Gene Summary

Name:
dystonin
Synonyms:
BPAG1,  nmf203,  2310001O04Rik,  A830042E19Rik,  bullous pemphigoid antigen 1,  Bpag1,  Macf2,  athetoid,  Bpag,  nmf339,  BPAG1-n,  ah

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
unresponsive to tactile stimuli Dsttm1b(EUCOMM)Wtsi HOM E18.5 0.00
persistence of hyaloid vascular system Dsttm1b(EUCOMM)Wtsi HET   Early adult 4.04×10-05
unresponsive to tactile stimuli Dsttm1b(EUCOMM)Wtsi HET E18.5 0.00
abnormal embryo size Dsttm1b(EUCOMM)Wtsi HET E18.5 0.00
preweaning lethality, incomplete penetrance Dsttm1b(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  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)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  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)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skeletal muscle  Wholemount images heterozygote 100% (2 of 2)
Skin  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)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Trigeminal V nerve  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
White adipose tissue  Wholemount images heterozygote 50% (1 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node 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)
Pituitary gland N/A heterozygote Not available
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

25 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

VIP of left fundus

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of right eye

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

7 Images

Immunophenotyping

Panel A FCS file(s)

7 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Epidermolysis Bullosa Simplex 3, Localized Or Generalized Intermediate, With Bp230 Deficiency
Atrophic scars, Nail dystrophy OMIM:615425
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Blotching pigmentation of the skin OMIM:614653

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Neuropathy, Hereditary Sensory, Atypical
Babinski sign, Sensory ataxia, Ataxia OMIM:256860
Mononeuropathy Of The Median Nerve, Mild
Peripheral axonal neuropathy OMIM:613353
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Autosomal Dominant Focal Dystonia, Dyt25 Type
Focal dystonia, Axial dystonia, Craniofacial dystonia, Limb dystonia, Laryngeal dystonia, Tortico... ORPHA:329466
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation, Decreased nerve conduction velocity OMIM:608236
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Involuntary movements, Chorea OMIM:616939
Dystonia 25
Torticollis, Laryngeal dystonia, Lingual dystonia, Limb dystonia OMIM:615073
Primary Dystonia, Dyt17 Type
Torticollis, Craniofacial dystonia, Generalized dystonia ORPHA:370103
Guillain-Barre Syndrome, Familial
Acute demyelinating polyneuropathy OMIM:139393
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Posterior Column Ataxia
Ataxia, Impaired proprioception, Impaired vibratory sensation OMIM:176250
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Clumsiness, Episodic ataxia, Parkinsonism with favorable response to dopaminergic medication OMIM:168885
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Ataxia, Abasia OMIM:209100
Dystonia 6, Torsion
Torsion dystonia, Limb dystonia, Laryngeal dystonia, Torticollis, Lingual dystonia, Writer's cram... OMIM:602629
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Myelin outfoldings, Onion bulb formation, Clust... OMIM:607734
Dystonia 4, Torsion, Autosomal Dominant
Torsion dystonia, Generalized dystonia, Slender build, Limb dystonia, Gait ataxia, Torticollis OMIM:128101
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Dystonia, Focal, Task-Specific
Writer's cramp OMIM:611284
Spastic Ataxia With Congenital Miosis
Hemiplegia/hemiparesis, Seizure, Ataxia, Spastic ataxia ORPHA:1182
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Laryngeal dystonia, Dystonia, Spastic paraplegia, Difficulty walking OMIM:619681
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb form... OMIM:606482
Spinocerebellar Ataxia Type 4
Impaired proprioception, Impaired vibratory sensation, Impaired tactile sensation, Ataxia, Gait d... ORPHA:98765
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Demyelinating sensory neuropathy, Symmetrical progressive peripheral demyelination, Demyelinating... ORPHA:208981
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Torticollis OMIM:611694
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Dystonia 32
Torticollis, Laryngeal dystonia, Brain atrophy, Limb dystonia OMIM:619637
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Segmental peripheral demye... OMIM:601098
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Dystonia 30
Dystonia, Loss of ability to walk, Leg dystonia, Diffuse cerebral atrophy, Torticollis, Writer's ... OMIM:619291
Angelman syndrome (Type 2)
Truncal ataxia, Seizure DECIPHER:54
Angelman syndrome (Type 1)
Truncal ataxia, Seizure DECIPHER:4
Episodic Ataxia, Type 7
Episodic ataxia OMIM:611907
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia
Episodic ataxia ORPHA:1179
Neuhauser-Eichner-Opitz Syndrome
Rigidity, Spasticity, Ataxia, Hypertonia ORPHA:2672
Dystonia 33
Spasticity, Dystonia, Limb dystonia, Axial dystonia OMIM:619687
Myoclonus, Familial, 1
Frequent falls, Falls, Ataxia, Myoclonus OMIM:614937
Optic Atrophy With Demyelinating Disease Of Cns
CNS demyelination, Peripheral demyelination, Optic atrophy OMIM:165200
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Foot dorsiflexor weakness, Segmental peripheral demyelination/remyelination, Onion bulb formation... OMIM:606483
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Primary Dystonia, Dyt21 Type
Dystonia, Generalized dystonia, Focal dystonia, Axial dystonia, Blepharospasm, Limb dystonia, Lar... ORPHA:306734
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Anal Sphincter Dysplasia
Encopresis, Constipation, Bowel incontinence, Chronic constipation, Diarrhea OMIM:105563
Amyotrophic Dystonic Paraplegia
Urinary incontinence, Bowel incontinence, Dystonia OMIM:105300
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Spinocerebellar Ataxia Type 23
Dysmetria, Impaired proprioception, Gait ataxia, Progressive cerebellar ataxia, Impaired distal v... ORPHA:101108
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Primary Dystonia, Dyt6 Type
Dystonia, Generalized dystonia, Blepharospasm, Craniofacial dystonia, Limb dystonia, Laryngeal dy... ORPHA:98806
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onio... OMIM:180800
Dystonia 23
Cerebellar atrophy, Axial dystonia, Head tremor, Limb dystonia, Cerebral cortical atrophy, Gait d... OMIM:614860
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Generalized dystonia, Focal dystonia, Craniofacial dys... ORPHA:98807
Hinman Syndrome
Constipation, Hydronephrosis, Enuresis, Recurrent urinary tract infections, Renal insufficiency, ... ORPHA:84085
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration, Upper limb mu... OMIM:607791
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Ataxia OMIM:618384
Charcot-Marie-Tooth Disease Type 2B1
Hand muscle atrophy, Shoulder girdle muscle atrophy, Proximal muscle weakness in lower limbs, Per... ORPHA:98856
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait OMIM:616410
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Foot dorsiflexor weakness, Axonal degeneration, Steppage gait, Ax... OMIM:614436
Paroxysmal Kinesigenic Dyskinesia
Dystonia, Involuntary movements, Athetosis, Chorea, Writer's cramp ORPHA:98809
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Paroxysmal dystonia, Torticollis OMIM:118800
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Episodic Kinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Paroxysmal dystonia OMIM:128200
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Ataxia OMIM:617769
Striatonigral Degeneration, Infantile
Failure to thrive, Spasticity, Dystonia, Choreoathetosis OMIM:271930
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Striatonigral Degeneration, Childhood-Onset
Dystonia, Loss of ability to walk, Craniofacial dystonia, Unsteady gait, Hypertonia OMIM:617054
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Peripheral demyelination, Skeletal muscle atrophy, Decreased number of large peripheral myelinate... OMIM:614895
Spinocerebellar Ataxia Type 43
Foot dorsiflexor weakness, Cerebellar vermis atrophy, Decreased number of large peripheral myelin... ORPHA:497764
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Onion bulb formation OMIM:615185
Dystonia 15, Myoclonic
Dystonia, Writer's cramp OMIM:607488
Dystonia 31
Parkinsonism, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Abnormal posturing, Diff... OMIM:619565
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Upper limb muscle weakness, Axonal degene... OMIM:607677
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Proximal muscle weakness in upper limbs, Distal lowe... ORPHA:101097
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating sensory neuropathy, Onion bulb formation, Demyelinating motor neuropathy OMIM:182815
Spinocerebellar Ataxia Type 30
Gait ataxia, Limb ataxia ORPHA:211017
Episodic Ataxia, Type 8
Episodic ataxia, Ataxia, Slurred speech, Intention tremor OMIM:616055
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Dystonia, Inability to walk, Athetosis, Ataxia, Abnormality of extrapyramidal motor function OMIM:615159
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Foot dorsiflexor weakness, Onion bulb formation, Decreased number of peripheral myelinated nerve ... OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Foot dorsiflexor weakness, Decreased number of peripheral myelinated nerve fibers, Axonal regener... OMIM:607731
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Developmental And Epileptic Encephalopathy 38
Generalized hypotonia, Dystonia, Ataxia, Hypertonia OMIM:617020
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... OMIM:601596
Cataract-Ataxia-Deafness-Retardation Syndrome
Distal sensory impairment, Ataxia OMIM:212710
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Gait ataxia, Limb ataxia ORPHA:284282
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Encephalopathy, Recurrent, Of Childhood
Incoordination, Choreoathetosis, Intention tremor, Athetosis, Chorea, Truncal ataxia, Babinski sign OMIM:130950
Hydrocephalus, Normal-Pressure, 1
Urinary incontinence, Bowel incontinence OMIM:236690
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Distal sensory impairment, Foot dorsiflexor weakness, Onion bulb formation OMIM:616039
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Peripheral demyelination, Spontaneous pain sensation, Segmental peri... ORPHA:2932
Cerebellar Ataxia And Albinism
Albinism, Head tremor, Ataxia OMIM:258300
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary urgency, Urinary incontinence, Abnormality of the autonomic nervous system OMIM:156310
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... OMIM:607671
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Seizure, Ataxia OMIM:619061
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Ataxia, Spasticity, Neurodegeneration, Tremor OMIM:615889
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination, Dystonia, Skeletal muscle atrophy, Ataxia OMIM:616684
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Achilles tendon contracture, Peripheral axonal degeneration, Cerebellar atrophy, Dysmetria, Hand ... OMIM:302800
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Foot dorsiflexor weakness, Peripheral demyelination, Decreased number of large peripheral myelina... OMIM:608340
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Cerebral atrophy, Cerebellar atrophy, Peripheral demyelination, Dystonia, Ataxia, Ri... OMIM:617672
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, CNS hypomyelination, Hypertrophic nerve changes, Axonal degenerat... OMIM:214400
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Hand tremor, Somatic sensory dysfunction, Steppage gait OMIM:300905
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia, Status epilepticus ORPHA:22
Spinocerebellar Ataxia Type 41
Gait ataxia ORPHA:458798
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Decreased amplitude of sensory acti... OMIM:608673
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Upslanted palpebral fissure, Skeletal muscle atrophy, Axonal dege... OMIM:162100
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Limb ataxia, Tremor OMIM:617018
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Foot dorsiflexor weakness, Flexion contracture, Onion bulb formation, Tremor, Decreased number of... OMIM:609260
Cerebellar Ataxia, Cayman Type
Intention tremor, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait ORPHA:94122
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Foot dorsiflexor weakness, Peripheral demyelination, Hypertrophic nerve changes, Myelin outfoldin... OMIM:118200
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Generalized hypotonia, Failure to thrive, Cachexia, Hypotonia, Weight loss OMIM:612075
Subacute Inflammatory Demyelinating Polyneuropathy
Axonal loss, Somatic sensory dysfunction, Diffuse peripheral demyelination, Peripheral demyelinat... ORPHA:206594
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Seizure, Ataxia ORPHA:85338
Null Syndrome
Progressive spastic paraplegia, Peripheral demyelination, CNS hypomyelination, Inability to walk,... ORPHA:280234
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia, Hypotonia ORPHA:1216
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Generalized hypotonia, Dysesthesia, Distal lower limb muscle weakness, Acut... ORPHA:98916
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Broad-based gait, Dysdiadochokinesis OMIM:605388
Hypertrophic Neuropathy Of Dejerine-Sottas
Foot dorsiflexor weakness, Hypertrophic nerve changes, Segmental peripheral demyelination/remyeli... OMIM:145900
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus OMIM:208700
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Charcot-Marie-Tooth Disease, Type 4H
Small thenar eminence, Small hypothenar eminence, Onion bulb formation, Decreased number of perip... OMIM:609311
Myopathy, Distal, With Rimmed Vacuoles
Foot dorsiflexor weakness, Skeletal muscle atrophy, Facial palsy, Increased variability in muscle... OMIM:617158
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Degeneration of anterior horn cells, Axonal degeneration, Decreased number of periph... OMIM:604484
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Athetosis, Gait disturbance, Rigid... OMIM:213600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Foot dorsiflexor weakness, Hypertrophic nerve changes, Segmental peripheral demyelination/remyeli... OMIM:118220
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Gait disturbance, Abnormality ... OMIM:614561
Ochoa Syndrome
Constipation, Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Renal ins... ORPHA:2704
Autosomal Recessive Spastic Paraplegia Type 56
Spastic gait, Dystonia, Spastic paraplegia, Unsteady gait, Tip-toe gait ORPHA:320411
Developmental And Epileptic Encephalopathy 7
Generalized hypotonia, Spastic tetraparesis, Dystonia, Hypotonia OMIM:613720
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Onion bulb formation, Upper limb muscle weakness, Decreased mo... OMIM:605253
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Generalized dystonia, Cerebellar vermis atrophy, Inability to walk, Lower lim... OMIM:619389
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Small nail, Keloids, Hyperkeratotic papule, Atypical scarring of skin, Milia, Abnormal toenail mo... ORPHA:79410
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Progressive extrapyramidal movement disorder, Seizure, Myoclonus, Hypertonia OMIM:612736
Charcot-Marie-Tooth Disease Type 4G
Lower limb amyotrophy, Distal lower limb muscle weakness, Peripheral demyelination, Impaired vibr... ORPHA:99953
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Foot dorsiflexor weakness, Onion bulb formation, Decreased number of peripheral myelinated nerve ... OMIM:605588
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, EMG: myopathic abnormalities, Proximal amyotrophy, Ataxia, Weakness of ... OMIM:500002
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation OMIM:618279
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Spastic gait, Somatic sensory dysfunction, Lower limb spasticity,... ORPHA:101010
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Impaired vibratory sensation, Tremor ORPHA:217012
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Tremor OMIM:618425
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Diffuse axonal swelling, ... OMIM:602433
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral atrophy, Cerebellar atrophy, Spasticity, Gliosis, Torticollis OMIM:618369
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia ORPHA:1397
Pelizaeus-Merzbacher Disease, Classic Form
Spastic tetraparesis, Abnormal pyramidal sign, Dystonia, Head tremor, Athetosis, Ataxia, Dystonic... ORPHA:280219
Neurodegeneration With Brain Iron Accumulation
Cerebellar atrophy, Dystonia, Rigidity, Spasticity, Chorea ORPHA:385
Episodic Kinesigenic Dyskinesia 2
Dystonia, Chorea OMIM:611031
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Hand muscle weakness, Hand paresthesia, Decreas... OMIM:162500
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Spastic paraplegia, Dystonia, Tip-toe gait, Unsteady gait OMIM:615030
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Generalized hypotonia, Spasticity, Dystonia, Chorea OMIM:613970
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Rigidity, Dystonia, Sensory ataxia, Difficulty walking OMIM:619661
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Distal arthrogryposis, Onion bulb formation, Ankle flexion contracture, Decreased ne... OMIM:611228
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Infantile Convulsions And Choreoathetosis
Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Athetosis, Chorea ORPHA:31709
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Postural tremor, Difficulty walking ORPHA:85292
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Developmental And Epileptic Encephalopathy 14
Generalized hypotonia, Cerebral cortical atrophy, Spasticity, Hypotonia, Gliosis, Neuronal loss i... OMIM:614959
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Neurodegeneration, Spastic paraparesis... OMIM:615157
Spinocerebellar Ataxia 37
Frequent falls, Unsteady gait, Ataxia, Tremor OMIM:615945
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Oculocerebral Syndrome With Hypopigmentation
Spasticity, Athetosis OMIM:257800
Xeroderma Pigmentosum, Complementation Group F
Deeply set eye, Decreased body weight, Numerous pigmented freckles, Ataxia, Tremor OMIM:278760
Spinocerebellar Ataxia Type 38
Gait ataxia, Somatic sensory dysfunction, Difficulty walking, Tremor ORPHA:423296
Dystonia With Ringbinden
Dystonia, Chorea, Gait disturbance OMIM:224550
Parkinson Disease 2, Autosomal Recessive Juvenile
Cerebral atrophy, Dystonia, Rigidity, Gait disturbance, Tremor OMIM:600116
Diaminopentanuria
Spasticity, Ataxia, Neurodegeneration OMIM:222350
Giant Axonal Neuropathy 2, Autosomal Dominant
Impaired distal tactile sensation, Onion bulb formation, Peripheral axonal neuropathy, Decreased ... OMIM:610100
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Ataxia, Tremor OMIM:611105
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:605285
Spinocerebellar Ataxia 48
Dysmetria, Dystonia, Ataxia, Gait ataxia, Chorea, Cachexia, Tremor OMIM:618093
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Choreoathetosis, Decreased number o... OMIM:208920
Spastic Paraplegia 54, Autosomal Recessive
Constipation, Optic nerve hypoplasia, Dysphagia, Urinary incontinence, Bowel incontinence OMIM:615033
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased varia... OMIM:618138
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic tetraplegia, Neurodegeneration, Spastic paraparesis, Tip-toe gait, Rigidity, Ga... OMIM:615643
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Peripheral demyelination, Skeletal muscle atrophy, Decreased nerve conductio... ORPHA:99944
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor OMIM:314250
Developmental And Epileptic Encephalopathy 32
Seizure, Ataxia, Myoclonus, Tremor OMIM:616366
Gne Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... ORPHA:602
Basal Ganglia Calcification, Idiopathic, 5
Parkinsonism, Athetosis, Chorea, Motor tics OMIM:615483
Spinocerebellar Ataxia 38
Gait ataxia, Limb ataxia, Ataxia OMIM:615957
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dysmetria, Dystonia, Spastic dysarthria, Gait ataxia, Progressive cerebellar ataxia, Spasticity, ... ORPHA:314603
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Spastic Paraplegia 13, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:605280
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Gait ataxia, Inability to walk, Deeply set eye OMIM:617915
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Foot dorsiflexor weakness, Axonal degeneration, Steppage gait, Distal sensory impairment, Gait di... OMIM:616155
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Decreased body weight, Abnormal brainstem morpholog... ORPHA:99852
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Foot dorsiflexor weakness, Peripheral demyelination, Axonal degeneration/regeneration, Distal sen... OMIM:607736
Developmental And Epileptic Encephalopathy 27
Dystonia, Generalized hypotonia, Spasticity, Chorea, Hypotonia OMIM:616139
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Ataxia OMIM:158500
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Peripheral demyelination, Gait ataxia, Distal sensory impairment, Distal upper limb amyotrophy, D... OMIM:258650
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... OMIM:618655
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Generalized hypotonia, Cachexia, Hypotonia, Weight loss OMIM:613662
Spinocerebellar Ataxia 31
Gait ataxia, Limb ataxia, Ataxia OMIM:117210
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Kinetic tremor, Abnormality of the spinocerebellar tracts, Dystonia, ... ORPHA:98756
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Lichtenstein-Knorr Syndrome
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Peripheral demyelination, Decreased nerve conduction velocity, Gait ataxia,... OMIM:249900
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Dystonia, Athetosis, Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Spinocerebellar Ataxia Type 17
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dystonia, Generalized cerebral ... ORPHA:98759
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Tremor ORPHA:494526
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Anxiety, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclo... ORPHA:401901
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Atonic seizure, Generalized myoclonic seizure, Babinski sign, Tremor OMIM:612437
Developmental And Epileptic Encephalopathy 17
Chorea, Dystonia, Athetosis OMIM:615473
Spastic Paraplegia 6, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence, Tremor OMIM:600363
Migraine, Familial Hemiplegic, 1
Anxiety, Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia OMIM:604432
Siddiqi Syndrome
Urinary incontinence, Limb dystonia OMIM:618635
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Dystonia, Dysphagia, Urinary incontinence, Bowel incontinence, Optic atrophy OMIM:618868
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Spastic tetraparesis, Dystonia, Spastic gait, Hand muscle... OMIM:205100
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Spastic paraparesis, Unsteady gait, Dysdiadochokinesis, Broad-based ... OMIM:616053
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Limb ataxia, Spastic gait OMIM:617133
Spastic Paraplegia Type 7
Cerebellar atrophy, Somatic sensory dysfunction, Spastic gait, Lower limb muscle weakness, Ragged... ORPHA:99013
Darier Disease
Abnormality of the nail, Abnormal hair morphology, Acrokeratosis, Plantar pits, Macule, Hypermela... ORPHA:218
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Violent behavior, Focal dystonia, Inertia,... ORPHA:216873
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Onion bulb formation, Distal sensory impairment... OMIM:311070
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Impaired proprioception, Spastic dysarthria, Spastic parapleg... ORPHA:251282
Salla Disease
Spasticity, Inability to walk, Athetosis, Ataxia OMIM:604369
Dystonia 28, Childhood-Onset
Dystonia, Craniofacial dystonia, Gait disturbance, Laryngeal dystonia, Spasticity, Tip-toe gait, ... OMIM:617284
Mitochondrial Complex I Deficiency, Nuclear Type 15
Peripheral demyelination, Dystonia, Spastic tetraplegia, Flexion contracture, Generalized hypoton... OMIM:618237
Hypotrichosis 4
Pili torti, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Alopecia, Sparse hair OMIM:146550
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Flexion contracture, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers... OMIM:607706
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Ataxia OMIM:619333
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Writer's cramp, Paroxysmal dystonia ORPHA:163727
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Ragged-red musc... ORPHA:457050
Mitochondrial Complex I Deficiency, Nuclear Type 23
Generalized hypotonia, Dystonia, Skeletal muscle atrophy, Hypertrichosis OMIM:618244
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Paralysis Agitans, Juvenile, Of Hunt
Gait disturbance, Rigidity, Dystonia, Tremor OMIM:168100
Alopecia Areata 2
Patchy alopecia, Alopecia of scalp, Alopecia totalis, Alopecia universalis OMIM:610753
Neurodevelopmental Disorder With Involuntary Movements
Dystonia, Involuntary movements, Athetosis, Spasticity, Chorea, Hyperkinetic movements OMIM:617493
Spastic Ataxia 1, Autosomal Dominant
Dystonia, Spastic paraplegia, Spastic ataxia, Gait disturbance OMIM:108600
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Hypotrichosis Simplex
Sparse eyebrow, Sparse body hair, Alopecia, Sparse eyelashes, Sparse scalp hair, Sparse hair ORPHA:55654
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Cerebral atrophy, Developmental cataract, Peripheral demyelinatio... OMIM:604168
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Spinocerebellar Ataxia, Autosomal Recessive 25
Truncal ataxia, Dysmetria, Ataxia OMIM:617584
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized myoclonic seizure, Tremor, Ataxia, Gait ataxia, Generalized non-motor (absence) seizu... OMIM:617831
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Spastic paraparesis, Unsteady gait, Gait ataxia, Dysdiadochokinesis,... ORPHA:423275
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Abnormal sensory nerve conduction velocity, Intrinsic ha... ORPHA:276435
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Foot dorsiflexor weakness, Somatic sensory dysfunction, Axonal degeneration/regeneration, Decreas... OMIM:600882
Spastic Paraplegia 19, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:607152
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Dysmetria, Intention tremor, Lower limb spasticity, Ataxia, Unsteady gai... OMIM:616948
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Dermal atrophy, Hyperconvex fingernails, Papule, Myopathy, Alopecia, Hypoplastic fingernail, Apla... ORPHA:257
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Emotional lability, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonu... OMIM:615362
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Sensory axonal neuropathy, Somatic sensory dysfunction, Impaired vibratory... OMIM:616924
Pelvic Organ Prolapse, Susceptibility To
Bowel incontinence OMIM:176780
Spinocerebellar Ataxia 12
Cerebellar atrophy, Dysmetria, Action tremor, Axial dystonia, Head tremor, Progressive cerebellar... OMIM:604326
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Somatic sensory dysfunction, Impaired proprioception, Fasciculations, Un... ORPHA:95434
Huntington Disease-Like 2
Caudate atrophy, Dystonia, Cerebral cortical atrophy, Chorea, Gait disturbance ORPHA:98934
Primary Dystonia, Dyt2 Type
Torsion dystonia, Generalized dystonia, Blepharospasm, Limb dystonia, Torticollis, Difficulty wal... ORPHA:99657
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Deeply set eye, Slender build, Self-injurious behavior, Aggressive behavior, Myoclonus OMIM:300699
Huntington Disease-Like 2
Action tremor, Dystonia, Rigidity, Chorea, Weight loss OMIM:606438
Myopathy, Distal, 1
High palate, Amyotrophy of ankle musculature, Weakness of long finger extensor muscles, Ragged-re... OMIM:160500
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Dystonia, Skeletal muscle atrophy, Inability to walk, Ataxia, Generalized hyp... OMIM:618276
Spastic Paraplegia 12, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:604805
Krabbe Disease
Peripheral demyelination, Neurodegeneration, Autoimmune thrombocytopenia, Decreased nerve conduct... OMIM:245200
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Bradykinesia, Rigidity, Dysdiadochokinesis ORPHA:228169
Nemaline Myopathy 2
Long philtrum, Increased variability in muscle fiber diameter, Limb muscle weakness, Arthrogrypos... OMIM:256030
Dystonia 7, Torsion
Torsion dystonia, Hand tremor, Blepharospasm, Torticollis, Writer's cramp, Oromandibular dystonia OMIM:602124
Progressive Myoclonic Epilepsy Type 1
Intention tremor, Ataxia, Limb ataxia, Morning myoclonic jerks, Myoclonus ORPHA:308
Spinocerebellar Ataxia Type 35
Dysmetria, Intention tremor, Gait ataxia, Progressive cerebellar ataxia, Torticollis, Limb ataxia... ORPHA:276193
Developmental And Epileptic Encephalopathy 43
Seizure, Ataxia OMIM:617113
Epilepsy, Progressive Myoclonic 7
Seizure, Ataxia, Myoclonus, Tremor OMIM:616187
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy, Generalized hypotonia, Dystonia OMIM:616763
Spastic Paraplegia, Ataxia, And Mental Retardation
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence, Dystonia OMIM:607565
Paroxysmal Non-Kinesigenic Dyskinesia
Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Rigidity, Chorea, Torticollis, Hyp... ORPHA:98810
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Choreoathetosis, Ataxia, Generalized h... OMIM:618088
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Resting tremor, Centrally nucleated skeletal muscle fibers, Increased variability in mu... ORPHA:401768
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Global brain atrophy, Generalized amyotrophy, Abnormal mi... ORPHA:275872
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Abnormal pons morphology, Cerebellar cortical atrophy, Impaired v... ORPHA:171622
Pontocerebellar Hypoplasia, Type 2C
Dystonia, Chorea OMIM:612390
Alternating Hemiplegia Of Childhood 2
Choreoathetosis, Ataxia, Episodic quadriplegia, Tetraplegia, Hemiplegia, Seizure, Status epilepticus OMIM:614820
Intellectual Developmental Disorder, Autosomal Recessive 6
Dystonia, Tremor OMIM:611092
Leukodystrophy, Hypomyelinating, 14
Cerebral atrophy, Cerebellar atrophy, Dystonia, Generalized hypotonia, Spasticity OMIM:617899
Alopecia Areata 1
Patchy alopecia, Trachyonychia, Nail pits, Alopecia universalis, Alopecia totalis OMIM:104000
Mitochondrial Membrane Protein-Associated Neurodegeneration
Hand tremor, Dystonia, Dysphagia, Urinary incontinence, Bowel incontinence, Optic atrophy ORPHA:289560
Spinocerebellar Ataxia 28
Cerebellar atrophy, Dystonia, Gait ataxia, Spasticity, Limb ataxia, Hypertonia OMIM:610246
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Cerebral atrophy, Peripheral demyelination, Caudate atrophy, Spasticity, Gait distur... OMIM:221770
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Abnormal head movements, Ataxia ORPHA:71518
Huntington Disease-Like 3
Urinary incontinence, Bowel incontinence, Dystonia OMIM:604802
Hypotrichosis 5
Absent pubic hair, Thin eyebrow, Sparse eyelashes, Alopecia, Absent axillary hair OMIM:612841
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Sparse scalp hair, Leuk... OMIM:613102
Spastic Paraplegia Type 2
Bowel incontinence, Optic atrophy, Spastic/hyperactive bladder ORPHA:99015
Myasthenic Syndrome, Congenital, 18
Flexion contracture, Ataxia, Ptosis, Difficulty walking OMIM:616330
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Dystonia, Gait ataxia, Spasticity, Cerebral cortical atrophy, Spas... OMIM:611390
Urocanase Deficiency
Fair hair, Blue irides, Ataxia, Aggressive behavior, Tremor OMIM:276880
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Choreoathetosis, Lower limb spasticity, Ataxia, Paresthesia, Chorea ORPHA:98811
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle fiber splitt... ORPHA:178464
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle amyotrophy, Scapular winging, Dystonia, Shoulder girdle muscle atrophy, Temporal co... OMIM:167320
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Dysdiadochokinesis, Cogwheel rigidity, Gait disturbance, Limb dysmet... ORPHA:363710
Dystonia 24
Torticollis, Blepharospasm, Head tremor, Oromandibular dystonia OMIM:615034
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Leukodystrophy, Peripheral axonal neuropathy, Dystonia, Ataxia OMIM:619196
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Dystonia, Spastic tetraplegia OMIM:618646
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Spasticity, Ataxia, Tremor OMIM:614307
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Dermal atrophy, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia, Alope... OMIM:617294
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Seizure, Ataxia ORPHA:404493
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Axial muscle weakness, Limb-girdle muscle weakness, Increased variabil... ORPHA:399058
Leukodystrophy, Hypomyelinating, 16
Dysmetria, Dystonia, Intention tremor, Gait ataxia, Generalized hypotonia, Broad-based gait, Hype... OMIM:617964
Charcot-Marie-Tooth Disease, Type 4B2
Foot dorsiflexor weakness, Segmental peripheral demyelination/remyelination, Onion bulb formation... OMIM:604563
Oculopharyngeal Muscular Dystrophy
Gait disturbance, Facial palsy, Progressive ptosis, Limb muscle weakness OMIM:164300
Huntington Disease
Gliosis, Neuronal loss in central nervous system, Cerebellar atrophy, Rigidity OMIM:143100
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... OMIM:607317
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Abnormal sensory nerve conduction velocity, Ataxia, Impaired vibration s... ORPHA:88628
Spinocerebellar Ataxia 35
Incoordination, Dysmetria, Intention tremor, Ataxia, Torticollis, Babinski sign, Difficulty walking OMIM:613908
Leukodystrophy, Hypomyelinating, 2
Cerebral atrophy, Sensory axonal neuropathy, Dystonia, Choreoathetosis, Intention tremor, Spastic... OMIM:608804
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Spastic tetraparesis... OMIM:612319
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Frequent falls, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Somatic sensory dysfunction, Proximal lower limb amyotrophy, Proximal muscle weakness in lower li... OMIM:158600
Developmental And Epileptic Encephalopathy 42
Hypertonia, Athetosis, Ataxia, Tremor OMIM:617106
Spinal Muscular Atrophy, Jokela Type
Distal sensory impairment, Difficulty walking, Fasciculations, Tremor OMIM:615048
Spinocerebellar Ataxia Type 25
Spastic dysarthria, Decreased number of large peripheral myelinated nerve fibers, Facial myokymia... ORPHA:101111
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Peripheral axonal degeneration, Orthostatic hypotension, Axonal degeneration, Decreased number of... OMIM:608720
Dentatorubral-Pallidoluysian Atrophy
Abnormal pyramidal sign, Choreoathetosis, Ataxia, Chorea, Seizure, Myoclonus OMIM:125370
Spastic Paraplegia 37, Autosomal Dominant
Urinary urgency, Urinary incontinence OMIM:611945
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Gait disturbance, ... OMIM:605820
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, G... OMIM:615490
Glut1 Deficiency Syndrome 2
Cerebral atrophy, Dystonia, Choreoathetosis, Ataxia, Tremor OMIM:612126
Dystonia, Dopa-Responsive
Dystonia, Resting tremor, Cogwheel rigidity, Gait ataxia, Impaired distal vibration sensation, Sp... OMIM:128230
Spinocerebellar Ataxia 30
Ataxia OMIM:613371
Spastic Paraplegia 8, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:603563
Leukodystrophy, Hypomyelinating, 18
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Dystonia, Flexion co... OMIM:618404
Autosomal Spastic Paraplegia Type 72
Rigidity, Spastic gait, Postural tremor, Impaired vibration sensation at ankles ORPHA:401849
Tetanus
Opisthotonus, Rigors, Autonomic bladder dysfunction, Elevated urinary epinephrine, Abnormal auton... ORPHA:3299
Encephalopathy, Progressive, With Or Without Lipodystrophy
Cerebral atrophy, Dystonia, Ataxia, Spasticity, Neuronal loss in central nervous system, Tremor OMIM:615924
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Ataxia, Craniofacial dystonia, Spasticity, Chorea, Gait disturbance OMIM:617282
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Ataxia, Difficulty walking, Generalized non-motor (absence) seizure, Seizure, Myo... OMIM:614018
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Ataxia OMIM:260970
Aicardi-Goutieres Syndrome 2
Cerebral atrophy, Dystonia, Spastic paraplegia OMIM:610181
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Gait ataxia, Limb ataxia, Seizure ORPHA:404499
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Dystonia, Ataxia, Generalized hypotonia, Spasticity, Hypotonia OMIM:614458
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor ORPHA:2589
Leukoencephalopathy, Cystic, Without Megalencephaly
Athetosis, Spasticity, Dystonia, Ataxia OMIM:612951
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Back pain, Myalgia, Urinary incontinence, Bowel incontinence... ORPHA:329478
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Failure to thrive, Spastic tetraparesis, Dystonia ORPHA:67046
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Intrauterine growth retardation, Small for gestational age, Degen... OMIM:604320
Spinocerebellar Ataxia, Autosomal Recessive 17
Truncal ataxia, Dysmetria, Unsteady gait, Tremor OMIM:616127
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Progressive extrapyramidal movement disorder, Chorea, Abnormality of... ORPHA:382
Developmental And Epileptic Encephalopathy 67
Athetosis, Gait disturbance OMIM:618141
Zebra Body Myopathy
Nemaline bodies, Myofibrillar myopathy, Axial muscle weakness, Limb-girdle muscular dystrophy, Go... ORPHA:97240
Intellectual Developmental Disorder, Autosomal Recessive 4
Delayed myelination OMIM:611107
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebral atrophy, Cerebellar atrophy, Dystonia, Tremor, Scissor gait, Loss of ambulation, Spastic... ORPHA:521406
Dystonia 11, Myoclonic
Generalized hypotonia, Hypotonia, Torticollis, Writer's cramp, Tremor OMIM:159900
Spinocerebellar Ataxia 25
Cerebellar atrophy, Abolished vibration sense, Facial myokymia, Impaired pain sensation, Ataxia, ... OMIM:608703
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Ataxia, Alopecia OMIM:212835
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Spastic paraplegia, Steppage gait, Distal sensory impairment, Peripheral ax... OMIM:615035
Perineural Cyst
Abnormal large intestine physiology, Chest pain, Vulvodynia, Sciatica, Shoulder pain, Anal pain, ... ORPHA:65250
Dravet Syndrome
Myoclonic seizure, Abnormal pyramidal sign, Atonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Dystonia, Ataxia OMIM:616267
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Abnormal lower motor neuron morphology, Paraparesis, Gliosis, Neuronal loss in ... OMIM:105550
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Decreased activity of mitochondrial complex I, Cerebral atrophy, Gowers sign, Ragged-red muscle f... OMIM:609560
Spinocerebellar Ataxia 23
Dysmetria, Impaired vibration sensation in the lower limbs, Gait ataxia, Limb ataxia, Babinski si... OMIM:610245
Spinocerebellar Ataxia Type 28
Kinetic tremor, Dystonia, Head tremor, Limb dystonia, Gait ataxia, Rigidity, Spasticity, Limb ataxia ORPHA:101109
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ne... OMIM:601455
Wild Type Attr Amyloidosis
Intermittent diarrhea, Nephrotic syndrome, Proteinuria, Autonomic bladder dysfunction, Gastrointe... ORPHA:330001
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Lower limb amyotrophy, Distal lower limb muscle weakness, Amyotrophy of ankle musculature, Foot d... ORPHA:90103
Childhood Disintegrative Disorder
Urinary incontinence, Bowel incontinence ORPHA:168782
Neuromyelitis Optica Spectrum Disorder
Neuronal loss in central nervous system, Somatic sensory dysfunction, Peripheral demyelination, M... ORPHA:71211
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Foot dorsiflexor weakness, Axonal degeneration, Failure to thrive, Weakness ... OMIM:618811
Episodic Ataxia Type 4
Incoordination, Frequent falls, Abnormal head movements, Ataxia ORPHA:79136
Leukoencephalopathy with metaphyseal chondrodysplasia
Gait disturbance, Babinski sign, Spastic paraplegia, Tremor OMIM:300660
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Apraxia, Involuntary movements, Bradykinesia, Limb aprax... ORPHA:240103
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Gait ataxia, Spasticity, Limb ataxia, Babinski sign, Seizure OMIM:614322
Autosomal Dominant Spastic Paraplegia Type 13
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence ORPHA:100994
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Unsteady gait, Limb ataxia, Spasticity, Truncal ataxia, Babinski sign, Ankle clonus OMIM:615768
Adult Krabbe Disease
Abnormal pons morphology, Somatic sensory dysfunction, Peripheral demyelination, Impaired tactile... ORPHA:206448
Myasthenic Syndrome, Congenital, 8
Facial palsy, Ptosis OMIM:615120
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... ORPHA:101110
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dystonia, Spastic tetraplegia OMIM:251280
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Alopecia universalis, Absent axill... OMIM:615059
Autosomal Spastic Paraplegia Type 58
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Peripheral demyelination, Intention tremor, Unst... ORPHA:397946
Leber Optic Atrophy And Dystonia
Dystonia, Bradykinesia, Athetosis, Upper motor neuron dysfunction, Spasticity OMIM:500001
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor OMIM:158580
Alopecia Universalis
Absent eyelashes, Alopecia universalis, Patchy alopecia, Absent eyebrow ORPHA:701
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber splitting, Abnormal peripheral nervous system morphology, Mus... OMIM:609524
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Dystonia, Inability to walk, Generalized hypotonia, Spasticity, Cerebral cortical atrophy OMIM:617820
Myasthenic Syndrome, Congenital, 15
Difficulty walking, Multiple joint contractures, Ptosis OMIM:616227
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Focal dystonia, Gait ataxia, Progressive cerebellar ataxia, Impair... OMIM:605361
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Cerebellar atrophy, Dystonia, Spastic paraparesis, Rigidity, Neurodegeneration,... OMIM:300894
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Deeply set eye, Ataxia, Intention tremor ORPHA:137831
Inclusion Body Myositis
Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fibers, Quadriceps muscle weakn... ORPHA:611
Nemaline Myopathy 4
High palate, Nemaline bodies, Scapular winging, Flexion contracture, Gowers sign, Skeletal muscle... OMIM:609285
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Ataxia, Generalized hypotonia, ... OMIM:617862
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Cerebral atrophy, Dystonia, Choreoathetosis, Inability to walk, Hypotonia OMIM:618497
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Impaired distal tactile sensation, Impaired distal vibration sensation, Decreased number of perip... OMIM:607080
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Gowers sign, Shoulder girdle muscle atrophy, Waddling... OMIM:254110
Huntington Disease-Like 3
Urinary incontinence, Bowel incontinence, Dystonia ORPHA:157946
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Parkinsonism, Ataxia, Abnormality of extrapyramidal motor function, Seizure, Myoclonus OMIM:162350
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse eyebrow, Sparse body hair, Alopecia, Sparse hair, Abnormal fingernai... ORPHA:2722
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Dowling-Degos Disease
Epidermoid cyst, Digital pitting scar, Hypopigmented macule, Skin vesicle, Hyperpigmented papule,... ORPHA:79145
Tremor-Ataxia-Central Hypomyelination Syndrome
Positive Romberg sign, Deeply set eye, Dysmetria, Dystonia, Intention tremor, Spastic dysarthria,... ORPHA:447896
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Small for gestational age, Bradykinesia, Ata... OMIM:261640
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Somatic sensory dysfunction, Decreased number of large peripheral myelinated nerve fibers, Decrea... OMIM:615376
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Congenital muscular dystrophy, Increased variability in muscle fiber diamete... OMIM:609456
Spinocerebellar Ataxia 18
Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Neuronal Intranuclear Inclusion Disease
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Episodic ... OMIM:603472
Spastic Paraplegia 36, Autosomal Dominant
Urinary urgency, Urinary incontinence OMIM:613096
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Tremor, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia, Broa... OMIM:270500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Spinocerebellar Ataxia Type 11
Progressive cerebellar ataxia, Gait imbalance, Dystonia, Difficulty walking ORPHA:98767
Aicardi-Goutieres Syndrome 6
Loss of ability to walk, Rigidity, Dystonia, Tremor OMIM:615010
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Progressive spastic paraplegia, Deeply set eye, Dystonia, Obesity, Lower limb spasticity, Ataxia,... ORPHA:464282
Autosomal Dominant Spastic Paraplegia Type 6
Urinary incontinence, Postural tremor ORPHA:100988
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Frequent falls, Intention tremor, Spastic dysarthria, Unsteady gait, Nonprogressiv... ORPHA:314978
Developmental And Epileptic Encephalopathy 37
Choreoathetosis, Rigidity, Spasticity, Hyperkinetic movements, Myoclonus OMIM:616981
Pure Autonomic Failure
Orthostatic hypotension, Dysuria, Constitutional symptom, Constipation, Abnormal autonomic nervou... ORPHA:441
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Sparse scalp hair, Sparse pubic hair, Alopecia ORPHA:505