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
increased grip strength Magtm1.1(KOMP)Vlcg HOM Early adult 6.31×10-05
abnormal sleep behavior Magtm1.1(KOMP)Vlcg HOM Early adult 3.94×10-06
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
convulsive seizures Magtm1.1(KOMP)Vlcg HOM Early adult 3.70×10-15
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 6.77×10-05
decreased leukocyte cell number Magtm1.1(KOMP)Vlcg HOM   Early adult 7.62×10-05

Download data as:  TSV  XLS

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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
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 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Section

15 Images

Sleep Wake

Wake state (bmp file)

7 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Spasticity, Abnormal pyramidal sign, Titubation, Spastic paraplegia, Babinski sign, Dysmetria, Im... ORPHA:459056
Spastic Paraplegia 75, Autosomal Recessive
Spasticity, Impaired distal vibration sensation, Abnormal pyramidal sign, Spastic gait, Spastic d... 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
Vertigo, Benign Recurrent
Gait imbalance OMIM:193007
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... 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
Leukodystrophy, Abnormal CNS myelination DECIPHER:38
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:214400
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:607734
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized sp... OMIM:601068
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating motor neuropathy, Demyelinating s... ORPHA:208981
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Gliosis, Degeneratio... OMIM:604484
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Inability to walk, Hypsarrhythmia, Focal clonic seizure, Tonic seizure, Bilate... OMIM:615006
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Myoclonus, Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, ... OMIM:613608
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination ORPHA:85163
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor OMIM:160120
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination ORPHA:88637
Intellectual Developmental Disorder, Autosomal Recessive 4
Delayed myelination OMIM:611107
Epilepsy, Familial Adult Myoclonic, 4
Seizure, EEG with polyspike wave complexes, Myoclonus, Jerk-locked premyoclonus spikes, Bilateral... OMIM:615127
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Axonal degeneration/regeneration, Segmental peripheral demyelination, Segme... OMIM:606483
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Hypsarrhythmia, Multifocal epileptiform discharges, Tonic seizure, Bilateral t... OMIM:619964
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating motor neuropathy, Demyelinating sensory neuropathy OMIM:182815
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... OMIM:614561
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Motor axonal neuropathy, Axonal loss, Dec... ORPHA:98856
Charcot-Marie-Tooth Disease, Type 4C
Segmental peripheral demyelination, Peripheral axonal degeneration, Decreased motor nerve conduct... OMIM:601596
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:180800
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Peripheral axonal degeneration, Abnormal lower motor neuron ... OMIM:602433
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:118200
Spinocerebellar Ataxia 43
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory impairment OMIM:617018
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decr... OMIM:601098
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Charcot-Marie-Tooth Disease, Type 4J
Onion bulb formation, Axonal loss, Decreased motor nerve conduction velocity, Peripheral hypomyel... OMIM:611228
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... OMIM:600512
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Continuous Spikes And Waves During Sleep
EEG with centrotemporal focal spike waves, Aggressive behavior, Typical absence seizure, Seizure,... ORPHA:725
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, EEG with generalized epileptiform discharges, Myoclonus, Ataxia, Bilateral ton... OMIM:616187
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... OMIM:608340
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... OMIM:605253
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:118220
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Onion bulb formation, Peripheral demyelination OMIM:615185
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Motor conduction block, Decreased nerve conduction velocity, ... ORPHA:2932
Spinocerebellar Ataxia Type 31
Gait ataxia, Impaired vibratory sensation, Spasticity, Tremor ORPHA:217012
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Broad-based gait, Spastic paraparesis, Dys... OMIM:616053
Null Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy, Demyelinating peripheral neuropathy, D... ORPHA:280234
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Delayed speech and language development, Limb dystonia, Myoc... OMIM:605407
Developmental And Epileptic Encephalopathy 104
Seizure, Self-injurious behavior, Hypsarrhythmia, Clonic seizure, Tonic seizure, Bilateral tonic-... OMIM:619970
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Paroxysmal dystonia, Writer's cramp, Myoclonus, Hand tremor, Bilateral tonic... OMIM:608105
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:614895
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Delayed speech and language development, Torticollis, Ataxia, Tremor, Hyperkinetic moveme... OMIM:618425
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Axonal degeneration/re... OMIM:614436
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Gait ataxia, Seizure, EEG abnormality, Generalized myoclonic seizure, Ataxia, ... OMIM:617831
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral axonal d... OMIM:607706
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:605588
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-i... OMIM:614417
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Anxiet... ORPHA:401901
Intellectual Developmental Disorder, Autosomal Recessive 60
Delayed CNS myelination OMIM:617432
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Spinocerebellar Ataxia Type 38
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking ORPHA:423296
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Diffuse peripheral demyelination, Axonal loss, Decreased motor nerve cond... ORPHA:206594
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Gliosis, Cerebral atrophy, Caudate atrophy, Abnormal upper motor neuron morphology, ... OMIM:221770
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Inertia, Parkinsonism, Rigidity, Limb dystonia, Clum... ORPHA:216873
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Focal dystonia, Tremor, Anxiety, Dystonia, Fasciculations ORPHA:309169
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Myoclonus, Interictal epileptiform activity, Bilatera... OMIM:615400
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:145900
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Ataxia, Babinski sign OMIM:611105
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination OMIM:162500
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Myoclonic status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, ... OMIM:614018
Developmental And Epileptic Encephalopathy 59
Self-injurious behavior, Inability to walk, Hypsarrhythmia, Multifocal epileptiform discharges, F... OMIM:617904
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait OMIM:616921
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Impaired social interactions, Torticollis, Myoclonus, Kinetic tremor, Involuntar... OMIM:611092
Lennox-Gastaut Syndrome
Generalized tonic seizure, Aggressive behavior, Falls, EEG abnormality, Focal-onset seizure, Myoc... ORPHA:2382
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis OMIM:158580
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Multifocal epileptiform discharges... OMIM:615369
Dystonia 11, Myoclonic
Anxiety, Writer's cramp, Torticollis, Myoclonus, Tremor, Panic attack, Agoraphobia OMIM:159900
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Cavitating leukodystrophy OMIM:619061
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination OMIM:311070
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Hypsarrhythmia, Generalized myoclonic seizure, Gait disturbance, Focal hemicloni... OMIM:618141
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Absence seizure with eyelid myoclonia, EEG with polyspike wave complexes, Truncal at... OMIM:618587
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, CNS hypomyelination OMIM:616494
Developmental And Epileptic Encephalopathy 9
Aggressive behavior, Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Foca... OMIM:300088
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy OMIM:610100
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Neurodegeneration With Brain Iron Accumulation 8
Delayed speech and language development, Ataxia, Dysmetria, Tremor, Loss of ambulation, Unsteady ... OMIM:617917
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with polyspike wave complexes OMIM:611364
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, EEG abnormality, Status epilepticus, Emotional lability, Bilateral tonic-clo... OMIM:617171
Migraine, Familial Hemiplegic, 1
Hemiparesis, Hemiplegia, Ataxia, Tremor, Anxiety OMIM:141500
Charcot-Marie-Tooth Disease, Type 4K
Peripheral demyelination, Axonal loss OMIM:616684
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Aggressive behavior, Seizure, Focal-onset seizure, Interictal epileptiform act... OMIM:619157
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus, Ataxia ORPHA:22
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Aggressive behavior, Typical absence seizure, Seizure, Hypsarrhythmia, Bilater... OMIM:616409
Dystonia, Dopa-Responsive
Gait ataxia, Impaired distal vibration sensation, Spasticity, Postural tremor, Dysdiadochokinesis... OMIM:128230
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Peripheral demyelination OMIM:607736
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Axonal loss, Peripheral axonal degeneration, Decreased number of small... ORPHA:101097
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609311
Spinocerebellar Ataxia Type 20
Gait ataxia, Tremor by anatomical site, Abnormal pyramidal sign, Upper limb postural tremor, Atax... ORPHA:101110
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Falls, Generalized myoclonic seizure, Bilate... ORPHA:139426
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Axonal loss, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration, ... OMIM:617672
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... OMIM:607682
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of large periphe... OMIM:605285
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Optic atrophy, Decr... OMIM:609260
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus OMIM:603204
Dystonia 12
Parkinsonism, Torticollis, Emotional lability, Tremor, Anxiety, Unsteady gait, Dystonia, Bradykin... OMIM:128235
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Urocanase Deficiency
Gait ataxia, Aggressive behavior, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait OMIM:276880
Developmental And Epileptic Encephalopathy 53
Myoclonic seizure, Seizure, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure, Convul... OMIM:617389
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations OMIM:615048
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Peripheral hypomyelina... OMIM:604168
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturban... ORPHA:363710
Epilepsy, Progressive Myoclonic, 8
Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Gait disturbance, Bilateral tonic... OMIM:616230
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral axonal d... OMIM:302800
Autosomal Dominant Epilepsy With Auditory Features
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... ORPHA:101046
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Abnormality of peripheral nerve conduction, Decreased amplitude of sensory action potentials, Dec... ORPHA:90103
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Amyotrophic lateral sclerosis, Axonal loss OMIM:300857
Charcot-Marie-Tooth Disease Type 4G
Motor conduction block, Decreased motor nerve conduction velocity, Demyelinating peripheral neuro... ORPHA:99953
Landau-Kleffner Syndrome
Generalized clonic seizure, Interictal EEG abnormality, EEG with temporal focal spikes, Focal imp... ORPHA:98818
Cyanide-Induced Parkinsonism-Dystonia
Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Falls, Apathy, Short stepped shuffling ga... ORPHA:306692
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:615490
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Segmental peripheral demyelination/remyelination, Decreased nerve conductio... OMIM:601455
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Peripheral demyelination, Decreased compound muscle action potential amplitude OMIM:618279
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Bradyki... ORPHA:36387
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... OMIM:260300
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination OMIM:249900
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Myoclonus, Interictal epileptiform activity, Ataxia, Bilateral... OMIM:254800
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:604563
Intellectual Developmental Disorder, Autosomal Recessive 48
Aggressive behavior, Inability to walk, Emotional lability, Absent speech, Tremor, Self-mutilatio... OMIM:616269
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia OMIM:300911
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... ORPHA:306
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Tremor by anatomical site, Abnormal pyramidal sign, Postural tremor... ORPHA:98762
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor OMIM:612437
Tremor, Hereditary Essential, 6
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystoni... ORPHA:454887
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Irregular myelin loops, Myelin outfoldings, Facial palsy OMIM:601382
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
CNS hypomyelination OMIM:619688
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Lissencephaly 10
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... OMIM:618873
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Bilateral tonic-clonic seizure, Irritability, Focal impaired awareness seizure, EEG abnormality OMIM:610003
Myoclonic Epilepsy, Familial Infantile
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Seizure, Focal-onset ... OMIM:605021
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Krabbe Disease
Optic atrophy, CNS demyelination, Diffuse cerebral atrophy, Decreased nerve conduction velocity, ... OMIM:245200
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Seizure, Abnorm... ORPHA:320401
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure, Aggressive behavior, Ataxia OMIM:617709
Episodic Ataxia, Type 5
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Truncal a... OMIM:613855
Developmental And Epileptic Encephalopathy 86
CNS hypomyelination OMIM:618910
Autosomal Dominant Spastic Ataxia Type 1
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria... ORPHA:251282
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Anxiety,... OMIM:604326
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, EEG abnormality, Truncal ataxia, Bilateral tonic-clonic seizure, Unsteady gait OMIM:608636
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Huntington Disease-Like 2
Chorea, Inertia, Rigidity, Apathy, Action tremor, Anxiety, Irritability, Dystonia, Bradykinesia OMIM:606438
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... OMIM:607317
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
Spinocerebellar Ataxia Type 43
Cerebellar vermis atrophy, Peripheral axonal neuropathy, Decreased number of large peripheral mye... ORPHA:497764
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Spastic dysarthria, Intention tremor, Babinski sign, Action tremor, F... ORPHA:314978
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Neuromyelitis Optica Spectrum Disorder
Neuronal loss in central nervous system, Peripheral demyelination ORPHA:71211
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Delayed speech and language development, Myoclonus, Ataxia, ... OMIM:615924
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Tip-toe gait, Delayed speech and language development, Torticollis, Myoc... OMIM:617284
Dravet Syndrome
Myoclonic seizure, Generalized clonic seizure, Focal aware seizure, Generalized myoclonic seizure... OMIM:607208
Episodic Ataxia, Type 9
Seizure, Status epilepticus, Clonic seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clon... OMIM:618924
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... OMIM:254770
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Multifocal epileptiform discharges, Myoclonus, Status epilepticus, Choreoathetosis... OMIM:609056
Developmental And Epileptic Encephalopathy 42
Myoclonic seizure, EEG abnormality, Focal tonic seizure, Ataxia, Tonic seizure, Bilateral tonic-c... OMIM:617106
Guanidinoacetate Methyltransferase Deficiency
Aggressive behavior, Seizure, Self-injurious behavior, Generalized myoclonic seizure, Ataxia, Bil... ORPHA:382
Spastic Paraplegia 78, Autosomal Recessive
Gait ataxia, Aggressive behavior, Abnormal pyramidal sign, Falls, Resting tremor, Spastic tetrapl... OMIM:617225
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor, Unsteady gait OMIM:615768
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Delayed speech and language development, Myoclonus, Tremor, Frequent falls, Dystonia OMIM:619647
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Emotional lability, Cranio... ORPHA:71517
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Head titubation, Frequ... OMIM:611302
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Choreoathetosis, Tonic seizure, Bilateral tonic-cloni... OMIM:618396
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia OMIM:600116
Developmental Delay And Seizures With Or Without Movement Abnormalities
EEG abnormality, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Tremor, M... OMIM:617836
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Gait ataxia, Limb ataxia, Babinski sign, Dysmetr... OMIM:610245
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Ataxia, Jerk-locked premyoclonus spikes, EEG with irregular generalized... OMIM:607876
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk OMIM:619639
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Leukodystrophy, CNS hypomyelination OMIM:617560
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure, Epileptic spasm OMIM:613722
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:600882
Pelizaeus-Merzbacher Disease
Global brain atrophy, Cerebellar vermis atrophy, Sudanophilic leukodystrophy, Optic atrophy, Abno... OMIM:312080
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure with focal onset, Hypsarrhythmia, Bilateral tonic-clonic seizure, ... OMIM:616056
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Tremor, Bradykinesia OMIM:610297
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, De... OMIM:618184
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Aggressive behavior, Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Genera... OMIM:618357
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Involuntary movements, Rigi... ORPHA:240103
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Seizure, Optic atrophy, Inability to walk, Focal-onset seizure, Generalized myoclonic seizure, Oc... ORPHA:330050
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Inability to walk, Rigidity, Delayed speech and language development, Gait disturban... OMIM:618090
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Seizure, Focal-onset seizure, Myoclonus, Ataxia, Emotional lability, Bilateral tonic... OMIM:615362
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... ORPHA:79262
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure with focal onset, Seizu... OMIM:245570
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Abnormal oligodendroglia morphology, CNS demyelination ORPHA:217260
Familial Focal Epilepsy With Variable Foci
Focal-onset seizure, Hypsarrhythmia, Interictal EEG abnormality, Multifocal epileptiform discharg... ORPHA:98820
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Hypsarrhythmia, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Infant... OMIM:617113
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Delayed speech and language development, Tremor, Ataxia OMIM:619099
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Ataxia, Impaired pain sensation, Tremor, Language impairment ORPHA:101075
Tremor, Hereditary Essential, 1
Hand tremor, Action tremor, Postural tremor OMIM:190300
Developmental And Epileptic Encephalopathy 27
Myoclonic seizure, Seizure, Hypsarrhythmia, Myoclonus, Bilateral tonic-clonic seizure, Infantile ... OMIM:616139
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy OMIM:616763
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor OMIM:616291
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Anxiety, Irritabilit... OMIM:618093
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration OMIM:616155
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Increased theta frequency activity in EEG, EEG with polyspike wave complexes, ... OMIM:619000
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Choreoathetosis, Tremor, Hypertonia, Irritability, Dystonia OMIM:261630
Developmental And Epileptic Encephalopathy 54
Seizure, EEG abnormality, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic s... OMIM:617391
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Decreased motor nerv... OMIM:607831
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Difficulty walking, Anxiety OMIM:619191
Developmental And Epileptic Encephalopathy 13
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... OMIM:614558
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Inability to walk, Focal-onset seizur... OMIM:619317
Developmental And Epileptic Encephalopathy 97
Delayed speech and language development, Tremor, Inability to walk OMIM:619561
Dystonia 16
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Unsteady gait... ORPHA:210571
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Anxiety, Dystonia, Bradykinesia OMIM:605909
Multiple Mitochondrial Dysfunctions Syndrome 4
Leukodystrophy OMIM:616370
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Parkinsonism, Rigidity, Delayed speech and language development, Apraxia, Gait... OMIM:300423
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Gait disturbance, Tr... OMIM:213600
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Gait disturbance, Resting tremor OMIM:616710
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear/anxiety-related behavior, Aggressive behavior, Seizure, Suicidal ideation, Bilatera... ORPHA:208441
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure, EEG abnormality OMIM:614115
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Unsteady gait, Intention tremor OMIM:302500
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor OMIM:607458
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Developmental And Epileptic Encephalopathy 79
CNS hypomyelination OMIM:618559
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Delayed speech and language development, Myoclonus, Tremor, Anxiety, Dystonia OMIM:619651
Spinocerebellar Ataxia Type 14
Gait ataxia, Somatic sensory dysfunction, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive c... ORPHA:98763
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Myoclonus, Ge... ORPHA:86909
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral hypomyelination, CNS hypomyelination ORPHA:369939
Developmental And Epileptic Encephalopathy 14
Neuronal loss in central nervous system, Delayed CNS myelination, Cerebral cortical atrophy, Gliosis OMIM:614959
Dopa-Responsive Dystonia
Inability to walk, Upper motor neuron dysfunction, Difficulty walking, Arm dystonia, Lethargy, Sl... ORPHA:255
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Aggressive behavior, Impaired social interactions, Hyperkinetic movements, Parkinsonism, ... OMIM:619738
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with spike-wave complexes (>3.... OMIM:600669
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Spastic gait, Babinski sign, Spastic paraplegia,... OMIM:600363
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Symmetric peripheral demyelination, Corpus callosum atrophy, Gliosis OMIM:169500
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Myoclonus, Ataxia, Bilateral tonic-clonic seizure OMIM:162350
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Lower Motor Neuron Syndrome With Late-Adult Onset
Impaired distal vibration sensation, Inability to walk, Gait disturbance, Upper motor neuron dysf... ORPHA:276435
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Delayed myelination, CNS hypomyelination OMIM:618367
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Loss of ambulation, ... ORPHA:521406
Developmental And Epileptic Encephalopathy 78
CNS hypomyelination OMIM:618557
Leukodystrophy, Hypomyelinating, 5
Leukodystrophy, Onion bulb formation, CNS hypomyelination OMIM:610532
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of large peripheral myelinat... OMIM:208920
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Peripheral axonal neuropathy, Optic atrophy OMIM:615035
Peroxisome Biogenesis Disorder 8B
Cerebellar vermis atrophy, Brain atrophy, Optic atrophy, Leukodystrophy, Cerebellar atrophy, Corp... OMIM:614877
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... ORPHA:101039
Autosomal Recessive Dopa-Responsive Dystonia
Gait ataxia, Generalized dystonia, Postural tremor, Parkinsonism, Rigidity, Delayed speech and la... ORPHA:101150
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Axonal degeneration, Peripheral axonal neuropathy OMIM:620011
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Leukodystrophy, CNS hypomyelination ORPHA:527497
Mitochondrial Complex I Deficiency, Nuclear Type 12
Gait imbalance, Seizure, Myoclonus, Generalized myoclonic seizure, Choreoathetosis, Progressive s... OMIM:301020
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Rigidity, Apathy, Parkinsonism with favorable response to dopaminergic medication, Tremor,... ORPHA:240085
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Aggressive behavior, Delayed speech and language development, Ataxia, Absent speech, ... OMIM:300983
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure, Choreoathetosis, Dystonia OMIM:104290
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Chin myoclonus, Op... ORPHA:263516
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... OMIM:606324
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Seizure, EEG abnormality, Absent brainstem auditory responses, ... OMIM:617519
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral hypomyelination OMIM:300475
Spinocerebellar Ataxia, Autosomal Recessive 2
Gait ataxia, Spasticity, Delayed speech and language development, Limb ataxia, Incoordination, At... OMIM:213200
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal degeneration, Degener... OMIM:604320
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Neurodegeneration With Brain Iron Accumulation 7
Delayed speech and language development, Ataxia, Dysmetria, Tremor, Loss of ambulation, Lower lim... OMIM:617916
Developmental And Epileptic Encephalopathy 24
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... OMIM:615871
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Gait ataxia, Optic atrophy, EEG abnormality, Inability to walk, Bilateral toni... OMIM:617810
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
Cerebral Creatine Deficiency Syndrome 2
Aggressive behavior, Rigidity, Delayed speech and language development, Paraparesis, Myoclonus, A... OMIM:612736
Spinocerebellar Ataxia Type 27
Gait ataxia, Aggressive behavior, Akinesia, Truncal ataxia, Hand tremor, Limb ataxia, Gait distur... ORPHA:98764
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ankle clonus, Abnormal pyramidal sign, Ataxia, Babinski sign, Absen... OMIM:618598
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Aggressive behavior, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612716
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Gait ataxia, Diminished motivation, Aggressive behavior, Gait apraxia, Dysdiadochokinesis, Impair... OMIM:615157
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Decreased nerve conduction velocity, Peripheral axonal neuropathy ORPHA:101082
Abetalipoproteinemia
CNS demyelination, Peripheral demyelination OMIM:200100
Developmental And Epileptic Encephalopathy 71
CNS demyelination, Gliosis OMIM:618328
Parkinson Disease 17
Resting tremor, Parkinsonism, Rigidity, Akinesia, Tremor, Bradykinesia OMIM:614203
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
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Absent speech OMIM:618951
Atypical Juvenile Parkinsonism
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Resting tremor, Akinesia, Rigidity, Inabili... ORPHA:391411
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, EEG wit... ORPHA:1941
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic-clonic se... OMIM:607631
Developmental And Epileptic Encephalopathy 5
CNS hypomyelination OMIM:613477
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Emoti... OMIM:606159
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia, Absent speech OMIM:616366
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Delayed myelination, Diffuse cerebellar atrophy, Optic neuropathy, Axonal d... ORPHA:478029
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... OMIM:613135
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration OMIM:618811
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Delayed CNS myelination, CNS hypomyelination OMIM:616158
Combined Oxidative Phosphorylation Deficiency 29
Global brain atrophy, Optic atrophy, Delayed CNS myelination, Optic neuropathy, Cerebellar atroph... OMIM:616811
Dystonia 16
Retrocollis, Abnormal pyramidal sign, Postural tremor, Parkinsonism, Delayed speech and language ... OMIM:612067
Primary Dystonia, Dyt2 Type
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... ORPHA:99657
Kaya-Barakat-Masson Syndrome
CNS hypomyelination OMIM:619125
Leukodystrophy, Hypomyelinating, 22
CNS hypomyelination OMIM:619328
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Seizure, EEG abnormality, Self-injurious behavior, Generalized myoclonic sei... OMIM:271980
Developmental And Epileptic Encephalopathy 93
CNS hypomyelination OMIM:618012
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Ataxia, Bila... OMIM:204300
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Myoclonus, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic... OMIM:616540
Leukodystrophy, Childhood-Onset, Remitting
Leukodystrophy OMIM:619864
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Optic atrophy, Limb ataxia, Ataxia, Bilateral tonic-clonic seizure OMIM:614322
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Brain atrophy, Decreased nerve conduction velocity, Myelin outfoldings OMIM:615284
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Resting tremor, Limb hypertonia, Involuntary movements, Myoclonus, Choreoathetosis, Parox... OMIM:606703
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
CNS hypomyelination OMIM:615281
Late-Infantile/Juvenile Krabbe Disease
Febrile seizure (within the age range of 3 months to 6 years), Seizure, EEG with persistent abnor... ORPHA:206443
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Conductive hearing impairment, Seizure, Inability to walk, Myoclonus, Choreoat... OMIM:618497
Unilateral Hemispheric Polymicrogyria
Focal-onset seizure, Generalized myoclonic seizure, Focal atonic seizure, Bilateral tonic-clonic ... ORPHA:101071
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Hypsarrhythmia, Generalized myoclonic seizure, Seizure OMIM:616341
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus, Dystonia, Splenomegaly ORPHA:139406
Leukoencephalopathy With Vanishing White Matter 1
Cerebral hypomyelination, CNS demyelination OMIM:603896
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Tremor by anatomical site, Abnormal pyramidal sign, Falls, Deficit in grammar, Par... ORPHA:99750
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Epileptic spasm, EEG with polyspike wave complexes, EEG with burst suppression... OMIM:619913
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Chronic neutropenia, Focal-onset seizure, Bilateral tonic-clonic seizure, Infa... OMIM:619301
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity OMIM:619028
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Chronic neutropenia, Anemia, Focal-onset seizure, Bilateral tonic-clonic seizu... OMIM:619302
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Focal motor seizure, Hypsarrhythmia, Multifocal epileptiform discharg... OMIM:617711
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... OMIM:617145
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Neuronal loss in central nervous system, Abnormal lower motor neuron morphology, Amyotrophic late... OMIM:105550
Kufor-Rakeb Syndrome
Spasticity, Aggressive behavior, Akinesia, Parkinsonism, Rigidity, Torticollis, Paraparesis, Park... OMIM:606693
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Delayed CNS myelination, CNS hypomyelination OMIM:616577
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Palilalia, Blepharospasm, Gait imbalance, Falls, Akinesia, Rigidity, Oculomotor apraxia, Spastic ... ORPHA:240094
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Ataxia, Dysmetria, Tremor, Steppage gait, Distal sensory impairment OMIM:618387
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Lethargy, Irritabilit... OMIM:233910
Tremor, Hereditary Essential, 4
Action tremor, Postural tremor OMIM:614782
Hsd10 Disease
Rigidity, Delayed speech and language development, Myoclonus, Choreoathetosis, Abnormal social be... ORPHA:391417
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, EEG abnormality, Inability to walk, Bilateral tonic-clonic seizure, Decreased nerv... ORPHA:457205
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Delayed speech and language development, Spastic tetraparesis, Tremor, Broad... OMIM:619470
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, EEG abnormality, Torticollis, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Gait disturbance, Ataxia, Impaired pain sensation, Tremor, Language impairment ORPHA:99014
Spinocerebellar Ataxia, Autosomal Recessive 13
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Inability to walk, Delayed speech and l... OMIM:614831
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
CNS hypomyelination OMIM:615760
Leukodystrophy, Hypomyelinating, 15
Leukodystrophy, CNS hypomyelination OMIM:617951
Developmental And Epileptic Encephalopathy 41
Myoclonic seizure, Generalized tonic seizure, EEG abnormality, Inability to walk, Hypsarrhythmia,... OMIM:617105
Spasticity, Childhood-Onset, With Hyperglycinemia
Leukodystrophy OMIM:616859
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Inability to walk, Fatiguable weakness of proximal limb muscles, Lim... ORPHA:90117
Parkinsonism With Polyneuropathy
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Anxiet... OMIM:619279
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Spastic ataxia, Abnormal pyramidal sign, Tip-... ORPHA:397946
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Babinski s... ORPHA:284324
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Onion... OMIM:607684
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Chorea, Anxiety, Resting tremor, Parkinsonism, Delayed speech and language development, Myoclonus... OMIM:619725
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Leukodystrophy, CNS hypomyelination OMIM:607694
Spinocerebellar Ataxia 7
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... OMIM:164500
X-Linked Dystonia-Parkinsonism
Chorea, Blepharospasm, Shuffling gait, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism wit... ORPHA:53351
Developmental And Epileptic Encephalopathy 47
EEG abnormality, Inability to walk, Focal-onset seizure, Hypsarrhythmia, Multifocal epileptiform ... OMIM:617166
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Delayed speech and language development, Clumsines... OMIM:619911
Multiple Mitochondrial Dysfunctions Syndrome 5
Leukodystrophy, Delayed myelination OMIM:617613
Glut1 Deficiency Syndrome 2
Choreoathetosis, Ataxia, Tremor, Irritability, Dystonia OMIM:612126
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:616172
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Self-injurious behavi... OMIM:618917
Hereditary Methemoglobinemia
Cerebral hypomyelination, Delayed myelination ORPHA:621
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Tremor, Gait disturbance, Ataxia ORPHA:101078
Peroxisome Biogenesis Disorder 11A (Zellweger)
CNS hypomyelination OMIM:614883
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
Huntington Disease
Neuronal loss in central nervous system, Cerebellar atrophy, Gliosis OMIM:143100
Intellectual Developmental Disorder, Autosomal Recessive 54
Delayed speech and language development, Exaggerated startle response, Emotional lability OMIM:617028
Hyperphenylalaninemia, Bh4-Deficient, A
Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Ataxia, Tremor, Hypertonia, Irritabilit... OMIM:261640
Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Cerebral hypomyelination OMIM:612438
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Progressive sensorineural h... OMIM:125250
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Fasciculations ORPHA:65684
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Poor fine motor coordination, Spasticity, Myoclonic spasms, Delayed speech and language d... ORPHA:79263
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Resting tremor, Abno... ORPHA:3077
Atypical Rett Syndrome
Gait ataxia, Spasticity, Limb myoclonus, Inability to walk, Impaired social interactions, Apraxia... ORPHA:3095
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Congenital Cataracts, Hearing Loss, And Neurodegeneration
CNS hypomyelination OMIM:614482
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
CNS hypomyelination OMIM:620023
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Cerebral hypomyelination, Demyelinating motor neuropathy OMIM:608804
Spinocerebellar Ataxia, Autosomal Recessive 21