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Gene: Glra1 MGI:95747

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperekplexia 1
Frequent falls, Hypertonia, Exaggerated startle response, Myoclonus OMIM:149400
Hereditary Hyperekplexia
Hypertonia, Fasciculations, Spasticity, Seizure, Gait disturbance, Rigidity, Ataxia, Myoclonus ORPHA:3197

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
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Spastic Ataxia With Congenital Miosis
Hemiplegia/hemiparesis, Seizure, Ataxia, Spastic ataxia ORPHA:1182
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Seizure, Tremor, Ataxia OMIM:213000
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Dystonia 31
Abnormal posturing, Difficulty walking, Leg dystonia, Writer's cramp, Craniofacial dystonia, Arm ... OMIM:619565
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Seizure, Gait disturbance, Dyst... OMIM:614561
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Focal impaired awareness seizure, Visually-induced seizure, Bilateral tonic-... OMIM:614417
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Generalized myoclonic seizure, Tremor, Atonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:612437
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Hyperekplexia-Epilepsy Syndrome
Hypertonia, Exaggerated startle response ORPHA:163985
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Ataxia, Unsteady gai... OMIM:616053
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia ORPHA:217012
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Hypertonia, Lower limb spasticity, Fasciculations, Spastic tetraparesis, Exaggerat... OMIM:618598
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Seizure, Tremor, Frequent falls, Unsteady gait OMIM:616921
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:22
Developmental And Epileptic Encephalopathy 68
Spasticity, Myoclonus, Exaggerated startle response, Clonus OMIM:618201
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Ataxia, Frequent falls OMIM:615945
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Bilateral tonic-clonic seizure, Dystonia, At... OMIM:618425
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni... OMIM:254770
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Epilepsy, Progressive Myoclonic 7
Tremor, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus OMIM:616187
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609253
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
X-Linked Spinocerebellar Ataxia Type 4
Abnormal pyramidal sign, Difficulty walking, Progressive cerebellar ataxia, Postural tremor ORPHA:85292
Spastic Paraplegia 72A, Autosomal Dominant
Spastic gait, Babinski sign, Tip-toe gait, Hoffmann sign, Spasticity, Impaired vibration sensatio... OMIM:615625
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Difficulty walking, Tremor, Gait ataxia ORPHA:423296
Cerebellar Ataxia, Cayman Type
Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Nonprogressive cerebellar ataxia ORPHA:94122
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Seizure, Spastic tetraparesis, Ataxia OMIM:619061
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure... OMIM:615006
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Tremor, Bilatera... OMIM:617831
Centralopathic Epilepsy
Focal-onset seizure, Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset OMIM:117100
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Spermatogenic Failure 17
Male infertility OMIM:617214
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Hyperekplexia 2
Hypertonia, Exaggerated startle response, Myoclonus OMIM:614619
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Spasticity, Impulsivity, Gait ataxia, Rigidity, Dystonia, Dysphagia, Clumsiness OMIM:620448
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Axial hypotonia, Unsteady gait ORPHA:494526
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus ORPHA:308
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Atonic seizure, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness... OMIM:619970
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Vocal tremor, Head tremor OMIM:618866
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, EEG with polyspike wave complexes, Tremor, Myoclonus, Jerk-locked pr... OMIM:615127
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Compulsive behaviors, Addictive alcohol use, Hypotonia, Myoc... OMIM:159900
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:600669
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Gait disturbance, Cogwheel rigidity... ORPHA:363710
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:616056
Hyperekplexia 3
Hypertonia, Exaggerated startle response, Myoclonus OMIM:614618
Developmental And Epileptic Encephalopathy 8
Hypertonia, Exaggerated startle response OMIM:300607
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:613721
Spinocerebellar Ataxia Type 23
Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Impaired dist... ORPHA:101108
Infantile Spasms Syndrome
Hypsarrhythmia, Myoclonus ORPHA:3451
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Spasticity, Tremor, Focal moto... ORPHA:599373
Paroxysmal Exertion-Induced Dyskinesia
Paroxysmal dyskinesia, Generalized non-motor (absence) seizure, Lower limb spasticity, Chorea, To... ORPHA:98811
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Generalized myoclonic seizure, Ataxia, Myoclonus OMIM:208700
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ... OMIM:608096
Migraine, Familial Hemiplegic, 1
Seizure, Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Difficulty walking, Myoclonic status epilepticus, Tremor... OMIM:614018
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Enhancement of the C-reflex, Tremor, Giant somatosensory evoked potentials, M... OMIM:613608
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Seizure, Ataxia, Apraxia ORPHA:85338
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Chorea, Dystonia, Involuntary movements OMIM:611031
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Focal impaired awareness seizure, Bilateral tonic-clo... OMIM:615400
Dentatorubral-Pallidoluysian Atrophy
Chorea, Seizure, Dystonia, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Seizures, Benign Familial Infantile, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:605751
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure... OMIM:616366
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:613722
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Myoclonic seizure, Atonic seiz... OMIM:616421
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Tonic seizure, Bilateral ... OMIM:615369
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
Epilepsy, Familial Temporal Lobe, 6
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the... OMIM:615697
Xeroderma Pigmentosum, Complementation Group G
Infantile spasms, Spasticity, Tremor, Ataxia, Small for gestational age OMIM:278780
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity, Hypotonia, Generalized hypotonia, Bruxism, Aggressive behavior OMIM:615493
Hyperekplexia 1
Frequent falls, Hypertonia, Exaggerated startle response, Myoclonus OMIM:149400
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic sei... OMIM:618587
Developmental And Epileptic Encephalopathy 97
Hypsarrhythmia, Tremor, Inability to walk, Hypotonia OMIM:619561
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Intentio... OMIM:613908
Autosomal Spastic Paraplegia Type 72
Spastic gait, Rigidity, Impaired vibration sensation at ankles, Postural tremor ORPHA:401849
Alternating Hemiplegia Of Childhood 2
Tetraplegia, Seizure, Dystonia, Ataxia, Episodic quadriplegia, Hemiplegia, Status epilepticus, Ch... OMIM:614820
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Stiff Person Spectrum Disorder
Rigidity, Exaggerated startle response ORPHA:3198
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor, Hypogonadism OMIM:312910
Gm2 Gangliosidosis, Ab Variant
Chorea, Exaggerated startle response, Dystonia, Abnormal pyramidal sign, Progressive spastic quad... ORPHA:309246
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Fasciculations, Truncal atax... ORPHA:95434
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Epilepsy, Familial Adult Myoclonic, 1
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Gia... OMIM:601068
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:611364
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Difficulty walking, Impaired proprioception, Limb ataxia... ORPHA:251282
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia ORPHA:309169
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Babinski sign, Exaggerated startle response, Ankle clonus OMIM:609541
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Seizure, Frequent falls, Gait ata... OMIM:607317
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
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Seizure, Ataxia, Abnormal pyram... ORPHA:79262
Leukodystrophy, Hypomyelinating, 13
Hypertonia, Lower limb spasticity, Spasticity, Exaggerated startle response, Clonus, Ataxia OMIM:616881
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Gait ... ORPHA:276193
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Ataxia, Bilateral tonic-clonic seizure OMIM:617709
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic ... OMIM:605021
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Unsteady gait, Hypogonadism, Ankl... OMIM:615768
Spastic Paraplegia 62, Autosomal Recessive
Spastic gait, Babinski sign, Hoffmann sign, Lower limb spasticity, Fasciculations, Spasticity, An... OMIM:615681
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Resting tremor, Incoordination, Spastic... OMIM:128230
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l... OMIM:610245
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Cachexia, Tremor, Bilateral tonic-clonic seizure, Gait ataxia, Dystonia, A... OMIM:618093
Spinocerebellar Ataxia, X-Linked 1
Neonatal hypotonia, Abnormality of extrapyramidal motor function, Intention tremor, Action tremor... OMIM:302500
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Focal aware seizure, Generalized-onset seizure, Bilatera... ORPHA:101046
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... ORPHA:1941
Epilepsy, Progressive Myoclonic, 11
Seizure, Intention tremor, Rigidity, Ataxia, Myoclonus OMIM:618876
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus, Somatic sen... ORPHA:98763
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticolli... OMIM:128100
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Abnormality of extrapyramidal motor function, Exaggerated startle response, Progressive spastic p... ORPHA:320406
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Tremor, Vocal cord paralysis, Vocal cord paresis, Abnormal motor nerve conduc... OMIM:158580
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Distal sensory impairment, Tremor OMIM:615048
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Convu... OMIM:617389
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... ORPHA:314978
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Truncal ataxia, Intention tremor, Unsteady gait, Ataxia, Abnormal pyramida... OMIM:616948
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Focal sensory seizure, Chorea, Seizure, Athetosis, Involuntary movements, Dystonia ORPHA:98809
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Dystonia, Torticollis, Involuntary movements OMIM:620245
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Chorea, Spastic tetraparesis, Exaggerated startle response, Dystonia, Abnormal pyrami... OMIM:272750
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Focal-onset seizure, Abnormality of extrapyramidal motor function, Seizure, Tremor... OMIM:615362
Cerebellar Atrophy, Developmental Delay, And Seizures
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:600363
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tremor, Seizure, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity, Hypotonia, Bruxism, Aggressive behavior ORPHA:356996
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Unsteady gait, Spastic parap... ORPHA:423275
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Compulsive be... ORPHA:216873
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence seizure, Myoclon... OMIM:616346
Paroxysmal Non-Kinesigenic Dyskinesia
Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Chorea, Involuntary movements, Rigidi... ORPHA:98810
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal o... OMIM:612691
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Babinski sign, Inability to walk, Hyperactivity, Spasticity, Hypotonia, Ankle clonus, Spastic tet... OMIM:616657
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... ORPHA:65684
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance, Intentio... ORPHA:98762
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with... OMIM:245570
Developmental And Epileptic Encephalopathy 56
Generalized non-motor (absence) seizure, Broad-based gait, Focal motor seizure, Seizure, Action t... OMIM:617665
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ... OMIM:607745
Dystonia 23
Writer's cramp, Torticollis, Axial dystonia, Gait disturbance, Head tremor, Limb dystonia, Myoclonus OMIM:614860
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Pa... OMIM:604326
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Inability to walk, Tremor, Gait disturbance, Gait ataxia, Bilatera... OMIM:618090
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Generalized myoclonic seizure, Myoclonic absence seizure, Tremor, Bilateral tonic-c... OMIM:617836
Stiff-Person Syndrome
Frequent falls, Exaggerated startle response, Myoclonic spasms, Rigidity, Opisthotonus OMIM:184850
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Paroxysmal dyskinesia, Episodic ataxia, Bilateral tonic-clonic seizure, Spastic paraplegia, Dysto... ORPHA:53583
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Seizure, Tremor, Ataxia OMIM:618951
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Hand tremor, Focal-onset seizure, Myoclonus ORPHA:86814
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, Bilateral tonic-clonic seizure,... OMIM:607682
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T... OMIM:620115
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Gait ataxia OMIM:616410
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Tremor, Dystonia, Myoclonus OMIM:619651
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Tay-Sachs Disease
Hypertonia, Exaggerated startle response OMIM:272800
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Focal motor seizure, Bilateral tonic-clonic seizure, Myoclon... OMIM:608105
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Seizure, Gait disturbance, Rigidity,... OMIM:213600
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Spasticity, I... ORPHA:284332
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, Focal motor seizure, Seizure, Focal aware seizure, ... ORPHA:725
Isolated Focal Cortical Dysplasia
Epileptic spasm, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spasms, Generalized-... ORPHA:65683
Intellectual Developmental Disorder, Autosomal Recessive 77
Unsteady gait, Self-biting, Head tremor OMIM:619988
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity, Hypotonia DECIPHER:20
Developmental And Epileptic Encephalopathy 42
Hypertonia, Tremor, Athetosis, Focal tonic seizure, Bilateral tonic-clonic seizure, Tonic seizure... OMIM:617106
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset... ORPHA:36387
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:162350
Infantile Convulsions And Choreoathetosis
Paroxysmal dyskinesia, Focal-onset seizure, Experiential epileptic aura, Chorea, Seizure, Athetos... ORPHA:31709
Dystonia 22, Juvenile-Onset
Oromandibular dystonia, Torticollis, Lower limb spasticity, Dysdiadochokinesis, Bilateral tonic-c... OMIM:620453
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Ataxia, Dysmetria, Truncal ataxia OMIM:617584
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Focal tonic... OMIM:614558
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Dysphagia, Unste... ORPHA:210571
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Failure to thrive, Ataxia, Myoclonus OMIM:616494
Autosomal Dominant Spastic Paraplegia Type 6
Babinski sign, Lower limb spasticity, Gait disturbance, Bilateral tonic-clonic seizure, Spastic p... ORPHA:100988
Lichtenstein-Knorr Syndrome
Limb ataxia, Dysdiadochokinesis, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:616291
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Tip-toe gait, Generalized dystonia, Inability to walk, Spasticity, Frequent f... ORPHA:216866
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Spasticity, Cerebral palsy, Compulsive behaviors, Phonic tics, Dystonia, Unsteady ... OMIM:301107
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Seizure, Tremor, Bilateral tonic-clonic seizure, Paraparesis, ... OMIM:612736
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Exaggerated startle response, Gait ataxi... OMIM:618056
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Ataxia, Hypotonia, Aggressive behavior OMIM:620270
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Spasticity, Rigidity, Ataxia OMIM:183050
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:616409
Episodic Ataxia, Type 9
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clonic seizure OMIM:618924
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Developmental And Epileptic Encephalopathy 34
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus... OMIM:616645
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Babinski sign, Bradykinesia, Progressive extrapyramidal muscular rigidity, Ch... ORPHA:225147
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Tremor, Spastic tetraparesis, Motor stereotypy, Hypotonia, Aggre... OMIM:619470
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Waddling gait, Inappropriate laughter, Self-mutilation, Aggressive beh... OMIM:616269
Developmental And Epileptic Encephalopathy 69
Hyperkinetic movements, Hypsarrhythmia, Myoclonus, Spastic tetraplegia, EEG abnormality OMIM:618285
Aromatic L-Amino Acid Decarboxylase Deficiency
Babinski sign, Torticollis, Oculogyric crisis, Limb hypertonia, Athetosis, Blepharospasm, Limb dy... OMIM:608643
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Spasticity, Limb dystonia, Head tremor, Gait ataxia, Rigidity, Dyston... ORPHA:101109
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Intention tremor, Gait ataxia, Ataxia, Clumsiness, Dysmetria OMIM:608029
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia OMIM:615034
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Myoclonic seizure, Myoclonic status epilepticus, Bilateral tonic-c... OMIM:611726
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Seizure, Gait disturbance, Bilateral ton... OMIM:300423
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Action myoclonus, Myoclonus, Statu... OMIM:616540
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Difficulty walking, Myoclonic status epilepticus... ORPHA:2590
Sandhoff Disease, Infantile Form
Spasticity, Exaggerated startle response, Myoclonus ORPHA:309155
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Seizure, Craniofacial dystonia, Limb dystonia, Gait at... ORPHA:71517
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Focal atonic seizure, Infantile spasms, Bilat... ORPHA:101071
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, My... OMIM:616139
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa... ORPHA:276435
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Dysphagia, Parkinsonism OMIM:128235
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Limb tremor, Progressive ... ORPHA:401820
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Developmental And Epileptic Encephalopathy 98
Focal-onset seizure, Refractory status epilepticus, Bilateral tonic-clonic seizure, Bilateral ton... OMIM:619605
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Developmental And Epileptic Encephalopathy 43
Infantile spasms, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic seizure, At... OMIM:617113
Parkinson Disease 19A, Juvenile-Onset
Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Seizure, Shuffling gait, Rigidity... OMIM:615528
Huntington Disease-Like 1
Abnormal posturing, Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Frequent ... ORPHA:157941
Glycosylphosphatidylinositol Biosynthesis Defect 15
Generalized non-motor (absence) seizure, Inability to walk, Apraxia, Spasticity, Tremor, Bilatera... OMIM:617810
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Dystonia 6, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Lingual dystonia, Limb dys... OMIM:602629
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Seizure, Shuffling gait, Gait ataxia, ... ORPHA:391411
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Epilepsy, Familial Focal, With Variable Foci 4
Simple febrile seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Clonic seizure, Foca... OMIM:617935
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Difficulty walking, Broad-based gait, Seizure, Tremor, Spastic paraplegia, Failure... ORPHA:477673
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl... ORPHA:306692
Developmental And Epileptic Encephalopathy 92
Difficulty walking, Inability to walk, Spasticity, Seizure, Dystonia, Ataxia, Myoclonus OMIM:617829
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Tremor, Ataxia, Myo... OMIM:619028
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Status epilepticus without prominent motor symptoms, Bilateral tonic-clonic ... OMIM:204300
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Hypertonia, Chorea, Spasticity, Exaggerated startle response, Spastic tetraplegia OMIM:617864
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Seizure, Tremor, Dystonia, Myoclonus, Choreoathetosis OMIM:261630
Primary Dystonia, Dyt2 Type
Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involuntary movements, Gener... ORPHA:99657
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Bilateral tonic-clonic seizure, Dystonia, Ataxia, Myoclonus, Failure to thrive in ... OMIM:619065
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Ataxia ORPHA:101075
Urocanic Aciduria
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Torticollis, Writer's cramp, Dystonia, Myoclonus, Limb myoclonus ORPHA:36899
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Seizure, Limb tremor, Ataxia, Loss of ambulation, Myoclonus, Clumsiness, Dysm... OMIM:256731
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, Chorea, Seizure, Ath... ORPHA:382
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Complex febrile seizure, Status epilepticus without pr... ORPHA:363549
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturbance, Gait ataxia, Dysto... OMIM:617145
Ataxia, Sensory, 1, Autosomal Dominant
Abnormal vestibulo-ocular reflex, Babinski sign, Gait instability, worse in the dark, Impaired di... OMIM:608984
Lissencephaly 10
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:618873
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Tongue fasciculations, Exaggerated startle response OMIM:608800
Developmental And Epileptic Encephalopathy 52
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atypical absence seizure,... OMIM:617350
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Re... OMIM:620482
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Spasticity, Tremor, Dystonia, Dysphagia OMIM:304700
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Difficulty walking, Focal-onset seizure, Inability to walk, Oculog... ORPHA:330050
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism OMIM:605909
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:616341
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:619191
Parkinson Disease 17
Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Developmental And Epileptic Encephalopathy 59
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic seizure, Focal impa... OMIM:617904
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Limb ataxia, Seizure, Gait ataxia ORPHA:404499
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Choreoathetosis, Ataxia, Gait disturbance ORPHA:67047
Spinocerebellar Ataxia, Autosomal Recessive 10
Limb ataxia, Babinski sign, Fasciculations, Truncal ataxia, Gait ataxia, Intention tremor, Dysmetria OMIM:613728
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Focal motor seizure, Seizure, Bilateral... OMIM:619911
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Axial hypotonia, Dystonia, Ataxia, Dysphagia, Hypotonia, Loss of a... OMIM:617916
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Tremor, Gait disturbance, Decreased motor nerve conduction... ORPHA:101077
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Babinski sign, Oculomotor apraxia, Truncal ataxia, Frequent falls, Gait ataxia, Intention tremor,... ORPHA:453521
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Fasciculations, Limb hypertonia, Tremor, Exaggerated startle response OMIM:620327
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Intention tremor, Gait ataxia, Unsteady gait, Dysmetria OMIM:615386
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Distal sensory impairment, Tremor, Gait ataxia, Ataxia, Dysmetria OMIM:618387
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with spike-wave complexes, EEG with polyspike wave complexes, Interictal epileptiform activit... OMIM:254800
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Lower limb spasticity, Sensory ataxia, Intention tremor, Gait ataxia, Impaired vibratory sensation OMIM:620221
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Atypical abse... ORPHA:2382
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Spastic dysarthria, Lower ... ORPHA:352641
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Ataxia ORPHA:101078
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Infantile spasms, Focal aware se... ORPHA:98820
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal impaired awareness se... OMIM:601764
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Myocl... OMIM:607346
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Status epilepticus, Bilateral tonic-clonic seizure OMIM:617171
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Impaired tactile s... OMIM:617225
Familial Dyskinesia And Facial Myokymia
Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus ORPHA:324588
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Frequent falls, Gait... ORPHA:93952
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Atypical Rett Syndrome
Gait ataxia, Bruxism, Pill-rolling tremor, Neonatal hypotonia, Agitation, Tongue thrusting, Tremo... ORPHA:3095
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Babinski sign, Positive Romberg sign, Spasticity, Seizure, Dystonia, Ataxia, Loss of ambulation, ... OMIM:618088
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Difficulty walking, Broad-based gait, Poor fine motor coordination, Frequent falls, Gait ataxia, ... ORPHA:512260
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Unsteady gait, Generalized ... OMIM:213200
Episodic Ataxia, Type 5
Typical absence seizure, Truncal ataxia, Episodic ataxia, Bilateral tonic-clonic seizure, Atypica... OMIM:613855
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Limb hypertonia, Hyperactivity, Chorea, Abnormality of extrapyramidal motor fu... ORPHA:500180
Ceroid Lipofuscinosis, Neuronal, 8
EEG abnormality, Ataxia, Myoclonus OMIM:600143
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:607565
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
X-Linked Charcot-Marie-Tooth Disease Type 6
Steppage gait, Decreased nerve conduction velocity, Distal sensory impairment, Difficulty walking... ORPHA:352675
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Decreased sensory nerve conduction velocity, Hypertonia, Steppage gait, Distal sen... OMIM:609260
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
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Hypotonia, Motor stereotypy, Generalized hypotonia, Aggressive behavior OMIM:239500
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Ataxia, Extrapyramidal dyskinesia, Myoclonu... ORPHA:71277
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Dysdiadochokinesis, Tremor, Seizure, Gait ataxia, Ataxia, Abnormal pyramidal s... OMIM:614831
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Photosensitive tonic-clon... ORPHA:86909
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Epilepsy, Familial Adult Myoclonic, 2
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Ble... OMIM:607876
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia, Hypotonia OMIM:613402
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Seizure, Tremor, Dystonia, Myoclonus, Abnormal pyramidal sign ORPHA:139485
Spinocerebellar Ataxia 29
Limb ataxia, Truncal titubation, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tre... OMIM:117360
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ga... OMIM:616710
Developmental And Epileptic Encephalopathy 37
Hyperkinetic movements, Chorea, Spasticity, Cogwheel rigidity, Rigidity, Myoclonus, Choreoathetosis OMIM:616981
Glut1 Deficiency Syndrome 2
Seizure, Tremor, Reticulocytosis, Dystonia, Ataxia, Splenomegaly, Choreoathetosis, Hemolytic anemia OMIM:612126
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss... ORPHA:101
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Seizure, Tremor, Rigidity, Dystonia, Ataxia, Parkinson... OMIM:261640
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:613643
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Bradykinesia, Hypertonia, Oculogyric crisis, Limb hypertonia, Broad-based gait, Axial hypotonia, ... OMIM:617384
Spermatogenic Failure 25
Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia OMIM:617960
Spermatogenic Failure 63
Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:618141
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Facial Onset Sensory And Motor Neuronopathy
Fasciculations, Paresthesia ORPHA:85162
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Seizure, Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign, Genera... OMIM:612016
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Combined Saposin Deficiency
Fasciculations, Babinski sign, Hyperkinetic movements, Myoclonus OMIM:611721
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Axial hypotonia, D... OMIM:618049
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Alpha-Methylacyl-Coa Racemase Deficiency
Focal-onset seizure, Spasticity, Tremor, Seizure, Intention tremor, Hemiparesis, Ataxia, Status e... OMIM:614307
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Chorea, Seizure, Gait ataxia, Rigi... ORPHA:248111
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Decreased nerve conduction velocity, Ataxia, Tremor ORPHA:1368
Pelizaeus-Merzbacher Disease, Classic Form
Difficulty walking, Abnormality of extrapyramidal motor function, Spasticity, Athetosis, Spastic ... ORPHA:280219
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Seizure, Ataxia, Slurred speech ORPHA:972
Spinocerebellar Ataxia 50
Apraxia, Chorea, Head tremor, Action tremor, Ataxia, Myoclonus, Postural tremor OMIM:620158
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic sei... OMIM:619157
Tay-Sachs Disease
Ankle clonus, Fasciculations, Incoordination, Decerebrate rigidity, Tremor, Progressive spasticit... ORPHA:845
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619528
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Distal sensory impairment, Impaired pain sensation, Spasticity, Tremor, Frequent fal... OMIM:616719
Spinocerebellar Ataxia, Autosomal Recessive 17
Limb ataxia, Oculomotor apraxia, Broad-based gait, Truncal ataxia, Frequent falls, Gait ataxia, I... OMIM:616127
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity, Dystonia, Weight loss OMIM:606438
Intellectual Developmental Disorder, X-Linked 104
Seizure, Spasticity, Tremor, Ataxia OMIM:300983
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor, Dysphagia, Decreased fertility, Testicular atrophy OMIM:313200
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Gait disturbance, Gait ataxia,... ORPHA:98764
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, Bilateral tonic-clonic seizure OMIM:608636
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Truncal ataxia, Action myoclonus, Myoclonus, Choreoathetosis, EEG with photoparoxysm... OMIM:616230
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Glut1 Deficiency Syndrome 1
Babinski sign, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, EEG abnormality, Choreoathe... OMIM:606777
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Distal sensory impairment, Inability to walk, Tremor, Abnormal peripheral ac... ORPHA:90117
Smith-Magenis syndrome
Hyperactivity, Hypotonia, Self-mutilation, Motor stereotypy DECIPHER:8
Sandhoff Disease
Fasciculations, Spasticity, Upper motor neuron dysfunction, Exaggerated startle response, Ataxia OMIM:268800
Spastic Paraplegia 70, Autosomal Recessive
Fasciculations, Spasticity, Somatic sensory dysfunction, Ankle clonus OMIM:620323
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Poor fine motor coordination, Seizure, Generalized-onset seizure, Myo... ORPHA:79263
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure with generalized... OMIM:609446
Parkinsonism With Polyneuropathy
Bradykinesia, Decreased compound muscle action potential amplitude, Resting tremor, Parkinsonism ... OMIM:619279
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Agitation, Hypertonia, Spasticity, Tremor, Axial hypotonia, Dystonia, Unsteady gait... OMIM:617435
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Dystonia, ... OMIM:606703
Late-Infantile/Juvenile Krabbe Disease
Tetraplegia, Ataxia, Acroparesthesia, Clumsiness, Hemiplegia, Decreased nerve conduction velocity... ORPHA:206443
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Truncal ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Atax... OMIM:610185
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Ankle clonus, Upper limb dysmetria, Impaired ... OMIM:614409
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Chorea, Incoordination, Lingual dystonia, Poor motor coordination, Frequent falls,... OMIM:500003
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Non-obstructive azoospermia ORPHA:1646
Phenylketonuria
Seizure, Tremor, Ataxia, Lower limb spasticity ORPHA:716
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Apraxia, Broad-based gait, Chorea, Positive Romberg sign, Seizure, Gai... OMIM:607136
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Spasticity, Tremor, Infantile muscular hypotonia, Motor stereot... OMIM:618718
Dystonia 7, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,... OMIM:602124
Manganese Poisoning
Bradykinesia, Hypertonia, Akinesia, Decreased male libido, Abnormality of extrapyramidal motor fu... ORPHA:306682
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Chorea, Progressive extrapyramidal muscular rig... ORPHA:53351
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Nocturnal seizures, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Bi... OMIM:619725
Spermatogenic Failure 30
Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia OMIM:618110
Developmental And Epileptic Encephalopathy 49
Facial-lingual fasciculations, Spasticity, Exaggerated startle response, Myoclonus, Spastic tetra... OMIM:617281
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure ORPHA:79137
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Generalized hypotonia ORPHA:306669
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Spermatogenic Failure 50
Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:612621
Geniospasm 1
Chin myoclonus OMIM:190100
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Ceroid Lipofuscinosis, Neuronal, 2
Abnormal nervous system electrophysiology, Ataxia, Myoclonus OMIM:204500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Focal motor seizure, Seizure, Gait disturbance, Dystonia, Ataxia, Abnormal py... ORPHA:542310
Landau-Kleffner Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal myoclonic seizure, Noc... ORPHA:98818
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia OMIM:619831
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response ORPHA:438216
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Dystonia 37, Early-Onset, With Striatal Lesions
Leg dystonia, Oculomotor apraxia, Chorea, Loss of ambulation, Ataxia, Generalized dystonia, Chore... OMIM:620427
Glycine Encephalopathy With Normal Serum Glycine
Hypertonia, Exaggerated startle response, Clonus OMIM:617301
Glutathione Synthetase Deficiency
Seizure, Spastic tetraparesis, Ataxia, Intention tremor OMIM:266130
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Tonic seizure, Aty... OMIM:617711
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Atonic... OMIM:620145
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Ataxia, Unsteady gai... OMIM:616795
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Atypical Progressive Supranuclear Palsy Syndrome
Inappropriate behavior, Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extra... ORPHA:99750
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Seizure, Cogwheel rigidity... ORPHA:363654
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Focal-onset seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:620461
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Spasticity, Progressive spasticity, Bilateral tonic-clonic seizure, Parapare... ORPHA:726
Fragile X Tremor/Ataxia Syndrome
Obsessive-compulsive trait, Bradykinesia, Premature ovarian insufficiency, Resting tremor, Poor f... OMIM:300623
Spinocerebellar Ataxia 27B, Late-Onset
Limb ataxia, Postural tremor, Gait ataxia OMIM:620174
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:208441
Developmental Delay With Or Without Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Seizure, Infantile spasms, Bilatera... OMIM:620540
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti... OMIM:606693
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Tremor, Axial hypotonia, Failure to thrive, Antalgic gait, Appendicular hypotonia, Te... OMIM:620546
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral ton... OMIM:617976
Dystonia 15, Myoclonic
Dystonia, Writer's cramp, Myoclonus OMIM:607488
Dravet Syndrome
Epilepsia partialis continua, Focal-onset seizure, Incoordination, Action tremor, Atypical absenc... ORPHA:33069
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Paraparesi... ORPHA:99014
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased distal sensory nerve action potential, Decreased sensory nerve conduction velocity, Dec... ORPHA:206594
Dystonia 16
Bradykinesia, Retrocollis, Limb dystonia, Involuntary movements, Gait disturbance, Abnormal pyram... OMIM:612067
Neuronal Intranuclear Inclusion Disease
Decreased sensory nerve conduction velocity, Tremor, Gait disturbance, Rigidity, Ataxia, Decrease... OMIM:603472
Spinocerebellar Ataxia Type 10
Babinski sign, Progressive cerebellar ataxia, Gait imbalance, Lower limb spasticity, Dysdiadochok... ORPHA:98761
Neuroectodermal Melanolysosomal Disease
Hypertonia, Spasticity, Tremor, Seizure, Rigidity, Ataxia ORPHA:33445
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Oculogyric crisis, Seizure, Tremor, Cerebral palsy, Rigidity, Dyst... ORPHA:70594
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Abnormal fear-induced behavior, Lower limb spasticity, Broad-based gait, Hyperactivity,... ORPHA:3077
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, S... OMIM:618877
Spinocerebellar Ataxia, Autosomal Recessive 32
Bradykinesia, Limb ataxia, Torticollis, Gait ataxia, Limb myoclonus, Somatic sensory dysfunction,... OMIM:619862
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Developmental And Epileptic Encephalopathy 46
Limb hypertonia, Seizure, Tremor, Generalized-onset seizure, Failure to thrive OMIM:617162
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Complex febrile seizure, Bilateral ... OMIM:619338
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Neu... ORPHA:240085
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Gait ataxia, Ataxia, Unsteady... OMIM:609270
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Babinski sign, Progressive cerebellar ataxia, Dysdiadochokinesis, Intention tremor, Gait ataxia, ... ORPHA:504476
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Truncal ataxia, Spasticity, Dysdiadochokinesis, Intention tremor, ... ORPHA:352403
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Ga... ORPHA:98773
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
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Leukodystrophy, Hypomyelinating, 6
Oculomotor apraxia, Spasticity, Tremor, Seizure, Rigidity, Dystonia, Ataxia, Choreoathetosis OMIM:612438
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Male hypogonadism, Apraxia, Facial hypotonia, Resting ... OMIM:300055
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Classic Galactosemia
Premature ovarian insufficiency, Male infertility, Gait imbalance, Secondary amenorrhea, Incoordi... ORPHA:79239
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Photosensitive myoclonic seizure, Bilateral tonic-clonic seizure, Febril... ORPHA:263516
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Myoclonic absence ... OMIM:619317
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Bilateral tonic-clonic se... ORPHA:254881
Epilepsy With Eyelid Myoclonia
EEG with spike-wave complexes, Continuous spike and waves during slow sleep, Interictal epileptif... ORPHA:139431
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Shuffling gait, Spastic tetraparesis, ... ORPHA:352649
Yoon-Bellen Neurodevelopmental Syndrome
Status epilepticus, Generalized myoclonic-atonic seizure, Infantile spasms, Bilateral tonic-cloni... OMIM:619701
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic seizure ORPHA:140927
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Bilateral toni... OMIM:614487
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Hypertonia, Episodic ataxia OMIM:234500
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism OMIM:619738
Baker-Gordon Syndrome
Hyperkinetic movements, Athetoid cerebral palsy, Involuntary movements, Dystonia, Ataxia, Choreoa... OMIM:618218
Myoclonus, Familial, 2
Limb myoclonus, Dystonia OMIM:618364
Combined Oxidative Phosphorylation Deficiency 58
Appendicular spasticity, Exaggerated startle response, Gait ataxia, Ataxia, Myoclonus OMIM:620451
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Choreoath... OMIM:606159
Glycine Encephalopathy 1
Hyperactivity, Impulsivity, Restlessness, Myoclonus, Hypotonia, Generalized hypotonia, Aggressive... OMIM:605899
Plaa-Associated Neurodevelopmental Disorder
Limb hypertonia, Abnormality of extrapyramidal motor function, Exaggerated startle response, Rigi... ORPHA:521426
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Babinski sign, Hypertonia, Abnormality of extrapyramidal motor function, Exaggerated startle resp... OMIM:617527
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, Impaired distal pro... ORPHA:137898
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Abnormality of visual evoked potentials... ORPHA:96
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Seizure, Bilateral tonic-clonic seizu... ORPHA:529665
Hsd10 Disease
Seizure, Tremor, Gait disturbance, Rigidity, Ataxia, Myoclonus, Spastic paraparesis, Choreoathetosis ORPHA:391417
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... OMIM:137440
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:619301
Hemimegalencephaly
EEG with polyspike wave complexes, EEG with focal spikes, Interictal EEG abnormality, Hemiparesis... ORPHA:99802
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:618856
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Fasciculations, Decreased motor nerve conduction velocity OMIM:615575
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Intention tremor, Dystonia... OMIM:613724
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Frequent falls, Lower limb hypertonia, Myoclonus, S... ORPHA:254343
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Focal emotional seizure with laughing, Bilateral tonic-clonic seiz... OMIM:619881
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Myocl... OMIM:618497
Isaacs Syndrome
Fasciculations, EEG abnormality ORPHA:84142
Spinocerebellar Ataxia Type 32
Male infertility, Progressive cerebellar ataxia, Testicular atrophy, Azoospermia ORPHA:276183
Spinocerebellar Ataxia Type 2
Progressive cerebellar ataxia, Fasciculations, Chorea, Gait ataxia, Dystonia, Parkinsonism, Postu... ORPHA:98756
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Titubation, Unsteady gait, Ataxia, Dysmetria OMIM:619405
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at... ORPHA:276198
Charcot-Marie-Tooth Disease And Deafness
Steppage gait, Distal sensory impairment, Tremor, Gait disturbance, Decreased motor nerve conduct... OMIM:118300
Roussy-Levy Hereditary Areflexic Dystasia
Distal sensory impairment, Gait ataxia, Action tremor, Upper limb postural tremor, Decreased moto... OMIM:180800
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Focal-onset seizure, Impaired tactile sensation, Bilateral tonic-clonic seizure with ... OMIM:619092
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Lissencephaly 3
Seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure OMIM:611603
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Atonic seizure, Myoclonus, Focal... OMIM:615859
Caribbean Parkinsonism
Bradykinesia, Apraxia, Action tremor, Rigidity, Dystonia, Parkinsonism, Myoclonus, Weakness due t... ORPHA:97355
Developmental And Epileptic Encephalopathy 40
Hypsarrhythmia, Spasticity, Spastic tetraparesis, Myoclonus, Choreoathetosis OMIM:617065
Cystathioninuria
Seizure, Tremor ORPHA:212
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:619302
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized myoclonic seizure, Difficulty walking, Tongue fasciculations, Tremor, Generalized-ons... OMIM:159950
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis ORPHA:329284
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Hypertonia, Hyperkinetic movements, Oculogyric crisis, Abnormality of extrapyramida... ORPHA:13
Hypermanganesemia With Dystonia 2
Tip-toe gait, Babinski sign, Bradykinesia, Oromandibular dystonia, Generalized dystonia, Inabilit... OMIM:617013
Behr Syndrome
Babinski sign, Truncal ataxia, Tremor, Progressive spasticity, Frequent falls, Gait disturbance, ... OMIM:210000
Saccharopinuria
Distal sensory impairment, Seizure, Tremor, Gait ataxia, Spastic diplegia ORPHA:3124
Proximal Myopathy With Extrapyramidal Signs
Difficulty walking, Progressive extrapyramidal muscular rigidity, Chorea, Resting tremor, Involun... ORPHA:401768
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Incoordination, Tremo... OMIM:302800
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Focal emotional seizure with laughing, Bilateral tonic-clonic seizure, Bilateral... ORPHA:293181
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Generalized myoclonic seizure, Generalized tonic seizure, Tremor, Bilateral toni... OMIM:612164
Asparagine Synthetase Deficiency
Hypertonia, Limb hypertonia, Tremor, Exaggerated startle response, Clonus, Spastic tetraplegia OMIM:615574
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatomegaly, Generalized lipodystrophy, Spasticity, Tremor, Seizure, Poor motor coord... ORPHA:363400
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Tremor, Rigidity, Dystonia, Thrombocytopenia, Splenomegaly, Loss of ambulation, Hem... OMIM:615010
Valinemia
Hyperkinetic movements OMIM:277100
Non-Specific Early-Onset Epileptic Encephalopathy
Difficulty walking, Limb hypertonia, Hypsarrhythmia, EEG with multifocal slow activity, Spasticit... ORPHA:442835
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:301020
Pontocerebellar Hypoplasia Type 4
Hypertonia, Central apnea, Myoclonus ORPHA:166063
Benign Familial Neonatal Epilepsy
Focal EEG discharges with secondary generalization, Increased theta frequency activity in EEG, Cl... ORPHA:1949
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Babinski sign, Spasticity, Tremor, Dystonia, Ataxia, Dysphagia, Loss of ambulation, Postural trem... OMIM:607694
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Ge... ORPHA:208447
Amyotrophic Lateral Sclerosis 18
Fasciculations, Spasticity, Amyotrophic lateral sclerosis OMIM:614808
Multiple System Atrophy, Cerebellar Type
Bradykinesia, Limb ataxia, Female anorgasmia, Progressive cerebellar ataxia, Axial dystonia, Rest... ORPHA:227510
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Inability to walk, Seizure, Tremor, Failure to thrive, Ataxia OMIM:619556
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Generalized dystonia, Oculogyric crisis, Abnormality of extrapyramid... ORPHA:101150
Spinocerebellar Ataxia 2
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... OMIM:183090
Crigler-Najjar Syndrome Type 1
Seizure, Tremor ORPHA:79234
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus OMIM:609056
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Chorea, Truncal ataxia, Tremor, Impai... OMIM:208920
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Amyotrophic Lateral Sclerosis 5, Juvenile
Babinski sign, Fasciculations, Spasticity, Abnormal pyramidal sign, Abnormal lower motor neuron m... OMIM:602099
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Congenital Disorder Of Glycosylation, Type Iaa
Status epilepticus, Bilateral tonic-clonic seizure OMIM:617082
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Hyperkinetic movements, Oculogyric crisis, Chorea, Spasticity, Dystonia, Myoclonus OMIM:614254
Spinocerebellar Ataxia Type 17
Torticollis, Writer's cramp, Chorea, Spasticity, Blepharospasm, Gait disturbance, Involuntary mov... ORPHA:98759
Progressive Myoclonic Epilepsy With Dystonia
Abnormality of extrapyramidal motor function, EEG with irregular generalized spike and wave compl... ORPHA:352596
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Seizure, Bilateral tonic-clonic seizure OMIM:620317
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations, Amyotrophic lateral sclerosis OMIM:619141
Neurodevelopmental Disorder With Involuntary Movements
Hyperkinetic movements, Chorea, Spasticity, Athetosis, Involuntary movements, Dystonia OMIM:617493
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Seizure, Bilatera... OMIM:619616
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Peroxisome Biogenesis Disorder 5B
Neonatal hypotonia, Oculomotor apraxia, Tremor, Unsteady gait, Ataxia, Generalized hypotonia, Dys... OMIM:614867
Spinocerebellar Ataxia Type 1
Bradykinesia, Impaired proprioception, Progressive cerebellar ataxia, Abnormal flash visual evoke... ORPHA:98755
Perry Syndrome
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism, Weight loss ORPHA:178509
Kohlschutter-Tonz Syndrome
Seizure, Myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:226750
Developmental And Epileptic Encephalopathy 106
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:620028
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Bilateral tonic-clonic seizure OMIM:620200
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Paroxysmal dyskinesia, Babinski sign, Chorea, Spasticity, Athetosis, Blepharospasm, Craniofacial ... OMIM:617282
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypertonia, Myoclonus, Exaggerated startle response, Dystonia, Ankle clonus OMIM:620423
Huntington Disease-Like 3
Abnormality of extrapyramidal motor function, Chorea, Spasticity, Seizure, Dystonia, Ataxia, Unst... OMIM:604802
Multiple System Atrophy
Bradykinesia, Female anorgasmia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, A... ORPHA:102
4H Leukodystrophy
Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Upper motor neuron dysf... ORPHA:289494
Mohr-Tranebjaerg Syndrome
Babinski sign, Oromandibular dystonia, Generalized dystonia, Inability to walk, Apraxia, Tremor, ... ORPHA:52368
Spontaneous Periodic Hypothermia
Seizure, Tremor, Ataxia, Gait disturbance ORPHA:29822
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Babinski sign, Impaired proprioception, Impaired vibration sensation at ankles, Lo... OMIM:615491
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Babinski sign, Hypertonia, Distal sensory impairment, Fasciculations, Incoordination, Impaired di... OMIM:616688
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Interictal epileptiform activity, Limb tremor, Hypertonia, Myoclonus OMIM:300699
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Fasciculations, Amyotrophic lateral sclerosis OMIM:608030
Creutzfeldt-Jakob Disease
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia OMIM:123400
Gm1 Gangliosidosis Type 1
Decerebrate rigidity, Spasticity, Exaggerated startle response ORPHA:79255
Spinocerebellar Ataxia 6
Abnormal vestibulo-ocular reflex, Progressive cerebellar ataxia, Incoordination, Truncal ataxia, ... OMIM:183086
Spinocerebellar Ataxia 44
Spasticity, Dysdiadochokinesis, Frequent falls, Gait ataxia, Ataxia, Dysmetria OMIM:617691
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Spasticity, Tremor, Poor motor coordination, Gait ataxia, Ataxia, Dysmetria ORPHA:1170
Phosphoserine Aminotransferase Deficiency
Hypertonia, Apnea, Myoclonus OMIM:610992
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Clonic seizure OMIM:617290
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Fasciculations, Decreased motor nerve conduction velocity OMIM:606595
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Abnormal pyramidal sign OMIM:608768
Developmental And Epileptic Encephalopathy 66
Focal-onset seizure, Generalized tonic seizure, Seizure, Focal tonic seizure, Bilateral tonic-clo... OMIM:618067
Developmental And Epileptic Encephalopathy 79
Bilateral tonic-clonic seizure with generalized onset, Seizure, Tonic seizure, Myoclonic seizure,... OMIM:618559
Developmental And Epileptic Encephalopathy 93
Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic s... OMIM:618012
Cardiomyopathy, Dilated, 2H
Tachypnea, Neonatal death OMIM:620203
Amyotrophic Lateral Sclerosis 1
Fasciculations, Spasticity, Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, P... OMIM:105400
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618470
Glutathionuria
Action tremor, Dysdiadochokinesis, Tremor OMIM:231950
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Hoffmann sign, Babinski sign, Fasciculations OMIM:620402
X-Linked Adrenoleukodystrophy
Paralysis, Hyperactivity, Incoordination, Clumsiness, Impotence, Gait disturbance, Paraparesis, H... ORPHA:43
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Progressive extrapyramidal muscular rigid... ORPHA:240071
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dystonia, Dysphagia, Generalized hypot... OMIM:233910
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Lower limb spasticity, Hyperactivity, Chorea, Waddling gait, Impulsivity, Gait ataxia, Hypotonia,... OMIM:620445
Sneddon Syndrome
Seizure, Chorea, Hemiparesis, Tremor ORPHA:820
Peho-Like Syndrome
Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus OMIM:617507
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:271980
Spinocerebellar Ataxia 34
Limb ataxia, Fasciculations, Spasticity, Dysdiadochokinesis, Intention tremor, Gait ataxia, Ataxi... OMIM:133190
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Torticollis, Writer's cramp, Axial dystonia, Craniofacial dystonia, Head trem... ORPHA:420492
Pontocerebellar Hypoplasia, Type 1E
EEG with burst suppression, Myoclonus OMIM:619303
Autosomal Recessive Spastic Paraplegia Type 75
Babinski sign, Spasticity, Titubation, Spastic paraplegia, Generalized hypotonia, Abnormal pyrami... ORPHA:459056
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Oculomotor apraxia, Incoordination, Seizure, Tremor, Ataxia, Abnormal pyramidal... OMIM:618060
Migraine, Familial Hemiplegic, 2
Apraxia, Focal motor seizure, Tremor, Episodic ataxia, Bilateral tonic-clonic seizure, Gait ataxi... OMIM:602481
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Focal-onset seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the... ORPHA:289266
Ataxia-Telangiectasia-Like Disorder 1
Oculomotor apraxia, Lower limb spasticity, Chorea, Dysdiadochokinesis, Frequent falls, Gait ataxi... OMIM:604391
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Bilateral tonic-clonic seizure OMIM:617862
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Ataxia, Myoclonus OMIM:545000
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Head tremor, Dystonia, Myoclonus, Impaired tandem gait, Hand tremor OMIM:619724
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hypertonia, Inability to walk, Hyperactivity, Rigidity, Self-injurious behavior, Choreoathetosis,... OMIM:620023
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Multiple System Atrophy, Parkinsonian Type
Bradykinesia, Female anorgasmia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, A... ORPHA:98933
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Craniofacial dystonia, ... OMIM:607483
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Erratic myoclonus, Ataxia, Myoclonus, Spastic tetraplegia, EEG with burst suppression OMIM:619971
Early Myoclonic Encephalopathy
Hypsarrhythmia, EEG abnormality, Myoclonus ORPHA:1935
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormality of pain sensation, Myoclonic absence seizure, Tremor, Generalized-onset seizure, Gait... ORPHA:544254
Pelizaeus-Merzbacher Disease
Generalized dystonia, Inability to walk, Writer's cramp, Broad-based gait, Seizure, Tremor, Inten... OMIM:312080
Developmental And Epileptic Encephalopathy 16
Abnormality of extrapyramidal motor function, Hemiparesis, Dystonia, Myoclonus OMIM:615338
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Fasciculations, Tongue fasciculations, Amyotrophic lateral sclerosis OMIM:613435
Spinocerebellar Ataxia Type 18
Titubation, Head tremor, Gait ataxia, Somatic sensory dysfunction, Dysmetria ORPHA:98771
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Status epilepticus, Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:613970
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:204200
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Bilateral tonic-cloni... OMIM:619913
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... OMIM:618433
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism OMIM:260540
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal sensory impairment OMIM:607734
Familial Infantile Bilateral Striatal Necrosis
Babinski sign, Hypertonia, Spasticity, Spastic tetraparesis, Frequent falls, Gait ataxia, Cogwhee... ORPHA:225154
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Bilateral tonic-clonic seizure OMIM:618237
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Steppage gait, Hypertonia, Distal sensory impairment, Tremor, Gait ataxia, Intenti... OMIM:616505
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the a... OMIM:618917
Intellectual Developmental Disorder, X-Linked 12
Hyperkinetic movements, Spasticity, Tremor, Gait disturbance, Hypotonia, Truncal obesity, Small f... OMIM:300957
Waisman Syndrome
Bradykinesia, Resting tremor, Seizure, Parkinsonism with favorable response to dopaminergic medic... OMIM:311510
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fasciculations, Tremor, Waddling gait, Shuffling gait, Loss of ambulation ORPHA:209335
Spinocerebellar Ataxia 21
Limb ataxia, Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor functio... OMIM:607454
Familial Infantile Myoclonic Epilepsy
Generalized myoclonic seizure, Simple febrile seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:352582
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Fasciculations, Impaired pain sensation, Tremor, Impaired distal ... OMIM:619574
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
EEG abnormality, Rigidity, Apnea, Myoclonus OMIM:300673
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Tremor, Episodic ataxia, Dystonia, Myoclonus, Choreoathetosis, Small for gestational age OMIM:312170
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Spinocerebellar Ataxia, Autosomal Recessive 12
Bilateral tonic-clonic seizure OMIM:614322
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting tremor, Ankle clonus... OMIM:612953
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Seizure, Tremor, Ataxia, Splenomegaly, Flexion contracture, Umbili... ORPHA:87876
Leukoencephalopathy With Ataxia
Limb ataxia, Action tremor, Gait ataxia OMIM:615651
Riboflavin Transporter Deficiency
Tremor, Ataxia, Dysphagia, Hypogonadism, Myoclonus, Hypotonia, Aggressive behavior ORPHA:97229
Spinocerebellar Ataxia, Autosomal Recessive 31
Tremor, Axial hypotonia, Dystonia, Ataxia, Dysphagia, Choreoathetosis, Bruxism, Self-mutilation OMIM:619422
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations OMIM:271200
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis OMIM:300894
Young-Onset Parkinson Disease
Bradykinesia, Agitation, Gait imbalance, Spasticity, Tremor, Impulsivity, Restless legs, Male sex... ORPHA:2828
Developmental And Epileptic Encephalopathy 72
Hypsarrhythmia, Hyperkinetic movements OMIM:618374
Amyotrophic Lateral Sclerosis 28
Chaddock reflex, Babinski sign, Fasciculations OMIM:620452
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Dystonia... OMIM:615530
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Lower limb spasticity, Hyperactivity, Chorea, Compulsive behaviors... ORPHA:485350
Perry Syndrome
Inappropriate behavior, Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Disinhibition, Parkin... OMIM:168605
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Truncal ataxia, Intention tremor, Ank... ORPHA:284289
Intellectual Developmental Disorder, Autosomal Recessive 38
Neonatal hypotonia, Hyperactivity, Recurrent hand flapping, Unsteady gait, Generalized hypotonia,... OMIM:615516
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Hypertonia, Spasticity, Exaggerated startle response OMIM:618367
Rolandic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Atypical absence seizure, F... ORPHA:1945
Ataxia-Telangiectasia-Like Disorder
Oculomotor apraxia, Chorea, Dysdiadochokinesis, Frequent falls, Gait ataxia, Intention tremor, Dy... ORPHA:251347
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements ORPHA:397933
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Babinski sign, Lower limb spasticity, Fasciculations, Tetraparesis, Spasticity, Ankle clonus, Abn... OMIM:613954
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Myoclonic status epilepticus, Focal tonic seizure, Bilateral tonic-clonic seizur... OMIM:617105
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Tetraplegia, Tremor, Impaired distal vibration sensation, Spasticity, Gait disturb... OMIM:616586
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Postural tremor, Ataxia, Generalized hypotonia, Hypotonia OMIM:300619
Foxg1 Syndrome
Hyperkinetic movements, Spasticity, Dystonia, Myoclonus, Choreoathetosis ORPHA:561854
Spinocerebellar Ataxia Type 13
Bradykinesia, Limb ataxia, Difficulty walking, Torticollis, Impaired distal vibration sensation, ... ORPHA:98768
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:604317
Spinocerebellar Ataxia Type 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Resting tremor, Impotence, G... ORPHA:458803
Autosomal Recessive Spastic Paraplegia Type 48
Spastic gait, Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Progressive spastic paraplegia ORPHA:306511
Rasmussen Subacute Encephalitis
Repeated focal motor seizures, Epilepsia partialis continua, Epileptic spasm, Focal-onset seizure... ORPHA:1929
Combined Oxidative Phosphorylation Deficiency 54
Hypertonia, Seizure, Tremor, Generalized-onset seizure, Hemiparesis, Obesity, Impaired vibratory ... OMIM:619737
Spinocerebellar Ataxia 27A
Limb ataxia, Abnormal vestibulo-ocular reflex, Gait ataxia, Postural tremor, Impaired vibratory s... OMIM:193003
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Tremor, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dystonia, Ataxia, Dysphagi... OMIM:614381
Joubert Syndrome 7
Oculomotor apraxia, Ataxia, Tachypnea, Central apnea, Episodic tachypnea OMIM:611560
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares... ORPHA:282166
Severe Neonatal-Onset Encephalopathy With Microcephaly
Seizure, Bilateral tonic-clonic seizure ORPHA:209370
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Resting tremor, Spasticity, Dysdiadoch... ORPHA:247234
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Polyphagia, Infantile muscular hypotonia, Inappropriate laughter... ORPHA:411515
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Generalized non-motor (absence) seizure, Seizure, Focal impaired awareness seizure, Bilateral ton... OMIM:619854
Primary Progressive Freezing Gait
Bradykinesia, Babinski sign, Difficulty walking, Gait imbalance, Shuffling gait, Frequent falls, ... ORPHA:75567
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Status epilepticus, Clonic s... OMIM:610539
Trisomy X
Premature ovarian insufficiency, Secondary amenorrhea, Tremor, Infantile muscular hypotonia, Atte... ORPHA:3375
Pyruvate Dehydrogenase Deficiency
Spasticity, Tremor, Seizure, Cerebral palsy, Gait disturbance, Dystonia, Ataxia, Abnormal pyramid... ORPHA:765
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Aminoacylase 1 Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:609924
Tetanus
Hypertonia, Respiratory distress, Tremor, Rigidity, Opisthotonus, Spasticity of pharyngeal muscle... ORPHA:3299
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Ataxia-Telangiectasia
Spasticity, Tremor, Seizure, Gait disturbance, Failure to thrive, Ataxia ORPHA:100
Juvenile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Poor motor coordination, Interictal EEG abnormality, Myoclonic spas... ORPHA:79264
Congenital Disorder Of Glycosylation, Type In
Spasticity, Ataxia, Myoclonus OMIM:612015
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Erectile dysfunction, Impaired distal vibration sensation, Impotence, Gait ataxia, ... ORPHA:99027
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Abnormality of extrapyramidal motor function, Poor fine motor coordi... OMIM:613280
Citrullinemia Type I
Torticollis, Spasticity, Ataxia, Ankle clonus, Tachypnea, Slurred speech ORPHA:247525
Developmental And Epileptic Encephalopathy 28
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Seizure, Fo... OMIM:616211
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Progressive cerebellar ataxia, Apraxia, Abnormal upper motor neuron morphology, Fa... ORPHA:275872
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Fasciculations, Distal sensory impairment OMIM:137200
Ataxia-Oculomotor Apraxia 4
Oculomotor apraxia, Tetraplegia, Obesity, Dystonia, Ataxia, Abnormal pyramidal sign, Impaired vib... OMIM:616267
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616281
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spastic dysarthria, Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Ataxia, Myoclonus, Spasti... ORPHA:313772
Familial Peripheral Male-Limited Precocious Puberty
Attention deficit hyperactivity disorder, Male infertility, Oligozoospermia ORPHA:3000
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Interictal epileptiform activity, EEG with irregular generaliz... ORPHA:1942
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Fasciculations, Decreased motor nerve conduction velocity, Decreased compound muscle action poten... OMIM:600882
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, EEG abnormality, Ataxia, Myoclonus OMIM:256730
Myopathy With Extrapyramidal Signs
Hepatomegaly, Difficulty walking, Abnormality of extrapyramidal motor function, Chorea, Seizure, ... OMIM:615673
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Fasciculations, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Fasciculations, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Neonatal hypotonia, Decreased sensory nerve conduction velocity, Decreased nerve conduction veloc... OMIM:218000
Developmental And Epileptic Encephalopathy 90
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:301058
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:620292
Developmental And Epileptic Encephalopathy 61
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal clonic seizure OMIM:617933
Unilateral Focal Polymicrogyria
Simple febrile seizure, Focal motor seizure, Seizure, Bilateral tonic-clonic seizure with focal o... ORPHA:268947
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, EEG abnormality, Apraxia, Myoclonus OMIM:618193
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Poor fine motor coordination, Hypotonia OMIM:617182
Nipah Virus Disease
Seizure, Tremor, Myoclonus ORPHA:99825
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Limb hypertonia, Seizure, Tremor, Athetosis, Dystonia, Ataxia, Spastic tetraplegia, M... OMIM:617710
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615637
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Babinski sign, Gait imbalance, Oculomotor apraxia, Head tremor, Dystonia, Ataxia, Abnormal pyrami... ORPHA:64753
Severe Canavan Disease
Seizure, Bilateral tonic-clonic seizure ORPHA:314911
Machado-Joseph Disease
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula... OMIM:109150
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure, Tonic se... OMIM:615476
Epilepsy, Progressive Myoclonic, 10
Generalized myoclonic seizure, Progressive cerebellar ataxia, Spasticity, Seizure, Ataxia, Spasti... OMIM:616640
Aromatic L-Amino Acid Decarboxylase Deficiency
Babinski sign, Oculogyric crisis, Limb hypertonia, Tremor, Failure to thrive, Dystonia, Hypotonia... ORPHA:35708
Adenylosuccinase Deficiency
Inability to walk, Hyperactivity, Spasticity, Gait ataxia, Inappropriate laughter, Opisthotonus, ... OMIM:103050
Postencephalitic Parkinsonism
Bradykinesia, Babinski sign, Akinesia, Oculogyric crisis, Resting tremor, Tremor by anatomical si... ORPHA:97349
Myoclonus, Intractable, Neonatal
Chorea, Apnea, Athetosis, Myoclonus OMIM:617235
Multifocal Motor Neuropathy
Fasciculations, Motor conduction block ORPHA:641
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Respiratory distress OMIM:267450
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Abnormality of extrapyramidal motor function, Spasticity, Ataxia, Myoclonus... OMIM:614299
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Dystonia, Ataxia, Myoclonus OMIM:620094
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tip-toe gait, Babinski sign, Tremor, Gait disturbance, Spastic paraplegia ORPHA:83629
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Ataxia With Vitamin E Deficiency
Impaired proprioception, Progressive cerebellar ataxia, Positive Romberg sign, Dysdiadochokinesis... OMIM:277460
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:488635
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Tremor, Gait disturbance, Upper limb spasticity, Hypotonia, Overweight ORPHA:457240
Spinocerebellar Ataxia 13
Limb ataxia, Progressive cerebellar ataxia, Limb dysmetria, Spasticity, Impaired distal vibration... OMIM:605259
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity, Spasticity, Generalized hypotonia, Aggressive behavior ORPHA:457260
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Fasciculations, Tetraplegia, Hand tremor, Distal sensory impairment OMIM:604484
Neuroferritinopathy
Bradykinesia, Babinski sign, Difficulty walking, Writer's cramp, Leg dystonia, Resting tremor, Ch... ORPHA:157846
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Seizure, Tremor ORPHA:276608
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Tremor, Gait ataxia, Hypogonadism, Generalized hypotonia, Hypotonia, Aggressive be... OMIM:300354
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:619428
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Photosensitive myoclonic seizure, Anemia, Tremor, Gait disturbance, Cryptorchidism ORPHA:1192
Developmental And Epileptic Encephalopathy 47
Status epilepticus, Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:617166
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614559
Pontocerebellar Hypoplasia, Type 1A
Limb ataxia, Fasciculations, Tongue fasciculations, Ataxia, Hand tremor OMIM:607596
Juvenile Myoclonic Epilepsy
Morning myoclonic jerks, EEG with polyspike wave complexes ORPHA:307
Sneddon Syndrome
Hemiplegia, Seizure, Tremor, Impaired distal tactile sensation OMIM:182410
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor function, Spasticity, ... OMIM:614298
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
Combined Oxidative Phosphorylation Deficiency 32
Inability to walk, Spasticity, Tremor, Dystonia, Dysphagia, Hypotonia, Choreoathetosis OMIM:617664
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Hyperekplexia 4
Hypsarrhythmia, Hypertonia, Myoclonus OMIM:618011
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Impaired proprioception, Oculomotor apraxia, Chorea, Tremor, Impaired distal vibrati... OMIM:606002
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617468
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hypertonia, Tongue thrusting, Broad-based gait, Hyperactivity, Progressive spasticity, Axial hypo... OMIM:617865
X-Linked Cerebral Adrenoleukodystrophy
Hoffmann sign, Difficulty walking, Inability to walk, Oculomotor apraxia, Lower limb spasticity, ... ORPHA:139396
Sandhoff Disease, Juvenile Form
Acroparesthesia, Fasciculations, Incoordination, Abnormality of extrapyramidal motor function, At... ORPHA:309162
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Difficulty walking, Distal sensory impairment, Inability to walk, Truncal ataxia, Dy... OMIM:617675
Ddost-Cdg
Failure to thrive, Seizure, Tremor, Oromotor apraxia ORPHA:300536
X-Linked Creatine Transporter Deficiency
Hypertonia, Hyperactivity, Chorea, Athetosis, Dystonia, Ataxia, Hypotonia, Self-mutilation ORPHA:52503
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Stereotypical hand wringing, Gait disturbance, Inappropriate laugh... OMIM:614104
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Degeneration of anterior horn cells, Tachypnea, Decreased nerve conduction velocity, Diaphragmati... OMIM:604320
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Shuffling gait, Gait disturbance, Rigidity, Dystonia, Loss of ambul... OMIM:168601
Hereditary Hyperekplexia
Hypertonia, Fasciculations, Spasticity, Seizure, Gait disturbance, Rigidity, Ataxia, Myoclonus ORPHA:3197
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Tremor, Rigidity, Dystonia, Dysphagia, Parkinsonism, Short stepped ... OMIM:168600
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Bradykinesia, Nail-biting, Hyperactivity, Slowed slurred speech, Attentio... OMIM:619827
Progressive Supranuclear Palsy
Bradykinesia, Falls, Tremor, Blepharospasm, Abnormal synaptic transmission, Rigidity, Dystonia, U... ORPHA:683
Oromandibular Dystonia
Hyperkinetic movements, Torticollis, Blepharospasm, Lingual dystonia, Limb dystonia, Generalized ... ORPHA:93958
Neurodegeneration With Brain Iron Accumulation 2B
Bradykinesia, Babinski sign, Hypertonia, Hyperactivity, Chorea, Spasticity, Dysdiadochokinesis, I... OMIM:610217
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Truncal ataxia, Head titubation, Dystonia, Ataxia, Myoclonus, Dysmetria OMIM:250620
Mepan Syndrome
Axial dystonia, Chorea, Spasticity, Craniofacial dystonia, Limb dystonia, Dystonia, Ataxia, Myocl... ORPHA:508093
Sialidosis Type 1
Decreased nerve conduction velocity, Tremor, Gait disturbance, Ataxia, Hypotonia, Myoclonus, EEG ... ORPHA:812
Sporadic Creutzfeldt-Jakob Disease
Babinski sign, Abnormality of extrapyramidal motor function, Hypsarrhythmia, Spasticity, Upper mo... ORPHA:204
Childhood-Onset Spasticity With Hyperglycinemia
Babinski sign, Hypertonia, Spastic dysarthria, Progressive spasticity, Ataxia, Myoclonus, Spastic... ORPHA:401866
Episodic Ataxia Type 7
Hyperkinetic movements, Episodic ataxia ORPHA:209970
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor, Weight loss OMIM:613239
Joubert Syndrome 9
Oculomotor apraxia, Apnea, Episodic tachypnea OMIM:612285
Spinocerebellar Ataxia 36
Limb ataxia, Babinski sign, Hypertonia, Fasciculations, Tongue fasciculations, Incoordination, Tr... OMIM:614153
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Tremor, Recurrent hand flappin... ORPHA:98794
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Babinski sign, Hypertonia, Limb hypertonia, Myoclonic spasms, Clonus, Rigidity, Apnea, EEG with b... OMIM:614498
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Respiratory distress OMIM:263000
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Chorea, Recurrent hand flapping, Cerebral palsy, Motor stereotypy, Myoclonus, Atte... OMIM:617600
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Babinski sign, Hypertonia, Dysdiadochokinesis, Intention tremor, Ataxia, Myoclonus, Dysmetria OMIM:618356
Glycosylphosphatidylinositol Biosynthesis Defect 17
Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:618010
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Tremor OMIM:617744
Coenzyme Q10 Deficiency, Primary, 3
Focal motor status epilepticus, Bilateral tonic-clonic seizure with focal onset OMIM:614652
Oculopharyngodistal Myopathy 3
Tremor, Ataxia OMIM:619473
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Fasciculations, Impaired distal vibration sensation, Distal sensory impairment OMIM:614436
Congenital Disorder Of Glycosylation, Type Ie
Tremor, Failure to thrive, Ataxia, Hypotonia, Generalized hypotonia, EEG abnormality OMIM:608799
48,Xxyy Syndrome
Azoospermia, Infertility, Tremor, Hypergonadotropic hypogonadism, Ataxia, Motor stereotypy, Hypot... ORPHA:10
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Paraplegia, Positive Romberg sign, Truncal ataxia, Tremor, Spasticity, Seizure, Inte... OMIM:105210
Jaberi-Elahi Syndrome
Inability to walk, Broad-based gait, Appendicular spasticity, Tremor, Bilateral tonic-clonic seiz... OMIM:617988
Mitochondrial Complex I Deficiency, Nuclear Type 31
Dysmetria, Myoclonus OMIM:618251
D-2-Hydroxyglutaric Aciduria 1
Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:600721
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Myoclonus OMIM:610090
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Hypotonia, Dysmetria OMIM:615578
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Apnea, Ataxia, Myoclonus OMIM:618225
Gerstmann-Straussler-Scheinker Syndrome
Abnormality of extrapyramidal motor function, Dysesthesia, Limb myoclonus, Gait ataxia, Acropares... ORPHA:356
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Dystonia, Myoclonus, Laryngeal dystonia OMIM:616398
Autosomal Dominant Spastic Paraplegia Type 9A
Spastic gait, Babinski sign, Spastic dysarthria, Abnormality of pain sensation, Falls, Impaired v... ORPHA:447753
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Babinski sign, Truncal ataxia, Spasticity, Dystonia, Ataxia, Myoclonus OMIM:252011
Late Infantile Neuronal Ceroid Lipofuscinosis
Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Cortical myoclonus, ... ORPHA:168491
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Generalized non-motor (absence) seizure, Seizure, Multifocal seizures, Bilateral tonic-clonic sei... OMIM:618170
Spinocerebellar Ataxia 1
Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Fasciculation... OMIM:164400
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Apraxia, Abnormal upper motor neuron morphology, Spasticity, Myoclonus, EEG abnorm... OMIM:221770
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Bradykinesia, Premature ovarian insufficiency, Secondary amenorrhea, Resting tremor, Impaired dis... OMIM:157640
Infantile Neuroaxonal Dystrophy
Hyperactivity, Spasticity, Progressive spasticity, Spastic tetraparesis, Impulsivity, Gait distur... ORPHA:35069
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Spasticity, Myoclonus OMIM:225753
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure OMIM:615031
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Oculomotor apraxia, Hyperactivity, Spasticity, Tremor, Frequent falls, Axial h... OMIM:612716
Myoclonic Epilepsy Of Lafora 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:254780
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Difficulty walking, Hyperkinetic movements, Inability to walk, Truncal ataxia, Chorea, Athetosis,... OMIM:615356
Early-Onset Lafora Body Disease
Seizure, Spastic tetraparesis, Ataxia, Myoclonus ORPHA:324290
Mitochondrial Complex I Deficiency, Nuclear Type 13
Focal motor seizure, Bilateral tonic-clonic seizure OMIM:618235
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Difficulty walking, Fasciculations, Tremor, Frequent falls, ... ORPHA:329478
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Seizure, Focal myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:464282
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:300558
Amish Nemaline Myopathy
Neonatal hypotonia, Tremor ORPHA:98902
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Bilateral tonic-clonic seizure OMIM:620688
Pelizaeus-Merzbacher Disease, Connatal Form
Difficulty walking, Inability to walk, Lower limb spasticity, Titubation, Dystonic gait, Ataxia, ... ORPHA:280210
Tyrosinemia Type 2
Seizure, Tremor, Ataxia ORPHA:28378
Classic Phenylketonuria
Hypertonia, Paraplegia, Tremor, Hemiplegia, Attention deficit hyperactivity disorder, Self-injuri... ORPHA:79254
Autosomal Recessive Ataxia, Beauce Type
Babinski sign, Lower limb spasticity, Fasciculations, Spasticity, Upper motor neuron dysfunction,... ORPHA:88644
Spermatogenic Failure 77
Male infertility, Oligozoospermia, Multiflagellar spermatozoa, Azoospermia OMIM:620103
Aceruloplasminemia
Limb ataxia, Akinesia, Torticollis, Chorea, Tremor, Blepharospasm, Craniofacial dystonia, Gait at... ORPHA:48818
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Ataxia, Motor stereotypy, Hypotonia, Self-injurious behavior, Paroxysm... ORPHA:228402
3-Methylglutaconic Aciduria, Type Viia
Atypical absence seizure, Myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic se... OMIM:619835
Childhood Absence Epilepsy
Typical absence seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Febrile seizu... ORPHA:64280
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:615716
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Tremor, Spasticity, Rigidity OMIM:176500
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Slurred speech, Myoclonus ORPHA:3327
Optic Atrophy 11
Hyperkinetic movements, Hyperactivity, Athetosis, Gait apraxia, Stereotypical body rocking, Ataxi... OMIM:617302
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619877
Huntington Disease
Bradykinesia, Babinski sign, Chorea, Poor fine motor coordination, Involuntary movements, Clonus,... ORPHA:399
Parkinson Disease 8, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607060
Dk1-Cdg
Seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:91131
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Focal aware motor seizure, Refractory status epileptic... ORPHA:363558
Adult-Onset Dystonia-Parkinsonism
Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor... ORPHA:199351
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Alzheimer Disease 3
Babinski sign, Apraxia, Optic ataxia, Abnormality of extrapyramidal motor function, Spastic tetra... OMIM:607822
Mitochondrial Complex I Deficiency, Nuclear Type 19
Rigidity, Athetosis, Myoclonus OMIM:618241
Neurodegeneration With Brain Iron Accumulation 1
Obsessive-compulsive trait, Babinski sign, Bradykinesia, Akinesia, Hyperactivity, Abnormality of ... OMIM:234200
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Spastic Paraplegia 29, Autosomal Dominant
Babinski sign, Lower limb spasticity, Hyperactivity, Clonus, Spastic paraplegia, Upper limb spast... OMIM:609727
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Spasticity, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:616840
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Spasticity, Ataxia, Motor stereotypy, Generalized hypotonia, Attention deficit hyp... OMIM:610042
Xeroderma Pigmentosum, Complementation Group F
Decreased body weight, Tremor, Ataxia OMIM:278760
Lafora Disease
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Erra... ORPHA:501
Lissencephaly Syndrome, Norman-Roberts Type
Seizure, Hypoplastic spleen ORPHA:89844
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Spastic gait, Babinski sign, Paroxysmal dyskinesia, Spastic paraplegia, Dystonia, Ataxia, Myoclon... OMIM:620538
Developmental And Epileptic Encephalopathy 101
Apnea, Opisthotonus, Myoclonus OMIM:619814
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea OMIM:620085
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Tachypnea OMIM:616414
Metachromatic Leukodystrophy
Tip-toe gait, Decreased nerve conduction velocity, Incoordination, Decerebrate rigidity, Tremor, ... ORPHA:512
Gm1-Gangliosidosis, Type Iii
Dystonia, Ataxia, Slurred speech, Myoclonus OMIM:230650
Chronic Pneumonitis Of Infancy
Tachypnea, Intercostal retractions, Respiratory distress ORPHA:91359
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Abnormality of extrapyramidal motor function, Distal sensory impairment, Myoclonus OMIM:604218
Hsd10 Disease, Infantile Type
Hyperkinetic movements, Spastic tetraparesis, Dystonia, Poor coordination, Choreoathetosis, Spast... ORPHA:391428
Posttransplant Acute Limbic Encephalitis
EEG with abnormally slow frequencies, Ataxia, EEG with focal epileptiform discharges, Myoclonus ORPHA:163921
Proximal 16P11.2 Microduplication Syndrome
Decreased body mass index, Failure to thrive, Seizure, Tremor ORPHA:370079
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Hypotonia OMIM:614857
Coenzyme Q10 Deficiency, Primary, 1
Right hemiplegia, Tremor, Hypergonadotropic hypogonadism, Ataxia, Dysphagia, Hypotonia, Myoclonus... OMIM:607426
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Babinski sign, Spasticity, Spastic tetraparesis, Ataxia, Tachypnea OMIM:615838
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Lower limb spasticity, Oromotor apraxia, Spasticity, Paraparesis, Dystonia, Ataxia,... OMIM:617854
Glutaryl-Coa Dehydrogenase Deficiency
Chorea, Seizure, Tremor, Athetosis, Poor motor coordination, Limb dystonia, Infantile spasms, Rig... ORPHA:25
Lissencephaly 9 With Complex Brainstem Malformation
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awar... OMIM:618325
Unilateral Polymicrogyria
Abnormal posturing, Poor fine motor coordination, Involuntary movements, Axial hypotonia, Hemipar... ORPHA:268943
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure ORPHA:457205
Oculopharyngodistal Myopathy 4
Postural tremor, Tremor OMIM:619790
Angelman Syndrome
Broad-based gait, Hyperactivity, Limb tremor, Ataxia, Generalized hypotonia, Progressive gait ata... OMIM:105830
Angelman Syndrome
Inability to walk, Tongue thrusting, Broad-based gait, Hyperactivity, Tremor, Recurrent hand flap... ORPHA:72
Alfadhel Syndrome
Seizure, Bilateral tonic-clonic seizure OMIM:620655
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Fasciculations, Babinski sign, Lower limb spasticity OMIM:615290
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Generalized-onset seizure, Neonatal death, Bilateral tonic-clonic ... OMIM:615501
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Hyperkinetic movements, Truncal ataxia ORPHA:369847
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Babinski sign, Spasticity, Tremor, Spastic paraplegia, Ataxia, Dysmetria OMIM:618527
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Rigidity, Dystonia, Myoclonus OMIM:600795
3-Methylglutaconic Aciduria, Type Viib
Hyperkinetic movements, Spasticity, Tremor, Dystonia, Ataxia, Opisthotonus, Myoclonus, Choreoathe... OMIM:616271
Serotonin Syndrome
Hypertonia, Tremor, Clonus, Rigidity, Myoclonus, Tachypnea ORPHA:43116
Holocarboxylase Synthetase Deficiency
Tachypnea, Ataxia, Respiratory distress ORPHA:79242
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Involuntary movements, Exaggerated startle response, Myoclonus ORPHA:438213
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Mitochondrial Dna Depletion Syndrome 19
Multifocal epileptiform discharges, Spasticity, Tetraparesis, Myoclonus OMIM:618972
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Seizure, Bilater... ORPHA:98795
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Impaired proprioception, Fasciculations, Positive Romberg sign, Impaired pain sensat... ORPHA:101085
Houge-Janssens Syndrome 3
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Bil... OMIM:618354
Thyrocerebroretinal Syndrome
Ataxia, Slurred speech, Myoclonus OMIM:274240
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
Joubert Syndrome 3
Oculomotor apraxia, Ataxia, Central apnea, Episodic tachypnea OMIM:608629
Brody Disease
Fasciculations, Somatic sensory dysfunction OMIM:601003
Amyotrophic Lateral Sclerosis 8
Fasciculations, Abnormal pyramidal sign, Amyotrophic lateral sclerosis, Postural tremor OMIM:608627
Hereditary Late-Onset Parkinson Disease
Bradykinesia, Agitation, Akinesia, Resting tremor, Parkinsonism with favorable response to dopami... ORPHA:411602
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Kallmann Syndrome
Erectile dysfunction, Paraplegia, Tremor, Dyspareunia, Gait disturbance, Ataxia, Hypotonia, Prima... ORPHA:478
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials, Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure OMIM:272300
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor ORPHA:99965
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
47,Xyy Syndrome
Neonatal hypotonia, Male infertility, Azoospermia, Hyperactivity, Oligozoospermia, Impulsivity, A... ORPHA:8
Hereditary Pulmonary Alveolar Proteinosis
Tachypnea, Respiratory distress ORPHA:264675
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Myoclonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:619983
N-Acetylglutamate Synthase Deficiency
Tachypnea, Hypertonia, Respiratory distress OMIM:237310
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Tremor, Impotence, Rigidity, Ataxia, Parkinsonism OMIM:146500
Typhoid
Hypertonia, Tremor, Ataxia ORPHA:99745
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormality of extrapyramidal motor function, Spasticity, Hemiplegia/hemiparesis, Myoclonus, Abno... ORPHA:79279
Marbach-Schaaf Neurodevelopmental Syndrome
Neonatal hypotonia, Hemidystonia, Torticollis, Tremor, Recurrent hand flapping, Speech apraxia, A... OMIM:619680
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Babinski sign, Hyperkinetic movements, Spasticity, Gait ataxia, Ataxia OMIM:620089
Charcot-Marie-Tooth Disease Type 4B2
Tip-toe gait, Decreased distal sensory nerve action potential, Difficulty walking, Distal sensory... ORPHA:99956
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Myoclonus OMIM:619057
Insulinoma
Abnormality of pain sensation, Seizure, Increased body weight, Tremor, Paresthesia ORPHA:97279
Behavioral Variant Of Frontotemporal Dementia
Fasciculations, Abnormality of extrapyramidal motor function, Upper motor neuron dysfunction, EEG... ORPHA:275864
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Spasticity, Hyperkinetic movements, Dystonia, Athetosis OMIM:612073
Surfactant Metabolism Dysfunction, Pulmonary, 4
Tachypnea OMIM:300770
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hypertonia, Hyperkinetic movements OMIM:236270
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Generalized-onset seizure, Intention tremor, Action tremor, Gait ataxia, Unsteady gait, Myoclonus... OMIM:254900
Purine Nucleoside Phosphorylase Deficiency
Hypertonia, Hyperactivity, Spasticity, Cerebral palsy, Ataxia, Hypotonia, Spastic paraparesis, Ab... ORPHA:760
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Tremor, Opisthotonus OMIM:250800
Den Hoed-De Boer-Voisin Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal myoclonic seizure, Noc... OMIM:619229
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Spermatogenic Failure 14
Male infertility, Round spermatid arrest, Azoospermia OMIM:615842
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tip-toe gait, Decreased distal sensory nerve action potential, Babinski sign, Difficulty walking,... ORPHA:466768
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Early Infantile Epileptic Encephalopathy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal-onset seizure, Spastic... ORPHA:1934
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Seizure, Tremor, Rigidity, Myoclonic seizure, Ataxia, Tetraparesis OMIM:617186
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia OMIM:618086
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Poliomyelitis
Fatigable weakness of respiratory muscles, Hyperkinetic movements, Fasciculations, Paraparesis, P... ORPHA:2912
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Tremor OMIM:605355
Congenital Bile Acid Synthesis Defect Type 4
Seizure, Tremor, Ataxia ORPHA:79095
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
Amyotrophic Lateral Sclerosis
Babinski sign, Fatigable weakness of respiratory muscles, Fatigable weakness of bulbar muscles, F... ORPHA:803
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Lower limb spasticity, Hyperactivity, Cerebral palsy, Stereotypical han... ORPHA:163681
Ataxia-Telangiectasia
Progressive cerebellar ataxia, Inability to walk, Dysdiadochokinesis, Tremor, Myoclonus, Hypoplas... OMIM:208900
Brain-Lung-Thyroid Syndrome
Apraxia, Falls, Hyperactivity, Chorea, Incoordination, Compulsive behaviors, Intention tremor, Ab... ORPHA:209905
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Difficulty walking, Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Generalized hypoto... ORPHA:502423
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Seizure, Tremor ORPHA:397744
Alternating Hemiplegia Of Childhood
Paroxysmal dyskinesia, Oculomotor apraxia, Chorea, Focal motor seizure, Tremor, Seizure, Bilatera... ORPHA:2131
Microtriplication 11Q24.1
Speech apraxia, Hyperkinetic movements ORPHA:289522
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypertonia, EEG with polyspike wave complexes, EEG with focal sharp waves, Spastic tetraparesis, ... ORPHA:284417
Neurogenic Arthrogryposis Multiplex Congenita
Fasciculations, Respiratory distress ORPHA:1143
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Seizure, Tremor, Bilateral tonic-clonic seizure with focal onset, Obesity, Unstea... OMIM:614947
Lissencephaly Due To Tuba1A Mutation
Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:171680
Autosomal Recessive Spastic Paraplegia Type 77
Bradykinesia, Babinski sign, Scissor gait, Paroxysmal dystonia, Lower limb spasticity, Intention ... ORPHA:466722
Propionic Acidemia
Tachypnea, Apnea, Limb hypertonia OMIM:606054
3-Hydroxy-3-Methylglutaric Aciduria
Spastic hemiparesis, Hypsarrhythmia, Spasticity, Apnea, Ataxia, Myoclonus, Tachypnea, EEG abnorma... ORPHA:20
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:79243
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Babinski sign, Hypertonia, Spasticity, Cerebral palsy, Limb dystonia, Clonus, Opisthotonus, Myocl... OMIM:619847
Gracile Bone Dysplasia
Seizure, Hypoplastic spleen, Asplenia OMIM:602361
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Hyperkinetic movements, EEG with spike-wave complexes, Athetoid cerebral palsy, Ch... ORPHA:522077
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Fasciculations, Clumsiness, Impaired vibration sensation in the lower limbs, Frequent falls ORPHA:521411
Hyperlysinemia
Tip-toe gait, EEG with spike-wave complexes, Neck hypertonia, Tremor, Spastic tetraparesis, Poor ... ORPHA:2203
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Episodic tachypnea ORPHA:2872
Congenital Disorder Of Glycosylation, Type Ij
Hypertonia, Hypsarrhythmia, Tremor, Hypotonia, Generalized hypotonia OMIM:608093
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Abnormal pyramidal sign, Involuntary movements, Dysmetria, Myoclonus OMIM:619780
Gaucher Disease, Type Iii
Spastic paraparesis, Ataxia, Myoclonus OMIM:231000
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:544503
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Nocturnal seizures, Bilateral tonic-clonic seizure ORPHA:98784
Mirage Syndrome
Anemia, Paraplegia, Seizure, Decreased testicular size, Hypoplastic spleen, Leukopenia, Thrombocy... OMIM:617053
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Alexander Disease Type Ii
Babinski sign, Spasticity, Rigidity, Ataxia, Spastic paraparesis, Palatal tremor ORPHA:363722
Chediak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Lymphadenopathy, Hepatomegaly, Seizure, Tremor, Gait disturba... OMIM:214500
Niemann-Pick Disease Type C
Focal-onset seizure, Chorea, Limb dystonia, Ataxia, Splenomegaly, Myoclonus, Clumsiness, Jaundice... ORPHA:646
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Babinski sign, Spasticity, Intention tremor, Rigidity, Dystonia, Parkinsonism, Myoc... ORPHA:171695
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Chorea, Lingual dysto... ORPHA:2388
Pontocerebellar Hypoplasia, Type 7
Hypertonia, Oculomotor apraxia, Tongue fasciculations, Spasticity, Spastic paraplegia, Apnea, Ata... OMIM:614969
Infant Acute Respiratory Distress Syndrome
Tachypnea, Nasal flaring ORPHA:70587
D-Glyceric Aciduria
Seizure, Myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure, Status epilepticus OMIM:220120
Wars2-Related Combined Oxidative Phosphorylation Defect
Difficulty walking, Limb hypertonia, Tremor, Athetosis, Limb dystonia, Infantile muscular hypoton... ORPHA:572798
Developmental And Epileptic Encephalopathy 111
Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Convulsive status epilepti... OMIM:620504
Recurrent Respiratory Papillomatosis
Tachypnea, Respiratory distress ORPHA:60032
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure OMIM:271900
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206436
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypsarrhythmia, Multifocal epileptiform discharges, Myoclonus ORPHA:411986
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:618381
Tick-Borne Encephalitis
Fatigable weakness of respiratory muscles, Hyperkinetic movements, Tongue fasciculations, Incoord... ORPHA:297
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Amyotrophy, Monomelic
Fasciculations OMIM:602440
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:488613
Mitochondrial Trifunctional Protein Deficiency 2
Seizure, Neonatal death, Bilateral tonic-clonic seizure OMIM:620300
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Tachypnea, Choreoathetosis, Ataxia, Respiratory distress OMIM:610978
Spermatogenic Failure 13
Male infertility, Azoospermia OMIM:615841
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Generalized myoclonic seizure, Infantile spasms, Seizure, Bilateral tonic-... ORPHA:480864
Chromosome 22Q13 Duplication Syndrome
Status epilepticus, Bilateral tonic-clonic seizure OMIM:615538
Wolfram Syndrome 1
Seizure, Tremor, Ataxia OMIM:222300
Surfactant Metabolism Dysfunction, Pulmonary, 1
Tachypnea, Apnea, Neonatal death OMIM:265120
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic s... OMIM:301091
Developmental And Epileptic Encephalopathy 89
Hypertonia, Hyperkinetic movements, Hypsarrhythmia, Spasticity, Neonatal death, Tetraparesis, EEG... OMIM:619124
Japanese Encephalitis
Pill-rolling tremor, Hypertonia, Paralysis, Respiratory distress, Respiratory paralysis, Abnormal... ORPHA:79139
Leukodystrophy, Hypomyelinating, 10
Babinski sign, Spasticity, Hyperkinetic movements OMIM:616420
Pseudohypoparathyroidism Type 2
Laryngeal dystonia, Paresthesia, Myoclonic spasms ORPHA:94090
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Hypsarrhythmia, Myoclonus OMIM:619060
Joubert Syndrome With Renal Defect
Oculomotor apraxia, Seizure, Tremor, Gait disturbance, Ataxia ORPHA:220497
X-Linked Intellectual Disability Due To Gria3 Mutations
Status epilepticus, Seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:364028
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:42
Scrub Typhus
Lymphadenopathy, Seizure, Tremor, Splenomegaly ORPHA:83317
Inclusion Body Myopathy And Brain White Matter Abnormalities
Fasciculations, Babinski sign OMIM:619733
Multifocal Atrial Tachycardia
Tachypnea ORPHA:3282
Schindler Disease, Type I
Spasticity, Myoclonus OMIM:609241
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bilateral tonic-clonic seizure ORPHA:199354
Abeta Amyloidosis, Iowa Type
Myoclonus ORPHA:324708
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Clonic seizure... OMIM:619580
Acute Lung Injury
Tachypnea, Respiratory distress ORPHA:178320
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Tremor, Ataxia OMIM:201100
Triosephosphate Isomerase Deficiency
Spasticity, Tremor, Failure to thrive, Dystonia, Unsteady gait, Generalized hypotonia, Hypotonia OMIM:615512
Benign Samaritan Congenital Myopathy
Fasciculations ORPHA:324581
Combined Oxidative Phosphorylation Deficiency 27
Chorea, Dystonia, Opisthotonus, Myoclonus, Tetraparesis OMIM:616672
Joubert Syndrome With Hepatic Defect
Cirrhosis, Hepatomegaly, Oculomotor apraxia, Inguinal hernia, Intrahepatic biliary atresia, Seizu... ORPHA:1454
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Seizure, Tremor, Intention tremor, Failure to thrive, Ataxia, Small for gestational age OMIM:614052
Joubert Syndrome
Oculomotor apraxia, Seizure, Tremor, Gait disturbance, Ataxia ORPHA:475
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Focal impaired awareness seizure, Seizure, Focal myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:369929
Supranuclear Palsy, Progressive, 1
Bradykinesia, Akinesia, Gait imbalance, Retrocollis, Axial dystonia, Falls, Tremor, Limb dystonia... OMIM:601104
Pelger-Huet Anomaly
Seizure, Bilateral tonic-clonic seizure OMIM:169400
Alexander Disease
Chorea, Tetraplegia, Tremor, Spasticity, Gait disturbance, Clonus, Failure to thrive, Ataxia, Hyp... ORPHA:58
D-Glyceric Aciduria
Chorea, Spasticity, Myoclonus ORPHA:941
Ring Chromosome Y Syndrome
Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Female infertility, S... ORPHA:261529
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Purine Nucleoside Phosphorylase Deficiency
Tremor, Failure to thrive, Ataxia, Generalized hypotonia, Hypotonia, Tetraparesis, Spastic diplegia OMIM:613179
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Male infertility, Oligozoospermia ORPHA:48
3-Methylglutaconic Aciduria Type 7
Hypertonia, Abnormality of extrapyramidal motor function, Spasticity, Progressive extrapyramidal ... ORPHA:445038
Intellectual Developmental Disorder, Autosomal Dominant 42
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized tonic seizure, Seizure,... OMIM:616973
Pontocerebellar Hypoplasia, Type 1D
Fasciculations, Tongue fasciculations, Spasticity OMIM:618065
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Peho Syndrome
Hypsarrhythmia, Undetectable visual evoked potentials, Myoclonus OMIM:260565
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Speech apraxia, Apnea, Myoclonus, EEG abnormality ORPHA:314655
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Positive Romberg sign, Dysdiadochokinesis, Intention tremor, Clonus, Nonprogressiv... OMIM:301310
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hyperkinetic movements, Oculomotor apraxia, Chorea, Athetosis, Lingual dystonia, Action tremor, D... ORPHA:404454
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizu... OMIM:614207
Cockayne Syndrome Type 1
Difficulty walking, Lower limb spasticity, Tremor, Gait disturbance, Absent brainstem auditory re... ORPHA:90321
Multiple Mitochondrial Dysfunctions Syndrome 1
Abnormality of extrapyramidal motor function, Spastic tetraparesis, Neonatal death, Opisthotonus,... OMIM:605711
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea, Ataxia ORPHA:2318
Full Schwannomatosis
Fasciculations, Paresthesia, Hypoesthesia ORPHA:93921
Fatal Familial Insomnia
Apnea, Ataxia, Myoclonus OMIM:600072
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Seizure, Focal myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:481152
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:620070
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Interictal epileptiform activity, Truncal ataxia, Hyperkinetic movements, Ataxia OMIM:300243
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
High Altitude Pulmonary Edema
Tachypnea ORPHA:330012
Leigh Syndrome
Hyperkinetic movements, Abnormality of extrapyramidal motor function, Chorea, Spasticity, Athetos... ORPHA:506
Pyridoxal Phosphate-Responsive Seizures
Hypertonia, EEG with burst suppression, Myoclonus ORPHA:79096
Bilateral Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Seizure, Infantile spasms, Generalized-onset ... ORPHA:268940
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Hypsarrhythmia, Clonus, Involuntary movements, Opisthotonus, Myoclonus OMIM:620352
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Apnea, Myoclonus OMIM:614462
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism ORPHA:1578
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Apraxia, Oculomotor apraxia, Ataxia, Parkinsonism, Myoclonus ORPHA:1020
Combined Oxidative Phosphorylation Deficiency 57
Apnea, Neonatal death, Myoclonus OMIM:620167
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hypertonia, Myoclonus OMIM:618240
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations, Upper motor neur... ORPHA:52430
Primary Pulmonary Hypoplasia
Tachypnea, Apnea ORPHA:2257
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Generalized non-motor (absence) seizure, Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:615398
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Generalized non-motor (absence) seizure, Epileptic spasm, Generalized myoclonic seizure, Focal em... ORPHA:79351
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure ORPHA:453510
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Tachypnea OMIM:613320
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Infantile spasms... ORPHA:457351
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, Focal-onset seizure, Myoclonic status epilepticus, Seizure, Infantile sp... OMIM:619777
Intellectual Developmental Disorder, X-Linked 98
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Infantile spasms, Bilater... OMIM:300912
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic gait, Progressive cerebellar ataxia, Clonus, Spastic paraplegia, Speech apraxia, Poor coo... ORPHA:415
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Mercury Poisoning
Seizure, Tremor, Dystonia ORPHA:330021
Microcephaly, Amish Type
Limb hypertonia, Myoclonus OMIM:607196
Severe X-Linked Intellectual Disability, Gustavson Type
Hypertonia, Apneic episodes in infancy, Spasticity, Myoclonus ORPHA:3078
Hyperkalemic Periodic Paralysis
Hypertonia, Periodic hyperkalemic paralysis, Fasciculations, Cerebral palsy, Paresthesia ORPHA:682
Neurodevelopmental Disorder With Spasticity And Poor Growth
Babinski sign, Oculomotor apraxia, Limb hypertonia, Spasticity, Intention tremor, Clonus, Ataxia,... OMIM:618076
Myopathy, Myofibrillar, 2
Fasciculations OMIM:608810
Beta-Ketothiolase Deficiency
Spasticity, Tachypnea, Ataxia, Extrapyramidal dyskinesia ORPHA:134
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:619435
Pediatric-Onset Graves Disease
Hyperkinetic movements, Tremor ORPHA:525731
Staphylococcal Necrotizing Pneumonia
Tachypnea, Respiratory distress ORPHA:36238
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Holocarboxylase Synthetase Deficiency
Tachypnea, Hypertonia OMIM:253270
Pontocerebellar Hypoplasia, Type 2E
Hypertonia, Spasticity, Opisthotonus, Myoclonus, Spastic tetraplegia OMIM:615851
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... ORPHA:435638
Surfactant Metabolism Dysfunction, Pulmonary, 3
Tachypnea, Apnea, Neonatal death, Respiratory distress OMIM:610921
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Chorea, Gait ataxia, Dystonia, Ataxia, Myoclonus, Spastic tetraplegia OMIM:618321
Neuraminidase Deficiency
Slurred speech, Dysmetria, Myoclonus OMIM:256550
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Hypoparathyroidism, Anemia, ... ORPHA:699
Biotinidase Deficiency
Tachypnea, Apnea, Ataxia OMIM:253260
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Spasticity, Apnea, Myoclonus OMIM:612949
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure OMIM:617193
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:615802
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Seiz... ORPHA:395
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired distal proprioception, Positive Romberg sign, Gait ataxia, Myoclonus, Impaired vibratory... ORPHA:70595
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Hyperkinetic movements, Respiratory distress, Chorea... OMIM:615273
Juvenile Sialidosis Type 2
Lower limb spasticity, Spasticity, Ataxia, Myoclonus, Dysmetria ORPHA:93399
Warburg Micro Syndrome 3
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:614222
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Tachypnea, Episodic tachypnea, Respiratory distress ORPHA:26793
Autosomal Dominant Hypocalcemia
Paresthesia, Writer's cramp, Fatigable weakness, Cortical myoclonus ORPHA:428
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Babinski sign, Impaired distal proprioception, Positive Romberg sign, Impaired distal vibration s... OMIM:607459
Ethylene Glycol Poisoning
Ataxia, Myoclonus, Tachypnea, Episodic respiratory distress, Slurred speech ORPHA:31826
Developmental And Epileptic Encephalopathy 95
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Status epilepticus, Multifocal seiz... OMIM:618143
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Hyperkinetic movements OMIM:620469
Biotinidase Deficiency
Generalized myoclonic seizure, Seizure, Focal motor seizure, Infantile spasms, Bilateral tonic-cl... ORPHA:79241
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Spastic paraplegia, Ataxia, Splenomegaly, Neutropenia, Jaundice, P... ORPHA:167
Avian Influenza
Tachypnea, Respiratory distress ORPHA:454836
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Hypsarrhythmia, Appendicular spasticity, Myoclonus OMIM:617669
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Seizure, Dystonia, Ataxia, Abno... OMIM:612199
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Tachypnea OMIM:201475
Vici Syndrome
Abnormal posturing, Dysphagia, Hypotonia OMIM:242840
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Focal-onset seizure, Generalized-onset seizure, Tonic seizure, Bilateral tonic-c... OMIM:620024
Joubert Syndrome 1
Oculomotor apraxia, Hemifacial spasm, Ataxia, Central apnea, Episodic tachypnea OMIM:213300
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Molybdenum Cofactor Deficiency, Complementation Group B
Seizure, Neonatal death, Bilateral tonic-clonic seizure, Myoclonic spasms OMIM:252160
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor ORPHA:99819
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Generalized non-motor (absence) seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:620224
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Fasciculations, Tetraplegia, Progressive spasticity, Cataplexy, Spasticity, Dystonia, Ataxia ORPHA:496641
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypsarrhythmia, Spasticity, Vocal cord paralysis, Myoclonus ORPHA:500144
Cog8-Cdg
Ataxia, Myoclonus ORPHA:95428
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Tongue fasciculations, Neonatal death, Myoclonus OMIM:614922
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Myoclonus OMIM:560000
Hyperphosphatasia-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:247262
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Aicardi-Goutières Syndrome
Lipoatrophy, Hypertonia, Difficulty walking, Panniculitis, Chronic lymphatic leukemia, Abnormalit... ORPHA:51
Rheumatic Fever
Fasciculations, Chorea, Hemiballismus ORPHA:3099
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dystonia, Ataxia, Myoclonus OMIM:619167
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Agitation, Hand tremor ORPHA:424
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure... OMIM:614231
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:615474
Intellectual Developmental Disorder, Autosomal Dominant 54
Hyperkinetic movements, Athetoid cerebral palsy, Lower limb spasticity, Vocal cord paralysis, Apn... OMIM:617799
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea ORPHA:542323
Acute Interstitial Pneumonia
Tachypnea ORPHA:79126
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Babinski sign, Hypertonia, Spasticity, Tremor, Failure to thrive, Hypotonia OMIM:616539
Intellectual Developmental Disorder, Autosomal Dominant 53
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:617798
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:3044
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Episodic tachypnea, Respiratory distress ORPHA:348
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypertonia, Respiratory distress, Spasticity, Apnea, Ataxia, Myoclonus, Hypopnea OMIM:618426
Glass Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... OMIM:612313
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Tachypnea ORPHA:217563
Congenitally Uncorrected Transposition Of The Great Arteries
Tachypnea ORPHA:860
Hermansky-Pudlak Syndrome 10
Focal myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617050
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Sting-Associated Vasculopathy, Infantile-Onset
Tachypnea OMIM:615934
Fatty Acid Hydroxylase-Associated Neurodegeneration
Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:329308
Sialuria
Hyperkinetic movements ORPHA:3166
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Multilobulated spleen, Inguinal hernia, Hypoplastic spleen, Cryp... OMIM:601186
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure ORPHA:423479
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertonia, Hyperkinetic movements, Respiratory distress, Apnea, Myoclonus, Choreoathetosis ORPHA:17
Dystonia-Aphonia Syndrome
Generalized dystonia, Oromandibular dystonia, Myoclonus ORPHA:412217
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea, Oculomotor apraxia ORPHA:397715
Joubert Syndrome 2
Oculomotor apraxia, Ataxia, Central apnea, Episodic tachypnea OMIM:608091
Postpoliomyelitis Syndrome
Fasciculations ORPHA:2942
Scorpion Envenomation
Hyperkinetic movements, Tremor, Hemifacial spasm, Ataxia, Myoclonus, Tachypnea ORPHA:466677
Wilson Disease
Portal fibrosis, Parkinsonism with favorable response to dopaminergic medication, Limb dystonia, ... OMIM:277900
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Neonatal hypotonia, Broad-based gait, Hyperactivity, Poor gross motor coordination, Gait ataxia, ... OMIM:614756
Congenital Sialidosis Type 2
Spasticity, Ataxia, Dysmetria, Myoclonus ORPHA:93400
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus ORPHA:168593
Neuromuscular Oculoauditory Syndrome
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618733
Double Outlet Right Ventricle
Tachypnea ORPHA:3426
Brachytelephalangic Chondrodysplasia Punctata
Tachypnea, Central apnea ORPHA:79345
3-Methylglutaconic Aciduria, Type Viii
Hypertonia, Seizure, Tremor, Clonus, Failure to thrive, Dystonia OMIM:617248
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Orofaciodigital Syndrome Type 6
Apnea, Ataxia, Tremor, Episodic tachypnea ORPHA:2754
Weaver Syndrome
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:277590
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Oculogyric crisis, Lingual dystonia, Blepharospasm, Uppe... ORPHA:306674
Oculopharyngodistal Myopathy 1
Difficulty walking, Ataxia, Tremor, Weight loss OMIM:164310
Coronary Arterial Fistula
Tachypnea ORPHA:2041
Tsh-Secreting Pituitary Adenoma
Male hypogonadism, Erectile dysfunction, Decreased fertility in males, Infertility, Tremor, Impot... ORPHA:91347
Mosaic Variegated Aneuploidy Syndrome 1
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:257300
Bacterial Toxic-Shock Syndrome
Tachypnea, Respiratory distress ORPHA:36234
Immunodeficiency 23
Ataxia, Somatic sensory dysfunction, Cortical myoclonus, Myoclonus OMIM:615816
Pyruvate Carboxylase Deficiency
Abnormal pyramidal sign, Tachypnea, Tremor, Ataxia ORPHA:3008
Developmental And Epileptic Encephalopathy 2
Hypsarrhythmia, EEG with generalized slow activity, Myoclonus OMIM:300672
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Babinski sign, Truncal ataxia, Spasticity, Lower limb hypertonia, Ataxia, Myoclonus, Postural tremor OMIM:301072
Galloway-Mowat Syndrome 10
Myoclonus OMIM:619609
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Cocaine Intoxication
Tachypnea, Tremor, Involuntary movements, Respiratory distress ORPHA:90068
Surfactant Metabolism Dysfunction, Pulmonary, 2
Tachypnea, Respiratory distress OMIM:610913
Melas
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:550
African Trypanosomiasis
Somatic sensory dysfunction, Impaired proprioception, Akinesia, Difficulty walking, Paresthesia, ... ORPHA:3385
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Generalized tonic seizure... ORPHA:369837
9P13 Microdeletion Syndrome
Hand tremor, Myoclonus ORPHA:324313
Thyrotoxic Periodic Paralysis
Respiratory paralysis, Tetraplegia, Tremor, Periodic hypokalemic paresis, Obesity, Weight loss, P... ORPHA:79102
Kinsship Syndrome
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Myo... OMIM:619297
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Webb-Dattani Syndrome
Bilateral tonic-clonic seizure OMIM:615926
Joubert Syndrome 5
Oculomotor apraxia, Ataxia, Central apnea, Episodic tachypnea OMIM:610188
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Myoclonus, Tetraplegia OMIM:618278
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Seizure, Bilateral tonic-clonic seizure OMIM:301040
Neuroblastoma, Susceptibility To, 1
Ataxia, Myoclonus OMIM:256700
Combined Oxidative Phosphorylation Deficiency 14
EEG abnormality, Myoclonus OMIM:614946
Mitochondrial Dna-Associated Leigh Syndrome
Generalized myoclonic seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:255210
Complete Atrioventricular Septal Defect
Tachypnea, Intercostal retractions ORPHA:1329
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea OMIM:615751
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Atonic seizure, Bilateral tonic-clonic seizure, Generalized-onset seizure OMIM:620066
Lujo Hemorrhagic Fever
Seizure, Bilateral tonic-clonic seizure ORPHA:319213
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... ORPHA:466943
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Seizure, Infantile... OMIM:620455
Hyperparathyroidism, Neonatal Severe
Tachypnea OMIM:239200
Cholera
Tachypnea ORPHA:173
Pontocerebellar Hypoplasia Type 7
Hypertonia, Fatigable weakness of skeletal muscles, Fasciculations, Spasticity, Involuntary movem... ORPHA:284339
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Spastic tetraplegia, Neonatal death, Clonus, Myoclonus OMIM:619055
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure ORPHA:79124
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Distal sensory impairment, Torticollis, Spasticity, Ataxia, Myoclonus, Spastic tetraplegia, Spast... OMIM:609136
Fabry Disease
Fasciculations, Paresthesia OMIM:301500
Rh Deficiency Syndrome
Tachypnea ORPHA:71275
D-Bifunctional Protein Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:261515
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:619512
Combined Oxidative Phosphorylation Deficiency 3
Seizure, Bilateral tonic-clonic seizure OMIM:610505
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Simple febrile seizure, Bilateral tonic-clonic seizure ORPHA:466950
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Spasticity, EEG abnormality, Myoclonus OMIM:246450
Orofaciodigital Syndrome Type 3
Spasticity, Oculomotor apraxia, Myoclonus ORPHA:2752
Congenital Tricuspid Valve Dysplasia
Tachypnea ORPHA:555874
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:447997
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:620371
Smooth Muscle Dysfunction Syndrome
Tachypnea OMIM:613834
Neuroblastoma
Ataxia, Myoclonus, Respiratory distress ORPHA:635
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Myoclonus ORPHA:251004
Hallermann-Streiff Syndrome
Bilateral tonic-clonic seizure OMIM:234100
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:488627
Glucocorticoid Deficiency 2
Spastic tetraparesis, Myoclonus OMIM:607398
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal pyramidal sign, Hypertonia, Hyperkinetic movements, Spasticity ORPHA:468631
Nmda Receptor Encephalitis
Oculogyric crisis, Chorea, Involuntary movements, Rigidity, Dystonia, Opisthotonus, Myoclonus, Ch... ORPHA:217253
Malignant Hyperthermia Of Anesthesia
Tachypnea ORPHA:423
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Typical absence seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, ... ORPHA:268261
Histiocytoid Cardiomyopathy
Hemiplegia, Tachypnea ORPHA:137675
Opsoclonus-Myoclonus Syndrome
Limb myoclonus, Rigidity, Ataxia, Myoclonus ORPHA:1183
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:280000
Arima Syndrome
Tachypnea, Ataxia OMIM:243910
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Focal-onset seizure, Infantile spasms, Seizure, Bilateral tonic-clonic seizure, Multifocal seizures OMIM:301044
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Primary amenorrhea, Male infertility, Azoospermia ORPHA:90797
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure OMIM:278800
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Atrial Septal Defect, Ostium Primum Type
Tachypnea ORPHA:99106
Orofaciodigital Syndrome Iii
Myoclonus OMIM:258850
Isolated Permanent Neonatal Diabetes Mellitus
Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:99885
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Truncal ataxia, Spasticity, Tremor, Ataxia, Tachypnea, Dysmetria OMIM:220111
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age ran... ORPHA:459070
Mitochondrial Complex I Deficiency, Nuclear Type 1
Bilateral tonic-clonic seizure OMIM:252010
Aromatase Deficiency
Primary amenorrhea, Female infertility, Male infertility, Hypergonadotropic hypogonadism ORPHA:91
Listeriosis
Tremor, Hemiparesis, Ataxia, Myoclonus, Somatic sensory dysfunction ORPHA:533
Ogden Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:300855
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... ORPHA:513456
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Abnormality of visual evoked potentials, Ataxia, Myoclonus, Paralysis, Tetraparesis OMIM:203700
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Double Outlet Left Ventricle
Tachypnea ORPHA:3427
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea OMIM:613658
Exercise-Induced Malignant Hyperthermia
Tachypnea, Ataxia ORPHA:466650
Pulmonary Alveolar Microlithiasis
Tachypnea ORPHA:60025
Aortic Arch Interruption
Tachypnea, Respiratory distress ORPHA:2299
Holoprosencephaly 14
Bilateral tonic-clonic seizure OMIM:619895
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure ORPHA:457359
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Generalized non-motor (absence) seizure, Myoclonic seizure, Febrile seizure (within the age range... OMIM:620330
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:612474
Gaucher Disease
Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:355
Hartsfield Syndrome
Bilateral tonic-clonic seizure OMIM:615465
Doors Syndrome
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:79500
Neutral Lipid Storage Disease With Myopathy
Fasciculations OMIM:610717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Spasticity, EEG abnormality, Enlarged flash visual evoked potentials, Myoclonus OMIM:253280
Truncus Arteriosus
Tachypnea ORPHA:3384
Sotos Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... ORPHA:821
Neutral Lipid Storage Myopathy
Fasciculations ORPHA:98908
Goodpasture Syndrome
Tachypnea OMIM:233450
Kabuki Syndrome 1
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset OMIM:147920
Crimean-Congo Hemorrhagic Fever
Fasciculations ORPHA:99827

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Glra1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Glra1.

No publications found that use IMPC mice or data for Glra1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Glra1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Glra1em1(IMPC)Mbp Exon Deletion Mice
Glra1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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