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
decreased coping response Magtm1.1(KOMP)Vlcg HOM Early adult 2.00×10-05
decreased startle reflex Magtm1.1(KOMP)Vlcg HOM Early adult 5.41×10-06
convulsive seizures Magtm1.1(KOMP)Vlcg HOM Early adult 3.70×10-15
hypoactivity Magtm1.1(KOMP)Vlcg HOM   Early adult 8.06×10-05
abnormal auditory brainstem response Magtm1.1(KOMP)Vlcg HOM   Early adult 1.46×10-08
decreased leukocyte cell number Magtm1.1(KOMP)Vlcg HOM   Early adult 7.62×10-05
abnormal sleep behavior Magtm1.1(KOMP)Vlcg HOM Early adult 3.78×10-06

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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
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 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

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 Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Sleep Wake

Wake state (bmp file)

7 Images

Electroretinography 2

Rod and cone PDF

4 Images

Auditory Brain Stem Response

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

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, Dysmetria, Impaired vibratory sensation, Spasticity, Spastic paraplegia, Abnormal ... ORPHA:459056
Spastic Paraplegia 75, Autosomal Recessive
Dysmetria, Babinski sign, Spastic dysarthria, Spastic paraparesis 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
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Segmental peripheral d... 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, Demyelinating, Type 1F
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... OMIM:607734
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity OMIM:162600
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Diffuse axonal swelling, Amyotrophic lateral sclerosis, Axonal de... OMIM:602433
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:601068
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Gliosis, Axonal degeneration, Degeneratio... OMIM:604484
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Segmental peripheral demyelination, Segmental peripheral demyelination/remy... OMIM:606483
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:613608
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segm... OMIM:601098
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... OMIM:214400
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Demyelinating... ORPHA:208981
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination ORPHA:85163
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Myoclonus, Enhancement of the C-... OMIM:615127
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Mental Retardation, Autosomal Recessive 4
Delayed myelination OMIM:611107
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination ORPHA:88637
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Peripheral demyelination, CNS demyelination OMIM:165200
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia OMIM:616410
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy OMIM:182815
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decre... OMIM:608673
Continuous Spikes And Waves During Sleep
Dystonia, Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Foca... ORPHA:725
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral demyelination, Peripheral axonal neuropathy ORPHA:231445
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Peripheral demyelination, Basal lamina onion bulb form... OMIM:614895
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Peri... OMIM:118200
Roussy-Levy Hereditary Areflexic Dystasia
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... OMIM:180800
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Axonal regeneration, Decre... OMIM:605285
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination OMIM:162500
Mental Retardation, Autosomal Recessive 60
Delayed myelination OMIM:617432
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Tremor, Atax... OMIM:617831
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Distal sensory impairment, Limb ataxia, Gait ataxia OMIM:617018
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Myoclonus, Falls, EEG with focal sharp slow ... ORPHA:2382
Charcot-Marie-Tooth Disease, Type 4J
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal loss, Decreased nerve con... OMIM:611228
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... ORPHA:98856
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Peripheral demyelination, Decreased number of large peripheral myelinated n... OMIM:608340
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Myel... OMIM:118220
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-induced seizure, Focal... OMIM:614417
Null Syndrome
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, CNS hypomyelination... ORPHA:280234
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation OMIM:618279
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Peripheral demyelination, Decreased nerve conduction velocity, Abnormal n... ORPHA:2932
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Caudate atrophy, Peripheral demyelination, Gliosis, Cerebral atrophy, Abnormal upper... OMIM:221770
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology, Decreased mo... OMIM:605253
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia Type 31
Tremor, Impaired vibratory sensation, Gait ataxia, Spasticity ORPHA:217012
Landau-Kleffner Syndrome
Focal impaired awareness seizure, Seizure, Continuous spike and waves during slow sleep, Interict... ORPHA:98818
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, A... OMIM:614436
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Parkinsonism, Gait disturbance, Violent behavior, Rigidity, Frequent falls, Chorea, O... ORPHA:216873
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfuncti... ORPHA:401901
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Seizure, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Developmental And Epileptic Encephalopathy 39
Cerebral hypomyelination OMIM:612949
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:605588
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Cavitating leukodystrophy OMIM:619061
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Bilateral tonic-clonic seizure, Interictal epileptiform activity, Aggressive behavior, ... OMIM:619157
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Axonal loss, Motor conduction block, Symmetric periphe... ORPHA:206594
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... OMIM:615369
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Cerebellar atrophy, Neurodegeneration, Peripheral demyelination, Cerebral atrophy, C... OMIM:617672
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure OMIM:611364
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Inability to walk, Aggressive behavior, Bilateral tonic... OMIM:619639
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Acute demyelinating polyneuropathy ORPHA:98916
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... ORPHA:464440
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, EEG with centrotemporal focal s... OMIM:245570
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired ... OMIM:618587
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Dystonia 11, Myoclonic
Writer's cramp, Agoraphobia, Torticollis, Myoclonus, Tremor, Anxiety OMIM:159900
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ag... ORPHA:86909
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus, Atonic seizure, Focal-on... OMIM:300088
Autosomal Dominant Epilepsy With Auditory Features
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Inter... ORPHA:101046
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Falls, Chin myoclonus, G... ORPHA:139426
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Aggressive behavior, Bilateral tonic-clonic seizure OMIM:603204
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination OMIM:311070
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Anxiety, Attention deficit hyperact... OMIM:619191
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Axonal de... OMIM:608720
Migraine, Familial Hemiplegic, 1
Hemiparesis, Tremor, Ataxia, Hemiplegia, Anxiety OMIM:141500
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Dystonia, Myoclonus, Involuntary movements OMIM:611092
Hypertrophic Neuropathy Of Dejerine-Sottas
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... OMIM:145900
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... ORPHA:251282
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ag... ORPHA:101039
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Peripheral axonal neuropathy, Decreased motor nerve conduction velocity OMIM:610100
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Normal interictal EEG, Limb myoclonus, Bilateral tonic-clonic seizure... ORPHA:306
Charcot-Marie-Tooth Disease, Type 4K
Peripheral demyelination, Axonal loss OMIM:616684
Leukoencephalopathy with metaphyseal chondrodysplasia
Tremor, Babinski sign, Gait disturbance, Spastic paraplegia OMIM:300660
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Emotional... OMIM:615362
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Decreased nerve conduction velocity ORPHA:99944
Periventricular Nodular Heterotopia 8
Delayed myelination OMIM:618185
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... ORPHA:36387
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bilateral tonic-clonic seizure, Bradykinesia, Tremor, Ataxia, EEG abnormality, Generali... OMIM:617836
Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications
Delayed CNS myelination OMIM:618875
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... OMIM:607706
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Cerebral hypomyelination, CNS hypomyelination OMIM:601170
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Interictal epileptiform ... OMIM:254800
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Peripheral demyelination, Decreased number of small ... ORPHA:101097
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Irritability, Focal impaired awareness seizure, EEG abnormality, Bilateral tonic-clonic seizure OMIM:610003
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Peripheral hypomyelination, Decreased number of peripheral myelinated nerve... OMIM:609311
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Peripheral demyelinati... OMIM:604168
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Axonal degenerati... OMIM:609260
Dystonia 27
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor OMIM:616411
Huntington Disease-Like 2
Dystonia, Rigidity, Chorea, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety OMIM:606438
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration OMIM:616155
Pelizaeus-Merzbacher Disease
Optic atrophy, Sudanophilic leukodystrophy, Abnormal CNS myelination, Reduction of oligodendrogli... OMIM:312080
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:618873
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, EEG with photoparoxysmal respons... OMIM:607876
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... ORPHA:101110
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Onion bulb formation, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, ... OMIM:302800
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:600882
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral hypomyelination, CNS hypomyelination OMIM:300475
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Motor conduction block, ... ORPHA:99953
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-moto... OMIM:254770
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... OMIM:615490
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Spinocerebellar Ataxia Type 37
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... ORPHA:363710
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations OMIM:615048
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Aggressive behavior, Myoclonus, Seizure, Eyelid myoclonus, Genera... OMIM:618357
Developmental And Epileptic Encephalopathy 86
CNS hypomyelination OMIM:618910
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... OMIM:604563
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmi... OMIM:616056
Paralysis Agitans, Juvenile, Of Hunt
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination OMIM:249900
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
Glutathionuria
Tremor OMIM:231950
Krabbe Disease
Optic atrophy, CNS demyelination, Neurodegeneration, Peripheral demyelination, Decreased nerve co... OMIM:245200
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Decreased nerve conduction velocity, Segmental peripheral demy... OMIM:601455
Developmental And Epileptic Encephalopathy 14
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy, Delayed myelination OMIM:614959
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... OMIM:607317
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Spinocerebellar Ataxia Type 43
Cerebellar vermis atrophy, Peripheral axonal neuropathy, Decreased number of large peripheral mye... ORPHA:497764
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Apathy, Bradykinesia, Shuffling gait, Falls, Resting tremor, Short stepped shuffling ga... ORPHA:306692
Pyridoxine-Dependent Epilepsy
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Hypsarrhythmia, EEG... ORPHA:3006
Multiple Mitochondrial Dysfunctions Syndrome 4
Leukodystrophy OMIM:616370
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Spinocerebellar Ataxia 12
Parkinsonism, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Actio... OMIM:604326
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Ataxia, Loss of ability to walk, Unsteady gait OMIM:617917
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Parkinsonism With Spasticity, X-Linked
Babinski sign, Bradykinesia, Cogwheel rigidity, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Myoclonus, Tremor, Hypertonia, Irritability OMIM:261630
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Intellectual Developmental Disorder With Seizures And Language Delay
Increased theta frequency activity in EEG, Bilateral tonic-clonic seizure, EEG with spike-wave co... OMIM:619000
Dravet Syndrome
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... OMIM:607208
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Gait disturbance, Tremor by anatomical site, Bradykinesia, Intenti... ORPHA:98762
Episodic Ataxia, Type 9
Dystonia, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepti... OMIM:618924
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with centrotemporal foc... OMIM:117100
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
CNS hypomyelination, Delayed myelination OMIM:616158
Seizures, Benign Familial Neonatal, Autosomal Recessive
Normal interictal EEG, Bilateral tonic-clonic seizure OMIM:269720
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, N... ORPHA:98820
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Abnormal pyramidal ... OMIM:615924
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy OMIM:616763
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Neuromyelitis Optica Spectrum Disorder
Neuronal loss in central nervous system, Peripheral demyelination ORPHA:71211
Jeavons Syndrome
Febrile seizure (within the age range of 3 months to 6 years), EEG with focal epileptiform discha... ORPHA:139431
Unilateral Focal Polymicrogyria
EEG with temporal focal spikes, Abnormality of somatosensory evoked potentials, EEG with occipita... ORPHA:268947
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... OMIM:615528
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia ORPHA:228169
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady gait, Limb ataxia OMIM:615768
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Dystonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tremor... ORPHA:330050
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Dysmetria, Unsteady gait, Truncal ataxia OMIM:616127
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... OMIM:600669
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Aggressive behavior, Falls, Bradykinesia, Spastic tetraplegia, Dista... OMIM:617225
Congenital Cataracts, Hearing Loss, And Neurodegeneration
CNS hypomyelination OMIM:614482
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, Parkinsonis... ORPHA:71517
Leukodystrophy, Hypomyelinating, 13
Leukodystrophy, Delayed myelination OMIM:616881
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy OMIM:615035
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia, Irritability OMIM:612126
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Rare Non-Syndromic Intellectual Disability
Dystonia, Bilateral tonic-clonic seizure, Hearing impairment, Seizure, Emotional lability, Diffic... ORPHA:101685
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, CNS demyelination, Abnormal oligodendroglia morphology ORPHA:217260
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Aggressive behavior, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity... OMIM:612716
Spinocerebellar Ataxia 23
Babinski sign, Dysmetria, Tremor, Impaired vibration sensation in the lower limbs, Limb ataxia, G... OMIM:610245
Rasmussen Subacute Encephalitis
EEG with focal epileptiform discharges, Interictal epileptiform activity, Focal impaired awarenes... ORPHA:1929
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... OMIM:270500
Spinocerebellar Ataxia 48
Parkinsonism, Babinski sign, Dystonia, Dysmetria, Chorea, Tremor, Ataxia, Irritability, Anxiety, ... OMIM:618093
Microcephaly 10, Primary, Autosomal Recessive
CNS hypomyelination, Delayed myelination OMIM:615095
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
CNS hypomyelination, Leukodystrophy, Abnormal upper motor neuron morphology OMIM:607694
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607831
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... ORPHA:79262
Alexander Disease
Diffuse demyelination of the cerebral white matter OMIM:203450
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear/anxiety-related behavior, Bilateral tonic-clonic seizure, Suicidal ideation, Aggres... ORPHA:208441
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Poor eye contact, Tremor, Ataxia, Hyperactivity, Spasticity OMIM:300983
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Dystonia 23
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Lichtenstein-Knorr Syndrome
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Self-injurious behavior, Aggressive behavior, Seizure, Hyperactiv... OMIM:271980
Dopa-Responsive Dystonia
Irritability, Panic attack, Abnormal social behavior, Anxiety, Oculogyric crisis, Lethargy, Gait ... ORPHA:255
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Aggressive behavior, Bradykinesia, Tremor, Apraxia, Spasticity, P... OMIM:612953
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... ORPHA:314978
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Axonal degeneration, Decreased nerve conduction velocity OMIM:618138
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Leukodystrophy, Hypomyelinating, 6
Cerebral hypomyelination, Leukodystrophy OMIM:612438
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism, Anxiety OMIM:605909
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Axonal degeneration, Decreased number of larg... OMIM:208920
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination OMIM:258650
Hypermanganesemia With Dystonia 2
Babinski sign, Gait disturbance, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... OMIM:617013
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Neurodegeneration, Cerebellar atrophy, Axonal degeneration, Cerebral atrophy OMIM:615157
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Spinocerebellar Ataxia Type 28
Babinski sign, Dystonia, Kinetic tremor, Rigidity, Spasticity, Head tremor, Parkinsonism, Limb at... ORPHA:101109
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Peripheral demyelination, Gliosis, CNS demyelination OMIM:220111
Developmental And Epileptic Encephalopathy 79
CNS hypomyelination OMIM:618559
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... OMIM:607681
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral hypomyelination, CNS hypomyelination ORPHA:369939
Urocanase Deficiency
Tremor, Ataxia, Aggressive behavior OMIM:276880
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Delayed myelination OMIM:618339
Spinocerebellar Ataxia 18
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Somatic sen... ORPHA:98763
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), EEG with centrotemporal focal spik... ORPHA:1945
Developmental And Epileptic Encephalopathy 5
CNS hypomyelination OMIM:613477
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Impaired vibration sensation ... OMIM:600363
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... OMIM:604403
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Rigidity, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Hypertonia, Irritability, Park... OMIM:261640
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Intention tremor OMIM:302500
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Bilateral tonic-clonic seizure, Self-injurious behavior, Aggressive behavior... ORPHA:382
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... OMIM:607631
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Dystonia 16
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... ORPHA:210571
Behr Syndrome
Progressive spasticity, Babinski sign, Gait disturbance, Dysmetria, Tremor, Ataxia OMIM:210000
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
CNS hypomyelination, Leukodystrophy ORPHA:527497
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Atypical Rett Syndrome
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Impaired pain sensation, Tongu... ORPHA:3095
Cortical Malformations, Occipital
EEG abnormality, Bilateral tonic-clonic seizure OMIM:614115
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 month... ORPHA:263516
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
CNS hypomyelination, Delayed myelination OMIM:618367
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Corpus callosum atrophy, Gliosis, Leukodystrophy, Symmetric peripheral demyelination OMIM:169500
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Tremor, Inability to... OMIM:617810
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Bilateral tonic-clonic seizure, Myoclonus, Hearing impairment, Multifocal epilepti... OMIM:609056
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy OMIM:608703
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... ORPHA:240103
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Motor Neuropathy, Peripheral, With Dysautonomia
Peripheral demyelination, Decreased nerve conduction velocity OMIM:252320
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ataxia OMIM:213200
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Morning myoclonic jer... OMIM:607682
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:1941
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Dystonia, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... ORPHA:521406
Developmental And Epileptic Encephalopathy 78
CNS hypomyelination OMIM:618557
Spinocerebellar Ataxia Type 27
Gait disturbance, Hand tremor, Aggressive behavior, Tremor, Truncal ataxia, Akinesia, Limb ataxia... ORPHA:98764
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus, Bilateral tonic-clonic seizure, Splenomegaly ORPHA:139406
Developmental And Epileptic Encephalopathy 6B
Dystonia, Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Bilat... OMIM:619317
Late-Infantile/Juvenile Krabbe Disease
Gait disturbance, Febrile seizure (within the age range of 3 months to 6 years), Loss of ambulati... ORPHA:206443
Galloway-Mowat Syndrome 5
Peripheral demyelination, Brain atrophy OMIM:617731
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Axonal degeneration, Decreased nerve conduction velocity, Degener... OMIM:604320
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure OMIM:616341
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait OMIM:619470
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Fasciculations, Tremor, Inability to walk, Tongue fasciculations, Impaired dist... ORPHA:276435
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Rigidity, Aggressive behavior, Abnormality of extrapyramidal motor function, Bradykines... OMIM:300894
Unilateral Hemispheric Polymicrogyria
Focal atonic seizure, EEG with focal epileptiform discharges, Infantile spasms, Bilateral tonic-c... ORPHA:101071
Leukodystrophy, Hypomyelinating, 22
CNS hypomyelination OMIM:619328
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Leukodystrophy OMIM:619224
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Multiple Mitochondrial Dysfunctions Syndrome 5
Leukodystrophy, Delayed myelination OMIM:617613
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Peripheral demyelination OMIM:618237
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Steppage gait, Tremor, Ataxia, Distal sensory impairment, Gait ataxia OMIM:618387
Late Infantile Neuronal Ceroid Lipofuscinosis
Seizure, Focal-onset seizure, Anxiety, EEG with spike-wave complexes, EEG with generalized slow a... ORPHA:168491
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Lower limb spasticit... ORPHA:3077
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination OMIM:200100
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
CNS hypomyelination OMIM:615281
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Kaya-Barakat-Masson Syndrome
CNS hypomyelination OMIM:619125
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... ORPHA:101150
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
CNS hypomyelination OMIM:615760
Primary Dystonia, Dyt2 Type
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... ORPHA:99657
Developmental And Epileptic Encephalopathy 93
CNS hypomyelination OMIM:618012
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased nerve conduction velocity ORPHA:101082
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Rigidity, Apathy, Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to ... ORPHA:240085
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Bilateral tonic... OMIM:609446
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Global brain atrophy, Diffuse cerebellar atrophy, Neurodegeneration, Axonal deg... ORPHA:478029
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration OMIM:618811
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizur... OMIM:619301
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Optic neuropathy, Cerebellar atrophy, Global brain atrophy, Axonal degeneration, D... OMIM:616811
Neurodegeneration With Brain Iron Accumulation 3
Babinski sign, Dystonia, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Bradykinesia, Larynge... OMIM:606159
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Dystonia, Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Abn... ORPHA:457205
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... ORPHA:391411
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Bilateral tonic-clonic seizure, Abulia, Aggressive behavior, Apathy, Emotional ... ORPHA:275864
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Gliosis, Cerebral atrophy OMIM:618369
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Absent brainstem auditory responses, Seizure, Sensorineural hearing impairment, EEG... OMIM:617519
Leukoencephalopathy With Vanishing White Matter
Cerebral hypomyelination, CNS demyelination OMIM:603896
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Neuronal loss in central nervous system, Gliosis, Amyotrophic lateral sclerosis, Abnormal lower m... OMIM:105550
Leukodystrophy, Hypomyelinating, 2
Cerebral hypomyelination, Leukodystrophy, Demyelinating motor neuropathy OMIM:608804
Mohr-Tranebjaerg Syndrome
Optic atrophy, Dystonia, Abnormality of somatosensory evoked potentials, Oromandibular dystonia, ... ORPHA:52368
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Fatiguable weakness of proximal limb muscles, Limb fasciculations, Tremor, Distal sensory impairm... ORPHA:90117
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Neuronal loss in central nervous system, Gliosis, CNS demyelination OMIM:221820
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Paroxysmal dystonia, Myoclonus, Writer's cramp OMIM:608105
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus, Difficulty walking OMIM:614018
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Kufor-Rakeb Syndrome
Babinski sign, Gait disturbance, Dystonia, Rigidity, Torticollis, Aggressive behavior, Myoclonus,... OMIM:606693
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Irritability, Hyperkinetic movement... OMIM:233910
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizur... OMIM:619302
Intellectual Developmental Disorder, X-Linked 1
Seizure, Aggressive behavior, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Brain atrophy, Decreased nerve conduction velocity OMIM:615284
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Babinski sign, Gait disturbance, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Slurred spe... OMIM:300423
Spasticity, Childhood-Onset, With Hyperglycinemia
Leukodystrophy OMIM:616859
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Babinski sign, Clumsiness, Dysmetria, Progressive gait ataxia, Oculomotor apraxi... ORPHA:284324
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Lower limb spasticity, Exaggerated startle response, Fasciculations, Spastic tetra... OMIM:618598
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Aicardi-Goutieres Syndrome 6
Tremor, Dystonia, Loss of ability to walk, Rigidity OMIM:615010
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609253
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, Ataxia OMIM:619028
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Leukodystrophy OMIM:619196
Familial Infantile Myoclonic Epilepsy
Gait disturbance, EEG with focal spike waves, Simple febrile seizure, Limb myoclonus, Bilateral t... ORPHA:352582
New-Onset Refractory Status Epilepticus
EEG with temporal epileptiform discharges, Seizure precipitated by febrile infection, Bilateral t... ORPHA:363558
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Athetosis, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dystonia, Limb hypertonia, Chorea, Resting tremor, Anxiety OMIM:606703
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Ataxia, Progressive sensori... OMIM:125250
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait ataxia OMIM:616719
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Parkinsonism With Polyneuropathy
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:619279
Hsd10 Disease
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Abnormal social behavior,... ORPHA:391417
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadochokinesis, Abnormal p... OMIM:617145
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyramidal sign OMIM:614947
Monomelic Amyotrophy
Tremor, Fasciculations, Degeneration of anterior horn cells ORPHA:65684
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Axonal loss OMIM:614455
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:616172
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
CNS hypomyelination OMIM:616577
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Peroxisome Biogenesis Disorder 11A (Zellweger)
CNS hypomyelination OMIM:614883
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Spinocerebellar Ataxia 7
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... OMIM:164500
X-Linked Dystonia-Parkinsonism
Frequent falls, Hand tremor, Chorea, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... ORPHA:53351
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign OMIM:612016
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:613863
Urocanic Aciduria
Ataxia, Truncal ataxia, Broad-based gait, Action tremor, Gait ataxia ORPHA:210128
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Fasciculations, Intention ... ORPHA:397946
Leukodystrophy, Hypomyelinating, 10
CNS hypomyelination, Leukodystrophy OMIM:616420
Huntington Disease
Neuronal loss in central nervous system, Cerebellar atrophy, Gliosis OMIM:143100
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral... OMIM:618917
Autosomal Dominant Non-Syndromic Intellectual Disability