Gene Summary

Name:
myelin-associated glycoprotein
Synonyms:
Gma,  siglec-4a

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
abnormal sleep behavior Magtm1.1(KOMP)Vlcg HOM Early adult 3.94×10-06
abnormal auditory brainstem response Magtm1.1(KOMP)Vlcg HOM   Early adult 6.67×10-07
decreased locomotor activity Magtm1.1(KOMP)Vlcg HOM   Early adult 6.96×10-05
decreased startle reflex Magtm1.1(KOMP)Vlcg HOM Early adult 5.35×10-06
decreased coping response Magtm1.1(KOMP)Vlcg HOM Early adult 2.00×10-05
increased grip strength Magtm1.1(KOMP)Vlcg HOM Early adult 6.31×10-05
decreased leukocyte cell number Magtm1.1(KOMP)Vlcg HOM   Early adult 7.62×10-05
convulsive seizures Magtm1.1(KOMP)Vlcg HOM Early adult 3.75×10-15

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain Ambiguous
hindlimb 0.0%
liver Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin Ambiguous
spinal cord Ambiguous
tail Ambiguous
tail somite group Ambiguous

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

6 Images

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Section

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Mag 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 Mag by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Recessive Spastic Paraplegia Type 75
Babinski sign, Spasticity, Titubation, Spastic paraplegia, Abnormal pyramidal sign, Impaired vibr... ORPHA:459056
Spastic Paraplegia 75, Autosomal Recessive
Spastic gait, Babinski sign, Spastic dysarthria, Spasticity, Impaired distal vibration sensation,... OMIM:616680

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Guillain-Barre Syndrome, Familial
Acute demyelinating polyneuropathy OMIM:139393
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... OMIM:606482
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance ORPHA:256
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Axonal degeneration/regeneration, Onion bulb formation, Peripheral ... OMIM:620378
Charcot-Marie-Tooth Disease, Type 4A
Axonal degeneration, Hypertrophic nerve changes, CNS hypomyelination, Basal lamina onion bulb for... OMIM:214400
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Enhancement of the C-reflex, EEG with irregular generalized spike ... OMIM:601068
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Gliosis, Decreased number of peripheral myelinated nerve fib... OMIM:604484
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Difficulty walking, Enhancement of the C-reflex, Tremor, Bilateral tonic-clo... OMIM:613608
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Clusters of axonal regeneration, Onion bu... OMIM:607734
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Irritability, Inability to walk, Hypsarrhythmia, Tonic seizure, Bilateral tonic-... OMIM:615006
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination ORPHA:85163
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Depres... OMIM:619491
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination ORPHA:88637
Intellectual Developmental Disorder, Autosomal Recessive 4
Delayed myelination OMIM:611107
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, EEG with polyspike wave complexes, Seizure, Tremor, Bilateral tonic-... OMIM:615127
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination, Axonal degeneration/regeneration, Onion bulb formation, Segme... OMIM:606483
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Hypsarrhythmia, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizur... OMIM:619964
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal neuropathy, Facial palsy, Decreased number of peripheral myelinated nerve fiber... OMIM:118210
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Depression, Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dys... ORPHA:401901
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607677
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Charcot-Marie-Tooth Disease, Type 4C
Axonal degeneration, Abnormal cranial nerve morphology, Facial palsy, Basal lamina onion bulb for... OMIM:601596
Epilepsy, Progressive Myoclonic 7
Tremor, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus, EEG with generalize... OMIM:616187
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Onion bulb formation, Peripheral demyelination OMIM:615185
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers OMIM:608673
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia ORPHA:217012
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Tremor, Bilatera... OMIM:617831
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Onion bulb fo... OMIM:118200
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Unsteady gai... OMIM:616053
Roussy-Levy Hereditary Areflexic Dystasia
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Segmental periphera... OMIM:180800
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Focal motor seizure, Bilateral tonic-clonic seizure, Prolong... OMIM:608105
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Amyotrophic Lateral Sclerosis 4, Juvenile
Axonal degeneration, Atrophy of the spinal cord, Diffuse axonal swelling, Degeneration of anterio... OMIM:602433
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Depression, Interictal epileptiform activity, Focal awar... ORPHA:101046
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Focal aware seizure, Bilateral tonic-clonic seizure, Visually-indu... OMIM:614417
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Ataxia, Frequent falls OMIM:615945
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Somatic sensory dysfunction, Gait ataxia ORPHA:423296
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Abnormal upper motor neuron morphology, Gliosis, Axonal loss, Peripheral demyel... OMIM:221770
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Cavitating leukodystrophy OMIM:619061
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, EEG with centrotemporal focal spike waves, Continuo... ORPHA:725
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Peripheral hypomyelination, Onion bulb formation OMIM:605253
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Onion bulb fo... OMIM:118220
Charcot-Marie-Tooth Disease Type 2B1
Axonal degeneration, Sensory axonal neuropathy, Decreased number of peripheral myelinated nerve f... ORPHA:98856
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Basal lamina onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decrea... OMIM:614895
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Interictal epileptiform activity, Tremor, Bilateral tonic-clonic seizure, Myoclonus, Focal sensor... OMIM:615400
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Difficulty walking, Myoclonic status epilepticus, EEG wi... OMIM:614018
Atypical Pantothenate Kinase-Associated Neurodegeneration
Irritability, Oromandibular dystonia, Depression, Chorea, Spasticity, Tremor, Upper motor neuron ... ORPHA:216873
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Reduced social reciprocity, Myoclonus, Postural tremor, Kinet... OMIM:611092
Dystonia 12
Bradykinesia, Torticollis, Depression, Emotional lability, Tremor, Dystonia, Unsteady gait, Parki... OMIM:128235
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Axonal degeneration/regeneration, Axonal degeneration OMIM:614436
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Epilepsy, Nocturnal Frontal Lobe, 2
Depression, Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Axonal degeneration/regeneration, Peripheral axonal atrophy, Onion bulb formation, Decreased numb... OMIM:605588
Null Syndrome
Demyelinating peripheral neuropathy, CNS hypomyelination, Peripheral demyelination ORPHA:280234
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Multifocal epileptiform discharges, Generalized myocloni... OMIM:615369
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Peripheral demyelination OMIM:607736
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:311070
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Difficulty walking, Inability to walk, Hypsarrhythmia, Bilateral tonic-clonic se... OMIM:616346
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Leukodystrophy, Hypomyelinating, 11
CNS hypomyelination, Leukodystrophy OMIM:616494
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, EEG with polyspike wave complexes, Truncal ataxia, Absence seizure... OMIM:618587
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Axonal degeneration/regeneration, Onion bulb formation, Decreased... OMIM:607706
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hypsarrhythmia, Athetosis... OMIM:618141
Lennox-Gastaut Syndrome
Irritability, Generalized myoclonic seizure, Focal-onset seizure, Falls, EEG with focal sharp slo... ORPHA:2382
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Cerebellar atrophy, Cerebral cortical atrophy, Neurodegeneration, Peripheral de... OMIM:617672
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Sensorineural hearing impairment, Seizure, Abnormal auditory evoked potential... ORPHA:320401
Landau-Kleffner Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Steppage gait, Focal myoclon... ORPHA:98818
Charcot-Marie-Tooth Disease, Type 4K
Peripheral demyelination, Axonal loss OMIM:616684
Charcot-Marie-Tooth Disease, Type 4J
Peripheral hypomyelination, Onion bulb formation, Axonal loss OMIM:611228
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Peripheral demyelination, Myelin tomacula, Decreased number of periph... OMIM:145900
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Depression, Tremor, Myoclonus OMIM:159900
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic... OMIM:128230
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, EEG with spike-wave complexes, ... OMIM:607682
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Axonal regeneration, Onion bulb formation OMIM:608323
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Impaired proprioception... ORPHA:251282
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia ORPHA:309169
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Decreased number of small peripheral myelinated nerve fibers, Clusters... ORPHA:101097
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Segmental peripheral demyelination/remyelination, Hypertrophic nerve changes OMIM:601098
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Falls, Truncal ataxia, Bilateral tonic-clonic seizure, Action myoclonus, Gait distur... OMIM:616230
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Hypsarrhythmia, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal im... OMIM:619970
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Depression, Dysdiadochokinesis, Head tremor, Actio... OMIM:604326
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Hypsarrhythmia, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Myocloni... OMIM:617389
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Distal sensory impairment, Difficulty walking OMIM:615048
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Gait disturbance... ORPHA:363710
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Depression, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus OMIM:162350
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination OMIM:162500
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Peripheral demyelination, Onion bulb formation, Decreased number of large peripheral myelinated n... OMIM:608340
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
CNS hypomyelination OMIM:620425
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, EEG with generalized polyspikes, Bilateral tonic-clonic ... OMIM:254770
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Depression, Tremor, Parkinsonism with favorable response to dopamine... ORPHA:314632
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Onion bulb formation OMIM:610100
Charcot-Marie-Tooth Disease, Type 4H
Peripheral hypomyelination, Onion bulb formation, Decreased number of peripheral myelinated nerve... OMIM:609311
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Developmental And Epileptic Encephalopathy 86
CNS hypomyelination OMIM:618910
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Emotional lability, Depression, Craniofacial dystonia,... ORPHA:71517
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Amyotrophic lateral sclerosis, Axonal loss OMIM:300857
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Depression, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Rigidi... OMIM:213600
Developmental And Epileptic Encephalopathy 59
Inability to walk, Hypsarrhythmia, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizur... OMIM:617904
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Focal-onset seizure, Depression, Emotional lability, Seizure, Tremor, Bilateral tonic-clonic seiz... OMIM:615362
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, EEG with polyspike wave c... OMIM:254800
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance, Intentio... ORPHA:98762
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Irritability, EEG abnormality, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Depression, Spasticity, Limb dystonia, Gait ataxia, Head tremor, Rigi... ORPHA:101109
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic ... OMIM:605021
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Peripheral axonal degeneration... OMIM:604168
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Segmental peripheral demyelination/remyelination ORPHA:2932
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, ... OMIM:302800
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
CNS hypomyelination OMIM:619688
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Cerebellar vermis atrophy, Decreased number of large peripheral mye... ORPHA:497764
Lissencephaly 10
Generalized non-motor (absence) seizure, Torticollis, Depression, Generalized-onset seizure, Bila... OMIM:618873
Episodic Ataxia, Type 5
Typical absence seizure, EEG with spike-wave complexes, Truncal ataxia, Episodic ataxia, Bilatera... OMIM:613855
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of large periphe... OMIM:617087
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Emotional lability, Status epilepticus, EEG abnormality, Bilateral tonic-clonic seizure OMIM:617171
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regene... OMIM:609260
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Depression, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:619191
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Depression, Rigidity, Dystonia, Parkinsonism OMIM:605909
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Neuropathy, Hereditary Motor And Sensory, Russe Type
Peripheral hypomyelination, Axonal regeneration, Decreased number of large peripheral myelinated ... OMIM:605285
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve fibers, Axonal dege... OMIM:615490
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst... OMIM:607317
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Hypsarrhythmia, Seizure, Bilateral tonic-clonic seizure... OMIM:616409
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Irritability, Multifocal epileptiform discharges, Bilateral tonic-clonic seizure, ... OMIM:609056
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Neuromyelitis Optica Spectrum Disorder
Neuronal loss in central nervous system, Peripheral demyelination ORPHA:71211
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination ORPHA:99944
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ... OMIM:616056
Generalized Epilepsy With Febrile Seizures-Plus
Generalized non-motor (absence) seizure, Bradykinesia, Generalized myoclonic seizure, Focal-onset... ORPHA:36387
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Depression, Parkinsonism with favorable response to dopaminergic me... OMIM:620482
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Depression, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Status epilep... OMIM:204300
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Generalized myoclonic seizure, Myoclonic absence seizure, Tremor, Bilateral tonic-c... OMIM:617836
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Dystonia, Status epilept... OMIM:618924
Spinocerebellar Ataxia 48
Babinski sign, Irritability, Depression, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinson... OMIM:618093
Pelizaeus-Merzbacher Disease
Optic atrophy, Global brain atrophy, Cerebral dysmyelination, Sudanophilic leukodystrophy, Abnorm... OMIM:312080
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Unsteady gait, Ankle clonus OMIM:615768
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Broad-based gait, Interictal epilep... OMIM:619157
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Generalized myoclonic seizure, Focal-onset seizure, Difficulty walking, Inability ... ORPHA:330050
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Focal-onset seizure, EEG with centrotemporal focal spike waves, Seizure, Bilateral tonic-clonic s... OMIM:245570
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Peripheral demyelination OMIM:618279
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Epilepsy, Familial Adult Myoclonic, 2
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Ble... OMIM:607876
Migraine, Familial Hemiplegic, 1
Hemiplegia, Hemiparesis, Tremor, Ataxia OMIM:141500
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l... OMIM:610245
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure OMIM:613722
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Segmental periphera... OMIM:604563
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
CNS hypomyelination, Leukodystrophy OMIM:617560
Developmental And Epileptic Encephalopathy 42
Tremor, Focal tonic seizure, Athetosis, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic ... OMIM:617106
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Hypsarrhythmia, Infantile spasms... ORPHA:98820
Chromosome 15Q11-Q13 Duplication Syndrome
Truncal ataxia, Seizure, Bilateral tonic-clonic seizure, Unsteady gait, EEG abnormality OMIM:608636
Multiple Mitochondrial Dysfunctions Syndrome 4
Leukodystrophy OMIM:616370
Subacute Inflammatory Demyelinating Polyneuropathy
Demyelinating motor neuropathy, Symmetric peripheral demyelination, Diffuse peripheral demyelinat... ORPHA:206594
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Myelin outfoldings, Irregular myelin loops OMIM:601382
Developmental And Epileptic Encephalopathy 43
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Atypical absence seizure, Myocl... OMIM:617113
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Hypsarrhythmia, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myocl... OMIM:616139
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... ORPHA:314978
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Emotional lability, Tremor, Waddling gait, Inappropriate laughter OMIM:616269
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Hyperphenylalaninemia, Bh4-Deficient, C
Irritability, Hypertonia, Tremor, Dystonia, Myoclonus, Choreoathetosis OMIM:261630
Progressive Multifocal Leukoencephalopathy
CNS demyelination, Abnormal astrocyte morphology, Abnormal oligodendroglia morphology ORPHA:217260
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration OMIM:616155
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral myelinated ner... OMIM:620542
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy OMIM:616763
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Depression, Parkinsonism with favorable response to dopaminergic me... OMIM:616710
Krabbe Disease
Optic atrophy, CNS demyelination, Diffuse cerebral atrophy, Neurodegeneration, Peripheral demyeli... OMIM:245200
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Peripheral demyelination OMIM:249900
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers OMIM:618184
Huntington Disease-Like 2
Bradykinesia, Irritability, Depression, Chorea, Action tremor, Rigidity, Dystonia OMIM:606438
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, P... ORPHA:210571
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Intention tremor, Action tremor, Ataxia, Unsteady gait OMIM:302500
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, EEG with sp... OMIM:614558
Cortical Malformations, Occipital
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Inability to walk,... OMIM:619317
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Charcot-Marie-Tooth Disease Type 4G
Peripheral axonal neuropathy, Demyelinating peripheral neuropathy, Peripheral demyelination ORPHA:99953
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Gliosis, Symmetric peripheral demyelination, Leukodystrophy, Corpus callosum atrophy OMIM:169500
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus, Somatic sen... ORPHA:98763
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Delayed early-childhood social milestone development, Tremor, Gait disturbance... OMIM:618090
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
CNS hypomyelination, Cerebral hypomyelination ORPHA:369939
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Developmental And Epileptic Encephalopathy 79
CNS hypomyelination OMIM:618559
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with spike-wave compl... OMIM:600669
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Depression, Chorea, Tremor, Action tremor, Dystonia, Ataxia, ... OMIM:619738
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:600363
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Irritability, Generalized myoclonic seizure, EEG with ir... ORPHA:86909
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of large peripheral myelinat... OMIM:208920
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis, Difficulty walking OMIM:158580
Developmental And Epileptic Encephalopathy 78
CNS hypomyelination OMIM:618557
Developmental Delay With Or Without Epilepsy
Generalized non-motor (absence) seizure, Spastic gait, Focal-onset seizure, EEG with polyspike wa... OMIM:620540
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Distal sensory impairment, Impaired tactile sensation, Resting tremo... OMIM:617225
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Developmental And Epileptic Encephalopathy 14
Cerebral cortical atrophy, Neuronal loss in central nervous system, Gliosis, Delayed CNS myelination OMIM:614959
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
CNS hypomyelination, Leukodystrophy ORPHA:527497
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy, Onion bulb formation OMIM:615035
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Gait imbalance, Seizure, Bilateral tonic-clonic seizure, Ataxia, U... OMIM:301020
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Cerebellar vermis atrophy, Brain atrophy, Cerebellar atrophy, Corpus callosum atro... OMIM:614877
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl... ORPHA:306692
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa... ORPHA:276435
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Intention tremor OMIM:617863
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Axonal degeneration OMIM:620011
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, Focal myoclonic seizure, Photosensitive myoclonic seizure, Focal EEG discharges wi... ORPHA:263516
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Late-Infantile/Juvenile Krabbe Disease
Irritability, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduct... ORPHA:206443
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Depression, Truncal ataxia, Tremor, Gait disturbance, ... ORPHA:98764
Glycosylphosphatidylinositol Biosynthesis Defect 15
Generalized non-motor (absence) seizure, Optic atrophy, Inability to walk, Tremor, Bilateral toni... OMIM:617810
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Axonal degeneration/regeneration, Peripheral axonal atrophy, Decreased number of peripheral myeli... OMIM:600882
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, 6
Leukodystrophy OMIM:618866
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral hypomyelination OMIM:300475
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Alternating Hemiplegia Of Childhood 1
Dystonia, Bilateral tonic-clonic seizure, Choreoathetosis OMIM:104290
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Depression, Tremor, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
Parkinsonism With Polyneuropathy
Bradykinesia, Resting tremor, Depression, Parkinsonism with favorable response to dopaminergic me... OMIM:619279
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Peripheral axonal neuropathy, Cerebellar atrophy, Decreased number of periphera... OMIM:607250
Dystonia 22, Juvenile-Onset
Oromandibular dystonia, Torticollis, Dysdiadochokinesis, Bilateral tonic-clonic seizure, Intentio... OMIM:620453
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Depression, Tremor, Parkinsonism with favorable response to dopaminergic med... ORPHA:240085
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Axonal degeneration, Optic neuropathy, Delayed myelination, Diffuse cerebel... ORPHA:478029
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Global brain atrophy, Axonal degeneration, Cerebellar atrophy, Optic neuropathy, D... OMIM:616811
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607831
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, EEG with spike-wave c... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, EEG with spike-wave c... OMIM:607681
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, Generalized-onset sei... ORPHA:1941
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Axonal degeneration OMIM:618138
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, EEG with focal spikes, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic s... ORPHA:140927
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Depression, Tremor, Ataxia, ... OMIM:616795
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
CNS hypomyelination, Delayed CNS myelination OMIM:616158
Leukodystrophy, Hypomyelinating, 22
CNS hypomyelination OMIM:619328
Abetalipoproteinemia
CNS demyelination, Peripheral demyelination OMIM:200100
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Emotional lability, Chorea, Spasticity, Tremor, Blep... OMIM:606159
Kaya-Barakat-Masson Syndrome
CNS hypomyelination OMIM:619125
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Myoclonic absence seizure, Increased theta frequency activity ... OMIM:619000
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Gait disturbance, Action tremor, Rigidit... OMIM:300423
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Lethal Congenital Contracture Syndrome 8
Peripheral hypomyelination, Facial diplegia OMIM:616287
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... ORPHA:391411
Developmental And Epileptic Encephalopathy 5
CNS hypomyelination OMIM:613477
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with polyspike wave c... OMIM:611364
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration OMIM:618811
Leukodystrophy, Hypomyelinating, 5
CNS hypomyelination, Onion bulb formation, Leukodystrophy OMIM:610532
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Inappropriate behavior, Oculomotor apraxia, Falls, Tremor by anatomical site, Extra... ORPHA:99750
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... ORPHA:99657
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Stxbp1-Related Encephalopathy
Inability to walk, Spasticity, Tremor, Dystonia, Ataxia, Spastic tetraplegia ORPHA:599373
Developmental And Epileptic Encephalopathy 71
CNS demyelination, Gliosis OMIM:618328
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Tremor, Ataxia, Gait disturbance ORPHA:101075
Leukodystrophy, Childhood-Onset, Remitting
Leukodystrophy OMIM:619864
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, EEG abnormality OMIM:612621
Developmental And Epileptic Encephalopathy 91
Multifocal epileptiform discharges, Epileptic spasm, Hypsarrhythmia, Seizure, Focal motor seizure... OMIM:617711
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Degeneration of anterior horn cells, Peripheral axonal degeneration, Axonal degeneration OMIM:604320
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Inability to walk, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, Condu... OMIM:618497
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
CNS hypomyelination, Delayed CNS myelination OMIM:616577
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Irritability, Decreased nerve conduction velocity, Inability to walk, Bilateral to... ORPHA:457205
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Abnormal amplitude of patte... OMIM:125250
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, EEG with polyspike wa... OMIM:619913
Leukoencephalopathy With Vanishing White Matter 1
CNS demyelination, Cerebral hypomyelination OMIM:603896
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturbance, Gait ataxia, Dysto... OMIM:617145
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
CNS hypomyelination OMIM:615281
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Seizure, Facial palsy, Absent brainstem auditory responses, EEG... OMIM:617519
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Anemia, Infantile spasms, Chronic neutropenia, Bilateral tonic-clonic seizur... OMIM:619302
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Focal atonic seizure, Infantile spasms, EEG w... ORPHA:101071
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Normal interictal EEG, Bilateral tonic-clonic seizure, Bilatera... OMIM:607745
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Distal sensory impairment, Tremor, Gait ataxia, Ataxia, Dysmetria OMIM:618387
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Irritability, Myoclonic status epilepticus, Inability to walk, Hypsarrhythmia, F... OMIM:617105
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Developmental And Epileptic Encephalopathy 47
Multifocal epileptiform discharges, Limb ataxia, Focal-onset seizure, Inability to walk, Hypsarrh... OMIM:617166
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers OMIM:615376
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
CNS hypomyelination OMIM:615760
Leukodystrophy, Hypomyelinating, 15
CNS hypomyelination, Leukodystrophy OMIM:617951
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Neuronal loss in central nervous system, Gliosis, Abnormal lower motor neuron m... OMIM:105550
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Limb myoclonus, Waddling gait, F... ORPHA:2590
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Glut1 Deficiency Syndrome 2
Irritability, Tremor, Dystonia, Ataxia, Choreoathetosis OMIM:612126
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Tremor, Ataxia, Gait disturbance ORPHA:101078
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Tremor, Gait disturbance, Spastic paraparesis, Somatic sen... ORPHA:101077
Phenylketonuria
Depression, Tremor, Ataxia, Lower limb spasticity ORPHA:716
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
CNS hypomyelination, Leukodystrophy OMIM:607694
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav... ORPHA:53351
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Limb dystonia OMIM:620270
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Seizure, Athetosis, Bilateral tonic-clonic seizure, Atonic seizure... ORPHA:382
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Irritability, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Park... OMIM:261640
Huppke-Brendel Syndrome
CNS hypomyelination OMIM:614482
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Unsteady gait, Dysmetria OMIM:213200
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
CNS hypomyelination OMIM:620023
Hsd10 Disease
Abnormal social behavior, Tremor, Gait disturbance, Rigidity, Ataxia, Myoclonus, Spastic parapare... ORPHA:391417
Trigeminal Neuralgia
CNS demyelination, Peripheral demyelination, Cranial nerve compression ORPHA:221091
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Peripheral dysmyelination ORPHA:101082
Hereditary Methemoglobinemia
Delayed myelination, Cerebral hypomyelination ORPHA:621
Peroxisome Biogenesis Disorder 11A (Zellweger)
CNS hypomyelination OMIM:614883
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Ataxia, Myoclonus, Impaired tandem gait, Dysmetria OMIM:619028
Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Cerebral hypomyelination OMIM:612438
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Distal sensory impairment, Inability to walk, Tremor, Fatiguable weakness of... ORPHA:90117
Multiple Mitochondrial Dysfunctions Syndrome 5
Delayed myelination, Leukodystrophy OMIM:617613
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Hypertonia, Lower limb spasticity, Fasciculations, Spastic tetraparesis, Exaggerat... OMIM:618598
Familial Dyskinesia And Facial Myokymia
Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus ORPHA:324588
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Developmental And Epileptic Encephalopathy 52
Limb ataxia, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atypical abs... OMIM:617350
Familial Infantile Myoclonic Epilepsy
Generalized myoclonic seizure, Simple febrile seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:352582
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Seizure, Focal motor seizure, Freezing of gait, Bilateral... OMIM:619911
Monomelic Amyotrophy
Fasciculations, Tremor, Degeneration of anterior horn cells ORPHA:65684
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Distal sensory impairment, Impaired pain sensation, Spasticity, Tremor, Frequent fal... OMIM:616719
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Dystonia, Ataxia, Loss of ambulation, Dysmetria OMIM:617916
Late Infantile Neuronal Ceroid Lipofuscinosis
Focal-onset seizure, Myoclonic seizure, Atonic seizure, Ataxia, Myoclonus, EEG with spike-wave co... ORPHA:168491
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Spastic Paraplegia 44, Autosomal Recessive
CNS hypomyelination OMIM:613206
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Axonal loss OMIM:614455
Charcot-Marie-Tooth Disease, Type 4B3
Brain atrophy, Onion bulb formation, Myelin outfoldings OMIM:615284
Huntington Disease
Neuronal loss in central nervous system, Gliosis, Cerebellar atrophy OMIM:143100
Leukodystrophy, Hypomyelinating, 2
Demyelinating motor neuropathy, Leukodystrophy, Cerebral hypomyelination OMIM:608804
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination ORPHA:431329
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Dystonia, Ataxia, ... OMIM:618049
Epilepsy, Familial Focal, With Variable Foci 4
Simple febrile seizure, Focal-onset seizure, Abnormal autonomic nervous system physiology, Bilate... OMIM:617935
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Leukodystrophy OMIM:619196
Urocanic Aciduria
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Inability to walk, Hypsarrhythmia, Focal emotional seizure with laughing, Bilate... ORPHA:293181
Atypical Rett Syndrome
Pill-rolling tremor, Inability to walk, Apraxia, Impaired pain sensation, Spasticity, Tremor, Gai... ORPHA:3095
Developmental And Epileptic Encephalopathy 93
CNS hypomyelination OMIM:618012
Alg2-Cdg
Cerebral hypomyelination ORPHA:79326
Dyskinesia With Orofacial Involvement, Autosomal Dominant