Gene Summary

Name:
ubiquitin carboxy-terminal hydrolase L1
Synonyms:
PGP9.5,  PGP 9.5

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal spine curvature Uchl1tm1b(EUCOMM)Hmgu HET Early adult 1.70×10-08
increased startle reflex Uchl1tm1b(EUCOMM)Hmgu HET Early adult 1.24×10-05
increased circulating alkaline phosphatase level Uchl1tm1b(EUCOMM)Hmgu HET Early adult 1.41×10-06
hyperactivity Uchl1tm1b(EUCOMM)Hmgu HET   Early adult 8.00×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone 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)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Liver 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)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch 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)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
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)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote Ambiguous
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 50% (1 of 2)
Tail N/A homozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.73% (4 of 545)
aorta 0.18% (1 of 541)
bone 0.0%
brain 0.92% (5 of 546)
brainstem 0.19% (1 of 540)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 533)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 542)
esophagus 1.3% (5 of 384)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 547)
hippocampus 0.37% (2 of 540)
hypothalamus 0.37% (2 of 534)
kidney 4.63% (25 of 540)
large intestine 5.56% (30 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 546)
lung 0.18% (1 of 546)
lymph node 0.18% (1 of 547)
mammary gland 0.0%
olfactory lobe 0.36% (2 of 555)
oral epithelium 0.0%
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.93% (5 of 540)
parathyroid gland 0.0%
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 560)
prostate gland 2.03% (11 of 541)
skeletal muscle 0.0%
skin 0.19% (1 of 539)
small intestine 5.04% (27 of 536)
spinal cord 0.57% (3 of 529)
spleen 0.56% (3 of 539)
stomach 3.42% (19 of 555)
striatum 0.37% (2 of 547)
testis 1.1% (6 of 545)
thymus 0.18% (1 of 546)
thyroid gland 2.93% (16 of 546)
trachea 0.54% (3 of 557)
uterus 0.36% (2 of 554)
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

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

Echo

M-Mode Images

48 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Adult LacZ

LacZ Images Wholemount

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

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

6 Images

Human diseases caused by Uchl1 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 Uchl1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Uchl1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Mononeuropathy Of The Median Nerve, Mild
Peripheral axonal neuropathy OMIM:613353
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:614373
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Neuropathy, Hereditary Sensory, Atypical
Ataxia, Babinski sign, Sensory ataxia OMIM:256860
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Pallor o... OMIM:602433
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... OMIM:606482
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system OMIM:608030
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity OMIM:612577
Spinocerebellar Ataxia Type 4
Ataxia, Impaired vibratory sensation, Sensory axonal neuropathy, Gait disturbance, Motor axonal n... ORPHA:98765
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal d... OMIM:614436
Myasthenic Syndrome, Congenital, 15
Frequent falls, Difficulty walking, Fatigable weakness OMIM:616227
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Dysmetria, Axonal degeneration, Hand tremor, Onion bulb formation, Decreased motor n... OMIM:302800
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Optic Atrophy 2
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk OMIM:209100
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... OMIM:615157
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Myasthenic Syndrome, Congenital, 18
Ataxia, Fatigable weakness, Difficulty walking OMIM:616330
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Cerebral atrophy, Corpus callosum atrophy, Truncal ataxia, Cerebellar atrophy OMIM:615268
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Congenital Myasthenic Syndromes With Glycosylation Defect
Lumbar hyperlordosis, Favorable response of weakness to acetylcholine esterase inhibitors, Fatiga... ORPHA:353327
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Paralysis OMIM:608634
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory impairment,... OMIM:604484
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... OMIM:605285
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617769
Huntington Disease-Like 2
Cerebral cortical atrophy, Parkinsonism, Chorea, Gait disturbance, Involuntary movements, Weight ... ORPHA:98934
Spinocerebellar Ataxia 41
Ataxia, Cerebellar atrophy, Unsteady gait OMIM:616410
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Fatigable weakness of swallowing muscles, Neurodegeneration, Motor... ORPHA:803
Diaminopentanuria
Ataxia, Neurodegeneration, Spasticity OMIM:222350
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Loss of ambulation, Decreased miniature endplate potentials OMIM:616321
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy OMIM:605388
Spinocerebellar Ataxia Type 30
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia ORPHA:211017
Autosomal Spastic Paraplegia Type 30
Ataxia, Diffuse cerebellar atrophy, Babinski sign, Distal sensory impairment, Somatic sensory dys... ORPHA:101010
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Loss of ambulation, Limb at... OMIM:208920
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... OMIM:214400
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells ORPHA:65684
Spinocerebellar Ataxia 43
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... OMIM:617018
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis, Cerebellar... OMIM:606183
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia OMIM:615889
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Talipes equinovarus, Axonal degener... OMIM:601596
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... OMIM:105400
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Athetosis, Paralysis, Dystonia, Axonal loss OMIM:300857
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Talipes equinovarus, Axonal degeneration, Distal sensory impairment, Gait disturbance, Steppage gait OMIM:616155
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Autosomal Recessive Spastic Paraplegia Type 32
Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Babinski sign, Progres... ORPHA:171622
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Spinocerebellar Ataxia 37
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy OMIM:615945
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Talipes equinovarus, Peripheral axonal neuropathy, Distal sensory impairment, Difficulty walking,... OMIM:613710
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Axonal degeneration, Falls, Clonus, Tongue fasciculations OMIM:618811
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Inability to walk, Talipes equinovarus, Axonal degeneration, Peripheral axonal ... OMIM:615490
Myasthenic Syndrome, Congenital, 5
Decreased size of nerve terminals, Fatigable weakness, Scoliosis, Hyperlordosis, Prolonged miniat... OMIM:603034
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Cerebellar atrophy ORPHA:423296
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy OMIM:616437
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Babinski sign, Peripheral axonal neuropathy, Tremor, Spasticity OMIM:611105
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Cerebellar atrophy ORPHA:217012
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Diffuse cerebral atrophy, Tremor, Gait disturbance, Metaphysea... OMIM:300660
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Scoliosis OMIM:614750
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Porphyria, Acute Hepatic
Paresthesia, Failure to thrive, Paralysis, Respiratory paralysis OMIM:612740
Spinocerebellar Ataxia 35
Torticollis, Loss of ambulation, Ataxia, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells OMIM:253550
Spinocerebellar Ataxia 38
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:615957
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of large peripheral myelinated nerve fibers, Inability to walk, Axonal degenerat... ORPHA:98856
Spinocerebellar Ataxia 31
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:117210
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Ataxia, Babinski sign, Spasticity of facial muscles, Difficulty wa... OMIM:205100
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk, Cerebellar atrophy OMIM:619333
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... ORPHA:101108
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis OMIM:606777
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Cerebral cortical atrophy, Decreased body weight, Cerebral atrophy, Abnormal pyramidal si... OMIM:617672
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Scoliosis OMIM:616311
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Degeneration of anterior horn cells, Facial palsy, Scoliosis, Fasciculations, Myoclonus, Frequent... OMIM:159950
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Ravine Syndrome
Failure to thrive, Ataxia, Decreased body weight, Abnormal brainstem morphology, Atrophy/Degenera... ORPHA:99852
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... ORPHA:363710
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Cerebellar atrophy, Gait ataxia, Limb ataxia OMIM:617133
Myoclonus, Familial, 1
Frequent falls, Myoclonus, Ataxia, Falls OMIM:614937
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Talipes equinovarus, Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, D... OMIM:604168
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Cere... OMIM:616948
Idiopathic Camptocormia
Spinal canal stenosis, Abnormal synaptic transmission at the neuromuscular junction, Amyotrophic ... ORPHA:1320
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Cerebral atrophy, Poor fine motor coordination, Abnormal cer... ORPHA:98762
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy OMIM:616291
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Ulnar claw, Impaired distal tactile sensation, Onion bulb formation, Decreased motor nerve conduc... OMIM:607706
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Axonal degeneration, Impaired vibration sensation in the lower limbs,... ORPHA:88628
Spastic Ataxia-Corneal Dystrophy Syndrome
Ataxia, Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Gait disturb... ORPHA:2572
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... DECIPHER:29
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Abnormal cerebellum morphology, Clumsiness, Dysmetria, Poor coordination, Ankle... OMIM:270500
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Ataxia, Cerebral degeneration OMIM:260970
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Sensory axonal neuropathy, Tremor, Cerebellar atrop... OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Peripheral axonal neuropathy, Distal sensory impairment, Hammertoe, Tremor, Ga... OMIM:618387
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Peripheral axonal neuropathy, Optic atrophy, Optic disc pallor, Difficulty w... OMIM:617087
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... ORPHA:284332
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Global brain atrophy OMIM:619132
Spinocerebellar Ataxia 30
Ataxia, Cerebellar atrophy OMIM:613371
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Scoliosis, Decreased miniature endplate potentials OMIM:608930
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Inability to walk by childhood/adolescence, Poor fine motor coordination, Hand tremor, Impaired v... ORPHA:99947
Spinocerebellar Ataxia 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Pontocere... OMIM:616053
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Cerebellar hypoplasia, Tremor, Spastici... OMIM:615768
Juvenile Huntington Disease
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... ORPHA:248111
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Cerebral atrophy, Myoclonus, Increased neuronal autofluorescent lipopigment, Cerebellar a... OMIM:600143
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Abnormal cerebellum morphology, Myoclonus, Babinski sign, Diffuse cerebral atrophy, Tremo... OMIM:615362
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... OMIM:617862
X-Linked Progressive Cerebellar Ataxia
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Limb ataxia, Dysmetria, Int... ORPHA:1175
Spinal Muscular Atrophy, Type Iii
Loss of ambulation, Hand tremor, Degeneration of anterior horn cells, Limb fasciculations, Tongue... OMIM:253400
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Pontocere... ORPHA:423275
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Failure to thrive, Talipes equinovarus, Decreased nerve conduction velocity, Axonal degeneration,... OMIM:604320
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Cerebral atrophy, Rigidity, Parkinsonism, Gait disturbance, Tremor, Substantia nigr... OMIM:600116
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... ORPHA:71277
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axonal de... OMIM:608720
Spinocerebellar Ataxia 23
Neuronal loss in central nervous system, Dysmetria, Limb ataxia, Impaired vibration sensation in ... OMIM:610245
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Cerebral atr... OMIM:105550
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Neurodegeneration, Cerebral atrophy, Cerebellar atrophy OMIM:610951
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Hypertonia, Decreased sensory nerve conduction velocity, Onion bulb fo... OMIM:609260
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Decreased ... OMIM:254210
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Optic atrophy, Tremor, Progressive spasticity, Gait disturbance... OMIM:210000
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Talipes equinovarus, Axonal degeneration, Peripheral axonal neuropathy, Craniofacial dystonia, Fr... OMIM:620011
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Peripheral axonal neuropathy, Frequent falls, Tremor, Gait atax... OMIM:607317
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Immunodeficiency 8
Hyperactivity OMIM:615401
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Ankle clonus, Babinski sign, Tetraparesis, Abnormal lower motor ne... OMIM:613954
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology, Facial palsy, Vocal cord paralysis OMIM:607641
Juvenile Amyotrophic Lateral Sclerosis
Oromandibular dystonia, Amyotrophic lateral sclerosis, Ataxia, Hypertonia, Inability to walk, Axi... ORPHA:300605
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 29
Ataxia, Cerebellar vermis atrophy, Inability to walk, Iron accumulation in substantia nigra, Corp... OMIM:619389
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Babinski sign, Scoliosis, Spastic paraplegia, Gait disturbance, Upper limb spasticity, ... OMIM:611225
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia, Cerebellar atrophy OMIM:616187
Dystonia 23
Torticollis, Cerebral cortical atrophy, Axial dystonia, Myoclonus, Head tremor, Gait disturbance,... OMIM:614860
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Decreased ... OMIM:605809
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Cerebellar... OMIM:618093
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity OMIM:238700
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system OMIM:600274
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Truncal ataxia, Dysmetria OMIM:617584
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Rigidity, Gait disturbance, Degeneration of the striatum OMIM:609161
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy OMIM:141500
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Prolonged miniature endplate currents, Fatigable weakness, Decreased size of nerve terminals OMIM:601462
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Loss of ambulation, Talipes equinovarus, Impaired vibratory sensation,... ORPHA:101097
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Difficulty... ORPHA:401820
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Sensory axonal neuropathy, Dysmetria OMIM:612437
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Paralysis, Cerebral atrophy, Cerebellar atrophy OMIM:616286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Kyphosis, Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Brain atrophy, Cranial nerve compression, Abnormal motor neuron mo... ORPHA:52430
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Fascic... OMIM:613728
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Neurodegeneration, Gait disturbance, S... OMIM:615643
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Neurodegeneration, Atrophy/De... OMIM:612319
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials, Cerebellar ... OMIM:618876
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Progressive cerebellar ataxia, Cerebellar Purkinje layer atrophy, Park... ORPHA:98756
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Clumsiness, Dysmetria, Intention tremor, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:608029
Huntington Disease-Like 2
Apathy, Anxiety, Chorea, Weight loss, Irritability OMIM:606438
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Bradykinesia, Resting tremor, Impaired vibratory sensation, Ba... OMIM:617225
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Short palm, Dysmetria, Small hand, Dysdiadochokinesis, Truncal ataxia, Cerebellar hypoplasia, Tre... OMIM:610185
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinsk... ORPHA:521406
Horner Syndrome, Congenital
Paralysis OMIM:143000
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Spinocerebellar Ataxia 46
Dysmetria, Limb ataxia, Positive Romberg sign, Gait ataxia, Cerebellar atrophy OMIM:617770
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity OMIM:612069
Myasthenic Syndrome, Congenital, 14
Fatigable weakness, Scoliosis, Waddling gait, Hyperlordosis OMIM:616228
Cyanide-Induced Parkinsonism-Dystonia
Cerebral cortical atrophy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling... ORPHA:306692
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Loss of ambulation, Postu... OMIM:608627
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Abnormality of the dorsal column of the spinal cord, Progressive cerebellar ataxia, Babinski sign... ORPHA:137898
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Parkinsonism, Neurodegeneration, Rigidity, T... OMIM:300894
Spinocerebellar Ataxia Type 14
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremo... ORPHA:98763
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor, Cerebellar atrophy OMIM:302500
Spinocerebellar Ataxia 12
Action tremor, Cerebral cortical atrophy, Progressive cerebellar ataxia, Dysmetria, Axial dystoni... OMIM:604326
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Abnormal cerebellar... ORPHA:33445
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hypoesthesia, Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction ... OMIM:162500
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor, Cerebellar atrophy OMIM:618090
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Cerebral cortical atrophy, Limb ataxia, Hand tremor, Degeneration of anterior horn cells,... OMIM:607596
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Fatigable weakness, Hyperlordosis OMIM:614198
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... ORPHA:99948
Spastic Paraplegia 30, Autosomal Dominant
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Spastic paraplegia, Cerebellar atrophy, Spastic g... OMIM:610357
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Myasthenic Syndrome, Congenital, 12
Facial palsy, Fatigable weakness, Waddling gait OMIM:610542
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... OMIM:180800
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Cerebral atrophy, Babinski sign, Parkinsonism, Rigidity, Falls, Gait... OMIM:300423
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Cerebellar vermis atrophy, Small for gestational age, Babinski sign, Dilated... OMIM:619054
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... ORPHA:251282
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor, Attention deficit hyperactivity disorder OMIM:617863
Encephalopathy, Progressive, With Or Without Lipodystrophy
Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Myoclonus, Abnormal pyramidal ... OMIM:615924
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Abnormal pyramidal sign, Optic atrophy, Tremor, Unsteady gait, Incoordination, Obesity OMIM:614947
Spastic Paraplegia 79, Autosomal Recessive
Ataxia, Cerebral atrophy, Dysmetria, Intention tremor, Ankle clonus, Babinski sign, Neurodegenera... OMIM:615491
Machado-Joseph Disease Type 3
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Degenera... ORPHA:276244
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Ataxia, Dysmetria, Limb ataxia, Scoliosis, Peripheral axonal neuropathy, Gait ataxia, S... OMIM:610743
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Opti... ORPHA:216873
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramidal sign, Truncal ataxia, A... ORPHA:95434
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Babinski... ORPHA:139578
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of neck muscles, Decreased size of nerve terminals, Scoliosis, Thoracic kyphos... ORPHA:98913
Neurodegeneration With Brain Iron Accumulation 7
Loss of ambulation, Ataxia, Cerebral atrophy, Dysmetria, Spasticity, Cerebellar atrophy OMIM:617916
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Kyphosis, Ataxia, Lumbar hyperlordosis, Inability to walk, Cerebral atrophy, Sc... OMIM:616756
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Talip... OMIM:128230
Spinocerebellar Ataxia, Autosomal Recessive 26
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... OMIM:617633
Subacute Inflammatory Demyelinating Polyneuropathy
Tremor, Difficulty walking, Abnormality of somatosensory evoked potentials, Peripheral demyelinat... ORPHA:206594
Lopes-Maciel-Rodan Syndrome
Kyphosis, Hypertonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Abnormal pyramidal sign, Scol... OMIM:617435
Tuberculosis
Weight loss ORPHA:3389
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Cerebellar hypoplasia, Tremor, Gait ataxia, Spasticity, Unsteady ... OMIM:213200
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum, Tre... ORPHA:79262
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Tremor, Dystonia, Hypoplasia of the brainstem OMIM:619651
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Ataxia, Scoliosis, Gait disturbance, Tremor, Abnormal nerve conduction velocity ORPHA:101075
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of large peripheral myelinated nerve fibers, Sensory ataxia, Decreased motor ner... OMIM:614895
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Spinal Muscular Atrophy, Jokela Type
Distal sensory impairment, Hammertoe, Tremor, Difficulty walking, Fasciculations OMIM:615048
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Ataxia, Clumsiness, Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, C... OMIM:616127
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... ORPHA:2932
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Spinocerebellar Ataxia Type 27
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Sensory axonal neuropathy, Gait disturbance, ... ORPHA:98764
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Talipes equinovarus, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spas... OMIM:616719
Huntington Disease
Gait imbalance, Clumsiness, Bradykinesia, Cerebral atrophy, Poor fine motor coordination, Inabili... ORPHA:399
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Unsteady gait, Cerebellar atrophy ORPHA:284271
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... OMIM:614831
Leukodystrophy, Hypomyelinating, 11
Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity, Cerebellar atrophy OMIM:616494
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Spastic paraparesis, Decreased motor nerve conduction velocity, Peripheral axo... ORPHA:101077
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Clumsiness, Dysmetria, Dysdiadochokinesis, Myoclonus, Increased neuronal autofluorescent ... OMIM:256731
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Olivopontocerebellar atrophy, Op... OMIM:164500
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Progressive cerebellar ataxia, Cerebral atrophy, Impaired vibration sensation in the lower limbs,... ORPHA:352641
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... OMIM:617145
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Talipes equinovaru... OMIM:260300
Spinocerebellar Ataxia Type 1
Gait imbalance, Loss of Purkinje cells in the cerebellar vermis, Impaired proprioception, Progres... ORPHA:98755
Huntington Disease-Like 1
Cerebral cortical atrophy, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, Sim... ORPHA:157941
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... ORPHA:284324
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Peripheral axonal neuropathy OMIM:619099
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:607734
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Cerebral atrophy, Dysmetria, Tip-toe gait, Intention tremor, Babi... ORPHA:397946
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Cerebral cortical atrophy, Clumsiness, Cerebral atrophy, Brain atrophy, Dysmetria, Poor f... ORPHA:79263
Isaacs Syndrome
Weight loss, Distal sensory impairment ORPHA:84142
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Diffuse cerebellar atrophy, Abnormal autonomic nervous system physiology, Axona... ORPHA:478029
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Spinocerebellar Ataxia Type 17
Torticollis, Neuronal loss in central nervous system, Ataxia, Blepharospasm, Cerebellar Purkinje ... ORPHA:98759
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Cerebellar atrophy, Lower limb spasticity, Impaired tandem ... OMIM:619028
Spinal Muscular Atrophy, X-Linked 2
Degeneration of anterior horn cells, Tongue fasciculations, Scoliosis, Facial palsy OMIM:301830
Spinocerebellar Ataxia, Autosomal Recessive 7
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Cerebe... OMIM:609270
Spinal Muscular Atrophy, Type Iv
Degeneration of anterior horn cells, Waddling gait, Hand tremor, Tongue fasciculations OMIM:271150
Pulmonary Blastoma
Weight loss ORPHA:64741
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Ataxia, Abnormal cerebellum morphology, Progressive cerebellar ataxia, Abnormal pons morphology, ... ORPHA:98
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Atrophy/Degeneration affecting the brainstem, Limb myoclo... OMIM:619862
Spinocerebellar Ataxia Type 26
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Cerebellar atrophy, Pr... ORPHA:101112
Acute Peripheral Arterial Occlusion
Paresthesia, Impaired distal tactile sensation, Paralysis ORPHA:90064
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Gait disturbance, Tremor, Impaired distal vibration sensation,... ORPHA:276435
Hypokalemic Periodic Paralysis
Fatigable weakness of respiratory muscles, Periodic hypokalemic paresis, Paralysis, Respiratory p... ORPHA:681
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Ataxia, Decreased nerve conduction velocity, Scoliosis, Gait disturbance, Tremor ORPHA:101078
Combined Oxidative Phosphorylation Deficiency 29
Optic neuropathy, Axonal degeneration, Optic atrophy, Spasticity, Cerebellar atrophy, Dystonia, G... OMIM:616811
Juvenile Primary Lateral Sclerosis
Gait imbalance, Abnormal pyramidal sign, Spastic dysarthria, Abnormal upper motor neuron morpholo... ORPHA:247604
Ataxia-Oculomotor Apraxia 3
Ataxia, Dysmetria, Distal sensory impairment, Frequent falls, Cerebellar atrophy, Oculomotor apraxia OMIM:615217
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Primary Lateral Sclerosis, Adult, 1
Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic tetraparesis, ... OMIM:611637
X-Linked Intellectual Disability, Hedera Type
Action tremor, Inability to walk, Extrapyramidal muscular rigidity, Dysmetria, Babinski sign, Fre... ORPHA:93952
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy OMIM:612016
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Babinski sign, Degeneration of the lateral corti... OMIM:600363
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:617691
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Spinocerebellar Ataxia 49
Loss of ambulation, Ataxia, Dysmetria, Dysdiadochokinesis, Babinski sign, Unsteady gait, Cerebell... OMIM:619806
Glutathionuria
Tremor OMIM:231950
Spinocerebellar Ataxia, Autosomal Recessive 18
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... OMIM:616204
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia, Cerebral cortical atrophy, Babinski sign, Parkinsonism OMIM:615911
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Dysmetria, Cerebellar hypoplasia, Optic atrophy, Tremor, Gait ataxia, Spastici... OMIM:617810
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity ORPHA:228169
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Decreased body weight, Sensory ataxia, Cerebral atrophy, Babinski sign, Atrophy/Degeneration affe... ORPHA:445062
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Iron accumulation in substantia nigra, Abnor... ORPHA:329284
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Brain atrophy, Resting tremor, Myoclonus, Abnormal pyr... ORPHA:391411
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Impaired vibration sensation at ankles, ... OMIM:616795
Cerebrotendinous Xanthomatosis
Paraparesis, Abnormality of femur morphology, Ataxia, Axonal degeneration, Babinski sign, Optic a... ORPHA:909
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... OMIM:137440
Spinocerebellar Ataxia 4
Progressive cerebellar ataxia, Babinski sign, Distal sensory impairment, Limb dysmetria, Cerebell... OMIM:600223
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Adrenomyeloneuropathy
Dorsal column degeneration, Axonal degeneration, Atrophy/Degeneration involving the corticospinal... ORPHA:139399
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Machado-Joseph Disease Type 1
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Babinski... ORPHA:276238
Machado-Joseph Disease Type 2
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Babinski... ORPHA:276241
De Sanctis-Cacchione Syndrome
Hypertonia, Ataxia, Cerebral atrophy, Axonal degeneration, Babinski sign, Olivopontocerebellar at... OMIM:278800
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity, Small for gestational age OMIM:278780
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Synaptic Congenital Myasthenic Syndromes
Abnormal synaptic transmission at the neuromuscular junction, Decreased size of nerve terminals, ... ORPHA:98915
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Failure to thrive OMIM:618951
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Optic atrophy, Tremor, Choreoathetosis, Spasticity, Cerebellar atrophy, Dystonia OMIM:612438
Spinocerebellar Ataxia 2
Ataxia, Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Spasticity, Unsteady gait, Pos... OMIM:183090
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Kyphosis, Ataxia, Scoliosis, Optic atrophy, Tremor, Gait disturbance, Abnormal nerve... ORPHA:99014
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Orthostatic hypotension, Gait disturbance, Tremor OMIM:616710
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Spastic Paraplegia 39, Autosomal Recessive
Ataxia, Babinski sign, Gait disturbance, Atrophy of the spinal cord, Progressive spastic parapleg... OMIM:612020
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Kyphosis, Inability to walk, Cerebral atrophy, Paucity of anterior horn motor ne... OMIM:611890
Secondary Syringomyelia
Hyperintensity of MRI T2 signal of the spinal cord, Pseudobulbar paralysis, Progressive cerebella... ORPHA:99857
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Cerebral atrophy, Exaggerated startle response, Abnormal pyramidal sign, Neurodegener... OMIM:272750
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Abnormal lower motor neuron morphology,... ORPHA:2590
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Null Syndrome
Ataxia, Inability to walk, Abnormal cerebellum morphology, Decreased nerve conduction velocity, P... ORPHA:280234
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Neurodegeneration, Cerebellar atrophy ORPHA:438134
Progressive Supranuclear Palsy
Neuronal loss in central nervous system, Cerebral cortical atrophy, Blepharospasm, Bradykinesia, ... ORPHA:683
Variegate Porphyria
Paralysis OMIM:176200
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Ta... ORPHA:139485
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Cerebral atrophy, Upper limb spasticity, Upper limb dysmetria, Ankle clonus, Knee clonu... OMIM:614409
Spinocerebellar Ataxia 29
Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Dysm... OMIM:117360
Spinocerebellar Ataxia 26
Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Incoordination OMIM:609306
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Difficulty walking, Vocal cor... ORPHA:600
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Oculogyric crisis, Optic atrophy, Diffuse cerebral atrophy, Tremor, Difficulty... ORPHA:330050
Adult Krabbe Disease
Hemiplegia, Broad-based gait, Ataxia, Clumsiness, Abnormal pons morphology, Acroparesthesia, Hoff... ORPHA:206448
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Christianson Syndrome
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Adducted th... ORPHA:85278
Caribbean Parkinsonism
Action tremor, Cerebral cortical atrophy, Bradykinesia, Abnormal autonomic nervous system physiol... ORPHA:97355
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dilated fourth ventricle, Tremor, Diffuse cerebral ... ORPHA:1170
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Inabili... ORPHA:90117
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Fatigable weakness OMIM:254190
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Rigidity, Parkinsonism, Tremor, Chor... OMIM:261640
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Cere... ORPHA:71517
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Peripheral axonal neuropathy, Distal sensory impairment OMIM:616668
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor ORPHA:1368
Spinocerebellar Ataxia Type 3
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal... ORPHA:98757
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia, Parkinsonism, Pseudopapilledema, Hemiparesis, Tetraparesis, Paralysis ORPHA:140989
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Giant somatosensory evoked potentials, Tremor, Difficulty walking, Enhancement of the ... OMIM:613608
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Ataxia, Dysmetria, Cerebellar gliosis, Intention tremor, Myoclonus, Babinski sign, Pe... OMIM:616505
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Riboflavin Transporter Deficiency
Ataxia, Cerebral cortical atrophy, Abnormal autonomic nervous system physiology, Cachexia, Myoclo... ORPHA:97229
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... ORPHA:454887
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Peripheral axonal neuropath... ORPHA:401768
Cln5 Disease
Ataxia, Atrophy/Degeneration affecting the central nervous system, Cerebral cortical atrophy, Poo... ORPHA:228360
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Inability to walk, Exaggerated startle response, Ankle clonus, Babinski sign, Scoliosis... OMIM:609541
Ataxia-Oculomotor Apraxia 4
Oculomotor apraxia, Ataxia, Tetraplegia, Cerebellar atrophy OMIM:616267
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Spinocerebellar ataxia 27
Ataxia, Limb ataxia, Impaired vibratory sensation, Truncal ataxia, Sensory axonal neuropathy, Hea... OMIM:609307
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Cerebral atrophy, Dysmetria, Tremor, Titubation, Cerebellar atrophy, Unsteady gait OMIM:619405
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Cerebral cortical atrophy, Optic atrophy, Tremor, Spasticity OMIM:300983
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Gait imbalance, Loss of ambulation, Abnormal pyramidal sign, Scoliosis, Limb dysmetria, Fatigable... ORPHA:329336
Rabies
Paresthesia, Cerebral palsy, Vocal cord paresis ORPHA:770
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Babinski sign, Spasticity of facial muscles, Spastic dysarthria, Abnor... OMIM:606353
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Ataxia, Impaired vibration sensation at ankles, Limb ataxia, Poor coordination,... ORPHA:98772
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Brain atrophy, Cerebral cortical hemiatrophy, Parkinsonism, Hemiparesis, Hemiatroph... ORPHA:306669
Spinocerebellar Ataxia Type 29
Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, ... ORPHA:208513
Neurodegeneration With Brain Iron Accumulation 4
Oromandibular dystonia, Ataxia, Loss of ambulation, Babinski sign, Parkinsonism, Neurodegeneratio... OMIM:614298
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Bradykinesia, Babinski sign, Parkinsonism, Neurodegeneration, Chorea, Rigi... OMIM:606159
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Optic atrophy, Tremor, Gait disturbance, Choreo... ORPHA:391417
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations OMIM:183050
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Optic atrophy, Tremor, Spastic tetraparesis OMIM:619470
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Opisthotonus, Tip-toe gait, Frequent falls, Optic disc pallor, Gait disturbanc... ORPHA:216866
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... OMIM:619279
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Atrophy of the spinal cord, Cerebral cortical atrophy, Truncal ataxia, Spastic paraparesis OMIM:113610
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor, Weight loss OMIM:613239
Congenital Myopathy With Myasthenic-Like Onset
Gait disturbance, Fatigable weakness, Scoliosis ORPHA:424107
Spinocerebellar Ataxia 34
Ataxia, Cerebral cortical atrophy, Limb ataxia, Intention tremor, Dysdiadochokinesis, Abnormal py... OMIM:133190
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Spastic Ataxia, Charlevoix-Saguenay Type
Loss of Purkinje cells in the cerebellar vermis, Decreased number of large peripheral myelinated ... OMIM:270550
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Kyphosis, Hypertonia, Inability to walk, Blepharospasm, Oromandibular dystonia, Babi... OMIM:128100
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Motor axonal neuropathy, Kyphosis, Cerebral cortical atrophy, Ataxia, Dysmetria, Intention tremor... ORPHA:48431
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Abnormal autonomic nervous system physiology, Dysdiadochokinesis, Oculogyric crisis, Park... OMIM:618049
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Dopa-Responsive Dystonia
Leg dystonia, Inability to walk, Poor coordination, Abnormality of extrapyramidal motor function,... ORPHA:255
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scoliosis, Hyperlordosis, Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait OMIM:611067
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Hand tremor, Babinski sign, Parkinsonism, Rigidity, Optic atro... ORPHA:289560
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Postural tremor OMIM:606658
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Cerebral cortical atrophy, Loss of ambulation, Dysmetria, Babinski sign, Optic atrophy, T... OMIM:607694
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Broad-based gait, Kyphosis, Tip-toe gait, Babinski sign, Scoliosis, Hyperlordosis, Waddling gait,... OMIM:615290
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Ataxia, Weight loss OMIM:613662
Neuronal Intranuclear Inclusion Disease
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, R... OMIM:603472