMIM:615859 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
Microtriplication 11Q24.1 |
|
Retrocerebellar cyst, Hyperkinetic movements, Speech apraxia |
ORPHA:289522 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Aggressive behavior, Seizure, Self-injurious behavior, Skin-pi... |
OMIM:600430 |
Leukodystrophy, Progressive, Early Childhood-Onset |
|
Appendicular spasticity, Axial hypotonia, Cerebral atrophy, Dystonia |
OMIM:617762 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, Paraplegia, Restrict... |
ORPHA:98897 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Respiratory failure, Respiratory insufficiency |
OMIM:245400 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Ataxia, Paraplegia, Seizure, Agitation, Abnormal repetitive mannerisms |
ORPHA:927 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Decreased nerve conduction velocity, Vocal cord paralysis, Seizure, Dysphagia |
ORPHA:397744 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Abnormal posturing, Tachypnea |
OMIM:614857 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:234200 |
Short Stature-Micrognathia Syndrome |
|
Cerebellar atrophy, Seizure, Ataxia, Gait ataxia |
OMIM:617164 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Seizure, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Microcephaly, Amish Type |
|
Limb hypertonia, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Myoclonus |
OMIM:607196 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk,... |
OMIM:620066 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cerebellar atrophy, Cerebral atrophy, Seizure, Focal impaired awareness seizure, Limb hypertonia |
OMIM:620306 |
Macrocephaly-Developmental Delay Syndrome |
|
Recurrent pneumonia, Seizure, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with g... |
ORPHA:397612 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Axial hypotonia, Generalized dystonia, Clonus, Infantile spasms, Ataxia, Babinski sign, Opisthoto... |
OMIM:618076 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Broad-based gait, Small for gestational age, Failure to thrive in infancy, Poor coordination, Abn... |
OMIM:618891 |
Tyrosinemia Type 2 |
|
Tremor, Seizure, Ataxia |
ORPHA:28378 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Involuntary movements, Infantile spasms, Myoclonic seizure, Dysphagia, Spasticity, Abnormal repet... |
ORPHA:572013 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Spasticity, Respiratory failure, Opisthotonus |
OMIM:610678 |
Hijazi-Reis Syndrome |
|
Ankle clonus, Lower limb spasticity, Seizure, Abnormal repetitive mannerisms |
OMIM:301094 |
Argininemia |
|
Cerebellar atrophy, Seizure, Progressive spastic quadriplegia, Spastic paraparesis, Frequent fall... |
OMIM:207800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Tracheomalacia, Decreased motor nerve conduction velocity, Vocal cord paralysis, Respiratory insu... |
OMIM:615490 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Unst... |
ORPHA:354 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Babinski sign, Gait disturbance, Myoclonus, Apraxia, Abnormal upper motor neuron morphology, Spas... |
OMIM:221770 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Dysmetria |
OMIM:615578 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... |
ORPHA:459056 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Seizure, Compulsive behaviors, Spa... |
OMIM:618430 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Hypotonia, L... |
OMIM:248500 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Failure to thrive in infancy, Chorea, Hemiparesis, Seizure, Dystonia, Neonatal hypotonia |
OMIM:618829 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Seizure |
ORPHA:89844 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Axonal degeneration, Diaphragmatic paralysis, Hypotonia, Frequent falls, Craniofacial dystonia |
OMIM:620011 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Dysphagia, Stridor... |
ORPHA:142 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Seizure, Global brain atrophy |
OMIM:608776 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Babinski sign, Gait disturbance, Myoclonus, Apraxia |
OMIM:618193 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neonatal hypotonia, Spasticity |
OMIM:272200 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Hypotonia, Seizure, Generalized hypotonia, Dystonia |
OMIM:277410 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Seizure, Epileptic spasm, Spasticity |
ORPHA:485421 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Seizure, Typical absence seizure, Cerebellar hypoplasia, Cerebellar cyst |
OMIM:618343 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Head titubation, Babinski sign, Spastic diplegia, Ankle clonus, Spasticity, Craniofacial dystonia |
OMIM:619691 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Broad-based gait, Facial hypotonia, Severe muscular hypotonia, Atax... |
ORPHA:438216 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Tremor, Seizure, Cerebellar vermis atrophy, Gait ataxia |
OMIM:300354 |
Nipah Virus Disease |
|
Tremor, Seizure, Myoclonus |
ORPHA:99825 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level |
ORPHA:70578 |
Brody Disease |
|
Somatic sensory dysfunction, Fasciculations |
OMIM:601003 |
Neutral Lipid Storage Disease With Myopathy |
|
Fasciculations, Difficulty walking |
OMIM:610717 |
Sialidosis Type 1 |
|
Ataxia, Tremor, Slurred speech, Seizure, Gait disturbance, Myoclonus |
ORPHA:812 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dandy... |
ORPHA:163961 |
Arnold-Chiari Malformation Type I |
|
Somatic sensory dysfunction, Dysesthesia, Babinski sign, Vocal cord paralysis, Gait ataxia, Chiar... |
ORPHA:268882 |
Porphyria, Acute Intermittent |
|
Seizure, Respiratory paralysis, Paresthesia, Paralysis |
OMIM:176000 |
Developmental And Epileptic Encephalopathy 89 |
|
Cerebellar atrophy, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Cereb... |
OMIM:619124 |
Coach Syndrome 1 |
|
Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Hypotonia, Gen... |
OMIM:216360 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Quadriceps muscle weakness, Gait ataxia, Hypertonia, Ataxia, Facial palsy, External ophth... |
ORPHA:254892 |
Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Gait a... |
ORPHA:513456 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hypertonia, Gait disturbance, Hyperkinetic movements |
OMIM:236270 |
48,Xxyy Syndrome |
|
Ataxia, Apnea, Tremor, Asthma, Seizure, Attention deficit hyperactivity disorder, Abnormal repeti... |
ORPHA:10 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Clonus, Poor coordination, Spastic tetraplegia, Spastic diplegia, Gait ataxia, Cerebral a... |
OMIM:616878 |
Beta-Ureidopropionase Deficiency |
|
Hypotonia, Hypsarrhythmia, Seizure, Status epilepticus, Dystonia, Neonatal hypotonia |
OMIM:613161 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Gaucher Disease, Type Iii |
|
Ataxia, Myoclonus, Spastic paraparesis |
OMIM:231000 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Small for gestational age, Hypotonia, Seizure, Myoclonus, Dystonia |
OMIM:620167 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ... |
ORPHA:33543 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Cerebellar atrophy, Cerebral atrophy, Seizure, Hippocampal atrophy, Status epilepticus, Limb hype... |
OMIM:618922 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity disorder, Bruxism, Ab... |
OMIM:618342 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Aggressive behavior, Seizure, Self-injurious behavior, Hypertonia, Compulsive behaviors, ... |
OMIM:300986 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Apnea, Clonus, Respiratory failure, Hypertonia, Dysphagia |
OMIM:617301 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypotonia, Ankle clonus, Seizure, Falls, Difficulty walking, Dystonia |
OMIM:618222 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... |
ORPHA:449280 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough |
ORPHA:99931 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Ataxia, Postural tremor, Babinski sign, Seizure, Lower limb hypertonia, Statu... |
OMIM:301072 |
Supranuclear Palsy, Progressive, 1 |
|
Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granu... |
OMIM:601104 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-b... |
ORPHA:522077 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Impaired vibration sensation in the lower limbs, Clumsiness, Steppage gait, Fasciculations, Frequ... |
ORPHA:521411 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Cerebellar atrophy, Ataxia, Seizure, Dysdiadochokinesis, Intention tremor |
OMIM:612780 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Axial hypotonia, Spastic tetraparesis, Babinski sign, Hypotonia, Bradykinesia, Seizure, Dystonia,... |
OMIM:614924 |
Cadds |
|
Cerebellar atrophy, Dystonia |
ORPHA:369942 |
Myasthenia Gravis |
|
Fatigable weakness |
OMIM:254200 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Seizure, Progressive cerebell... |
OMIM:208900 |
Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia, Dysphagia |
OMIM:620249 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... |
OMIM:610921 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Oral-pharyngeal dysphagia, Seizure, EEG abnormality, Abnormal repetitive mannerisms |
OMIM:610883 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Generalized-onset seizure, Status epilepticus |
ORPHA:564178 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hypoplasia,... |
OMIM:615181 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Abnormal cerebellar cortex morpholo... |
ORPHA:70595 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Seizure, Respiratory failure |
ORPHA:1194 |
Lesch-Nyhan Syndrome |
|
Hypotonia, Opisthotonus, Choreoathetosis, Seizure, Abnormality of extrapyramidal motor function, ... |
OMIM:300322 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Dyst... |
ORPHA:411602 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Cerebellar atrophy, Elevated hepatic transaminase, Progressive external ophthalmoplegia, Facial p... |
OMIM:610131 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Bulbar palsy, Ataxia, Abnormal brainstem MRI signal intensity, Inability to walk, Ophthalmoplegia... |
ORPHA:254930 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Focal-onset seizure, Generalized-onset seizure, Status epilepticus, Paralysis |
ORPHA:83601 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ataxia, Hypotonia, Seizure, Myoclonus, Dystonia |
OMIM:619167 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Seizure, Respiratory failure, Tongue fasciculations, Myoclonus |
OMIM:614922 |
Sandestig-Stefanova Syndrome |
|
EEG abnormality, Respiratory failure |
OMIM:618804 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Poor coordination, Generalized non-motor (absence) seizure, Seizu... |
ORPHA:466943 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Cerebellar atrophy, Cryptorchidism, Patent ductus arteriosus, Cerebral atrophy |
OMIM:618659 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Rigidity, Generalized muscle weakness, Abnormal brainste... |
ORPHA:88619 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism |
ORPHA:178509 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Spasticity, Myoclonus |
OMIM:618201 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Olivopontocerebellar atrophy |
OMIM:146500 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dystonia |
OMIM:620358 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Dyspnea, Cardiorespiratory arrest, Seizure, Respiratory failure, Restrictive ventilatory defect, ... |
ORPHA:26791 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Fatigable weakness |
OMIM:159400 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Poor coordination, Poor fine motor coordination, Seizure, Att... |
OMIM:620242 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebellar atrophy, Ataxia, Hypotonia, Cerebral atrophy, Choreoathetosis, Dystonia |
OMIM:615471 |
Biotinidase Deficiency |
|
Seizure, Diffuse cerebral atrophy, Diffuse cerebellar atrophy, Ataxia |
OMIM:253260 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegen... |
OMIM:203700 |
Sneddon Syndrome |
|
Tremor, Seizure, Hemiplegia, Impaired distal tactile sensation |
OMIM:182410 |
Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Seizure, Gait disturbance, Oculomotor apraxia |
ORPHA:220497 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Respiratory insufficiency, Hypertonia, Paresthes... |
ORPHA:682 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Exaggerated startle response, Tonic seizure, Seizure, Hypertonia, Spasticity,... |
OMIM:618367 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebellar atrophy, Elevated hepatic transaminase, Patent ductus arteriosus, Cerebral atrophy, El... |
OMIM:614576 |
Early Myoclonic Encephalopathy |
|
Myoclonus |
ORPHA:1935 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Myoclonus, Intention tremor |
OMIM:610539 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Inability to walk, Fasciculations |
ORPHA:206546 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Focal-onset seizure, Ch... |
OMIM:619435 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis |
OMIM:620296 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Hemidystonia, Tremor, Obesity, Seizure, Neonatal hypotonia |
OMIM:619680 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Cerebellar atrophy, Elevated hepatic transaminase, Poor head control, Cerebellar hypoplasia, Elev... |
OMIM:618329 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Attention defic... |
OMIM:619121 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Involuntary movements, Hypoplasia of the pons, Hypoplasia of the br... |
OMIM:618325 |
Propionic Acidemia |
|
Axial hypotonia, Seizure, Dystonia, Failure to thrive, Limb hypertonia |
OMIM:606054 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Poor head control, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal pons mor... |
ORPHA:370997 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Obesity, Choreoathetosis, Seizure, Dystonia, Failure to thrive, Paroxysmal dyskin... |
ORPHA:261197 |
Glycine Encephalopathy 1 |
|
Myoclonus |
OMIM:605899 |
Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Seizure, Gait disturbance, Oculomotor apraxia |
ORPHA:475 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... |
OMIM:265120 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder, ... |
ORPHA:313892 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology |
ORPHA:280195 |
Wieacker-Wolff Syndrome |
|
Hypotonia, Seizure, Generalized hypotonia, Dystonia, Oculomotor apraxia, Spasticity, Apraxia |
OMIM:314580 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Unsteady gait, Hemiparesis, Midline brainstem cleft |
OMIM:617542 |
Mevalonic Aciduria |
|
Cerebellar atrophy, Agenesis of cerebellar vermis, Ataxia, Hypotonia, Cerebral atrophy, Progressi... |
OMIM:610377 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Cerebellar vermis hypoplasia, Inability to walk, Oculomotor apraxia,... |
ORPHA:300570 |
Joubert Syndrome 21 |
|
Ataxia, Apnea, Dyspnea, Seizure, Respiratory failure, Dysphagia, Oculomotor apraxia, Chronic sinu... |
OMIM:615636 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Chorea, Gait ataxia, Seizure,... |
ORPHA:255210 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
Pseudo-Torch Syndrome 1 |
|
Axial hypotonia, Hypotonia, Seizure, Dystonia, Spasticity, Failure to thrive |
OMIM:251290 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Broad-based gait, Dystonia, Ataxia, Hypotonia, Choreoathetosis, Generalized hypotonia, Difficulty... |
OMIM:610978 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Corpus callosum atrophy, Dystonic gait, Cerebral atrophy, Diffuse cerebellar atrophy, Limb hypert... |
ORPHA:480898 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C... |
ORPHA:244 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Ataxia, Spastic tetraparesis, Inability to walk, Myelopathy, Hoffmann sign... |
ORPHA:139396 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Somatic sensory dysfunction, Ataxia, Involuntary movements, Abnormal brainstem M... |
ORPHA:83597 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Craniosynostosis 6 |
|
Cerebellar atrophy, Hypotonia, Dandy-Walker malformation |
OMIM:616602 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Axial hypotonia, Parkinsonism, Oculogyric crisis, Tremor, Hypertonia |
ORPHA:1578 |
Mitochondrial Trifunctional Protein Deficiency |
|
Babinski sign, Respiratory insufficiency, Seizure, Respiratory failure, Frequent falls |
ORPHA:746 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Speech apraxia, Seizure, Abnormal repetitive mannerisms |
ORPHA:529965 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Decreased nerve conduction velocity, Distal sen... |
ORPHA:600 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Dyspnea, Respiratory insufficiency, Seizure, Resp... |
OMIM:610505 |
Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis, Dysphagia, Neonatal inspiratory stridor |
ORPHA:684 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Seizure, Respiratory failure, Focal impaired awareness seizu... |
OMIM:616482 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Rigidity, Hypotonia, Hypsarrhythmia, Seizure, Progressive spastic q... |
ORPHA:521426 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Cerebral atrophy, Seizure, Cerebellar hypoplasi... |
OMIM:618590 |
20Q11.2 Microdeletion Syndrome |
|
Brainstem dysplasia |
ORPHA:444051 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Generalized-onset seizure, Enlarged cerebellum, Brain atrophy |
ORPHA:85165 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Clonus, Tremor, Hypopnea, Seizure, Respiratory failure, Hypertonia, Dysphagia, Respiratory... |
OMIM:617248 |
Classic Phenylketonuria |
|
Tremor, Paraplegia, Seizure, Hypertonia, Hemiplegia |
ORPHA:79254 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
Leukodystrophy, Hypomyelinating, 10 |
|
Inability to walk, Spasticity, Babinski sign, Hyperkinetic movements |
OMIM:616420 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Cerebellar atrophy, Seizure, Cerebral atrophy |
OMIM:616266 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity... |
ORPHA:67036 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis... |
ORPHA:502423 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesi... |
ORPHA:309854 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Hypertonia, Cerebellar vermis hypoplasia, Myoclonus, Spastic tetraparesis |
ORPHA:284417 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spastic diplegia, Gait disturba... |
OMIM:300966 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Ataxia |
OMIM:610651 |
Mcleod Syndrome |
|
Generalized-onset seizure, Chorea, Seizure, Dystonia, Impaired vibration sensation at ankles |
OMIM:300842 |
Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
4Q21 Microdeletion Syndrome |
|
Tremor, Seizure, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:238750 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Abnormal cerebellar peduncle mor... |
ORPHA:909 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Somatic sensory dysfunction, Fasciculations |
ORPHA:99965 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Seizure, Hyper... |
ORPHA:268261 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Tremor, Seizure, Ataxia |
ORPHA:79095 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Seizure, Respiratory failure |
OMIM:614862 |
Dilated Cardiomyopathy With Ataxia |
|
Lower limb spasticity, Ataxia, Seizure, Dystonia, Neonatal hypotonia, Action tremor |
ORPHA:66634 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Ataxia |
ORPHA:713 |
Supranuclear Palsy, Progressive, 2 |
|
Axial dystonia, Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola... |
OMIM:609454 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Ataxia, Tremor, Seizure, Gait imbalance, Myoclonus |
ORPHA:98794 |
Coffin-Siris Syndrome 6 |
|
Seizure, Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
Hermansky-Pudlak Syndrome 10 |
|
Axial hypotonia, Bilateral tonic-clonic seizure, EEG abnormality, Generalized hypotonia, Dystonia... |
OMIM:617050 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Self-biting, Seizure, Abnormal repetitive mannerisms |
ORPHA:3306 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Fasciculations, U... |
ORPHA:52430 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Ab... |
OMIM:616393 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Aggressive behavior, Tremor, Seizure, Self-injurious behavior, Compulsive beh... |
OMIM:617061 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia |
ORPHA:1020 |
Alazami Syndrome |
|
Abnormal eating behavior, Seizure, Abnormal repetitive mannerisms, Self-mutilation, Stereotypical... |
ORPHA:319671 |
Abeta Amyloidosis, Iowa Type |
|
Gait disturbance, Myoclonus |
ORPHA:324708 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Fatigable weakness |
ORPHA:257 |
Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Seizure, Gait disturbance, Oculomotor apraxia |
ORPHA:220493 |
Aicardi-Goutieres Syndrome 1 |
|
Axial hypotonia, Cerebellar calcifications, Inability to walk, Cerebral atrophy, Abnormality of e... |
OMIM:225750 |
Peho Syndrome |
|
Cerebellar atrophy, Infantile spasms, Seizure, Atrophy/Degeneration affecting the brainstem, Cere... |
ORPHA:2836 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Hypoplasia of... |
OMIM:610688 |
Vacterl Association With Hydrocephalus |
|
Respiratory failure, Respiratory insufficiency |
OMIM:276950 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
Galloway-Mowat Syndrome 1 |
|
Cerebellar atrophy, Axial hypotonia, Ataxia, Hypotonia, Spastic tetraplegia, Cerebral atrophy, Dy... |
OMIM:251300 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Epileptic spasm, Hyperactivity, Infantile spasms, Aggressive behavior, Impu... |
ORPHA:805 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Hypertonia, Myoclonus |
OMIM:617290 |
Aicardi-Goutieres Syndrome 9 |
|
Axial hypotonia, Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Weight loss, Seizur... |
OMIM:619487 |
5Q14.3 Microdeletion Syndrome |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:228384 |
Inhalational Botulism |
|
Dyspnea, Paralysis |
ORPHA:254504 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Hypertyrosinemia, Elevated hepatic transaminase, Ataxia, Cerebral atrophy, Am... |
OMIM:124000 |
Pilarowski-Bjornsson Syndrome |
|
Speech apraxia, Seizure, Abnormal repetitive mannerisms |
OMIM:617682 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Seizure, Abnormal repetitive mannerisms |
OMIM:613443 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Seizure, Spasticity, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Cerebellar vermis hypoplasia, Facial-lingual fasciculations, Hydroc... |
OMIM:617281 |
Joubert Syndrome 1 |
|
Hemifacial spasm, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem dysplasi... |
OMIM:213300 |
Riddle Syndrome |
|
Ataxia, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Clumsiness, Restrictive ventilatory de... |
ORPHA:420741 |
Young-Onset Parkinson Disease |
|
Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity |
ORPHA:2828 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Recurrent pneumonia, Seizure, Tracheobronchomalacia, Abnormal repetitive mannerisms |
OMIM:617751 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Slc39A8-Cdg |
|
Severe muscular hypotonia, Failure to thrive in infancy, Inability to walk, Hypsarrhythmia, Seizu... |
ORPHA:468699 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal respiratory distress, Apnea, Respiratory insufficiency, Seizure, Respiratory failure |
OMIM:608836 |
Joubert Syndrome 7 |
|
Ataxia, Brainstem dysplasia, Oculomotor apraxia, Hypoplasia of the brainstem, Molar tooth sign on... |
OMIM:611560 |
D-Glyceric Aciduria |
|
Chorea, Myoclonus, Spasticity |
ORPHA:941 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Asthma, Clumsiness, Seizure, Compulsive behaviors, Attention deficit hyperactivity disord... |
OMIM:615656 |
Chédiak-Higashi Syndrome |
|
Cerebellar atrophy, Elevated hepatic transaminase, Somatic sensory dysfunction, Ataxia, Parkinson... |
ORPHA:167 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Cerebellar atrophy, Cerebral cortical atrophy, Cerebellar hypoplasia |
OMIM:617763 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Reduced vital capacity, Decreased distal sensory nerve action potential, Tremor, Vocal cord paral... |
ORPHA:99956 |
Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblo... |
ORPHA:297 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Tremor, Respiratory insufficiency due to muscle weakness, Respiratory insuf... |
OMIM:615512 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Hypertonia, Cerebellar hypoplasia, Myoclonus, Spasticity, Dandy-Walker ... |
ORPHA:3078 |
Congenital Myopathy 15 |
|
Reduced forced vital capacity, Vocal cord paralysis |
OMIM:620161 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Speech apraxia, Cerebellar atrophy, Pain insensitivity, Axial hypotonia, Ataxia, Broad-based gait... |
OMIM:617330 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Childhood Disintegrative Disorder |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:168782 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Hypertonia, Abnormal brainstem morphology, Ataxia |
ORPHA:2720 |
Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure |
OMIM:619334 |
Gitelman Syndrome |
|
Salt craving, Ataxia, Paralysis, Seizure, Paresthesia, Polydipsia |
OMIM:263800 |
Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Cryptorchidism, Hypoplasia of the brainstem, Muscle weakness |
OMIM:193700 |
Snijders Blok-Campeau Syndrome |
|
Speech apraxia, Infantile spasms, Myoclonic seizure, Attention deficit hyperactivity disorder, Ab... |
OMIM:618205 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Dysphagia |
ORPHA:171430 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vocal cord paralysis |
OMIM:601650 |
White-Sutton Syndrome |
|
Cerebellar atrophy, Incoordination, Hypoplasia of the pons, Seizure, Subcortical cerebral atrophy... |
ORPHA:468678 |
Juvenile Sialidosis Type 2 |
|
Lower limb spasticity, Ataxia, Dysmetria, Myoclonus, Loss of ambulation, Spasticity |
ORPHA:93399 |
Osteopetrosis, Autosomal Recessive 5 |
|
Generalized-onset seizure, Clonus, Spastic tetraplegia, Seizure, Respiratory failure, Hypertonia,... |
OMIM:259720 |
Filippi Syndrome |
|
Hypotonia, Paraplegia, Seizure, Limb dystonia, Spasticity |
ORPHA:3255 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
Wolfram Syndrome 1 |
|
Tremor, Seizure, Ataxia |
OMIM:222300 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Abnormal temper tantrums, A... |
ORPHA:449291 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Oculogyric crisis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign... |
ORPHA:306674 |
Abetalipoproteinemia |
|
Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Babinski sign, Impaired pro... |
ORPHA:14 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, H... |
ORPHA:447997 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Respiratory failure, Pneumonia |
ORPHA:98905 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremor, Unsteady gait, A... |
OMIM:614947 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Seizure, Attention deficit hyperactivity disord... |
OMIM:619312 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Hypertonia, Abnormal r... |
OMIM:618914 |
Nmda Receptor Encephalitis |
|
Generalized-onset seizure, Oculogyric crisis, Involuntary movements, Rigidity, Focal-onset seizur... |
ORPHA:217253 |
Takenouchi-Kosaki Syndrome |
|
Cerebellar atrophy, Ataxia, Seizure, Cerebellar hypoplasia, Cerebral cortical atrophy |
OMIM:616737 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Babinski sign, Fasciculations |
OMIM:619733 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal cerebellum morphology, Ataxia, Generalized non-motor (absence) seizure, Apraxia |
ORPHA:77293 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
Malignant Atrophic Papulosis |
|
Pain insensitivity, Seizure, Pleural effusion, Respiratory failure |
ORPHA:679 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Cerebellar atrophy, Generalized hypotonia |
OMIM:618541 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Cerebellar vermis hypoplasia, Babinski sign, Retrocerebellar cyst, Myoclonus,... |
ORPHA:364028 |
Cri-Du-Chat Syndrome |
|
Hyperactivity, Aggressive behavior, Abnormal respiratory system physiology, Hypertonia, Abnormal ... |
OMIM:123450 |
Hyperlysinemia |
|
Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Simple febrile seizure, Tremor, S... |
ORPHA:2203 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Pain insensitivity, Broad-based gait, Bilateral tonic-clonic seizure, Cerebellar vermis hypoplasi... |
OMIM:620330 |
Joubert Syndrome 2 |
|
Agenesis of cerebellar vermis, Ataxia, Brainstem dysplasia, Oculomotor apraxia, Hypoplasia of the... |
OMIM:608091 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure |
ORPHA:3226 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Elevated circulating aspartate aminotransferase concentration, Cryptorchidism... |
OMIM:614866 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Tremor, Hypotonia, Cerebral atrophy, Choreoathetosis, Generalized hypotonia, ... |
OMIM:614080 |
Pyruvate Carboxylase Deficiency |
|
Ataxia, Infantile spasms, Generalized clonic seizure, Tremor, Abnormal pyramidal sign, Hypotonia,... |
ORPHA:3008 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Impaired temperature sensation, Fasciculations, Spasticity,... |
OMIM:268800 |
Neuraminidase Deficiency |
|
Slurred speech, Myoclonus, Dysmetria |
OMIM:256550 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration... |
OMIM:607459 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614618 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Apraxia, Cerebellar ve... |
OMIM:616541 |
Full Schwannomatosis |
|
Hypoesthesia, Paresthesia, Fasciculations |
ORPHA:93921 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure |
ORPHA:466950 |
Hydroxykynureninuria |
|
Hypertonia, Abnormal repetitive mannerisms, Breathing dysregulation |
ORPHA:79155 |
Schindler Disease, Type I |
|
Spasticity, Myoclonus |
OMIM:609241 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Ataxia, Bilateral tonic-clonic seizure, Apnea, Babinski sign, Respiratory insufficiency, Respirat... |
OMIM:252010 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Apraxia, ... |
OMIM:607485 |
Multifocal Motor Neuropathy |
|
Fasciculations |
ORPHA:641 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism |
OMIM:616351 |
Benign Samaritan Congenital Myopathy |
|
Fasciculations |
ORPHA:324581 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Vocal cord paresis, Positive Romberg sign, Distal sens... |
OMIM:601152 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Seizure, Ataxia, Dysmetria |
OMIM:616263 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Seizure, Tracheobronchomalacia, Recurrent pneumonia, Abnormal repetitive mannerisms |
ORPHA:500159 |
Megalocornea-Intellectual Disability Syndrome |
|
Seizure, Abnormal repetitive mannerisms, Ataxia, EEG abnormality |
ORPHA:2479 |
Hyperekplexia 1 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls |
OMIM:149400 |
Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis |
OMIM:612300 |
Choreoacanthocytosis |
|
Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decreased amplitude of... |
ORPHA:2388 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Hypoplasia of the pons, Cerebral atrophy, Cerebellar atrophy, Generalized hypotonia |
OMIM:616430 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Tremor, Fasciculations, Difficulty walking, Frequent falls |
ORPHA:329478 |
Lipoid Proteinosis |
|
Seizure, Dystonia |
ORPHA:530 |
Boutonneuse Fever |
|
Respiratory failure |
ORPHA:83313 |
Smith-Magenis Syndrome |
|
Impaired pain sensation, EEG abnormality, Seizure, Self-injurious behavior, Attention deficit hyp... |
ORPHA:819 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, D... |
OMIM:612199 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Pain insensitivity, Broad-based gait, Ataxia, Hypotonia, Distal sensory impairment, Painless frac... |
OMIM:256810 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:293978 |
Alkuraya-Kucinskas Syndrome |
|
Hypoplasia of the brainstem, Kinked brainstem, Cerebellar hypoplasia, Oculomotor apraxia, Dandy-W... |
OMIM:617822 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Incoordination, Impaired pain sensation, Gait ataxia, Abnormal repetitive mannerisms, Overfriendl... |
OMIM:616579 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Recurrent pneumonia, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive manne... |
OMIM:619293 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Inability to walk, Broad-based gait, Myoclonus |
OMIM:616158 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Tremor, Gait ataxia, Seizure, Compulsive behaviors, Attention deficit hypera... |
ORPHA:476126 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Seizure, Hypertonia, Hemiplegia, Pulmonary arteria... |
ORPHA:2396 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Clonic seizure, Hypertonia, Decreased body weight, Intention tremor, Ataxia, Overweight, ... |
OMIM:619475 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Epileptic spasm, Rigidity, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Status e... |
ORPHA:2636 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Seizure |
OMIM:619103 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal fear-induced behavior, Agitation, Restlessness, Depression |
ORPHA:100924 |
Myopathy, Myofibrillar, 2 |
|
Fasciculations |
OMIM:608810 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Cryptorchidism, Cerebral atrophy, Brain atrophy |
OMIM:611209 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
Chromosome 5P13 Duplication Syndrome |
|
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors |
OMIM:613174 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Pica, Seizure, Obsessive-compulsive trait, Abnormal repetitive mannerisms |
OMIM:617796 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... |
ORPHA:31204 |
Congenital Sialidosis Type 2 |
|
Ataxia, Hydrocephalus, Dysmetria, Myoclonus, Spasticity |
ORPHA:93400 |
Joubert Syndrome With Hepatic Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia of the cerebellum, Tremor, Seizure, Gait... |
ORPHA:1454 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Fasciculations |
ORPHA:1143 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Seizure, Abnormality of extrapyramidal motor function, Dystonia |
ORPHA:79233 |
Listeriosis |
|
Respiratory distress, Somatic sensory dysfunction, Ataxia, Pneumonia, Tremor, Hemiparesis, Seizur... |
ORPHA:533 |
Pyridoxal Phosphate-Responsive Seizures |
|
Unsteady gait, Hypertonia, Myoclonus |
ORPHA:79096 |
Ethylmalonic Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Ataxia, Abnormal pyramidal sign, Abnormality of extrapyr... |
ORPHA:51188 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Neonatal respiratory distress, Impaired pain sensation, EEG abnormality, Seizure, Attention defic... |
OMIM:619005 |
Fucosidosis |
|
Spastic tetraplegia, Hypotonia, Seizure, Dystonia, Hemiplegia, Failure to thrive, Spastic gait |
OMIM:230000 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Myoclonus |
ORPHA:289266 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Inability to walk, Seizure, Typical absence seizure, Impaired pain sensation |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Inability to walk, Seizure, Typical absence seizure, Impaired pain sensation |
ORPHA:352665 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Cerebellar atrophy, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elev... |
OMIM:608779 |
Developmental And Epileptic Encephalopathy 101 |
|
Myoclonus, Opisthotonus |
OMIM:619814 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Myoclonus |
OMIM:560000 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis |
OMIM:188580 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Cerebellar atrophy, Seizure, Cerebral cortical atrophy, Gait ataxia |
OMIM:617011 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Spastic tetraparesis, Hypotonia, Tetr... |
OMIM:615846 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Ataxia, Inability to walk, Hypotonia, Seizure, Dystonia, Failure to thrive |
OMIM:620083 |
Fatal Familial Insomnia |
|
Ataxia, Myoclonus |
OMIM:600072 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Tachypnea, Respiratory insufficiency, Tetraplegia, Seizure, Respiratory failure, Myoclonus |
OMIM:618278 |
22Q11.2 Duplication Syndrome |
|
Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive beh... |
ORPHA:1727 |
Rheumatic Fever |
|
Hemiballismus, Chorea, Gait disturbance, Fasciculations |
ORPHA:3099 |
Glossopharyngeal Neuralgia |
|
Dysesthesia, Seizure, Vocal cord paralysis, Oral-pharyngeal dysphagia |
ORPHA:221098 |
Coffin-Siris Syndrome 7 |
|
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors |
OMIM:618027 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Hypotonia, Dystonia |
OMIM:614105 |
Paget Disease Of Bone 2, Early-Onset |
|
Paraparesis, Brain stem compression, Elevated circulating alkaline phosphatase concentration, Tet... |
OMIM:602080 |
Galloway-Mowat Syndrome 3 |
|
Cerebellar atrophy, Seizure, Spasticity, Cerebral atrophy |
OMIM:617729 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Respiratory failure, Chylothorax, Dysphagia |
OMIM:620278 |
Thyrotoxic Periodic Paralysis |
|
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis, Abnormality ... |
ORPHA:79102 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Diffuse cerebral atrophy, Abnormality of extrapyramidal motor funct... |
ORPHA:79255 |
Amyotrophy, Monomelic |
|
Fasciculations |
OMIM:602440 |
Alpha-Mannosidosis, Infantile Form |
|
Cerebellar atrophy, Facial hypotonia, Ataxia, Spastic paraplegia, Hypotonia, Clumsiness, Subcorti... |
ORPHA:309282 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Seizure, Periodic paralysis |
ORPHA:37553 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Dystonia, Unsteady gait, Choreoathetosis, Seizure, Hypertonia, Hyperkinetic movements, Myoclonus,... |
ORPHA:17 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Abnormal repetitive manne... |
OMIM:620073 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure |
ORPHA:88618 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Abnormal pyramidal s... |
ORPHA:468631 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Involuntary movements, Clonus, Opisthotonus, Myoclonus |
OMIM:620352 |
Vici Syndrome |
|
Seizure, Abnormal posturing, Dysphagia |
OMIM:242840 |
Meningioma |
|
Hemifacial spasm, Abnormal central motor function, Hypogonadotropic hypogonadism, Ataxia, Facial ... |
ORPHA:2495 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea |
ORPHA:555874 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Cerebellar atrophy, Tremor, Partial absence of cerebellar vermis, Patent ductus arteriosus, Gener... |
ORPHA:280633 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Rigidity, Myoclonus |
OMIM:300673 |
Pediatric-Onset Graves Disease |
|
Tremor, Hyperkinetic movements |
ORPHA:525731 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lower limb spasticity, Hypsarrhythmia, Respiratory failure, Upper limb spasticity, Generalized my... |
OMIM:300868 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology,... |
ORPHA:68 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Bilateral tonic-clonic seizure with generalized onset, Generali... |
ORPHA:2072 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Seizure, Abnormal temper tantrums, Abnormal repetitive mannerisms |
ORPHA:457279 |
Kleefstra Syndrome 1 |
|
Aggressive behavior, Seizure, Compulsive behaviors, Tracheobronchomalacia, Abnormal repetitive ma... |
OMIM:610253 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Neonatal hypotonia, Seizure, Dystonia |
ORPHA:457193 |
Orofaciodigital Syndrome Type 3 |
|
Cerebellar vermis hypoplasia, Myoclonus, Oculomotor apraxia, Spasticity, Dandy-Walker malformation |
ORPHA:2752 |
Trichothiodystrophy |
|
Generalized-onset seizure, Abnormal pyramidal sign, Gait ataxia, Hypertonia, Intention tremor, Sp... |
ORPHA:33364 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Spasticity, Myoclonus, Tetraparesis |
OMIM:618972 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Tremor, Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:612474 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Myoclonus, Spasticity |
ORPHA:309155 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure, Chiari malformation, Cerebell... |
ORPHA:500150 |
Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements, ... |
OMIM:615273 |
Familial Cerebral Saccular Aneurysm |
|
Hemiparesis, Oculomotor nerve palsy, Abnormal brainstem morphology |
ORPHA:231160 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hypercapnia, Respiratory insufficiency due to muscle weakness, Dysphagia, Hypoxemia, Respiratory ... |
ORPHA:2020 |
Pitt-Hopkins Syndrome |
|
Incoordination, Intermittent hyperventilation, Gait ataxia, Seizure, Self-injurious behavior, Abn... |
OMIM:610954 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Aggressive behavior, Seizure, Hypertonia, Abnormal repetitive mannerisms, Self-mutilation, Stereo... |
OMIM:212066 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest |
ORPHA:3342 |
Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Hypogonadotropic hypogonadism, Shyness, Unilateral vocal cord paralysis, Cere... |
OMIM:301030 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Ataxia, Tremor, Cryptorchidism, Irregular menstruation, Cerebral atrophy, Hyp... |
OMIM:216400 |
Helsmoortel-Van Der Aa Syndrome |
|
Seizure, Typical absence seizure, Tonic seizure |
OMIM:615873 |
Blepharonasofacial Malformation Syndrome |
|
Torsion dystonia |
ORPHA:1252 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... |
ORPHA:365 |
Wilson Disease |
|
Dystonia, Poor motor coordination, Tremor, Rigidity, Hypoesthesia, Decreased nerve conduction vel... |
OMIM:277900 |
2Q37 Microdeletion Syndrome |
|
Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Tracheomalacia, Abnormal... |
ORPHA:1001 |
Rift Valley Fever |
|
Anorexia, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity |
ORPHA:319251 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Lower limb spasticity, Axial hypotonia, Dystonia, Ataxia, Cerebral palsy, Focal-onset seizure, Sp... |
OMIM:619950 |
Lathosterolosis |
|
Seizure, Chiari malformation, Myoclonus, Cerebellar cortical atrophy |
ORPHA:46059 |
D-Glyceric Aciduria |
|
Spastic tetraplegia, Spasticity, Myoclonus, Opisthotonus |
OMIM:220120 |
Phelan-Mcdermid Syndrome |
|
Impaired pain sensation, Aggressive behavior, Tongue thrusting, Seizure, Bruxism, Abnormal repeti... |
OMIM:606232 |
Cockayne Syndrome |
|
Cerebellar atrophy, Elevated hepatic transaminase, Somatic sensory dysfunction, Ataxia, Action tr... |
ORPHA:191 |
White-Sutton Syndrome |
|
Hyperactivity, Aggressive behavior, Hypoglycemic seizures, Self-injurious behavior, Focal impaire... |
OMIM:616364 |
Mucopolysaccharidosis, Type Iiid |
|
Cerebellar atrophy, Seizure, Difficulty walking |
OMIM:252940 |
Aicardi-Goutières Syndrome |
|
Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Tremor, Hemiplegia/hemiparesis, Abno... |
ORPHA:51 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Seizure, Corpus callosum atrophy, Bilateral tonic-clonic seizure |
OMIM:261515 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Facial hypotonia, Tremor, Hypotonia, Tip-toe gait, Dystonia |
OMIM:617557 |
Non-Functioning Paraganglioma |
|
Tremor, Vocal cord paralysis |
ORPHA:94080 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:261144 |
Monosomy 18P |
|
Generalized dystonia, Hypotonia |
ORPHA:1598 |
Sialuria |
|
Hyperkinetic movements |
ORPHA:3166 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Cerebellar atrophy |
OMIM:620133 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, Cough, Pleur... |
ORPHA:340 |
Cystinosis |
|
Abnormal repetitive mannerisms, Polydipsia, Abnormal pyramidal sign |
ORPHA:213 |
Kleefstra Syndrome |
|
Aggressive behavior, Dyspnea, Seizure, Self-injurious behavior, Tracheomalacia, Abnormal repetiti... |
ORPHA:261494 |
Sotos Syndrome |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tremor, Poor coordination, Generali... |
ORPHA:821 |
Dpagt1-Cdg |
|
Epileptic spasm, Ataxia, Akinesia, Tremor, Inability to walk, Abnormal cerebellum morphology, Foc... |
ORPHA:86309 |
Whipple Disease |
|
Hydrocephalus, Abnormal pyramidal sign, Myoclonus, Ataxia |
ORPHA:3452 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
Full Nf2-Related Schwannomatosis |
|
Somatic sensory dysfunction, Facial palsy, Abnormal cerebellum morphology, Unsteady gait, Hemipar... |
ORPHA:637 |
Mogs-Cdg |
|
Seizure, Dystonia, Absent brainstem auditory responses, Infantile muscular hypotonia |
ORPHA:79330 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Partial absence of cerebellar vermis, Bilateral tonic-clonic seizure, Dandy-W... |
OMIM:619895 |
Myhre Syndrome |
|
Seizure, Respiratory failure, Ataxia, Respiratory insufficiency |
OMIM:139210 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Cryptorchidism, Hypoplasia of the brainstem... |
ORPHA:444072 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Myoclonus |
OMIM:256700 |
Immunodeficiency 23 |
|
Somatic sensory dysfunction, Ataxia, Myoclonus, Cortical myoclonus |
OMIM:615816 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Focal-onset seizure, Typical absence seizure, Atonic seizure |
OMIM:617157 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Seizure, Respiratory failure |
OMIM:618252 |
Serotonin Syndrome |
|
Clonus, Tremor, Rigidity, Hypertonia, Myoclonus |
ORPHA:43116 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Respiratory insufficiency, Seizure, Respiratory failure, Cough, Emphysema |
OMIM:613658 |
Knobloch Syndrome 1 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Myoclonic seizure, Seizure |
OMIM:267750 |
Chromosome 18P Deletion Syndrome |
|
Small for gestational age, Hypotonia, Dystonia |
OMIM:146390 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Spasticity, Myoclonus |
OMIM:612949 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Spastic tetraparesis, Inability to walk, Cryptorchidism, Patent ductus arteriosus, Cerebellar ver... |
ORPHA:495818 |
Gitelman Syndrome |
|
Respiratory distress, Salt craving, Paralysis, Focal-onset seizure, Paresthesia, Polydipsia |
ORPHA:358 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cryptorchidism, Hypoplasia of the brainstem, Cerebellar hypoplasia, Kinked brainstem, Cerebellar ... |
OMIM:236670 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure |
ORPHA:254528 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Myoclonus |
ORPHA:168593 |
Postpoliomyelitis Syndrome |
|
Fasciculations |
ORPHA:2942 |
African Trypanosomiasis |
|
Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Paralysis, T... |
ORPHA:3385 |
Lethal Acantholytic Erosive Disorder |
|
Respiratory failure |
ORPHA:158687 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Generalized dystonia |
ORPHA:79107 |
Microcephaly-Capillary Malformation Syndrome |
|
Myoclonus, Spastic tetraparesis |
OMIM:614261 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Generalized-onset seizure, Ataxia, Small for gestational age, Tremor, Hypotonia, Dysmetria, Trunc... |
OMIM:220111 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Oculomotor apraxia, Ataxia, Myoclonus, Gait disturbance |
ORPHA:247262 |
Bainbridge-Ropers Syndrome |
|
Seizure, Self-injurious behavior, Hypertonia, Recurrent hand flapping, Abnormal repetitive manner... |
OMIM:615485 |
Bloom Syndrome |
|
Rhinitis, Chronic pulmonary obstruction, Pneumonia, Respiratory failure |
ORPHA:125 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens... |
ORPHA:261537 |
Distal Renal Tubular Acidosis |
|
Respiratory insufficiency due to muscle weakness, Polydipsia, Paralysis |
ORPHA:18 |
Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Oral-pharyngeal dysphagia, Respiratory insuff... |
ORPHA:273 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Seizure, Respiratory failure |
ORPHA:79404 |
7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Aggressive behavior, Polyphagia, Dysmetria, Seizure, Self-injurious... |
ORPHA:96121 |
Mowat-Wilson Syndrome |
|
Broad-based gait, Agenesis of cerebellar vermis, Ataxia, Cerebellar vermis hypoplasia, Impaired p... |
ORPHA:2152 |
Carpenter Syndrome 2 |
|
Generalized non-motor (absence) seizure |
OMIM:614976 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Respiratory insufficiency due to muscle weakness, Vocal cord paralysis |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Respiratory insufficiency due to muscle weakness, Vocal cord paralysis |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Respiratory insufficiency due to muscle weakness, Vocal cord paralysis |
ORPHA:98853 |
Arima Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem ... |
OMIM:243910 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Spasticity, Myoclonus |
OMIM:246450 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Periodic hypokalemic paresis, Periodic paralysis |
OMIM:170390 |
Scorpion Envenomation |
|
Hemifacial spasm, Ataxia, Tremor, Hyperkinetic movements, Paresthesia, Myoclonus |
ORPHA:466677 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Multifocal seizures, Aggressive behavior, EEG with central focal ... |
OMIM:301066 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Head-banging, Seizure, Compulsive behaviors, Attention deficit hyperactivit... |
ORPHA:177907 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Spastic tetraparesis, Foca... |
OMIM:301044 |
Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
ORPHA:488618 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Cryptorchidism, Patent ductus arteriosus, Abnormal brainstem morphology, Gait disturbance, Cerebr... |
ORPHA:464311 |
Alg9-Cdg |
|
Cerebellar atrophy, Lower limb spasticity, Torticollis, Hypotonia, Cerebral atrophy |
ORPHA:79328 |
Opsoclonus-Myoclonus Syndrome |
|
Rigidity, Limb myoclonus, Ataxia, Myoclonus |
ORPHA:1183 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Spastic tetraplegia, Myoclonus |
OMIM:614462 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Generalized-onset seizure, Recurrent pneumonia, Opisthotonus, Seizure, Hypertonia, Abnormal repet... |
ORPHA:508533 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Limb dystonia, Cerebellar atrophy, Babinski sign, Hemiparesis, Tetraparesis, Dystonia, Hemiplegia... |
OMIM:175780 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized myoclonic... |
OMIM:614756 |
Nijmegen Breakage Syndrome |
|
Respiratory failure, Recurrent pneumonia, Attention deficit hyperactivity disorder |
ORPHA:647 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Seizure, Respiratory failure, Status epilepticus |
ORPHA:2556 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Head-banging, Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder, Frequen... |
OMIM:619575 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens... |
ORPHA:261552 |
Arthrogryposis Multiplex Congenita 5 |
|
Akinesia, Hand tremor, Hypertonia, Generalized hypotonia, Dystonia |
OMIM:618947 |
Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... |
ORPHA:892 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Cerebellar vermis atrophy, Hypotonia, Dandy-Walker malformation |
OMIM:156610 |
Pontocerebellar Hypoplasia Type 7 |
|
Involuntary movements, Olivopontocerebellar hypoplasia, Fatigable weakness of skeletal muscles, H... |
ORPHA:284339 |
Rauch-Steindl Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619695 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, Ataxia, Spastic tetraplegia, Distal sensory impairment, Myoclonus, Spastic parapares... |
OMIM:609136 |
Holoprosencephaly |
|
Chorea, Hypotonia, Dystonia, Aplasia/Hypoplasia of the cerebellum, Spasticity, Dandy-Walker malfo... |
ORPHA:2162 |
Fabry Disease |
|
Paresthesia, Fasciculations |
OMIM:301500 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Cerebellar atrophy, Seizure, Dandy-Walker malformation, Cerebellar dysplasia |
ORPHA:487796 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
Pineoblastoma |
|
Seizure, Paralysis |
ORPHA:251909 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Abnormal repetitive mannerisms, Seizure, Spasticity, Bilateral tonic-clonic seizure |
OMIM:301040 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Self-injurious b... |
OMIM:619512 |
Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Decreased nerve conduction velocity, Upper airwa... |
ORPHA:580 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Spasticity, Ataxia, Myoclonus, Spastic hemiparesis |
ORPHA:20 |
Semilobar Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Inability to walk, Oromotor apraxia, Seizure, Inf... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Inability to walk, Oromotor apraxia, Seizure, Inf... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Inability to walk, Oromotor apraxia, Seizure, Inf... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Inability to walk, Oromotor apraxia, Seizure, Inf... |
ORPHA:93924 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Pain insensitivity, Myoclonus |
ORPHA:251004 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Recurrent pneumonia, Respiratory failure, Polydipsia |
ORPHA:731 |
9P13 Microdeletion Syndrome |
|
Myoclonus, Hand tremor |
ORPHA:324313 |
Orofaciodigital Syndrome Type 1 |
|
Tremor, Seizure, Ataxia, Dystonia |
ORPHA:2750 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Seizure, Respiratory failure, Pulmonary arterial hypertension, Restrictive ventilatory defect |
ORPHA:96334 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Epileptic spasm, Exaggerated startle response, Dystonia, Broad-based gait, Involuntary movements,... |
ORPHA:438213 |
Smith-Lemli-Opitz Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cryptorchidism, Patent ductus arteriosus, Chiari ty... |
OMIM:270400 |
Arboleda-Tham Syndrome |
|
Axial hypotonia, Hypotonia, Seizure, Lower limb hypertonia, Gait imbalance, Generalized hypotonia... |
OMIM:616268 |
Fraser Syndrome 2 |
|
Respiratory failure |
OMIM:617666 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Cerebellar atrophy, Hypotonia, Generalized hypotonia |
OMIM:210730 |
Melas |
|
Abnormal central motor function, Ataxia, Hemiparesis, Gait disturbance, Myoclonus |
ORPHA:550 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Seizure, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:319182 |
Pgm3-Cdg |
|
Ataxia, Myoclonus, Cortical myoclonus |
ORPHA:443811 |
Costello Syndrome |
|
Tracheomalacia, Respiratory failure, Pneumothorax, Respiratory insufficiency |
OMIM:218040 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Vocal cord paralysis |
ORPHA:276621 |
Ethylene Glycol Poisoning |
|
Slurred speech, Ataxia, Myoclonus |
ORPHA:31826 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Myoclonus |
ORPHA:314655 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Asthm... |
ORPHA:353281 |
Neuroleptic Malignant Syndrome |
|
Tremor, Chorea, Extrapyramidal muscular rigidity, Oculogyric crisis |
ORPHA:94093 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia |
OMIM:241080 |
Monosomy 22Q13.3 |
|
Seizure, Cerebellar cortical atrophy, Impaired pain sensation |
ORPHA:48652 |
Oculocerebrorenal Syndrome Of Lowe |
|
Clonus, Respiratory insufficiency, Seizure, Self-injurious behavior, EEG abnormality, Attention d... |
ORPHA:534 |
Farber Disease |
|
Paraparesis, Spasticity, Myoclonus |
ORPHA:333 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Facial hypotonia, Small for gestational age, Tremor, Hypotonia, Dystonia |
ORPHA:506358 |
Orofaciodigital Syndrome Iii |
|
Myoclonus |
OMIM:258850 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Spastic tetraplegia, Clonus, Myoclonus |
OMIM:619055 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Epileptic spasm, Recurrent pneumonia, Vocal cord paralysis, Hypsarrhythmia,... |
ORPHA:798 |
Ogden Syndrome |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Apnea, Pulmonary arterial... |
OMIM:300855 |
Legius Syndrome |
|
Chiari type I malformation, Hypotonia, Dystonia |
ORPHA:137605 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperkinetic movements, Myoclonic spasms |
ORPHA:73224 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Abnormal r... |
ORPHA:464306 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cerebellar dysplasia, Hydrocephalus, Myoclonus, Cerebellar hypoplasia, Spasticity, Cerebellar cyst |
OMIM:253280 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Myoclonus |
ORPHA:1352 |
Igg4-Related Thyroid Disease |
|
Vocal cord paralysis, Dysphagia |
ORPHA:64744 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Vocal cord paralysis |
ORPHA:29072 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Poor coordination, Spastic diplegia, Seizure, Abnormal repetitive mannerisms |
OMIM:309590 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Asthm... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Asthm... |
ORPHA:353277 |
Heterotaxy, Visceral, 5, Autosomal |
|
Cerebellar atrophy, Patent ductus arteriosus, Cerebellar hypoplasia, Cerebral atrophy |
OMIM:270100 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis |
OMIM:259730 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Poorly formed metencephalon, Cerebellar dysplasia |
OMIM:601374 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Seizure, Periodic hypokalemic paresis |
ORPHA:91347 |
1P36 Deletion Syndrome |
|
Hemiplegia/hemiparesis, Polyphagia, Self-injurious behavior, Seizure, EEG abnormality, Dysphagia,... |
ORPHA:1606 |
X-Linked Intellectual Disability, Snyder Type |
|
Inability to walk, Unsteady gait, Myoclonus, Involuntary movements |
ORPHA:3063 |
Tyrosinemia, Type I |
|
Periodic paralysis |
OMIM:276700 |
Degcags Syndrome |
|
Pneumonia, Oral-pharyngeal dysphagia, Asthma, Vocal cord paralysis, Rhinitis, Choking episodes, T... |
OMIM:619488 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Dystonia |
ORPHA:3464 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of the ovary, Decreased testicular size, Cerebellar cortical atrophy |
OMIM:619321 |
Norrie Disease |
|
Clonus, Seizure, EEG abnormality, Hypertonia, Self-injurious behavior, Attention deficit hyperact... |
ORPHA:649 |
Duplication Of The Pituitary Gland |
|
Lower limb spasticity, Abnormal midbrain morphology |
ORPHA:314621 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax |
ORPHA:3404 |
Achondroplasia |
|
Brain stem compression |
OMIM:100800 |
Otopalatodigital Syndrome, Type Ii |
|
Respiratory failure, Respiratory insufficiency |
OMIM:304120 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Abnormal midbrain morphology, Impaired social interactions, Impair... |
ORPHA:293987 |
Osteogenesis Imperfecta |
|
Somatic sensory dysfunction, Ataxia, Brain stem compression, Gait disturbance, Paresthesia, Tetra... |
ORPHA:666 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:508498 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Abnormal repetitive mannerisms |
OMIM:618653 |
Cancer-Associated Retinopathy |
|
Diffuse cerebellar atrophy, Testicular neoplasm |
ORPHA:71505 |
Alström Syndrome |
|
Somatic sensory dysfunction, Incoordination, Ataxia, Typical absence seizure, Poor fine motor coo... |
ORPHA:64 |
Primrose Syndrome |
|
Restlessness, Ataxia, Aggressive behavior, Seizure, Self-injurious behavior, Tics, Attention defi... |
OMIM:259050 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Dystonia |
ORPHA:90349 |
Wolf-Hirschhorn Syndrome |
|
Seizure, Abnormal repetitive mannerisms, EEG abnormality |
OMIM:194190 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Seizure, Abnormal repetitive mannerisms |
OMIM:616682 |
Neutral Lipid Storage Myopathy |
|
Fasciculations, Difficulty walking |
ORPHA:98908 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Seizure, Attention deficit hyperactivity disorder, Dysphagia, Abnor... |
OMIM:619522 |
Lowe Oculocerebrorenal Syndrome |
|
Seizure, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
Coffin-Siris Syndrome 12 |
|
Seizure, Abnormal repetitive mannerisms |
OMIM:619325 |
Feingold Syndrome 1 |
|
Vocal cord paralysis |
OMIM:164280 |
Doors Syndrome |
|
Small cerebellar cortex, Spina bifida occulta, Myoclonus, Dandy-Walker malformation |
ORPHA:79500 |
Williams-Beuren Syndrome |
|
Incoordination, Poor coordination, Vocal cord paralysis, Attention deficit hyperactivity disorder... |
OMIM:194050 |
Crimean-Congo Hemorrhagic Fever |
|
Fasciculations |
ORPHA:99827 |