Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
Myoclonus, Familial, 2 |
|
Limb myoclonus |
OMIM:618364 |
Epilepsy, Familial Adult Myoclonic, 6 |
|
Myoclonic tremor |
OMIM:618074 |
Hemifacial Spasm, Familial |
|
Hemifacial spasm |
OMIM:141405 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Fasciculations |
OMIM:608030 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Upper motor neuron dysfunction |
OMIM:612577 |
Primary Lateral Sclerosis, Adult, 1 |
|
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Dysphagia, Abnormal upper motor neuron m... |
OMIM:611637 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Fasciculations |
OMIM:619141 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired vibratory sensation, Impaired temperature sensation, Impaired pain sensation, Impaired p... |
DECIPHER:29 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Epilepsy, Familial Adult Myoclonic, 7 |
|
Myoclonic tremor |
OMIM:618075 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Impaired proprioception, Abn... |
ORPHA:95434 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Lower limb spasticity, Amyotrophic lateral sclerosis |
OMIM:614373 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... |
OMIM:105500 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Fasciculations, Spasticity |
OMIM:614808 |
Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal tracts, Degeneration of ... |
OMIM:105400 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Fasciculations |
ORPHA:65684 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Spasticity |
OMIM:611895 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tetraparesis, Spasticity |
OMIM:617892 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells, Tongue fasciculations, Hand tremor |
OMIM:253550 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... |
OMIM:602099 |
Chorea, Benign Hereditary |
|
Chorea, Frequent falls, Gait disturbance |
OMIM:118700 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Involuntary movements, Paroxysmal dyskinesia |
OMIM:611031 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... |
OMIM:616437 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations |
OMIM:613435 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus |
OMIM:604827 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Infantile Spasms Syndrome |
|
Myoclonus |
ORPHA:3451 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus |
OMIM:217200 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Juvenile Primary Lateral Sclerosis |
|
Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Dysphagia, Abnormal upper moto... |
ORPHA:247604 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Paralysis |
OMIM:300857 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... |
OMIM:105550 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa... |
ORPHA:98810 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus |
OMIM:125370 |
Striatal Degeneration, Autosomal Dominant 2 |
|
Chorea, Parkinsonism |
OMIM:616922 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Upper motor neuron dysfunction |
ORPHA:401901 |
Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements |
OMIM:618425 |
Myoclonus-Dystonia Syndrome |
|
Spinal myoclonus, Limb myoclonus, Torticollis, Myoclonus |
ORPHA:36899 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab... |
OMIM:613954 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
Spinal Muscular Atrophy, Type Iii |
|
Degeneration of anterior horn cells, Limb fasciculations, Tongue fasciculations, Hand tremor |
OMIM:253400 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Childhood-Onset Benign Chorea With Striatal Involvement |
|
Chorea, Parkinsonism with favorable response to dopaminergic medication |
ORPHA:494541 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Chorea, Involuntary movements |
OMIM:616939 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Axonal degeneration, Hand tremor, Distal sensory impairment, Degeneration of anterior horn cells,... |
OMIM:604484 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Choreoathetosis, Paresthesia, Parox... |
ORPHA:98811 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br... |
ORPHA:412066 |
Gordon Holmes Syndrome |
|
Ataxia, Hypogonadotropic hypogonadism, Chorea, Primary amenorrhea, Secondary amenorrhea, Oligomen... |
OMIM:212840 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign, Fasciculations, Neuronal... |
OMIM:608627 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... |
ORPHA:35689 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Myoclonus |
OMIM:102300 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Chorea |
OMIM:601372 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Neurogenic bladder, Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Babinski sign, Cerebral ... |
OMIM:615911 |
Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Babinski sign, Spastic dysarthria, Pseudobulbar pa... |
OMIM:606353 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... |
OMIM:500003 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... |
OMIM:615957 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Babinski sign, Spasticity |
OMIM:612069 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Dystonia 15, Myoclonic |
|
Myoclonus |
OMIM:607488 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Ata... |
OMIM:205100 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus |
OMIM:208700 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo... |
OMIM:600143 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
3-Methylglutaconic Aciduria, Type Iii |
|
Ataxia, Chorea, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity |
OMIM:258501 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Frequent falls |
OMIM:159950 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Myoclonus |
OMIM:159900 |
Developmental And Epileptic Encephalopathy 11 |
|
Hyperkinetic movements, Spastic tetraplegia |
OMIM:613721 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Parkinsonism |
OMIM:600274 |
Developmental And Epileptic Encephalopathy 37 |
|
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M... |
OMIM:616981 |
Paroxysmal Kinesigenic Dyskinesia |
|
Athetosis, Chorea, Involuntary movements |
ORPHA:98809 |
Huntington Disease-Like 2 |
|
Chorea, Involuntary movements, Gait disturbance, Parkinsonism |
ORPHA:98934 |
Facial Onset Sensory And Motor Neuronopathy |
|
Fasciculations |
ORPHA:85162 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Chorea |
OMIM:614055 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Ataxia, Rigidity, Myoclonus, Intention tremor |
OMIM:618876 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Paroxysmal dyskinesia |
ORPHA:31709 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Huntington Disease-Like 1 |
|
Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria |
OMIM:603218 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent l... |
OMIM:204500 |
Choreoathetosis, Familial Inverted |
|
Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign, Gait disturbance |
OMIM:118750 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... |
OMIM:611302 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, Tongue fasciculations, Fas... |
OMIM:607596 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Babinski sign, Spastic paraplegia, Spastic tetraplegia, T... |
OMIM:607225 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal at... |
ORPHA:363710 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Cataract 11, Multiple Types |
|
Chorea, Hypertonia |
OMIM:610623 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
Hereditary Geniospasm |
|
Chin myoclonus, Intention tremor |
ORPHA:53372 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... |
OMIM:606777 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... |
OMIM:113610 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus |
OMIM:619647 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements |
OMIM:620245 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia |
OMIM:618501 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Cerebellar Purkinje layer atrophy, Spinal ... |
ORPHA:98756 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Chorea, Gait disturbance |
OMIM:607674 |
Pontocerebellar Hypoplasia, Type 2C |
|
Chorea |
OMIM:612390 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Chorea, Ataxia |
OMIM:618683 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... |
OMIM:618317 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... |
OMIM:607317 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Combined Saposin Deficiency |
|
Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations, Neuronal loss in central nervou... |
OMIM:611721 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal a... |
OMIM:613728 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paralysis |
OMIM:608634 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Neurogenic bladder, Facial-lingual fa... |
ORPHA:276244 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Clumsiness, Gait disturbance, Sp... |
ORPHA:216873 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Br... |
OMIM:607136 |
Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Hand tremor |
ORPHA:86814 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... |
OMIM:615362 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... |
OMIM:215470 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Chorea, Poor coordination, Falls, Paroxysmal dyskinesia |
OMIM:619150 |
Lethal Congenital Contracture Syndrome 8 |
|
Neonatal death, Death in infancy, Vocal cord paralysis, Oral-pharyngeal dysphagia |
OMIM:616287 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... |
OMIM:613135 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, M... |
OMIM:616230 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia |
OMIM:618093 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Limb hypertonia |
ORPHA:324588 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Dystonia 31 |
|
Abnormal posturing, Parkinsonism, Difficulty walking |
OMIM:619565 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Parkinsonism, Increased neuronal autofluorescent lipopigment, Abnormality of extrapyramid... |
OMIM:162350 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Pontocerebellar Hypoplasia, Type 2D |
|
Appendicular spasticity, Chorea, Clonus, Spastic tetraplegia |
OMIM:613811 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga... |
OMIM:605259 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... |
ORPHA:254343 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity |
ORPHA:803 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis, Spasticity, N... |
OMIM:615924 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Huntington Disease |
|
Rigidity, Chorea, Bradykinesia, Gait ataxia |
OMIM:143100 |
Spinal Muscular Atrophy, Type Iv |
|
Degeneration of anterior horn cells, Tongue fasciculations, Hand tremor |
OMIM:271150 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Polyglucosan Body Neuropathy, Adult Form |
|
Neurogenic bladder, Spastic paraplegia, Distal sensory impairment, Paresthesia, Tetraparesis, Abn... |
OMIM:263570 |
Pontocerebellar Hypoplasia Type 1 |
|
Ataxia, Degeneration of anterior horn cells, Tongue fasciculations, Spasticity, Cerebral cortical... |
ORPHA:2254 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Distal sensory impairment |
OMIM:615048 |
Sandhoff Disease, Adult Form |
|
Tremor, Spasticity, Fasciculations, Gait ataxia |
ORPHA:309169 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata... |
ORPHA:248111 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... |
OMIM:256731 |
Rabies |
|
Vocal cord paresis, Attention deficit hyperactivity disorder, Cerebral palsy, Anorexia |
ORPHA:770 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Parkinsonism, Head titubati... |
ORPHA:300605 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Abnormality of extrapyr... |
OMIM:204300 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Developmental And Epileptic Encephalopathy 69 |
|
Corpus callosum atrophy, Spastic tetraplegia, Hyperkinetic movements, Myoclonus, Cerebral cortica... |
OMIM:618285 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Postural tremor, Parkinsonism, Chorea, Hand tremor, Athetosis |
OMIM:615483 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Chorea |
OMIM:618760 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations |
OMIM:271200 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Spastic Paraplegia 70, Autosomal Recessive |
|
Ankle clonus, Somatic sensory dysfunction, Fasciculations, Spasticity |
OMIM:620323 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... |
OMIM:607346 |
Developmental And Epileptic Encephalopathy 17 |
|
Inability to walk, Athetosis, Chorea |
OMIM:615473 |
Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Hypergonadotropic hypogonadism, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myocl... |
ORPHA:251347 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Dystonia 23 |
|
Cerebellar atrophy, Torticollis, Myoclonus, Head tremor, Cerebral cortical atrophy |
OMIM:614860 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Sydenham Chorea |
|
Chorea, Unsteady gait, Hemiballismus |
ORPHA:306731 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Chorea, Paroxysmal dyskinesia |
ORPHA:79137 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Dy... |
OMIM:604391 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Chorea, Athetosis, Abnormality of extrapyramidal motor function, Progressive extrapyramid... |
ORPHA:382 |
Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia... |
ORPHA:157941 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis |
OMIM:612740 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Eyelid myoclonus |
OMIM:618357 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Degeneration of anterior horn cells, Tongue fasciculations |
OMIM:301830 |
Developmental And Epileptic Encephalopathy 27 |
|
Chorea, Myoclonus, Spasticity |
OMIM:616139 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Fasciculations, Brain atrophy, U... |
ORPHA:52430 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl... |
ORPHA:79263 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Vocal tremor |
ORPHA:420485 |
Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Involuntary movements, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal si... |
ORPHA:98759 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Episodic ataxia, Parox... |
ORPHA:53583 |
Alternating Hemiplegia Of Childhood 2 |
|
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Hemiplegia |
OMIM:614820 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal sensory impairment,... |
OMIM:606070 |
Lethal Congenital Contracture Syndrome 7 |
|
Paralysis, Oral-pharyngeal dysphagia |
OMIM:616286 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Bradykinesia, Action tremor |
OMIM:606438 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Hyperk... |
ORPHA:13 |
Infantile Dystonia-Parkinsonism |
|
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp... |
ORPHA:238455 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis |
OMIM:104290 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Glo... |
OMIM:619738 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Babinski sign, Spastic paraplegia, Limb fasciculations, Tongue fasciculations, Spastic gait |
ORPHA:329475 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal sign, Abnormality o... |
OMIM:617672 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Difficulty walking, ... |
ORPHA:53351 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
Huntington Disease-Like 3 |
|
Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Abnormality of extrapyramidal motor funct... |
OMIM:604802 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,... |
OMIM:615491 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Choreoathetosis, Athetosis, Chorea |
OMIM:309541 |
O'Sullivan-Mcleod Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Tremor, Atrophy ... |
ORPHA:99965 |
Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Chorea, Cerebral palsy, Spasticity |
OMIM:618557 |
Basal Ganglia Calcification, Idiopathic, 6 |
|
Choreoathetosis, Involuntary movements, Parkinsonism |
OMIM:616413 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Involuntary movements, Chorea, Cerebral atrophy, Athetosis, Hyperkinetic move... |
OMIM:617493 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, Distal sen... |
OMIM:208920 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Progressive extrapyram... |
ORPHA:401768 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Torticollis, Paroxysmal choreoathetosis |
OMIM:118800 |
Amyotrophy, Monomelic |
|
Cervical spinal cord atrophy, Fasciculations |
OMIM:602440 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Tremor, Eyelid myoclonus, Clumsiness, Myoclonus, Limb myo... |
ORPHA:2590 |
Huntington Disease |
|
Clonus, Involuntary movements, Abnormal libido, Rigidity, Inability to walk, Chorea, Babinski sig... |
ORPHA:399 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Myoclonus, Dysmetria |
OMIM:619191 |
Dystonia 9 |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Episodic ataxia |
OMIM:601042 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil... |
OMIM:607483 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Chorea, Slurred speech, Impaired proprioception, Dysmetria, Bradykinesia, Progre... |
ORPHA:98755 |
Huntington Disease-Like 3 |
|
Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormal pyramidal sign, Progressive ... |
ORPHA:157946 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Gait ... |
ORPHA:225147 |
Dystonia 6, Torsion |
|
Torticollis, Myoclonus |
OMIM:602629 |
Epilepsy, Progressive Myoclonic, 9 |
|
Action myoclonus, Frequent falls, Myoclonus, Gait ataxia |
OMIM:616540 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Impaired pain sensation, Inability to walk, Chorea, Abnormal pyramidal sign, Gait ataxia, Abnorma... |
ORPHA:500180 |
Spinocerebellar Ataxia 2 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity... |
OMIM:183090 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... |
OMIM:133190 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto... |
OMIM:617282 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Parkinsonism with favo... |
ORPHA:314632 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Intenti... |
OMIM:619725 |
Creutzfeldt-Jakob Disease |
|
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia |
OMIM:123400 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus |
OMIM:613608 |
Developmental And Epileptic Encephalopathy 40 |
|
Spastic tetraparesis, Choreoathetosis, Myoclonus, Spasticity, Cerebral cortical atrophy |
OMIM:617065 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Spasticity, Ataxia, Myoclonus |
OMIM:545000 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus |
OMIM:619317 |
Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal choreoathetosis |
OMIM:128200 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... |
OMIM:606159 |
Corticobasal Syndrome |
|
Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad... |
ORPHA:454887 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Inability to walk, Chorea, Hyperkinetic movements, Myoclonus, Spasticity |
OMIM:614254 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cryptorchidism, Inability to walk, Chorea, Gait ataxia, Spasticity |
OMIM:618917 |
Toxin-Mediated Infectious Botulism |
|
Diaphragmatic paralysis, Cerebral palsy, Paralysis, Dysphagia |
ORPHA:230800 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Impaired distal vibration sensation, Tongue fasciculations, Fasciculations, Upper motor n... |
ORPHA:276435 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis |
OMIM:613710 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Spastic tetraplegia, Myoclonus, Atrophy/Degeneration affecting the br... |
OMIM:619971 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Cerebral atrophy, Distal sensory impairment, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:604218 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity |
OMIM:616494 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus |
OMIM:619028 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Dystonia 26, Myoclonic |
|
Blepharospasm, Torticollis, Myoclonus |
OMIM:616398 |
Schimke X-Linked Mental Retardation Syndrome |
|
Choreoathetosis, Spasticity |
OMIM:312840 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis |
ORPHA:640 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Neurogenic bladder, Incoordination, Aggressive behavior, Paralysis, Paraparesis, P... |
ORPHA:43 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Incoordination, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, Abno... |
OMIM:616688 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks |
OMIM:254770 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... |
OMIM:618598 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... |
OMIM:604290 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology, Tongue fasciculations |
ORPHA:1145 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Loss of ambulation, Spa... |
OMIM:618088 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Diffuse cerebral atrophy, Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal mot... |
ORPHA:352596 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Hof... |
OMIM:601162 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Myoclonus, Hand tremor |
OMIM:608105 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Aggressive behavior, Babinski sign, Inappropriate behavior, Disinhibition, Myoclonus, Apraxia, Ab... |
OMIM:221770 |
Myoclonus, Intractable, Neonatal |
|
Athetosis, Chorea, Myoclonus |
OMIM:617235 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Babinski sign, Spinal cord lesion, Spastic diplegia, Spastic dysarthria, Hypertonia, Myoc... |
ORPHA:401866 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Sneddon Syndrome |
|
Tremor, Chorea, Hemiparesis |
ORPHA:820 |
Spinocerebellar Ataxia 47 |
|
Chorea, Ataxia, Dysmetria, Spasticity |
OMIM:617931 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Spasticity |
OMIM:618451 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Impaired distal vibration sensation, Axonal degeneration, Fasciculations, Distal sensory impairment |
OMIM:614436 |
Spinocerebellar Ataxia 1 |
|
Impaired vibratory sensation, Impaired pain sensation, Chorea, Babinski sign, Impaired propriocep... |
OMIM:164400 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Vocal cord paresis, Amyotrophic lateral sclerosis, Distal sensory impairment |
ORPHA:600 |
Machado-Joseph Disease Type 1 |
|
Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ... |
ORPHA:276241 |
Progressive Myoclonic Epilepsy Type 3 |
|
Cerebellar atrophy, Progressive truncal ataxia, Cerebral atrophy, Progressive cerebellar ataxia, ... |
ORPHA:263516 |
Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Spasticity |
OMIM:271930 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus |
OMIM:619651 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Cryptorchidism, Chorea, Unsteady gait, Progressive cerebellar ataxia, Uppe... |
ORPHA:485350 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Hypertonia, Choreoathetosis, Myoclonus |
OMIM:261630 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Cryptorchidism, Chorea, Spasticity |
OMIM:613970 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Neonatal death, D... |
OMIM:611890 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressive spastic paraplegia |
ORPHA:306511 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Athetosis, Chorea, Spastic tetraplegia |
OMIM:619922 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Chorea, Hemiballismus, Spastic tetraparesis |
OMIM:618567 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Restless legs, Postural tremor, Abnormal spinal cord morphology, Babinski sign, Vocal cord paraly... |
ORPHA:99947 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Choreoathetosis, Hyperkinetic movements, Athetoid cerebral palsy |
OMIM:618218 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Choreoathetosis, Hyperkinetic movements, Myoclonus, Cerebral atrophy |
OMIM:618497 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements |
ORPHA:397933 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Paralysis |
OMIM:605285 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Limb ataxia, Dysmetria, Ankle clonus, Progressive cerebellar ... |
ORPHA:284289 |
Acute Peripheral Arterial Occlusion |
|
Paralysis |
ORPHA:90064 |
Early-Onset X-Linked Optic Atrophy |
|
Babinski sign, Gait ataxia, Choreoathetosis, Dysdiadochokinesis, Intention tremor |
ORPHA:98890 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Folinic Acid-Responsive Seizures |
|
Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Hypertonia, Difficulty walking |
ORPHA:79097 |
Spastic Paraplegia 86, Autosomal Recessive |
|
Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis |
OMIM:619735 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Parkinsonism, Facial-lingual fasciculat... |
OMIM:109150 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Hypergonadotropic hypogonadism, Ataxia, Hypogonadotropic hypogonadism, Chorea, Babinski sign, Pri... |
OMIM:604168 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic par... |
OMIM:614487 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig... |
ORPHA:225154 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Frequent falls |
OMIM:301020 |
Birk-Aharoni Syndrome |
|
Inability to walk, Chorea, Spastic tetraplegia, Cryptorchidism |
OMIM:620071 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Fasciculations, Distal sensory impairment |
OMIM:606595 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Postnatal growth retardation, Choreoathetosis, Gait disturbance, Myoclo... |
ORPHA:391417 |
Congenital Disorder Of Glycosylation, Type In |
|
Spasticity, Ataxia, Myoclonus, Cerebral atrophy |
OMIM:612015 |
Isaacs Syndrome |
|
Fasciculations, Distal sensory impairment |
ORPHA:84142 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Truncal titubation, Limb ataxia, Dysmetria, Gait ataxia, Impaired tandem gait, ... |
OMIM:117360 |
Friedreich Ataxia |
|
Inability to walk, Chorea, Babinski sign, Impaired proprioception, Dysmetria, Gait ataxia, Limb a... |
ORPHA:95 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Fasciculations |
OMIM:615575 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myoclonus, Spasticity |
OMIM:256730 |
Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Ataxia, Myoclonus |
OMIM:617829 |
Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ... |
OMIM:614153 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus |
ORPHA:139485 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Postnatal growth retardation, Chorea, Abnormal pyramidal sign, Prog... |
ORPHA:309246 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Abnormal posturing, Opisthotonus, Tip-toe gait, Gait disturbance, Spasticity, ... |
ORPHA:216866 |
Developmental And Epileptic Encephalopathy 16 |
|
Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Cerebral atrophy |
OMIM:615338 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Alexander Disease Type Ii |
|
Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor, Cervical spinal... |
ORPHA:363722 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Babinski sign, Hand tremor, Limb ataxia, Dysmetria, Tongue fasciculations, Head tremor, T... |
ORPHA:276198 |
Episodic Ataxia Type 7 |
|
Episodic ataxia, Hyperkinetic movements |
ORPHA:209970 |
Sandhoff Disease, Juvenile Form |
|
Cerebellar atrophy, Incoordination, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, Abnormalit... |
ORPHA:309162 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Babinski sign, Ataxia, Spastic diplegia, Myoclonus |
OMIM:619065 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Fasciculations, Distal sensory impairment |
OMIM:137200 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Degeneration of anterior horn cells, Axonal degeneration, Diaphragmatic paralysis |
OMIM:604320 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Frontal cortical atrophy, Hypertonia, Limb tremor, Myoclonus |
OMIM:300699 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity, Abnormal posturing |
OMIM:304700 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Limb hypertonia |
OMIM:233910 |
Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Parkinsonism, Cerebral atrophy, Syringomyelia, Myelitis |
ORPHA:1320 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Myoclonus |
OMIM:254800 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Choreoathetosis, Spastic diplegia |
OMIM:617270 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead... |
OMIM:609270 |
Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... |
ORPHA:98757 |
Oculorenocerebellar Syndrome |
|
Choreoathetosis, Spastic diplegia |
OMIM:257970 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... |
ORPHA:391411 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreoathetosis,... |
OMIM:618877 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Increased extraneuronal autofluorescent lipopigment, Parkinsonism, Increased neuronal autofluores... |
OMIM:204200 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality of extrapyramidal motor ... |
OMIM:615673 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, G... |
OMIM:615157 |
Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus |
ORPHA:139406 |
Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Myoclonus, Global brain atrophy |
OMIM:609056 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Inability to walk, Chorea, Ataxia, Spasticity |
ORPHA:70472 |
Pontocerebellar Hypoplasia, Type 1E |
|
Cerebellar atrophy, Myoclonus |
OMIM:619303 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Tremor, Inability to walk, Babinski sign, Blepharospasm, Hypertonia, Abnormal posturing |
OMIM:128100 |
Episodic Ataxia, Type 5 |
|
Episodic ataxia, Ataxia, Myoclonus, Truncal ataxia |
OMIM:613855 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Spastic... |
ORPHA:313772 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Hyperkinetic movements, Difficulty walking, Truncal ataxia |
ORPHA:369847 |
Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis |
ORPHA:681 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis |
ORPHA:140989 |
Leukodystrophy, Hypomyelinating, 16 |
|
Broad-based gait, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Choreoathetosis, Hypertonia, S... |
OMIM:617964 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Babinski sign, Choreoathetosis, Frequent falls |
OMIM:619054 |
Ane Syndrome |
|
Motor neuron atrophy |
ORPHA:157954 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Neurogenic bladder, Involuntary movements, Abnormal pyramidal sign, Dysmetria... |
OMIM:619780 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Distal s... |
OMIM:603516 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Choreoathetosis, Hemiplegia/hemiparesis, Chorea |
ORPHA:289916 |
Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis |
OMIM:614198 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Abnormality of extrapyramidal m... |
ORPHA:204 |
Laryngeal Abductor Paralysis |
|
Vocal cord paralysis, Dysphagia |
OMIM:150260 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Spasticity |
OMIM:617284 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Choreoathetosis, Spasticity |
OMIM:614249 |
Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus |
OMIM:614018 |
Pontocerebellar Hypoplasia Type 4 |
|
Hypertonia, Myoclonus |
ORPHA:166063 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Hyperkinetic movements, Ataxia |
OMIM:271980 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Mepan Syndrome |
|
Ataxia, Chorea, Gait disturbance, Myoclonus, Spasticity |
ORPHA:508093 |
Developmental And Epileptic Encephalopathy 72 |
|
Hyperkinetic movements, Cerebral atrophy |
OMIM:618374 |
Leukodystrophy, Hypomyelinating, 4 |
|
Head titubation, Babinski sign, Spastic paraplegia, Choreoathetosis, Progressive spasticity |
OMIM:612233 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep... |
OMIM:606002 |
Thyrocerebrorenal Syndrome |
|
Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
Nasu-Hakola Disease |
|
Oculomotor apraxia, Chorea, Spasticity |
ORPHA:2770 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... |
OMIM:618060 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Choreoathetosis, Spasticity |
OMIM:308950 |
Foodborne Botulism |
|
Diaphragmatic paralysis, Cerebral palsy, Paralysis, Dysphagia |
ORPHA:228371 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Brain atrophy |
OMIM:619092 |
Developmental And Epileptic Encephalopathy 110 |
|
Pain insensitivity, Chorea, Spasticity |
OMIM:620149 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Dysesthesia, Gait ataxia, Paresthesia, Abnormality of extrapyramidal motor function, Limb myoclon... |
ORPHA:356 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... |
OMIM:137440 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
Pontocerebellar Hypoplasia, Type 2B |
|
Clonus, Chorea, Babinski sign, Opisthotonus, Extrapyramidal dyskinesia, Spasticity, Limb hypertonia |
OMIM:612389 |
Phosphoserine Aminotransferase Deficiency |
|
Hypertonia, Myoclonus |
OMIM:610992 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Spasticity, Myoclonus |
OMIM:618201 |
Alzheimer Disease 3 |
|
Spastic tetraparesis, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Apr... |
OMIM:607822 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... |
ORPHA:459056 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... |
ORPHA:101150 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Vocal cord paralysis |
OMIM:162500 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Thyrocerebroretinal Syndrome |
|
Slurred speech, Ataxia, Myoclonus |
OMIM:274240 |
Classic Galactosemia |
|
Speech apraxia, Male infertility, Incoordination, Ataxia, Postural tremor, Premature ovarian insu... |
ORPHA:79239 |
Alexander Disease |
|
Ataxia, Babinski sign, Dysmetria, Spasticity, Palatal tremor |
OMIM:203450 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Morning myoclonic jerks, Episodic ataxia, Myoclonus, Truncal ataxia |
OMIM:607682 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypertonia, Myoclonus |
OMIM:610090 |
Pontocerebellar Hypoplasia, Type 4 |
|
Spasticity, Hypertonia, Myoclonus |
OMIM:225753 |
Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Hyperkinetic movements, Clumsiness |
ORPHA:725 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... |
ORPHA:363400 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Systemic Lupus Erythematosus 17 |
|
Chorea |
OMIM:301080 |
Snakebite Envenomation |
|
Respiratory paralysis, Pseudobulbar paralysis, Neuromuscular dysphagia, Paralysis |
ORPHA:449285 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Caudate atrophy, Babinski sign, Myoclonus, Apraxia, Cerebral cortical atrophy |
OMIM:618193 |
Neuroferritinopathy |
|
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk... |
ORPHA:157846 |
Leukodystrophy, Hypomyelinating, 2 |
|
Ataxia, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Progressive spasticity, Spasti... |
OMIM:608804 |
D-Glyceric Aciduria |
|
Chorea, Myoclonus, Spasticity |
ORPHA:941 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, ... |
OMIM:614298 |
Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Weakness due to upper motor neuron dysfunctio... |
ORPHA:79139 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Somatic sensory dysfunction, Fasciculations, Impaired distal tactile sensation |
OMIM:600882 |
Pandas |
|
Chorea, Clumsiness |
ORPHA:66624 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Chorea |
OMIM:616744 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Autosomal Recessive Ataxia, Beauce Type |
|
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, D... |
ORPHA:88644 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Degeneration of anterior horn cells |
OMIM:271225 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spastic tetraple... |
OMIM:300055 |
Foxg1 Syndrome |
|
Choreoathetosis, Spasticity, Hyperkinetic movements, Myoclonus |
ORPHA:561854 |
Perioral Myoclonia With Absences |
|
Chin myoclonus |
ORPHA:139426 |
Juvenile Absence Epilepsy |
|
Myoclonus |
ORPHA:1941 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Hypertonia, Spas... |
OMIM:610217 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Dysdiadochokinesis, Hypertonia, Myoclonus, ... |
OMIM:618356 |
Narp Syndrome |
|
Ataxia, Babinski sign, Progressive gait ataxia, Corticospinal tract atrophy, Myoclonic spasms, Ce... |
ORPHA:644 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Chorea, Difficulty walking, Truncal ataxia |
ORPHA:369840 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Lim... |
ORPHA:48818 |
Hereditary Hyperekplexia |
|
Ataxia, Rigidity, Hypertonia, Myoclonus, Fasciculations, Spasticity |
ORPHA:3197 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Pain insensitivity, Ataxia, Rigidity, Inability to walk, Chorea, Cryptorch... |
OMIM:300260 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
Metachromatic Leukodystrophy |
|
Ataxia, Chorea, Babinski sign, Spastic tetraplegia, Tetraplegia, Gait disturbance |
OMIM:250100 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus |
ORPHA:254881 |
Hyperekplexia 4 |
|
Hypertonia, Myoclonus, Cerebral atrophy |
OMIM:618011 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Limb hypertonia |
OMIM:261640 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
Pontocerebellar Hypoplasia, Type 8 |
|
Involuntary movements, Chorea, Gait ataxia, Hypertonia, Spasticity |
OMIM:614961 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Ataxia, Involuntary movements, Choreoathetosis, Spasticity, Limb hypertonia |
OMIM:615905 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Spasticity, Ataxia, Myoclonus, Brain atrophy |
OMIM:618225 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Myoclonus, Dysmetria |
OMIM:618251 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hypertonia, Cerebral cortical atrophy, Cerebral atrophy, Hyperkinetic movements |
OMIM:236270 |
Myoclonic Epilepsy Of Infancy |
|
Hemiplegia, Poor motor coordination, Myoclonus, Poor hand-eye coordination |
ORPHA:86909 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Spastic diplegia, Cerebral atr... |
ORPHA:391428 |
Full Schwannomatosis |
|
Hypoesthesia, Paresthesia, Spinal cord tumor, Fasciculations |
ORPHA:93921 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Chorea, Hypertonia, Ataxia |
ORPHA:52503 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Dysmetria, Distal sensory impairment, Gait ata... |
OMIM:616505 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Morning myoclonic jerks, Diffuse cerebral atrophy |
ORPHA:2898 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Inability to walk, Chorea, Spastic tetraplegia, Hypertonia, Spasticity |
OMIM:617864 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Hemimegalencephaly |
|
Hemiparesis, Myoclonus, Abnormal neuron morphology |
ORPHA:99802 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Chorea, Cerebral palsy, Myoclonus |
OMIM:617600 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Parkinsonism, Spastic tetraparesis, Inability to walk, Opisthotonus, Choreoathetosis, Apraxia, Sp... |
OMIM:619653 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Rigidity, Myoclonus, Cerebral atrophy |
OMIM:619057 |
Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, Choreoathetosis |
OMIM:612126 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Spasticity, Palatal tremor |
ORPHA:363717 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Rigidity, Babinski sign, Myoclonus, Neuronal loss in central nervous system, Cerebral cortical at... |
OMIM:600795 |
Developmental And Epileptic Encephalopathy 29 |
|
Blepharospasm, Chorea, Spasticity |
OMIM:616339 |
Poliomyelitis |
|
Anorexia, Paralysis, Paraparesis, Hyperkinetic movements, Agitation, Fasciculations, Dysphagia, M... |
ORPHA:2912 |
Developmental And Epileptic Encephalopathy 64 |
|
Hemiparesis, Inability to walk, Chorea, Limb hypertonia |
OMIM:618004 |
Dystonia 34, Myoclonic |
|
Torticollis, Myoclonus, Hand tremor, Head tremor |
OMIM:619724 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Impaired prop... |
ORPHA:101085 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Cerebellar atrophy, Athetosis, Rigidity, Myoclonus |
OMIM:618241 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Cerebral atrophy, M... |
ORPHA:442835 |
Familial Cervical Artery Dissection |
|
Paralysis |
ORPHA:36382 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Spasticity, Ataxia, Myoclonus |
OMIM:620094 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired pain sensation, Tremor, Impaired temperature sensation, Impaired distal vibration sensat... |
OMIM:619574 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Titubation, Ga... |
ORPHA:98768 |
Brody Disease |
|
Somatic sensory dysfunction, Fasciculations |
OMIM:601003 |
Developmental And Epileptic Encephalopathy 84 |
|
Chorea, Babinski sign, Spasticity, Opisthotonus |
OMIM:618792 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... |
ORPHA:64753 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Waddling gait, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hyperkinetic... |
OMIM:615356 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, P... |
ORPHA:206594 |
Early-Onset Lafora Body Disease |
|
Ataxia, Myoclonus, Spastic tetraparesis |
ORPHA:324290 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Increased cerebral lipofuscin, Myoclonus, Intention tremor |
OMIM:610539 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Frontotemporal c... |
ORPHA:100070 |
Developmental And Epileptic Encephalopathy 54 |
|
Myoclonus |
OMIM:617391 |
Multifocal Motor Neuropathy |
|
Fasciculations |
ORPHA:641 |
Pontocerebellar Hypoplasia, Type 2A |
|
Chorea, Extrapyramidal dyskinesia, Opisthotonus |
OMIM:277470 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Vocal cord paresis |
OMIM:607706 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar atrophy, Ataxia, Babinski sign, Gait ataxia, Hyperkinetic movements, Spasticity |
OMIM:620089 |
Peho-Like Syndrome |
|
Cerebellar atrophy, Myoclonus |
OMIM:617507 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia |
OMIM:250620 |
Metachromatic Leukodystrophy, Adult Form |
|
Chorea, Babinski sign, Clumsiness, Progressive spastic quadriplegia, Progressive gait ataxia, Dec... |
ORPHA:309271 |
Early Myoclonic Encephalopathy |
|
Myoclonus |
ORPHA:1935 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Lower limb spasticity, Ataxia, Cerebral atrophy, Fasciculations, Spasticity, Progressive spastic ... |
ORPHA:464282 |
Abeta Amyloidosis, Iowa Type |
|
Myoclonus |
ORPHA:324708 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Chorea, Myoclonus, Tetraparesis, Opisthotonus |
OMIM:616672 |
Ritscher-Schinzel Syndrome 4 |
|
Athetosis, Chorea, Ataxia, Cryptorchidism |
OMIM:619435 |
Oculopharyngodistal Myopathy |
|
Impaired oropharyngeal swallow response, Vocal cord paresis, Paraplegia, Oral-pharyngeal dysphagia |
ORPHA:98897 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
Developmental And Epileptic Encephalopathy 109 |
|
Spasticity, Myoclonus, Gait ataxia |
OMIM:620145 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Hypertonia, Myoclonus, Brain atrophy |
OMIM:617290 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Gait ataxia, Atrophy/Degeneration i... |
ORPHA:70595 |
Glycine Encephalopathy 1 |
|
Myoclonus |
OMIM:605899 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Lower limb spasticity, Babinski sign, Fasciculations |
OMIM:615290 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... |
ORPHA:33069 |
Cimdag Syndrome |
|
Hypogonadism, Chorea, Ataxia, Spasticity |
OMIM:619273 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
Rheumatic Fever |
|
Hemiballismus, Chorea, Gait disturbance, Fasciculations |
ORPHA:3099 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Optic Atrophy 11 |
|
Ataxia, Gait apraxia, Dysmetria, Athetosis, Hyperkinetic movements, Brain atrophy |
OMIM:617302 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vocal cord paralysis |
OMIM:601650 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity |
OMIM:616640 |
Schindler Disease, Type I |
|
Spasticity, Myoclonus |
OMIM:609241 |
Charcot-Marie-Tooth Disease, Axonal, Type 2O |
|
Frequent falls, Distal sensory impairment |
OMIM:614228 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Cerebral atrophy, Choreoathetosis, Myoclonus, Episodic ataxia |
OMIM:312170 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Cerebral cortical atrophy |
ORPHA:1020 |
Snijders Blok-Fisher Syndrome |
|
Choreoathetosis, Cryptorchidism, Spasticity, Opisthotonus |
OMIM:618604 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Babinski sign, Myoclonus, Truncal ataxia, Spasticity |
OMIM:252011 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Hemiparesis, Chorea |
OMIM:618829 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Pontocere... |
OMIM:617854 |
Hyperkalemic Periodic Paralysis |
|
Death in infancy, Periodic hyperkalemic paralysis, Death in early adulthood, Cerebral palsy, Hype... |
ORPHA:682 |
Lennox-Gastaut Syndrome |
|
Myoclonus |
ORPHA:2382 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder, Vocal cord paralysis, Dysphagia, Myoclonus, Dystonia, Spasticity |
ORPHA:500144 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Choreoathetosis, Frequent falls, Ataxia |
OMIM:618416 |
Brain-Lung-Thyroid Syndrome |
|
Incoordination, Ataxia, Involuntary movements, Chorea, Clumsiness, Choreoathetosis, Falls, Myoclo... |
ORPHA:209905 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ... |
OMIM:612953 |
Neutral Lipid Storage Disease With Myopathy |
|
Fasciculations |
OMIM:610717 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Vocal cord paralysis, Truncal ataxia, Dysphagia, Clumsiness, Ankle clonus, Tongue fascicu... |
OMIM:211530 |
Leukodystrophy, Hypomyelinating, 10 |
|
Babinski sign, Cerebral atrophy, Hyperkinetic movements, Spasticity, Cerebral cortical atrophy |
OMIM:616420 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Ataxia, Spastic tetraparesis, Myelopathy, Abnormal spinal cord morphology,... |
ORPHA:139396 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Poor motor coordination, Ataxia, Tremor, Rigidity, Chorea, Athetosis |
ORPHA:25 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Ataxia, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis, Hyperkinetic... |
OMIM:616271 |
Allan-Herndon-Dudley Syndrome |
|
Ataxia, Cryptorchidism, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia, Choreoatheto... |
ORPHA:59 |
Pontocerebellar Hypoplasia, Type 1D |
|
Cerebellar atrophy, Cerebral atrophy, Tongue fasciculations, Fasciculations, Spasticity, Cerebral... |
OMIM:618065 |
Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis, Dysphagia |
ORPHA:684 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis |
OMIM:612300 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Paresthesia, Abnormality of extrapyramidal motor... |
ORPHA:79279 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Choreoathetosis, Inability to walk, Hypertonia, Rigidity |
OMIM:620023 |
Riboflavin Transporter Deficiency |
|
Tremor, Ataxia, Cerebral cortical atrophy, Myoclonus |
ORPHA:97229 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Torticollis, Limb tremor, Myoclonus, Head tremor, Cerebral cortical atrophy |
ORPHA:420492 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Ataxia, Tremor, Head titubation, Inability to walk, Spastic paraplegia, Abnorma... |
OMIM:312080 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Cerebral atrophy, Athetosis, Hyperkinetic movements, Spasticity, Global brain atrophy |
OMIM:612073 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Spasticity, Hyperkinetic movements |
OMIM:300957 |
Hyperekplexia 1 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls |
OMIM:149400 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614618 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus |
OMIM:618321 |
Caribbean Parkinsonism |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... |
ORPHA:97355 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Hyperkinetic movements, Upper limb spasticity |
ORPHA:457240 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Vocal cord paralysis, Dysphagia |
ORPHA:397744 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Inability to walk, Chorea, Ataxia, Involuntary movements |
OMIM:617804 |
Tick-Borne Encephalitis |
|
Speech apraxia, Incoordination, Anorexia, Paralysis, Tremor, Hyperkinetic movements, Tongue fasci... |
ORPHA:297 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Fasciculations |
ORPHA:206546 |
Gaucher Disease, Type Iii |
|
Ataxia, Myoclonus, Spastic paraparesis |
OMIM:231000 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Spast... |
ORPHA:765 |
Episodic Ataxia Type 1 |
|
Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait, Hypertonia |
ORPHA:37612 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ... |
ORPHA:2131 |
Microtriplication 11Q24.1 |
|
Speech apraxia, Hyperkinetic movements |
ORPHA:289522 |
Parkinsonian-Pyramidal Syndrome |
|
Neurogenic bladder, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:171695 |
Leigh Syndrome |
|
Ataxia, Involuntary movements, Chorea, Spastic diplegia, Choreoathetosis, Athetosis, Hyperkinetic... |
ORPHA:506 |
Oromandibular Dystonia |
|
Blepharospasm, Torticollis, Hyperkinetic movements |
ORPHA:93958 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Cerebellar atrophy, Ataxia, Hyperkinetic movements, Truncal ataxia, Neuronal loss in central nerv... |
OMIM:300243 |
Benign Samaritan Congenital Myopathy |
|
Fasciculations |
ORPHA:324581 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Babinski sign, Fasciculations |
OMIM:619733 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Hyper... |
OMIM:619847 |
Behavioral Variant Of Frontotemporal Dementia |
|
Frontotemporal cerebral atrophy, Abnormality of extrapyramidal motor function, Fasciculations, Up... |
ORPHA:275864 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Frequent falls, Impaired vibration sensation in the lower limbs, Fasciculations, Clumsiness |
ORPHA:521411 |
Nipah Virus Disease |
|
Tremor, Myoclonus |
ORPHA:99825 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hypertonia, Myoclonus |
OMIM:618240 |
3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Abnormal pyramidal sign, Cerebral atrophy, Opisthotonus, Choreoathetosis, Spa... |
ORPHA:445038 |
Charcot-Marie-Tooth Disease Type 4A |
|
Poor fine motor coordination, Vocal cord paresis, Frequent falls, Poor gross motor coordination |
ORPHA:99948 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Choreoathetosis, Oculomotor apraxia, Ataxia |
OMIM:245348 |
Developmental And Epileptic Encephalopathy 23 |
|
Myoclonus |
OMIM:615859 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Tremor, Fasciculations |
ORPHA:209335 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis |
OMIM:188580 |
Cog8-Cdg |
|
Cerebellar atrophy, Ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem |
ORPHA:95428 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Rift Valley Fever |
|
Miscarriage, Anorexia, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity |
ORPHA:319251 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Abnormal posturing |
OMIM:614857 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Spastic paraplegia, Cerebral atrophy, Opisthotonus, Choreoathetosis, Hypertonia, Tongue f... |
OMIM:614969 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Cerebral atrophy, Opisthotonus, Gait ataxia, Myoclonus, Hemiplegia, Spasticity |
OMIM:103050 |
Alexander Disease |
|
Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Gait disturbance, Spasticity |
ORPHA:58 |
Chromosome 18Q Deletion Syndrome |
|
Broad-based gait, Tremor, Cryptorchidism, Chorea, Poor coordination |
OMIM:601808 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Diffuse cerebral atrophy, Hypertonia, Myoclonus |
ORPHA:289266 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Cerebellar atrophy, Myoclonus, Cerebral atrophy |
OMIM:619060 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Fasciculations, Brain atrophy, Cerebral... |
OMIM:620327 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Spasticity, Myoclonus, Tetraparesis |
OMIM:618972 |
Arnold-Chiari Malformation Type I |
|
Myelopathy, Babinski sign, Vocal cord paralysis, Gait ataxia, Progressive cerebellar ataxia, Syri... |
ORPHA:268882 |
Familial Infantile Myoclonic Epilepsy |
|
Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Limb myoclonus |
ORPHA:352582 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
Developmental And Epileptic Encephalopathy 101 |
|
Myoclonus, Opisthotonus |
OMIM:619814 |
Mcleod Syndrome |
|
Chorea, Impaired vibration sensation at ankles |
OMIM:300842 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, Spastic paraplegia, Choreoathetosis, Spastic tetraplegia |
OMIM:612164 |
Rett Syndrome, Congenital Variant |
|
Athetosis, Chorea, Spasticity, Apraxia |
OMIM:613454 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Neurogenic bladder, Weakness due to upper motor neuron dysfunction, Progre... |
ORPHA:466722 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Rigidity, Myoclonus |
OMIM:300673 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ataxia, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration sensation, Babins... |
OMIM:607459 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls |
OMIM:184850 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Athetoid cerebral palsy |
ORPHA:522077 |
Fatal Familial Insomnia |
|
Neuronal loss in central nervous system, Ataxia, Myoclonus |
OMIM:600072 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Pontocerebellar Hypoplasia, Type 2E |
|
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Hypertonia, Myoclonus, S... |
OMIM:615851 |
Neuroblastoma, Susceptibility To, 1 |
|
Spinal cord compression, Ataxia, Myoclonus |
OMIM:256700 |
Gitelman Syndrome |
|
Polydipsia, Salt craving, Ataxia, Paralysis |
OMIM:263800 |
Porphyria, Acute Intermittent |
|
Respiratory paralysis, Paralysis |
OMIM:176000 |
Microcephaly, Amish Type |
|
Myoclonus, Limb hypertonia |
OMIM:607196 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Anaplastic Thyroid Carcinoma |
|
Vocal cord paralysis, Dysphagia |
ORPHA:142 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Inability to walk, Chorea, Tip-toe gait |
ORPHA:268 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Choreoathetosis, Paraparesis, Ataxia, Tetraparesis |
ORPHA:27 |
Posttransplant Acute Limbic Encephalitis |
|
Ataxia, Myoclonus |
ORPHA:163921 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Waddling gait, Somatic sensory dysfunction |
OMIM:158600 |
Galloway-Mowat Syndrome 10 |
|
Cerebellar atrophy, Myoclonus, Cerebral atrophy |
OMIM:619609 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Babinski sign, Limb tremor, Choreoathetosis, Athetosis... |
OMIM:608643 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Paralysis |
ORPHA:83601 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Exaggerated startle response, Incoordination, Tremor, Dysmetria, Clumsiness, ... |
ORPHA:845 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Vocal cord paresis, Gait ataxia |
OMIM:614895 |
Congenital Myopathy 15 |
|
Vocal cord paralysis |
OMIM:620161 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypertonia, Myoclonus, Global brain atrophy |
ORPHA:79096 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Axonal degeneration, Poor coordination, Neurodegeneration, Myoclonic spasms, Diffuse cerebellar a... |
ORPHA:478029 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Cerebral atrophy, Myoclonus, Spasticity, Cor... |
ORPHA:168491 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Neurogenic bladder, Cerebral cortical atrophy, Myoclonus |
OMIM:617669 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Myoclonus, Global brain atrophy |
OMIM:168601 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Cerebellar atrophy, Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Atrophy of... |
ORPHA:466768 |
Peho Syndrome |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Myoclonus |
OMIM:260565 |
Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements, ... |
OMIM:615273 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Myopathy, Myofibrillar, 2 |
|
Fasciculations |
OMIM:608810 |
Niemann-Pick Disease Type C |
|
Speech apraxia, Lower limb spasticity, Ataxia, Tremor, Chorea, Abnormal pyramidal sign, Clumsines... |
ORPHA:646 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Clonus, Involuntary movements, Opisthotonus, Myoclonus, Brain atrophy |
OMIM:620352 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Hypertonia, Myoclonus, Spastic tetraparesis |
ORPHA:284417 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Occipital cortical atrophy, Myoclonus |
ORPHA:411986 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Fasciculations |
ORPHA:1143 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Unilateral Polymicrogyria |
|
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... |
ORPHA:268943 |
Non-Functioning Paraganglioma |
|
Tremor, Vocal cord paralysis |
ORPHA:94080 |
Choreoacanthocytosis |
|
Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta... |
ORPHA:2388 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Neurogenic bladder, Ataxia, Tetraplegia, Fasciculations, Progressive spastici... |
ORPHA:496641 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Spasticity, Ataxia, Myoclonus, Abnormality of extrapyramidal motor function |
OMIM:614299 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Myoclonus, Right hemiplegia |
OMIM:607426 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Diffuse cerebral atrophy, Spastic diplegia, Opisthotonus, Ankle clonus, My... |
ORPHA:206436 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Tremor, Frequent falls, Parkinsonism, Fasciculations |
ORPHA:329478 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Truncal ataxia |
OMIM:618249 |
Spondyloenchondrodysplasia |
|
Chorea, Spasticity |
ORPHA:1855 |
Thyrotoxic Periodic Paralysis |
|
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis |
ORPHA:79102 |
Developmental And Epileptic Encephalopathy 100 |
|
Choreoathetosis, Chorea, Myoclonus, Gait ataxia |
OMIM:619777 |
Catastrophic Antiphospholipid Syndrome |
|
Chorea |
ORPHA:464343 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Cerebral cortical atrophy, Spasticity, Myoclonus |
ORPHA:309155 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Inability to walk, Chorea, Athetosis, Hyperkinetic movements, Myoclonus, Oculomotor apraxia, Acti... |
ORPHA:404454 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function, Myoclonus, Faci... |
OMIM:605711 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis |
ORPHA:37553 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Chorea, Gait ataxia, Hypertonia, Spasticity |
ORPHA:255210 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity |
ORPHA:2396 |
Developmental And Epileptic Encephalopathy 89 |
|
Cerebellar atrophy, Cerebral atrophy, Hypertonia, Hyperkinetic movements, Tetraparesis, Spasticity |
OMIM:619124 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Spasticity, Hypertonia, Myoclonus, Brain atrophy |
ORPHA:3078 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Vocal cord paresis, Frequent falls |
ORPHA:101097 |
Sialidosis Type 1 |
|
Tremor, Slurred speech, Ataxia, Myoclonus |
ORPHA:812 |
Postpoliomyelitis Syndrome |
|
Fasciculations |
ORPHA:2942 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Postural tremor, Action tremor, Gait ataxia, Myoclonus, Intention tremor |
OMIM:254900 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Myoclonus, Atrophy/Degeneration a... |
OMIM:614946 |
Neuraminidase Deficiency |
|
Slurred speech, Myoclonus, Dysmetria |
OMIM:256550 |
Juvenile Sialidosis Type 2 |
|
Lower limb spasticity, Ataxia, Dysmetria, Myoclonus, Spasticity |
ORPHA:93399 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Vocal cord paralysis |
OMIM:615490 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Impaired temperature sensation, Fasciculations, Spasticity,... |
OMIM:268800 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Spastic tetraplegia, Myoclonus, Cerebral atrophy |
OMIM:614462 |
D-Glyceric Aciduria |
|
Spastic tetraplegia, Opisthotonus, Myoclonus, Spasticity, Cerebral cortical atrophy |
OMIM:220120 |
Ataxia-Telangiectasia |
|
Ataxia, Female hypogonadism, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progress... |
OMIM:208900 |
Nmda Receptor Encephalitis |
|
Involuntary movements, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Myoclonus, Testicular ter... |
ORPHA:217253 |
African Trypanosomiasis |
|
Abnormal central motor function, Miscarriage, Involuntary movements, Aggressive behavior, Tremor,... |
ORPHA:3385 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Myoclonus |
ORPHA:168593 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Myoclonus |
OMIM:616158 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Vocal cord paralysis, Hyperkinetic movements, ... |
OMIM:617799 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Ataxia, Clonus, Babinski sign, Opisthotonus, Limb hypertonia, Myoclonus, Oculomotor apraxia, Spas... |
OMIM:618076 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:234200 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Myoclonus |
OMIM:560000 |
Glossopharyngeal Neuralgia |
|
Vocal cord paralysis, Oral-pharyngeal dysphagia |
ORPHA:221098 |
Pediatric-Onset Graves Disease |
|
Tremor, Hyperkinetic movements |
ORPHA:525731 |
Microcephaly-Capillary Malformation Syndrome |
|
Spastic tetraparesis, Myoclonus, Cerebral atrophy |
OMIM:614261 |
Neuroleptic Malignant Syndrome |
|
Tremor, Chorea, Extrapyramidal muscular rigidity |
ORPHA:94093 |
Sialuria |
|
Hyperkinetic movements |
ORPHA:3166 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Periodic hypokalemic paresis, Periodic paralysis |
OMIM:170390 |
Holoprosencephaly |
|
Cryptorchidism, Chorea, Spasticity |
ORPHA:2162 |
Distal Renal Tubular Acidosis |
|
Polydipsia, Paralysis |
ORPHA:18 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Vocal cord paralysis |
OMIM:605373 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Paralysis, Hypertonia, Myoclonus, Tetraparesis |
OMIM:203700 |
Serotonin Syndrome |
|
Clonus, Tremor, Rigidity, Hypertonia, Myoclonus |
ORPHA:43116 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Unilateral vocal cord paresis, Tethered cord, Spinal dysraphism |
OMIM:617660 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Babinski sign, Myoclonus, Spasticity |
ORPHA:364028 |
Lesch-Nyhan Syndrome |
|
Opisthotonus, Choreoathetosis, Abnormality of extrapyramidal motor function, Spasticity, Testicul... |
OMIM:300322 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Facial-lingual fasciculations, Spastic tetraplegia, Myoclonus, Spas... |
OMIM:617281 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Paralysis, Spastic paraplegia, Limb ataxia, Hypertonia, Abnormal temper tantrums, Oculomotor apraxia |
ORPHA:2072 |
Dystonia-Aphonia Syndrome |
|
Cerebellar atrophy, Myoclonus, Cerebral atrophy |
ORPHA:412217 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Spasticity, Myoclonus |
OMIM:612949 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Hypertonia, Myoclonus, Spasticity, Global brain atr... |
OMIM:618426 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Ataxia, Postural tremor, Babinski sign, Lower limb hypertonia, Myoclonus, Tru... |
OMIM:301072 |
Xeroderma Pigmentosum, Complementation Group A |
|
Choreoathetosis, Spasticity, Ataxia, Distal sensory impairment |
OMIM:278700 |
Menkes Disease |
|
Chorea, Hypertonia, Spasticity |
ORPHA:565 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Spasticity, Myoclonus |
OMIM:246450 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Myoclonus, Cerebral atrophy |
OMIM:620167 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Cerebral cortical atrophy, Tongue fasciculations, Myoclonus |
OMIM:614922 |
Congenital Sialidosis Type 2 |
|
Spasticity, Ataxia, Myoclonus, Dysmetria |
ORPHA:93400 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Cerebral atrophy, Choreoathetosis, Hypertonia, Hyperkinetic movements, Myoclonus |
ORPHA:17 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Ataxia, Tremor, Upper limb spasticity, Myoclonus, Spasticity, Global brain... |
OMIM:619229 |
Gitelman Syndrome |
|
Polydipsia, Salt craving, Paralysis |
ORPHA:358 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Pain insensitivity, Myoclonus, Brain atrophy |
ORPHA:251004 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vocal cord paralysis |
OMIM:168000 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Tremor, Ataxia, Myoclonus |
ORPHA:98794 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Vocal cord paralysis |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Vocal cord paralysis |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Vocal cord paralysis |
ORPHA:98853 |
Vici Syndrome |
|
Postnatal growth retardation, Abnormal posturing |
OMIM:242840 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Vocal cord paresis |
OMIM:601152 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... |
ORPHA:306674 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Vocal cord paralysis |
ORPHA:276621 |
Immunodeficiency 23 |
|
Somatic sensory dysfunction, Ataxia, Myoclonus, Cortical myoclonus |
OMIM:615816 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism |
ORPHA:8 |
Van Esch-O'Driscoll Syndrome |
|
Impulsivity, Unilateral vocal cord paralysis, Attention deficit hyperactivity disorder, Spasticit... |
OMIM:301030 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Myoclonus, Brain atrophy |
ORPHA:314655 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ataxia, Myoclonus |
OMIM:619167 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tremor, Poor fine motor coordination, Vocal cord paralysis |
ORPHA:99956 |
Orofaciodigital Syndrome Type 3 |
|
Oculomotor apraxia, Spasticity, Myoclonus |
ORPHA:2752 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, Ataxia, Spastic tetraplegia, Cerebral atrophy, Distal sensory impairment, Myoclonus,... |
OMIM:609136 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Abnormal pyramidal sign, Cerebral atrophy, Hypertonia, Hyperkinetic movements... |
ORPHA:468631 |
Igg4-Related Thyroid Disease |
|
Vocal cord paralysis, Dysphagia |
ORPHA:64744 |
Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Hyperactivity, Ataxia, Aggressive behavior, Hypersexuality, Abnormal pyramida... |
ORPHA:581 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Vocal cord paresis |
OMIM:606071 |
Angelman Syndrome |
|
Tremor, Ataxia, Cerebral cortical atrophy, Myoclonus |
ORPHA:72 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Orofaciodigital Syndrome Iii |
|
Myoclonus |
OMIM:258850 |
Scorpion Envenomation |
|
Hemifacial spasm, Ataxia, Tremor, Hyperkinetic movements, Paresthesia, Myoclonus |
ORPHA:466677 |
Opsoclonus-Myoclonus Syndrome |
|
Rigidity, Limb myoclonus, Ataxia, Myoclonus |
ORPHA:1183 |
Charcot-Marie-Tooth Disease Type 4C |
|
Gait ataxia, Tongue fasciculations, Head tremor, Facial paralysis, Vocal cord paresis, Frequent f... |
ORPHA:99949 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Oculomotor apraxia, Ataxia, Myoclonus |
ORPHA:247262 |
Fabry Disease |
|
Paresthesia, Fasciculations |
OMIM:301500 |
Whipple Disease |
|
Ataxia, Abnormal pyramidal sign, Myoclonus |
ORPHA:3452 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperkinetic movements, Myoclonic spasms |
ORPHA:73224 |
Brucellosis |
|
Orchitis, Chorea |
ORPHA:1304 |
Pineoblastoma |
|
Paralysis |
ORPHA:251909 |
Farber Disease |
|
Paraparesis, Spasticity, Myoclonus, Brain atrophy |
ORPHA:333 |
Primary Sjögren Syndrome |
|
Chorea, Somatic sensory dysfunction |
ORPHA:289390 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Vocal cord paralysis |
ORPHA:29072 |
9P13 Microdeletion Syndrome |
|
Myoclonus, Hand tremor |
ORPHA:324313 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility |
ORPHA:99429 |
Systemic Lupus Erythematosus |
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Chorea |
ORPHA:536 |
Lafora Disease |
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Ataxia, Myoclonus, Brain atrophy, Erratic myoclonus, Spasticity |
ORPHA:501 |
Osteopetrosis, Autosomal Recessive 3 |
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Periodic hypokalemic paresis |
OMIM:259730 |
Melas |
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Abnormal central motor function, Ataxia, Hemiparesis, Myoclonus, Brain atrophy, Cerebral cortical... |
ORPHA:550 |
Early Infantile Epileptic Encephalopathy |
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Cerebellar atrophy, Diffuse cerebral atrophy, Tremor, Choreoathetosis, Myoclonus, Episodic ataxia... |
ORPHA:1934 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
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Spastic tetraplegia, Clonus, Myoclonus |
OMIM:619055 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Spasticity, Ataxia, Myoclonus, Spastic hemiparesis |
ORPHA:20 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
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Myoclonus |
ORPHA:1352 |
Myoclonic Epilepsy Of Lafora |
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Myoclonus, Apraxia |
OMIM:254780 |
Woodhouse-Sakati Syndrome |
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Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, C... |
OMIM:241080 |
Tyrosinemia, Type I |
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Periodic paralysis |
OMIM:276700 |
Esophageal Atresia |
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Oral aversion, Vocal cord paresis, Hypertonia, Dysphagia |
ORPHA:1199 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
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Neurogenic bladder, Cerebral palsy, Myoclonus, Hemiplegia, Global brain atrophy, Limb hypertonia |
OMIM:616973 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
Partial Androgen Insensitivity Syndrome |
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Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
Aromatase Deficiency |
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Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Pgm3-Cdg |
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Ataxia, Myoclonus, Cortical myoclonus |
ORPHA:443811 |
Developmental And Epileptic Encephalopathy 2 |
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Myoclonus |
OMIM:300672 |
Tsh-Secreting Pituitary Adenoma |
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Tremor, Periodic hypokalemic paresis |
ORPHA:91347 |
Ethylene Glycol Poisoning |
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Slurred speech, Ataxia, Myoclonus |
ORPHA:31826 |
Lathosterolosis |
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Myoclonus, Cerebellar cortical atrophy |
ORPHA:46059 |
Schinzel-Giedion Syndrome |
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Spasticity, Hypertonia, Vocal cord paralysis, Dysphagia |
ORPHA:798 |
Kinsship Syndrome |
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Spastic tetraparesis, Myoclonus, Brain atrophy |
OMIM:619297 |
Degcags Syndrome |
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Vocal cord paralysis, Oral-pharyngeal dysphagia, Choking episodes |
OMIM:619488 |
46,Xy Partial Gonadal Dysgenesis |
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Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
Pontocerebellar Hypoplasia Type 7 |
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Involuntary movements, Hypertonia, Myoclonus, Fasciculations, Spasticity |
ORPHA:284339 |
Listeriosis |
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Somatic sensory dysfunction, Ataxia, Tremor, Hemiparesis, Myoclonus |
ORPHA:533 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
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Unilateral vocal cord paralysis |
ORPHA:324540 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Tetraplegia, Myoclonus, Brain atrophy |
OMIM:618278 |
Codas Syndrome |
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Vocal cord paresis |
OMIM:600373 |
X-Linked Intellectual Disability, Snyder Type |
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Involuntary movements, Myoclonus |
ORPHA:3063 |
Feingold Syndrome 1 |
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Vocal cord paralysis |
OMIM:164280 |
Williams-Beuren Syndrome |
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Incoordination, Poor coordination, Vocal cord paralysis, Attention deficit hyperactivity disorder... |
OMIM:194050 |
Cortical Dysplasia, Complex, With Other Brain Malformations 13 |
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Waddling gait, Tip-toe gait, Gait disturbance, Spastic tetraplegia |
OMIM:614563 |
Neutral Lipid Storage Myopathy |
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Fasciculations |
ORPHA:98908 |
Doors Syndrome |
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Spina bifida occulta, Myoclonus |
ORPHA:79500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Spasticity, Myoclonus |
OMIM:253280 |
Crimean-Congo Hemorrhagic Fever |
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Fasciculations |
ORPHA:99827 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response, Involuntary movements, Myoclonus |
ORPHA:438213 |