Gene: Kcna2 MGI:96659

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Gene Summary

Name:
potassium voltage-gated channel, shaker-related subfamily, member 2
Synonyms:
Kv1.2,  Kca1-2,  Mk-2,  Akr6a4

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased red blood cell distribution width Kcna2em1(IMPC)H HET Early adult 2.22×10-05

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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 Kcna2 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 Kcna2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, EEG with multifocal slow activity, Hypsarrhythmia, Difficulty walking, Abnormality of coo... ORPHA:442835

The table below shows human diseases predicted to be associated to Kcna2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Epilepsy, Benign Occipital
Seizure, EEG abnormality OMIM:132090
Epilepsy, Reading
Seizure, EEG abnormality OMIM:132300
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Seizures, Benign Familial Infantile, 1
Apnea, Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with... OMIM:601764
Seizures, Benign Familial Infantile, 3
Apnea, Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with... OMIM:607745
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Apnea, Focal-onset seizure, Bilateral toni... ORPHA:306
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Benign Familial Neonatal Epilepsy
Apnea, Generalized tonic seizure, Focal-onset seizure, Status epilepticus, Focal tonic seizure, S... ORPHA:1949
Epilepsy, Familial Adult Myoclonic, 1
EEG with photoparoxysmal response, Bilateral tonic-clonic seizure, Giant somatosensory evoked pot... OMIM:601068
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia, EEG abnormality OMIM:617831
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Epilepsy, Familial Temporal Lobe, 8
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... OMIM:616461
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-cloni... OMIM:615400
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Enhancement of the C-reflex, Jerk-locked prem... OMIM:615127
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609253
Febrile Seizures, Familial, 4
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:604352
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Respiratory insufficiency, Seizure, EEG abnormality, Myoclonus, F... OMIM:300673
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Seizure, Apneic episodes in infancy, Failure to thrive, Hypsarrhythmia ORPHA:500545
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Epilepsy, Familial Adult Myoclonic, 3
EEG with photoparoxysmal response, Focal-onset seizure, Bilateral tonic-clonic seizure, Giant som... OMIM:613608
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Ravine Syndrome
Apnea, Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight ORPHA:99852
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Spinocerebellar Ataxia Type 38
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Morn... OMIM:254770
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Action tremor, Ataxia, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), EEG with generalized spikes, EEG w... OMIM:615369
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, EEG abnormality, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Seizures, Benign Familial Neonatal, Autosomal Recessive
Normal interictal EEG, Bilateral tonic-clonic seizure OMIM:269720
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Abnormal posturing, Chorea, Gait disturbance, Poor fine ... ORPHA:157941
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, EEG with polyspike wave complexes, Myoclonus, Intention tremor, Morning myoc... ORPHA:308
Myoclonic Epilepsy, Familial Infantile
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:605021
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Hypsarrhythmia, Bilateral tonic-clonic seizure, Seizure, Generalized myoclo... OMIM:616341
Mitochondrial Complex I Deficiency, Nuclear Type 2
Seizure, Apnea, Respiratory insufficiency OMIM:618222
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... ORPHA:86841
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Epilepsy, Early-Onset, Vitamin B6-Dependent
Seizure, Apnea, Myoclonus, Respiratory insufficiency OMIM:617290
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Mitochondrial Complex I Deficiency, Nuclear Type 13
Seizure, Apnea OMIM:618235
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... OMIM:121200
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... OMIM:600669
Autosomal Dominant Epilepsy With Auditory Features
EEG with focal epileptiform discharges, Focal-onset seizure, Bilateral tonic-clonic seizure, Inte... ORPHA:101046
Continuous Spikes And Waves During Sleep
EEG with generalized polyspikes, Atonic seizure, Focal-onset seizure, Myoclonic absence seizure, ... ORPHA:725
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Status epilepticus, Focal impaired... OMIM:615697
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613060
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Abnormal nerve conduction velocity, Gait disturbance, Ataxia, Impaired pain sensation ORPHA:101075
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset, EEG with focal sha... ORPHA:163721
Cortical Malformations, Occipital
EEG abnormality, Bilateral tonic-clonic seizure OMIM:614115
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure,... OMIM:616056
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure OMIM:609800
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Pyridoxine-Dependent Epilepsy
Hypsarrhythmia, Atonic seizure, Focal-onset seizure, EEG with burst suppression, EEG with general... ORPHA:3006
Myasthenic Syndrome, Congenital, 6, Presynaptic
Sudden episodic apnea, Respiratory distress, Generalized hypotonia due to defect at the neuromusc... OMIM:254210
Spinocerebellar Ataxia, Autosomal Recessive 17
Unsteady gait, Tremor, Truncal ataxia, Dysmetria OMIM:616127
Ceroid Lipofuscinosis, Neuronal, 6
Seizure, Abnormal nervous system electrophysiology OMIM:601780
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Abnormal sensory nerve conduction velocity, Impaired... ORPHA:276435
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, EEG with burst suppression, Status epilepticus, Seizure, Myoclonic se... ORPHA:168486
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, EEG with focal epileptiform discharges, Hypsarrhythmia, Focal-onset s... ORPHA:98820
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Decreased nerve conduction velocity, Gait disturbance, Ataxia, Impaired pain sensation ORPHA:101078
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anisocytosis, Anemia, Splenomegaly, Decreased mean corpuscula... OMIM:616860
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Spasticity, Ankle clonus, Dysmetria, Babin... OMIM:270500
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... OMIM:128230
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Morning myo... OMIM:607682
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Fatiguable weakness of proximal limb muscles, Somatic sensory dysfunct... ORPHA:90117
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with spike-wave complexes, Bilateral tonic-clonic seizure, Interictal epileptiform activity, ... OMIM:254800
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Perioral Myoclonia With Absences
EEG with spike-wave complexes, Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-mo... ORPHA:139426
Developmental And Epileptic Encephalopathy 90
Hypsarrhythmia, Focal-onset seizure, EEG with burst suppression, Bilateral tonic-clonic seizure, ... OMIM:301058
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Bilateral tonic-clonic seizure, Status epilepticus, Neonatal respiratory di... OMIM:266100
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Seizure, Apnea OMIM:615228
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, He... OMIM:300908
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Dystonia, Ataxia, Spasticity OMIM:615889
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, EEG abnormality, Myoclonus, Sp... OMIM:617829
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dysmetria, Bab... OMIM:610245
Epilepsy, Progressive Myoclonic, 11
Ataxia, Giant somatosensory evoked potentials, Myoclonus, Intention tremor, Rigidity OMIM:618876
X-Linked Charcot-Marie-Tooth Disease Type 6
Difficulty walking, Impaired vibration sensation in the lower limbs, Distal sensory impairment, D... ORPHA:352675
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity OMIM:213200
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Roussy-Lévy Syndrome
Postural tremor, Decreased motor nerve conduction velocity, Gait ataxia, Clumsiness, Impaired vib... ORPHA:3115
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Ataxia, EEG abnormality, Choreoathetosis OMIM:612126
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:607681
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Respiratory distress, Generalized hypotonia due to defect at the neuromusc... OMIM:605809
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Bilateral tonic-clonic seiz... OMIM:607208
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Gait disturbance, Toe walking, Weight loss, Opisthotonus, ... ORPHA:216866
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
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Pontocerebellar Hypoplasia Type 4
Seizure, Respiratory failure requiring assisted ventilation, Central apnea, Myoclonus ORPHA:166063
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus, Dystonia OMIM:611092
Leukodystrophy, Hypomyelinating, 4
Seizure, Apnea OMIM:612233
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Myo... ORPHA:98763
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Lower limb spasticity, Dysmetria,... OMIM:616948
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, E... ORPHA:2382
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Distal sensory impairment, Steppage gait OMIM:618387
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Decreased motor nerve conduction velocity, Tremor, Spastic paraparesis, Diffic... ORPHA:101077
Bronchopulmonary Dysplasia
Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system physiology, Dyspnea, Cou... ORPHA:70589
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic... OMIM:609446
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, EEG with spike-wave complexes, Truncal ataxia, Gait ataxia, Chorea, EEG with polyspike wa... OMIM:618587
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Status epilepticus, Seizure, EEG abnormality, Myoclonus ORPHA:71277
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... ORPHA:216873
Ceroid Lipofuscinosis, Neuronal, 10
Status epilepticus, Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Epilepsy, Familial Adult Myoclonic, 2
Tremor, EEG with photoparoxysmal response, Blepharospasm, Ataxia, Giant somatosensory evoked pote... OMIM:607876
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia, Decreased nerve conduction velocity ORPHA:1368
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Failure to thrive, Ataxia OMIM:618951
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... OMIM:615924
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Dystonia, Bradykinesia, Ataxia, EEG abnormality, Rigidity OMIM:617836
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Abnormal nerve conduction velocity, Gait disturbance, Paraparesis, Ataxia, Impaired pain ... ORPHA:99014
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Unilateral Hemispheric Polymicrogyria
EEG with focal epileptiform discharges, Focal-onset seizure, Bilateral tonic-clonic seizure, Foca... ORPHA:101071
Glutathionuria
Tremor OMIM:231950
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Bilateral tonic-clonic seizure, EEG with polyspike wave complexes, Myo... OMIM:619000
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... ORPHA:1941
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, H... OMIM:609260
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Gait ataxia, Apraxia, EEG abnormality, Dysmetria, Spasticity OMIM:617810
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Abnormality of extrapyramidal motor function, Head tremor, Difficulty walking, Abnormal... ORPHA:280219
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Prolonged somatosensory evoked potentials, Writer's cramp, Myoclonus OMIM:608105
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Intention tremor OMIM:302500
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, EEG with spike-wave complexes, Truncal ataxia, Clu... ORPHA:228360
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Interictal EEG abnormality, Clumsiness, Chorea, Poor fine motor coordination, A... ORPHA:79263
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Dystonia, Gait ataxia, Abnormal posturing, Chorea, Gait disturbance, Resting tremor, ... ORPHA:225147
Spinocerebellar Ataxia Type 28
Kinetic tremor, Gait ataxia, Dystonia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... ORPHA:101109
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Obesity OMIM:614947
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Ataxia, Parkinsonism, Cachexia, Dysmetria, Babinski sign OMIM:618093
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Central apnea, Respiratory insufficiency OMIM:611722
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Progressive gait ataxia, Limb ataxia, ... ORPHA:284324
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... OMIM:617013
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... ORPHA:306692
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Pa... OMIM:604326
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... OMIM:600363
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, EEG abnormality, Parkinsonism, Babinski sign, Choreoathetosis, Shuf... OMIM:300055
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Myasthenic Syndrome, Congenital, 16
Apnea, Fatigable weakness OMIM:614198
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Gait ataxia, Dystonia, Apraxia, Gait disturbance,... ORPHA:3095
Kcnq2-Related Epileptic Encephalopathy
Apnea, Generalized tonic seizure, Hypsarrhythmia, EEG with burst suppression, Seizure, Epileptic ... ORPHA:439218
Mitochondrial Complex I Deficiency, Nuclear Type 4
Seizure, Apnea, Myoclonus OMIM:618225
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Myoclonus, Dysmetria OMIM:619028
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, G... OMIM:603472
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Torticol... ORPHA:397946
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Myopathy With Extrapyramidal Signs
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxia OMIM:615673
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Dystonia, Rigidity, Hypertonia, Bradykinesia, Ataxia, Small for gestational age, Parkinso... OMIM:261640
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Abnormal posturing, Dystonia OMIM:304700
Hyperglycinemia, Lactic Acidosis, And Seizures
Seizure, Apnea, Myoclonus, Respiratory insufficiency OMIM:614462
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis OMIM:141700
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Upper limb postural tremor... OMIM:180800
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Gait ataxia, Truncal ataxia, Head tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia,... ORPHA:352641
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
2Q24 Microdeletion Syndrome
Seizure, Small for gestational age, Central apnea, Failure to thrive ORPHA:1617
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Myoclonus, Ataxia OMIM:614018
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Tremor, Frequent falls, Incoordination, Difficulty wal... OMIM:302800
Pontocerebellar Hypoplasia, Type 6
Seizure, Apnea, Failure to thrive OMIM:611523
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Park... OMIM:619279
Dystonia 1, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Abnormal posturing, Hypertonia, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic parapares... ORPHA:206443
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Landau-Kleffner Syndrome
Generalized clonic seizure, EEG with frontal focal spikes, EEG with temporal focal spikes, Interi... ORPHA:98818
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Focal tonic seizure, Seizure, Bilateral tonic-cloni... ORPHA:314655
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Unsteady gait, Parkinsonism,... ORPHA:210571
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Distal sensory impairment, Frequent falls, Spasticity OMIM:616719
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait OMIM:182920
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Mitochondrial Complex I Deficiency, Nuclear Type 5
Seizure, Apnea, Failure to thrive, Respiratory insufficiency OMIM:618226
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Short stature OMIM:312910
Mitochondrial Complex I Deficiency, Nuclear Type 14
Seizure, Apnea OMIM:618236
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Postnatal growth retardation, Short stature, Ataxia OMIM:616113
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:618873
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida... OMIM:213600
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Obesity, Lower limb spasticity, Parkinsonism, Hyperactivity, Focal EEG di... ORPHA:3077
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Interictal EEG abnormality, Episodic tachypnea, Bilateral tonic-clonic seizure, Seizure, A... ORPHA:79264
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Babi... OMIM:609270
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ability to walk, Rigidity, Dystonia OMIM:615010
Huntington Disease-Like 2
Dystonia, Chorea, Weight loss, Action tremor, Bradykinesia, Rigidity OMIM:606438
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, EEG with temporal epileptiform discharges, Interictal EEG abnormal... ORPHA:363558
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Apnea, Seizure, Myoclonic spasms, Generalized myoclonic seizure OMIM:614498
Dystonia 11, Myoclonic
Writer's cramp, Tremor, Myoclonus, Torticollis OMIM:159900
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure, Interictal epileptiform activity, Seizure, G... OMIM:619157
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Gait disturbance, Slurred speech, A... ORPHA:93952
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Ataxia, Decreased nerve conduction velocity, Fasciculations, Rigidity, Spasticity OMIM:183050
Pyropoikilocytosis, Hereditary
Microspherocytosis, Hemolytic anemia, Elliptocytosis, Pyropoikilocytosis OMIM:266140
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Action tremor, Bradykinesia, Parkinsonism, Babinski sign OMIM:300423
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized-ons... ORPHA:79137
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Intellectual Developmental Disorder, X-Linked 104
Tremor, Spasticity, Ataxia, Hyperactivity OMIM:300983
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:86909
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysm... OMIM:614831
Developmental And Epileptic Encephalopathy 42
Tremor, Hypertonia, Ataxia, EEG abnormality, Athetosis OMIM:617106
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Stridor ORPHA:137935
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Fasciculations, Tremor ORPHA:65684
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:607688
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis, Spasticity OMIM:612716
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Difficulty walking, Failure to thrive, Babinski sign, Broad-based gait ORPHA:477673
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, EEG with multifocal slow activity, Hypsarrhythmia, Difficulty walking, Abnormality of coo... ORPHA:442835
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), EEG with focal epileptiform discha... ORPHA:263516
3-Methylglutaconic Aciduria, Type Viii
Seizure, Apnea, Respiratory failure OMIM:617248
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizur... OMIM:618856
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea OMIM:616277
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Gait disturbance, Postnatal growth retardation, Ataxia, My... ORPHA:391417
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive spasticity, Tremor, Truncal ataxia, Clumsiness, Spastic ataxia, Difficulty walking, H... ORPHA:137898
Leigh Syndrome With Leukodystrophy
Seizure, Apnea, Failure to thrive ORPHA:255241
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Apneic episodes precipitated by illness, fatigue, stress, Small for gestational age OMIM:312170
Gabriele-De Vries Syndrome
Tremor, Waddling gait, Dystonia OMIM:617557
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Tremor, Gait ataxia, Truncal ataxia, Dystonia, Rigidity, Hypertonia, Hemiballi... OMIM:618877
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Bradykinesia, Craniofacial dystonia, Torticollis, Parkinsonism, Limb... ORPHA:71517
Parkinson Disease 14, Autosomal Recessive
Tremor, Dystonia, Clumsiness, Apraxia, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:612953
Rett Syndrome
Apnea, Seizure, Intermittent hyperventilation, EEG abnormality, Cachexia OMIM:312750
Gaucher Disease, Type Ii
Seizure, Apnea, Recurrent aspiration pneumonia, Failure to thrive OMIM:230900
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:33445
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Waddling gait, Myocl... ORPHA:2590
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency OMIM:617239
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, EEG abnormality, Stereotypy, Hyperactivity, Spasticity OMIM:618718
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes, Ato... ORPHA:36387
Dopa-Responsive Dystonia
Inability to walk, Tremor, Dystonia, Lethargy, Abnormality of extrapyramidal motor function, Diff... ORPHA:255
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Dystonia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus ORPHA:139485
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Abnormal nerve conduction velocity, Chorea, Gait d... ORPHA:98755
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Oculomotor apraxia, EEG abnormality, Dysmetria, Spasticity ORPHA:529665
Mitochondrial Complex I Deficiency, Nuclear Type 10
Seizure, Apnea, Respiratory failure, Central hypoventilation OMIM:618233
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Dystonia, Apraxia, Spastic paraparesis, Incoordination, Ataxia, Brady... OMIM:615157
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Dystonia, Akinesia, Parkinsonism with favorable response to dopaminer... OMIM:606693
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Rigidity, Hypsarrhythmia, Abnormality of extrapyramidal motor function, Chorea, Hyperto... ORPHA:13
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Joubert Syndrome 30
Seizure, Apnea, Tachypnea OMIM:617622
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Seizure, Apnea, EEG abnormality OMIM:261680
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, EEG wit... ORPHA:289266
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Seizure, Apnea OMIM:300864
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Spinocerebellar Ataxia Type 10
Dysdiadochokinesis, Kinetic tremor, Gait ataxia, Progressive cerebellar ataxia, Unsteady gait, Lo... ORPHA:98761
Peroxisome Biogenesis Disorder 11A (Zellweger)
Seizure, Apnea, Failure to thrive OMIM:614883
Developmental And Epileptic Encephalopathy 6B
EEG with spike-wave complexes (>3.5 Hz), Focal-onset seizure, Myoclonic absence seizure, Bilatera... OMIM:619317
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Unsteady gait,... OMIM:617435
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Blepharospasm,... ORPHA:99750
Leukodystrophy, Hypomyelinating, 6
Tremor, Dystonia, Rigidity, Ataxia, Choreoathetosis, Spasticity OMIM:612438
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Spinocerebellar Ataxia Type 36
Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Tongue fasciculations, Dysm... ORPHA:276198
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Hyperekplexia 1
Apnea, Seizure, Myoclonus, Nocturnal seizures, Aspiration OMIM:149400
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of coordination, Gait disturbance, Hypertonia, ... ORPHA:352649
Joubert Syndrome 9
Seizure, Apnea, Episodic tachypnea OMIM:612285
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Tongue fasciculations, Myoclonus, Fasciculations, Frequent falls OMIM:159950
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Dysmetria OMIM:610185
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus ORPHA:324588
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Tremor, Dystonia, Gait disturbance, Hypertonia, Abnormal pyramidal sign, Atax... ORPHA:96
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... ORPHA:98773
Spinocerebellar Ataxia 27
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Head tremor, Limb ata... OMIM:609307
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Neonatal respiratory distress, Neonatal death, Respiratory failure, Failure to th... OMIM:265120
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Action tremor, Bradykinesia, Weakness due to upper mo... ORPHA:97355
Peroxisome Biogenesis Disorder 5B
Tremor, Oculomotor apraxia, Ataxia, Unsteady gait, Dysmetria OMIM:614867
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Seizure, Central apnea ORPHA:320385
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Dystonia, Rigidity, Chorea, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, Laryngea... OMIM:606159
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Gait ataxia, Dystonia, Dysmetria, Failure to thrive, Choreoathetosis, ... OMIM:617988
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Myoclonus, Intention tremor OMIM:254900
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Decreased mean corpuscul... OMIM:618278
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dysmetria, Spasticity ORPHA:1170
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia... OMIM:300894
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:605909
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple febrile s... ORPHA:352582
Spinocerebellar Ataxia Type 18
Gait ataxia, Head tremor, Somatic sensory dysfunction, Titubation, Dysmetria ORPHA:98771
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Neonatal respiratory distress, N... OMIM:610921
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, EEG with persistent abnormal rhythmic activity, Chorea, Spastic ... ORPHA:282166
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Seizure, Central apnea OMIM:615031
Pelizaeus-Merzbacher Disease
Tremor, Dystonia, Progressive spastic quadriplegia, Abnormal pyramidal sign, Head titubation, Ata... OMIM:312080
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Gait ataxia, Truncal ataxia, Dystonia, Limb ataxia, Oculomotor apraxia, Ataxia, Distal se... OMIM:208920
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Decreased mean corpuscular volume, Pyropoikilocytosis OMIM:617948
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Oculomotor apraxi... OMIM:183090
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Abnormal auditory evoked potentials, Imp... ORPHA:99027
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Distal sensory impairment OMIM:616668
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Intention tremor, Babinski sign, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Myoclonic-Astatic Epilepsy
Tremor, Abnormal pyramidal sign, EEG with generalized slow activity, EEG with polyspike wave comp... ORPHA:1942
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Tremor, Attention deficit hyperactivity disorder, Apraxia, Abnormal ... ORPHA:52368
Hermansky-Pudlak Syndrome 10
Focal myoclonic seizure, Apnea, EEG abnormality, Bilateral tonic-clonic seizure OMIM:617050
Gerstmann-Straussler Disease
Tremor, Gait ataxia, Truncal ataxia, Apraxia, Limb ataxia, Bradykinesia, Weight loss, Parkinsonis... OMIM:137440
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism ORPHA:306669
Parkinsonism-Dystonia, Infantile, 2
Tremor, Gait ataxia, Dystonia, Incoordination, Oculogyric crisis, Parkinsonism, Shuffling gait OMIM:618049
Nemaline Myopathy 2
Slender build, Apnea, Respiratory insufficiency due to muscle weakness OMIM:256030
Myoclonus, Intractable, Neonatal
Seizure, Apnea, Myoclonus OMIM:617235
Xeroderma Pigmentosum, Complementation Group F
Decreased body weight, Tremor, Ataxia OMIM:278760
Pontocerebellar Hypoplasia Type 2
Apnea, Simple febrile seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, In... ORPHA:2524
Joubert Syndrome 23
Apnea, Tachypnea OMIM:616490
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Failure to thrive OMIM:619048
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Seizure, Apneic episodes in infancy OMIM:610006
Glutamine Deficiency, Congenital
Seizure, Apnea, Neonatal death, Neonatal respiratory distress OMIM:610015
Developmental And Epileptic Encephalopathy 4
Generalized tonic seizure, Hypsarrhythmia, EEG with burst suppression, Bilateral tonic-clonic sei... OMIM:612164
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Dystonia, Gait ataxia, Lethargy, Cogwheel rigidity, Chorea, Hypertonia, Abnorm... OMIM:607483
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Anisopoikilocytosis, Hemolytic anemia, Stomatocytosis OMIM:102730
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Poor fine motor coordination, Resting tremor, A... OMIM:300623
Autosomal Recessive Spastic Paraplegia Type 75
Spastic paraplegia, Impaired vibratory sensation, Abnormal pyramidal sign, Titubation, Dysmetria,... ORPHA:459056
Leukodystrophy, Hypomyelinating, 5
Inability to walk, Decreased motor nerve conduction velocity, Intention tremor, Loss of ability t... OMIM:610532
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Pontocerebellar Hypoplasia, Type 7
Seizure, Apnea, Myoclonus OMIM:614969
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Bronchospasm, Abnormal pattern of respiration, Stridor OMIM:608800
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Gait disturbance, Poor coordination, Ataxia, Abnormality of pain sensation, Recurrent han... ORPHA:544254
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Oculogyric crisis ORPHA:330050
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Auriculocondylar Syndrome 2
Apnea, Snoring OMIM:614669
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Seizure, Apnea, Failure to thrive OMIM:210200
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Lethargy, Dystonia, Rigidity, Hyperkinetic movements, Limb hypertonia, Choreoathetosis OMIM:233910
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Apnea, Failure to thrive, Bilateral tonic-clonic seizure OMIM:608809
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
D-2-Hydroxyglutaric Aciduria 1
Seizure, Apnea, Inspiratory stridor OMIM:600721
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Ataxia, Obesity, EEG abnormality, EEG with abnormally slow frequencies, Recurrent hand fl... ORPHA:98794
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Bradykinesia, Oculogyric crisis, Limb hypertonia, Small for gestational age, Ri... ORPHA:70594
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Intention tremor, Hypertonia, Ataxia, Myoclonus, Dysmetria, Distal sensory i... OMIM:616505
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoc... ORPHA:363400
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Neonatal respiratory distress, Asth... ORPHA:2257
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Seizure, Apnea ORPHA:137754
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Spastic paraparesis, Bradykinesia, Parkinsonism, Rigidity ORPHA:329284
Joubert Syndrome 33
Apnea OMIM:617767
Congenital Myasthenic Syndrome
Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, EEG with polyspike wav... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, EEG with polyspike wav... ORPHA:98914
Hypoadrenocorticism, Familial
Seizure, Apnea OMIM:240200
Progressive Supranuclear Palsy
Tremor, Dystonia, Blepharospasm, Bradykinesia, Unsteady gait, Falls, Abnormal synaptic transmissi... ORPHA:683
Narcolepsy 7
Narcolepsy OMIM:614250
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Fatal Familial Insomnia
Apnea, Myoclonus, Weight loss OMIM:600072
Unilateral Polymicrogyria
Apnea, Generalized tonic seizure, Focal-onset seizure, Epistaxis, Status epilepticus, Seizure, Gi... ORPHA:268943
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Complex febrile seizure, Focal motor seizure, Bilateral ... OMIM:619338
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Tremor, Gait ataxia, Dystonia, Head tremor, Chorea, Pr... OMIM:606002
Pyruvate Dehydrogenase Deficiency
Tremor, Dystonia, Lethargy, Gait disturbance, Abnormal pyramidal sign, Ataxia, Choreoathetosis, C... ORPHA:765
Multiple System Atrophy
Postural tremor, Gait ataxia, Axial dystonia, Abnormal pyramidal sign, Resting tremor, Bradykines... ORPHA:102
Fructose-1,6-Bisphosphatase Deficiency
Seizure, Apnea, Dyspnea, Hyperventilation OMIM:229700
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Gait disturbance, Babinski sign, Tetraplegia,... OMIM:616586
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Seizure, EEG abnormality, Foc... ORPHA:488613
Multiple System Atrophy, Cerebellar Type
Postural tremor, Gait ataxia, Axial dystonia, Limb ataxia, Abnormal pyramidal sign, Resting tremo... ORPHA:227510
48,Xxyy Syndrome
Seizure, Apnea, Asthma, Obesity ORPHA:10
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency OMIM:618198
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Hypophosphatasia, Infantile
Seizure, Apnea, Stillbirth, Failure to thrive OMIM:241500
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Difficulty walking, Ataxia, Lower limb spasticity, Titubation, Failure to thri... ORPHA:280210
Acrodermatitis Enteropathica, Zinc-Deficiency Type