Gene Summary

Name:
microrchidia 2A
Synonyms:
Zcwcc1,  8430403M08Rik

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
preweaning lethality, complete penetrance Morc2atm1b(KOMP)Wtsi HOM   Early adult 0.00
preweaning lethality, complete penetrance Morc2aem1(IMPC)Wtsi HOM   Early adult 0.00
decreased circulating HDL cholesterol level Morc2aem1(IMPC)Wtsi HET Early adult 3.29×10-05
abnormal gait Morc2atm1b(KOMP)Wtsi HET Early adult 1.26×10-05
prenatal lethality prior to heart atrial septation Morc2atm1b(KOMP)Wtsi HOM   E15.5 0.00

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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem 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)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus 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 0.0% (0 of 2)
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)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
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)
Spinal cord 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)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 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)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

3 Images

Legacy Phenotype Associated Images

View all 15 images

Human diseases caused by Morc2a 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 Morc2a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Ataxia, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sens... OMIM:616688
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Difficulty walking, Spina... ORPHA:466768
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Spasticity, Cerebellar atrophy, Cerebral atrophy, Babinski sign, Delayed CNS myelination, Waddlin... OMIM:619090

The table below shows human diseases predicted to be associated to Morc2a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased nerve conduction velocity... OMIM:601098
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Distal amyotrophy, Leg muscle stiffness, Somatic sensory dysfunction,... ORPHA:101010
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Difficulty walking, Distal sensory impairment, Paraparesis, Tip-toe gait, Hand tr... OMIM:302800
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance ORPHA:256
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Distal amyotrophy, Spastic paraparesis, Somatic sensory ... ORPHA:101077
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Calf muscle hypoplasia, Decreased amplitude of sensory action potentials, Decreased nerve conduct... ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Mental deterioration, Spasticity, Distal amyotrophy, Optic atrophy, Decreased motor nerve conduct... OMIM:609260
Spinocerebellar Ataxia 43
Distal amyotrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment... OMIM:617018
Roussy-Lévy Syndrome
Impaired vibratory sensation, Distal amyotrophy, Skeletal muscle atrophy, Impaired pain sensation... ORPHA:3115
Leukodystrophy, Hypomyelinating, 18
Spasticity, Cerebellar atrophy, Decreased nerve conduction velocity, Abnormal motor nerve conduct... OMIM:618404
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Difficulty walking, Distal lower limb amyotrophy, Decreased compound muscle action potential ampl... OMIM:619112
X-Linked Charcot-Marie-Tooth Disease Type 6
Lower limb muscle weakness, Hand tremor, Difficulty walking, Decreased nerve conduction velocity,... ORPHA:352675
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Delayed CNS my... OMIM:619742
Null Syndrome
Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Difficulty walking, Inability... ORPHA:280234
Charcot-Marie-Tooth Disease, Type 4H
Small hypothenar eminence, Decreased motor nerve conduction velocity, Upper limb muscle weakness,... OMIM:609311
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Proximal muscle weakness in lower limbs, Broad-based gait, Difficulty walking, Impaired vibration... ORPHA:435387
Hereditary Motor And Sensory Neuropathy V
Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Difficulty walking, Lim... OMIM:600361
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Hand mu... OMIM:608323
Autosomal Recessive Spastic Paraplegia Type 21
Mental deterioration, Spasticity, Frontotemporal cerebral atrophy, Lower limb muscle weakness, Di... ORPHA:101001
Autosomal Recessive Spastic Paraplegia Type 57
Spastic paraplegia, Spasticity, Optic atrophy, Inability to walk, Distal lower limb amyotrophy, A... ORPHA:431329
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy, Somatic sensory dysfunction, Amyotrophic lateral sclerosis, Decreased ne... OMIM:612577
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Distal sensory impairment, Demyelinating perip... ORPHA:99948
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Demyelinating sensory neuropathy, Head tremor, Positive ... ORPHA:101085
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Distal amyotrophy, Skeletal muscle atrophy, Decreased motor... OMIM:614895
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Spontaneous pain sensation, Somatic sensory dysfunction, Fall... ORPHA:2932
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Impaired vibratory sensation, Distal amyotrophy, Cerebellar atrophy, Decreased motor nerv... OMIM:607250
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, P... ORPHA:101081
Spastic Paraplegia 57, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Somatic sensory dysfunction, Hand muscle atrophy, Loss of ambu... OMIM:615658
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Distal amyotrophy, Decreased motor nerve conduction velocity, Impaired pain sens... OMIM:607684
Spinocerebellar Ataxia Type 43
Distal amyotrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Foot dorsiflexor weakness... ORPHA:497764
Charcot-Marie-Tooth Disease, Type 4J
Ankle flexion contracture, Decreased motor nerve conduction velocity, Decreased nerve conduction ... OMIM:611228
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Distal amyotrophy, Upper limb muscle weakness, Decreased nerve conduction velocity, Foot dorsifle... OMIM:302802
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Skeletal muscle atrophy, Fasciculations, Decreased nerve conduction velocity, Rigidit... OMIM:183050
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Tip-toe gait, Inability to w... ORPHA:482601
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop... OMIM:607706
Subacute Inflammatory Demyelinating Polyneuropathy
Difficulty walking, Peripheral demyelination, Positive Romberg sign, Distal sensory impairment, C... ORPHA:206594
Spastic Paraplegia 38, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Lower limb muscle weakness, Impaired vibration sensation i... OMIM:612335
Spastic Paraplegia 17, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Decreased motor nerve conduction velocity, Lower limb musc... OMIM:270685
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Cognitive im... OMIM:615157
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Decreased nerve conduct... OMIM:612674
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Distal amyotrophy, Demyelinating sensory neuropathy, Upper limb muscle weakness, Somatic sensory ... ORPHA:99939
Spastic Paraplegia 32, Autosomal Recessive
Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness, Cerebral atrophy, Difficulty ... OMIM:611252
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Skeletal muscle atrophy, Tremor, Babinski sign, Cognitive impairment, Ataxia, Flexion... OMIM:611105
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Low... ORPHA:401820
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do... OMIM:302801
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Ga... ORPHA:101078
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakne... ORPHA:139536
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Tetraparesis, Cerebral atrophy, Abnormal ... OMIM:105550
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturba... ORPHA:99014
Miyoshi Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Tip-toe gait, Shoulder girdl... ORPHA:45448
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Skeletal muscle atrophy, Tip-toe gait, Fasciculations, Difficulty walking, Abnormal c... OMIM:615681
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Fasciculations, Difficulty... OMIM:615575
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Tip-toe gait, Difficulty walking, Abnormal cerebellum morphology, Knee f... ORPHA:401785
Amyotrophic Lateral Sclerosis Type 4
Spastic paraplegia, Skeletal muscle atrophy, Somatic sensory dysfunction, Babinski sign, Gait dis... ORPHA:357043
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Spasticity, Increased endomysial connective tissue, Decr... OMIM:620068
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Mental deterioration, Cerebellar atrophy, EEG with generalized polyspikes, Ataxia OMIM:614706
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Decreased motor nerve conduction velocity, Steppage gait, Impaired distal tact... OMIM:610100
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Ankle flexion contracture, Distal amyotrophy, Spasticity, Spastic p... ORPHA:320370
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Distal amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal... OMIM:615376
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Distal lower limb amyotrophy, Distal... ORPHA:101075
Epilepsy, Progressive Myoclonic 7
Mental deterioration, EEG with generalized epileptiform discharges, Cerebellar atrophy, Myoclonus... OMIM:616187
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Distal amyotrophy, Decreased motor nerve conduction velocity, Gait at... OMIM:180800
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Spasticity, Distal amyotrophy, Spastic paraplegia, Optic atrophy, Knee... OMIM:615043
Epilepsy, Progressive Myoclonic, 8
Progressive neurologic deterioration, Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, M... OMIM:616230
Spastic Paraplegia 73, Autosomal Dominant
Spastic paraplegia, Skeletal muscle atrophy, Difficulty walking, Prolonged central motor conducti... OMIM:616282
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Fasciculations, Distal lower limb amyotrophy, Claw han... OMIM:606595
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsifle... OMIM:118210
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraparesis, Foot dorsi... ORPHA:496756
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe... OMIM:615268
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... ORPHA:171622
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Difficulty walking, Cerebellar vermis atrophy, Limb ataxia, Cognitive impairment, Truncal ataxia,... ORPHA:363432
Spastic Ataxia, Charlevoix-Saguenay Type
Spasticity, Progressive truncal ataxia, Impaired vibration sensation in the lower limbs, Distal s... OMIM:270550
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Distal amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Foot dorsiflex... OMIM:605726
Autosomal Dominant Spastic Paraplegia Type 4
Spasticity, Distal amyotrophy, Leg muscle stiffness, Lower limb muscle weakness, Ankle clonus, Ba... ORPHA:100985
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper... ORPHA:275872
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Decreased nerve ... OMIM:615284
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Aplasia/... ORPHA:1188
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Cerebellar atrophy, Limb muscle weakness, Dysmetria, Tremor, Progressive... OMIM:607458
Charcot-Marie-Tooth Disease Type 2B1
Proximal muscle weakness in lower limbs, Distal sensory impairment, Hand muscle atrophy, Proximal... ORPHA:98856
Spastic Paraplegia 63, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Babinski sign, Scissor gait, Gait disturbance, Clonu... OMIM:615686
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal amyotrophy, Cerebellar atrophy, Demyelinating sensory neuropathy, Gait ataxia, Limb muscle... OMIM:618387
Spinocerebellar Ataxia Type 1
Cognitive impairment, Bradykinesia, Progressive cerebellar ataxia, Slurred speech, Memory impairm... ORPHA:98755
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Spasticity, Abnormal motor evoked potentials, Difficulty walking, Impaired tactile sensation, Abn... ORPHA:98
Neuropathy, Congenital Hypomyelinating, 2
Distal amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Inability ... OMIM:618184
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal amyotrophy, Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, ... OMIM:607734
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Lower limb muscle weakness, Cerebral... OMIM:248900
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Late-Infantile/Juvenile Krabbe Disease
Mental deterioration, Spastic paraparesis, Difficulty walking, Impaired tactile sensation, Loss o... ORPHA:206443
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclon... OMIM:619862
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, ... OMIM:600143
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor ORPHA:217012
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Skeletal muscle atrophy, Decreased nerve conduction velocity, Peripheral demyelination, Distal se... ORPHA:99944
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Giant somatosensory evoked potentials, Myoclonu... OMIM:618876
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Difficulty walking, Thenar muscle atrophy, Decreased motor nerve conduction velocity, Distal sens... OMIM:620111
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo... ORPHA:98762
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal amyotrophy, Distal lower limb amyotrophy, Distal upper limb amyotrophy, Foot dorsiflexor w... OMIM:619519
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Somatic sensory dysfunction, Difficulty walking, Distal lower limb muscl... OMIM:615025
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Difficulty walking, Distal lower limb amyotrophy, Claw... OMIM:605285
Spastic Ataxia 2, Autosomal Recessive
Mental deterioration, Spasticity, Distal amyotrophy, Cerebellar atrophy, Cerebral atrophy, Fascic... OMIM:611302
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness, Dysmetria, Ankle clonus, Babi... OMIM:610357
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Difficulty walking, Abnormal motor nerve conduction veloci... OMIM:158580
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Cerebral atrophy, Inability to walk, Lower limb spasticity, Delayed CNS myeli... OMIM:618468
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiplegia, Confusion, Tremor, Hemiparesis, Ataxia OMIM:141500
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Distal amyotrophy, Decreased motor nerve conduction velocity, Impai... ORPHA:99953
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Ataxia, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sens... OMIM:616688
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Distal amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Fascic... OMIM:600882
Spinocerebellar Ataxia 14
Mental deterioration, Memory impairment, Cerebellar atrophy, Gait ataxia, Facial myokymia, Dysmet... OMIM:605361
Autosomal Dominant Spastic Paraplegia Type 17
Distal amyotrophy, Abnormality of the foot musculature, Hand muscle weakness, Postural tremor, Ab... ORPHA:100998
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Mental deterioration, Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia,... OMIM:249900
Spinocerebellar Ataxia 12
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Facial myokymia, Dysme... OMIM:604326
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Somatic sensory dysfun... OMIM:158600
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Impaired vibratory sensation, Proximal muscle weakness in lower limbs, Decreased motor nerve cond... OMIM:618912
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Distal amyotrophy, Impaired pain sensation, Hand tremor, Difficulty walking, Peripheral demyelina... OMIM:618279
Intellectual Developmental Disorder, Autosomal Dominant 56
Ataxia, Broad-based gait, Spasticity, Inability to walk, Myoclonus, Short attention span, Pontoce... OMIM:617854
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Ab... OMIM:256731
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Distal amyotrophy, Compound muscle action potential amplitude facilitation, Decreased compound mu... OMIM:616040
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxi... OMIM:614322
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Spastic Paraplegia 2, X-Linked
Spastic paraplegia, Optic atrophy, Skeletal muscle atrophy, Spinocerebellar tract degeneration, L... OMIM:312920
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Imp... ORPHA:139578
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Distal amyotrophy, Cerebellar atrophy, Lower limb muscle weakness, Fasciculations, Ga... OMIM:607317
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Global brain atrophy, Skeletal muscle atrophy, Hypoplasia of t... OMIM:618276
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Lower limb spasticity, Hypertonia, At... OMIM:613925
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia OMIM:611694
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... DECIPHER:29
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Distal amyotrophy, Spastic paraparesis, Cerebellar atrophy, Lower limb muscle weaknes... OMIM:614487
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy OMIM:605388
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Cerebral cortical atrophy, Cerebellar atrophy, Confusion, Myoclonus, Gait a... OMIM:615362
X-Linked Progressive Cerebellar Ataxia
Spinocerebellar tract degeneration, Cerebellar vermis atrophy, Limb ataxia, Distal lower limb amy... ORPHA:1175
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Simplified gyral pattern, Skeletal muscle atrophy, Ataxia OMIM:613402
Cerebellar Ataxia, Cayman Type
Ataxia, Broad-based gait, Skeletal muscle atrophy, Cerebellar atrophy, Gait ataxia, Dystonia, Cer... OMIM:601238
Spinocerebellar Ataxia 1
Spasticity, Cognitive impairment, Optic disc pallor, Progressive cerebellar ataxia, Impaired vibr... OMIM:164400
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Distal amyotrophy, Hand muscle weakness, Difficulty walking, Foot dorsiflexor weakness, Hand musc... OMIM:616280
Spastic Paraplegia 31, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Dista... OMIM:610250
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... OMIM:615768
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do... OMIM:607678
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do... OMIM:605588
Charcot-Marie-Tooth Disease, Type 4B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials... OMIM:601382
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Distal amyotrophy, Spastic paraparesis, Cerebellar atrophy, Lower limb muscle weaknes... ORPHA:313772
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Progressive spasticity, Spastic paraparesis, Decreased motor nerve conduction velo... OMIM:608804
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Flexion contracture of toe, Optic atrophy, EEG with generalized epileptiform discharges, Cerebell... OMIM:619323
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Mental deterioration, Falls, Resting tremor, Ce... OMIM:617225
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal amyotrophy, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Nescav Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Cerebellar ve... OMIM:614255
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased amplitude of se... ORPHA:99950
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Impaired pain sensation, Gait ataxia, Distal sensory impairment, Faci... ORPHA:101111
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Lower limb muscle weakness, D... OMIM:613287
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Decreased nerve conduction velocity, Central nervous system degeneration... ORPHA:868
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Spasticity, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ... ORPHA:284332
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Distal sensory impairment, Spinal muscul... OMIM:614881
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Mental deterioration, Difficulty walking, Impaired vibration sensation in the lower limbs, Loss o... ORPHA:137898
Spastic Paraplegia 55, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Lower limb muscle weakness, Difficulty walking, Tibialis anter... OMIM:615035
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Foot dorsiflexor weakness, Spin... OMIM:617207
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, Decreased motor n... OMIM:610532
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Peroneal muscle atrophy, Thenar muscle atrophy, Peroneal muscle weakness, Decreased motor nerve c... OMIM:614751
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Abnormal cortical gyration, Spinal cord posterior columns myelin loss,... ORPHA:98756
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, EEG... OMIM:610951
Monomelic Amyotrophy
Fasciculations, Distal upper limb amyotrophy, Abnormality of peripheral nerve conduction, Tremor,... ORPHA:65684
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617769
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Hand muscle weakness, Hand paresthesia, ... OMIM:162500
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Shuffling gait, Generalized limb muscle atrophy, Scapular winging, Proximal lower limb amyotrophy... ORPHA:219
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraplegia, Difficulty ... ORPHA:468661
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait, ... ORPHA:401840
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Spasticity, Spastic paraparesis, Cerebellar atrophy, Distal lower limb amyotrophy,... OMIM:616680
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Clumsiness, EEG abnormality, Increase... OMIM:610003
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... OMIM:619279
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617133
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Decreased nerve conduction velocity, Impaired vibration sensation in the lowe... OMIM:159550
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction
Spasticity, Cerebellar atrophy, Cerebral atrophy, Spastic tetraparesis, Gait disturbance, Dystonia OMIM:620515
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb muscle weakness, Limb ataxia, Gait ataxia, Ankle clonus, Babi... ORPHA:488594
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Decreased motor... OMIM:616687
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Spastic paraplegia, Cerebral corti... OMIM:238970
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Cognitive impairment, Motor deterioration, Ataxia, Unsteady gait, Poor fine motor coo... ORPHA:79263
Spinocerebellar Ataxia Type 5
Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech ORPHA:98766
Spastic Paraplegia 42, Autosomal Dominant
Spastic gait, Spastic paraplegia, Skeletal muscle atrophy, Babinski sign OMIM:612539
Spastic Paraplegia 85, Autosomal Recessive
Impaired vibratory sensation, Generalized amyotrophy, Spastic paraplegia, Upper limb spasticity, ... OMIM:619686
Spinocerebellar Ataxia 31
Cerebellar atrophy, Limb ataxia, Gait ataxia, Ataxia OMIM:117210
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Limb ataxia, Gait ataxia... OMIM:603516
Combined Oxidative Phosphorylation Deficiency 13
Skeletal muscle atrophy, Leukodystrophy, Decreased nerve conduction velocity, Dystonia, Choreoath... OMIM:614932
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Gait ataxia, Intention tremor, Babinski sign,... ORPHA:98890
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Abnorma... OMIM:605253
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Action tremor, Rigidity, Babinski sign, ... OMIM:300423
Charcot-Marie-Tooth Disease, Type 4A
Distal amyotrophy, Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, ... OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Steppage gait, Distal amyotrophy, Foot dorsiflexor weakness, Impaired distal vibration sensation OMIM:618036
Spastic Paraplegia 77, Autosomal Recessive
Spastic paraplegia, Upper limb muscle weakness, Lower limb muscle weakness, Babinski sign, Lower ... OMIM:617046
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Distal amyotrophy, Decreased amplit... OMIM:608673
Neuronopathy, Distal Hereditary Motor, X-Linked
Unsteady gait, Distal amyotrophy, Distal sensory impairment, Spinal muscular atrophy OMIM:300489
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Spasticity, Cerebellar atrophy, CNS hypomyelination, Leukodystrophy, Limb ataxia, Limb dystonia, ... OMIM:617560
Leukoencephalopathy, Brain Calcifications, And Cysts
Mental deterioration, Spasticity, Leukodystrophy, Hemiplegia, Tremor, Abnormality of extrapyramid... OMIM:614561
Dystonia 22, Juvenile-Onset
Mental deterioration, Dysdiadochokinesis, Cerebellar atrophy, Generalized dystonia, Laryngeal dys... OMIM:620453
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Difficulty walking, Distal sensory impairment, Spinal mu... OMIM:615048
Hypertrophic Neuropathy Of Dejerine-Sottas
Tongue fasciculations, Broad-based gait, Distal amyotrophy, Decreased motor nerve conduction velo... OMIM:145900
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Progressive neurologic deterioration, Necrotizing myopathy, Fasciculations, Diff... ORPHA:329478
Autosomal Dominant Spastic Paraplegia Type 73
Abnormal lower-limb motor evoked potentials, Progressive spastic paraplegia, Progressive spastic ... ORPHA:444099
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Charcot-Marie-Tooth Disease And Deafness
Distal amyotrophy, Decreased motor nerve conduction velocity, Thenar muscle weakness, Limb muscle... OMIM:118300
Spinal Muscular Atrophy, Type Iii
Shoulder girdle muscle atrophy, Tongue fasciculations, Distal amyotrophy, Lower limb muscle weakn... OMIM:253400
Periventricular Nodular Heterotopia 8
Cerebellar vermis atrophy, Periventricular nodular heterotopia, Spasticity, Delayed CNS myelination OMIM:618185
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Mental deterioration, Cerebellar atrophy, Lower... OMIM:614409
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Spinocerebellar tract degeneration, Cerebral atrophy, Leukodystrophy, Tremor,... OMIM:617916
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Mental deterioration, Optic atrophy, Cerebellar atrophy, Difficulty walking, ... OMIM:612319
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Dystonia 23
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Limb dystonia, Myoclonus, Axial dysto... OMIM:614860
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Inability to walk, Ankle... OMIM:611225
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Distal amyotrophy, Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Foot ... OMIM:614436
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Distal amyotrophy, Global brain atrophy, Spinocerebellar tract degene... ORPHA:94124
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsifle... OMIM:118220
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Foot joint contracture, Skeletal muscle atrophy, Cerebral atrophy, Inability to wa... ORPHA:457205
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
Distal amyotrophy, Upper limb muscle weakness, Babinski sign, Hypertonia, Impaired vibration sens... OMIM:182960
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness, Impaired vibration sensation ... OMIM:607565
Microlissencephaly
Cerebral cortical atrophy, Cerebellar atrophy, Polymicrogyria, Periventricular heterotopia, Cereb... ORPHA:1083
Charcot-Marie-Tooth Disease, Type 4D
Distal amyotrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Claw... OMIM:601455
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Abno... ORPHA:98763
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... OMIM:616948
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb d... ORPHA:363710
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal amyotrophy, Gait disturbance, Steppage gait, Distal sensory impairment OMIM:616625
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, Distal sensory impairment,... OMIM:601472
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Mental deterioration, Distal amyotrophy, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, De... OMIM:208920
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Spastic paraparesis, Decreased motor nerve conduction velocity, Hand tremor, Ha... ORPHA:101076
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy, Ataxia OMIM:158500
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Confusion, Chorea, Limb ataxia, Positive Romberg sign, Gait... OMIM:607136
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Generalized dystonia, Inability to walk, Cerebellar vermis atrophy, Lower lim... OMIM:619389
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Upper limb muscle weakness, Impaired pain sensation, Lower limb muscle weakness, P... OMIM:618511
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Tremor, Ataxia ORPHA:1368
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Cerebellar atrophy, Cerebral atrophy, Positive Romberg sign, Dysmetria, Weakness of f... OMIM:618088
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Leg muscle stiffness, Dementia, Akinesia, Myoclonus, Distal senso... OMIM:606693
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Leukodystrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Cerebellar atrophy, Myoclonus, Short attention span, Tremor, Dy... OMIM:619028
Ataxia, Sensory, 1, Autosomal Dominant
Decreased amplitude of sensory action potentials, Dysesthesia, Abnormal cerebellum morphology, Po... OMIM:608984
Spinocerebellar Ataxia Type 17
Blepharospasm, Mental deterioration, Spasticity, Involuntary movements, Cerebellar atrophy, Chore... ORPHA:98759
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Pontocerebellar ... ORPHA:423275
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Spastic Paraplegia 7, Autosomal Recessive
Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, Degeneration of the ... OMIM:607259
Autosomal Dominant Spastic Paraplegia Type 19
Abnormal lower-limb motor evoked potentials, Lower limb muscle weakness, Progressive spastic para... ORPHA:100999
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Distal amyotrophy, Decreased motor nerve conduction velocity, Peripheral demyelination, Limb musc... OMIM:118200
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral dysmyelination, Decreased nerve ... ORPHA:101082
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Rigidity, Gait di... OMIM:603472
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Loss of ambulation, Cl... OMIM:614877
Spastic Paraplegia 39, Autosomal Recessive
Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraplegia, Distal lower limb muscle w... OMIM:612020
Pontocerebellar Hypoplasia, Type 2D
Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Chorea, Appendicular spasticity,... OMIM:613811
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Vocal cord paresis, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakne... ORPHA:600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Amyotrophic Lateral Sclerosis 3
Dementia, Cerebellar atrophy, Lower limb muscle weakness OMIM:606640
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Mental deterioration, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy... OMIM:617672
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Dysequilibrium Syndrome
Gait disturbance, Skeletal muscle atrophy, Cerebral palsy, Ataxia ORPHA:1766
Spastic Paraplegia 5A, Autosomal Recessive
Spastic paraplegia, Upper limb spasticity, Optic atrophy, Upper limb muscle weakness, Lower limb ... OMIM:270800
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Fiber type grouping, Tremor, Distal amyotrophy, Distal sensory impairment OMIM:614369
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebral cortical atrophy, Broad-based gait, Skeletal muscle atrophy, Cerebellar atrophy, Lower l... OMIM:616479
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Pachygyria, Gait ata... OMIM:224050
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebellar atrophy, Optic atrophy, EEG with irregular generalized spike and wave complexe... ORPHA:352596
Spastic Paraplegia Type 7
Optic atrophy, Cerebral cortical atrophy, Memory impairment, Cerebellar atrophy, Upper limb muscl... ORPHA:99013
Autosomal Dominant Spastic Paraplegia Type 38
Frontotemporal cerebral atrophy, Progressive spastic paraplegia, Impaired vibration sensation in ... ORPHA:171617
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Multiple joint contractures, Tremor, Ankle clon... ORPHA:521406
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab... ORPHA:101110
Juvenile Primary Lateral Sclerosis
Spasticity, Skeletal muscle atrophy, Abnormal upper motor neuron morphology, Gait imbalance, Abno... ORPHA:247604
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Difficulty walking, Limb muscle weakness, Ragged-red muscle... OMIM:500002
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal amyotrophy, Fasciculations, Tremor, Spinal muscular atrophy, Loss of ambulation, Proximal ... OMIM:182980
Charcot-Marie-Tooth Disease, Type 4B2
Distal amyotrophy, Decreased motor nerve conduction velocity, Difficulty walking, Foot dorsiflexo... OMIM:604563
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Mental deterioration, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal p... OMIM:617145
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Neurodegeneration With Brain Iron Accumulation 6
Mental deterioration, Distal amyotrophy, Spastic paraparesis, Tip-toe gait, Neurodegeneration, Ri... OMIM:615643
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Truncal ataxia, Cerebellar atrophy, Cerebral atrophy OMIM:611726
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Inability to walk, Confusion, Chorea, Gait ataxia, Action tremo... OMIM:607483
Autosomal Recessive Spastic Paraplegia Type 63
Scissor gait, Spasticity, Skeletal muscle atrophy, Hypertonia ORPHA:401805
Spinocerebellar Ataxia 2
Spasticity, Action tremor, Parkinsonism, Ataxia, Unsteady gait, Bradykinesia, Progressive cerebel... OMIM:183090
Adult Krabbe Disease
Mental deterioration, Spasticity, Broad-based gait, Lower limb muscle weakness, Tetraparesis, Per... ORPHA:206448
Boucher-Neuhauser Syndrome
Spasticity, Distal amyotrophy, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait a... OMIM:215470
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Tongue fasciculations, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Hand t... OMIM:162400
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Abnormal tendon morphology, Cere... ORPHA:320391
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Myoclonus, Cogn... OMIM:607346
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Atrophy/Degeneration affe... OMIM:615957
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ... OMIM:600224
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Gemignani Syndrome
Skeletal muscle atrophy, Impaired pain sensation, Hemiplegia/hemiparesis, Ataxia ORPHA:2074
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat... ORPHA:726
Spinocerebellar Ataxia 50
Froment sign, Memory impairment, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural ... OMIM:620158
Myopathy And Diabetes Mellitus
Impaired vibratory sensation, Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscl... ORPHA:2596
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s... OMIM:616204
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Temporal cortical atrophy, Tetraparesis, Limb muscle weakness, Myopathy, Loss of ambulation, Fron... OMIM:167320
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Hand muscle atrophy, Abnormal exte... OMIM:205100
Autosomal Spastic Paraplegia Type 58
Spasticity, Peripheral demyelination, Spastic ataxia, Abnormal pyramidal sign, Clonus, Torticolli... ORPHA:397946
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Decrea... OMIM:606353
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady... OMIM:302500
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Cerebellar atrophy, Tip-toe gait, Difficulty walking, Cerebellar cyst, Reduce... ORPHA:370980
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Tremor, Rigidity, Dysto... ORPHA:329284
Leukodystrophy, Hypomyelinating, 21
Mental deterioration, Optic atrophy, Cerebellar atrophy, Tetraparesis, Corpus callosum atrophy, A... OMIM:619310
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
EEG with abnormally slow frequencies, EEG with generalized epileptiform discharges, Cerebellar at... ORPHA:1947
Spinocerebellar Ataxia 28
Spasticity, Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Ragged-red... OMIM:610246
Krabbe Disease
Optic atrophy, Neurodegeneration, Decreased nerve conduction velocity, Peripheral demyelination, ... OMIM:245200
Spastic Ataxia 9, Autosomal Recessive
Spasticity, Distal amyotrophy, Cerebellar vermis atrophy, Dysmetria, Hoffmann sign, Babinski sign... OMIM:618438
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Shuffling gait, Cerebellar atrophy, Cerebral atrophy, Hand muscle weakness, Muscle... ORPHA:254886
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Cerebral atrophy, Polymicrogyria, Hypertonia, Pachygyria, Spastic tetraplegia... OMIM:618730
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Distal amyotrophy, Distal sensory impairment OMIM:608895
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Decreased nerve conduction velocity, Myoclonus, Intention tremor, Dysmetria, ... OMIM:618356
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral demyelination, Paraparesis, Impaired distal proprioception ORPHA:231445
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Difficulty walking, Spina... ORPHA:466768
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Involuntary movements, Distal amyotrophy, Cerebellar atrophy, Cerebral cortical at... OMIM:271245
Sandhoff Disease, Juvenile Form
Skeletal muscle atrophy, Acroparesthesia, Cerebellar atrophy, Fasciculations, Incoordination, Cer... ORPHA:309162
Autosomal Recessive Spastic Paraplegia Type 39
Spastic paraplegia, Cerebellar atrophy, Generalized limb muscle atrophy, Gait ataxia, Babinski si... ORPHA:139480
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... OMIM:616127
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Spasticity, Spastic paraparesis, Resting tremor, Myelopathy, Abnormal motor... ORPHA:909
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor, Generalized ... ORPHA:2589
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Gait ataxia, Myoclonus, ... ORPHA:248111
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Elbow flexion contracture, EEG with bu... OMIM:619303
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Spastic paraplegia, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased ampli... OMIM:256840
Spinocerebellar Ataxia, Autosomal Recessive 27
Mental deterioration, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, Gait imbalance, ... OMIM:618369
Autosomal Recessive Spastic Paraplegia Type 11
Mental deterioration, Cerebral cortical atrophy, Distal amyotrophy, Memory impairment, Lower limb... ORPHA:2822
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a... OMIM:613728
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Distal amyotro... OMIM:601596
Autosomal Dominant Spastic Paraplegia Type 42
Progressive spastic paraplegia, Lower limb muscle weakness, Impaired vibration sensation in the l... ORPHA:171863
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Inability to walk, Decreased ... OMIM:218000
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dyston... ORPHA:71517
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Decreased motor nerve conduction velocity, Cerebral atrophy, Gait ataxia, Bab... OMIM:616192
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Progressive spastic paraplegia, Hand tremor, Lower limb spasticity, Ab... ORPHA:401830
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Decreased nerve conduction velocity, Type 1 muscle fiber predominance,... ORPHA:319514
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, Cerebellar atrophy, Limb myoclonus, Cerebral atrophy, Progressive psychomotor dete... ORPHA:263516
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Neuronal loss in central nervous system, Demen... OMIM:143100
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c... OMIM:610185
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, EEG with burst suppression, Myoclonus, Cerebellar hypoplasia, Attention defic... OMIM:619971
Spinocerebellar Ataxia 11
Cerebellar atrophy, Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebel... OMIM:604432
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Progressive psychomotor deterioration, C... ORPHA:1170
Spastic Paraparesis-Deafness Syndrome
Spastic paraparesis, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Ataxia ORPHA:2815
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma, Foot dorsiflexor wea... OMIM:613641
Folinic Acid-Responsive Seizures
Optic atrophy, Broad-based gait, Frontotemporal cerebral atrophy, Cerebellar atrophy, Difficulty ... ORPHA:79097
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Cerebellar atrophy, Spinocerebellar ... OMIM:109150
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Oculom... ORPHA:208513
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... ORPHA:95434
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Tongue fasciculations, Skeletal muscle atrophy, Difficulty w... OMIM:159950
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Cerebellar atrophy, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, Dysdiado... OMIM:615386
Spinocerebellar Ataxia 49
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambulation, ... OMIM:619806
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Distal amyotrophy, Upper limb muscle weakness, Distal sensory impairment, Decreased number of per... OMIM:607677
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetria,... OMIM:617810
Adrenoleukodystrophy
Spastic paraplegia, Mental deterioration, Lower limb muscle weakness, Incoordination, Neurodegene... OMIM:300100
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Distal amyotrophy, Foot dorsiflexor weakness, Distal sensory impairment, Decreased number of peri... OMIM:607731
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Joint contracture of the hand, Broad-based gait, Skeletal muscle atrophy, Impaired... OMIM:609033
Spinocerebellar Ataxia 48
Mental deterioration, Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, ... OMIM:618093
Autosomal Recessive Spastic Paraplegia Type 15
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Spastic paraplegia, Upper limb muscl... ORPHA:100996
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Spasticity, Somatic sensory dysfunction, Generalized limb muscle atrophy, Cerebell... ORPHA:466794
Congenital Disorder Of Glycosylation, Type Iiz
Diffuse cerebellar atrophy, Limb joint contracture, Clonus, Appendicular spasticity OMIM:620201
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Spasticity, Spastic paraparesis, Skeletal muscle atrophy, Upper limb muscle weakne... ORPHA:320375
Autosomal Recessive Spastic Paraplegia Type 78
Cerebral cortical atrophy, Cerebellar atrophy, Progressive spastic paraplegia, Difficulty walking... ORPHA:513436
Sodium-Dependent Multivitamin Transporter Deficiency
Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebral palsy, Polymicrogyria, Cerebral ... OMIM:618973
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Mental deterioration, Cerebral cortical atrophy, Skeletal muscle atrophy, Tip... OMIM:604360
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxia, Ataxia, D... OMIM:615889
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Skeletal muscle atrophy, Cerebellar atrophy, Difficulty walking... ORPHA:330050
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... ORPHA:284324
Behr Syndrome
Optic atrophy, Cerebellar atrophy, Frequent falls, Cerebellar vermis atrophy, Hamstring contractu... OMIM:210000
Spastic Paraplegia 79B, Autosomal Recessive
Tetraparesis, Neurodegeneration, Loss of ambulation, Ataxia, Impaired vibratory sensation, Spasti... OMIM:615491
Spastic Paraplegia 48, Autosomal Recessive
Spastic paraplegia, Broad-based gait, Spastic paraparesis, Mental deterioration, Tip-toe gait, Lo... OMIM:613647
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Progressive cerebellar ataxia, Spasticity, Distal amyotrophy, Cerebral atrophy, Impaired vibratio... ORPHA:352641
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... OMIM:616795
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Skeletal muscle atrophy, Cerebellar atrophy, Tetrapares... OMIM:620546
Leukodystrophy, Hypomyelinating, 11
Spasticity, Cerebellar atrophy, CNS hypomyelination, Leukodystrophy, Myoclonus, Tremor, Ataxia OMIM:616494
Charcot-Marie-Tooth Disease Type 1E
Joint contracture of the hand, Difficulty walking, Impaired vibration sensation in the lower limb... ORPHA:90658
Spastic Paraplegia 76, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Difficulty walking, Gait... OMIM:616907
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Spasticity, Cerebellar atrophy, Cerebral atrophy, Babinski sign, Delayed CNS myelination, Waddlin... OMIM:619090
Friedreich Ataxia
Optic atrophy, Spasticity, Falls, Decreased motor nerve conduction velocity, Inability to walk, C... ORPHA:95
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Skeletal muscle atrophy, Impaired pain sensation, Cerebellar vermis atrophy, Paresthe... OMIM:616719
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Paraparesis, Abnormality of peripheral nerve conduction ORPHA:101005
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Distal amyotrophy, Demyelinating sensory neuropathy, Demyelinating motor neur... OMIM:182815
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Hyperkinetic mov... OMIM:617493
Machado-Joseph Disease Type 1
Spasticity, Memory impairment, Skeletal muscle atrophy, Cerebellar atrophy, Spinocerebellar tract... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Memory impairment, Skeletal muscle atrophy, Cerebellar atrophy, Spinocerebellar tract... ORPHA:276241
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Distal amyotrophy, Demyelinating sensory neuropathy, Impaired vibration sensation in the lower li... ORPHA:639
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Gait imbalance, Myoclonus, Ataxia, Dementia, Unsteady gait, Frequent falls, C... OMIM:301020
Primary Angiitis Of The Central Nervous System
Transient global amnesia, Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinsonism, ... ORPHA:140989
Neurodegeneration With Brain Iron Accumulation 4
Mental deterioration, Spasticity, Distal amyotrophy, Cerebellar atrophy, Optic atrophy, Generaliz... OMIM:614298
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, Gait ataxia,... ORPHA:512260
Neurodegeneration With Brain Iron Accumulation 5
Mental deterioration, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneratio... OMIM:300894
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Impaired vibratory sensation, Proximal muscle weakness in lower limbs, Spastic paraplegia, Skelet... OMIM:620538
Optic Atrophy 11
Increased variability in muscle fiber diameter, Optic atrophy, EEG with focal sharp waves, Facial... OMIM:617302
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hand tremor, Gait ataxia, Atroph... OMIM:617862
Wild Type Abeta2M Amyloidosis
Abnormality of the thenar eminence, Abnormal tendon morphology, Tetraparesis, Decreased amplitude... ORPHA:85446
Machado-Joseph Disease Type 3
Spasticity, Memory impairment, Skeletal muscle atrophy, Cerebellar atrophy, Spinocerebellar tract... ORPHA:276244
Developmental And Epileptic Encephalopathy 37
Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity,... OMIM:616981
Gordon Holmes Syndrome
Cerebellar atrophy, Cerebral atrophy, Chorea, Ataxia, Dementia OMIM:212840
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Unsteady gait, Gait ataxia, Ataxia OMIM:615705
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Spasticity, Inability to walk, Tremor, Hypsarrhythmia, Atax... ORPHA:599373
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Difficulty walking, Muscle fiber atrophy, Axial dystonia, Opisthot... ORPHA:300605
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Decreased nerve conductio... OMIM:256600
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy, EEG abnormality OMIM:617643
Metachromatic Leukodystrophy
Mental deterioration, Optic atrophy, Decreased nerve conduction velocity, Chorea, Peripheral demy... OMIM:250100
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Skeletal muscle atrophy, Hand tremor, Spinal muscular atrophy, Degeneratio... OMIM:253550
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal amyotrophy, Decreased motor nerve conduction velocity, Distal sensory impairment, Decrease... OMIM:607831
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Finger joint contracture, Chorea, Paresthesia, Abnormality of peripher... ORPHA:48431
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Ataxia-Telangiectasia-Like Disorder 1
Distal amyotrophy, Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Dystonia, Lower limb spast... OMIM:604391
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... OMIM:614831
Spastic Ataxia 3, Autosomal Recessive
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia... OMIM:611390
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Vocal cord paresis, Peripheral demyelination, Distal sen... ORPHA:101097
Spinocerebellar Ataxia 21
Mental deterioration, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rig... OMIM:607454
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Cerebral atrophy, Chorea, Peripheral demyelination, Ax... OMIM:604168
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Spasticity, Confusion, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski... OMIM:606777
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr... OMIM:618090
Ataxia With Vitamin E Deficiency
Short term memory impairment, Tendon xanthomatosis, Cerebellar atrophy, Positive Romberg sign, Dy... OMIM:277460
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Memory impairment, Cerebellar atrophy, Incoordi... ORPHA:157941
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Decreased motor nerve conduction velocity, Decreased muscle mass, Inability to ... OMIM:615490
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Spasticity, Memory impairment, Leukodystrophy, Progressive psychomotor deteriorati... ORPHA:309271
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Distal amyotrophy, Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Step... OMIM:606483
Pontocerebellar Hypoplasia, Type 1A
Tongue fasciculations, Cerebral cortical atrophy, Distal amyotrophy, Congenital contracture, Hypo... OMIM:607596
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Spastic paraplegia, Skeletal muscle atrophy, Postural tremor, Babin... ORPHA:100988
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tongue fascicul... OMIM:619216
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Spasticity, Cerebellar atrophy, Leukodystrophy, Tremor, Rigidity, Cerebral hypomye... OMIM:612438
Mitochondrial Complex I Deficiency, Nuclear Type 26
Distal amyotrophy, Cerebellar atrophy, Cerebral atrophy, Limb hypertonia, EEG abnormality, Dyston... OMIM:618247
X-Linked Adrenoleukodystrophy
Leg muscle stiffness, Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordinatio... ORPHA:43
Muscular Atrophy, Malignant Neurogenic
Respiratory paralysis, Skeletal muscle atrophy OMIM:158650
Spinocerebellar Ataxia Type 27
Memory impairment, Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Ga... ORPHA:98764
Spinocerebellar Ataxia 13
Optic atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Limb dysmetria, Myoclonu... OMIM:605259
Hereditary Myopathy With Early Respiratory Failure