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
absent vibrissae Atp2b1tm1b(KOMP)Wtsi HET Early adult 3.55×10-07
abnormal epididymis morphology Atp2b1tm1b(KOMP)Wtsi HET Early adult 0.00
decreased circulating calcium level Atp2b1tm1b(KOMP)Wtsi HET   Early adult 3.54×10-05
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
preweaning lethality, incomplete penetrance Atp2b1tm1b(KOMP)Wtsi HOM   Early adult 0.00
enlarged epididymis Atp2b1tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal auditory brainstem response Atp2b1tm1b(KOMP)Wtsi HET   Early adult 3.73×10-06

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 100% (2 of 2)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote Not available
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available

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

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

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

Anatomy Background staining in controls (WT)
adrenal gland 0.37% (2 of 547)
aorta 0.0%
blood 0.0%
bone marrow 0.0%
brain 0.72% (4 of 556)
brainstem 0.36% (2 of 557)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 553)
cecum 5.67% (20 of 353)
cerebellum 0.55% (3 of 546)
cerebral cortex 0.36% (2 of 555)
chest bone Unavailable
colon 16.15% (21 of 130)
diaphragm 0.0%
duodenum 3.2% (4 of 125)
epididymis 14.49% (20 of 138)
esophagus 1.57% (6 of 383)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.78% (1 of 129)
heart 0.36% (2 of 559)
hindlimb 0.0%
hippocampus 0.55% (3 of 544)
hypothalamus 0.36% (2 of 550)
ileum 14.84% (19 of 128)
jejunum 9.45% (12 of 127)
kidney 4.83% (27 of 559)
large intestine 5.25% (29 of 552)
liver 0.0%
lower urinary tract 0.18% (1 of 552)
lung 0.36% (2 of 550)
lymph node 0.18% (1 of 557)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.33% (1 of 306)
midbrain 0.0%
olfactory lobe 0.37% (2 of 545)
ovary 0.18% (1 of 560)
oviduct 0.0%
pancreas 0.91% (5 of 550)
parathyroid gland 0.19% (1 of 536)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.18% (1 of 548)
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 1.97% (11 of 558)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.4% (30 of 556)
spinal cord 0.54% (3 of 557)
spleen 0.55% (3 of 543)
stomach 3.78% (21 of 556)
stomach pyloric region 0.0%
striatum 0.55% (3 of 546)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.09% (6 of 550)
thymus 0.18% (1 of 551)
thyroid gland 3.1% (17 of 549)
tongue 4.03% (5 of 124)
trachea 0.54% (3 of 555)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.37% (2 of 541)
vagina 0.0%
vas deferens 4.1% (15 of 366)
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 510)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
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

X-ray

XRay Images Hind Leg and Hip

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 Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

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.

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
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Optic atrophy, Tremor, Spasticity, Limb dystonia, Emotional lability, Depression, Abnorma... ORPHA:216873
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Apathy, Frontotemporal dementia, Myoclonus, Babinski sign, Rigidity, Inappropri... OMIM:600795
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Apathy, Frontotemporal dementia, Abulia, Mental deterioration, Inappropriate be... ORPHA:275864
Familial Infantile Bilateral Striatal Necrosis
Hypertonia, Ataxia, Loss of ambulation, Failure to thrive, Myoclonus, Babinski sign, Basal gangli... ORPHA:225154
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Cognitive impairment, Depression, Myoclonus, Anxiety, Rigidity, Parkinsonism, Chorea, Mem... ORPHA:401901
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Gliosis, Mental deterioration, Depression, Frequent falls, Gait ataxia, Spasticity, ... OMIM:618369
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Gliosis, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Depres... OMIM:607136
Huntington Disease
Gait imbalance, Inability to walk, Mental deterioration, Babinski sign, Chorea, Difficulty walkin... ORPHA:399
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Gait disturbance, Optic atrophy, Involuntary mo... OMIM:617282
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Progressive cerebellar ataxia, Babinski sign, Akine... ORPHA:282166
Huntington Disease-Like 1
Dysmetria, Depression, Anxiety, Rigidity, Basal ganglia gliosis, Chorea, Aggressive behavior, Uns... OMIM:603218
Huntington Disease-Like 2
Parkinsonism, Chorea, Memory impairment, Gait disturbance, Involuntary movements, Weight loss, Dy... ORPHA:98934
Pick Disease Of Brain
Motor stereotypy, Apathy, Gliosis, Emotional blunting, Polyphagia, Disinhibition, Inappropriate l... OMIM:172700
Optic Atrophy 2
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Gliosis, Bradykinesia, Mental deterioration, Depression, Rigidity, Parkinsonism, Memory impairmen... OMIM:221820
Huntington Disease-Like 2
Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Rigidity, Chorea, Weight loss, Dystonia... OMIM:606438
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Mental deterioration, Cachexia, Depression, Babinski sign, Parkinsonism, Anxie... OMIM:618093
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Gait disturbance, Emotional lability, Dysphagia, Dementia OMIM:607674
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Parkinsonism, Chorea, Athetosis, Motor tics, D... OMIM:615483
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Gliosis, Cognitive impairment, Myoclonus, Babinski sign, Abnormal pyramidal sign, Akineti... ORPHA:204
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Chorea, Falls, Aggressive behavior, Paroxysmal dyski... OMIM:619150
Huntington Disease
Gliosis, Bradykinesia, Depression, Rigidity, Chorea, Gait ataxia, Dementia OMIM:143100
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Aggressive behavior, Torsion dystonia, Pa... ORPHA:98811
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Dystonia, Dementia OMIM:125370
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gliosis, Frontotemporal dementia, Athetosis, Paralysis, Dysphagia,... OMIM:300857
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Bradykinesia, Dysmetria, Mental deterioration, Abnormal pyramidal sign, Parkinsonism, Cho... OMIM:618317
Chorea, Benign Hereditary
Gait disturbance, Anxiety, Chorea OMIM:118700
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Mental deterioration, Depression, Dysdiadochokinesis, Abnormal pyramidal sign, Park... OMIM:213600
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea, Dystonia OMIM:618760
Huntington Disease-Like 1
Gliosis, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, Cognitive impairment,... ORPHA:157941
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... ORPHA:98810
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Mental deterioration, Babinski sign, Chorea, Optic atro... OMIM:164500
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Gliosis, Limb ataxia, Dysmetria, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordi... OMIM:213200
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Apathy, Gliosis, Progressive cerebellar ataxia, Frontotemporal dementia, Depression,... ORPHA:275872
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Depression, Myoclonus, Rig... ORPHA:248111
Progressive Non-Fluent Aphasia
Depression, Anxiety, Parkinsonism, Astrocytosis, Abnormal lower motor neuron morphology, Apraxia,... ORPHA:100070
Striatonigral Degeneration, Infantile, Mitochondrial
Lingual dystonia, Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Difficulty walkin... OMIM:500003
Neurodevelopmental Disorder With Involuntary Movements
Self-injurious behavior, Hyperkinetic movements, Chorea, Athetosis, Involuntary movements, Spasti... OMIM:617493
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Mental deterioration, Abnormal pyramidal sign, Gait disturbance, Tremor, Spas... OMIM:614561
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Self-injurious behavior, Myoclonus, Oculogyric crisis, Hyperkinetic movements,... OMIM:614254
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dystonia, Babinski sign... ORPHA:251282
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... ORPHA:95434
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Depression, Anxiety, Parkinsonism, Hyperkinetic movements, Cho... OMIM:619738
Spinocerebellar Ataxia Type 1
Gait imbalance, Impaired proprioception, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, ... ORPHA:98755
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Self-injurious behavior, Pica, Spastic diplegia, Choreoathetosis, Aggressive be... OMIM:617270
Childhood-Onset Benign Chorea With Striatal Involvement
Parkinsonism with favorable response to dopaminergic medication, Anxiety, Chorea ORPHA:494541
3-Methylglutaconic Aciduria, Type Iii
Ataxia, Cognitive impairment, Babinski sign, Chorea, Optic atrophy, Spasticity, Abnormality of ex... OMIM:258501
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, Euphoria, Myoclonus, Babinski sign, Inappropriate behavior, Memory impairment, Gait dist... OMIM:221770
Spinocerebellar Ataxia 37
Ataxia, Frequent falls, Tremor, Unsteady gait, Dysphagia OMIM:615945
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Cognitive impairment, Myoclonus, Myo... ORPHA:79263
Neurodegeneration With Brain Iron Accumulation
Rigidity, Chorea, Optic atrophy, Spasticity, Dystonia, Abnormality of extrapyramidal motor function ORPHA:385
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Sydenham Chorea
Inappropriate behavior, Chorea, Hemiballismus, Unsteady gait, Emotional lability, Irritability ORPHA:306731
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Cognitive impairment, Babinski sign, Tremor, Spasticity OMIM:611105
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Depression, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tr... OMIM:619491
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... ORPHA:71277
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Hand tremor, Degeneration of anterior horn cells, Distal sensory impairment, Gait distur... OMIM:604484
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia OMIM:617018
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Decreased body weight, Mental deterioration, Abnormal pyramidal sign, Parkinsonism, Rigid... OMIM:617672
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Bradykinesia, Laryngeal dystonia, Babinski sign, Parkinsonism, Rigidity, C... OMIM:606159
N-Acetylaspartate Deficiency
Motor stereotypy, Decreased body weight, Self-mutilation, Truncal ataxia, Unsteady gait OMIM:614063
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Developmental And Epileptic Encephalopathy 37
Myoclonus, Hyperkinetic movements, Rigidity, Chorea, Gait disturbance, Cogwheel rigidity, Choreoa... OMIM:616981
Encephalopathy, Recurrent, Of Childhood
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordinati... OMIM:130950
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Inability to walk, Poor eye contact, Self-injurious behavior, Involuntary movem... OMIM:617820
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Mental deterioration, Depression, Myoclonus, Babinski sign, Tremor, Emotional lability, A... OMIM:615362
Dystonia With Ringbinden
Gait disturbance, Dystonia, Chorea OMIM:224550
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Gait disturbance, Tremor, Impaired distal vibration sensation,... ORPHA:276435
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Apathy, Inappropriate sexual behavior, Parkinsonism, Frontal lobe ... OMIM:600274
Spinocerebellar Ataxia Type 2
Progressive cerebellar ataxia, Parkinsonism, Fasciculations, Chorea, Kinetic tremor, Gait ataxia,... ORPHA:98756
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Depression, Myoclonus, Oculogyric crisis, Rigidit... ORPHA:13
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Impaired social interactions, Inability to walk OMIM:606053
Progressive Supranuclear Palsy
Gliosis, Blepharospasm, Bradykinesia, Impulsivity, Cognitive impairment, Depression, Rigidity, Fa... ORPHA:683
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Chorea, Progressive extrapyramidal movement disorder, Athetosis,... ORPHA:382
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance OMIM:300660
Basal Ganglia Calcification, Idiopathic, 6
Cognitive impairment, Depression, Parkinsonism, Memory impairment, Involuntary movements, Choreoa... OMIM:616413
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Clumsiness, Impulsivity, Depression, Chorea,... ORPHA:66624
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis, Amyotrophic lateral sclerosis, Apathy, Gliosis, Extrapyramidal dyskinesia, Depressio... OMIM:105550
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Poor eye contact, Dysmetria, Chorea, Gait ataxia OMIM:618501
Dystonia 12
Torticollis, Bradykinesia, Depression, Anxiety, Parkinsonism, Tremor, Unsteady gait, Emotional la... OMIM:128235
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Paroxysmal... OMIM:606777
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Depression, Tremor, Spasticity, Apraxia, Dystonia, Dementia OMIM:615889
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Impulsivity, Limb hypertonia, Abnormal pyramidal sign, Chorea, Gait ataxia, Sp... ORPHA:500180
Striatal Degeneration, Autosomal Dominant 2
Mental deterioration, Parkinsonism, Chorea OMIM:616922
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Cognitive impairment, Mental deterioration, Myoclonus, Abnormal pyramidal sig... ORPHA:79262
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Failure to thrive, Difficulty walking, Spasticity, Irritability OMIM:617393
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Gliosis, Self-mutilation, Depression, Anxiety, Hyperkinetic movements, Gait dis... ORPHA:457240
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Memory impairment, Difficulty walking, Po... ORPHA:85292
Machado-Joseph Disease
Ataxia, Gliosis, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Abnormal autonomic ner... OMIM:109150
Paroxysmal Kinesigenic Dyskinesia
Chorea, Athetosis, Writer's cramp, Involuntary movements, Dystonia ORPHA:98809
Intellectual Developmental Disorder, X-Linked 12
Gliosis, Small for gestational age, Depression, Increased body mass index, Hyperkinetic movements... OMIM:300957
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Anxiety, Chorea, Choreoathetosis, Involuntary movemen... OMIM:606703
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction ORPHA:423296
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome
Gait imbalance, Broad-based gait, Clumsiness, Poor eye contact, Tip-toe gait, Involuntary movemen... ORPHA:468620
Hereditary Late-Onset Parkinson Disease
Parkinsonism with favorable response to dopaminergic medication, Gliosis, Bradykinesia, Akinesia,... ORPHA:411602
Parkinson Disease 1, Autosomal Dominant
Gliosis, Bradykinesia, Resting tremor, Mental deterioration, Depression, Myoclonus, Rigidity, Par... OMIM:168601
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Anxiety, Hemiparesis, Tremor OMIM:141500
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Dementia, Degeneration of anterior horn cells, Myoclonus, Facial palsy, Tongue fasciculations, Fr... OMIM:159950
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Babi... OMIM:607483
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Par... OMIM:619725
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Striatonigral Degeneration, Infantile
Failure to thrive, Optic atrophy, Choreoathetosis, Spasticity, Dysphagia, Dystonia OMIM:271930
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Ataxia, Inability to walk, Chorea, Difficulty walking, Lower limb ... ORPHA:300605
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation ORPHA:217012
Developmental And Epileptic Encephalopathy 14
Gliosis, Poor eye contact, Spasticity, Clonus, Tetraplegia OMIM:614959
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea... OMIM:618917
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Progressive neurologic deterioration, Tremor, Choreoathetosis, Dysphagia, ... OMIM:261630
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia OMIM:618587
Spinocerebellar Ataxia, X-Linked 3
Gliosis, Dysmetria, Intention tremor, Unilateral vocal cord paralysis, Head titubation, Optic atr... OMIM:301790
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Gliosis, Myoclonus, Spasticity, Dysphagia OMIM:225753
Pontocerebellar Hypoplasia, Type 2D
Irritability, Spastic tetraplegia, Chorea, Clonus OMIM:613811
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Ataxia, Inability to walk, Chorea, Involuntary movements, Dystonia OMIM:617804
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Developmental And Epileptic Encephalopathy 27
Poor eye contact, Myoclonus, Chorea, Spasticity, Dystonia OMIM:616139
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior OMIM:618221
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Rigidity, Parkinsonism, Progressive ... OMIM:261640
Leukoencephalopathy With Vanishing White Matter
Gliosis, Memory impairment, Gait disturbance, Optic atrophy, Spasticity, Unsteady gait, Emotional... OMIM:603896
Neuroferritinopathy
Leg dystonia, Blepharospasm, Bradykinesia, Resting tremor, Cognitive impairment, Emotional labili... ORPHA:157846
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Fasciculations, Dysphagia ORPHA:85162
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Depression, Ataxia, Slowed slurred speech, Astrocytosis OMIM:172500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Optic atrophy, Tremor, Aggressive behavior, Spastic tetraparesis OMIM:619470
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Parkinsonism with favorable response to dopaminergic medication, Apathy,... ORPHA:240085
Foxg1 Syndrome
Motor stereotypy, Inability to walk, Poor eye contact, Decreased body weight, Cognitive impairmen... ORPHA:561854
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Hypertonia, Failure to thrive, Inability to walk, Optic nerve hypoplasia, Chorea, Spasticity, Spa... OMIM:617864
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Broad-based gait, Ataxia, Inability to walk, Poor eye contact, Decreased body w... OMIM:617695
Infantile Convulsions And Choreoathetosis
Chorea, Athetosis, Choreoathetosis, Involuntary movements, Paroxysmal dyskinesia, Dystonia ORPHA:31709
Huntington Disease-Like 3
Broad-based gait, Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Cognitive impairme... ORPHA:157946
Myoclonus, Intractable, Neonatal
Dysphagia, Myoclonus, Chorea, Athetosis OMIM:617235
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... ORPHA:401768
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, Poor eye contact, Inappropriate crying, Hand apraxia, Pill... ORPHA:3095
Porphyria, Acute Hepatic
Paresthesia, Failure to thrive, Paralysis, Respiratory paralysis OMIM:612740
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Choreoathetosis, Familial Inverted
Progressive choreoathetosis, Abnormal pyramidal sign, Rigidity, Gait disturbance, Dementia OMIM:118750
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Jerky head movements, Craniofacia... ORPHA:98807
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia, Inability to walk, Optic atrophy OMIM:617830
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Supranuclear Palsy, Progressive, 1
Gait imbalance, Frontolimbic dementia, Akinesia, Gliosis, Bradykinesia, Axial dystonia, Apathy, R... OMIM:601104
Dystonia 11, Myoclonic
Torticollis, Agoraphobia, Depression, Myoclonus, Anxiety, Tremor, Writer's cramp OMIM:159900
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Poor eye contact, Myoclonus, Anxiety, Tremor, Dystonia OMIM:619651
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Gliosis, Pseudobulbar paralysis, Autonomic erectile dysfunction, Orthostatic hypotension ... OMIM:169500
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Craniofacial dyston... ORPHA:71517
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy, Obesity, Polyphagia, Poor eye contact OMIM:613886
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Inability to walk, Self-injurious behavior, Hyperkinetic movements, Cho... OMIM:618218
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Pontocerebellar Hypoplasia, Type 2C
Dystonia, Chorea OMIM:612390
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Cognitive impairment, Abnormal pyramidal sign, Optic atrophy, Tremor, Unsteady gait, Inco... OMIM:614947
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Neurodevelopmental Disorder With Dystonia And Seizures
Self-injurious behavior, Anxiety, Chorea, Athetosis, Spastic tetraplegia, Dystonia OMIM:619922
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Cognitive impairment, Mental deterioration, Truncal atax... OMIM:208920
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Impulsivity, Depression, Chorea, Spasticity, Dystonia ORPHA:88616
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Hyperkinetic movements, Chorea, Choreoath... OMIM:619317
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Tremor, Ataxia, Myoclonus OMIM:616187
Hsd10 Disease
Ataxia, Spastic paraparesis, Abnormal social behavior, Myoclonus, Rigidity, Gait disturbance, Tre... ORPHA:391417
Creutzfeldt-Jakob Disease
Apathy, Extrapyramidal muscular rigidity, Depression, Myoclonus, Anxiety, Hemiparesis, Memory imp... OMIM:123400
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Astrocytosis OMIM:607341
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Cognitive impairme... ORPHA:314632
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypertonia, Gliosis, Abnormal autonomic nervous system physiology, Babinski sign, Rigidity, Myocl... OMIM:614498
Folinic Acid-Responsive Seizures
Broad-based gait, Hypertonia, Ataxia, Chorea, Optic atrophy, Difficulty walking, Spastic tetrapar... ORPHA:79097
Spinocerebellar Ataxia Type 17
Torticollis, Ataxia, Blepharospasm, Mental deterioration, Abnormal pyramidal sign, Parkinsonism, ... ORPHA:98759
Infantile Dystonia-Parkinsonism
Hypertonia, Bradykinesia, Limb hypertonia, Abnormal pyramidal sign, Parkinsonism, Cerebral palsy,... ORPHA:238455
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia ORPHA:324588
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Progressive neurologic deteriora... OMIM:616230
Hemimegalencephaly
Gliosis, Myoclonus, Hemiparesis, Optic atrophy, Abnormal neuron morphology ORPHA:99802
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Inability to walk, Mental deterioration, Myoclonus, Limb myoclonus, Abnormal lower mo... ORPHA:2590
Developmental And Epileptic Encephalopathy 17
Dystonia, Chorea, Athetosis OMIM:615473
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Ataxia, Bradykinesia, Chorea OMIM:618683
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... ORPHA:397946
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior OMIM:300496
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior OMIM:300425
Autism
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:209850
Autism, Susceptibility To, 8
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608636
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Substantia nigra gliosis, Dystonia OMIM:600116
Spinocerebellar Ataxia 1
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Chorea, Optic atrophy,... OMIM:164400
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Inability to walk, Abnormal peripheral action potential... ORPHA:90117
Myoclonus-Dystonia Syndrome
Torticollis, Spinal myoclonus, Depression, Myoclonus, Anxiety, Panic attack, Limb myoclonus, Writ... ORPHA:36899
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608631
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Failure to thrive, Chorea, Athetosis OMIM:309541
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Bradykinesia, Anxiety, Parkinsonism, Inappropriate behavior, Falls, Memory impairment, Ab... ORPHA:412066
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, Polyphagia, Obesity, Inappropriate laughter ORPHA:411515
Chorea, Remitting, With Nystagmus And Cataract
Chorea OMIM:601372
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Self-injurious behavior, Depression, Myoclonus, Anxiety, Chorea, A... ORPHA:485350
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Poor eye contact, Optic atrophy, Tremor, Spasticity, Aggressive behavior OMIM:300983
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Amyotrophic lateral sclerosis, Apathy, Babinski sign, Disinhibition, Spasticity... OMIM:612069
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Cognitive impairment, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticit... OMIM:615768
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Intention tremor, Dysdiadochokinesis, Babinski sign, Optic a... ORPHA:98890
Pleoconial Myopathy With Salt Craving
Salt craving, Paralysis OMIM:262900
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Ataxia, Inability to walk, Progressive neurologic deterioration, Chorea, Spast... ORPHA:70472
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus, Dementia ORPHA:308
Leigh Syndrome
Failure to thrive, Ataxia, Gliosis, Optic atrophy, Spasticity, Emotional lability, Dystonia OMIM:256000
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... ORPHA:363710
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea OMIM:614055
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Mental deterioration, Abnorma... OMIM:617225
Developmental And Epileptic Encephalopathy 78
Inability to walk, Poor eye contact, Cerebral palsy, Chorea, Spasticity OMIM:618557
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Paralysis OMIM:608634
Rabies
Depression, Cerebral palsy, Anxiety, Vocal cord paresis, Paresthesia ORPHA:770
Pelizaeus-Merzbacher Disease
Ataxia, Inability to walk, Mental deterioration, Optic atrophy, Tremor, Broad-based gait, Intenti... OMIM:312080
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, Basal ganglia gliosis, Fas... OMIM:607596
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Failure to thrive, Small for gestational age, Anxiety, Gait ataxia, Aggressive ... OMIM:609425
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment, Intentio... ORPHA:98762
Friedreich Ataxia
Gait imbalance, Inability to walk, Poor fine motor coordination, Dysmetria, Limb ataxia, Intentio... ORPHA:95
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Optic at... OMIM:270500
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology, Facial palsy, Vocal cord paralysis OMIM:607641
Developmental And Epileptic Encephalopathy 40
Poor eye contact, Small for gestational age, Myoclonus, Choreoathetosis, Spasticity, Spastic tetr... OMIM:617065
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Decreased sensory nerve conduction velocity, Mental deterioration, Decreased motor ne... OMIM:609260
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Depression, Dysdiadochok... OMIM:604326
Spinocerebellar Ataxia Type 28
Limb ataxia, Cognitive impairment, Depression, Babinski sign, Rigidity, Parkinsonism, Head tremor... ORPHA:101109
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apathy, Gliosis, Progressive language deterioration, Parkinsonism, Memory impairment, Polyphagia,... OMIM:607485
2P21 Microdeletion Syndrome
Hypocalcemia, Long eyelashes, Low-set, posteriorly rotated ears, Hypogonadism ORPHA:163693
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Myoclonus, Gliosis, Abnormality of extrapyramidal motor function, Distal sensory impairment OMIM:604218
Glutathionuria
Tremor OMIM:231950
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Cyanide-Induced Parkinsonism-Dystonia
Apathy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short steppe... ORPHA:306692
Cataract 11, Multiple Types
Hypertonia, Chorea OMIM:610623
Chorea, Benign Familial
Chorea OMIM:215450
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Decreased nerve conduction velocity, Progressive psychomotor deterioration, Abnormal ... ORPHA:309271
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis OMIM:606183
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Myoclonus, Rigidity, Tremor, So... ORPHA:98763
Tay-Sachs Disease
Gliosis, Inability to walk, Laryngeal dystonia, Optic atrophy, Tremor, Exaggerated startle respon... ORPHA:845
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Distal sensory impairment, Paralysis, Lethargy OMIM:613710
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia OMIM:618709
Dopa-Responsive Dystonia
Agoraphobia, Inability to walk, Abnormal social behavior, Tremor, Difficulty walking, Emotional l... ORPHA:255
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Ataxia, Episodic quadriplegia, Mental deterioration, Choreoathetosis, Dystonia, Tetra... OMIM:614820
Myopathy, Spheroid Body
Dysphagia, Tremor, Broad-based gait, Waddling gait OMIM:182920
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance, Optic atrophy OMIM:210000
Immunodeficiency 83, Susceptibility To Viral Infections
Mental deterioration, Gliosis, Hemiparesis, Lethargy OMIM:613002
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Apathy, Abnormal head movements, Irritability ORPHA:71518
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Inappropr... ORPHA:225147
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Sneddon Syndrome
Mental deterioration, Hemiparesis, Chorea, Memory impairment, Tremor, Dementia ORPHA:820
Ataxia-Telangiectasia-Like Disorder
Ataxia, Dysmetria, Intention tremor, Myoclonus, Dysdiadochokinesis, Chorea, Frequent falls, Gait ... ORPHA:251347
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Myoclonus, Truncal ataxia, Cogw... OMIM:607346
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Ataxia, Inability to walk, Poor eye contact, Decreased body weight, Pain insens... OMIM:300260
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Fasciculations OMIM:613728
Spinocerebellar Ataxia 42
Ataxia, Impaired vibration sensation at ankles, Cognitive impairment, Depression, Babinski sign, ... OMIM:616795
Huntington Disease-Like 3
Ataxia, Mental deterioration, Abnormal pyramidal sign, Chorea, Spasticity, Unsteady gait, Dystoni... OMIM:604802
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Pontocerebellar Hypoplasia, Type 2A
Gliosis, Extrapyramidal dyskinesia, Opisthotonus, Chorea, Optic atrophy, Dysphagia, Dystonia OMIM:277470
Neurodegeneration With Brain Iron Accumulation 2B
Hypertonia, Bradykinesia, Impulsivity, Dysmetria, Intention tremor, Mental deterioration, Dysdiad... OMIM:610217
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Paralysis, Oral-pharyngeal dysphagia OMIM:616286
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Progressive neurologic deterioration, Tremor, ... OMIM:233910
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Tremor, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Cognitive imp... OMIM:617284
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Gait disturbance, Tremor, Impaired pain sensation, Abnormal nerve conduction velocity ORPHA:101075
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Mental deterioration, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticit... OMIM:615924
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Paralysis OMIM:605285
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Hypertonia, Ataxia, Clumsiness, Decreased motor nerve conduction velocity, Babinski sign, Abnorma... OMIM:616688
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, Aggressive behavior OMIM:239500
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Poor eye contact, Babinski sign, Chorea, Choreoathetosis, Spasticity, Dystonia OMIM:618451
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Mental deterioration, Episodic hemiplegia, Choreoathetosis, Dystonia, Tetr... OMIM:104290
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Babinski sign, Spastic dysarthria, Difficulty walking, Progressive spastic para... ORPHA:280763
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Giant somatosensory evoked potentials, Tremor, Difficulty walking, Enhancement of the ... OMIM:613608
Spastic Paraplegia 50, Autosomal Recessive
Gliosis, Cerebral palsy, Babinski sign, Spastic paraplegia, Spastic tetraplegia OMIM:612936
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Fasciculations, ... ORPHA:65684
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Unsteady gait, D... ORPHA:210571
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Spastic paraparesis, Decreased motor nerve conduction velocity, Gait disturban... ORPHA:101077
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Ataxia, Gliosis, Failure to thrive, Myoclonus, Astrocytosis, Paralysis, Dementia OMIM:203700
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Mental deterioration, Babinski sign, Chorea, Gait di... OMIM:250100
Salt And Pepper Developmental Regression Syndrome
Failure to thrive, Myoclonus, Optic atrophy, Choreoathetosis, Irritability OMIM:609056
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Inability to walk by childhood/adolescence, Poor fine motor coordination, Hand tremor, Impaired v... ORPHA:99947
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis OMIM:105500
Xq28 (MECP2) duplication
Motor stereotypy, Failure to thrive, Inability to walk, Depression, Anxiety, Progressive spastici... DECIPHER:45
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Ataxia, Mental deterioration, Tremor, Difficulty walking, Emotional lability, Lower l... ORPHA:206443
Caribbean Parkinsonism
Action tremor, Bradykinesia, Abnormal autonomic nervous system physiology, Orthostatic hypotensio... ORPHA:97355
Smith-Magenis syndrome
Motor stereotypy, Self-mutilation DECIPHER:8
Paroxysmal Nonkinesigenic Dyskinesia 1
Torticollis, Dysphagia, Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:118800
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Myoclonus, Memory impairment, Tremor, Difficulty walking OMIM:614018
Pelizaeus-Merzbacher Disease, Connatal Form
Failure to thrive, Ataxia, Gliosis, Inability to walk, Titubation, Difficulty walking, Lower limb... ORPHA:280210
Neuronopathy, Distal Hereditary Motor, Type Iid
Fasciculations, Difficulty walking, Decreased motor nerve conduction velocity OMIM:615575
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hypoesthesia, Decreased motor nerve conduction velocity, Hand paresthesia, Froment sign, Vocal co... OMIM:162500
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Gliosis, Decreased nerve conduction velocity, Abnormal pyramidal sign, Optic atrophy, Spa... OMIM:256600
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Failure to thrive OMIM:618951
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Neuronal Intranuclear Inclusion Disease
Ataxia, Decreased sensory nerve conduction velocity, Cognitive impairment, Decreased motor nerve ... OMIM:603472
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Inappropriate crying, Hyperkinetic movements, Stereotypical hand wringin... ORPHA:397933
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Myoclonus, Hyperkinetic movements, Choreoathetosis, Dystonia OMIM:618497
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Impulsivity, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait OMIM:619028
Spinocerebellar Ataxia Type 27
Akinesia, Hand tremor, Limb ataxia, Depression, Truncal ataxia, Memory impairment, Gait disturban... ORPHA:98764
Intellectual Developmental Disorder, Autosomal Recessive 73
Impulsivity, Recurrent hand flapping, Poor coordination, Gait ataxia, Irritability OMIM:619717
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Decreased nerve conduction velocity, Gait disturbance, Tremor, Impaired pain sensation ORPHA:101078
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Neuromuscular dysphagia, Apathy, Axial dystonia, Progressive cerebellar ataxia,... ORPHA:227510
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Hypertonia, Gliosis, Opisthotonus, Small for gestational age, Cerebral palsy, Babinski sign, Myoc... OMIM:619847
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Orthostatic hypotension, Gait disturbance, Tremor OMIM:616710
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Rigidity, Spasticity, Fasciculations OMIM:183050
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Hypertonia, Failure to thrive, Dysmetria, Intention tremor, Abnormal pyramidal ... OMIM:617964
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Acute Peripheral Arterial Occlusion
Paresthesia, Impaired distal tactile sensation, Paralysis ORPHA:90064
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Ataxia, Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter ORPHA:228402
Supranuclear Palsy, Progressive, 2
Gait imbalance, Frontolimbic dementia, Akinesia, Gliosis, Bradykinesia, Axial dystonia, Apathy, R... OMIM:609454
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Apathy, Abnormal lower motor neuron morphology, Disinhibition, Dys... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Apathy, Abnormal lower motor neuron morphology, Disinhibition, Dys... OMIM:616437
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Abnor... ORPHA:309246
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Progressive langu... ORPHA:79264
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Resting tremor, Parkinsonism, Abnormal ... ORPHA:3077
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hearing impairment, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Cdkl5-Deficiency Disorder
Poor eye contact, Stereotypical hand wringing, Gait disturbance, Difficulty walking, Inappropriat... ORPHA:505652
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Self-injurious behavior, Anxiety, Speech apraxia, Aggressive behavior, Obesity,... OMIM:613670
Riboflavin Transporter Deficiency
Ataxia, Abnormal autonomic nervous system physiology, Cachexia, Myoclonus, Tremor, Optic disc pal... ORPHA:97229
Angelman Syndrome
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Recurrent hand flapping, Poor eye co... ORPHA:72
Developmental And Epileptic Encephalopathy 69
Inability to walk, Myoclonus, Hyperkinetic movements, Spastic tetraplegia, Dystonia OMIM:618285
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... OMIM:619279
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Depression, Ankle clonus, Babinski sign, Tetraparesis, Abnormal lo... OMIM:613954
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Fasciculations, Decreased motor nerve conduction velocity, Distal sensory impairment, Steppage gait OMIM:606595
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Difficulty walking, Truncal ataxia, Chorea ORPHA:369840
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity, Small for gestational age OMIM:278780
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Cognitive impairment, Depression, Dysdiadoc... OMIM:615157
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... ORPHA:521406
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Abnormal autonomic nervous system physiology, Rigidity, Parkin... OMIM:300894
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Inability to walk, Self-injurious behavior, Tremor, Spasticity, Paroxysmal burs... OMIM:618718
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Impai... OMIM:183090
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, Dystonia, Lethargy ORPHA:289916
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Tremor, G... OMIM:610245
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Failure to thrive, Spasticity, Irritability ORPHA:500545
Nasu-Hakola Disease
Chorea, Memory impairment, Frontal lobe dementia, Disinhibition, Spasticity, Oculomotor apraxia, ... ORPHA:2770
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Dystonia, Choreoathetosis, Spasticity, Irritability OMIM:614249
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Ab... ORPHA:352641
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Self-injurious behavior, Spastic tetraplegia OMIM:615282
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Ataxia, Gliosis, Failure to thrive OMIM:220111
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Steppage gait OMIM:618387
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus, Enhancement of the C-reflex OMIM:615127
Christianson Syndrome
Motor stereotypy, Conspicuously happy disposition, Cachexia, Truncal ataxia, Gait ataxia, Dysphag... ORPHA:85278
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... ORPHA:206594
Isaacs Syndrome
Fasciculations, Weight loss, Distal sensory impairment ORPHA:84142
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Happy demeanor, Poor eye contact, Optic atrophy, Difficulty walking, Gait ataxi... OMIM:617807
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... OMIM:617435
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor OMIM:618090
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Abnormal autonomic nervous system physiology, Depression, Rigidity,... OMIM:168600
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand tremor, Dysmetria, Tip-toe gait, Decreased motor nerve conduction velocity, Bab... OMIM:302800
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Mental deterioration, Cognitive impairment, Dysdiadochokinesis, A... OMIM:617145
X-Linked Creatine Transporter Deficiency
Hypertonia, Ataxia, Aganglionic megacolon, Self-mutilation, Cachexia, Chorea, Athetosis, Dystonia ORPHA:52503
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Facial diplegia, Failure to thrive, Inability to walk, Hyperkinetic movements, Athetosis, Spastic... OMIM:612073
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis