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 1.16×10-05
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
enlarged epididymis Atp2b1tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal auditory brainstem response Atp2b1tm1b(KOMP)Wtsi HET   Early adult 3.81×10-06
abnormal epididymis morphology Atp2b1tm1b(KOMP)Wtsi HET Early adult 0.00
absent vibrissae Atp2b1tm1b(KOMP)Wtsi HET Early adult 1.29×10-06
decreased circulating calcium level Atp2b1tm1b(KOMP)Wtsi HET   Early adult 3.30×10-05
preweaning lethality, complete penetrance Atp2b1tm1b(KOMP)Wtsi HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland 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
Brown adipose tissue N/A heterozygote 50% (1 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 50% (1 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 100% (2 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 50% (1 of 2)
Epididymis N/A heterozygote 50% (1 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)
Harderian gland N/A heterozygote 100% (2 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
Ileum N/A heterozygote 100% (2 of 2)
Jejunum N/A heterozygote 50% (1 of 2)
Kidney N/A heterozygote 100% (2 of 2)
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)
Midbrain N/A heterozygote 50% (1 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 50% (1 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 100% (2 of 2)
Penis N/A heterozygote 50% (1 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)
Prostate gland N/A heterozygote 50% (1 of 2)
Quadriceps N/A heterozygote 50% (1 of 2)
Sciatic nerve N/A heterozygote Not available
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 100% (2 of 2)
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
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 100% (2 of 2)
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 50% (1 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 50% (1 of 2)
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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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 Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

Adult LacZ

LacZ Images Section

64 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

20 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

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
Low-set ears, Sparse hair OMIM:619910

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Memory impairment, Inappropriate behavior, Astrocytosis, Myoclonus, Rigidity, Disinhibition, Babi... OMIM:600795
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Mental deterioration, Memory impairment, Inappropriate behavior, Fasciculat... ORPHA:275864
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Limb dystonia, Emotional lability, Parkinsonism, Abnormal pyramidal sign, Cognitive i... ORPHA:216873
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Depression, Memory impairment, Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parki... ORPHA:401901
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Spasticity, Failure to thrive, Tetraparesis, Astrocytosis, Gait ataxia, Cogwheel r... ORPHA:225154
Huntington Disease-Like 1
Depression, Incoordination, Chorea, Dysmetria, Rigidity, Aggressive behavior, Dementia, Unsteady ... OMIM:603218
Spinocerebellar Ataxia 17
Broad-based gait, Positive Romberg sign, Parkinsonism, Ataxia, Bradykinesia, Dysphagia, Depressio... OMIM:607136
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Falls, Bruxism, Chorea, Inappropriate laughter, Motor stereotypy, Aggressive b... OMIM:619150
Huntington Disease
Mental deterioration, Oral-pharyngeal dysphagia, Difficulty walking, Polyphagia, Weight loss, Clo... ORPHA:399
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Chorea, Paresthesia, Irritability, Aggressive behavior, Lower limb spastic... ORPHA:98811
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Mental deterioration, Spasticity, Shuffling gait, Depression, Somatic sensory dysfunction, Memory... OMIM:221820
Spinocerebellar Ataxia, Autosomal Recessive 27
Mental deterioration, Spasticity, Depression, Gait imbalance, Gait ataxia, Aggressive behavior, S... OMIM:618369
Optic Atrophy 2
Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor OMIM:311050
Sydenham Chorea
Inappropriate behavior, Chorea, Emotional lability, Irritability, Compulsive behaviors, Unsteady ... ORPHA:306731
Progressive Non-Fluent Aphasia
Mental deterioration, Depression, Memory impairment, Astrocytosis, Abnormality of extrapyramidal ... ORPHA:100070
Juvenile Huntington Disease
Broad-based gait, Depression, Chorea, Gait ataxia, Myoclonus, Rigidity, Dystonia, Irritability, W... ORPHA:248111
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Incoordination, Difficulty walking, Chorea, Myoclonus, Babinski sign, Mo... OMIM:500003
Inherited Creutzfeldt-Jakob Disease
Emotional lability, Abnormal pyramidal sign, Bradykinesia, Slurred speech, Progressive cerebellar... ORPHA:282166
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Emotional lability, Gait disturbance, Dementia, Dysphagia OMIM:607674
Spinocerebellar Ataxia 48
Mental deterioration, Depression, Chorea, Gait ataxia, Dysmetria, Tremor, Irritability, Babinski ... OMIM:618093
Huntington Disease-Like 1
Incoordination, Weight loss, Cognitive impairment, Jerky head movements, Bradykinesia, Restlessne... ORPHA:157941
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Gliosis, Dystonia, Athetosis, Dysphagia OMIM:300857
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Self-injurious behavior, Inability to walk, Chorea, Stereotypical hand wringing, Dystonia OMIM:618760
Huntington Disease-Like 2
Involuntary movements, Memory impairment, Chorea, Parkinsonism, Gait disturbance, Weight loss, De... ORPHA:98934
Basal Ganglia Calcification, Idiopathic, 5
Depression, Memory impairment, Hand tremor, Postural tremor, Chorea, Parkinsonism, Motor tics, Co... OMIM:615483
Sandhoff Disease, Adult Form
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia, ... ORPHA:309169
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Restrictive behavior, Inflexible adherence to routin... OMIM:608636
Spinocerebellar Ataxia 7
Optic atrophy, Spasticity, Mental deterioration, Chorea, Dysmetria, Tremor, Abnormality of extrap... OMIM:164500
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Memory impairment, Difficulty walking, Impaired vibration sensation in the lo... ORPHA:251282
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Memory impairment, Inappropriate behavior, Abnormal upper motor neuron morphology, Fr... OMIM:221770
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Spasticity, Oculogyric crisis, Inability to walk, Bruxism, Chorea, Inapp... OMIM:614254
Huntington Disease
Depression, Chorea, Gait ataxia, Rigidity, Gliosis, Bradykinesia OMIM:143100
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Mental deterioration, Memory impairment, Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyra... OMIM:618317
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma... ORPHA:98810
Frontotemporal Dementia With Motor Neuron Disease
Depression, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnormality of ... ORPHA:275872
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Memory impairment, Dementia, Confusion, Astrocytosis, Myoclonus, Abnormality of extra... ORPHA:204
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Chorea, Action tremor, Tremor, Reduced social reciprocity, Hyperkinetic movements, Ag... OMIM:619738
N-Acetylaspartate Deficiency
Broad-based gait, Short attention span, Self-mutilation, Decreased body weight, Truncal ataxia, U... OMIM:614063
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Involuntary movements, Spasticity, Inability to walk, Reduced social rec... OMIM:617820
Spinocerebellar Ataxia 37
Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Progressive extrapyramidal movement disorder, Abnormal head movements, C... ORPHA:382
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Dementia, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Unsteady gait, Cognitive ... ORPHA:79263
Chorea, Benign Hereditary
Dementia, Chorea, Gait disturbance, Frequent falls OMIM:118700
Huntington Disease-Like 2
Depression, Chorea, Action tremor, Rigidity, Dystonia, Irritability, Weight loss, Bradykinesia OMIM:606438
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Dystonia, Chorea, Paroxysmal dyskinesia OMIM:611031
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Ataxia, Dementia, Dystonia, Choreoathetosis OMIM:125370
Basal Ganglia Calcification, Idiopathic, 1
Mental deterioration, Depression, Memory impairment, Chorea, Limb dysmetria, Tremor, Rigidity, Dy... OMIM:213600
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi... ORPHA:66624
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Falls, Depression, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisth... ORPHA:13
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Mental deterioration, Spasticity, Inability to walk, Chorea, Rigidity, Abnormality of extrapyrami... OMIM:617672
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Depression, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigi... OMIM:619491
Pick Disease Of Brain
Inappropriate laughter, Irritability, Disinhibition, Polyphagia, Frontotemporal dementia, Gliosis... OMIM:172700
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... ORPHA:95434
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness OMIM:618221
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis, Spastic di... OMIM:617270
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Emotional lability, Tremor, Rigidity, Dyst... OMIM:606159
Migraine, Familial Hemiplegic, 1
Hemiplegia, Confusion, Tremor, Hemiparesis, Ataxia, Agitation OMIM:141500
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Confusion, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Lethargy, Hypertonia, ... ORPHA:71277
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Abnormal sensory nerve conduction veloc... ORPHA:276435
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Spasticity, Chorea, Abnormality of extrapyramidal motor function, Babinski sign, A... OMIM:258501
Leukoencephalopathy, Brain Calcifications, And Cysts
Mental deterioration, Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor functio... OMIM:614561
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Optic atrophy, Abnormal nerve conduction velocity, Memory impairme... ORPHA:98755
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Abnormality of extra... ORPHA:500180
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Spasticity, Inability to walk, Chorea, Gait ataxia, Stereotypical hand w... OMIM:618917
Striatonigral Degeneration, Infantile
Optic atrophy, Spasticity, Failure to thrive, Dystonia, Dysphagia, Choreoathetosis OMIM:271930
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Gait ataxia, Recurrent hand flapping, Dysphagia, Motor stereotypy OMIM:617862
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreo... OMIM:606777
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Tremor, Self-mutilation, Hyperkinetic movements, Gait disturbance, Gliosis, Overweigh... ORPHA:457240
Dystonia 37, Early-Onset, With Striatal Lesions
Generalized dystonia, Chorea, Leg dystonia, Loss of ambulation, Oculomotor apraxia, Ataxia, Dysph... OMIM:620427
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Attention deficit h... OMIM:619725
Progressive Supranuclear Palsy
Blepharospasm, Depression, Falls, Memory impairment, Bradykinesia, Emotional lability, Tremor, Ri... ORPHA:683
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis... OMIM:619470
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Dysphagia, Fasciculations ORPHA:85162
Dystonia 11, Myoclonic
Depression, Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive beh... OMIM:159900
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Inappropriate laughter, Emotional lability, Self-mutilation, Tremor, Aggressiv... OMIM:616269
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Optic atrophy, Spasticity, Involuntary movements, Failure to thrive, Chorea, Myocl... OMIM:617282
Pontocerebellar Hypoplasia, Type 4
Spasticity, Myoclonus, Gliosis, Hypertonia, Dysphagia OMIM:225753
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Facial-lingual fasciculations, Fasciculations, Limb ata... OMIM:109150
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Frontal lobe dementia, Inappropriate laughter, Irritability, Disin... OMIM:600274
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Chorea, Myoclonus, Hyperkinetic movements, Ataxia, Dystonia, Motor stereotypy,... OMIM:619317
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gliosis, Ataxia, Unstead... OMIM:213200
Myoclonus, Intractable, Neonatal
Chorea, Myoclonus, Optic disc pallor, Athetosis, Dysphagia, Impaired oral bolus formation OMIM:617235
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Tip-toe gait, Fasciculations, Difficulty walking, Ankle clonus, Hoffmann sign, Babins... OMIM:615681
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Involuntary movements, Emotional lability, Aggressive behavior, Motor stereotypy, Agitation OMIM:617171
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Action tremor, Opisthotonus, Paraparesis, Abnormal pyramidal si... OMIM:607483
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Neurodevelopmental Disorder With Involuntary Movements
Self-injurious behavior, Involuntary movements, Spasticity, Chorea, Hyperkinetic movements, Dysto... OMIM:617493
Developmental And Epileptic Encephalopathy 97
Inability to walk, Tremor, Stereotypical hand wringing OMIM:619561
Developmental And Epileptic Encephalopathy 58
Inability to walk, Optic atrophy, Motor stereotypy, Spastic diplegia OMIM:617830
Mepan Syndrome
Optic atrophy, Hemidystonia, Spasticity, Failure to thrive, Chorea, Limb dystonia, Axial dystonia... ORPHA:508093
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Difficulty walking, Axial dystonia, Opisthotonus, Parkinsonism, Ca... ORPHA:300605
Rabies
Vocal cord paresis, Depression, Cerebral palsy, Paresthesia, Attention deficit hyperactivity diso... ORPHA:770
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Depression, Amyotrophic lateral sclerosis, Tetraparesis, Abnormal lower motor neuron morphology, ... OMIM:105550
Intellectual Developmental Disorder, Autosomal Recessive 64
Spasticity, Reduced social reciprocity, Aggressive behavior, Hypertonia, Slurred speech OMIM:618103
Developmental And Epileptic Encephalopathy 37
Spasticity, Chorea, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic movements, Gait disturba... OMIM:616981
Parkinson Disease 1, Autosomal Dominant
Mental deterioration, Shuffling gait, Depression, Resting tremor, Bradykinesia, Myoclonus, Rigidi... OMIM:168601
Hereditary Late-Onset Parkinson Disease
Mental deterioration, Shuffling gait, Depression, Resting tremor, Bradykinesia, Akinesia, Low fru... ORPHA:411602
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy, Reduced social reciprocity OMIM:606053
Striatal Degeneration, Autosomal Dominant 2
Chorea, Parkinsonism OMIM:616922
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia OMIM:611105
Dystonia 12
Depression, Bradykinesia, Emotional lability, Tremor, Parkinsonism, Torticollis, Unsteady gait, D... OMIM:128235
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:618709
Foxg1 Syndrome
Spasticity, Difficulty walking, Inability to walk, Bruxism, Myoclonus, Reduced social reciprocity... ORPHA:561854
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Obesity, Short attention span, Polyphagia, Hyperactivit... ORPHA:411515
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Spasticity, Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Myoclonus, Short attention span, Tremor, Rigidity, Gait distu... ORPHA:391417
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor, Ataxia OMIM:617018
Progressive Supranuclear Palsy-Corticobasal Syndrome
Mental deterioration, Involuntary movements, Memory impairment, Somatic sensory dysfunction, Limb... ORPHA:240103
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Irritability, Hypertonia, Progressive neurologic deterioration, Dystonia, Dysp... OMIM:261630
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Tetraplegia, Gliosis, Degeneration of ant... OMIM:604484
Pontocerebellar Hypoplasia, Type 2D
Chorea, Appendicular spasticity, Irritability, Clonus, Spastic tetraplegia OMIM:613811
Spinocerebellar Ataxia Type 2
Fasciculations, Chorea, Postural tremor, Gait ataxia, Parkinsonism, Kinetic tremor, Dementia, Dys... ORPHA:98756
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Chorea, Writer's cramp, Dystonia, Athetosis ORPHA:98809
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Atypical Rett Syndrome
Spasticity, Loss of ambulation, Involuntary movements, Limb myoclonus, Inability to walk, Stereot... ORPHA:3095
Parkinson Disease 22, Autosomal Dominant
Depression, Resting tremor, Restless legs, Rigidity, Parkinsonism with favorable response to dopa... OMIM:616710
Baker-Gordon Syndrome
Self-injurious behavior, Involuntary movements, Inability to walk, Hyperkinetic movements, Motor ... OMIM:618218
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis, Paresthesia, Failure to thrive OMIM:612740
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Self-injurious behavior, Depression, Chorea, Myoclonus, Aggressive... ORPHA:485350
Spinocerebellar Ataxia 50
Froment sign, Chorea, Postural tremor, Myoclonus, Action tremor, Head tremor, Apraxia, Ataxia OMIM:620158
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Abnormal motor nerve conduction velocity, Vocal cord paralysis, Tremor OMIM:158580
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Frontal l... ORPHA:157846
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyper... OMIM:615924
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Chorea, Gait ataxia, Self-mutilation, Lower limb spasticity, Hyperactivity, Paroxysmal bursts of ... OMIM:620445
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Mental deterioration, Falls, Resting tremor, Ga... OMIM:617225
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Depression, Pseudobulbar paralysis, Autonomic bladder dysfunction, Orthostatic hypote... OMIM:169500
Basal Ganglia Calcification, Idiopathic, 6
Involuntary movements, Memory impairment, Depression, Parkinsonism, Cognitive impairment, Dementi... OMIM:616413
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Tremor, Distal sensory impairment, Fasciculations OMIM:615048
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation OMIM:619651
Adult Neuronal Ceroid Lipofuscinosis
Mental deterioration, Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function... ORPHA:79262
Pontocerebellar Hypoplasia, Type 2C
Dystonia, Chorea OMIM:612390
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Hemiparesis OMIM:607341
Infantile Dystonia-Parkinsonism
Oculogyric crisis, Cerebral palsy, Chorea, Irritability, Dystonia, Parkinsonism, Abnormal pyramid... ORPHA:238455
Neurodevelopmental Disorder With Dystonia And Seizures
Self-injurious behavior, Chorea, Dystonia, Athetosis, Spastic tetraplegia OMIM:619922
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Mental deterioration, Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, A... ORPHA:2590
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Depression, Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Truncal obesit... OMIM:300957
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Resting tremor, Abnormal fear-induced behavior, Obesity, Tremor... ORPHA:3077
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Optic atrophy, Somatic sensory dysfunction, Impaired pain sensation... ORPHA:99947
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Spasticity, Memory impairment, Emotional lability, Lethargy, Gait disturbance, Gli... OMIM:603896
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Developmental And Epileptic Encephalopathy 14
Tetraplegia, Spasticity, Clonus, Gliosis OMIM:614959
Huntington Disease-Like 3
Spasticity, Broad-based gait, Abnormal head movements, Extrapyramidal muscular rigidity, Chorea, ... ORPHA:157946
Supranuclear Palsy, Progressive, 1
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Limb dystonia, Axial d... OMIM:601104
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Gait ataxia, Tremor, Truncal ataxia OMIM:618587
Pontocerebellar Hypoplasia, Type 2A
Optic atrophy, Chorea, Opisthotonus, Gliosis, Dystonia, Restlessness, Dysphagia, Extrapyramidal d... OMIM:277470
Myoclonus-Dystonia Syndrome
Depression, Spinal myoclonus, Limb myoclonus, Myoclonus, Torticollis, Writer's cramp, Compulsive ... ORPHA:36899
Infantile Convulsions And Choreoathetosis
Involuntary movements, Chorea, Dystonia, Athetosis, Paroxysmal dyskinesia, Choreoathetosis ORPHA:31709
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Oppositional defiant disorder, Tremor, Dysmetria, Short attention span, Impaired tande... OMIM:619028
Hemimegalencephaly
Optic atrophy, Myoclonus, Hemiparesis, Gliosis, Abnormal neuron morphology ORPHA:99802
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Spasticity, Failure to thrive, Generalized dystonia, Inability to walk, Chorea, Ataxia, Progressi... ORPHA:70472
Spinocerebellar Ataxia 1
Spasticity, Cognitive impairment, Optic disc pallor, Dysphagia, Progressive cerebellar ataxia, Im... OMIM:164400
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Mental deterioration, Neuromuscular dysphagia, Falls, Depression, Memory impairment, Bradykinesia... ORPHA:240085
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608631
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Gait disturbance, Hyperactivity, Del... OMIM:618090
Lopes-Maciel-Rodan Syndrome
Spasticity, Bradykinesia, Bruxism, Tremor, Ankle clonus, Motor stereotypy, Abnormal pyramidal sig... OMIM:617435
Rapid-Onset Dystonia-Parkinsonism
Depression, Resting tremor, Limb dystonia, Gait ataxia, Emotional lability, Parkinsonism, Craniof... ORPHA:71517
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Dysphagia, In... OMIM:302500
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Depression, Confusion, Myoclonus, Gait ataxia, Tremor, Abnormality of extra... OMIM:615362
Friedreich Ataxia
Optic atrophy, Spasticity, Falls, Decreased motor nerve conduction velocity, Inability to walk, C... ORPHA:95
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor ORPHA:217012
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:300983
Lethal Congenital Contracture Syndrome 7
Paralysis, Facial diplegia, Oral-pharyngeal dysphagia OMIM:616286
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
Developmental And Epileptic Encephalopathy 27
Dystonia, Chorea, Myoclonus, Spasticity OMIM:616139
Autism
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:209850
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:607373
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea OMIM:614055
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Myoclonus, Gliosis, Distal sensory impairment, Abnormality of extrapyramidal motor function OMIM:604218
Tay-Sachs Disease
Incoordination, Mania, Dysphagia, Poor fine motor coordination, Depression, Memory impairment, In... ORPHA:845
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal movement disorder, Involuntary movements, Optic atrophy, Resting tremo... ORPHA:401768
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor ORPHA:423296
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Stxbp1-Related Encephalopathy
Spasticity, Inability to walk, Tremor, Hyperactivity, Ataxia, Dystonia, Spastic tetraplegia ORPHA:599373
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Progressive spastic quadriplegia,... ORPHA:309246
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Chorea, Benign Familial
Chorea OMIM:215450
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Spasticity, Mental deterioration, Chorea, Gait ataxia, Intention tremor, Dysmetria... OMIM:610217
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Dysphagia, Dementia, Facial palsy, ... OMIM:159950
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
2P21 Microdeletion Syndrome
Hypogonadism, Long eyelashes, Low-set, posteriorly rotated ears, Hypocalcemia ORPHA:163693
Severe Intellectual Disability And Progressive Spastic Paraplegia
Spasticity, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Excessive shyness,... ORPHA:280763
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Gait ataxia, Aggressive behavior, Hyperactivity, Motor stereotypy, Small for g... OMIM:609425
Kleine-Levin Syndrome
Transient global amnesia, Depression, Polydipsia, Poor hand-eye coordination, Confusion, Abnormal... ORPHA:33543
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia OMIM:276880
Cataract 11, Multiple Types
Chorea, Hypertonia OMIM:610623
Leigh Syndrome, Nuclear
Optic atrophy, Spasticity, Failure to thrive, Emotional lability, Gliosis, Ataxia, Dystonia OMIM:256000
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Abnormal peripheral action p... ORPHA:90117
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Mental deterioration, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss o... OMIM:208920
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Folinic Acid-Responsive Seizures
Optic atrophy, Broad-based gait, Spastic tetraparesis, Difficulty walking, Chorea, Irritability, ... ORPHA:79097
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Spasticity, Inability to walk, Bruxism, Tremor, Paroxysmal bursts of lau... OMIM:618718
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Tremor, Rigidity, Dystonia, Irritability, Parkinsonism, Limb hypertoni... OMIM:261640
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait ataxia, Sh... ORPHA:225147
Pelizaeus-Merzbacher Disease
Mental deterioration, Broad-based gait, Progressive spastic quadriplegia, Abnormal pyramidal sign... OMIM:312080
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Choreoathetosis, Familial Inverted
Rigidity, Gait disturbance, Abnormal pyramidal sign, Progressive choreoathetosis, Dementia OMIM:118750
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605285
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Dysphagia, Paroxysmal dystonia, Torticollis OMIM:118800
Spinocerebellar Ataxia Type 27
Depression, Memory impairment, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxi... ORPHA:98764
Gordon Holmes Syndrome
Dementia, Chorea, Ataxia OMIM:212840
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Spasticity, Failure to thrive, Difficulty walking, Irritability, Motor stereotypy OMIM:617393
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Inability to walk, Chorea, Gait ataxia, Dysmetria, Ataxia OMIM:618501
Developmental And Epileptic Encephalopathy 17
Dystonia, Chorea, Athetosis, Inability to walk OMIM:615473
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Depression, Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable r... OMIM:620482
Epilepsy, Progressive Myoclonic, 8
Progressive neurologic deterioration, Action myoclonus, Falls, Limb ataxia, Myoclonus, Gait distu... OMIM:616230
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Paraparesis, Cognitive impairment, Gait apra... OMIM:615157
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Gait ataxia, Intention tremor, Emotional labi... ORPHA:98890
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Vocal cord paralysis, Distal sensory impairment, Oral-pharyngeal dysphagia OMIM:616287
Sandhoff Disease, Juvenile Form
Acroparesthesia, Failure to thrive, Fasciculations, Incoordination, Abnormality of extrapyramidal... ORPHA:309162
Autosomal Spastic Paraplegia Type 58
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat... ORPHA:397946
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait... ORPHA:210571
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Positive Romberg sign, Dysmetria, Loss of ambulation, Babinski sign, Ataxia, Dystonia... OMIM:618088
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Amyotrophic Lateral Sclerosis 28
Fasciculations, Difficulty walking, Babinski sign, Chaddock reflex, Dysphagia OMIM:620452
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Bruxism, Myoclonus, Stereotypical hand wringing, Hyperkinetic movements, Dysto... OMIM:618497
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Depression, Hostility, Inability to walk, Bruxism, Chorea, Rigidity, Decrease... OMIM:300260
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Inability to walk, Bruxism, Chorea, Paroxysmal dystonia, Hemiparesis, Li... OMIM:618004
Spinocerebellar Ataxia Type 17
Blepharospasm, Mental deterioration, Involuntary movements, Spasticity, Chorea, Rigidity, Parkins... ORPHA:98759
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Spinocerebellar Ataxia 42
Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Cognitive impairment,... OMIM:616795
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Chorea, Athetosis, Choreoathetosis, Failure to thrive OMIM:309541
Nasu-Hakola Disease
Spasticity, Memory impairment, Frontal lobe dementia, Chorea, Disinhibition, Irritability, Oculom... ORPHA:2770
Late-Infantile/Juvenile Krabbe Disease
Mental deterioration, Spastic paraparesis, Difficulty walking, Emotional lability, Impaired tacti... ORPHA:206443
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Ataxia, Paroxysmal bursts o... ORPHA:228402
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction, Tremor, Fascicul... ORPHA:65684
Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Chorea, Tremor, Abnormality of extrapyramidal motor function, ... OMIM:615673
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Paralysis, Parkinsonism, Amyotrophic lateral sclerosis OMIM:105500
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism w... ORPHA:314632
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Depression, Difficulty walking, Myoclonus, Dysmetria, Attention deficit hyp... OMIM:619191
Immunodeficiency 83, Susceptibility To Viral Infections
Mental deterioration, Confusion, Hemiparesis, Lethargy, Gliosis OMIM:613002
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Spasticity, Amyotrophic lateral sclerosis, Emotional lability, Disinhibition, Babinski sign, Moto... OMIM:612069
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Speech a... OMIM:613670
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Spasticity, Difficulty walking, Inability to walk, Lim... OMIM:617695
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Slender build, Chorea, Myoclonus, Recurrent hand flapping, Attention deficit hype... OMIM:617600
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Hand paresthesia, Vocal cord paralysis, ... OMIM:162500
Pontocerebellar Hypoplasia, Type 1A
Tongue fasciculations, Hand tremor, Fasciculations, Limb ataxia, Ataxia, Dysphagia, Basal ganglia... OMIM:607596
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Myoclonus, Hippocampal sclerosis, Tremor OMIM:615400
Spastic Ataxia 2, Autosomal Recessive
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, B... OMIM:611302
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Chorea, Bradykinesia, Ataxia OMIM:618683
X-Linked Creatine Transporter Deficiency
Chorea, Self-mutilation, Aganglionic megacolon, Cachexia, Hyperactivity, Hypertonia, Ataxia, Dyst... ORPHA:52503
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Spastic Paraplegia 70, Autosomal Recessive
Spasticity, Ankle clonus, Somatic sensory dysfunction, Fasciculations OMIM:620323
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Mental deterioration, Decreased motor nerve conduction velocity, Tremo... OMIM:609260
Metachromatic Leukodystrophy, Adult Form
Spasticity, Difficulty walking, Emotional lability, Orthostatic hypotension due to autonomic dysf... ORPHA:309271
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Distal sensory impairment OMIM:613710
Choreoacanthocytosis
Mental deterioration, Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Loss of am... ORPHA:2388
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Spasticity, Failure to thrive, Inability to walk, Chorea, Short attention span, Irritability, Hyp... OMIM:617864
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Spastic tetraplegia, Cerebral palsy, Limb dystonia, Myoclonus, Opisthotonus, Babinski... OMIM:619847
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Spastic Paraplegia 50, Autosomal Recessive
Cerebral palsy, Babinski sign, Limb hypertonia, Gliosis, Ataxia, Optic disc pallor, Spastic tetra... OMIM:612936
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Aggressive behavior, Parkinso... ORPHA:329284
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Rigidity, Babinski sign, Clonus, Gliosis, Hypertonia, Myoclonic spasms, Limb hyper... OMIM:614498
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Failure to thrive, Myoclonus, Irritability, Choreoathetosis OMIM:609056
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Spinocerebellar Ataxia Type 28
Spasticity, Depression, Memory impairment, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, ... ORPHA:101109
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Falls, Inappropriate behavior, Dementia, Extrapyramidal musc... ORPHA:99750
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Optic atrophy, Gait ataxia, Intention tremor, Lower limb spasticity... OMIM:620221
Acute Peripheral Arterial Occlusion
Paralysis, Paresthesia, Impaired distal tactile sensation ORPHA:90064
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Steppage gait, Decreased motor nerve conduction velocity, Distal sensory impairment, Fasciculations OMIM:606595
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Myoclonus, Tremor, Ataxia OMIM:616187
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Spasticity, Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior, Delirium ORPHA:208441
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Cognitive impairment, Truncal ataxi... OMIM:615768
Neurodegeneration With Brain Iron Accumulation 7
Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia, Dysphagia OMIM:617916
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Broad-based gait, Obesity, Polyphagia, Poor coordination ORPHA:171829
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Difficulty walking, Head trem... ORPHA:276198
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Chorea, Paresthesia, Abnormality of peripheral nerve conduction, Dysmetria, Abnormal pyramidal si... ORPHA:48431
Alternating Hemiplegia Of Childhood 2
Mental deterioration, Hemiplegia, Tetraplegia, Ataxia, Dystonia, Episodic quadriplegia, Choreoath... OMIM:614820
Spinocerebellar Ataxia Type 37
Falls, Somatic sensory dysfunction, Myoclonus, Limb dysmetria, Cogwheel rigidity, Tremor, Gait di... ORPHA:363710
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Bruxism, Obesity, Emotio... OMIM:300055
Episodic Kinesigenic Dyskinesia 3
Dystonia, Involuntary movements, Choreoathetosis, Torticollis OMIM:620245
Ataxia-Telangiectasia-Like Disorder
Chorea, Gait ataxia, Myoclonus, Dysmetria, Intention tremor, Oculomotor apraxia, Ataxia, Dystonia... ORPHA:251347
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Action tremor, Obsessive-compulsive trait, Attention deficit hyperactivity diso... OMIM:617665
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Chorea, Gait ataxia, Myoclonus, Irritability, Aggressive behavior, Lethargy... OMIM:618321
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Decreased nerve conduction velocity, Rigidity, Ataxia, Bradykinesia OMIM:183050
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Irritability, Torticollis, Ataxia ORPHA:71518
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Memory impairment, Disinhibition, Polyphagia, Apraxia, Parkinsonism, Repetitive compulsive behavi... OMIM:607485
Combined Saposin Deficiency
Optic atrophy, Fasciculations, Myoclonus, Hyperkinetic movements, Babinski sign OMIM:611721
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Progressive cerebellar ataxia, Spasticity, Impaired vibration sensation in the lower limbs, Head ... ORPHA:352641
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Spasticity, Depression, Amyotrophic lateral sclerosis, Fasciculations, Tetraparesis, Difficulty w... OMIM:613954
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Hearing impairment, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Dementia, Akinesia, Myoclonus, Distal sensory impairment, Rigidit... OMIM:606693
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Xq28 (MECP2) duplication
Depression, Failure to thrive, Inability to walk, Gait ataxia, Motor stereotypy, Progressive spas... DECIPHER:45
Sneddon Syndrome
Mental deterioration, Memory impairment, Chorea, Tremor, Hemiparesis, Dementia ORPHA:820
Rett Syndrome, Congenital Variant
Spasticity, Bruxism, Chorea, Reduced social reciprocity, Irritability, Apraxia, Tongue thrusting,... OMIM:613454
Isaacs Syndrome
Weight loss, Distal sensory impairment, Fasciculations ORPHA:84142
Corticobasal Syndrome
Involuntary movements, Memory impairment, Somatic sensory dysfunction, Limb myoclonus, Progressiv... ORPHA:454887
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Myoclonus, Cognitive impairment, Tr... OMIM:607346
Gerstmann-Straussler Disease
Spasticity, Depression, Memory impairment, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity,... OMIM:137440
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Self-injurious behavior, Reduced social reciprocity, Stereotypical hand w... ORPHA:397933
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Reduced social rec... ORPHA:544254
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hsd10 Mitochondrial Disease
Optic atrophy, Spasticity, Agitation, Aggressive behavior, Progressive neurologic deterioration, ... OMIM:300438
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Huntington Disease-Like 3
Mental deterioration, Spasticity, Chorea, Abnormality of extrapyramidal motor function, Unsteady ... OMIM:604802
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Paroxysmal dyskinesia ORPHA:79137
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... OMIM:128230
Spinocerebellar Ataxia 38
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Gliosis, At... OMIM:236792
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Irritability, Lethargy, Limb hypertonia, Progressive ne... OMIM:233910
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Bruxism, Tremor, Self-mutilation, Ataxia, Dystonia, Dysphagia, Choreoathetosis OMIM:619422
Manganese Poisoning
Depression, Memory impairment, Bradykinesia, Confusion, Postural tremor, Inappropriate laughter, ... ORPHA:306682
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Involuntary movements, Spasticity, Mental deterioration, Failure to thrive, Diffic... ORPHA:442835
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus... OMIM:183090
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Somatic sensory dysfunction, Limb myoclonus, Postural tremor,... OMIM:619862
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, Myoclonus, Tremor OMIM:615127
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Decreased motor nerve conduction velocity, Impaired pain sensation, Decreased... OMIM:607706
Alpha-Heavy Chain Disease
Alopecia, Hypocalcemia ORPHA:100025
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Fasciculations, Difficulty walking, Hoffmann sign, Babinski sign, Dementia OMIM:620402
Obesity Due To Sim1 Deficiency
Memory impairment, Postural hypotension with compensatory tachycardia, Obesity, Polyphagia, Atten... ORPHA:369873
Behr Syndrome
Optic atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance, Dysphagia, Ataxia, Truncal ata... OMIM:210000
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy, Spastic tetraplegia, Hypertonia OMIM:615282
Spinocerebellar Ataxia 12
Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dementia, Dysdia... OMIM:604326
Supranuclear Palsy, Progressive, 2
Memory impairment, Falls, Frontolimbic dementia, Postural tremor, Gait imbalance, Retrocollis, Ax... OMIM:609454
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Diff... ORPHA:101077
Angelman Syndrome
Self-injurious behavior, Optic atrophy, Broad-based gait, Inability to walk, Inappropriate laught... ORPHA:72
Riboflavin Transporter Deficiency
Myoclonus, Abnormal cranial nerve morphology, Tremor, Aggressive behavior, Cachexia, Abnormal aut... ORPHA:97229
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Cognitive imp... ORPHA:98763
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Tip-toe gait, Hand tremor, Incoordination, Difficulty ... OMIM:302800
Joubert Syndrome 10
Obesity, Frequent temper tantrums, Dysmetria, Decreased body weight, Polyphagia OMIM:300804
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Ataxia, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentia... OMIM:616688
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia, Reduced social reciprocity ORPHA:329249
Epilepsy, Familial Adult Myoclonic, 3
Giant somatosensory evoked potentials, Difficulty walking, Myoclonus, Tremor, Enhancement of the ... OMIM:613608
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Spasticity, Spastic paraparesis, Tip-toe gait, Failure to thrive, Gait ataxia, Dys... OMIM:614877
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Reduced social reciprocity, Torticollis, Kinet... OMIM:611092
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Hypertonia, Ataxia, Motor stereotypy OMIM:619092
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Failure to thrive, Tetraparesis, Antalgic gait, Tremor, Aggressive behavior OMIM:620546
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Myoclon... ORPHA:254343
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Tremor, Ataxia OMIM:618637
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Depression, Emotional lability, Loss of ambulation, Clumsiness, Parkinso... ORPHA:79264
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Neuromuscular dysphagia, Depression, Resting tremor, Autonomic bladder dysfunct... ORPHA:227510
Perry Syndrome
Short stepped shuffling gait, Depression, Inappropriate behavior, Bradykinesia, Akinesia, Tremor,... OMIM:168605
Amyotrophic Lateral Sclerosis 1
Spasticity, Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Fasciculations, Dysphagia, Deg... OMIM:105400
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Decreased nerve conduction velocity, Reduced social reciprocity, Abnormal pyramida... OMIM:256600
Developmental And Epileptic Encephalopathy 40
Spasticity, Small for gestational age, Myoclonus, Lethargy, Spastic tetraparesis, Choreoathetosis OMIM:617065
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Depression, Resting tremor, Bradykinesia, Tremor, Rigidity, Substan... OMIM:168600
Parkinsonism With Polyneuropathy
Depression, Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sen... OMIM:619279
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Chorea, Limb ataxia, Gait ataxia, Head tremor, Tremor,... OMIM:606002
Epilepsy, Familial Adult Myoclonic, 1
Enhancement of the C-reflex, Giant somatosensory evoked potentials, Tremor OMIM:601068
Fragile X Tremor/Ataxia Syndrome
Mental deterioration, Poor fine motor coordination, Depression, Resting tremor, Memory impairment... OMIM:300623
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordination, Dementia, Hemipares... ORPHA:43
Caribbean Parkinsonism
Autonomic bladder dysfunction, Frontal lobe dementia, Myoclonus, Action tremor, Rigidity, Dystoni... ORPHA:97355
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Amyotrophic Lateral Sclerosis
Spasticity, Depression, Amyotrophic lateral sclerosis, Fasciculations, Emotional lability, Babins... ORPHA:803
Ataxia-Telangiectasia-Like Disorder 1
Chorea, Gait ataxia, Dysmetria, Unsteady gait, Lower limb spasticity, Oculomotor apraxia, Ataxia,... OMIM:604391
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Hirsutism OMIM:612526
Pelizaeus-Merzbacher Disease, Connatal Form
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