Gene Summary

Name:
N-myc downstream regulated gene 1
Synonyms:
PROXY1,  Tdd5,  DRG1,  Ndrl,  TDD5,  CMT4D,  CAP43,  Ndr1

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 bone mineral density Ndrg1tm2b(KOMP)Wtsi HOM Early adult 2.75×10-05
increased circulating phosphate level Ndrg1tm2b(KOMP)Wtsi HOM   Early adult 9.93×10-05
tremors Ndrg1tm2b(KOMP)Wtsi HOM Early adult 1.44×10-13
decreased fasting circulating glucose level Ndrg1tm2b(KOMP)Wtsi HOM Early adult 8.88×10-06
abnormal gait Ndrg1tm2b(KOMP)Wtsi HOM Early adult 2.09×10-18
decreased grip strength Ndrg1tm2b(KOMP)Wtsi HOM Early adult 8.58×10-21
prolonged RR interval Ndrg1tm2b(KOMP)Wtsi HOM Early adult 4.13×10-05
decreased prepulse inhibition Ndrg1tm2b(KOMP)Wtsi HOM   Early adult 6.04×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 50% (1 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 50% (1 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 50% (1 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 Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 50% (1 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 100% (2 of 2)
Sciatic nerve N/A heterozygote 100% (2 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 50% (1 of 2)
Spleen N/A heterozygote 50% (1 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland 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)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 50% (1 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 50% (1 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
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%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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.

Adult LacZ

LacZ Images Section

60 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Ndrg1 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 Ndrg1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ndrg1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Spontaneous pain sensation, Somatic sensory dysfunction, Fall... ORPHA:2932
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal amyotrophy, Decreased motor nerve conduction velocity, Tremor, Clusters of axonal regenera... OMIM:607734
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased nerve conduction... OMIM:601098
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve ... OMIM:180800
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal sensory im... OMIM:611228
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Broad-based gait, Basal lamina onion bulb formation, Decreased motor nerve conduction velocity, D... OMIM:614895
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased amplitude of se... ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Decrease... OMIM:609260
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Hypertrophic nerve changes, Decreased motor nerve conduction veloci... DECIPHER:29
Null Syndrome
Optic atrophy, CNS hypomyelination, Difficulty walking, Decreased nerve conduction velocity, Peri... ORPHA:280234
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Abnormal motor nerve conduction velocity, Tremor, Vocal co... OMIM:158580
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
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment, Axonal ... OMIM:608323
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Distal sensory impai... OMIM:118210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Distal amyotrophy, Hand tremor, Peripheral demyelination, Decreased compound muscle action potent... OMIM:618279
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Calf muscle hypoplasia, Decreased amplitude of sensory action potentials, Decreased nerve conduct... ORPHA:90103
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Hand muscle weakness, Vocal cord paralys... OMIM:162500
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Decreased motor nerve conduction velocity, Hand tremor, Hand muscle weakness,... OMIM:302800
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Steppage gait, Impaired ... OMIM:610100
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased number of periphe... OMIM:609311
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Distal lower ... OMIM:619112
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... ORPHA:99953
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Decreased mot... OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Spasticity, Increased endomysial connective tissue, Decr... OMIM:620068
Hereditary Motor And Sensory Neuropathy V
Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, F... OMIM:600361
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Distal amyotrophy, Spastic paraparesis, Decreased motor ... ORPHA:101077
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Spasticity, Spastic paraplegia, Distal lower limb amyotrophy, Abnormality of perip... ORPHA:431329
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Distal amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Foot dorsiflex... OMIM:605726
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Broad-based gait, Decreased motor nerve conduction velocity, Peripher... OMIM:145900
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Decreased nerve conduction velocity, Central nervous system degeneration... ORPHA:868
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Fasciculations, Spinal mus... OMIM:615575
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal sensory impairment... OMIM:615376
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Decreased motor nerve conduction velocity, Paresthesia, Gait imbalanc... ORPHA:101081
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Per... OMIM:605285
Optic Atrophy 2
Optic atrophy, Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Peripheral demyelination, ... OMIM:118200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination, Gait disturbance, Distal sensory i... ORPHA:99944
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Skeletal muscle atrophy, Tremor, Peripheral axonal neuropathy, Babinski sign, Ataxia,... OMIM:611105
Leukodystrophy, Hypomyelinating, 18
Spasticity, Cerebellar atrophy, Decreased nerve conduction velocity, Abnormal motor nerve conduct... OMIM:618404
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Skeletal muscle atrophy, Fasciculations, Decreased nerve conduction velocity, Rigidit... OMIM:183050
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Optic atrophy, Cataract, Distal amyotrophy, Cerebellar atrophy, Spasticity, Decreased ner... OMIM:612674
Charcot-Marie-Tooth Disease Type 2B1
Proximal muscle weakness in lower limbs, Hand muscle atrophy, Motor axonal neuropathy, Proximal a... ORPHA:98856
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Demyelinating sensory neuropathy, Abnormal motor evoked potentials, Somatic sensory dysfunction, ... ORPHA:99939
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, Dominant Intermediate A
Somatic sensory dysfunction, Peripheral demyelination, Axonal degeneration/regeneration, Peripher... OMIM:620378
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Abnorma... OMIM:605253
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... OMIM:160120
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Distal sensory impairment,... OMIM:118220
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Decreased amplitude of s... OMIM:618912
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Distal sensory impai... OMIM:605588
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Distal amyotrophy, Demyelinating sensory neuropathy, Demyelinating motor neur... OMIM:182815
Amyotrophic Lateral Sclerosis 11
Upper motor neuron dysfunction, Decreased nerve conduction velocity, Skeletal muscle atrophy, Amy... OMIM:612577
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal amyotrophy, Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, P... OMIM:606482
Cataract-Ataxia-Deafness Syndrome
Ataxia, Decreased nerve conduction velocity, Tremor, Developmental cataract, Hypertonia ORPHA:1368
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Difficulty walking, Axonal degeneration/regeneration, Distal sensory impairment, Steppage gait, S... OMIM:606483
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy, Spastic paraplegia, Hand muscle atrophy, Babinski sign, Lower limb spasticity, Dem... OMIM:615658
Spastic Paraplegia 38, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Lower limb muscle weakness, Thenar muscle weakness, Babins... OMIM:612335
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Clonus, Ataxia, Catara... OMIM:614877
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation, Distal sensory impairment OMIM:616039
Monomelic Amyotrophy
Fasciculations, Distal upper limb amyotrophy, Abnormality of peripheral nerve conduction, Tremor,... ORPHA:65684
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Difficulty walking, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:620111
X-Linked Charcot-Marie-Tooth Disease Type 6
Hand tremor, Lower limb muscle weakness, Decreased nerve conduction velocity, Distal lower limb a... ORPHA:352675
Spinocerebellar Ataxia Type 43
Distal amyotrophy, Cerebellar vermis atrophy, Limb ataxia, Cogwheel rigidity, Foot dorsiflexor we... ORPHA:497764
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Impaired vibratory sensation, Impaired pain sensation, Peripheral demyelination, Distal sensory i... OMIM:615185
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, CNS hypomyelinati... OMIM:610532
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, P... OMIM:617672
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Distal amyotrophy, Decreased motor nerve conduction velocity, Fasciculations, Distal lower limb a... OMIM:600882
Spastic Paraplegia 77, Autosomal Recessive
Spastic paraplegia, Upper limb muscle weakness, Lower limb muscle weakness, Babinski sign, Lower ... OMIM:617046
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Combined Oxidative Phosphorylation Deficiency 13
Cataract, Skeletal muscle atrophy, Leukodystrophy, Decreased nerve conduction velocity, Dystonia,... OMIM:614932
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... OMIM:608673
Neuropathy, Congenital Hypomyelinating, 2
Sensory ataxia, Decreased motor nerve conduction velocity, Inability to walk, Facial diplegia, De... OMIM:618184
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Broad-based gait, Impaired pain sensation, Tip-toe gait, Difficulty walking, Decreased nerve cond... ORPHA:435387
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Distal amyotrophy, Denervation of the diaphrag... ORPHA:99948
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Vocal cord pare... ORPHA:101097
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Abnormality of peripheral nerve conduction, Paraparesis, Developmental catara... ORPHA:101005
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Steppage gait, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:302801
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Myoclonic spasms, Prolo... ORPHA:94090
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Cerebral atrophy, Amyotrophic lateral sclerosis, Tetraparesis, Abnormal ... OMIM:105550
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Peroneal muscle atrophy, Thenar muscle atrophy, Peroneal muscle weakness, Decreased motor nerve c... OMIM:614751
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Distal amyotrophy, Upper limb muscle weakness, Decreased nerve conduction velocity, Foot dorsifle... OMIM:302802
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Rest... OMIM:619279
Autosomal Dominant Spastic Paraplegia Type 17
Distal amyotrophy, Abnormality of the foot musculature, Hand muscle weakness, Postural tremor, Ab... ORPHA:100998
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Skeletal muscle atrophy, Tremor, Ataxia ORPHA:101078
Charcot-Marie-Tooth Disease, Type 4B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials... OMIM:601382
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Tremor, Paraparesis, Ataxia, Skeletal muscle h... ORPHA:99014
Roussy-Lévy Syndrome
Distal amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Lower limb... ORPHA:3115
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment, Decreas... OMIM:604563
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Distal lower limb amyotrophy, Distal upper limb amyotrophy, T... ORPHA:101075
Spastic Paraplegia 17, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Decreased motor nerve conduction velocity, Lower limb musc... OMIM:270685
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Babinski sign, Lower limb spasticity, ... ORPHA:401820
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Lower limb muscle weakness, D... OMIM:613287
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Neurodegeneration, Incoordination, Paraparesis, Gait apraxia... OMIM:615157
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia, Loss of ambulation, C... OMIM:249900
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle atrophy, Peripheral dysmyelination, Decreased nerve conduction velocity, Abnormal... ORPHA:101082
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Impaired pain sensation, Distal sensory impairment, De... OMIM:607684
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, ... DECIPHER:59
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Gait ataxia, Intention tremor, Babinski sign,... ORPHA:98890
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Distal lower limb amyotrophy... ORPHA:482601
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Impaired vibratory sensation, Decreased motor nerve conduction velocity, Distal sensory i... OMIM:607250
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal amyotrophy, Fasciculations, Tremor, Spinal muscular atrophy, Proximal amyotrophy OMIM:182980
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Distal amyotro... OMIM:601596
Miyoshi Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Shoulder girdle muscle weakn... ORPHA:45448
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
Distal amyotrophy, Upper limb muscle weakness, Chronic axonal neuropathy, Babinski sign, Hypertonia OMIM:182960
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Steppage gait, Vestibular schwannoma, Dista... OMIM:613641
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Microcornea, Decreased motor nerve conduction velocity, Cerebral atrophy, Peripheral demyelinatio... OMIM:604168
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Peripheral demyelination, Ataxia, Axonal loss, Dystonia OMIM:616684
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Tongue fasciculations, Cataract, Skeletal muscle atrophy, Decreased motor nerve conduction veloci... OMIM:162400
Spastic Paraplegia 42, Autosomal Dominant
Spastic gait, Spastic paraplegia, Skeletal muscle atrophy, Babinski sign OMIM:612539
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraparesis, Foot dorsi... ORPHA:496756
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis, Impaired distal proprioception ORPHA:231445
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Distal sensory impairment, Loss of ambulation, Gait disturba... OMIM:615284
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Spasticity, Distal amyotrophy, Optic atrophy, Spastic paraplegia, Knee... OMIM:615043
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Distal sensory impairment, Gait disturbance, Segmental peripheral demyelination/re... OMIM:311070
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Peripheral demyelination, Onion bulb formation OMIM:608236
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait, ... ORPHA:401840
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of p... OMIM:607677
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Tremor, Abnormality of extrapyramidal motor function, Optic disc pallor OMIM:165300
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Cataract, Spastic dysarthria, Progressive spastic paraplegia, Hand tre... ORPHA:401830
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Spastic paraplegia, Lower limb muscle weakness, Tibialis anterior muscle atrophy, ... OMIM:615035
Autosomal Recessive Spastic Paraplegia Type 43
Ankle flexion contracture, Spasticity, Distal amyotrophy, Spastic paraparesis, Knee flexion contr... ORPHA:320370
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Steppage gait, Distal sensory impairment, Decreased number of peripheral mye... OMIM:607731
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Generalized limb muscle atrophy, Scapular winging, Proximal lower limb amyotrophy, Facial palsy, ... ORPHA:219
Spastic Paraplegia 31, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Ankle... OMIM:610250
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Distal amyotrophy, Leg muscle stiffness, Progressive spastic parapleg... ORPHA:101010
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Distal sensory impairme... OMIM:601455
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Tip-toe gait, Axonal degeneration/regeneration, Distal... OMIM:614436
Spinal Muscular Atrophy, Type Iii
Shoulder girdle muscle atrophy, Tongue fasciculations, Distal amyotrophy, Lower limb muscle weakn... OMIM:253400
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Spasticity, Sensory axonal neuropathy, Upper limb muscle... ORPHA:309169
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination, Distal amyotr... OMIM:607791
Autosomal Spastic Paraplegia Type 58
Erratic myoclonus, Spasticity, Distal amyotrophy, Frequent falls, Fasciculations, Peripheral demy... ORPHA:397946
Amyotrophic Lateral Sclerosis Type 4
Spastic paraplegia, Abnormal pyramidal sign, Skeletal muscle atrophy, Babinski sign ORPHA:357043
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Foot joint contracture, Skeletal muscle atrophy, Cerebral atrophy, Sensory axonal ... ORPHA:457205
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Tremor, Spinal muscular atrophy, Calf muscle hypertrophy OMIM:615048
Spinocerebellar Ataxia 43
Distal amyotrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Unsteady gait, Acute demyelinating polyneuropathy, Dysesthesia ORPHA:98916
Dysequilibrium Syndrome
Cataract, Skeletal muscle atrophy, Cerebral palsy, Ataxia ORPHA:1766
Krabbe Disease
Optic atrophy, Neurodegeneration, Decreased nerve conduction velocity, Peripheral demyelination, ... OMIM:245200
Charcot-Marie-Tooth Disease And Deafness
Distal amyotrophy, Decreased motor nerve conduction velocity, Thenar muscle weakness, Limb muscle... OMIM:118300
Muscular Atrophy, Malignant Neurogenic
Respiratory paralysis, Skeletal muscle atrophy OMIM:158650
Spastic Paraplegia 63, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Babinski sign, Scissor gait, Clonus, Hypertonia OMIM:615686
Spastic Paraparesis And Deafness
Cataract, Spastic paraparesis, Tremor OMIM:312910
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Fiber type grouping, Distal amyotrophy, Tremor OMIM:614369
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Skeletal muscle atrophy, Fasciculations, Ankle clonus, Hoffmann sign, Babinski sign, ... OMIM:615681
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Leukodystrophy, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abn... OMIM:614561
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spastic Paraplegia 73, Autosomal Dominant
Spastic paraplegia, Prolonged central motor conduction time, Skeletal muscle atrophy, Babinski sign OMIM:616282
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Progressive spasticity, Spastic paraparesis, Sensory axonal neuropathy, Decreased ... OMIM:608804
Distal Hereditary Motor Neuropathy Type 5
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, Abnormal motor nerve condu... ORPHA:139536
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Steppage gait, Decreased motor nerve conduction velocity OMIM:607678
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Sensory axonal neuropathy, Cerebellar atrophy, Limb muscle weakness, Tre... OMIM:607458
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Global brain atrophy, Tetraparesis, Fasciculations, Abnormality of... ORPHA:275872
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Waddling gait, Decreased compound muscle action potential amplitude, Distal sensory impairment, C... OMIM:616040
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Sen... ORPHA:139578
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, Peripheral demyelination, CNS demyelination OMIM:250850
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Facial diplegia, Peripheral hypomyelination, Distal arthrogryposis, Vocal cord... OMIM:616287
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, ... ORPHA:36913
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Demyelinating sensory neuropathy, Head tremor, Hand musc... ORPHA:101085
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Knee flexion contracture, Lower limb spasticity, Clonus, Spastic gait ORPHA:401785
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Fasciculations, Decreased nerve conduction velocity, Facia... ORPHA:329478
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Decreased nerve conduction ve... OMIM:218000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... OMIM:600794
Ataxia-Deafness-Intellectual Disability Syndrome
Ataxia, Cerebral cortical atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:1188
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
EEG with generalized slow activity, Unsteady gait, Tip-toe gait, Decreased number of peripheral m... ORPHA:2386
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Distal amyotrophy, Cerebellar atrophy, Spastic paraparesis, Lower limb muscle weaknes... OMIM:614487
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness, Dysmetria, Ankle clonus, Peri... OMIM:610357
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal amyotrophy, Decreased motor nerve conduction velocity OMIM:605589
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Autosomal Recessive Spastic Paraplegia Type 63
Scissor gait, Spasticity, Skeletal muscle atrophy, Hypertonia ORPHA:401805
Neuronopathy, Distal Hereditary Motor, X-Linked
Abnormal peripheral nervous system morphology, Distal amyotrophy, Spinal muscular atrophy OMIM:300489
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Cerebellar atrophy, Limb myoclonus, Postural tremor, Limb ata... OMIM:619862
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... OMIM:616053
Autosomal Recessive Spastic Paraplegia Type 21
Spasticity, Frontotemporal cerebral atrophy, Lower limb muscle weakness, Abnormality of periphera... ORPHA:101001
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Post... ORPHA:99950
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb muscle weakness, Limb ataxia, Gait ataxia, Ankle clonus, Babi... ORPHA:488594
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Rigidity, Elevated circulating creatine kinase concentration, Tac... OMIM:145600
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Distal amyotrophy, Lower limb muscle weakness, Fasciculations, Myoclonus, Gait ataxia... OMIM:607317
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Skeletal muscle atrophy, Hand tremor, Spinal muscular atrophy, Degeneratio... OMIM:253550
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment OMIM:607736
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Generalized amyotrophy, Myoclonus, Progressive gait ataxia, Intention tremor, Progressive cerebel... ORPHA:2589
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Ankle clonus, Babinski s... OMIM:611225
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... OMIM:601472
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Decreased nerve conduction velocity, Type 1 muscle fiber predominance,... ORPHA:319514
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Broad-based gait, Impaired vibration sensation in the lower limbs, Peripheral demy... OMIM:609033
Autosomal Dominant Spastic Paraplegia Type 4
Spasticity, Distal amyotrophy, Leg muscle stiffness, Lower limb muscle weakness, Ankle clonus, Ba... ORPHA:100985
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased muscle mass, Knee flexion contracture, Decre... OMIM:615490
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Distal amyotrophy, Hand muscle weakness, Foot dorsiflexor weakness, Hand muscle atrophy, Peripher... OMIM:616280
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Arrhythmia, Gait disturbance, Torticollis,... OMIM:614860
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Cerebellar atrophy, Limb ataxia, Gait ataxia, Spastic gait OMIM:617133
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Spastic paraparesis, Decreased motor nerve conduction velocity, Hand tremor, Ha... ORPHA:101076
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, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Distal sensory impairment, Peripheral axonal neuropathy, Decre... OMIM:617087
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Myoclonus, EEG with polyspike wave complexes, Tremor, Enhancemen... OMIM:615127
Spinal Muscular Atrophy, Scapuloperoneal
Peroneal muscle atrophy, Scapular muscle atrophy, Spinal muscular atrophy OMIM:271220
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Impaired distal tactile sensation, Impaired distal vib... OMIM:616687
Neurodegeneration With Brain Iron Accumulation 6
Distal amyotrophy, Spastic paraparesis, Bradykinesia, Neurodegeneration, Motor axonal neuropathy,... OMIM:615643
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sensory acti... OMIM:616688
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Dysmetria, ... OMIM:159550
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat... ORPHA:726
Spastic Ataxia, Charlevoix-Saguenay Type
Peroneal muscle atrophy, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity... OMIM:270550
Spastic Paraplegia 64, Autosomal Recessive
Spastic paraplegia, Spasticity, Skeletal muscle atrophy, Developmental cataract OMIM:615683
Spastic Paraparesis-Deafness Syndrome
Cataract, Spastic paraparesis, Hemiplegia/hemiparesis, Ataxia ORPHA:2815
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Cerebral cortical atrophy, Cataract, Microcornea, Chorea, Abnormality of peripheral nerve... ORPHA:48431
Leukodystrophy, Hypomyelinating, 24
Cataract, Tongue fasciculations, Decreased motor nerve conduction velocity, Cerebral atrophy, Leu... OMIM:619851
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Increased bone density with cystic ch... ORPHA:94089
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Spastic paraplegia, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased ampli... OMIM:256840
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, EEG abnormalit... OMIM:606777
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Distal amyotrophy, Decreased nerve conduction velocity OMIM:608895
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Tremor, Hereditary Essential, 6
Leukodystrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraplegia, Distal lowe... ORPHA:468661
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Global brain atrophy, Skeletal muscle atrophy, Cerebellar atro... OMIM:618276
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Cataract, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopa... OMIM:609115
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract, Distal lower limb amyotrophy ORPHA:73245
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Skeletal muscle atrophy, Cerebral atrophy, Facial diplegia, Knee flexion cont... OMIM:616286
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Spasticity, Upper limb muscle weaknes... ORPHA:206448
Autosomal Dominant Spastic Paraplegia Type 73
Abnormal lower-limb motor evoked potentials, Progressive spastic paraplegia, Progressive spastic ... ORPHA:444099
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy, Ataxia OMIM:158500
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Foot dorsiflexor weakness, Spin... OMIM:617207
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Spastic paraparesis, Upper limb muscl... ORPHA:206443
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo... OMIM:613608
Spastic Paraplegia 2, X-Linked
Optic atrophy, Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Dysmetria... OMIM:312920
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Spinal muscular atrophy, ... ORPHA:466768
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Distal amyotrophy, Cerebellar atrophy, Spastic paraparesis, Lower limb muscle weaknes... ORPHA:313772
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Decreased number of peripheral myelinated nerve fibers, Axonal degen... OMIM:604484
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Spastic paraplegia, Skeletal muscle atrophy, Babinski sign, Lower limb spasticity,... OMIM:613162
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Babinski si... OMIM:500002
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tongue fascicul... OMIM:619216
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Peripheral axonal neuropathy, Skeletal muscle atrophy, Paralysis OMIM:613710
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Decreased nerve conduct... OMIM:604320
Intellectual Developmental Disorder, Autosomal Dominant 56
Ataxia, Spasticity, Bradykinesia, Myoclonus, Pontocerebellar atrophy, Clumsiness, Delayed CNS mye... OMIM:617854
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Tremor, Ataxia OMIM:615945
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination, Neuronal loss in central nervous system, Paraplegia ORPHA:71211
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Peripheral axonal neuropathy, Distal amyotrophy, Tremor, Ataxia OMIM:619099
Hypoparathyroidism, Familial Isolated, 1
Chvostek sign, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Cerebral atrophy, Peripheral demyelination, Myoclonus, Babinski sign, Caudate atrophy... OMIM:221770
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Distal amyotrophy, Progressive spastic paraplegia, Distal lower limb amyotrophy, M... ORPHA:320406
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Lower limb muscle ... OMIM:248900
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Axonal regeneration, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased numb... OMIM:607831
Blue Diaper Syndrome
Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia ORPHA:94086
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Multiple joint contractures, Tremor, Ankle clonus, Dystonia, Babinski sign, Parkinson... ORPHA:521406
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Cerebral cortical atrophy, Spasticity, Spastic paraparesis, Spastic paraplegia, Decreased nerve c... OMIM:238970
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Sensory axonal neuropathy, Fasciculations, Foot dorsiflexor weakness, Ne... OMIM:137200
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Head tremor, Torticollis, Dystonia, Intention tremor OMIM:613724
Wild Type Abeta2M Amyloidosis
Abnormality of the thenar eminence, Abnormal tendon morphology, Decreased amplitude of sensory ac... ORPHA:85446
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, EEG abnormality, Hypertonia, Atax... ORPHA:71277
Spinocerebellar Ataxia Type 1
Optic atrophy, Abnormal nerve conduction velocity, Skeletal muscle atrophy, Cerebellar atrophy, A... ORPHA:98755
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Gait ataxia, Facial myokymia, Babinski sign, Decreased number of larg... ORPHA:101111
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Spasticity, Spastic paraparesis, Cerebellar atrophy, Distal lower limb amyotrophy,... OMIM:616680
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Gait disturbance, Truncal obesity ORPHA:2928
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weaknes... OMIM:604360
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal amyotrophy, Demyelinating sensory neuropathy, Limb muscle weakness, Foot dorsiflexor weakn... OMIM:618387
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Leg muscle stiffness, Bradykinesia, Myoclonus, Tremor, Rigidity, ... OMIM:606693
Ataxia, Sensory, 1, Autosomal Dominant
Decreased amplitude of sensory action potentials, Dysesthesia, Positive Romberg sign, Gait ataxia... OMIM:608984
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic paraparesis, Peripheral demyelination, Peripheral hypomyelination, Torticolli... OMIM:609136
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential, Gait disturbance, ... OMIM:618400
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Spasticity, Tremor, EEG with focal epileptiform discharges,... ORPHA:599373
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Babinski sign, Park... OMIM:260300
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Chorea, Cogwheel rigidity, Action tremor, Gait ataxia, Rigidity... OMIM:607483
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Hypomimic face, Brady... OMIM:300911
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebral cortical atrophy, Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Sensory axonal n... OMIM:271245
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy, Fasciculations ORPHA:85162
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Decreased nerve condu... ORPHA:397744
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Hypertonia, Elevated circulating creatine kinase concentration OMIM:154276
Epilepsy, Progressive Myoclonic, 1B
Sensory axonal neuropathy, Myoclonus, Dysmetria, Tremor, Babinski sign, Ataxia OMIM:612437
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Paralysis OMIM:608634
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia OMIM:618618
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Spastic paraplegia, Upper limb spasticity, Cataract, Upper limb muscle weakness, L... OMIM:270800
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Spasticity, Spastic paraparesis, Skeletal muscle atrophy, Upper limb muscle weakne... ORPHA:320375
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Gait disturbance, Ataxia,... OMIM:603472
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture OMIM:614915
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Leukodystrophy, Pseudobulbar paralysis, Autonomic bladder dysfunction, Orthostatic hy... OMIM:169500
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Temporal cortical atrophy, Pelvic girdle muscle ... OMIM:167320
Autosomal Dominant Hypocalcemia
Hypotension, Hyperphosphatemia, Hypomagnesemia, Congestive heart failure, Fatigable weakness, Hyp... ORPHA:428
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Peripheral axonal neuropathy, Ataxia OMIM:615957
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Decreased compound muscle action potential ampl... OMIM:602433
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Tongue fasciculations, Skeletal muscle atrophy, Myoclonus, S... OMIM:159950
Horner Syndrome, Congenital
Heterochromia iridis, Paralysis, Congenital Horner syndrome OMIM:143000
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Pseudobulbar paralysis, Decreased compound muscle action potential amp... OMIM:606353
Autosomal Recessive Spastic Paraplegia Type 35
Cerebral cortical atrophy, Optic atrophy, Spastic paraplegia, Cerebellar atrophy, Generalized dys... ORPHA:171629
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination, Chorea, Babinski si... OMIM:250100
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spastic paraplegia, Progressive spastic paraparesis, Upper motor neuron dysfunction, ... ORPHA:506353
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Spastic paraplegia, Cerebellar atrophy, Spastic tetraparesis, Neurodegeneration, D... OMIM:612319
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Tremor, R... ORPHA:329284
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paralysis OMIM:158590
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, EEG abnormality, Ataxia OMIM:610951
Spastic Paraplegia 85, Autosomal Recessive
Optic atrophy, Spastic paraplegia, Upper limb spasticity, Cerebellar atrophy, Lower limb muscle w... OMIM:619686
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sig... OMIM:613672
Primary Angiitis Of The Central Nervous System
Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Distal amyotrophy, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia,... OMIM:611302
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Sialidosis Type 1
Cataract, Skeletal muscle atrophy, Decreased nerve conduction velocity, Myoclonus, Tremor, Cornea... ORPHA:812
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Spasticity, Distal amyotrophy, Cerebral atrophy, Head tremor, Gait ataxia, Peripheral axonal neur... ORPHA:352641
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Axonal loss, Dystonia, Athetosis OMIM:300857
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Fatigable weakness of swallowing muscles, Difficulty walking, Hypocalcemia, Ar... ORPHA:99845
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Cataract, Sensory axonal neuropathy, Lower limb muscle weakness, Limb-girdle muscl... ORPHA:329314
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Tongue fasciculations, Camptodactyly of finger, A... OMIM:614399
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Elbow flexion contracture, R... ORPHA:306692
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Hand muscle atrophy, Spasticity of facial muscles, Opi... OMIM:205100
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Dysdiadochokinesis, Decreased nerve conduction velocity, Myoclonus, Dysmetria... OMIM:618356
Spastic Paraplegia 70, Autosomal Recessive
Spasticity, Skeletal muscle atrophy, Fasciculations, Ankle clonus, Achilles tendon contracture OMIM:620323
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Frequent falls, Foot dorsiflexor weakn... OMIM:620011
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Cerebral atrophy, Abnormal lower motor neuron morphology, Paralysi... OMIM:105500
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Decreased nerve conductio... OMIM:256600
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis, Writer's cramp OMIM:159900
Spastic Paraplegia 76, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Sensory axonal neuropathy, Lower limb muscle weaknes... OMIM:616907
Bethlem Myopathy 1A
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... OMIM:158810
Gemignani Syndrome
Skeletal muscle atrophy, Hemiplegia/hemiparesis, Ataxia ORPHA:2074
Epilepsy, Progressive Myoclonic 7
EEG with generalized epileptiform discharges, Myoclonus, Tremor, Ataxia OMIM:616187
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Limb fasciculations, Lim... OMIM:603516
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Motor axonal neuropathy, Weakness of facial muscula... OMIM:617519
Amyotrophic Lateral Sclerosis 1
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Pseudobulbar ... OMIM:105400
Spinocerebellar Ataxia Type 37
Falls, Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Gait disturbance, Truncal ataxia, Dy... ORPHA:363710
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Hippocampal atrophy, Tetrapar... OMIM:617892
Autosomal Dominant Spastic Paraplegia Type 42
Progressive spastic paraplegia, Lower limb muscle weakness, Degeneration of the lateral corticosp... ORPHA:171863
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Myoclon... ORPHA:254343
Juvenile Primary Lateral Sclerosis
Spasticity, Skeletal muscle atrophy, Abnormal pyramidal sign, Spastic gait, Spastic tetraparesis,... ORPHA:247604
Basal Ganglia Calcification, Idiopathic, 1
Athetosis, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal s... OMIM:213600
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Oculogyric crisis, Hyperphosphatemia, Pulmonary embolism, Hypom... ORPHA:94093
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Distal lower limb muscle weakness, Skeletal muscle atrophy OMIM:615025
Spinocerebellar Ataxia Type 40
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Pontocerebellar atrophy, Intenti... ORPHA:423275
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Developmental And Epileptic Encephalopathy 35
Cataract, Cerebral atrophy, Delayed CNS myelination, Limb tremor, Brain atrophy OMIM:616647
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Multiple joint contractures OMIM:611369
Leukodystrophy, Hypomyelinating, 3
Global brain atrophy, Spastic paraparesis, Leukodystrophy, Sudanophilic leukodystrophy, Appendicu... OMIM:260600
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Cachexia, Abnormality of visual evoked potentials, Ataxia ORPHA:1933
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Impaired distal tactile sensation, Impaired distal vibration sensation, Decreased number of perip... OMIM:607080
Cerebellar Ataxia, Cayman Type
Ataxia, Cerebellar atrophy, Skeletal muscle atrophy, Bradykinesia, Gait ataxia, Hypomimic face, T... OMIM:601238
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Vocal cord paresis, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakne... ORPHA:600
Spastic Paraplegia 9B, Autosomal Recessive
Cerebral cortical atrophy, Cataract, Spasticity, Skeletal muscle atrophy, Spastic paraplegia, Pse... OMIM:616586
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Hyperphenylalaninemia, Transient hyperphenylalaninemia OMIM:264070
Multifocal Motor Neuropathy
Fasciculations, Limb muscle weakness, Motor conduction block, Weakness of long finger extensor mu... ORPHA:641
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidit... ORPHA:216873
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Spasticity, Spastic paraparesis, Resting tremor, Abnormal motor evoked pote... ORPHA:909
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Upper limb muscle weakness, Lower limb muscle weakness, Limb fasciculations, Abnormal peripheral ... ORPHA:90117
Charcot-Marie-Tooth Disease Type 1E
Acroparesthesia, Difficulty walking, Decreased nerve conduction velocity, Impaired vibration sens... ORPHA:90658
Autosomal Recessive Spastic Paraplegia Type 26
Cerebral cortical atrophy, Cataract, Skeletal muscle atrophy, Pseudobulbar paralysis, Babinski si... ORPHA:101006
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Spastic Paraplegia 46, Autosomal Recessive
Cataract, Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Lower limb muscle weakness, H... OMIM:614409
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Sensory axonal neuropathy, Quadriceps muscle weakness, Hand tremor, Hand muscle we... ORPHA:99947
Leber Optic Atrophy And Dystonia
Optic atrophy, Spasticity, Skeletal muscle atrophy, Bradykinesia, Upper motor neuron dysfunction,... OMIM:500001
Microcephaly, Seizures, And Developmental Delay
Ataxia, Skeletal muscle atrophy, Cerebellar atrophy OMIM:613402
Spinal Muscular Atrophy, Ryukyuan Type
Proximal amyotrophy, Spinal muscular atrophy, Fasciculations OMIM:271200
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Distal amyotrophy, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Tremor, Axonal degenerat... OMIM:208920
Spinocerebellar Ataxia 1
Optic atrophy, Spasticity, Distal amyotrophy, Skeletal muscle atrophy, Decreased motor nerve cond... OMIM:164400
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Optic... ORPHA:401768
Pontocerebellar Hypoplasia, Type 1C
Cerebral cortical atrophy, Tongue fasciculations, Skeletal muscle atrophy, Spinal muscular atroph... OMIM:616081
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Facial palsy OMIM:609273
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower... ORPHA:251282
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak... ORPHA:2596
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Interictal epileptiform activity, Myoclonus, Tremor OMIM:615400
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Spasticity, Lower limb muscle weakness, Cataract OMIM:620312
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Combined Oxidative Phosphorylation Defect Type 39
Involuntary movements, Cerebral atrophy, Decreased nerve conduction velocity, Leg dystonia, Ankle... ORPHA:565624
Cataract 11, Multiple Types
Cataract, Chorea, Developmental cataract, Hypertonia OMIM:610623
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Involuntary movements, Tongue fasciculations, Ske... ORPHA:238329
Adrenoleukodystrophy
Spastic paraplegia, Lower limb muscle weakness, Neurodegeneration, Incoordination, Limb ataxia, P... OMIM:300100
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy, Myoclonus, Tremor, Dystonia, Frequent falls OMIM:619647
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Myopathy, Distal, 4
Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ... OMIM:614065
Friedreich Ataxia
Optic atrophy, Spasticity, Sensory axonal neuropathy, Decreased motor nerve conduction velocity, ... ORPHA:95
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Spasticity, Decerebrate rigidity, Leukodystrophy, Decreased nerve conduction veloc... ORPHA:309263
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Unsteady gait, Truncal ataxia, Nonprogressive cerebellar ataxia, Spast... ORPHA:314978
Autosomal Recessive Spastic Paraplegia Type 39
Spastic paraplegia, Cerebellar atrophy, Generalized limb muscle atrophy, Gait ataxia, Motor axona... ORPHA:139480