Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

Name:
glycine receptor, alpha 1 subunit
Synonyms:
nmf11,  ot,  B230397M16Rik,  oscillator

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Glra1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Glra1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Glra1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nondisjunction
Decreased fertility OMIM:158250
Hyperekplexia 3
Hypertonia, Exaggerated startle response OMIM:614618
Developmental And Epileptic Encephalopathy 8
Hypertonia, Exaggerated startle response OMIM:300607
Optic Atrophy 2
Babinski sign, Tremor, Dysdiadochokinesis OMIM:311050
Neuropathy, Hereditary Sensory, Atypical
Babinski sign, Sensory ataxia, Ataxia OMIM:256860
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with vestibular features, Focal sensory seizure with cephalic sensation, De... OMIM:600512
Tremor, Hereditary Essential, 6
Kinetic tremor, Head tremor, Vocal tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Postural tremor, Tongue tremor, Intention tremor OMIM:616736
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Spastic tetraparesis, Hypertonia, Fasciculations, Lower limb spasticity,... OMIM:618598
Spastic Ataxia With Congenital Miosis
Hemiplegia/hemiparesis, Seizure, Ataxia, Spastic ataxia ORPHA:1182
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Epilepsy, Familial Temporal Lobe, 5
Focal impaired awareness seizure, Visually-induced seizure, Focal aware seizure, Bilateral tonic-... OMIM:614417
Endometriosis, Susceptibility To, 1
Endometriosis, Decreased fertility, Dysmenorrhea OMIM:131200
Posterior Column Ataxia
Ataxia, Impaired proprioception, Impaired vibratory sensation OMIM:176250
Hyperekplexia 2
Hypertonia, Myoclonus, Exaggerated startle response OMIM:614619
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Gait disturbance, Abnormality ... OMIM:614561
Spinocerebellar Ataxia Type 4
Impaired proprioception, Impaired vibratory sensation, Impaired tactile sensation, Ataxia, Gait d... ORPHA:98765
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Atonic seizure, Generalized myoclonic seizure, Babinski sign, Tremor OMIM:612437
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure, Bilateral tonic-clonic seizure, Focal sensory seizure with visual features... OMIM:615400
Developmental And Epileptic Encephalopathy 32
Seizure, Ataxia, Myoclonus, Tremor OMIM:616366
Epilepsy, Familial Temporal Lobe, 8
Deja vu aura, Focal aware cognitive seizure with forced thinking, Bilateral tonic-clonic seizure ... OMIM:616461
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Hyperekplexia-Epilepsy Syndrome
Hypertonia, Exaggerated startle response ORPHA:163985
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Seizure, Hyperkinetic movements, Tremor OMIM:616921
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Hand tremor, Somatic sensory dysfunction, Steppage gait OMIM:300905
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Dystonia 31
Parkinsonism, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Abnormal posturing, Diff... OMIM:619565
Intellectual Developmental Disorder, Autosomal Recessive 6
Dystonia, Involuntary movements, Seizure, Myoclonus, Tremor OMIM:611092
Glutathionuria
Tremor OMIM:231950
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Bilateral tonic-clonic seizure, Hyperkinetic movements, Tr... OMIM:618425
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Ataxia, Abasia OMIM:209100
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Seizure, Ataxia, Slender build OMIM:617709
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Limb ataxia, Tremor OMIM:617018
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus ORPHA:22
Epilepsy, Progressive Myoclonic 7
Seizure, Ataxia, Myoclonus, Tremor OMIM:616187
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Impaired vibratory sensation, Tremor ORPHA:217012
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Developmental And Epileptic Encephalopathy 68
Spasticity, Clonus, Myoclonus, Exaggerated startle response OMIM:618201
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Febrile Seizures, Familial, 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609253
Developmental And Epileptic Encephalopathy 9
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizur... OMIM:300088
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Ataxia, Tremor OMIM:615945
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Morning myoclonic jerks, Status epilepticus, Generalized non-moto... OMIM:254770
Episodic Ataxia, Type 8
Episodic ataxia, Ataxia, Slurred speech, Intention tremor OMIM:616055
Spinocerebellar Ataxia Type 38
Gait ataxia, Somatic sensory dysfunction, Difficulty walking, Tremor ORPHA:423296
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... OMIM:604403
Cerebellar Ataxia, Cayman Type
Intention tremor, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait ORPHA:94122
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Postural tremor, Difficulty walking ORPHA:85292
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Spasticity, Seizure, Status epilepticus, Tremor OMIM:614307
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Status epilepticus OMIM:613721
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... OMIM:616172
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Nocturnal seizures OMIM:117100
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Ataxia, Difficulty walking, Generalized non-motor (absence) seizure, Seizure, Myo... OMIM:614018
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... OMIM:613863
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Febrile ... OMIM:604233
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Seizure, Myoclonus OMIM:615127
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Unsteady gait, Axial hypotonia, Chorea, Tremor ORPHA:494526
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Febrile seizu... OMIM:605021
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized myoclonic seizure, Tremor, Ataxia, Gait ataxia, Generalized non-motor (absence) seizu... OMIM:617831
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:618357
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal ... OMIM:616056
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Ataxia, Tremor OMIM:611105
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Seizure, Ataxia OMIM:619061
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Generalized non-motor (absence) seizure, Ataxia, Tremor OMIM:616421
Cerebellar Ataxia, Cayman Type
Intention tremor, Gait ataxia, Generalized hypotonia, Hypotonia, Broad-based gait OMIM:601238
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Lower limb spasticity, Babinski sign ORPHA:401840
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Myoclonus OMIM:616230
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Myoclonus, Familial, 1
Frequent falls, Falls, Ataxia, Myoclonus OMIM:614937
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Hypsarrhythmia, Hypotonia, Tremor OMIM:619561
Progressive Myoclonic Epilepsy Type 1
Intention tremor, Ataxia, Limb ataxia, Morning myoclonic jerks, Myoclonus ORPHA:308
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Spastic tetraplegia, Hyperactivity, Inability to walk, Generalized hypotonia, Hypotonia, Babinski... OMIM:616657
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Cogwheel rigidity, Gait disturbance, Dysdiadochokinesis, Limb dysmet... ORPHA:363710
Paroxysmal Non-Kinesigenic Dyskinesia
Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Dyspnea, Rigidity, Chorea, Tortico... ORPHA:98810
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spinocerebellar Ataxia Type 23
Dysmetria, Impaired proprioception, Gait ataxia, Progressive cerebellar ataxia, Impaired distal v... ORPHA:101108
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Infantile Spasms Syndrome
Myoclonus, Hypsarrhythmia ORPHA:3451
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607628
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile seizure (within the age range of 3 months to 6 years), Febrile statu... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... OMIM:613060
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor OMIM:158580
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Spasticity, Exaggerated startle response OMIM:618367
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Alternating Hemiplegia Of Childhood 2
Dystonia, Choreoathetosis, Ataxia, Episodic quadriplegia, Tetraplegia, Hemiplegia, Seizure, Statu... OMIM:614820
Seizures, Benign Familial Neonatal, 1
Bilateral tonic-clonic seizure, Focal clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Benign Familial Infantile Epilepsy
Focal motor seizure, Bilateral tonic-clonic seizure with focal onset, Focal clonic seizure, Focal... ORPHA:306
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Hyperekplexia 1
Hypertonia, Frequent falls, Myoclonus, Exaggerated startle response OMIM:149400
Developmental And Epileptic Encephalopathy 94
Tonic seizure, Atonic seizure, Visually-induced seizure, Generalized myoclonic seizure, Febrile s... OMIM:615369
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Tremor, Gait disturbance OMIM:300660
Developmental And Epileptic Encephalopathy 38
Dystonia, Ataxia, Status epilepticus, Hypertonia OMIM:617020
Gm2-Gangliosidosis, Ab Variant
Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Dystonia, Chorea, Exaggerated startle r... OMIM:272750
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Lichtenstein-Knorr Syndrome
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Spinocerebellar Ataxia, Autosomal Recessive 17
Truncal ataxia, Dysmetria, Unsteady gait, Tremor OMIM:616127
Migraine, Familial Hemiplegic, 1
Ataxia, Hemiplegia, Hemiparesis, Seizure, Tremor OMIM:141500
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Ataxia, Spasticity, Infantile spasms, Tremor OMIM:278780
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Generalized myoclonic seizure, Inability to walk, Rigidity, Gait disturbance, Seizure,... OMIM:618090
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Progressive extrapyramidal movement disorder, Seizure, Myoclonus, Hypertonia OMIM:612736
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal aware seizure, Febrile seizure (within the... OMIM:615697
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:101046
Epilepsy, Juvenile Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607631
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus OMIM:208700
Dravet Syndrome
Myoclonic seizure, Atonic seizure, Focal hemiclonic seizure, Visually-induced seizure, Generalize... OMIM:607208
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Lower ... ORPHA:98811
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Focal-onset seizure, Paroxysmal dystonia, Seizure, Writer's cram... OMIM:608105
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Seizure, Ataxia ORPHA:85338
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... OMIM:607317
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Abnormality of extrapyramidal motor function, Babinski sign, Seizure, Myoclonus, Tremor OMIM:615362
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure on awakening, Morning myoclonic jerks, Generalized non-motor (abse... OMIM:607682
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Bradykinesia, Rigidity, Spastici... OMIM:615528
Spastic Paraparesis And Deafness
Spastic paraparesis, Hypogonadism, Tremor OMIM:312910
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:609800
Gm2 Gangliosidosis, Ab Variant
Abnormal pyramidal sign, Dystonia, Chorea, Exaggerated startle response, Progressive spastic quad... ORPHA:309246
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, EEG with photoparoxysmal response, Enhancement of the C-reflex, ... OMIM:613608
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Impaired proprioception, Spastic dysarthria, Spastic parapleg... ORPHA:251282
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617643
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Ankle clonus, Babinski sign, Spastic paraplegia, Exaggerated startle response OMIM:609541
Autosomal Spastic Paraplegia Type 72
Rigidity, Impaired vibration sensation at ankles, Spastic gait, Postural tremor ORPHA:401849
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Spinocerebellar Ataxia, Autosomal Recessive 16
Ankle clonus, Unsteady gait, Spasticity, Limb ataxia, Truncal ataxia, Babinski sign, Hypogonadism... OMIM:615768
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Somatic sensory dysfunction, Impaired proprioception, Fasciculations, Un... ORPHA:95434
Spinocerebellar Ataxia 23
Dysmetria, Impaired vibration sensation in the lower limbs, Gait ataxia, Limb ataxia, Babinski si... OMIM:610245
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Tremor, Gait ata... OMIM:618587
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... ORPHA:101110
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Impaired ... OMIM:128230
Spinocerebellar Ataxia Type 35
Dysmetria, Intention tremor, Progressive cerebellar ataxia, Gait ataxia, Torticollis, Limb ataxia... ORPHA:276193
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized hypotonia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:168100
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Progressive spastic paraplegia, Abnormality of extrapyramidal motor function, Exaggerated startle... ORPHA:320406
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Epilepsy, Pyridoxine-Dependent
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus OMIM:266100
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, EEG wit... OMIM:601068
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Gait ataxia, Progressive cerebellar ataxia, Rigidity, Limb ataxia, M... ORPHA:98763
Developmental And Epileptic Encephalopathy 43
Generalized hypotonia, Hyperactivity, Ataxia OMIM:617113
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Action tremor, Intention tremor, Spastic dysarthria, Unsteady gait, Nonprogressiv... ORPHA:314978
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Ataxia OMIM:617769
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Spinocerebellar Ataxia 35
Incoordination, Dysmetria, Intention tremor, Ataxia, Torticollis, Babinski sign, Difficulty walking OMIM:613908
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Lower limb spasticity, Impaired vibration sensation in the lower limbs, Spastic par... OMIM:600363
Spinocerebellar Ataxia 18
Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Epilepsy, Progressive Myoclonic, 11
Intention tremor, Ataxia, Rigidity, Seizure, Myoclonus OMIM:618876
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Dysmetria, Intention tremor, Lower limb spasticity, Ataxia, Unsteady gai... OMIM:616948
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Fasciculations, Respiratory insu... OMIM:602099
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Distal sensory impairment, Tremor OMIM:615048
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Seizure, Ataxia, Tremor OMIM:618951
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Seizure, Myoclonus, Tremor OMIM:615924
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:1941
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Spastic paraparesis, Unsteady gait, Dysdiadochokinesis, Broad-based ... OMIM:616053
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Spastic paraparesis, Unsteady gait, Gait ataxia, Dysdiadochokinesis,... ORPHA:423275
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal impai... OMIM:245570
Episodic Ataxia, Type 9
Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Seizure, Status epilepticus OMIM:618924
Monomelic Amyotrophy
Fasciculations, Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction, ... ORPHA:65684
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Stiff Person Spectrum Disorder
Rigidity, Exaggerated startle response ORPHA:3198
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Action tremor, Parkinsonism, Intention tremor, Bradykinesia, Ataxia, Uns... ORPHA:98762
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Tremor, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia, Broa... OMIM:270500
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Ataxia, Spasticity, Premature ovarian insufficiency, Tremor OMIM:615889
Tay-Sachs Disease
Hypertonia, Exaggerated startle response OMIM:272800
Spinocerebellar Ataxia 48
Dysmetria, Parkinsonism, Dystonia, Ataxia, Gait ataxia, Chorea, Cachexia, Bilateral tonic-clonic ... OMIM:618093
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Dentatorubral-Pallidoluysian Atrophy
Abnormal pyramidal sign, Choreoathetosis, Ataxia, Chorea, Seizure, Myoclonus OMIM:125370
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Seizure, Ataxia, Tremor OMIM:617862
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Small for gestational age, Bradykinesia, Ata... OMIM:261640
Continuous Spikes And Waves During Sleep
Atypical absence seizure, Atonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Fo... ORPHA:725
Intellectual Developmental Disorder, Autosomal Recessive 37
Generalized hypotonia, Hyperactivity, Spasticity, Hypotonia OMIM:615493
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Myoclonic absence seizure, Generalized myoclonic seizure, Bradykinesia, Ataxia, Rigidit... OMIM:617836
Aromatic L-Amino Acid Decarboxylase Deficiency
Choreoathetosis, Oculogyric crisis, Blepharospasm, Limb hypertonia, Athetosis, Limb dystonia, Ton... OMIM:608643
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Spastic paraplegia, Pa... ORPHA:53583
Developmental And Epileptic Encephalopathy 40
Spasticity, Choreoathetosis, Myoclonus, Hypsarrhythmia OMIM:617065
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Leukodystrophy, Hypomyelinating, 16
Abnormal pyramidal sign, Dysmetria, Dystonia, Intention tremor, Gait ataxia, Seizure, Broad-based... OMIM:617964
Spinocerebellar Ataxia 19
Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Postu... OMIM:607346
Dystonia 23
Axial dystonia, Head tremor, Limb dystonia, Gait disturbance, Torticollis, Writer's cramp, Myoclonus OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Intention tremor, Fasciculations, Gait ataxia, Limb ataxia, Truncal ataxia OMIM:613728
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Corticobasal Syndrome
Somatic sensory dysfunction, Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Limb ap... ORPHA:454887
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Dystonia, Myoclonus, Tremor OMIM:619651
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity, Hypotonia DECIPHER:20
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Ataxia, Unsteady gait, Gait ataxia, Spasticity, Limb ataxia, Tremor OMIM:213200
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus, Tremor OMIM:612016
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Spinocerebellar Ataxia, X-Linked 4
Abnormal pyramidal sign, Ataxia, Tremor OMIM:301840
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Generalized myoclonic seizure,... ORPHA:101039
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Dysmetria, Intention tremor, Progressive cerebellar ataxia, Spasticity, Progressive gait ataxia, ... ORPHA:284332
Behr Syndrome
Dysmetria, Ataxia, Progressive spasticity, Gait disturbance, Babinski sign, Tremor OMIM:210000
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Generalized myoclonic seizure... OMIM:611726
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait OMIM:616410
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:600116
Isolated Focal Cortical Dysplasia
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:65683
Dystonia 6, Torsion
Torsion dystonia, Limb dystonia, Laryngeal dystonia, Torticollis, Lingual dystonia, Writer's cram... OMIM:602629
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Developmental And Epileptic Encephalopathy 69
EEG abnormality, Spastic tetraplegia, Hyperkinetic movements, Myoclonus, Hypsarrhythmia OMIM:618285
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Involuntary movements, Ataxia, Craniofacial dystonia, Spasticity, Chorea, Gait disturba... OMIM:617282
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Focal atonic ... ORPHA:101071
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Lower limb spasticity, Ataxia, Impaired tandem gait, Bilateral tonic-clonic seizure wi... OMIM:619028
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... OMIM:607671
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Action tremor, Poor coordination, Ataxia, Broad-based gait, Focal motor seizur... OMIM:617665
Stiff-Person Syndrome
Frequent falls, Opisthotonus, Myoclonic spasms, Rigidity, Exaggerated startle response OMIM:184850
Seizures, Benign Familial Infantile, 1
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:601764
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Seizure, Myoclonus, Hypertonia OMIM:261630
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Obesity, Ataxia, Unsteady gait, Seizure, Tremor OMIM:614947
Leukodystrophy, Hypomyelinating, 11
Ataxia, Failure to thrive, Spasticity, Myoclonus, Tremor OMIM:616494
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Parkinsonism, Ataxia, Abnormality of extrapyramidal motor function, Seizure, Myoclonus OMIM:162350
Spinocerebellar Ataxia 12
Dysmetria, Parkinsonism, Action tremor, Axial dystonia, Head tremor, Progressive cerebellar ataxi... OMIM:604326
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Spastic paraplegia, Postural tremor, Gait di... ORPHA:100988
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Tremor, Generalized hypotonia, Hypotonia, Torticollis, Writer's ... OMIM:128100
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Gen... ORPHA:2382
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Fasciculations, Bradykinesia, Ataxia, Decreased nerve conduction velocity, Rigidity, Spasticity OMIM:183050
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Ataxia, Steppage gait, Gait ataxia, Distal sensory impairment, Tremor OMIM:618387
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Bilateral tonic-clonic seizure, Seizure precipitated by febrile infection, Status epilepticus wit... ORPHA:363549
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Developmental And Epileptic Encephalopathy 34
Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, S... OMIM:616645
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Paroxysmal dyskinesia, Falls, Poor coordination, Focal-onset seizure, Ataxia, Chorea, S... OMIM:619150
Spinocerebellar Ataxia, Autosomal Recessive 6
Dysmetria, Intention tremor, Ataxia, Gait ataxia, Spasticity, Clumsiness OMIM:608029
Spinocerebellar Ataxia Type 28
Kinetic tremor, Parkinsonism, Dystonia, Head tremor, Limb dystonia, Gait ataxia, Rigidity, Spasti... ORPHA:101109
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Seizure OMIM:601217
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus, Focal-onset seizure, Generalized-onset seizure ORPHA:86814
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Parkinsonism, Dystonia, Bradykinesia, Tremor, Spasticity, Scissor gait, Loss of amb... ORPHA:521406
Urocanic Aciduria
Action tremor, Ataxia, Gait ataxia, Truncal ataxia, Broad-based gait ORPHA:210128
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Bradykinesia, Limb dystonia, Torticollis, Postural tremor ORPHA:210571
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Tremor OMIM:619099
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Developmental And Epileptic Encephalopathy 37
Choreoathetosis, Rigidity, Spasticity, Hyperkinetic movements, Myoclonus OMIM:616981
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Parkinsonism, Apraxia, Falls, Bradykinesia, Impaired tandem gait, Rigidity, Spasti... OMIM:300423
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Atonic seizure, Generalized-onset seizure, Generalized myoclonic seizure, Tremor,... ORPHA:36387
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Resting tremor, Gait disturbance OMIM:616710
Epilepsy, Early-Onset, Vitamin B6-Dependent
Respiratory insufficiency, Clonus, Apnea, Myoclonus, Hypertonia OMIM:617290
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Ataxia, Spasticity, Oculomotor apraxia, Seizure, Tremor OMIM:612716
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Short stepped shuffling gait, Resting tremor, Shuffling gait, Bradykinesia, Rigidit... ORPHA:306692
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Short stepped shuffling gait, Resting tremor, Shuffling gait, Dystonia, ... ORPHA:391411
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Dysmetria, Impaired vibratory sensation, Oculomotor apraxia, Progressive cerebellar ataxia, Progr... ORPHA:284324
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Primary Dystonia, Dyt2 Type
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... ORPHA:99657
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Limb tremor, Babinski sign, ... ORPHA:401820
Developmental And Epileptic Encephalopathy 92
Dystonia, Inability to walk, Ataxia, Spasticity, Seizure, Myoclonus, Difficulty walking OMIM:617829
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... ORPHA:216873
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Gait disturbance, Tremor ORPHA:101075
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity, Fasciculations, Inability to walk, Impaired distal vi... ORPHA:276435
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonus, Dystonia, Choreoathetosis, Hyperkinetic movements OMIM:618497
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity, Hypotonia ORPHA:356996
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Frequent falls, Atonic seizure, Waddling gait, Generalized myoclonic seizure, I... ORPHA:2590
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Gait ataxia, Babinski sign, Limb ataxia, Clumsiness, Postur... OMIM:609270
Huntington Disease-Like 2
Action tremor, Dystonia, Bradykinesia, Rigidity, Chorea, Weight loss OMIM:606438
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Dystonia, Ataxia, Gait disturbance, Gait ataxia, Limb ataxia,... OMIM:617145
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Rigidity, Tremor OMIM:614203
Familial Focal Epilepsy With Variable Foci
Deja vu aura, Focal-onset seizure, Focal aware seizure, Focal impaired awareness seizure, Nocturn... ORPHA:98820
Classic Pantothenate Kinase-Associated Neurodegeneration
Frequent falls, Opisthotonus, Generalized dystonia, Inability to walk, Tip-toe gait, Spasticity, ... ORPHA:216866
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:607745
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Bilateral tonic-clonic seiz... OMIM:619605
Ceroid Lipofuscinosis, Neuronal, 8
EEG abnormality, Ataxia, Myoclonus OMIM:600143
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Postural tremor, Rigidity, Gait disturbance, Babinski sign, Parkinsonism ... ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Ataxia, Gait ataxia, Distal sensory impairment, Spasticity, Tremor OMIM:616719
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Atonic seizure, Apraxia, Inability to walk, Gait ataxia, Spasticity, Generalized non-m... OMIM:617810
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Seizure, Atonic seizure OMIM:309530
Leukodystrophy, Hypomyelinating, 9
Dysmetria, Intention tremor, Ataxia, Spasticity, Abnormality of extrapyramidal motor function OMIM:616140
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Lissencephaly 10
Atypical absence seizure, Tonic seizure, Myoclonic seizure, Atonic seizure, Generalized-onset sei... OMIM:618873
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Paroxysmal choreoathetosis, Frequent falls, Poor motor coordination, Clonus, Chor... OMIM:500003
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Fasciculations ORPHA:85162
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Gait ataxia, Limb ataxia, Seizure ORPHA:404499
Sporadic Infantile Bilateral Striatal Necrosis
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Gait ataxia, Hemiplegia, Progressive extrap... ORPHA:225147
Rapid-Onset Dystonia-Parkinsonism
Parkinsonism, Resting tremor, Bradykinesia, Craniofacial dystonia, Limb dystonia, Gait ataxia, To... ORPHA:71517
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Febrile seizure (within the age range of 3 months to 6 years), Failure to thr... ORPHA:477673
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Dysmetria, Inability to walk, Ataxia, Gait ataxia, Dysdiadochokinesis, S... OMIM:614831
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Bradykinesia, Tre... OMIM:613135
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Baker-Gordon Syndrome
EEG abnormality, Choreoathetosis, Sleep apnea, Involuntary movements, Ataxia, Hyperkinetic movements OMIM:618218
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Diaminopentanuria
Spasticity, Seizure, Ataxia OMIM:222350
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Frequent falls, Dysmetria, Dystonia, Intention tremor, Unsteady gait, Gait ataxia, Truncal ataxia... ORPHA:453521
Aicardi-Goutieres Syndrome 6
Loss of ability to walk, Rigidity, Dystonia, Tremor OMIM:615010
Glut1 Deficiency Syndrome 2
EEG abnormality, Dystonia, Choreoathetosis, Ataxia, Tremor OMIM:612126
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Abnormal pyramidal sign, Impaired proprioception, Spastic dysarthria, Head tremor, Lower limb spa... ORPHA:352641
Atypical Rett Syndrome
EEG abnormality, Dystonia, Abnormal muscle tone, Pill-rolling tremor, Loss of ability to walk, In... ORPHA:3095
Myoclonus-Dystonia Syndrome
Dystonia, Limb myoclonus, Spinal myoclonus, Torticollis, Writer's cramp, Myoclonus ORPHA:36899
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Failure to thrive in infancy, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, My... OMIM:619065
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations OMIM:182980
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Dysmetria, Frequent falls, Involuntary movements, Bradykinesia, ... ORPHA:157941
Leukodystrophy, Hypomyelinating, 6
Dystonia, Choreoathetosis, Ataxia, Rigidity, Spasticity, Seizure, Tremor OMIM:612438
X-Linked Intellectual Disability, Hedera Type
Action tremor, Dysmetria, Atonic seizure, Frequent falls, Apraxia, Extrapyramidal muscular rigidi... ORPHA:93952
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Ataxia, Decreased nerve conduction velocity, Gait disturbance, Tremor ORPHA:101078
Asparagine Synthetase Deficiency
Spastic tetraplegia, Exaggerated startle response OMIM:615574
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:254800
Myoclonic Epilepsy Of Infancy
Photosensitive tonic-clonic seizure, Generalized myoclonic seizure, Febrile seizure (within the a... ORPHA:86909
Spastic Paraplegia 78, Autosomal Recessive
Abnormal pyramidal sign, Parkinsonism, Resting tremor, Impaired vibratory sensation, Impaired tac... OMIM:617225
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Dystonia, Oculogyric crisis, Spasticity, Chorea, Hyperkinetic movements, Myoclonus OMIM:614254
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Blephar... OMIM:607876
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia, Seizure, Myoclonus, Tremor ORPHA:139485
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Hyperactivity, Hypotonia, Broad-based gait, Tremor OMIM:619470
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Extrapyramidal dyskinesia, Choreoathetosis, EEG abnormality, Apraxia, Ataxia, Spastici... ORPHA:71277
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal-onset seizure ORPHA:163721
Dystonia 12
Parkinsonism, Dystonia, Bradykinesia, Unsteady gait, Torticollis, Tremor OMIM:128235
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Intellectual Developmental Disorder, Autosomal Dominant 52
Generalized hypotonia, Hyperactivity OMIM:617796
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Spastic paraparesis, Inability to walk, Decreased motor nerve conduc... ORPHA:101077
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Limb dystonia, Vocal tremor, Torticollis, Upper limb postural tremor,... ORPHA:420485
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Somatic sensory dysfunction, Focal dystonia, Apraxia, In... ORPHA:240103
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Clonus, Nonprogressive cerebellar ataxia, Dysdiadochokinesis, Babins... OMIM:301310
Spermatogenic Failure 63
Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619528
X-Linked Charcot-Marie-Tooth Disease Type 6
Hand tremor, Impaired vibration sensation in the lower limbs, Decreased nerve conduction velocity... ORPHA:352675
Autosomal Spastic Paraplegia Type 58
Abnormal pyramidal sign, Dysmetria, Frequent falls, Titubation, Intention tremor, Fasciculations,... ORPHA:397946
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Limb fasciculations, Abnormal peripheral action potential amplitude,... ORPHA:90117
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Tonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Epileptic spasm, ... OMIM:619606
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo... OMIM:619157
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic gait, Dystonia, Lower limb spasticity, Spastic paraplegia, Ataxia, Impaired vibration sen... OMIM:607565
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia, Hypotonia OMIM:613402
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Oculogyric crisis, Generalized myoclonic seizure, Tremor, Focal-onset seizure, Inabilit... ORPHA:330050
Spinocerebellar Ataxia 15
Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Paroxysmal Kinesigenic Dyskinesia
Focal sensory seizure, Dystonia, Involuntary movements, Athetosis, Chorea, Seizure, Writer's cramp ORPHA:98809
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:79137
Amyotrophic Lateral Sclerosis 1
Fasciculations, Sleep apnea, Degeneration of anterior horn cells, Spasticity, Amyotrophic lateral... OMIM:105400
Dentatorubral Pallidoluysian Atrophy
Dysmetria, Action tremor, Choreoathetosis, Impaired proprioception, Blepharospasm, Involuntary mo... ORPHA:101
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Dystonia 24
Torticollis, Blepharospasm, Head tremor, Oromandibular dystonia OMIM:615034
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Parkinsonism, Dystonia, Oculogyric crisis, Bradykinesia, Limb hypertonia, Generalized hypotonia, ... OMIM:617384
Hyperlysinemia, Type I
Hyperactivity, Hypotonia OMIM:238700
Urocanase Deficiency
Ataxia, Tremor OMIM:276880
Spinocerebellar Ataxia 29
Dysmetria, Intention tremor, Gait ataxia, Impaired tandem gait, Limb ataxia, Nonprogressive cereb... OMIM:117360
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Steppage gait, Decreased sensory nerve conduction velocity, Decreased motor nerve con... OMIM:609260
Juvenile Huntington Disease
Dystonia, Oral motor hypotonia, Hyperactivity, Bradykinesia, Ataxia, Progressive cerebellar ataxi... ORPHA:248111
Episodic Ataxia, Type 5
Atypical absence seizure, Typical absence seizure, Febrile seizure (within the age range of 3 mon... OMIM:613855
Tay-Sachs Disease
Incoordination, Dysmetria, Dystonia, Frequent falls, Decerebrate rigidity, Fasciculations, Tremor... ORPHA:845
Spinocerebellar Ataxia 7
Dysmetria, Progressive cerebellar ataxia, Spasticity, Chorea, Babinski sign, Abnormality of extra... OMIM:164500
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Generalized-onset seizure, Fasciculations, Generalized myoclonic seizure, Tongue ... OMIM:159950
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Decreased nerve conduction velocity, Hypertonia ORPHA:1368
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Frequent falls, Intention tremor, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:512260
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Seizure, Ataxia, Slurred speech ORPHA:972
Ceroid Lipofuscinosis, Neuronal, 2
Abnormal nervous system electrophysiology, Ataxia, Myoclonus OMIM:204500
Dystonia 15, Myoclonic
Dystonia, Writer's cramp, Myoclonus OMIM:607488
Cln5 Disease
EEG with generalized slow activity, Dysmetria, Abnormality of visual evoked potentials, Inability... ORPHA:228360
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Oligospermia ORPHA:1646
Sandhoff Disease
Fasciculations, Ataxia, Upper motor neuron dysfunction, Spasticity, Exaggerated startle response OMIM:268800
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, Tremor, Frequent falls, Upper motor neuron dysfunction, ... ORPHA:206443
Familial Dyskinesia And Facial Myokymia
Dystonia, Resting tremor, Limb hypertonia, Chorea, Difficulty walking, Myoclonus ORPHA:324588
Pelizaeus-Merzbacher Disease, Classic Form
Abnormality of somatosensory evoked potentials, Spastic tetraparesis, Abnormal pyramidal sign, Dy... ORPHA:280219
Myopathy, Spheroid Body
Waddling gait, Broad-based gait, Tremor OMIM:182920
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Athetosis, Gait disturbance, Rigid... OMIM:213600
Glut1 Deficiency Syndrome 1
Paralysis, EEG abnormality, Choreoathetosis, Ataxia, Spasticity, Hemiparesis, Babinski sign, Myoc... OMIM:606777
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal sensory impairment, Tremor OMIM:616668
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Blepharospasm, Bradykinesia, Leg dystonia, Rigidity, Postural tremor, Parkinsonis... OMIM:606324
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Focal-onse... OMIM:619317
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Bilateral tonic-clonic seizure, Difficulty walking, Myoclonus OMIM:619191
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Abnormal pyramidal sign, Dysmetria, Parkinsonism, Dystonia, Bradykinesia, Ataxia, Chorea OMIM:618317
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Spasticity, Seizure, Ataxia, Dystonia OMIM:614458
Combined Saposin Deficiency
Fasciculations, Babinski sign, Hyperkinetic movements, Myoclonus OMIM:611721
Spinocerebellar Ataxia Type 27
Hand tremor, Akinesia, Gait ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Difficulty wal... ORPHA:98764
Mohr-Tranebjaerg Syndrome
Spasticity, Dystonia, Abnormal posturing, Tremor OMIM:304700
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Seizure, Ataxia, Tremor OMIM:300983
Infantile Neuronal Ceroid Lipofuscinosis
Dysmetria, Myoclonic spasms, Dystonia, Generalized-onset seizure, Ataxia, Unsteady gait, Spastici... ORPHA:79263
Cholesterol Pneumonia
Tachypnea, Pneumonia, Cough OMIM:215030
Pontocerebellar Hypoplasia, Type 1E
Respiratory failure requiring assisted ventilation, Myoclonus, EEG with burst suppression OMIM:619303
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:618856
Landau-Kleffner Syndrome
Atypical absence seizure, Focal myoclonic seizure, Non-convulsive status epilepticus without coma... ORPHA:98818
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Abnormality of extrapyramida... OMIM:300894
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal aware motor seizure, Focal-onset seizure, Focal myoclonic seizure, Early on... ORPHA:3006
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity... OMIM:619725
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Developmental And Epileptic Encephalopathy 52
Atypical absence seizure, Abnormal pyramidal sign, Focal hemiclonic seizure, Generalized myocloni... OMIM:617350
Glycine Encephalopathy With Normal Serum Glycine
Hypertonia, Clonus, Exaggerated startle response OMIM:617301
Subacute Inflammatory Demyelinating Polyneuropathy
Abnormality of somatosensory evoked potentials, Frequent falls, Somatic sensory dysfunction, Chor... ORPHA:206594
Dystonia 7, Torsion
Torsion dystonia, Hand tremor, Blepharospasm, Torticollis, Clumsiness, Writer's cramp, Oromandibu... OMIM:602124
Spinocerebellar Ataxia 17
Dysmetria, Parkinsonism, Dystonia, Intention tremor, Apraxia, Bradykinesia, Ataxia, Gait ataxia, ... OMIM:607136
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Hand tremor, Resting tremor, Shuffling gait, Focal dystonia, Bl... ORPHA:53351
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Abnormal pyramidal sign, Decreased body weight, Parkinsonism, Dystonia, Ataxia, Rigidity, Spastic... OMIM:617672
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Blepharospasm, Torticollis, Tremor OMIM:224500
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Generalized-onset seizure, Intention tremor, Gait ataxia, Postural tremor, Myoclonus OMIM:254900
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Glutathione Synthetase Deficiency
Spastic tetraparesis, Seizure, Ataxia, Intention tremor OMIM:266130
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response ORPHA:438216
Combined Oxidative Phosphorylation Deficiency 6
Involuntary movements, Tetraplegia, Respiratory insufficiency due to muscle weakness, Fasciculations OMIM:300816
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Infantile Convulsions And Choreoathetosis
Dystonia, Choreoathetosis, Complex febrile seizure, Paroxysmal dyskinesia, Involuntary movements,... ORPHA:31709
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure ORPHA:208441
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait, Distal sensory impairment, Dysdiadochokines... OMIM:617633
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Spastic gait, Ataxia, Unsteady gait, Impaired vibration sensation at ank... OMIM:616795
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress OMIM:267450
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
EEG abnormality, Respiratory insufficiency, Rigidity, Apnea, Central hypoventilation, Myoclonus OMIM:300673
Neuroectodermal Melanolysosomal Disease
Tremor, Ataxia, Rigidity, Spasticity, Seizure, Hypertonia ORPHA:33445
Epilepsy, Familial Adult Myoclonic, 7
Myoclonic tremor OMIM:618075
Lopes-Maciel-Rodan Syndrome
Abnormal pyramidal sign, Hypertonia, Dystonia, Bradykinesia, Tremor, Unsteady gait, Spasticity, S... OMIM:617435
Hyperprolinemia, Type I
Generalized hypotonia, Hyperactivity, Ataxia, Hypotonia OMIM:239500
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Opisthotonus, Dystonia, Choreoathetosis, Oculogyric crisis, Bradykinesia, Ataxia, Rigidity, Clonu... ORPHA:13
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Paraparesis, Gait disturbanc... ORPHA:99014
Gabriele-De Vries Syndrome
Waddling gait, Dystonia, Tremor OMIM:617557
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsiness, Tremor OMIM:612953
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Tremor OMIM:618637
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:609056
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Chin myoclonus, Focal myoclonic seizure, Febrile seizure (withi... ORPHA:263516
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Dystonia, Bradykinesia, Generalized hypotonia, Hemiparesis, Difficulty walking, Tremor ORPHA:306669
Ceroid Lipofuscinosis, Neuronal, 5
Dysmetria, Ataxia, Dysdiadochokinesis, Abnormal nervous system electrophysiology, Clumsiness, Myo... OMIM:256731
Spinocerebellar Ataxia Type 2
Kinetic tremor, Parkinsonism, Dystonia, Fasciculations, Progressive cerebellar ataxia, Gait ataxi... ORPHA:98756
Spinocerebellar Ataxia 5
Incoordination, Dysmetria, Impaired vibratory sensation, Intention tremor, Gait ataxia, Upper mot... OMIM:600224
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Somatic sensory dysfunction, Abnormality of visua... ORPHA:320401
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure OMIM:608278
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Dystonia, Parkinsonism with favorable response to dopaminergic medicati...