Gene Summary

Name:
ATPase, Ca++ transporting, plasma membrane 1
Synonyms:
E130111D10Rik,  PMCA1,  2810442I22Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal vibrissa morphology Atp2b1tm1b(KOMP)Wtsi HET Early adult 1.15×10-05
preweaning lethality, complete penetrance Atp2b1tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased circulating calcium level Atp2b1tm1b(KOMP)Wtsi HET   Early adult 3.12×10-05
preweaning lethality, incomplete penetrance Atp2b1tm1b(KOMP)Wtsi HOM   Early adult 0.00
embryonic lethality prior to organogenesis Atp2b1tm1b(KOMP)Wtsi HOM   E9.5 0.00
absent vibrissae Atp2b1tm1b(KOMP)Wtsi HET Early adult 1.28×10-06
abnormal auditory brainstem response Atp2b1tm1b(KOMP)Wtsi HET   Early adult 3.73×10-06
abnormal epididymis morphology Atp2b1tm1b(KOMP)Wtsi HET Early adult 0.00
enlarged epididymis Atp2b1tm1b(KOMP)Wtsi HET Early adult 0.00

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 50% (1 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote Not available
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 5)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 5)
Embryo N/A heterozygote 0.0% (0 of 5)
Eye N/A heterozygote 0.0% (0 of 5)
Footplate N/A heterozygote 0.0% (0 of 5)
Forebrain N/A heterozygote 0.0% (0 of 5)
Forelimb N/A heterozygote 0.0% (0 of 5)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 5)
Head N/A heterozygote 0.0% (0 of 5)
Heart N/A heterozygote 0.0% (0 of 5)
Hindbrain N/A heterozygote 0.0% (0 of 5)
Hindlimb N/A heterozygote 0.0% (0 of 5)
Liver N/A heterozygote 0.0% (0 of 5)
Lung N/A heterozygote 0.0% (0 of 5)
Mandibular process N/A heterozygote 0.0% (0 of 5)
Maxillary process N/A heterozygote 0.0% (0 of 5)
Midbrain N/A heterozygote 0.0% (0 of 5)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 5)
Chorioallantoic placenta N/A heterozygote 0.0% (0 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 5)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 5)
Tail N/A heterozygote 0.0% (0 of 5)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 0.0% (0 of 2)

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)
blood 0.0%
bone marrow 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)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
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 adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
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)
quadriceps 0.0%
sciatic nerve 0.0%
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)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
axial skeleton 0.0%
brain 1.36% (6 of 440)
central nervous system ganglion 0.0%
ear 0.0%
embryo 0.22% (1 of 458)
eye 0.22% (1 of 457)
footplate 0.21% (1 of 466)
forebrain 0.22% (1 of 455)
forelimb 0.22% (1 of 452)
gut 1.85% (1 of 54)
handplate 0.22% (1 of 460)
head 0.87% (4 of 461)
heart 0.22% (1 of 455)
hindbrain 1.08% (5 of 463)
hindlimb 0.0%
liver 0.22% (1 of 454)
lung 0.22% (1 of 453)
mandibular process 0.0%
maxillary process 0.22% (1 of 445)
midbrain 0.22% (1 of 458)
nose 1.45% (1 of 69)
oral cavity 0.22% (1 of 451)
placenta 15.38% (6 of 39)
skeleton 1.43% (1 of 70)
skin 0.22% (1 of 458)
spinal cord 1.59% (1 of 63)
tail 0.22% (1 of 465)
tail somite group 0.22% (1 of 455)
trachea 0.0%
urinary system 1.96% (1 of 51)

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

64 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

20 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

Human diseases caused by Atp2b1 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 Atp2b1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair, Low-set ears OMIM:619910

The table below shows human diseases predicted to be associated to Atp2b1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atypical Pantothenate Kinase-Associated Neurodegeneration
Rigidity, Emotional lability, Spasticity, Limb dystonia, Gait disturbance, Clumsiness, Focal dyst... ORPHA:216873
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Gait disturbance, Apathy, Astrocytosis, Restlessness, Disinhibition, Abul... ORPHA:275864
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Gait disturbance, Apathy, Astrocytosis, Restlessness, Disinhibition, Fron... OMIM:600795
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Tetraparesis, Frequent falls, Gait disturbance, Ataxia, Astrocytosis, Cogwheel rigidi... ORPHA:225154
Huntington Disease
Inability to walk, Agitation, Rigidity, Depression, Mental deterioration, Gait imbalance, Poor fi... ORPHA:399
Huntington Disease-Like 1
Restlessness, Anxiety, Rigidity, Chorea, Aggressive behavior, Basal ganglia gliosis, Depression, ... OMIM:603218
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Parkinsonism, Ataxia, Anxiety, Rigidity, Chorea, Tremor, Myoclonus, Upper... ORPHA:401901
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Ataxia, Falls, Bruxism, Inappropriate laughter, Chorea, Abnormal repetitive ma... OMIM:619150
Spinocerebellar Ataxia 17
Parkinsonism, Limb ataxia, Ataxia, Broad-based gait, Apraxia, Dementia, Frontal lobe dementia, Ri... OMIM:607136
Inherited Creutzfeldt-Jakob Disease
Progressive cerebellar ataxia, Astrocytosis, Progressive forgetfulness, Slurred speech, Vestibula... ORPHA:282166
Optic Atrophy 2
Tremor, Babinski sign, Optic atrophy, Dysdiadochokinesis OMIM:311050
Spinocerebellar Ataxia 48
Parkinsonism, Ataxia, Anxiety, Cachexia, Irritability, Chorea, Tremor, Gait ataxia, Dysphagia, Ba... OMIM:618093
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Parkinsonism, Gait disturbance, Somatic sensory dysfunction, Apraxia, Frontal lobe de... OMIM:221820
Huntington Disease-Like 2
Apathy, Anxiety, Rigidity, Chorea, Inertia, Bradykinesia, Irritability, Action tremor, Depression... OMIM:606438
Basal Ganglia Calcification, Idiopathic, 5
Parkinsonism, Hand tremor, Apathy, Cognitive impairment, Anxiety, Postural tremor, Dementia, Moto... OMIM:615483
Paroxysmal Exertion-Induced Dyskinesia
Paresthesia, Dystonia, Ataxia, Irritability, Chorea, Torsion dystonia, Involuntary movements, Agg... ORPHA:98811
Huntington Disease-Like 2
Parkinsonism, Gait disturbance, Dementia, Memory impairment, Chorea, Involuntary movements, Dysto... ORPHA:98934
Spinocerebellar Ataxia, Autosomal Recessive 27
Spasticity, Frequent falls, Torticollis, Gait disturbance, Apathy, Spastic ataxia, Aggressive beh... OMIM:618369
Huntington Disease-Like 1
Simultanapraxia, Gliosis, Slurred speech, Poor fine motor coordination, Dysmetria, Gait disturban... ORPHA:157941
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Athetosis, Dysphagia, Gliosis, Paralysis, Dystonia OMIM:300857
Chorea, Benign Hereditary
Frequent falls, Gait disturbance, Anxiety, Dementia, Chorea OMIM:118700
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Chorea, Self-injurious behavior, Stereotypical hand wringing, Dystonia OMIM:618760
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Abnormal pyramidal sign, Ataxia, Astrocytosis, Cognitive impairment, Dementia, Abnorm... ORPHA:204
Striatonigral Degeneration, Infantile, Mitochondrial
Frequent falls, Difficulty walking, Clonus, Motor tics, Paroxysmal choreoathetosis, Chorea, Myocl... OMIM:500003
Juvenile Huntington Disease
Progressive cerebellar ataxia, Ataxia, Hyperactivity, Broad-based gait, Dementia, Rigidity, Irrit... ORPHA:248111
Huntington Disease
Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Depression OMIM:143100
Pick Disease Of Brain
Polyphagia, Apathy, Disinhibition, Inappropriate laughter, Frontotemporal dementia, Irritability,... OMIM:172700
Sydenham Chorea
Emotional lability, Inappropriate behavior, Unsteady gait, Irritability, Chorea, Compulsive behav... ORPHA:306731
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Parkinsonism, Weakness due to upper motor neuron dysfunction, Progressive cerebella... ORPHA:275872
Paroxysmal Non-Kinesigenic Dyskinesia
Hyperkinetic movements, Torticollis, Rigidity, Chorea, Involuntary movements, Choreoathetosis, Dy... ORPHA:98810
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Emotional lability, Gait disturbance, Dementia, Chorea, Dysphagia OMIM:607674
Sandhoff Disease, Adult Form
Spasticity, Anxiety, Focal dystonia, Tremor, Gait ataxia, Dysphagia, Mental deterioration, Fascic... ORPHA:309169
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Hyperkinetic movements, Inability to walk, Bruxism, Inappropriate laughter, Oculogyri... OMIM:614254
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Hyperkinetic movements, Unsteady gait, Chorea, Tremor, Hemiballismus OMIM:616921
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Chorea, Tremor, Myoclonus, Torsi... OMIM:314250
Neurodegeneration With Brain Iron Accumulation
Spasticity, Abnormality of extrapyramidal motor function, Rigidity, Chorea, Optic atrophy, Dystonia ORPHA:385
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Ataxia, Chorea, Tremor, Dystonia OMIM:618425
Childhood-Onset Benign Chorea With Striatal Involvement
Parkinsonism with favorable response to dopaminergic medication, Anxiety, Chorea ORPHA:494541
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Rigidity, Chorea, Dysdiadochokinesis, Br... OMIM:213600
Autosomal Dominant Spastic Ataxia Type 1
Limb ataxia, Jerky head movements, Dystonia, Difficulty walking, Spastic dysarthria, Impaired pro... ORPHA:251282
Dystonia 11, Myoclonic
Agoraphobia, Torticollis, Alcoholism, Anxiety, Writer's cramp, Tremor, Panic attack, Myoclonus, D... OMIM:159900
Dentatorubral-Pallidoluysian Atrophy
Parkinsonism, Ataxia, Dementia, Chorea, Myoclonus, Choreoathetosis, Dystonia OMIM:125370
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Unsteady gait, Chorea, Tremor, Hemiballismus ORPHA:494526
Intellectual Developmental Disorder, Autosomal Recessive 58
Spastic diplegia, Self-injurious behavior, Pica, Abnormal repetitive mannerisms, Aggressive behav... OMIM:617270
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depression, Rigi... OMIM:619491
Episodic Ataxia, Type 1
Tremor, Slurred speech, Spastic gait, Babinski sign, Incoordination, Episodic ataxia OMIM:160120
Spinocerebellar Ataxia 7
Spasticity, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chorea, ... OMIM:164500
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Abnormal head movements, Abnormality of extrapyramidal motor function, Pro... ORPHA:382
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia,... ORPHA:95434
Pandas
Emotional lability, Abnormal fear/anxiety-related behavior, Agoraphobia, Obsessive-compulsive tra... ORPHA:66624
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Inappropriate behavior, Spasticity, Gait disturbance, Disinhibition, Apraxia, Abnormal upper moto... OMIM:221770
Spinocerebellar Ataxia Type 1
Gait disturbance, Progressive cerebellar ataxia, Memory impairment, Cognitive impairment, Postura... ORPHA:98755
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Ataxia, Cogwheel rigidity, Anxiety, Attention deficit hyperactivity disorder, Motor... OMIM:619725
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Abnormal pyramidal sign, Parkinsonism, Hypoesthesia, Ataxia, Memory impairment, Chorea, Dysphagia... OMIM:618317
Parkinsonism-Dystonia 3, Childhood-Onset
Hyperkinetic movements, Parkinsonism, Impaired social interactions, Ataxia, Anxiety, Chorea, Aggr... OMIM:619738
3-Methylglutaconic Aciduria, Type Iii
Spasticity, Ataxia, Abnormality of extrapyramidal motor function, Chorea, Babinski sign, Optic at... OMIM:258501
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Gait disturbance, Ataxia, Hemiplegia, Abnormality of extrapy... OMIM:614561
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia OMIM:613227
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Tremor, Spastic tetraparesis, Abnormal repetitive mannerisms, Optic atrophy, Aggre... OMIM:619470
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Parkinsonism, Apathy, Paraparesis, Apraxia, Abnormal lower motor neuron morphology,... OMIM:105550
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonic spasms, Unsteady gait, Ataxia, Clumsiness, Cognitive impairment, Motor dete... ORPHA:79263
N-Acetylaspartate Deficiency
Self-mutilation, Unsteady gait, Broad-based gait, Abnormal repetitive mannerisms, Decreased body ... OMIM:614063
Glut1 Deficiency Syndrome 1
Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Babinski sign, Choreoathetosis, Paroxysmal... OMIM:606777
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Spasticity, Impaired social interactions, Inability to walk, Self-injurious behavior, Abnormal re... OMIM:617820
Frontotemporal Dementia
Polyphagia, Parkinsonism, Apathy, Disinhibition, Inappropriate laughter, Dementia, Amyotrophic la... OMIM:600274
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired social interactions, Unsteady gait, Abnormal repetitive mannerisms, Impaired ability to ... OMIM:608636
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Self-mutilation, Overweight, Gait disturbance, Anxiety, Tremor, Gliosis, ... ORPHA:457240
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Agitation, Anxiety, Failure to thrive, Tremor, Myoclonus, Compulsive behaviors OMIM:619651
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Hemiparesis, Ataxia, Apraxia, Chorea, Myoclonus, Paralysis, Hypertonia, Extrapyramida... ORPHA:71277
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Spasticity, Dystonia, Inability to walk, Chorea, Self-injurious behavior, Gait ataxia, Stereotypi... OMIM:618917
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hyperkinetic movements, Ataxia, Clonus, Agitation, Restlessness, Oculogyric crisis, Abnormality o... ORPHA:13
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Spasticity, Abnormal pyramidal sign, Parkinsonism, Inability to walk, Ataxia, Abnormality of extr... OMIM:617672
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness OMIM:618221
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Limb ataxia, Unsteady gait, Ataxia, Tremor, Gait ataxia, Gliosis, Incoordination, Dys... OMIM:213200
Neurodegeneration With Brain Iron Accumulation 3
Emotional lability, Spasticity, Parkinsonism, Subcortical dementia, Ataxia, Blepharospasm, Disinh... OMIM:606159
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Hyperactivity, Unsteady gait, Bipolar affective disorder, Anxiety,... ORPHA:485350
Striatonigral Degeneration, Infantile
Spasticity, Failure to thrive, Dysphagia, Optic atrophy, Choreoathetosis, Dystonia OMIM:271930
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hand tremor, Dysphagia, Gait ataxia, Abnormal repetitive mannerisms, Recurrent hand flapping, Bro... OMIM:617862
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Abnormal pyramidal sign, Impaired pain sensation, Inability to walk, Hyperactivity, L... ORPHA:500180
Spinocerebellar Ataxia 37
Frequent falls, Unsteady gait, Ataxia, Dysphagia, Tremor OMIM:615945
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Spasticity, Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age ORPHA:356996
Rabies
Paresthesia, Anxiety, Attention deficit hyperactivity disorder, Vocal cord paresis, Cerebral pals... ORPHA:770
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Gait disturbance, Abnormal sensory nerve conduction velocity, Impaired distal ... ORPHA:276435
Migraine, Familial Hemiplegic, 1
Hemiparesis, Ataxia, Agitation, Anxiety, Hemiplegia, Tremor OMIM:141500
Pontocerebellar Hypoplasia, Type 4
Spasticity, Dysphagia, Gliosis, Myoclonus, Hypertonia OMIM:225753
Developmental And Epileptic Encephalopathy 37
Spasticity, Hyperkinetic movements, Gait disturbance, Cogwheel rigidity, Rigidity, Chorea, Myoclo... OMIM:616981
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Ataxia, Cognitive impairment, Tremor, Babinski sign OMIM:611105
Facial Onset Sensory And Motor Neuronopathy
Dysphagia, Paresthesia, Fasciculations ORPHA:85162
Striatal Degeneration, Autosomal Dominant 2
Parkinsonism, Chorea OMIM:616922
Progressive Supranuclear Palsy
Unsteady gait, Falls, Blepharospasm, Cognitive impairment, Dementia, Rigidity, Memory impairment,... ORPHA:683
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Emotional lability, Agitation, Abnormal repetitive mannerisms, Involuntary movements, Aggressive ... OMIM:617171
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Limb hypertonia, Anxiety, Chorea, Myoclonus, Resting tremor, Involuntary movements, Choreoathetos... OMIM:606703
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Distal sensory impairment, Hand tremor, Tetraplegia, Gliosis, Fasciculations, Degeneration of ant... OMIM:604484
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Spinocerebellar Ataxia 43
Distal sensory impairment, Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Primary Dystonia, Dyt13 Type
Torsion dystonia, Limb dystonia, Torticollis, Jerky head movements, Postural tremor, Generalized ... ORPHA:98807
Spinocerebellar Ataxia Type 2
Parkinsonism, Kinetic tremor, Progressive cerebellar ataxia, Postural tremor, Dementia, Chorea, G... ORPHA:98756
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Paroxysmal Kinesigenic Dyskinesia
Chorea, Writer's cramp, Athetosis, Involuntary movements, Dystonia ORPHA:98809
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Porphyria, Acute Hepatic
Paresthesia, Respiratory paralysis, Paralysis, Failure to thrive OMIM:612740
Progressive Supranuclear Palsy-Corticobasal Syndrome
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Jerky head movements, Somatic sensory dy... ORPHA:240103
Pontocerebellar Hypoplasia, Type 2D
Spastic tetraplegia, Clonus, Irritability, Chorea, Appendicular spasticity OMIM:613811
Neurodevelopmental Disorder With Involuntary Movements
Spasticity, Hyperkinetic movements, Chorea, Self-injurious behavior, Athetosis, Dysphagia, Involu... OMIM:617493
Machado-Joseph Disease
Spasticity, Parkinsonism, Limb ataxia, Dystonia, Progressive cerebellar ataxia, Ataxia, Facial-li... OMIM:109150
Hereditary Late-Onset Parkinson Disease
Frequent falls, Parkinsonism, Dystonia, Apathy, Agitation, Akinesia, Parkinsonism with favorable ... ORPHA:411602
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Cachexia, Upper limb spasticity, Dystonia, Ataxia, Head titubation, Amyotrophi... ORPHA:300605
Spinocerebellar Ataxia 50
Froment sign, Ataxia, Postural tremor, Apraxia, Chorea, Head tremor, Myoclonus, Action tremor OMIM:620158
Atypical Rett Syndrome
Spasticity, Impaired pain sensation, Hand apraxia, Limb myoclonus, Inability to walk, Gait distur... ORPHA:3095
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Spasticity, Gait disturbance, Ataxia, Blepharospasm, Clumsiness, Loss of ambulation, Optic disc p... OMIM:617282
Foxg1 Syndrome
Spasticity, Hyperkinetic movements, Impaired social interactions, Inability to walk, Difficulty w... ORPHA:561854
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Hyperkinetic movements, Small for gestational age, Gait disturbance, Anxiety, Truncal... OMIM:300957
Developmental And Epileptic Encephalopathy 6B
Hyperkinetic movements, Inability to walk, Ataxia, Chorea, Myoclonus, Abnormal repetitive manneri... OMIM:619317
Basal Ganglia Calcification, Idiopathic, 6
Parkinsonism, Cognitive impairment, Dementia, Memory impairment, Involuntary movements, Depressio... OMIM:616413
Parkinson Disease 1, Autosomal Dominant
Parkinsonism, Gait disturbance, Loss of ambulation, Dementia, Rigidity, Shuffling gait, Dysphagia... OMIM:168601
Dystonia 12
Emotional lability, Parkinsonism, Torticollis, Unsteady gait, Anxiety, Tremor, Bradykinesia, Dysp... OMIM:128235
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations OMIM:615048
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Frequent falls, Tetraparesis, Abnormal pyramidal sign, Inability to walk, Cogwheel rigidity, Para... OMIM:607483
Baker-Gordon Syndrome
Athetoid cerebral palsy, Hyperkinetic movements, Inability to walk, Ataxia, Self-injurious behavi... OMIM:618218
Pontocerebellar Hypoplasia, Type 2C
Dystonia, Chorea OMIM:612390
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Myoclonus, Intractable, Neonatal
Impaired oral bolus formation, Optic disc pallor, Athetosis, Dysphagia, Chorea, Myoclonus OMIM:617235
Mepan Syndrome
Spasticity, Limb dystonia, Gait disturbance, Ataxia, Axial dystonia, Chorea, Dysphagia, Failure t... ORPHA:508093
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Astrocytosis OMIM:607341
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Cognitive impairment, Motor deterioratio... ORPHA:79262
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Leukoencephalopathy With Vanishing White Matter 1
Emotional lability, Spasticity, Gait disturbance, Unsteady gait, Memory impairment, Gliosis, Opti... OMIM:603896
Hemimegalencephaly
Hemiparesis, Abnormal neuron morphology, Gliosis, Myoclonus, Optic atrophy ORPHA:99802
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Hyperactivity, Anxiety, Failure to thrive, Gait ataxia, Abnormal repet... OMIM:609425
Developmental And Epileptic Encephalopathy 14
Spasticity, Tetraplegia, Gliosis, Clonus OMIM:614959
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Infantile Convulsions And Choreoathetosis
Chorea, Athetosis, Involuntary movements, Choreoathetosis, Dystonia, Paroxysmal dyskinesia ORPHA:31709
Infantile Dystonia-Parkinsonism
Abnormal pyramidal sign, Parkinsonism, Limb hypertonia, Oculogyric crisis, Irritability, Chorea, ... ORPHA:238455
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Ataxia OMIM:618709
Dopa-Responsive Dystonia
Inability to walk, Leg dystonia, Oculogyric crisis, Rigidity, Slurred speech, Dystonia, Emotional... ORPHA:255
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Ataxia, Inappropriate laughter, Happy demeanor, Broad-based gait, Obesity ORPHA:411515
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Dysdiadochokinesis, Diminished motivation, Dysmetria, Dystonia, Impaired social inte... OMIM:615157
Chorea, Remitting, With Nystagmus And Cataract
Chorea OMIM:601372
Huntington Disease-Like 3
Spasticity, Abnormal pyramidal sign, Broad-based gait, Cognitive impairment, Abnormal head moveme... ORPHA:157946
Myoclonus-Dystonia Syndrome
Limb myoclonus, Personality disorder, Torticollis, Dystonia, Anxiety, Writer's cramp, Panic attac... ORPHA:36899
Hyperphenylalaninemia, Bh4-Deficient, C
Progressive neurologic deterioration, Irritability, Tremor, Dysphagia, Myoclonus, Hypertonia, Cho... OMIM:261630
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Tremor, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea OMIM:614055
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Neuroferritinopathy
Emotional lability, Subcortical dementia, Parkinsonism, Leg dystonia, Difficulty walking, Blephar... ORPHA:157846
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Apathy, Falls, Parkinsonism with favorable response to dopaminergic medication, Anxiety, Rigidity... ORPHA:240085
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Autonomic erectile dysfunction, Ataxia, Pseudobulbar paralysis, Autonomic bladder dys... OMIM:169500
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Aggressive behavior, Hyperactivity, Ataxia OMIM:239500
X-Linked Dystonia-Parkinsonism
Frequent falls, Impaired oropharyngeal swallow response, Limb dystonia, Torsion dystonia, Hand tr... ORPHA:53351
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Spasticity, Inability to walk, Hyperactivity, Bruxism, Paroxysmal bursts of laughter, Self-injuri... OMIM:618718
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms, Optic atrophy, Inability to walk, Spastic diplegia OMIM:617830
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Vocal cord paralysis, Decreased motor nerve conduction velocity ORPHA:640
Autosomal Dominant Cerebellar Ataxia
Progressive cerebellar ataxia, Rigidity, Laryngeal dystonia, Fasciculations, Dystonia, Spasticity... ORPHA:99
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Distal sensory impairment, Gliosis, Abnormality of extrapyramidal motor function, Myoclonus OMIM:604218
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
Developmental And Epileptic Encephalopathy 27
Spasticity, Dystonia, Myoclonus, Chorea OMIM:616139
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Impaired vibratory sensation, Tremor ORPHA:217012
Spinocerebellar Ataxia Type 26
Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Progressive gait ataxia,... ORPHA:101112
Supranuclear Palsy, Progressive, 1
Parkinsonism, Limb dystonia, Apathy, Retrocollis, Astrocytosis, Axial dystonia, Falls, Rigidity, ... OMIM:601104
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Apathy, Ataxia, Abnormal head movements, Irritability ORPHA:71518
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Pontocerebellar Hypoplasia, Type 2A
Restlessness, Chorea, Dysphagia, Opisthotonus, Gliosis, Optic atrophy, Extrapyramidal dyskinesia,... OMIM:277470
Parkinsonism-Dystonia 1, Infantile-Onset
Hyperkinetic movements, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Cogwheel rigidity, ... OMIM:613135
Hsd10 Disease
Gait disturbance, Ataxia, Rigidity, Abnormal social behavior, Tremor, Dysphagia, Myoclonus, Optic... ORPHA:391417
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Somatic sensory dysfunction, Difficulty walking ORPHA:423296
Chorea, Benign Familial
Chorea OMIM:215450
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Tremor, Gait ataxia, My... OMIM:607317
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
2P21 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Long eyelashes, Hypocalcemia, Hypogonadism ORPHA:163693
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Emotional lability, Ataxia, Dementia, Abnormality of extrapyramidal motor function, Tremor, Gait ... OMIM:615362
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms, Impaired social interactions, Inability to walk OMIM:606053
Cataract 11, Multiple Types
Hypertonia, Chorea OMIM:610623
Lopes-Maciel-Rodan Syndrome
Spasticity, Abnormal pyramidal sign, Unsteady gait, Agitation, Ankle clonus, Bruxism, Tremor, Bra... OMIM:617435
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Distal sensory impairment, Limb ataxia, Oculomotor apraxia, Dystonia, Ataxia, Impaired distal vib... OMIM:208920
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor OMIM:608687
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Emotional lability, Spasticity, Apathy, Disinhibition, Frontotemporal dementia, Amyotrophic later... OMIM:612069
Intellectual Developmental Disorder, Autosomal Recessive 48
Emotional lability, Self-mutilation, Inability to walk, Inappropriate laughter, Tremor, Waddling ... OMIM:616269
Rapid-Onset Dystonia-Parkinsonism
Emotional lability, Parkinsonism, Torticollis, Limb dystonia, Anxiety, Dysphagia, Gait ataxia, Br... ORPHA:71517
Choreoathetosis, Familial Inverted
Abnormal pyramidal sign, Progressive choreoathetosis, Gait disturbance, Dementia, Rigidity OMIM:118750
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Oral-pharyngeal dysphagia, Paralysis OMIM:616286
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Neurodevelopmental Disorder With Dystonia And Seizures
Spastic tetraplegia, Anxiety, Athetosis, Self-injurious behavior, Chorea, Dystonia OMIM:619922
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Early-Onset X-Linked Optic Atrophy
Emotional lability, Optic disc pallor, Decreased nerve conduction velocity, Dysdiadochokinesis, G... ORPHA:98890
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Parkinsonism with favorable response to dopaminergic medication, Abn... OMIM:605407
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal sensory impairment, Paralysis OMIM:605285
Folinic Acid-Responsive Seizures
Ataxia, Broad-based gait, Difficulty walking, Irritability, Chorea, Spastic tetraparesis, Optic a... ORPHA:79097
Progressive Non-Fluent Aphasia
Parkinsonism, Restlessness, Astrocytosis, Apraxia, Anxiety, Abnormal lower motor neuron morpholog... ORPHA:100070
Pelizaeus-Merzbacher Disease
Inability to walk, Reduction of oligodendroglia, Mental deterioration, Progressive spastic quadri... OMIM:312080
2Q23.1 Microdeletion Syndrome
Polyphagia, Hyperactivity, Ataxia, Paroxysmal bursts of laughter, Self-injurious behavior, Abnorm... ORPHA:228402
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Gait disturbance, Falls, Progressive neurologic deterioration, Action myoclonus, Dem... OMIM:616230
Developmental And Epileptic Encephalopathy 17
Athetosis, Inability to walk, Dystonia, Chorea OMIM:615473
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Inability to walk, Ataxia, Chorea, Gait ataxia, Dysmetria OMIM:618501
Spinocerebellar Ataxia 1
Limb ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Fasciculations, Impaired distal t... OMIM:164400
Leigh Syndrome
Emotional lability, Spasticity, Ataxia, Failure to thrive, Gliosis, Optic atrophy, Dystonia OMIM:256000
Gordon Holmes Syndrome
Dementia, Ataxia, Chorea OMIM:212840
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Chorea, Myoclonu... OMIM:617600
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia, Parkinsonism, Apathy, Agitation, Disinhibition, Apraxia, Frontotemporal dementia, Pro... OMIM:607485
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... ORPHA:98769
Familial Dyskinesia And Facial Myokymia
Difficulty walking, Limb hypertonia, Chorea, Resting tremor, Myoclonus, Dystonia ORPHA:324588
Developmental And Epileptic Encephalopathy 56
Obsessive-compulsive trait, Poor coordination, Ataxia, Anxiety, Attention deficit hyperactivity d... OMIM:617665
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Spasticity, Inability to walk, Ataxia, Progressive neurologic deterioration, Generalized dystonia... ORPHA:70472
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Progressive spasticity, Decreased body weight, Inability to walk, Ataxia, Bruxism, Anxiety, Rigid... OMIM:300260
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Unsteady gait, Clonus, Titubati... ORPHA:397946
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Anxiety, Speech apraxia, Attention deficit hyperactivity disorder, Failure to thrive in infancy, ... OMIM:613670
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Difficulty walking, Progressive extrapyramidal movement disorder, Chorea, Resting tremor,... ORPHA:401768
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Pontocerebellar Hypoplasia, Type 11
Spasticity, Limb ataxia, Inability to walk, Poor coordination, Ataxia, Difficulty walking, Attent... OMIM:617695
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Abnormal pyramidal sign, Hyperactivity, Ataxia, Tremor, Mental deterior... OMIM:615924
Tay-Sachs Disease
Inability to walk, Gliosis, Laryngeal dystonia, Fasciculations, Poor fine motor coordination, Dys... ORPHA:845
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Hyperactivity, Ataxia, Tremor, Optic atrophy, Aggressive behavior OMIM:300983
Spinocerebellar Ataxia Type 17
Spasticity, Abnormal pyramidal sign, Parkinsonism, Torticollis, Gait disturbance, Ataxia, Blephar... ORPHA:98759
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Monomelic Amyotrophy
Tremor, Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Fascicul... ORPHA:65684
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Parkinsonism with favorable response to dopaminergic medication, Postural tremo... ORPHA:314632
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Athetosis, Choreoathetosis, Failure to thrive, Chorea OMIM:309541
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Hippocampal sclerosis, Myoclonus OMIM:615400
Friedreich Ataxia
Spasticity, Limb ataxia, Inability to walk, Falls, Impaired proprioception, Decreased motor nerve... ORPHA:95
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... OMIM:611302
Neurodegeneration With Brain Iron Accumulation 2B
Emotional lability, Spasticity, Hyperactivity, Chorea, Dysdiadochokinesis, Bradykinesia, Intentio... OMIM:610217
Myoclonus, Familial, 1
Frequent falls, Ataxia, Action myoclonus, Action tremor, Myoclonus OMIM:614937
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Paralysis OMIM:105500
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Hypoesthesia, Decreased motor nerve conduction velocity, Hand paresthesia, Vocal co... OMIM:162500
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Frequent falls, Limb myoclonus, Eyelid myoclonus, Inability to walk, Difficulty walking, Clumsine... ORPHA:2590
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Ataxia, Chorea OMIM:618683
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Decreased sensory nerve conduction velocity, Distal sensory impairment, Steppage gait... OMIM:609260
Developmental And Epileptic Encephalopathy 64
Inability to walk, Hemiparesis, Limb hypertonia, Bruxism, Paroxysmal dystonia, Chorea, Self-injur... OMIM:618004
Spinocerebellar Ataxia 40
Unsteady gait, Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, D... OMIM:616053
Spastic Paraplegia 78, Autosomal Recessive
Abnormal pyramidal sign, Spastic tetraplegia, Parkinsonism, Distal sensory impairment, Ataxia, Fa... OMIM:617225
Lethal Congenital Contracture Syndrome 8
Distal sensory impairment, Vocal cord paralysis, Oral-pharyngeal dysphagia, Facial diplegia OMIM:616287
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Distal sensory impairment, Inability to walk, Somatic s... ORPHA:90117
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Distal sensory impairment, Paralysis OMIM:613710
Angelman Syndrome
Polyphagia, Inability to walk, Hyperactivity, Ataxia, Obesity, Anxiety, Inappropriate laughter, O... ORPHA:72
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Unsteady gait, Ataxia, Cognitive impairm... ORPHA:98762
Severe Intellectual Disability And Progressive Spastic Paraplegia
Spasticity, Overweight, Difficulty walking, Shyness, Progressive spastic paraplegia, Spastic dysa... ORPHA:280763
Metachromatic Leukodystrophy, Adult Form
Emotional lability, Spasticity, Frequent falls, Difficulty walking, Clumsiness, Progressive gait ... ORPHA:309271
Spinocerebellar Ataxia Type 28
Spasticity, Parkinsonism, Limb ataxia, Kinetic tremor, Limb dystonia, Cognitive impairment, Rigid... ORPHA:101109
Spinocerebellar Ataxia, X-Linked 1
Unsteady gait, Ataxia, Abnormality of extrapyramidal motor function, Dysphagia, Intention tremor,... OMIM:302500
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Gait disturbance, Substantia nigra gliosis, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:600116
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Steppage gait, Distal sensory impairment, Decreased motor nerve conduction velocity, Fasciculations OMIM:606595
Choreoacanthocytosis
Bruxism, Loss of ambulation, Mental deterioration, Slurred speech, Laryngeal dystonia, Bradyphren... ORPHA:2388
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Gait disturbance, Rigidity, Tremor, Gait ataxia, Delayed social... OMIM:618090
Sporadic Infantile Bilateral Striatal Necrosis
Parkinsonism, Gait disturbance, Babinski sign, Hemiplegia, Titubation, Chorea, Dysphagia, Bradyki... ORPHA:225147
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Difficulty walking, Dementia, Tremor, Dysphagia, Facial palsy, Myoclonus, Tongue ... OMIM:159950
Spastic Paraplegia 50, Autosomal Recessive
Cerebral palsy, Spastic tetraplegia, Ataxia, Limb hypertonia, Optic disc pallor, Gliosis, Babinsk... OMIM:612936
Salt And Pepper Developmental Regression Syndrome
Irritability, Failure to thrive, Myoclonus, Optic atrophy, Choreoathetosis OMIM:609056
Acute Peripheral Arterial Occlusion
Paresthesia, Impaired distal tactile sensation, Paralysis ORPHA:90064
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Emotional lability, Spastic tetraplegia, Parkinsonism, Ataxia, Restlessness, Bruxism, Apraxia, Sh... OMIM:300055
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Myoclonic spasms, Limb hypertonia, Clonus, Abnormal autonomic nervous system physiology, Rigidity... OMIM:614498
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Unsteady gait, Ankle clonus, Cognitive impairment, Tremor, Babinski sign... OMIM:615768
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Anxiety, Decreased amplitude of ... OMIM:619279
Epilepsy, Progressive Myoclonic 7
Tremor, Mental deterioration, Myoclonus, Ataxia OMIM:616187
X-Linked Creatine Transporter Deficiency
Self-mutilation, Hyperactivity, Ataxia, Cachexia, Aganglionic megacolon, Athetosis, Chorea, Hyper... ORPHA:52503
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Small for gestational age, Ataxia, Limb hypertonia, Progressive neurologic deterior... OMIM:261640
Spinocerebellar Ataxia 12
Parkinsonism, Progressive cerebellar ataxia, Axial dystonia, Anxiety, Dysdiadochokinesis, Head tr... OMIM:604326
Xq28 (MECP2) duplication
Progressive spasticity, Inability to walk, Anxiety, Failure to thrive, Dysphagia, Gait ataxia, Ab... DECIPHER:45
Immunodeficiency 83, Susceptibility To Viral Infections
Mental deterioration, Gliosis, Hemiparesis, Lethargy OMIM:613002
Spinocerebellar Ataxia, Autosomal Recessive 31
Self-mutilation, Ataxia, Bruxism, Tremor, Dysphagia, Optic atrophy, Choreoathetosis, Dystonia OMIM:619422
Fragile X Tremor/Ataxia Syndrome
Obsessive-compulsive trait, Parkinsonism, Impaired tandem gait, Disinhibition, Impaired distal vi... OMIM:300623
Alternating Hemiplegia Of Childhood 2
Ataxia, Hemiplegia, Episodic quadriplegia, Mental deterioration, Tetraplegia, Choreoathetosis, Dy... OMIM:614820
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Apathy, Disinhibition, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dys... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Apathy, Disinhibition, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dys... OMIM:616437
Spinocerebellar Ataxia Type 37
Gait disturbance, Somatic sensory dysfunction, Falls, Cogwheel rigidity, Dysdiadochokinesis, Trem... ORPHA:363710
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity OMIM:601382
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Primary Dystonia, Dyt27 Type
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... ORPHA:464440
Ataxia-Telangiectasia-Like Disorder
Frequent falls, Oculomotor apraxia, Ataxia, Chorea, Dysdiadochokinesis, Gait ataxia, Intention tr... ORPHA:251347
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations OMIM:183050
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Frequent falls, Impaired pain sensation, Distal sensory impairment, Paresthesia, Somatic sensory ... ORPHA:99947
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Hearing impairment OMIM:619658
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Small for gestational age, Spastic tetraplegia, Limb dystonia, Clonus, Babinski sign,... OMIM:619847
Combined Saposin Deficiency
Hyperkinetic movements, Myoclonus, Fasciculations, Babinski sign, Optic atrophy OMIM:611721
Obsolete: Early-Onset Schizophrenia
Emotional lability, Polyphagia, Impairment in personality functioning, Suicidal ideation, Abnorma... ORPHA:96369
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Parkinsonism, Hyperactivity, Broad-based gait, Bipolar af... ORPHA:3077
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Spasticity, Difficulty walking, Irritability, Failure to thrive, Abnormal repetitive mannerisms OMIM:617393
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Impaired social interactions, Self-injurious behavior, Stereotypical hand... ORPHA:397933
Paroxysmal Nonkinesigenic Dyskinesia 1
Dysphagia, Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis OMIM:118800
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Corticobasal Syndrome
Limb myoclonus, Parkinsonism, Limb dystonia, Gait disturbance, Oromotor apraxia, Somatic sensory ... ORPHA:454887
Sneddon Syndrome
Hemiparesis, Dementia, Memory impairment, Chorea, Tremor, Mental deterioration ORPHA:820
Sandhoff Disease, Juvenile Form
Abnormal pyramidal sign, Gait disturbance, Ataxia, Cognitive impairment, Abnormality of extrapyra... ORPHA:309162
Late-Infantile/Juvenile Krabbe Disease
Loss of ambulation, Mental deterioration, Neuromuscular dysphagia, Slurred speech, Emotional labi... ORPHA:206443
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Parkinsonism with favorable response to dopaminergic medication, Dementia, Rigi... OMIM:616710
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Impaired vibration sensation at ankles, Unsteady gait, Ataxia, Cognitive... OMIM:616795
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Progressive neurologic deterioration, Rigidity, Irritabi... OMIM:233910
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Hyperkinetic movements, Inability to walk, Bruxism, Myoclonus, Stereotypical hand wringing, Chore... OMIM:618497
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Cln5 Disease
Spasticity, Obsessive-compulsive trait, Inability to walk, Hyperactivity, Ataxia, Poor gross moto... ORPHA:228360
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Dystonia 27
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Isaacs Syndrome
Fasciculations, Distal sensory impairment, Weight loss ORPHA:84142
L-2-Hydroxyglutaric Aciduria
Abnormal pyramidal sign, Ataxia, Abnormality of extrapyramidal motor function, Gliosis, Spastic t... OMIM:236792
Dystonia, Dopa-Responsive
Spasticity, Torticollis, Impaired distal vibration sensation, Cogwheel rigidity, Parkinsonism wit... OMIM:128230
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Apathy, Falls, Short stepped shuffling gait, Rigidity, Bradykinesia, Resting tremor... ORPHA:306692
Christianson Syndrome
Dystonia, Conspicuously happy disposition, Inappropriate laughter, Cachexia, Dysphagia, Gait atax... ORPHA:85278
Spinocerebellar Ataxia 38
Limb ataxia, Ataxia, Tremor, Gait ataxia, Myoclonus OMIM:615957
Epilepsy, Progressive Myoclonic, 12
Ataxia, Difficulty walking, Anxiety, Attention deficit hyperactivity disorder, Mental deteriorati... OMIM:619191
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Intellectual Developmental Disorder, Autosomal Dominant 7
Small for gestational age, Gait disturbance, Hyperactivity, Ataxia, Failure to thrive in infancy,... OMIM:614104
Huntington Disease-Like 3
Spasticity, Abnormal pyramidal sign, Unsteady gait, Ataxia, Abnormality of extrapyramidal motor f... OMIM:604802
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Enhancement of the C-reflex, Myoclonus OMIM:615127
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Paroxysmal dyskinesia, Chorea ORPHA:79137
Juvenile Neuronal Ceroid Lipofuscinosis
Emotional lability, Myoclonic spasms, Parkinsonism, Clumsiness, Cognitive impairment, Anxiety, Lo... ORPHA:79264
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Ataxia, Optic disc pallor, Cachexia, Abnormal autonomic nervou... ORPHA:97229
Dystonia 28, Childhood-Onset
Spasticity, Torticollis, Gait disturbance, Retrocollis, Cognitive impairment, Tip-toe gait, Tremo... OMIM:617284
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Abnormal pyramidal sign, Distal sensory impairment, Ataxia, Impaired distal vibration sensation, ... OMIM:616688
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Impaired pain sensation, Impaired distal vibration sensation, Decreased motor nerve conduction ve... OMIM:607706
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Spasticity, Spastic tetraplegia, Inability to walk, Irritability, Chorea, Optic nerve hypoplasia,... OMIM:617864
Spinocerebellar Ataxia Type 14
Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Cognitive impairment, Ri... ORPHA:98763
Hereditary Geniospasm
Intention tremor, Chin myoclonus, Abnormal social behavior ORPHA:53372
Myopathy With Extrapyramidal Signs
Frequent falls, Hyperactivity, Ataxia, Clonus, Clumsiness, Difficulty walking, Abnormality of ext... OMIM:615673
Manganese Poisoning
Emotional lability, Impairment in personality functioning, Dystonia, Gait disturbance, Cogwheel r... ORPHA:306682
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Giant somatosensory evoked potentials, Myoclonus, Enhancement of the ... OMIM:613608
X-Linked Charcot-Marie-Tooth Disease Type 3
Gait disturbance, Inability to walk, Difficulty walking, Somatic sensory dysfunction, Decreased m... ORPHA:101077
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Frequent falls, Emotional lability, Upper limb hypertonia, Progressive cerebellar ataxia, Progres... ORPHA:254343
Developmental And Epileptic Encephalopathy 40
Spasticity, Small for gestational age, Myoclonus, Spastic tetraparesis, Lethargy, Choreoathetosis OMIM:617065
Neurodegeneration With Brain Iron Accumulation 2A
Abnormal pyramidal sign, Spastic tetraplegia, Impaired social interactions, Unsteady gait, Ataxia... OMIM:256600
Nasu-Hakola Disease
Spasticity, Oculomotor apraxia, Disinhibition, Frontal lobe dementia, Irritability, Chorea, Memor... ORPHA:2770
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Ataxia, Loss of ambulation, Dysphagia, Positive Romberg sign, Babinski sign, Choreoat... OMIM:618088
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Ataxia, Difficulty walking, Dystonic gait, Titubation, Failure to thrive, Glio... ORPHA:280210
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormal eating behavior, Obsessive-compulsive trait, Impaired social interactions, Gait disturba... ORPHA:544254
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia, Hirsutism OMIM:612526
Smith-Magenis syndrome
Abnormal repetitive mannerisms, Self-mutilation, Hyperactivity DECIPHER:8
Spinocerebellar Ataxia, Autosomal Recessive 10
Limb ataxia, Gait ataxia, Intention tremor, Fasciculations, Babinski sign, Truncal ataxia, Dysmetria OMIM:613728
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex OMIM:601068
Alpha-Heavy Chain Disease
Hypocalcemia, Alopecia ORPHA:100025
Ataxia-Telangiectasia-Like Disorder 1
Frequent falls, Dystonia, Oculomotor apraxia, Unsteady gait, Ataxia, Chorea, Dysdiadochokinesis, ... OMIM:604391
Spinocerebellar Ataxia Type 20
Abnormal pyramidal sign, Kinetic tremor, Isometric tremor, Ataxia, Upper limb postural tremor, Ga... ORPHA:101110
Pontocerebellar Hypoplasia, Type 1A
Limb ataxia, Hand tremor, Ataxia, Dysphagia, Fasciculations, Tongue fasciculations, Basal ganglia... OMIM:607596
Metachromatic Leukodystrophy
Emotional lability, Spastic tetraplegia, Gait disturbance, Ataxia, Decreased nerve conduction vel... OMIM:250100
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Myoclonus, Babinski sign, Dysmetria OMIM:612437
Multiple System Atrophy, Cerebellar Type
Frequent falls, Abnormal pyramidal sign, Parkinsonism, Limb ataxia, Autonomic erectile dysfunctio... ORPHA:227510
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal pyramidal sign, Abnormal fear/anxiety-related behavior, Anxiety,... ORPHA:309246
Gerstmann-Straussler Disease
Spasticity, Emotional lability, Parkinsonism, Limb ataxia, Apraxia, Rigidity, Tremor, Bradykinesi... OMIM:137440
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Small for gestational age, Hypertonia, Gliosis OMIM:615095
Rett Syndrome, Congenital Variant
Spasticity, Impaired social interactions, Bruxism, Apraxia, Irritability, Chorea, Athetosis, Tong... OMIM:613454
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Leukodystrophy, Hypomyelinating, 16
Abnormal pyramidal sign, Broad-based gait, Optic disc pallor, Shuffling gait, Failure to thrive, ... OMIM:617964
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Urocanase Deficiency
Ataxia, Broad-based gait, Gait ataxia, Action tremor, Aggressive behavior, Truncal ataxia, Dysmetria OMIM:276880
Supranuclear Palsy, Progressive, 2
Parkinsonism, Apathy, Retrocollis, Axial dystonia, Falls, Postural tremor, Rigidity, Irritability... OMIM:609454
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Impaired tandem gait, Tremor, Impulsivity, Myoclonus, Lower limb spasticity, Dysmetria OMIM:619028
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Spasticity, Tetraparesis, Ankle clonus, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:613954
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Difficulty walking, Slender build, Astrocytosis OMIM:611087
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Gait disturbance, Ataxia, Abnormal nerve conduction velocity, Tremor ORPHA:101075
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Anxiety, Attention deficit hyperactivity disorder, Spastic ataxia OMIM:618906
Mitochondrial Complex I Deficiency, Nuclear Type 12
Frequent falls, Unsteady gait, Ataxia, Dementia, Gait imbalance, Myoclonus, Choreoathetosis OMIM:301020
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis, Lower limb spasticity OMIM:615119
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormal... OMIM:260300
Niemann-Pick Disease Type C
Bipolar affective disorder, Progressive neurologic deterioration, Mental deterioration, Dystonia,... ORPHA:646
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:620152
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculomotor apraxia, Hyperactivity, Ataxia, Tremor, Aggressive behavior, Choreoathetos... OMIM:612716
Perry Syndrome
Parkinsonism, Apathy, Abnormality of extrapyramidal motor function, Tremor, Depression, Weight loss ORPHA:178509
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms, Spastic tetraplegia, Hypertonia OMIM:615282
Developmental And Epileptic Encephalopathy 78
Spasticity, Cerebral palsy, Inability to walk, Chorea OMIM:618557
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Ataxia, Loss of ambulation, Memory impairment, Tremor, Myoclonus OMIM:614018
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Neuronal Intranuclear Inclusion Disease
Decreased sensory nerve conduction velocity, Gait disturbance, Somatic sensory dysfunction, Ataxi... OMIM:603472
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Parkinsonism, Apathy, Abnormal neuron morphology, Motor neuron atrophy, F... ORPHA:412066
Kufor-Rakeb Syndrome
Spasticity, Parkinsonism, Torticollis, Gait disturbance, Distal sensory impairment, Ataxia, Parki... OMIM:606693
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Dystonia, Inability to walk, Ataxia, Gliosis, Basal ganglia gliosis, C... ORPHA:79243
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hemiplegia/hemiparesis, Chorea, Optic atrophy, Lethargy, Choreoathetosis, Dystonia ORPHA:289916
Choreoacanthocytosis
Emotional lability, Progressive choreoathetosis, Parkinsonism, Tics, Disinhibition, Anxiety, Deme... OMIM:200150
Neuronopathy, Distal Hereditary Motor, Type Iid
Difficulty walking, Decreased motor nerve conduction velocity, Fasciculations OMIM:615575
Amyotrophic Lateral Sclerosis
Spasticity, Emotional lability, Motor neuron atrophy, Agitation, Anxiety, Amyotrophic lateral scl... ORPHA:803
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Failure to thrive OMIM:618951
Amyotrophic Lateral Sclerosis 1
Spasticity, Pseudobulbar paralysis, Amyotrophic lateral sclerosis, Dysphagia, Fasciculations, Deg... OMIM:105400
Spinocerebellar Ataxia 2
Spasticity, Parkinsonism, Limb ataxia, Oculomotor apraxia, Progressive cerebellar ataxia, Ataxia,... OMIM:183090
Perry Syndrome
Inappropriate behavior, Parkinsonism, Suicidal ideation, Apathy, Disinhibition, Anxiety, Rigidity... OMIM:168605
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Hemiparesis, Hyperactivity, Clumsiness, Paraparesis, Disinhibition, ... ORPHA:43
Intellectual Developmental Disorder, X-Linked 72