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 9.80×10-06
embryonic lethality prior to organogenesis Atp2b1tm1b(KOMP)Wtsi HOM   E9.5 0.00
decreased circulating calcium level Atp2b1tm1b(KOMP)Wtsi HET   Early adult 1.97×10-05
preweaning lethality, incomplete penetrance Atp2b1tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal auditory brainstem response Atp2b1tm1b(KOMP)Wtsi HET   Early adult 3.73×10-06
absent vibrissae Atp2b1tm1b(KOMP)Wtsi HET Early adult 3.55×10-07
enlarged epididymis Atp2b1tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal epididymis morphology Atp2b1tm1b(KOMP)Wtsi HET Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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 Not available
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 Not available
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 Not available
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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
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 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

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

Embryo LacZ

LacZ images wholemount

20 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

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.

No human diseases associated to this gene by orthology or annotation.

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
Clumsiness, Oromandibular dystonia, Irritability, Abnormal pyramidal sign, Gait disturbance, Dysp... ORPHA:216873
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Inappropriate behavior, Abulia, Aggressive behavior, Abnormality of extrapyrami... ORPHA:275864
Familial Infantile Bilateral Striatal Necrosis
Babinski sign, Dysphagia, Gait disturbance, Dystonia, Optic atrophy, Rigidity, Choreoathetosis, F... ORPHA:225154
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Rigidity, Chorea, Cognitive impairment, Myoclonus, Tremor, Atax... ORPHA:401901
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Gait disturbance, Babinski sign, Dystonia, Inappropriate behavior, Rigidity, Aggressive behavior,... OMIM:600795
Spinocerebellar Ataxia 17
Dystonia, Dysphagia, Dementia, Rigidity, Dysmetria, Chorea, Aggressive behavior, Myoclonus, Glios... OMIM:607136
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Spastic hemiparesis, Apathy, Irritability, Abnormal pyramidal sign, Anxiety, Progress... ORPHA:282166
Huntington Disease-Like 1
Dementia, Rigidity, Dysmetria, Chorea, Aggressive behavior, Basal ganglia gliosis, Incoordination... OMIM:603218
Huntington Disease
Clumsiness, Gait imbalance, Decreased body mass index, Choking episodes, Apathy, Irritability, Or... ORPHA:399
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis, Optic atrophy OMIM:311050
Spinocerebellar Ataxia, Autosomal Recessive 27
Dysphagia, Frequent falls, Torticollis, Gliosis, Spasticity, Mental deterioration, Gait ataxia, D... OMIM:618369
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Involuntary movements, Gait disturbance, Dysphagia, Dystonia, Optic atrophy, Chorea, Myoclonus, A... OMIM:617282
Pick Disease Of Brain
Polyphagia, Gliosis, Apathy, Inappropriate laughter, Stereotypy, Emotional blunting, Irritability... OMIM:172700
Huntington Disease-Like 2
Involuntary movements, Gait disturbance, Dystonia, Dementia, Chorea, Weight loss, Parkinsonism, M... ORPHA:98934
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Spinocerebellar Ataxia 48
Babinski sign, Dysphagia, Dystonia, Cachexia, Dysmetria, Chorea, Tremor, Ataxia, Irritability, Me... OMIM:618093
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Striatonigral Degeneration, Infantile
Dystonia, Dysphagia, Optic atrophy, Choreoathetosis, Failure to thrive, Spasticity OMIM:271930
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Gait disturbance, Dysphagia, Dementia, Chorea, Emotional lability OMIM:607674
Huntington Disease-Like 2
Dystonia, Dementia, Rigidity, Chorea, Weight loss, Apathy, Bradykinesia, Irritability, Action tre... OMIM:606438
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Dysphagia, Choreoathetosis, Myoclonus, Progressive neurologic deterioration, Tremor, Hy... OMIM:261630
Sporadic Creutzfeldt-Jakob Disease
Babinski sign, Dementia, Akinetic mutism, Cognitive impairment, Myoclonus, Abnormality of extrapy... ORPHA:204
Choreoathetosis, Familial Inverted
Gait disturbance, Dementia, Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign OMIM:118750
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Intellectual Developmental Disorder, Autosomal Recessive 58
Choreoathetosis, Self-injurious behavior, Aggressive behavior, Stereotypy, Spastic diplegia, Pica OMIM:617270
Basal Ganglia Calcification, Idiopathic, 6
Involuntary movements, Dementia, Choreoathetosis, Cognitive impairment, Parkinsonism, Depression,... OMIM:616413
Huntington Disease
Dementia, Rigidity, Chorea, Gliosis, Bradykinesia, Gait ataxia, Depression OMIM:143100
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Agg... ORPHA:98811
Chorea, Benign Hereditary
Chorea, Anxiety, Gait disturbance OMIM:118700
Dentatorubral-Pallidoluysian Atrophy
Dementia, Choreoathetosis, Chorea, Myoclonus, Ataxia, Abnormal pyramidal sign OMIM:125370
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Dysphagia, Weakness due to upper motor neuron dysfunction, Gliosis, Abnormality of... ORPHA:275872
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Dysphagia, Rigidity, Choreoathetosis, Small for gestational age, Progressive neurologic... OMIM:261640
Spinocerebellar Ataxia 7
Babinski sign, Dysphagia, Optic atrophy, Dysmetria, Chorea, Abnormality of extrapyramidal motor f... OMIM:164500
Juvenile Huntington Disease
Dystonia, Dementia, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Progressive cerebella... ORPHA:248111
Progressive Non-Fluent Aphasia
Abnormality of extrapyramidal motor function, Astrocytosis, Abnormal lower motor neuron morpholog... ORPHA:100070
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Poor coordination, Paroxysmal dyskinesia, Chorea, Aggressive behavior, Falls, Inappropr... OMIM:619150
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dysphagia, Dystonia, Jerky head movements, Spastic gait, ... ORPHA:251282
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Gliosis, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ... OMIM:213200
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Dystonia, Rigidity, Choreoathetosis, Torticollis, Chorea, Paroxysmal dyski... ORPHA:98810
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysphagia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Mental det... OMIM:618317
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Huntington Disease-Like 1
Clumsiness, Involuntary movements, Gait disturbance, Dementia, Jerky head movements, Frequent fal... ORPHA:157941
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Rigidity, Gliosis, Shuffling gait, Bradykinesia, Frontal lobe dementia, Apraxia, Spasticity, Ment... OMIM:221820
Alternating Hemiplegia Of Childhood 2
Episodic quadriplegia, Dystonia, Choreoathetosis, Tetraplegia, Ataxia, Hemiplegia, Mental deterio... OMIM:614820
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia... ORPHA:95434
Childhood-Onset Benign Chorea With Striatal Involvement
Parkinsonism with favorable response to dopaminergic medication, Chorea, Anxiety ORPHA:494541
Spinocerebellar Ataxia Type 1
Impaired proprioception, Postural tremor, Dysphagia, Gait disturbance, Gait imbalance, Dystonia, ... ORPHA:98755
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Dystonia, Self-injurious behavior, Chorea, Myoclonus, Inability to walk, Hyperkinetic movements, ... OMIM:614254
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Self-injurious behavior, Chorea, Inability to walk, Stereotypical hand wringing OMIM:618760
Early-Onset X-Linked Optic Atrophy
Babinski sign, Optic atrophy, Optic disc pallor, Choreoathetosis, Decreased nerve conduction velo... ORPHA:98890
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Neurodegeneration With Brain Iron Accumulation
Dystonia, Optic atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor function, Spasticity ORPHA:385
3-Methylglutaconic Aciduria, Type Iii
Babinski sign, Optic atrophy, Chorea, Cognitive impairment, Abnormality of extrapyramidal motor f... OMIM:258501
Hsd10 Disease
Gait disturbance, Dysphagia, Optic atrophy, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia,... ORPHA:391417
Baker-Gordon Syndrome
Involuntary movements, Dystonia, Choreoathetosis, Self-injurious behavior, Stereotypy, Ataxia, In... OMIM:618218
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Dysphagia, Dementia, Myoclonic spasms, Dysmetria, Chorea, Cognitive impairm... ORPHA:79263
Sydenham Chorea
Inappropriate behavior, Chorea, Emotional lability, Irritability, Unsteady gait, Hemiballismus ORPHA:306731
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Paroxysmal dyskinesia, Dystonia, Chorea OMIM:611031
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Gait disturbance, Inappropriate behavior, Aggressive behavior, Myoclonus, Gliosis,... OMIM:221770
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Depression, Rigi... OMIM:619491
Spinocerebellar Ataxia 37
Dysphagia, Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Neurodegeneration With Brain Iron Accumulation 3
Babinski sign, Dysphagia, Dystonia, Dementia, Rigidity, Choreoathetosis, Writer's cramp, Chorea, ... OMIM:606159
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Dystonia, Choreoathetosis, Tetraplegia, Episodic hemiplegia, Mental deteri... OMIM:104290
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Cognitive impairment, Tremor, Ataxia, Spasticity OMIM:611105
Pandas
Clumsiness, Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Tics, Ir... ORPHA:66624
N-Acetylaspartate Deficiency
Self-mutilation, Stereotypy, Truncal ataxia, Unsteady gait, Decreased body weight OMIM:614063
Paroxysmal Nonkinesigenic Dyskinesia 1
Torticollis, Paroxysmal dystonia, Dysphagia, Paroxysmal choreoathetosis OMIM:118800
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Paroxysmal choreoathetosis, Difficulty walking, Frequent falls OMIM:500003
Frontotemporal Dementia
Polyphagia, Amyotrophic lateral sclerosis, Apathy, Inappropriate laughter, Inappropriate sexual b... OMIM:600274
Glut1 Deficiency Syndrome 1
Paralysis, Babinski sign, Paroxysmal dystonia, Choreoathetosis, Myoclonus, Paroxysmal lethargy, H... OMIM:606777
Spinocerebellar Ataxia 43
Rigidity, Distal sensory impairment, Tremor, Ataxia, Limb ataxia, Gait ataxia OMIM:617018
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Hand tremor, Gliosis, Fasciculations, Tetraplegia, Distal sensory impairment, D... OMIM:604484
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Developmental And Epileptic Encephalopathy 37
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movements, Spasticity OMIM:616981
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Dysphagia, Rigidity, Chorea, Abnormality of extrapyramidal motor function, Abnormal pyr... OMIM:617672
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Dystonia, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, ... ORPHA:71277
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Dysphagia, Fasciculations, Tremor, Inability to walk, Abnormal sensory nerve co... ORPHA:276435
Foxg1 Syndrome
Dystonia, Inappropriate crying, Paroxysmal bursts of laughter, Choreoathetosis, Cognitive impairm... ORPHA:561854
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Dementia, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia,... OMIM:615362
Pelizaeus-Merzbacher Disease
Dystonia, Dysphagia, Optic atrophy, Head titubation, Choreoathetosis, Failure to thrive, Cognitiv... OMIM:312080
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Dementia, Kinetic tremor, Chorea, Fasciculations, Progressive cerebell... ORPHA:98756
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis, Dysphagia, Dystonia, Amyotrophic lateral sclerosis, Gliosis, Frontotemporal... OMIM:300857
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Dementia, Chorea, Cognitive impairment, Apathy, Motor tics, Parkinsonism, Anxiety, Dep... OMIM:615483
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Athetosis, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Impaired social interactions, Stereotypy OMIM:606053
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations OMIM:615048
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Gait disturbance, Tremor OMIM:300660
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Clonus, Dysphagia, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Abnormal... ORPHA:13
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Apathy, Extrapyramidal dyskinesia, Gliosis, Paraparesis, Abnormal ... OMIM:105550
Progressive Supranuclear Palsy
Dystonia, Dysphagia, Dementia, Rigidity, Cognitive impairment, Gliosis, Falls, Bradykinesia, Trem... ORPHA:683
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Choreoathetosis, Myoclonus, Inability to walk, Hyperkinetic movements OMIM:618497
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Cognitive impairment, Tremor, Ataxia, Irritability OMIM:612126
Striatal Degeneration, Autosomal Dominant 2
Parkinsonism, Chorea, Mental deterioration OMIM:616922
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Jerky head movements, Torticollis, Focal dyston... ORPHA:98807
Dystonia With Ringbinden
Dystonia, Chorea, Gait disturbance OMIM:224550
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Shyness OMIM:618221
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Dysphagia, Limb hypertonia, Impaired pain sensation, Chorea, Aggressive behavior, Abnor... ORPHA:500180
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Dementia, Motor deterioration, Cognitive impairment, Myoclonus, Abnormality of extrap... ORPHA:79262
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Dementia, Tremor, Ataxia, Apraxia, Spasticity, Depression OMIM:615889
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Dysmetria, Chorea, Poor eye contact, Ataxia, Inability to walk, Gait ataxia OMIM:618501
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Stereotypy, Irritability, Spasticity, Difficulty walking OMIM:617393
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Dementia, Frequent falls, Myoclonus, Facial palsy, Fasciculations, Tremor, Tongue fasciculations,... OMIM:159950
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Dysphagia, Limb hypertonia, Rigidity, Choreoathetosis, Progressive neurologic deteriora... OMIM:233910
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures
Dystonia, Chorea, Spasticity OMIM:613970
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Self-mutilation, Gliosis, Stereotypy, Tremor, Hyperkinet... ORPHA:457240
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Dysphagia, Limb myoclonus, Jerky head movements, Rigidity, Frequent falls,... ORPHA:240103
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Dementia, Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty wal... ORPHA:85292
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Choreoathetosis, Failure to thrive, Myoclonus, Irritability OMIM:609056
Pontocerebellar Hypoplasia, Type 2C
Dystonia, Chorea OMIM:612390
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Aggressive behavior, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broa... OMIM:619470
Hereditary Late-Onset Parkinson Disease
Dystonia, Dysphagia, Dementia, Orthostatic hypotension due to autonomic dysfunction, Rigidity, Fr... ORPHA:411602
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Small for gestational age, Gliosis, Increased body mass index, Truncal obesity,... OMIM:300957
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Chorea, Optic nerve hypoplasia, Spastic tetraplegia, Hypertonia, Inability to ... OMIM:617864
Parkinson Disease 1, Autosomal Dominant
Gait disturbance, Dysphagia, Dystonia, Dementia, Rigidity, Myoclonus, Shuffling gait, Bradykinesi... OMIM:168601
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Agoraphobia, Myoclonus, Tremor, Anxiety, Depression OMIM:159900
Migraine, Familial Hemiplegic, 1
Hemiparesis, Tremor, Ataxia, Hemiplegia, Anxiety OMIM:141500
Machado-Joseph Disease
Babinski sign, Dysphagia, Dystonia, Dementia, Rigidity, Gliosis, Abnormality of extrapyramidal mo... OMIM:109150
Spinocerebellar Ataxia Type 31
Tremor, Impaired vibratory sensation, Gait ataxia, Spasticity ORPHA:217012
Developmental And Epileptic Encephalopathy 14
Clonus, Gliosis, Poor eye contact, Tetraplegia, Spasticity OMIM:614959
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity, Impulsivity, Depression ORPHA:88616
Juvenile Amyotrophic Lateral Sclerosis
Oromandibular dystonia, Clonus, Opisthotonus, Amyotrophic lateral sclerosis, Hypertonia, Dystonia... ORPHA:300605
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Developmental And Epileptic Encephalopathy 27
Dystonia, Chorea, Spasticity OMIM:616139
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... OMIM:607317
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Impaired oropharyng... ORPHA:53351
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Gait disturbance, Abnormality of somatosensory evoked ... ORPHA:206594
Spinocerebellar Ataxia, X-Linked 3
Optic atrophy, Dysphagia, Optic disc pallor, Head titubation, Dementia, Dysmetria, Gliosis, Inten... OMIM:301790
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Babinski sign, Dysphagia, Dystonia, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titub... OMIM:607483
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Pontocerebellar Hypoplasia, Type 2D
Chorea, Clonus, Irritability, Spastic tetraplegia OMIM:613811
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Facial Onset Sensory And Motor Neuronopathy
Dysphagia, Paresthesia, Fasciculations ORPHA:85162
3-Methylglutaconic Aciduria Type 3
Ataxia, Gait disturbance, Spastic paraparesis, Choreoathetosis ORPHA:67047
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Depression, Slowed slurred speech, Astrocytosis OMIM:172500
Atypical Rett Syndrome
Involuntary movements, Gait disturbance, Dystonia, Inappropriate crying, Limb myoclonus, Panic at... ORPHA:3095
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Aggressive behavior, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity... OMIM:612716
Neuroferritinopathy
Involuntary movements, Babinski sign, Dysphagia, Dystonia, Arm dystonia, Leg dystonia, Writer's c... ORPHA:157846
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Developmental And Epileptic Encephalopathy 40
Myoclonus, Spasticity, Choreoathetosis OMIM:617065
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Rigidity, Falls, Bradykinesia, Apathy, Tremor, Parkinsonism with favorable response to ... ORPHA:240085
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Athetosis, Dysphagia, Dystonia, Self-injurious behavior, Chorea, Hyperkine... OMIM:617493
Pontocerebellar Hypoplasia, Type 11
Dysphagia, Happy demeanor, Poor coordination, Poor eye contact, Stereotypy, Ataxia, Inability to ... OMIM:617695
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Tremor, Truncal ataxia, Gait ataxia OMIM:618587
Developmental And Epileptic Encephalopathy 58
Inability to walk, Spastic diplegia, Optic atrophy, Stereotypy OMIM:617830
Proximal Myopathy With Extrapyramidal Signs
Involuntary movements, Dystonia, Optic atrophy, Progressive extrapyramidal movement disorder, Cho... ORPHA:401768
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Stereotypy DECIPHER:8
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis, Paresthesia, Failure to thrive OMIM:612740
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Dysphagia, Optic atrophy, Choreoathetosis, Self-mutilation, Tremor, Ataxia OMIM:619422
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Leukoencephalopathy With Vanishing White Matter
Gait disturbance, Optic atrophy, Gliosis, Emotional lability, Spasticity, Unsteady gait, Memory i... OMIM:603896
Autosomal Spastic Paraplegia Type 72
Postural tremor, Impaired vibration sensation at ankles, Rigidity, Spastic gait, Memory impairment ORPHA:401849
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Involuntary movements, Dystonia, Chorea, Ataxia, Inability to walk OMIM:617804
Leukodystrophy, Hypomyelinating, 2
Progressive spasticity, Babinski sign, Dystonia, Decreased motor nerve conduction velocity, Head ... OMIM:608804
Autosomal Dominant Cerebellar Ataxia
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculation... ORPHA:99
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Self-injurious behavior, Chorea, Stereotypy, Inability to walk, Stereotypical hand wrin... OMIM:618917
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Obesity, Cognitive impairment, Tremor, Ataxia, Incoordination, Unsteady gait, Abno... OMIM:614947
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Failure to thrive, Aggressive behavior, Stereotypy, Hyperactivity, Anx... OMIM:609425
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Polyphagia, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait, Obesity ORPHA:411515
Obesity, Hyperphagia, And Developmental Delay
Obesity, Poor eye contact, Polyphagia, Stereotypy OMIM:613886
Huntington Disease-Like 3
Dystonia, Chorea, Abnormal head movements, Cognitive impairment, Abnormality of extrapyramidal mo... ORPHA:157946
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Babinski sign, Orthostatic hypotension due to autonomic dysfunction, Pseudobulbar paralysis, Glio... OMIM:169500
Rapid-Onset Dystonia-Parkinsonism
Dysphagia, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, ... ORPHA:71517
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Aggressive behavior, Poor eye contact, Tremor, Ataxia, Hyperactivity, Spasticity OMIM:300983
Developmental And Epileptic Encephalopathy 1
Dystonia, Dysphagia, Choreoathetosis, Spastic tetraparesis, Hypertonia, Abnormal pyramidal sign, ... OMIM:308350
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Stereotypy OMIM:300271
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis, Anxiety OMIM:602066
Creutzfeldt-Jakob Disease
Dementia, Myoclonus, Apathy, Extrapyramidal muscular rigidity, Hemiparesis, Irritability, Anxiety... OMIM:123400
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dystonia, Limb hypertonia, Chorea, Resting tremor, Anxiety OMIM:606703
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
2,4-Dienoyl-Coa Reductase Deficiency
Dystonia, Choreoathetosis, Failure to thrive, Tetraplegia, Spasticity OMIM:616034
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus, Mental deterioration OMIM:616187
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Babinski sign, Clonus, Optic atrophy, Myoclonic spasms, Rigidity, Gliosis, Hypertonia, Abnormal a... OMIM:614498
Leukodystrophy, Hypomyelinating, 6
Dystonia, Optic atrophy, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity OMIM:612438
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Dysphagia, Amyotrophic lateral sclerosis, Apathy, Stereotypy, Emotional lability, ... OMIM:612069
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608631
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Myoclonus, Gliosis, Spasticity OMIM:225753
Infantile Dystonia-Parkinsonism
Parkinsonism, Dystonia, Limb hypertonia, Cerebral palsy, Chorea, Bradykinesia, Hypertonia, Irrita... ORPHA:238455
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300425
Autism
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:209850
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608636
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Cognitive impairment, Myocl... ORPHA:314632
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dysphagia, Limb fasciculations, Distal sensory impairment, Tremor, Inability to walk, Abnormal pe... ORPHA:90117
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Hemiparesis OMIM:607341
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Spinocerebellar Ataxia 1
Impaired proprioception, Decreased motor nerve conduction velocity, Paresthesia, Fasciculations, ... OMIM:164400
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Attention deficit hyperactivity disorder, Stereotypy OMIM:618709
Hemimegalencephaly
Optic atrophy, Abnormal neuron morphology, Myoclonus, Gliosis, Hemiparesis ORPHA:99802
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Substantia nigra gliosis, Parkinsonism OMIM:600116
Familial Dyskinesia And Facial Myokymia
Dystonia, Limb hypertonia, Chorea, Myoclonus, Resting tremor, Difficulty walking ORPHA:324588
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Self-injurious behavior, Chorea, Aggressive behavior, Myoclonus, Lower lim... ORPHA:485350
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cognitive impairment, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady g... OMIM:615768
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Motor deterioration, Abnormal neuron morphology, Falls, Shuffli... ORPHA:412066
Dentatorubral Pallidoluysian Atrophy
Impaired proprioception, Involuntary movements, Optic neuropathy, Dementia, Dyssynergia, Choreoat... ORPHA:101
Rabies
Paresthesia, Cerebral palsy, Vocal cord paresis, Anxiety, Attention deficit hyperactivity disorde... ORPHA:770
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ataxia, Fasciculat... ORPHA:397946
Chorea, Remitting, With Nystagmus And Cataract
Chorea OMIM:601372
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Babinski sign, Small for gestational age, Frequent falls, Torticollis, Choreoathetosis, Ataxia, L... OMIM:619054
Spinocerebellar Ataxia Type 28
Babinski sign, Dystonia, Kinetic tremor, Rigidity, Cognitive impairment, Spasticity, Head tremor,... ORPHA:101109
Spinocerebellar Ataxia Type 17
Involuntary movements, Parkinsonism, Gait disturbance, Dystonia, Rigidity, Writer's cramp, Tortic... ORPHA:98759
Progressive Myoclonic Epilepsy Type 1
Dementia, Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia ORPHA:308
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Stereotypy OMIM:239500
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Dysphagia, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inabi... ORPHA:2590
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Encephalopathy, Recurrent, Of Childhood
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... OMIM:130950
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Depression, Spasticity OMIM:614307
Developmental And Epileptic Encephalopathy 6B
Dystonia, Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Inability to walk, Hyperkinetic... OMIM:619317
Pleoconial Myopathy With Salt Craving
Paralysis, Salt craving OMIM:262900
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Ataxia, Bradykinesia, Lethargy OMIM:618683
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis, Difficulty walking OMIM:608634
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Mental deterioratio... OMIM:615924
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Self-injurious behavior, Chore... ORPHA:382
Spinocerebellar Ataxia Type 37
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... ORPHA:363710
Mental Retardation With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Self-injurious behavior, Obesity, Aggressive behavior, Speech aprax... OMIM:613670
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Aggressive behavior, Bradykinesia, Tremor, Apraxia, Spasticity, F... OMIM:612953
Spinocerebellar Ataxia 12
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tr... OMIM:604326
Folinic Acid-Responsive Seizures
Dystonia, Optic atrophy, Chorea, Spastic tetraparesis, Ataxia, Hypertonia, Irritability, Broad-ba... ORPHA:79097
Friedreich Ataxia
Impaired proprioception, Babinski sign, Dysphagia, Dystonia, Impaired visually enhanced vestibulo... ORPHA:95
Neuronopathy, Distal Hereditary Motor, Type Viib
Vocal cord paralysis, Facial palsy, Abnormal lower motor neuron morphology OMIM:607641
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea OMIM:614055
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Cognitive impairment, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, ... OMIM:615528
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Babinski sign, Optic atrophy, Steppage gait, Decreased... OMIM:609260
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Babinski sign, Dystonia, Choreoathetosis, Obesity, Spastic gait, Shuffling gait, Bradykinesia, Sp... OMIM:300055
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Dysphagia, Choreoathetosis, Dysmetria, Ataxia, Spasticity OMIM:618088
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Paresthesia, Choreoathetosis, Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegi... ORPHA:53583
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Dementia, Aggressive behavior, Falls, Bradykinesia, Spastic tetraple... OMIM:617225
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Gait disturbance, Dementia, Tremor by anatomical site, Cognitive i... ORPHA:98762
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Dementia, Li... ORPHA:454887
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Optic atrophy, Poor coordination, Dysmetria, Spastic ataxia, Tremor, A... OMIM:270500
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Dysphagia, Failure to thrive, Chorea, Progressive neurologic deterioration, Ataxia, Inability to ... ORPHA:70472
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Neurodegeneration With Brain Iron Accumulation 2B
Babinski sign, Dysphagia, Dystonia, Optic atrophy, Dysmetria, Chorea, Bradykinesia, Intention tre... OMIM:610217
Glutathionuria
Tremor OMIM:231950
Developmental And Epileptic Encephalopathy 78
Cerebral palsy, Chorea, Poor eye contact, Inability to walk, Spasticity OMIM:618557
Myopathy, Spheroid Body
Tremor, Dysphagia, Waddling gait, Broad-based gait OMIM:182920
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Chorea, Cognitive impai... ORPHA:309246
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Cataract 11, Multiple Types
Chorea, Hypertonia OMIM:610623
Intellectual Developmental Disorder, X-Linked 109
Poor coordination, Aggressive behavior, Hyperactivity, Stereotypical body rocking, Impulsivity, R... OMIM:309548
2P21 Microdeletion Syndrome
Hypogonadism, Long eyelashes, Low-set, posteriorly rotated ears, Hypocalcemia ORPHA:163693
Leigh Syndrome
Dystonia, Optic atrophy, Failure to thrive, Gliosis, Ataxia, Emotional lability, Spasticity OMIM:256000
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Distal sensory impairment, Myoclonus, Abnormality of extrapyramidal motor function, Gliosis OMIM:604218
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Optic atrophy, Choreoathetosis, Failure to thrive, Spastic tetraplegia, Spasticity OMIM:618238
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Babinski sign, Dystonia, Optic atrophy, Orthostatic hypotension due to autonomic dysf... ORPHA:309271
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Shuffling gait, Bradykinesia, Falls, Apathy, Resting tremor, Short stepped shuffling ga... ORPHA:306692
Chorea, Benign Familial
Chorea OMIM:215450
Mitochondrial Complex I Deficiency, Nuclear Type 12
Abnormality of extrapyramidal motor function, Choreoathetosis OMIM:301020
Alpha-Heavy Chain Disease
Alopecia, Premature ovarian insufficiency, Hypocalcemia ORPHA:100025
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Dementia, Myoclonus, Abnormality of extrapyramidal motor function, Ataxia, Parkinsonism, Depression OMIM:162350
Dopa-Responsive Dystonia
Irritability, Panic attack, Anxiety, Oculogyric crisis, Abnormal social behavior, Lethargy, Gait ... ORPHA:255
Jaberi-Elahi Syndrome
Dystonia, Optic atrophy, Choreoathetosis, Dysmetria, Failure to thrive, Tremor, Inability to walk... OMIM:617988
Tay-Sachs Disease
Clumsiness, Fasciculations, Incoordination, Anxiety, Gait disturbance, Dysmetria, Decerebrate rig... ORPHA:845
Behr Syndrome
Progressive spasticity, Babinski sign, Gait disturbance, Optic atrophy, Dysmetria, Tremor, Ataxia OMIM:210000
Spinocerebellar Ataxia Type 14
Rigidity, Cognitive impairment, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Ga... ORPHA:98763
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy, Mental deterioration, Gliosis, Hemiparesis OMIM:613002
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia ORPHA:640
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Dementia, Choreoathetosis, Cognitive impairment, Distal sensory impairment, Tremor, Ocu... OMIM:208920
Ataxia-Telangiectasia-Like Disorder
Dystonia, Frequent falls, Dysmetria, Chorea, Myoclonus, Intention tremor, Oculomotor apraxia, Ata... ORPHA:251347
Sneddon Syndrome
Dementia, Chorea, Hemiparesis, Tremor, Mental deterioration, Memory impairment ORPHA:820
Spinocerebellar Ataxia 19
Postural tremor, Dysphagia, Cognitive impairment, Myoclonus, Cogwheel rigidity, Progressive cereb... OMIM:607346
Myoclonus-Dystonia Syndrome
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus, Personality d... ORPHA:36899
Fraxe Intellectual Disability
Clumsiness, Aggressive behavior, Stereotypical body rocking, Hyperactivity, Impulsivity, Recurren... ORPHA:100973
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Paralysis, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Gait ataxia OMIM:606183
Choreoacanthocytosis
Dystonia, Dysphagia, Dementia, Progressive choreoathetosis, Self-mutilation of tongue and lips du... OMIM:200150
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Dementia, Myoclonus, Abnormality of extrapyramidal motor function, Ataxia, Depression OMIM:204300
Spinocerebellar Ataxia 42
Babinski sign, Dysphagia, Impaired vibration sensation at ankles, Spastic gait, Cognitive impairm... OMIM:616795
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:613728
Lethal Congenital Contracture Syndrome 7
Oral-pharyngeal dysphagia, Paralysis, Facial diplegia OMIM:616286
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia, Gliosis, Apathy, Repetitive compulsive behavior, Hypersexuality, Apraxia, Disinhibiti... OMIM:607485
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Basal ganglia gliosis, Fasciculations, Degeneration of anterior horn cells OMIM:607596
Monomelic Amyotrophy
Tremor, Abnormality of peripheral nerve conduction, Fasciculations, Degeneration of anterior horn... ORPHA:65684
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Tremor, Ataxia, Abnormal nerve conduction velocity ORPHA:101075
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Irritability, Prolonged brainstem auditory evoked potentials, Hemiplegia, Acroparesth... ORPHA:206443
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Rigidity, Bradykinesia, Decreased amplitude of sensory... OMIM:619279
Sporadic Infantile Bilateral Striatal Necrosis
Babinski sign, Dysphagia, Gait disturbance, Dystonia, Inappropriate crying, Chorea, Bradykinesia,... ORPHA:225147
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Abnormal head movements, Apathy, Ataxia, Irritability ORPHA:71518
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Decreased motor nerve conduction velocity OMIM:605285
Horner Syndrome, Congenital
Paralysis, Congenital Horner syndrome OMIM:143000
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Parkinsonism, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:105500
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Obesity, Aggressive behavior, Shuffling gait, Lower limb ... ORPHA:3077
Huntington Disease-Like 3
Dystonia, Chorea, Abnormality of extrapyramidal motor function, Ataxia, Spasticity, Unsteady gait... OMIM:604802
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Leukodystrophy, Hypomyelinating, 4
Progressive spasticity, Babinski sign, Choreoathetosis OMIM:612233
Pettigrew Syndrome
Self-injurious behavior, Gait ataxia, Spasticity, Choreoathetosis OMIM:304340
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Dementia, Rigidity, Aggressive behavior, Abnormality of extrapyramidal motor function, ... OMIM:300894
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Gait disturbance, Tremor, Inability to walk, Difficult... ORPHA:101077
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Dystonia, Babinski sign, Choreoathetosis, Chorea, Poor eye contact, Spasticity OMIM:618451
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Dysphagia, Absent brainstem auditory responses, Choreoathetosis OMIM:617519
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Steppage gait, Impaired temperature sensation, Impaired pain sensation, Limb fasciculations ORPHA:99940
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Albinism, Hearing impairment OMIM:600501
Dystonia 9
Dystonia, Paresthesia, Choreoathetosis, Cognitive impairment, Episodic ataxia, Spastic paraplegia... OMIM:601042
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Failure to thrive OMIM:618951
Dystonia 16
Postural tremor, Dysphagia, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Pa... ORPHA:210571
Xq28 (MECP2) duplication
Progressive spasticity, Dysphagia, Failure to thrive, Stereotypy, Inability to walk, Anxiety, Gai... DECIPHER:45
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Progressive spasticity, Dysphagia, Rigidity, Chorea, Lower limb spasticity, Poor eye contact, Ste... OMIM:300260
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Small for gestational age, Choreoathetosis, Episodic ataxia, Lethargy OMIM:312170
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity, Difficulty walking, Fasciculations OMIM:615575
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Inappropriate crying, Self-injurious behavior, Stereotypical hand wringing, Hyperkinetic movement... ORPHA:397933
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism, Anxiety, Depression OMIM:605909
Schimke X-Linked Mental Retardation Syndrome
Spasticity, Choreoathetosis OMIM:312840
Caribbean Parkinsonism
Dystonia, Dementia, Weakness due to upper motor neuron dysfunction, Rigidity, Orthostatic hypoten... ORPHA:97355
Spastic Paraplegia 50, Autosomal Recessive
Babinski sign, Cerebral palsy, Gliosis, Spastic tetraplegia, Spastic paraplegia OMIM:612936
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Spinocerebellar Ataxia Type 27
Gait disturbance, Hand tremor, Aggressive behavior, Tremor, Truncal ataxia, Akinesia, Limb ataxia... ORPHA:98764
Xylosidase Deficiency
Choreoathetosis OMIM:278900
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Polyphagia, Self-injurious behavior, Stereotypy, Hyperactivity, At... ORPHA:228402
Alpers-Huttenlocher Syndrome
Progressive spasticity, Choreoathetosis, Myoclonus, Paraparesis, Ataxia, Spasticity, Spastic para... ORPHA:726
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor ORPHA:2589
Polymyoclonus, Infantile
Ataxia, Myoclonus, Irritability OMIM:263550
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Paralysis, Dementia, Failure to thrive, Myoclonus, Gliosis, Astrocytosis, Ataxia, Hypertonia OMIM:203700
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Babinski sign, Optic atrophy, Impaired temperature sensation, Paresthesia, Frequ... ORPHA:99947
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Stereotypy, Tremor, Hyperactivity, Inabil... OMIM:618718
Epilepsy, Familial Adult Myoclonic, 3
Giant somatosensory evoked potentials, Myoclonus, Enhancement of the C-reflex, Tremor, Difficulty... OMIM:613608
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Self-injurious behavior, Chorea, Stereotypy, Eyelid myoclonus, Spasticity, Oral-pharyng... ORPHA:178469
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Gait disturbance, Dementia, Rigidity, Decreased sensor... OMIM:603472
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Dysphagia, Amyotrophic lateral sclerosis, Apathy, Fasciculations, Abnormal lower motor neuron mor... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Dysphagia, Amyotrophic lateral sclerosis, Apathy, Fasciculations, Abnormal lower motor neuron mor... OMIM:616437
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Myoclonus, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity diso... OMIM:619191
Paroxysmal Kinesigenic Dyskinesia
Athetosis, Dystonia, Involuntary movements, Writer's cramp, Chorea ORPHA:98809
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Distal sensory impairment, Steppage gait, Decreased motor nerve conduction velocity, Fasciculations OMIM:606595
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Myoclonus, Familial, 1
Ataxia, Myoclonus, Falls, Frequent falls OMIM:614937
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Epilepsy, Progressive Myoclonic, 11
Rigidity, Giant somatosensory evoked potentials, Myoclonus, Intention tremor, Ataxia OMIM:618876
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Ataxia ORPHA:101078
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dysphagia, Optic disc pallor, Myoclonic spasms, Dementia, Poor motor coordination, Mo... ORPHA:79264
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... ORPHA:464440
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Unsteady gait, Truncal ataxia, Tremor OMIM:616127
Metachromatic Leukodystrophy
Babinski sign, Gait disturbance, Dystonia, Optic atrophy, Chorea, Decreased nerve conduction velo... OMIM:250100
Supranuclear Palsy, Progressive, 1
Dysphagia, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Frontolimbic dementia, Glios... OMIM:601104
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Dystonia, Shyness, Spastic dysarthria, Stereotypy, Waddling gait, Difficulty walki... ORPHA:280763
Gm2-Gangliosidosis, Ab Variant
Paralysis, Dystonia, Dementia, Chorea, Apathy, Exaggerated startle response, Spastic tetraparesis... OMIM:272750
Pelizaeus-Merzbacher Disease, Connatal Form
Dystonic gait, Failure to thrive, Gliosis, Lower limb spasticity, Ataxia, Inability to walk, Titu... ORPHA:280210
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, Ataxia, Impulsivity OMIM:619028
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Babinski sign, Dysphagia, Amyotrophic lateral sclerosis, Lower limb spasticity, Fasciculations, A... OMIM:613954
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... ORPHA:101110
Acute Peripheral Arterial Occlusion
Paralysis, Impaired distal tactile sensation, Paresthesia ORPHA:90064
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Myoclonus, Tremor, Prolonged somatosensory evoked potentials OMIM:608105
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Optic atrophy, Dementia, Rigidity, Aggressive behavior, Bradykinesia, Tremor, Parkinson... ORPHA:329284
Multiple System Atrophy, Cerebellar Type
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Axial dyston... ORPHA:227510
Riboflavin Transporter Deficiency
Dysphagia, Optic disc pallor, Abnormal cranial nerve morphology, Cachexia, Aggressive behavior, M... ORPHA:97229
Angelman Syndrome
Optic atrophy, Dysphagia, Optic disc pallor, Happy demeanor, Polyphagia, Self-injurious behavior,... ORPHA:72
Paralysis Agitans, Juvenile, Of Hunt
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Rigidity, Bradykinesia, Fasciculations, Decreased nerve conduction velocity, Ataxia, Spasticity OMIM:183050
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Dystonia 23
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Kufor-Rakeb Syndrome
Babinski sign, Dysphagia, Gait disturbance, Dystonia, Dementia, Rigidity, Torticollis, Aggressive... OMIM:606693
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia... OMIM:618877
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Orthostatic hypotension, Bradykinesia, Tremor, Resting tremor OMIM:616710
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Dystonia, Opisthotonus, Choreoathetosis, Spastic tetraparesis, Inability to walk, Generalized dys... OMIM:619653
Insulinoma
Paresthesia, Polyphagia, Abnormality of pain sensation, Tremor, Transient global amnesia, Anxiety... ORPHA:97279
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Chorea, Waddling gait, Difficulty walking, Truncal ataxia ORPHA:369840
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Hsd10 Mitochondrial Disease
Optic atrophy, Choreoathetosis, Aggressive behavior, Progressive neurologic deterioration, Spasti... OMIM:300438
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Mood swings, Limb hypertonia, Opisthotonus, Happy demeanor, Choreoathetosis, Paroxysmal bursts of... OMIM:619580
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Hearing impairment OMIM:619658
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Combined Oxidative Phosphorylation Deficiency 13
Dystonia, Decreased nerve conduction velocity, Choreoathetosis OMIM:614932