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 1.87×10-08
increased startle reflex Uchl1tm1b(EUCOMM)Hmgu HET Early adult 1.48×10-05
increased circulating alkaline phosphatase level Uchl1tm1b(EUCOMM)Hmgu HET Early adult 1.62×10-06
hyperactivity Uchl1tm1b(EUCOMM)Hmgu HET   Early adult 8.10×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
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 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Embryo LacZ

LacZ images wholemount

8 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

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 23
Amyotrophic lateral sclerosis OMIM:617839
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 4, Juvenile
Diffuse axonal swelling, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, D... OMIM:602433
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Mononeuropathy Of The Median Nerve, Mild
Peripheral axonal neuropathy OMIM:613353
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... 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
Sensory ataxia, Babinski sign, Ataxia OMIM:256860
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608030
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Impaired tactile sensation, Motor axonal neuropathy, Gait disturban... ORPHA:98765
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Steppage gait, Toe walking, Impaired distal vibration ... OMIM:614436
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Decreased motor nerve conduction velocity, Hand tremor, Difficulty walkin... OMIM:302800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis OMIM:613954
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Optic atrophy, Babinski sign OMIM:311050
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Huntington Disease-Like 2
Dystonia, Chorea, Gait disturbance, Weight loss, Cerebral cortical atrophy, Parkinsonism, Involun... ORPHA:98934
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Cerebral atro... OMIM:615157
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
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
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Corpus callosum atrophy, Cerebral atrophy, Cerebellar atrophy OMIM:615268
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Degeneration of anterior horn cells, Decreased number of peripheral myelinated ... OMIM:604484
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Difficulty walking, Peripheral hy... OMIM:605285
Myasthenic Syndrome, Congenital, 15
Difficulty walking, Fatigable weakness, Frequent falls OMIM:616227
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Congenital Myasthenic Syndromes With Glycosylation Defect
Scoliosis, Difficulty walking, Lumbar hyperlordosis, Fatigable weakness, Abnormal peripheral nerv... ORPHA:353327
Spinocerebellar Ataxia 41
Unsteady gait, Cerebellar atrophy, Ataxia OMIM:616410
Diaminopentanuria
Neurodegeneration, Ataxia, Spasticity OMIM:222350
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Ataxia, Paralysis, Myoclonus, Babinski sign, Choreoat... OMIM:606777
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait OMIM:605388
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Tremor, Neurodegeneration, Ataxia, Cerebellar atrophy, Spasticity OMIM:615889
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells ORPHA:65684
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Diffuse cerebellar atrophy, Ataxia, Somatic sensory dysfunction, ... ORPHA:101010
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, R... OMIM:617018
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia, Cerebellar vermis atrophy ORPHA:211017
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Cerebellar atrophy, Dysmetria, Limb fascic... OMIM:606183
Amyotrophic Lateral Sclerosis
Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigable we... ORPHA:803
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Gait ataxia, Truncal ataxia, Tremor, Axonal degeneration, Limb ataxia, Oculomotor aprax... OMIM:208920
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... OMIM:601596
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Degeneration of anterior horn cells, Amyotrophi... OMIM:105400
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Gait disturbance, Distal sensory impairment, Talipes equinovarus, Axonal degeneration OMIM:616155
Episodic Ataxia, Type 1
Episodic ataxia, Tremor, Incoordination, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Difficulty walking, Paralysis, Peripheral axonal neuropathy, Talipes equinovarus OMIM:613710
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Upper limb spasticity, Spastic tetraparesis, Abnormal lower motor neuron morphology, Am... OMIM:205100
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Spinal Muscular Atrophy, Type Iv
Degeneration of anterior horn cells OMIM:271150
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Autosomal Recessive Spastic Paraplegia Type 32
Difficulty walking, Impaired vibration sensation in the lower limbs, Babinski sign, Cerebellar co... ORPHA:171622
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mitochondrial Dna Depletion Syndrome 18
Falls, Failure to thrive, Clonus, Tongue fasciculations, Axonal degeneration OMIM:618811
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Cerebellar atrophy, Frequent falls OMIM:615945
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Decreased number of peripheral myelinated nerve fibers, Vocal cord paralysis, ... OMIM:615490
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Abnormal pyramidal sign, Cerebral... OMIM:617672
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction, Cerebellar atrophy ORPHA:423296
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Metaphyseal chondrodysplasia, Gait disturbance, Babinski sign, Diffus... OMIM:300660
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Peripheral axonal neuropathy, Babinski sign, Spasticity OMIM:611105
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy, Spasticity ORPHA:217012
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Cerebellar hypoplasia, Ataxia OMIM:213000
Porphyria, Acute Hepatic
Paralysis, Paresthesia, Failure to thrive, Respiratory paralysis OMIM:612740
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells OMIM:253550
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:615957
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Scoliosis, Tremor, Difficulty walking, Degeneration of anterior horn cells, Tongue fasciculations... OMIM:159950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Myoclonus, Extra... ORPHA:71277
Spinocerebellar Ataxia Type 23
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Dys... ORPHA:101108
Mental Retardation, Autosomal Dominant 33
Scoliosis, Hyperactivity OMIM:616311
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:117210
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Weight loss, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:248111
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Diffuse cerebellar... ORPHA:363710
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Ravine Syndrome
Decreased body weight, Ataxia, Abnormal auditory evoked potentials, Abnormal brainstem morphology... ORPHA:99852
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis, Decreased size of nerve terminals, Fatigable weakness, Prolonged miniat... OMIM:603034
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral demyelination, Split hand, Chorea, Peripher... OMIM:604168
Spinocerebellar Ataxia, Autosomal Recessive 24
Limb ataxia, Spastic gait, Gait ataxia, Cerebellar atrophy OMIM:617133
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Lower limb spasticity, Cerebellar... OMIM:616948
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria OMIM:616291
Spastic Ataxia-Corneal Dystrophy Syndrome
Aplasia/Hypoplasia of the cerebellum, Spinocerebellar tract degeneration, Spastic ataxia, Gait di... ORPHA:2572
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Spasticity, Ankle clonus, Abnormal cerebel... OMIM:270500
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... DECIPHER:29
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Dysmetria, Distal ... OMIM:618387
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... OMIM:117360
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Sensory axonal neuropathy, Cerebellar atroph... OMIM:607458
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Cerebral degeneration, Ataxia OMIM:260970
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Cerebellar atrophy, Uns... OMIM:615768
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Amyotrophic lateral sclerosis OMIM:300857
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Difficulty walking, Kyphosis, Peripheral axonal neuropathy, Optic atrophy, Optic disc ... OMIM:617087
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnormal cerebe... OMIM:615362
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic paraparesis, Gait disturbance, Neurodegeneration, Toe walking, Bradykinesia, Sp... OMIM:615643
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Positive Romberg sign, Gait ataxia, Gait disturbance, Camptodactyly, Ataxia, Abnormal sensory ner... ORPHA:88628
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Inten... OMIM:616053
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Ataxia, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Myo... OMIM:600143
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Impaired pain sensation, Hand tremor, Impaired vibratory sensation, Paresthesia,... ORPHA:99947
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Parkinsonism, Substantia nigr... OMIM:600116
Cerebellar Ataxia And Albinism
Head tremor, Olivopontocerebellar atrophy, Ataxia OMIM:258300
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Cerebellar atrophy, Dysmetria, Intention... OMIM:613908
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Stereotypy, Atrophy/Degeneration a... OMIM:617862
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Paraparesis, Cerebral atrophy, Tetraparesis, Abnormal lower motor neuron morphology, Amy... OMIM:105550
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... ORPHA:423275
Spinal Muscular Atrophy, Type Iii
Degeneration of anterior horn cells OMIM:253400
X-Linked Progressive Cerebellar Ataxia
Dysdiadochokinesis, Clumsiness, Spinocerebellar tract degeneration, Progressive gait ataxia, Limb... ORPHA:1175
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... OMIM:610245
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, H... OMIM:609260
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Axonal degeneration, Peripheral axonal degeneration, Decreased number of peripheral myelinated ne... OMIM:608720
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Diaphragmatic paralysis, Degeneration of anterior horn cells, Small for ... OMIM:604320
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... OMIM:210000
Neuronopathy, Distal Hereditary Motor, Type Viib
Facial palsy, Vocal cord paralysis, Abnormal lower motor neuron morphology OMIM:607641
Immunodeficiency 8
Hyperactivity OMIM:615401
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia, Cerebral cortical atrophy, Parkinsonism, Babinski sign OMIM:615911
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
Myasthenic Syndrome, Congenital, 13
Scoliosis, Fatigable weakness OMIM:614750
Ceroid Lipofuscinosis, Neuronal, 4A (Kufs Type), Autosomal Recessive
Abnormality of extrapyramidal motor function, Cerebral atrophy, Ataxia, Increased neuronal autofl... OMIM:204300
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Tremor, Ataxia, Spasticity OMIM:616494
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Cerebral atrophy, Ataxia, Neurodegeneration OMIM:610951
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Gait ataxia, Tremor, Ataxia, Peripheral axonal neuropathy, Myoclonus, Babinski sign, Fa... OMIM:607317
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents, Decreased size of nerve terminals OMIM:601462
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Spastic paraplegia, Upper limb spasticity, Gait disturbance, Kyphosis, Lower limb spas... OMIM:611225
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Tremor, Myoclonus, Ataxia OMIM:616187
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Cachexia, Dysmet... OMIM:618093
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Scoliosis, Decreased miniature endplate potentials, Facial palsy OMIM:608930
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Limb tremor, Lower limb spasticity, Spastic gait, Cerebral cortical atrophy, ... ORPHA:401820
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Abnormality of extrapyramidal motor function, Ataxia, Increased neuronal autofluorescent lipopigm... OMIM:162350
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Facial diplegia, Paralysis, Cerebral atrophy OMIM:616286
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Spastic paraparesis, Difficulty walking, Spastic tetraparesis, Neur... OMIM:612319
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy OMIM:141500
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Scoliosis, Dystonia, Axial dystonia, Difficulty walking, Upper limb spasticity... ORPHA:300605
Epilepsy, Progressive Myoclonic, 1B
Sensory axonal neuropathy, Tremor, Babinski sign, Dysmetria OMIM:612437
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Abnormality of the vertebral column, Motor axonal neuropathy, Amyotrophic lateral ... ORPHA:52430
Myasthenic Syndrome, Congenital, 6, Presynaptic
Fatigable weakness, Decreased miniature endplate potentials, Generalized hypotonia due to defect ... OMIM:254210
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Tortico... OMIM:614860
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Waddling gait, Axonal degeneration, Decreased nerve conduction velocity OMIM:618138
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Gait ataxia, Kinetic tremor, Cerebellar Purkinje layer atrophy, Abnorm... ORPHA:98756
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Cerebellar atrophy, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Striatal Degeneration, Autosomal Dominant 1
Dysdiadochokinesis, Gait disturbance, Bradykinesia, Degeneration of the striatum, Rigidity OMIM:609161
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Ankle clonus, Cerebellar atro... OMIM:617013
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Fascic... OMIM:613728
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Dystonia, Temporal cortical atrophy, Frontal cortical atrophy, Gait disturbance, Back pain, Amyot... OMIM:167320
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... OMIM:611302
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Cerebellar atrophy, Giant somatosensory evoked potentials, ... OMIM:618876
Huntington Disease-Like 2
Dystonia, Chorea, Action tremor, Weight loss, Bradykinesia, Rigidity OMIM:606438
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Action tremor, U... ORPHA:314978
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:608029
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Cerebral atrophy, Ataxia, Myoclonus, Hyp... OMIM:615924
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... OMIM:610185
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Horner Syndrome, Congenital
Paralysis OMIM:143000
Spinocerebellar Ataxia Type 17
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... ORPHA:98759
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Ataxia, Increased neuronal... OMIM:204500
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Falls, Par... ORPHA:306692
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Stereotypy, Babinski sign, Amyotrophic lateral sclerosis, Spasticity OMIM:612069
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait, Dysmetria OMIM:616127
Neuroectodermal Melanolysosomal Disease
Tremor, Cerebral cortical hemiatrophy, Hypertonia, Cerebellar hypoplasia, Ataxia, Subcortical cer... ORPHA:33445
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Axonal loss, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Tong... OMIM:618170
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Cerebral atrophy, Bradykinesia, Ankle clonus, Progressive inability to walk, Ce... ORPHA:521406
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Hypertonia, Poor fine motor coordination, Progressive inability to walk, Upper motor ... ORPHA:137898
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Decreased number of periph... OMIM:180800
Amyotrophic Lateral Sclerosis 8
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608627
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Somatic sensory dysfunction, Cer... ORPHA:98763
Spinocerebellar Ataxia 46
Positive Romberg sign, Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria OMIM:617770
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Fatigable weakness, Decreased miniature endplate potentials, Generalized hypotonia due to defect ... OMIM:605809
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Ce... OMIM:604326
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Degeneration of anterior horn cells OMIM:600333
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Ankle clonus, Ataxia, Spastic gait, Lower limb spasticity, Cerebellar atrophy... OMIM:610357
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor OMIM:302500
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia ORPHA:640
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Cerebral atrophy, Tetraparesis, Head titubation, Ankle clonus, Ataxia, Neurod... OMIM:615491
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Gait ataxia, Cachexia, Weight loss OMIM:612075
Pontocerebellar Hypoplasia, Type 1A
Fasciculations, Degeneration of anterior horn cells, Ataxia OMIM:607596
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Cerebral atrophy, Bradykinesia, Action tremor, Cerebellar atrophy, Par... OMIM:300423
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Gait ataxia, Limb ataxia, Kyphosis, Ataxia, Cerebellar atrophy, Peripheral axonal neur... OMIM:610743
Epilepsy, Progressive Myoclonic, 6
Scoliosis, Tremor, Difficulty walking, Ataxia, Elevated circulating creatine kinase concentration OMIM:614018
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Vocal cord paresis, Sensory ataxia, Basal lamina onion... OMIM:614895
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Ataxia, Dilated fourth ventricle, Torticollis, Sensory axonal neuropathy, Cerebellar vermis atrop... OMIM:619054
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Unsteady gait... OMIM:617633
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Gait ataxia, Tremor, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Tremor, Clumsiness, Abnormality of extrapyramidal motor fun... ORPHA:79262
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... ORPHA:216873
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... ORPHA:95434
Neurodegeneration With Brain Iron Accumulation 7
Loss of ability to walk, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity OMIM:617916
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Cerebellar hypoplasia, Ataxia, Unsteady gait, D... OMIM:213200
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Tremor, Abnormal nerve conduction velocity, Gait disturbance, Kyphosis, Ataxia ORPHA:101075
Tuberculosis
Weight loss ORPHA:3389
Spinal Muscular Atrophy, Jokela Type
Tremor, Difficulty walking, Distal sensory impairment, Fasciculations, Hammertoe OMIM:615048
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... OMIM:128230
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Distal sensory impairment, Talipes equinovarus, ... OMIM:616719
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Vocal cord paresis, Split hand, Decreased number of pe... OMIM:607706
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Optic atrophy, Obesity OMIM:614947
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Decreased motor nerve conduction velocity, Spastic paraparesis, Diffic... ORPHA:101077
Amyotrophy, Hereditary Neuralgic
Axonal degeneration, Peripheral axonal degeneration OMIM:162100
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Cerebellar atrophy ORPHA:284271
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Oliv... OMIM:164500
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Gait ataxia, Truncal ataxia, Head tremor, Abnormal pyramidal sign, Cerebral atrophy, Progressive ... ORPHA:352641
Machado-Joseph Disease Type 3
Dystonia, Clumsiness, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor fun... ORPHA:276244
Huntington Disease
Inability to walk, Dystonia, Decreased body mass index, Clumsiness, Difficulty walking, Chorea, G... ORPHA:399
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Lopes-Maciel-Rodan Syndrome
Scoliosis, Tremor, Dystonia, Kyphosis, Hypertonia, Abnormal pyramidal sign, Cerebral atrophy, Bra... OMIM:617435
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Peripheral axonal neuropathy, Ataxia OMIM:619099
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Cerebellar atrophy, Increased neuronal autofluorescent li... OMIM:256731
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Retr... OMIM:614831
Gm2-Gangliosidosis, Ab Variant
Dystonia, Chorea, Hypertonia, Abnormal pyramidal sign, Spastic tetraparesis, Cerebral atrophy, Pa... OMIM:272750
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... ORPHA:284324
Roussy-Lévy Syndrome
Genu valgum, Postural tremor, Gait ataxia, Clumsiness, Decreased motor nerve conduction velocity,... ORPHA:3115
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Decreased motor nerve conduction velocity, Gait disturbance, Abnormality of t... ORPHA:139578
Rabies
Cerebral palsy, Vocal cord paresis, Paresthesia, Attention deficit hyperactivity disorder ORPHA:770
Combined Oxidative Phosphorylation Deficiency 29
Dystonia, Global brain atrophy, Cerebellar atrophy, Optic neuropathy, Optic atrophy, Axonal degen... OMIM:616811
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Choreoathetosis, Tremor, Chorea, Neurodegeneration, Blepharospasm, Ataxia, Bradykinesia... OMIM:606159
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Scoliosis, Dystonia, Kyphosis, Cerebral atrophy, Ataxia, Lumbar hyperlordosis,... OMIM:616756
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Tremor, Clumsiness, Chorea, Poor fine motor coordination, Cerebral atrophy, Ataxia, Bra... ORPHA:79263
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic paraplegia, Dystonia, Knee clonus, Ataxia, Ankle clonus, Spastic gait, Lower limb spastic... OMIM:607565
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Chorea, Gait disturbance, Slurred speech, Abnormal... ORPHA:98755
Spinal Muscular Atrophy, X-Linked 2
Scoliosis, Tongue fasciculations, Facial palsy, Degeneration of anterior horn cells OMIM:301830
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Tremor, Spastic paraparesis, Cerebral atrophy, Abnormal autonomic nervous system physio... ORPHA:329284
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Impaired tandem gait, Cerebellar atrophy, Lower limb spasticity, Myoclonus, Dysme... OMIM:619028
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Poor coordination, Neurodegeneration, Abnormal ... ORPHA:478029
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Abnormal sensory nerve conduction velocity, Impaired... ORPHA:276435
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Gait disturbance, Poor fine motor coordination, ... ORPHA:157941
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Cere... OMIM:609270
Isaac Syndrome
Weight loss, Distal sensory impairment ORPHA:84142
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Gait ataxia, Apraxia, Cerebellar hypoplasia, Cerebellar atrophy, Dysme... OMIM:617810
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Peripheral demyelination, Spastic ataxia, Chorea, Erratic myoclonus, Abnorma... ORPHA:397946
Spinocerebellar Ataxia Type 26
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar a... ORPHA:101112
Acute Peripheral Arterial Occlusion
Paresthesia, Paralysis, Impaired distal tactile sensation ORPHA:90064
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Tremor, Gait disturbance, Kyphosis, Ataxia, Decreased nerve conduction velocity ORPHA:101078
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Difficulty walking, Cerebe... ORPHA:98
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Abnormal upper motor neuron morphology, Spastic gait, Babinski sign, Spasti... OMIM:611637
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Gait disturbance, Slurred speech, A... ORPHA:93952
Variegate Porphyria
Paralysis OMIM:176200
Postsynaptic Congenital Myasthenic Syndromes
Scoliosis, Fatigable weakness of respiratory muscles, Decreased size of nerve terminals, Thoracic... ORPHA:98913
Juvenile Primary Lateral Sclerosis
Spastic tetraparesis, Abnormal pyramidal sign, Abnormal upper motor neuron morphology, Spastic ga... ORPHA:247604
Pulmonary Blastoma
Weight loss ORPHA:64741
Ataxia-Oculomotor Apraxia 4
Dystonia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Tetraplegia OMIM:616267
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Degeneration of the lateral corticospinal tracts, Tremor, Lower limb spastici... OMIM:600363
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:606070
Glutathionuria
Tremor OMIM:231950
Myasthenic Syndrome, Congenital, 14
Scoliosis, Fatigable weakness, Hyperlordosis, Waddling gait OMIM:616228
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Cerebrotendinous Xanthomatosis
Dystonia, Abnormality of tibia morphology, Abnormality of extrapyramidal motor function, Palatal ... ORPHA:909
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... OMIM:616204
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Sensory ataxia, Gait ataxia, Cerebral atrophy, Atrophy of the spinal cord, Decreased body weight,... ORPHA:445062
Myasthenic Syndrome, Congenital, 16
Hyperlordosis, Fatigable weakness, Gait disturbance OMIM:614198
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Myoclonus OMIM:612016
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Cachexia, Weight loss OMIM:613662
Gerstmann-Straussler Disease
Tremor, Gait ataxia, Truncal ataxia, Apraxia, Limb ataxia, Weight loss, Bradykinesia, Cerebellar ... OMIM:137440
Parkinson Disease 14, Autosomal Recessive
Dystonia, Apraxia, Clumsiness, Tremor, Global brain atrophy, Bradykinesia, Frontotemporal cerebra... OMIM:612953
Ataxia-Oculomotor Apraxia 3
Oculomotor apraxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Frequent falls OMIM:615217
Spinocerebellar Ataxia Type 3
Dystonia, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Prog... ORPHA:98757
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Myasthenic Syndrome, Congenital, 12
Fatigable weakness, Facial palsy, Waddling gait OMIM:610542
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Tremor, Ataxia OMIM:618951
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Limb ataxia, Chorea, Ataxia, Bradykinesia,... OMIM:607136
Spinocerebellar Ataxia 4
Limb dysmetria, Progressive cerebellar ataxia, Cerebellar atrophy, Babinski sign, Distal sensory ... OMIM:600223
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Frequent falls, Spasticity OMIM:617691
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... ORPHA:464440
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Cerebral cortical atrophy, Hyperactivity, Optic atrophy, Spasticity OMIM:300983
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Chorea, Paroxysmal dyskinesia, Ataxia, Lower limb spasti... ORPHA:98811
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Gait ataxia, Choreoathetosis, Cogwheel rigidity, Atrophy/Degeneration involving the cau... ORPHA:225154
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Adrenomyeloneuropathy
Dysesthesia, Abnormality of peripheral nervous system electrophysiology, Atrophy/Degeneration inv... ORPHA:139399
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... OMIM:162500
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Tremor, Abnormal nerve conduction velocity, Gait disturbance, Kyphosis, Paraparesis, A... ORPHA:99014
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Abnormality of the distal phalanx of the thumb, Dystonia, Gait ataxia, Truncal ataxia, Clumsiness... ORPHA:453521
Machado-Joseph Disease Type 1
Dystonia, Clumsiness, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor fun... ORPHA:276238
Machado-Joseph Disease Type 2
Dystonia, Clumsiness, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor fun... ORPHA:276241
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Atrophy of the spinal cord, Ataxia, Cerebellar atrophy, Babinski sign, Progress... OMIM:612020
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Park... OMIM:619279
Parkinson Disease 22, Autosomal Dominant
Tremor, Orthostatic hypotension, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Talipes cavus equinovarus, Dystonia, Tremor, Abnormal pyramidal sign, Progressive cerebellar atax... ORPHA:139485
Myasthenic Syndrome, Congenital, 10
Fatigable weakness, Facial palsy, Waddling gait OMIM:254300
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Spastic paraplegia, Limb dysmetria, Head tremor, Upper limb spasticity, Kyphosis, Knee... OMIM:614409
Leukodystrophy, Hypomyelinating, 6
Dystonia, Choreoathetosis, Tremor, Ataxia, Cerebellar atrophy, Optic atrophy, Rigidity, Spasticity OMIM:612438
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Tremor, Difficulty walking, Hemiatrophy, Hemiparesis, Bradykinesia, Brain atrophy, Park... ORPHA:306669
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... ORPHA:228360
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Abnormality of the seventh cranial nerve, Tremor, Somatic sensory dysfunction,... ORPHA:90117
Jaberi-Elahi Syndrome
Inability to walk, Dystonia, Gait ataxia, Tremor, Cerebellar atrophy, Dysmetria, Failure to thriv... OMIM:617988
Adult Krabbe Disease
Hemiplegia, Hoffmann sign, Clumsiness, Progressive spastic paraparesis, Prolonged brainstem audit... ORPHA:206448
Spinocerebellar Ataxia 26
Gait ataxia, Truncal ataxia, Incoordination, Limb ataxia, Cerebellar atrophy OMIM:609306
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Gait ataxia, Neurodegeneration ORPHA:438134
Hypokalemic Periodic Paralysis
Fatigable weakness of respiratory muscles, Periodic hypokalemic paresis, Paralysis, Respiratory p... ORPHA:681
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... ORPHA:1170
Caribbean Parkinsonism
Dystonia, Apraxia, Autonomic bladder dysfunction, Orthostatic hypotension, Progressive gait ataxi... ORPHA:97355
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Scoliosis, Dystonia, Abnormal anterior horn cell morphology, Facial diplegia, ... OMIM:611890
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Peripheral axonal neuropathy, Distal sensory impairment OMIM:616668
Christianson Syndrome
Aplasia/Hypoplasia of the cerebellum, Dystonia, Gait ataxia, Truncal ataxia, Cerebral cortical at... ORPHA:85278
Null Syndrome
Inability to walk, Peripheral demyelination, Difficulty walking, Progressive spastic quadriplegia... ORPHA:280234
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia, Decreased nerve conduction velocity ORPHA:1368
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... OMIM:133190
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Abnormal lower motor... ORPHA:2590
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Choreoathetosis, Tremor, Hypertonia, Ataxia, Bradykinesia, Small for gestational age, P... OMIM:261640
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Spinocerebellar Ataxia 27
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Head tremor, Limb ata... OMIM:609307
Primary Angiitis Of The Central Nervous System
Paraparesis, Tetraparesis, Hemiparesis, Paralysis, Ataxia, Pseudopapilledema, Parkinsonism ORPHA:140989
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis, Difficulty walking, Amyotrophic lateral sclerosis, Unsteady gait, Decreased n... ORPHA:600
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Autosomal Recessive Spastic Paraplegia Type 46
Truncal ataxia, Corpus callosum atrophy, Difficulty walking, Head tremor, Upper limb spasticity, ... ORPHA:320391
Riboflavin Transporter Deficiency
Tremor, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Ataxia, ... ORPHA:97229
Synaptic Congenital Myasthenic Syndromes
Scoliosis, Frequent falls, Decreased size of nerve terminals, Abnormal synaptic transmission at t... ORPHA:98915
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Gait disturbance, Toe walking, Weight loss, Opisthotonus, Optic disc pallor, G... ORPHA:216866
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinocerebellar Ataxia Type 19/22
Cogwheel rigidity, Truncal ataxia, Difficulty walking, Limb ataxia, Slurred speech, Poor coordina... ORPHA:98772
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Cerebe... OMIM:616505
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Craniofacial dystonia, Bradykinesia, Torticollis, Cerebellar atrophy... ORPHA:71517
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Gait ataxia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Cerebellar vermi... ORPHA:208513
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Gait disturbance, Ataxia, Frontotemporal cerebral atrophy,... ORPHA:391417
Glut1 Deficiency Syndrome 2
Dystonia, Tremor, Cerebral atrophy, Ataxia, Choreoathetosis OMIM:612126
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Involuntary movements, Parkinsonism with favorable response to dop... ORPHA:240103
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Fasciculations, Rigidity, Spasticity OMIM:183050
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Tremor, Difficulty walking, Oculogyric crisis, Cerebellar atrophy, D... ORPHA:330050
Primary Lateral Sclerosis, Juvenile
Spastic tetraparesis, Spasticity of pharyngeal muscles, Abnormal upper motor neuron morphology, S... OMIM:606353
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Difficulty walking, Giant somatosensory evoked potentials, Myoclonus, Enhancement of the ... OMIM:613608
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Swan neck... OMIM:270550
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Dystonia, Dense calcifications in the cerebellar dentate nucleus, Limb dysmet... OMIM:213600
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy OMIM:606658
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Spastic paraparesis, Hand tremor, Gait disturbance, Bradykinesia, Abnormal substantia n... ORPHA:289560
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Motor axonal neuropathy, Intention tremor, Kyphosis, Abnormal pyramidal sign, Ataxia, ... ORPHA:48431
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Action tremor, Ataxia, Broad-based gait ORPHA:210128
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Global brain atrophy, Senile plaques, Spastic hemiparesis, Slurr... ORPHA:282166
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Cerebral atrophy, Ataxia OMIM:618637
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Truncal ataxia, Spastic paraparesis, Palatal myoclonus, Atrophy of the spinal cord, Cerebral cort... OMIM:113610
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Hyperactivity ORPHA:85288
Adult-Onset Autosomal Dominant Leukodystrophy