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
unresponsive to tactile stimuli Dsttm1b(EUCOMM)Wtsi HET E18.5 0.00
preweaning lethality, incomplete penetrance Dsttm1b(EUCOMM)Wtsi HOM   Early adult 0.00
persistence of hyaloid vascular system Dsttm1b(EUCOMM)Wtsi HET   Early adult 3.11×10-05
abnormal embryo size Dsttm1b(EUCOMM)Wtsi HET E18.5 0.00
abnormal embryo size Dsttm1b(EUCOMM)Wtsi HET E12.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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)
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric lymph node 0.31% (1 of 323)
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vas deferens 4.56% (18 of 395)
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.

Eye Morphology

VIP of right eye

16 Images

Eye Morphology

VIP of right fundus

16 Images

Adult LacZ

LacZ Images Wholemount

25 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

VIP of left fundus

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 Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

VIP of left eye

16 Images

MicroCT E18.5

Embryo reconstruction

8 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
Dystrophic toenail, Atrophic scars, Nail dystrophy OMIM:615425
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bilateral vocal cord paresis, 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
Mononeuropathy Of The Median Nerve, Mild
Peripheral axonal neuropathy OMIM:613353
Autosomal Dominant Focal Dystonia, Dyt25 Type
Lingual dystonia, Limb dystonia, Torticollis, Focal dystonia, Axial dystonia, Craniofacial dyston... ORPHA:329466
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Dystonia 25
Laryngeal dystonia, Limb dystonia, Torticollis, Lingual dystonia OMIM:615073
Guillain-Barre Syndrome, Familial
Acute demyelinating polyneuropathy OMIM:139393
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Dystonia 17, Torsion, Autosomal Recessive
Focal dystonia, Torticollis OMIM:612406
Primary Dystonia, Dyt17 Type
Generalized dystonia, Torticollis, Cerebral cortical atrophy, Craniofacial dystonia ORPHA:370103
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
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Dystonia 4, Torsion, Autosomal Dominant
Gait ataxia, Limb dystonia, Torticollis, Hemidystonia, Torsion dystonia, Slender build, Generaliz... OMIM:128101
Atonic-Astatic Syndrome Of Foerster
Ataxia, Abasia, Inability to walk OMIM:209100
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Dystonia 6, Torsion
Lingual dystonia, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Oromandibular dys... OMIM:602629
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Dystonia, Focal, Task-Specific
Writer's cramp OMIM:611284
Dystonia 35, Childhood-Onset
Dystonia OMIM:619921
Spastic Ataxia With Congenital Miosis
Hemiplegia/hemiparesis, Spastic ataxia, Seizure, Ataxia ORPHA:1182
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Dystonia, Difficulty walking, Laryngeal dystonia, Spastic paraplegia OMIM:619681
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:606482
Spinocerebellar Ataxia Type 4
Impaired tactile sensation, Gait disturbance, Ataxia, Impaired proprioception, Impaired vibratory... ORPHA:98765
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:607734
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating motor neuropathy, Demyelinating s... ORPHA:208981
Dystonia With Cerebellar Atrophy
Torticollis, Craniofacial dystonia, Cerebellar atrophy, Progressive cerebellar ataxia, Dystonia OMIM:611694
Dystonia 32
Limb dystonia, Torticollis, Brain atrophy, Laryngeal dystonia OMIM:619637
Episodic Ataxia, Type 7
Episodic ataxia OMIM:611907
Dystonia 30
Writer's cramp, Torticollis, Diffuse cerebral atrophy, Leg dystonia, Loss of ambulation, Oromandi... OMIM:619291
Angelman syndrome (Type 2)
Truncal ataxia, Seizure DECIPHER:54
Angelman syndrome (Type 1)
Truncal ataxia, Seizure DECIPHER:4
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia
Episodic ataxia ORPHA:1179
Dystonia 33
Spasticity, Limb dystonia, Axial dystonia, Axial hypotonia, Dystonia OMIM:619687
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Gait ataxia, Onion bulb formation, Hypertrophic nerve changes, Paresthesia, Decreased motor nerve... OMIM:601098
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Primary Dystonia, Dyt21 Type
Blepharospasm, Paroxysmal dystonia, Limb dystonia, Torticollis, Focal dystonia, Axial dystonia, L... ORPHA:306734
Spastic Paraplegia 72, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Hoffmann sign, Spasticity, Tip-toe gait, Spastic... OMIM:615625
Amyotrophic Dystonic Paraplegia
Bowel incontinence, Urinary incontinence, Dystonia OMIM:105300
Spinocerebellar Ataxia Type 23
Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Babinski sign, Impaired propriocep... ORPHA:101108
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor OMIM:160120
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Dystonia 23
Cerebral cortical atrophy, Writer's cramp, Limb dystonia, Torticollis, Gait disturbance, Head tre... OMIM:614860
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Gait ataxia, Onion bulb formation, Hypert... OMIM:180800
Charcot-Marie-Tooth Disease Type 2B1
Inability to walk, Sensory axonal neuropathy, Steppage gait, Shoulder girdle muscle atrophy, Clus... ORPHA:98856
Primary Dystonia, Dyt6 Type
Blepharospasm, Lingual dystonia, Limb dystonia, Torticollis, Craniofacial dystonia, Laryngeal dys... ORPHA:98806
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Distal amyotrophy, Upper limb muscle weakness, Distal sensory i... OMIM:607791
Hinman Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Constipation, Bowel incontinence, Enur... ORPHA:84085
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Distal lower limb amyotrophy, Axonal regeneration, Distal upper limb amyotr... OMIM:615185
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
Neuhauser-Eichner-Opitz Syndrome
Rigidity, Spasticity, Ataxia, Hypertonia ORPHA:2672
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Segmental peripheral demyelination, Thenar muscle atrophy, Foot dorsiflexor... OMIM:606483
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Impaired distal vibration sensation, Tip-toe gait, Axonal degeneration, Decreased motor nerve con... OMIM:614436
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Paroxysmal Kinesigenic Dyskinesia
Chorea, Writer's cramp, Involuntary movements, Athetosis, Dystonia ORPHA:98809
Choreoathetosis, Familial Inverted
Progressive choreoathetosis, Rigidity, Abnormal pyramidal sign, Gait disturbance OMIM:118750
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:118210
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:214400
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Dystonia 31
Abnormal posturing, Parkinsonism, Writer's cramp, Leg dystonia, Difficulty walking, Craniofacial ... OMIM:619565
Dystonia 15, Myoclonic
Writer's cramp, Dystonia OMIM:607488
Spinocerebellar Ataxia Type 30
Gait ataxia, Limb ataxia ORPHA:211017
Episodic Kinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Paroxysmal dystonia OMIM:128200
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Distal ... OMIM:607677
Episodic Ataxia, Type 8
Slurred speech, Episodic ataxia, Intention tremor, Ataxia OMIM:616055
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating motor neuropathy, Demyelinating sensory neuropathy OMIM:182815
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus, Ataxia ORPHA:22
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Gait ataxia, Onion bulb formation, Decrea... OMIM:614895
Dentatorubral-Pallidoluysian Atrophy
Chorea, Parkinsonism, Myoclonus, Choreoathetosis, Ataxia, Dystonia OMIM:125370
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired distal vibration sensation, Onion bulb formation, Fatty replacement of skeletal muscle, ... OMIM:618279
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Onio... OMIM:607706
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Flexion contracture, Peripheral axonal degeneration, Clusters of axona... ORPHA:101097
Paroxysmal Non-Kinesigenic Dyskinesia
Chorea, Rigidity, Torticollis, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Hyp... ORPHA:98810
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Spinocerebellar Ataxia Type 43
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia, Peripheral axonal neuropathy, Cogwheel rigid... ORPHA:497764
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Foot dorsiflexor wea... OMIM:607731
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Muscle fiber atrophy, Sensory axonal neuropathy, Tremor, Focal dystonia,... ORPHA:309169
Cataract-Ataxia-Deafness-Retardation Syndrome
Distal sensory impairment, Ataxia OMIM:212710
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Gait ataxia, Failure to thrive in infancy, Impaired vibration sensation at ankles, Abnormality of... ORPHA:90103
Developmental And Epileptic Encephalopathy 38
Generalized hypotonia, Dystonia, Ataxia, Hypertonia OMIM:617020
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Abnormal nerve conduction velocity, Motor conduction block, Paresthe... ORPHA:2932
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Torticollis, Paroxysmal dystonia OMIM:118800
Hydrocephalus, Normal-Pressure, 1
Bowel incontinence, Urinary incontinence OMIM:236690
Spinocerebellar Ataxia Type 41
Gait ataxia ORPHA:458798
Spinocerebellar Ataxia 41
Gait ataxia, Unsteady gait, Ataxia OMIM:616410
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... OMIM:607671
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Ataxia, Skeletal muscle atrophy, Dystonia, Peripheral demyelination OMIM:616684
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Distal amyotrophy... OMIM:608673
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Distal sensory impairment, Foot dorsiflexor weakness, Distal amyotrophy, De... OMIM:608340
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Tip-toe gait, Axona... OMIM:302800
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Paroxysmal Exertion-Induced Dyskinesia
Chorea, Paresthesia, Choreoathetosis, Ataxia, Torsion dystonia, Paroxysmal dyskinesia, Lower limb... ORPHA:98811
Spinocerebellar Ataxia 43
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory impairment OMIM:617018
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Spasticity, Onion bulb formation, Flexion... OMIM:609260
Mitochondrial Myopathy With Diabetes
Proximal muscle weakness, Weakness of orbicularis oculi muscle, Facial palsy, Ataxia, EMG: myopat... OMIM:500002
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Gait ataxia, Onion bulb formation, Generalized hypotonia, Dys... ORPHA:98916
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Dystonia, Choreoathetosis, Episodic quadriplegia OMIM:104290
Spinocerebellar Ataxia, Autosomal Recessive 25
Truncal ataxia, Dysmetria, Ataxia, Babinski sign OMIM:617584
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Seizure, Ataxia OMIM:619061
Striatonigral Degeneration, Infantile
Failure to thrive, Spasticity, Choreoathetosis, Dystonia OMIM:271930
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Broad-based gait, Dysdiadochokinesis OMIM:605388
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Abnormality of extrapyramidal motor function, Ataxia, Athetosis, Dystonia OMIM:615159
Amyotrophy, Hereditary Neuralgic
Short stature, Epicanthus, Blepharophimosis, Peripheral axonal degeneration, Brachial plexus neur... OMIM:162100
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Seizure, Ataxia ORPHA:85338
Spinal Muscular Atrophy, Type Iv
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... OMIM:271150
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Onio... OMIM:145900
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia OMIM:617769
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Choreoathetosis, Gait disturbance, Ataxia ORPHA:67047
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:118200
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia OMIM:208700
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Chorea, Spasticity, Cerebral cortical atrophy, Inability to walk, Axonal loss, Rigidity, Ataxia, ... OMIM:617672
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Motor conduction block, Diffuse peripheral demyelination, Axonal los... ORPHA:206594
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Myoclonic Epilepsy, Familial Infantile
Gait ataxia, Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset ... OMIM:605021
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Distal lower limb a... OMIM:609311
Charcot-Marie-Tooth Disease, Type 4C
Segmental peripheral demyelination, Decreased motor nerve conduction velocity, Peripheral axonal ... OMIM:601596
Null Syndrome
Progressive spastic paraplegia, Abnormality of peripheral nerve conduction, Abnormal cerebellum m... ORPHA:280234
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia, Hypotonia ORPHA:1216
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary incontinence, Abnormal autonomic nervous system physiology, Urinary urgency OMIM:156310
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... OMIM:616053
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... OMIM:614561
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Gliosis, Amyotrophic lateral sclerosis, Athetosis, Dystonia OMIM:300857
Myopathy, Distal, With Rimmed Vacuoles
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... OMIM:617158
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral hypomyelination, Neon... OMIM:605253
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Ataxia, Babinski sign,... ORPHA:101010
Ochoa Syndrome
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Constipation, Bo... ORPHA:2704
Autosomal Recessive Spastic Paraplegia Type 56
Tip-toe gait, Spastic gait, Spastic paraplegia, Unsteady gait, Dystonia ORPHA:320411
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:118220
Spinocerebellar Ataxia, Autosomal Recessive 29
Iron accumulation in substantia nigra, Generalized dystonia, Cerebellar vermis atrophy, Inability... OMIM:619389
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Parox... ORPHA:53583
Spinocerebellar Ataxia Type 31
Gait ataxia, Impaired vibratory sensation, Spasticity, Tremor ORPHA:217012
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:605588
Infantile Convulsions And Choreoathetosis
Chorea, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Athetosis, Dystonia ORPHA:31709
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Distal arthrogryposis, Plantar flexion contracture, Wrist drop, Diaphragmatic eventration, Fiber ... OMIM:620011
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Neck flexor weakness, Decreased activity of mitochondrial complex III, Decreased activity of mito... OMIM:616209
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Charcot-Marie-Tooth Disease Type 4G
Motor conduction block, Upper limb amyotrophy, Decreased motor nerve conduction velocity, Demyeli... ORPHA:99953
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Gait ataxia, Limb ataxia ORPHA:284282
Alternating Hemiplegia Of Childhood 2
Choreoathetosis, Episodic quadriplegia, Hemiplegia, Ataxia, Tetraplegia, Dystonia OMIM:614820
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia ORPHA:1397
Peroxisome Biogenesis Disorder 8B
Cerebellar vermis atrophy, Optic atrophy, Dysesthesia, Hypertonia, Unsteady gait, Gait ataxia, Sp... OMIM:614877
Neurodegeneration With Brain Iron Accumulation
Chorea, Spasticity, Rigidity, Cerebellar atrophy, Dystonia ORPHA:385
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Peripheral axonal degeneration, Abnormal lower motor neuron ... OMIM:602433
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Postural tremor ORPHA:85292
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... OMIM:604484
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Hypoesthesia, Segmental peripheral demyelination/remye... OMIM:162500
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Rigidity, Sensory ataxia, Dystonia, Difficulty walking OMIM:619661
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Tip-toe gait, Unsteady gait, Dystonia, Spastic paraplegia OMIM:615030
Cerebellar Ataxia, Cayman Type
Gait ataxia, Intention tremor, Truncal ataxia, Broad-based gait OMIM:601238
Episodic Kinesigenic Dyskinesia 2
Chorea, Dystonia OMIM:611031
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Intention tremor, Broad-based gait, Nonprogressive cerebellar ataxia ORPHA:94122
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Aggressive behavior, Deeply set eye, Self-injurious behavior, Myoclonus, Hypertonia, Limb tremor,... OMIM:300699
Charcot-Marie-Tooth Disease, Type 4J
Distal arthrogryposis, Onion bulb formation, Axonal loss, Decreased motor nerve conduction veloci... OMIM:611228
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Chorea, Impaired distal vibration sensation, Axonal degeneration, Truncal ataxia, Pe... OMIM:208920
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Spastic Paraplegia 55, Autosomal Recessive
Impaired distal vibration sensation, Onion bulb formation, Optic atrophy, Lower limb muscle weakn... OMIM:615035
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Tremor, Axial hypotonia, Dystonia OMIM:618425
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Cachexia, Ataxia, Dysmetria, Tremor, Dystonia OMIM:618093
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Decreased body weight, Spastic gait, Cogwheel rigidity, Hypertonia, Dystonia OMIM:618284
Spinocerebellar Ataxia Type 38
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking ORPHA:423296
Diaminopentanuria
Spasticity, Neurodegeneration, Ataxia OMIM:222350
Giant Axonal Neuropathy 2, Autosomal Dominant
Impaired distal vibration sensation, Onion bulb formation, Decreased motor nerve conduction veloc... OMIM:610100
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Generalized myoclonic seizure, Ataxia, Babinski sign, Dysmetria, Tremor, Atonic seizure OMIM:612437
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Ataxia, Babinski sign OMIM:611105
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Global brain atrophy, Spasticity, Motor axonal neuropathy, Inability to walk, Ataxia, Type 1 musc... OMIM:618276
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:618184
Parkinson Disease 2, Autosomal Recessive Juvenile
Rigidity, Gait disturbance, Tremor, Cerebral atrophy, Dystonia OMIM:600116
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Gne Myopathy
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... ORPHA:602
Mast Syndrome
Dysdiadochokinesis, Apraxia, Gait disturbance, Incoordination, Babinski sign, Spastic paraplegia,... OMIM:248900
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Gait disturbance, Tr... OMIM:213600
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Dystonia 24
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia OMIM:615034
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Internally nucleated ske... OMIM:618138
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Decreased nerve conduction velocity, Skeletal muscle atrophy, Distal sensory... ORPHA:99944
Dystonia 3, Torsion, X-Linked
Chorea, Torsion dystonia, Tremor OMIM:314250
Oculocerebral Syndrome With Hypopigmentation
Spasticity, Athetosis OMIM:257800
Epilepsy, Progressive Myoclonic, 8
Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Gait disturbance, Action myoclonus OMIM:616230
Spastic Paraplegia Type 7
Impaired vibration sensation in the lower limbs, Somatic sensory dysfunction, Cerebral cortical a... ORPHA:99013
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Gait ataxia, Spasticity, Cerebral cortical atrophy, Spastic ataxia, Spastic dysarthria, Dysmetria... ORPHA:314603
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Striatonigral Degeneration, Childhood-Onset
Loss of ambulation, Hypotonia, Craniofacial dystonia, Hypertonia, Steppage gait, Unsteady gait, D... OMIM:617054
Dystonia With Ringbinden
Chorea, Gait disturbance, Dystonia OMIM:224550
Spastic Paraplegia 13, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:605280
Spinocerebellar Ataxia 31
Gait ataxia, Limb ataxia, Ataxia OMIM:117210
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Ataxia OMIM:158500
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Polyglucosan Body Myopathy 2
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Muscle fibe... OMIM:616199
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Foot dorsiflexor weakness, Distal amyotrophy, Axonal degeneration/regeneration, Distal sensory im... OMIM:607736
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Limb ataxia, Spastic gait OMIM:617133
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor OMIM:616291
Ravine Syndrome
Spasticity, Decreased body weight, Abnormal brainstem morphology, Abnormal auditory evoked potent... ORPHA:99852
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Anxiet... ORPHA:401901
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... OMIM:618655
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Generalized hypotonia, CNS demyelination, Spastic tetraparesis, Hypotonia, Decreased... OMIM:249900
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Lower limb muscle weakness, Gait disturbance, Steppage gait, Foot dorsiflexo... OMIM:616155
Developmental And Epileptic Encephalopathy 7
Spastic tetraparesis, Hypotonia, Dystonia OMIM:613720
Siddiqi Syndrome
Urinary incontinence, Limb dystonia OMIM:618635
Spinocerebellar Ataxia Type 17
Chorea, Spasticity, Blepharospasm, Rigidity, Writer's cramp, Torticollis, Gait disturbance, Gener... ORPHA:98759
Striatonigral Degeneration, Infantile, Mitochondrial
Chorea, Lingual dystonia, Myoclonus, Poor motor coordination, Incoordination, Babinski sign, Diff... OMIM:500003
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Axonal regeneration, Per... OMIM:605285
Spastic Paraplegia 6, Autosomal Dominant
Urinary incontinence, Tremor, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:600363
Spinocerebellar Ataxia Type 2
Gait ataxia, Chorea, Cerebral cortical atrophy, Abnormal substantia nigra morphology, Abnormality... ORPHA:98756
Paraparetic Variant Of Guillain-Barré Syndrome
Impaired distal proprioception, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Migraine, Familial Hemiplegic, 1
Hemiparesis, Hemiplegia, Ataxia, Tremor, Anxiety OMIM:141500
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Choreoathetosis, Ataxia, Positive Romberg sign, Dysmetria, Hypotonia, Dystonia, Loss ... OMIM:618088
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Impaired distal vibration sensation, Onion bulb formation, Flexion contracture, Lower limb muscle... OMIM:607684
Developmental And Epileptic Encephalopathy 14
Spasticity, Cerebral cortical atrophy, Generalized hypotonia, Neuronal loss in central nervous sy... OMIM:614959
Darier Disease
Skin vesicle, Plantar pits, Acrokeratosis, Abnormality of the nail, Macule, Hypermelanotic macule... ORPHA:218
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Distal amyotrophy, Distal sensory impairment, Segmental peri... OMIM:311070
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Urinary incontinence, Optic atrophy, Dysphagia, Bowel incontinence, Dystonia OMIM:618868
Oculopharyngeal Muscular Dystrophy
Progressive ptosis, Gait disturbance, Ptosis, Limb muscle weakness, Facial palsy OMIM:164300
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Writer's cramp, Paroxysmal dystonia ORPHA:163727
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Spastic Ataxia 1, Autosomal Dominant
Gait disturbance, Dystonia, Spastic ataxia, Spastic paraplegia OMIM:108600
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait OMIM:616921
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... OMIM:613908
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Spasticity, Abolished vibration sense, Motor axonal neuropathy, Axonal loss, Decreased motor nerv... OMIM:620068
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Inertia, Parkinsonism, Rigidity, Limb dystonia, Clum... ORPHA:216873
Spinocerebellar Ataxia Type 40
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Unsteady gait,... ORPHA:423275
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Somatic sensory dysfunction, Distal lower... OMIM:600882
Neurodegeneration With Brain Iron Accumulation 6
Tip-toe gait, Spastic tetraplegia, Rigidity, Gait disturbance, Spastic paraparesis, Oromandibular... OMIM:615643
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Neck flexor weakness, Increased intramyocellular lipid droplets, Weakness of facial musculature, ... ORPHA:457050
Alopecia Areata 2
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis OMIM:610753
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Unsteady gait,... OMIM:616948
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Somatic sensory dysfunction, Abnormal pyramidal sign, Fasciculations, Truncal ataxia... ORPHA:95434
Spastic Paraplegia 87, Autosomal Recessive
Upper limb spasticity, Dystonia, Lower limb spasticity, Spastic gait OMIM:619966
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements OMIM:611092
Schimke X-Linked Mental Retardation Syndrome
Spasticity, Choreoathetosis OMIM:312840
Progressive Myoclonic Epilepsy Type 1
Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Chorea, Short stature, Decreased motor nerve conduction velocity, Peripheral axonal degeneration,... OMIM:604168
Hypotrichosis Simplex
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse hair ORPHA:55654
Spastic Paraplegia 19, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:607152
Spinocerebellar Ataxia 12
Cerebral cortical atrophy, Dysdiadochokinesis, Dysmetria, Axial dystonia, Head tremor, Action tre... OMIM:604326
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Bradykinesia, Gait disturbance, Dysdiadochokinesis ORPHA:228169
Neurodegeneration With Brain Iron Accumulation 7
Ataxia, Dysmetria, Tremor, Hypotonia, Loss of ambulation, Lower limb spasticity, Cerebral atrophy... OMIM:617916
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Urocanase Deficiency
Gait ataxia, Aggressive behavior, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait OMIM:276880
Basal Ganglia Calcification, Idiopathic, 6
Choreoathetosis, Involuntary movements, Parkinsonism OMIM:616413
Developmental And Epileptic Encephalopathy 17
Chorea, Athetosis, Dystonia OMIM:615473
Glut1 Deficiency Syndrome 1
Spasticity, Paroxysmal dystonia, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ataxia, Babi... OMIM:606777
Krabbe Disease
Optic atrophy, Progressive spasticity, CNS demyelination, Diffuse cerebral atrophy, Autoimmune th... OMIM:245200
Pelvic Organ Prolapse, Susceptibility To
Bowel incontinence OMIM:176780
Spinocerebellar Ataxia 11
Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Progressive cerebellar ataxia OMIM:604432
Spastic Paraplegia 12, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:604805
Huntington Disease-Like 2
Chorea, Cerebral cortical atrophy, Gait disturbance, Caudate atrophy, Dystonia ORPHA:98934
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Myoclonic seizure, Seizure, Generalized myoclonic seizure, Ataxia, Bilateral tonic-c... OMIM:617831
3-Methylglutaconic Aciduria Type 1
Spastic tetraparesis, Failure to thrive, Progressive cerebellar ataxia, Dystonia ORPHA:67046
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Gait disturbance, Tremor, Craniofacial dyston... OMIM:617284
Spastic Paraplegia, Ataxia, And Mental Retardation
Urinary incontinence, Urinary urgency, Dystonia, Urinary bladder sphincter dysfunction OMIM:607565
Hypotrichosis 4
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes OMIM:146550
Alopecia Universalis Congenita
Absent eyelashes, Alopecia universalis, Absent pubic hair, Absent eyebrow, Absent axillary hair OMIM:203655
Lower Motor Neuron Syndrome With Late-Adult Onset
Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity, Inability to wal... ORPHA:276435
Spastic Paraplegia 8, Autosomal Dominant
Urinary incontinence, Urinary bladder sphincter dysfunction, Low back pain, Urinary urgency, Dysp... OMIM:603563
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy, Generalized hypotonia, Dystonia OMIM:616763
Dystonia 7, Torsion
Blepharospasm, Writer's cramp, Torticollis, Hand tremor, Torsion dystonia, Oromandibular dystonia OMIM:602124
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Dermal atrophy, Alopecia, Skin vesicle, Papule, Hypoplastic fingernail, Myopathy, Aplasia/Hypopla... ORPHA:257
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Knee flexion contracture, Decreased muscl... OMIM:615490
Hereditary Myopathy With Early Respiratory Failure
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:178464
Primary Dystonia, Dyt2 Type
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Generali... ORPHA:99657
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus... OMIM:162350
Nemaline Myopathy 2
Muscle fiber splitting, Flexion contracture, Proximal muscle weakness, Inability to walk, Nemalin... OMIM:256030
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Limb dystonia, Myoclonus, Abnormality of extrapyramidal moto... OMIM:605407
Glutathionuria
Urinary incontinence, Glutathionuria, Tremor, Action tremor, Constipation OMIM:231950
Alopecia Areata 1
Trachyonychia, Alopecia universalis, Alopecia totalis, Nail pits, Patchy alopecia OMIM:104000
Spinocerebellar Ataxia 38
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia, Ataxia, Tremor, Peripheral axonal neuropathy... OMIM:615957
Mitochondrial Membrane Protein-Associated Neurodegeneration
Urinary incontinence, Optic atrophy, Hand tremor, Dysphagia, Bowel incontinence, Dystonia ORPHA:289560
Huntington Disease-Like 3
Bowel incontinence, Urinary incontinence, Dystonia OMIM:604802
Spinocerebellar Ataxia Type 25
Gait ataxia, Facial myokymia, Spastic dysarthria, Impaired distal tactile sensation, Diffuse cere... ORPHA:101111
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturban... ORPHA:363710
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Chorea, Spasticity, Deeply set eye, Self-injurious behavior, Inability to walk, Oculogyric crisis... OMIM:614254
Pontocerebellar Hypoplasia, Type 2C
Chorea, Dystonia OMIM:612390
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Proximal muscle weakness, Generalized amyotrophy, Bulbar palsy, Abnormal lo... ORPHA:275872
Developmental And Epileptic Encephalopathy 37
Chorea, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Cogwheel rigidity, Hy... OMIM:616981
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Gait ataxia, Impaired vibration sensation in the lower limbs, Abnormal sensory nerve conduction v... ORPHA:88628
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Increased variability in muscle fiber diameter, Neck flexor weakness, Proximal muscle weakness, P... OMIM:254110
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Lower limb muscle weakness, Torticollis, Ataxia, Tremor, Peripheral axon... OMIM:607317
Spastic Paraplegia Type 2
Bowel incontinence, Optic atrophy, Spastic/hyperactive bladder ORPHA:99015
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Leukodystrophy, Dystonia, Peripheral axonal neuropathy, Ataxia OMIM:619196
Hypotrichosis And Recurrent Skin Vesicles
Sparse body hair, Sparse eyebrow, Skin vesicle, Sparse scalp hair, Leukonychia, Sparse axillary h... OMIM:613102
Myopathy, Distal, 1
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Proximal muscle weakness, High... OMIM:160500
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations OMIM:615048
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Dysdiadochokinesis, Ataxia, Spastic paraplegia, Spastic tetraparesis, Dysmyelinati... OMIM:612319
Autosomal Spastic Paraplegia Type 72
Rigidity, Postural tremor, Impaired vibration sensation at ankles, Spastic gait ORPHA:401849
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Somatic sensory dysfunction, Muscle fiber splitting, Increased variability in muscle fiber diamet... OMIM:616924
Spinocerebellar Ataxia 30
Ataxia OMIM:613371
Huntington Disease
Neuronal loss in central nervous system, Rigidity, Cerebellar atrophy, Gliosis OMIM:143100
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Seizure, Ataxia ORPHA:404493
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Blepharospasm, Multiple joint contractures, Inability to walk, Writer's cramp... OMIM:128100
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Axial hypotonia, Dystonia, Spastic tetraplegia OMIM:251280
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Head titubation, Frequ... OMIM:611302
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal ... OMIM:158600
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Sparse body hair, Alopecia, Dystrophic toenail, Dermal atrophy, Alopecia of scalp, Onychogryposis... OMIM:617294
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Milia, Localized skin lesion, Small nail, Hyperkeratotic papule, Skin vesicle, Keloids, Atrophic ... ORPHA:79410
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ... OMIM:613204
Amyotrophic Lateral Sclerosis 2, Juvenile
Difficulty walking, Hypertonia, Distal amyotrophy, Arm dystonia, Spasticity, Spastic diplegia, Sp... OMIM:205100
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:604563
Dravet Syndrome
Myoclonic seizure, Generalized clonic seizure, Abnormal pyramidal sign, Focal aware seizure, Gene... OMIM:607208
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Epicanthus, Iris cyst, Ptosis, Upslanted palpebral fissure OMIM:620086
Spastic Paraplegia 37, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:611945
Basal Ganglia Calcification, Idiopathic, 5
Chorea, Athetosis, Parkinsonism OMIM:615483
Pettigrew Syndrome
Gait ataxia, Spasticity, Deeply set eye, Self-injurious behavior, Choreoathetosis OMIM:304340
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, Gait disturbance, EMG: myopathic abnormalities, ... OMIM:605820
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Weight loss, Generalized hypotonia, Cachexia, Failure to thrive, Hypotonia, Axial hy... OMIM:612075
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal choreoathetosis, Paroxysmal dystonia OMIM:602066
Tetanus
Elevated urinary norepinephrine, Abnormal autonomic nervous system physiology, Rigors, Abdominal ... ORPHA:3299
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... ORPHA:399058
Dystonia, Dopa-Responsive
Gait ataxia, Impaired distal vibration sensation, Spasticity, Dysdiadochokinesis, Postural tremor... OMIM:128230
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Tremor OMIM:616187
Myasthenic Syndrome, Congenital, 18
Knee flexion contracture, Ptosis, Difficulty walking, Ataxia OMIM:616330
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Ataxia OMIM:260970
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Axonal loss, Gait disturbance, Caudate atrophy, Cerebral atrophy, Abnormal upper moto... OMIM:221770
Aicardi-Goutieres Syndrome 2
Dystonia, Cerebral atrophy, Spastic paraplegia OMIM:610181
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Irregular myelin loops, Distal sensory i... OMIM:601382
Mitochondrial Complex I Deficiency, Nuclear Type 23
Generalized hypotonia, Hypotonia, Skeletal muscle atrophy, Dystonia, Hypertrichosis OMIM:618244
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Denervation of the diaphragm, Spinal muscular atrophy, Diaphragmatic eve... OMIM:604320
Dystonia 9
Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Dystonia OMIM:601042
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Abnormal pyramidal sign, Titubation, Abnormality of extrapyramidal motor function, At... ORPHA:280219
Autosomal Dominant Spastic Ataxia Type 1
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria... ORPHA:251282
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Gait ataxia, Limb ataxia, Babinski sign, Dysmetr... OMIM:610245
Leukodystrophy, Hypomyelinating, 14
Spasticity, Generalized hypotonia, Cerebral atrophy, Cerebellar atrophy, Dystonia OMIM:617899
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Decreased nerve conduction velocity, Distal amyotrophy, Distal... OMIM:601455
Perineural Cyst
Urinary incontinence, Hip pain, Urinary bladder sphincter dysfunction, Lower limb pain, Foot pain... ORPHA:65250
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Spasticity, Spastic ataxia, Tip-toe gait, Titubation, Torticollis, Intention... ORPHA:397946
Guanidinoacetate Methyltransferase Deficiency
Chorea, Abnormality of extrapyramidal motor function, Ataxia, Progressive extrapyramidal movement... ORPHA:382
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Scissor gait, Tremor, Dystonia, Loss of ambulation, Cerebral atrophy, Oromandibular d... ORPHA:521406
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Spastic dysarthria, Intention tremor, Babinski sign, Action tremor, F... ORPHA:314978
Multiple Mitochondrial Dysfunctions Syndrome 6
Spasticity, Optic atrophy, Inability to walk, Ataxia, Failure to thrive, Dysmetria, Hypotonia, Dy... OMIM:617954
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis, Neuronal loss in central nervous system, Abnormal lower motor neuron morphology, Amy... OMIM:105550
Classic Glucose Transporter Type 1 Deficiency Syndrome
Chorea, Spasticity, Extrapyramidal dyskinesia, Hemiparesis, Apraxia, Myoclonus, Choreoathetosis, ... ORPHA:71277
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Deeply set eye, Intention tremor, Ataxia ORPHA:137831
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars... OMIM:615059
Neuromyelitis Optica Spectrum Disorder
Neuronal loss in central nervous system, Somatic sensory dysfunction, Myelitis, Peripheral demyel... ORPHA:71211
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia OMIM:261630
Spinocerebellar Ataxia Type 20
Gait ataxia, Tremor by anatomical site, Abnormal pyramidal sign, Upper limb postural tremor, Atax... ORPHA:101110
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Intermittent diarrhea, Nephrotic syndrome, ... ORPHA:330001
Mitochondrial Dna Depletion Syndrome 18
Falls, Hand muscle atrophy, Failure to thrive, Weakness of facial musculature, Foot dorsiflexor w... OMIM:618811
Myasthenic Syndrome, Congenital, 17
Ptosis, Difficulty walking, Type 1 muscle fiber predominance OMIM:616304
Zebra Body Myopathy
Muscle fiber splitting, Proximal muscle weakness, Gowers sign, Facial palsy, Autophagic vacuoles,... ORPHA:97240
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Dystonia, Spastic tetraplegia OMIM:618646
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Ataxia, Neuronal loss in central nervous system, Tremor, Cerebral atrophy, Dystonia OMIM:615924
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... OMIM:607080
Spinocerebellar Ataxia Type 28
Gait ataxia, Spasticity, Rigidity, Limb dystonia, Limb ataxia, Head tremor, Kinetic tremor, Dystonia ORPHA:101109
Autosomal Dominant Spastic Paraplegia Type 13
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction ORPHA:100994
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor, Unsteady gait OMIM:615768
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Brain atrophy, Generalized amyotrophy, Shoulder girdle muscle weakness, Gait disturbance, Pelvic ... OMIM:167320
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, Gowers sign, Loss of ability to walk in early childhood, Decreased activity of... OMIM:609560
Spinocerebellar Ataxia 14
Gait ataxia, Impaired vibration sensation at ankles, Focal dystonia, Dysmetria, Cerebellar atroph... OMIM:605361
Leukodystrophy, Hypomyelinating, 18
Spasticity, Flexion contracture, Spastic tetraplegia, Progressive spasticity, Failure to thrive, ... OMIM:618404
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Alopecia universalis, Patchy alopecia ORPHA:701
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Onion bulb formation, Spastic ataxia, Dysdiadochokinesis, Lower limb muscle weakness,... OMIM:614487
Inclusion Body Myositis
Proximal muscle weakness, Abnormal muscle fiber morphology, Ragged-red muscle fibers, Inflammator... ORPHA:611
Adult Krabbe Disease
Somatic sensory dysfunction, Progressive spastic paraparesis, Spasticity, Peripheral demyelinatio... ORPHA:206448
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Somatic sensory dysfunction, Decreased motor nerve conduction velocity, Distal amyotrophy, Decrea... OMIM:615376
Alexander Disease Type I
Spasticity, Cachexia, Generalized hypotonia, Ataxia, Failure to thrive, Hypotonia ORPHA:363717
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Weight loss, Cachexia, Generalized hypotonia, Ataxia, Hypotonia, Slender build OMIM:613662
Adult-Onset Distal Myopathy Due To Vcp Mutation
Urinary incontinence, Back pain, Facial diplegia, Myalgia, Decreased nerve conduction velocity, T... ORPHA:329478
Leukoencephalopathy, Cystic, Without Megalencephaly
Spasticity, Athetosis, Dystonia, Ataxia OMIM:612951
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor OMIM:607458
Xeroderma Pigmentosum, Complementation Group F
Deeply set eye, Decreased body weight, Ataxia, Numerous pigmented freckles, Freckling, Tremor OMIM:278760
Huntington Disease-Like 3
Bowel incontinence, Urinary incontinence, Dystonia ORPHA:157946
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... ORPHA:79262
Childhood Disintegrative Disorder
Bowel incontinence, Urinary incontinence ORPHA:168782
Tremor-Ataxia-Central Hypomyelination Syndrome
Impaired vibration sensation in the lower limbs, Spasticity, Deeply set eye, Postural tremor, Spa... ORPHA:447896
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis OMIM:158580
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Dysmetria, Loss of ambulation, Tremor, Unsteady gait OMIM:617917
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Abnormal fingernail morphology,... ORPHA:2722
Neuronal Intranuclear Inclusion Disease
Urinary incontinence, Decreased motor nerve conduction velocity, Episodic vomiting, Decreased sen... OMIM:603472
Dowling-Degos Disease
Palmar pits, Skin vesicle, Hyperpigmented papule, Hyperkeratotic papule, Digital pitting scar, Ep... ORPHA:79145
Autosomal Dominant Spastic Paraplegia Type 6
Urinary incontinence, Postural tremor ORPHA:100988
Spastic Paraplegia 54, Autosomal Recessive
Urinary incontinence, Optic nerve hypoplasia, Constipation, Dysphagia, Bowel incontinence OMIM:615033
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Progressive spastic paraplegia, Spasticity, Fasciculations, Deeply set eye, Ataxia, Hypertelorism... ORPHA:464282
Spastic Paraplegia 36, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:613096
Nemaline Myopathy 4
Flexion contracture, High palate, Gowers sign, Type 1 muscle fiber predominance, Facial diplegia,... OMIM:609285
Dystonia 21
Torticollis, Blepharospasm, Laryngeal dystonia OMIM:614588
Spinocerebellar Ataxia, Autosomal Recessive 32
Gait ataxia, Somatic sensory dysfunction, Abnormal nerve conduction velocity, Postural tremor, To... OMIM:619862
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia OMIM:257970
Spinocerebellar Ataxia Type 11
Gait imbalance, Progressive cerebellar ataxia, Dystonia, Difficulty walking ORPHA:98767
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Proximal muscle weakness, Abnormal peripheral nervous system morphology, ... OMIM:609524
Early-Onset X-Linked Optic Atrophy
Gait ataxia, Dysdiadochokinesis, Choreoathetosis, Babinski sign, Intention tremor ORPHA:98890
Huntington Disease-Like 2
Chorea, Inertia, Weight loss, Rigidity, Apathy, Action tremor, Anxiety, Irritability, Dystonia, B... OMIM:606438
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair ORPHA:505
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Calf muscle... OMIM:618848
Developmental And Epileptic Encephalopathy 16
Delayed myelination, Optic atrophy, Generalized hypotonia, Cerebral atrophy, Dystonia, Severe mus... OMIM:615338
Developmental And Epileptic Encephalopathy 69
Corpus callosum atrophy, Cerebral cortical atrophy, Spastic tetraplegia, Inability to walk, Axial... OMIM:618285
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Spinocerebellar Ataxia Type 1
Chorea, Abnormal nerve conduction velocity, Gait imbalance, Abnormality of somatosensory evoked p... ORPHA:98755
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Proximal Myopathy With Extrapyramidal Signs
Chorea, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fiber... ORPHA:401768
Developmental And Epileptic Encephalopathy 24
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... OMIM:615871
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Spasticity, Tremor, Ataxia OMIM:278780
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Impaired distal vibration sensation, Motor conduction block, Denervati... ORPHA:99948
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Melanocytic nevus, Deeply set eye, Truncal obesity OMIM:300471
Spinocerebellar Ataxia, Autosomal Recessive 17
Gait ataxia, Truncal ataxia, Appendicular hypotonia, Limb ataxia, Ataxia, Broad-based gait, Dysme... OMIM:616127
Leber Optic Atrophy And Dystonia
Spasticity, Upper motor neuron dysfunction, Athetosis, Dystonia, Bradykinesia OMIM:500001
Spastic Paraplegia 85, Autosomal Recessive
Urinary incontinence, Torticollis, Optic atrophy, Dysphagia OMIM:619686
Salla Disease
Spasticity, Athetosis, Ataxia, Inability to walk OMIM:604369
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2