Gene Summary

Name:
zinc finger protein 60
Synonyms:
Mfg-3,  6330516O17Rik,  Mfg3

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
increased circulating alkaline phosphatase level Zfp60tm1b(KOMP)Mbp HOM   Early adult 4.00×10-05
hyperactivity Zfp60tm1b(KOMP)Mbp HOM Early adult 1.26×10-05
hyperactivity Zfp60tm1b(KOMP)Mbp HET Early adult 9.11×10-07
tremors Zfp60tm1b(KOMP)Mbp HOM Early adult 4.69×10-05
abnormal behavior Zfp60tm1b(KOMP)Mbp HOM Early adult 2.61×10-08
decreased thigmotaxis Zfp60tm1b(KOMP)Mbp HET Early adult 4.95×10-05
decreased thigmotaxis Zfp60tm1b(KOMP)Mbp HOM Early adult 2.61×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Vesicular gland 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
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.54% (3 of 556)
aorta 0.18% (1 of 553)
brain 0.73% (4 of 551)
brainstem 0.37% (2 of 543)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 538)
cerebellum 0.37% (2 of 539)
cerebral cortex 0.36% (2 of 550)
epididymis 13.82% (17 of 123)
esophagus 1.82% (7 of 384)
eye 0.0%
heart 0.36% (2 of 554)
hippocampus 0.56% (3 of 538)
hypothalamus 0.37% (2 of 544)
kidney 3.44% (19 of 553)
large intestine 1.77% (10 of 566)
liver 0.0%
lower urinary tract 0.18% (1 of 549)
lung 0.37% (2 of 546)
lymph node 0.18% (1 of 550)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.37% (2 of 545)
ovary 0.18% (1 of 545)
oviduct 0.0%
pancreas 0.89% (5 of 562)
peripheral nervous system 0.36% (2 of 548)
peyers patch 0.0%
pituitary gland 0.18% (1 of 547)
prostate gland 2.03% (11 of 543)
skeletal muscle 0.0%
skin 0.18% (1 of 550)
small intestine 1.64% (9 of 550)
spinal cord 0.55% (3 of 542)
spleen 0.54% (3 of 553)
stomach 2.01% (11 of 548)
striatum 0.56% (3 of 537)
submandibular gland 1.57% (2 of 127)
testis 0.92% (5 of 541)
thalamus 0.0%
thymus 0.18% (1 of 554)
thyroid gland 2.87% (16 of 558)
trachea 0.55% (3 of 544)
urinary bladder 0.0%
uterus 0.0%
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)
brain 1.26% (5 of 396)
dorsal root ganglion 2.13% (1 of 47)
ear 0.25% (1 of 401)
embryo 0.25% (1 of 402)
eye 0.25% (1 of 408)
footplate 0.0%
forebrain 0.0%
forelimb 0.25% (1 of 406)
fronto-nasal process 1.96% (1 of 51)
handplate 0.24% (1 of 413)
head 1.26% (5 of 397)
heart 0.0%
hindbrain 1.03% (4 of 388)
hindlimb 0.0%
liver 0.25% (1 of 402)
lung 0.25% (1 of 397)
mandibular process 0.25% (1 of 406)
maxillary process 0.25% (1 of 398)
midbrain 0.0%
nose 0.0%
oral cavity 0.24% (1 of 413)
skin 0.25% (1 of 406)
spinal cord 1.64% (1 of 61)
tail 0.26% (1 of 387)
tail somite group 0.25% (1 of 394)

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

40 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

12 Images

Human diseases caused by Zfp60 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 Zfp60 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Depression, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tr... OMIM:619491
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Motor tics, Attention deficit hyperactivity disorder OMIM:300830
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Elevated circulating creatine kinase concentration, Babinski sign, ... OMIM:160120
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Panic Disorder 1
Anxiety OMIM:167870
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Familial Alzheimer-Like Prion Disease
Emotional lability, Anxiety, Depression, Attention deficit hyperactivity disorder ORPHA:280397
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Self-mutilation, Motor tics, Attention deficit hyperactivity di... OMIM:137580
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Immunodeficiency 8
Hyperactivity OMIM:615401
Dystonia 11, Myoclonic
Anxiety, Agoraphobia, Torticollis, Depression, Writer's cramp, Myoclonus, Tremor OMIM:159900
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Anxiety, Inappropriate behavior, Ataxia, Upper motor neuron dysfunction, ... ORPHA:401901
Optic Atrophy 2
Babinski sign, Tremor, Dysdiadochokinesis OMIM:311050
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity, Aggressive behavior OMIM:615493
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Myoclonus-Dystonia Syndrome
Dystonia, Anxiety, Panic attack, Limb myoclonus, Personality disorder, Spinal myoclonus, Torticol... ORPHA:36899
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Babinski sign, Spastic tetraplegia, Irritability OMIM:616657
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Violent behavior, Focal dystonia, Oromandi... ORPHA:216873
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity, Aggressive behavior ORPHA:356996
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Tremor, Hereditary Essential, 6
Kinetic tremor, Head tremor, Vocal tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Postural tremor, Tongue tremor, Intention tremor OMIM:616736
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Aggressive behavior, Elevated circulating creatine... OMIM:612953
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Transient hyperphenylalaninemia, Hyperactivity, Ataxia, Aggressive beh... OMIM:612716
Brunner Syndrome
Kinetic tremor, Low frustration tolerance, Self-injurious behavior, Aggressive behavior, Impulsivity OMIM:300615
Huntington Disease-Like 2
Action tremor, Dystonia, Anxiety, Bradykinesia, Apathy, Irritability, Rigidity, Chorea, Depression OMIM:606438
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Hyperphenylalaninemia, Bh4-Deficient, D
Transient hyperphenylalaninemia, Tremor, Hyperphenylalaninemia, Hypertonia OMIM:264070
Dystonia 12
Parkinsonism, Dystonia, Anxiety, Bradykinesia, Emotional lability, Torticollis, Depression, Tremor OMIM:128235
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Hyperactivity, Ataxia, Spasticity, Hypertriglyce... OMIM:615924
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Emotional lability, Babinski sign, Depression, Abnormality of extrapyramidal motor functi... OMIM:615362
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Emotional lability, Tics, Separation insecur... ORPHA:66624
Glutathionuria
Tremor OMIM:231950
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Abnormality of extrapyramidal ... OMIM:614561
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Poor coordination, Aggressive behavior, Recurrent hand flapping, Stereotypical bod... OMIM:309548
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Resting tremor, Anxiety, Bradykinesia, Rigidity, Depression OMIM:605909
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Recurrent hand flapping, Stereotypical body rocking, Clumsine... ORPHA:100973
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia OMIM:238700
Migraine, Familial Hemiplegic, 1
Anxiety, Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Ataxia, Spasticity, Depression, Tremor OMIM:615889
Spinocerebellar Ataxia 12
Dysmetria, Parkinsonism, Action tremor, Axial dystonia, Anxiety, Head tremor, Progressive cerebel... OMIM:604326
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Ataxia, Depression, Myoclonus, Attention deficit hyperactivity disorder OMIM:619191
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Spinal Muscular Atrophy, Jokela Type
Elevated circulating creatine kinase concentration, Fasciculations, Tremor OMIM:615048
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Hyperphenylalaninemia, Irritability, Myoclonus, Hypertonia OMIM:261630
Alpha-Methylacyl-Coa Racemase Deficiency
Depression, Spasticity, Ataxia, Tremor OMIM:614307
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor OMIM:617018
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Irritability, Hyperglycinemia, Impulsivity, Myoclonus OMIM:605899
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Rapid-Onset Dystonia-Parkinsonism
Parkinsonism, Resting tremor, Anxiety, Bradykinesia, Craniofacial dystonia, Limb dystonia, Gait a... ORPHA:71517
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Anxiety, Bradykinesia, Lower limb spasticity, Attention deficit hyperactivity disorder OMIM:618878
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Spastic tetraparesis, Hyperactivity, Aggressive behavior, Hemiparesis, Impulsivity, Hypertonia OMIM:604317
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Ataxia, Tremor OMIM:611105
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Transient hyperphenylalaninemia, Bradykinesia, Cogwheel... OMIM:128230
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Spinocerebellar Ataxia Type 28
Kinetic tremor, Parkinsonism, Dystonia, Head tremor, Limb dystonia, Gait ataxia, Rigidity, Spasti... ORPHA:101109
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Anxiety, Dystonia, Myoclonus, Tremor OMIM:619651
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... ORPHA:101110
Spinocerebellar Ataxia 48
Dysmetria, Dystonia, Parkinsonism, Anxiety, Ataxia, Gait ataxia, Irritability, Chorea, Depression... OMIM:618093
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Blepharospasm, Anxiety, Bradykinesia, Leg dystonia, Rigidity, Postural tremor, Pa... OMIM:606324
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Postural tremor, Rigidity, Depression, Babinski sign, Parkinsonism with f... ORPHA:314632
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Decreased circulating ferritin concentration, Disinhibit... OMIM:606159
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Anxiety, Bradykinesia, Ataxia, Panic at... OMIM:619725
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... OMIM:607317
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Tremor OMIM:300660
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Abnormal aggressive, impulsive or violent behavior, Hyperactivity, ... ORPHA:3077
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:168100
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Chorea, Tremor ORPHA:494526
Spinocerebellar Ataxia 37
Frequent falls, Ataxia, Tremor OMIM:615945
Juvenile Huntington Disease
Dystonia, Hyperactivity, Bradykinesia, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Irrita... ORPHA:248111
Parkinsonism With Polyneuropathy
Resting tremor, Anxiety, Bradykinesia, Rigidity, Depression, Parkinsonism with favorable response... OMIM:619279
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Hyperphenylalaninemia, Irr... OMIM:261640
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Epilepsy, Progressive Myoclonic, 6
Elevated circulating creatine kinase concentration, Ataxia, Myoclonus, Tremor OMIM:614018
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Spasticity, Tremor OMIM:300983
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor OMIM:616187
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Parkinsonism, Dystonia, Oromandibular dystonia, Bradykinesia, Hypermanganesemia, Sc... ORPHA:521406
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Rigidity, Spasticity, Tremor OMIM:615528
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Action tremor, Dystonia, Parkinsonism, Anxiety, Ataxia, Aggressive behavior, Chorea, ... OMIM:619738
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Ataxia, Irritability, Tremor OMIM:612126
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Hyperactivity, Aggressive behavior, Tremor OMIM:619470
Phenylketonuria
Anxiety, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Irritability, Maternal hyperp... OMIM:261600
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Rigidity, Hyperactivity, Dysmetria, Tremor OMIM:618090
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Poor fine motor coordination, Attention deficit hyperactivity disorder OMIM:617182
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Dysmetria, Dystonia, Apraxia, Anxiety, Spastic paraparesis, Bradykinesia, Ataxia,... OMIM:615157
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:600116
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Aggressive behavior, Rigidity, Abnorma... OMIM:300894
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia, Lower limb spasticity... ORPHA:251282
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Bradykinesia, Apathy, Rigidity, Depression, Parkinsonism with favorable response to dop... ORPHA:240085
Primary Dystonia, Dyt2 Type
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... ORPHA:99657
Intellectual Developmental Disorder, Autosomal Dominant 43
Anxiety, Hyperactivity, Impulsivity OMIM:616977
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dystonia, Resting tremor, Anxiety, Limb hypertonia, Chorea OMIM:606703
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... OMIM:607671
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Action tremor, Parkinsonism, Intention tremor, Bradykinesia, Ataxia, Tre... ORPHA:98762
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Self-injurious behavior, Hyperactivity, Athetosis, Ataxia, Aggressive behavior, Progres... ORPHA:382
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Oromandibular dys... OMIM:613135
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Urocanase Deficiency
Ataxia, Aggressive behavior, Tremor OMIM:276880
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Myoclonus, Tremor OMIM:608105
Spinocerebellar Ataxia, Autosomal Recessive 16
Ankle clonus, Spasticity, Limb ataxia, Truncal ataxia, Babinski sign, Tremor OMIM:615768
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Tremor, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia, Ankl... OMIM:270500
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Lower limb spasticity, Ataxia, Impulsivity, Myoclonus, Tremor OMIM:619028
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Ataxia, Gait ataxia, Elevated circulating creatine kinase concentration, Tremor OMIM:618387
Developmental And Epileptic Encephalopathy 56
Action tremor, Anxiety, Ataxia, Poor coordination, Attention deficit hyperactivity disorder OMIM:617665
Lichtenstein-Knorr Syndrome
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Athetosis, Rigidity, Chorea, Dysdi... OMIM:213600
Corticobasal Syndrome
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Limb apraxia, Limb dystonia, Speech ... ORPHA:454887
Dopa-Responsive Dystonia
Parkinsonism, Dystonia, Generalized dystonia, Oculogyric crisis, Agoraphobia, Anxiety, Leg dyston... ORPHA:255
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Trisomy X
Attention deficit hyperactivity disorder, Depression, Anxiety, Tremor ORPHA:3375
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Tremor OMIM:616710
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Action tremor, Intention tremor, Spastic dysarthria, Nonprogressive cerebellar at... ORPHA:314978
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Motor stereotypy, Hyperactivity, Spasticity, Chorea, Depression, Impulsivity ORPHA:88616
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Spinocerebellar Ataxia 18
Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Saccharopinuria
Hyperlysinemia, Abnormality of circulating enzyme level, Spastic diplegia, Elevated plasma citrul... ORPHA:3124
Dystonia 26, Myoclonic
Dystonia, Blepharospasm, Anxiety, Laryngeal dystonia, Torticollis, Depression, Myoclonus OMIM:616398
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Resting tremor, Bradykinesia, Apathy, Rigidity ORPHA:306692
Myopathy, Spheroid Body
Elevated circulating creatine kinase concentration, Tremor OMIM:182920
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Choreoathetosis, Limb hypertonia, Hyperphenylalaninemia, Irritability, Rigidity, Hyperk... OMIM:233910
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... ORPHA:240103
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Ataxia, Tremor OMIM:616421
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Rigidity, Tremor OMIM:614203
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Tremor OMIM:619561
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated circulating gamma-aminobutyric acid concentration, Self-injurious behavior, Hyperactivit... OMIM:271980
Landau-Kleffner Syndrome
Frequent falls, Anxiety, Hyperactivity, Aggressive behavior, Speech apraxia, Gait ataxia, Emotion... ORPHA:98818
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Anxiety, Hyperactivity, Aggressive behavior OMIM:609425
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Limb dystonia, Vocal tremor, Torticollis, Upper limb postural tremor,... ORPHA:420485
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Fasciculations, Tongue fasciculations, Tremor ORPHA:276435
Lennox-Gastaut Syndrome
Hyperactivity, Personality disorder, Myoclonus, Aggressive behavior ORPHA:2382
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, ... OMIM:619405
Perry Syndrome
Parkinsonism, Apathy, Depression, Abnormality of extrapyramidal motor function, Tremor ORPHA:178509
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Dysdiadochokinesis, Limb dysmetria, Truncal ataxia, Myoclonus, Tremor ORPHA:363710
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Dystonia, Bradykinesia, Hemiparesis, Depression, Tremor ORPHA:306669
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Abnormal pyramidal sign, Dystonia, Hyperactivity, Limb hypertonia, Aggressive behavior, Gait atax... ORPHA:500180
Atypical Rett Syndrome
Dystonia, Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involuntary movements, Inapp... ORPHA:3095
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Parkinsonism, Oculogyric crisis, Abnormal circulating neopterin concentration, Cerebr... ORPHA:1578
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Spastic dysarthria, Anxiety, Bradykinesia, Progressive cerebellar ataxia... ORPHA:282166
Spinocerebellar Ataxia 23
Dysmetria, Gait ataxia, Limb ataxia, Babinski sign, Tremor OMIM:610245
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Lower limb spasticity, Spastic paraplegia, Clonus, Babinski sign, Tremor OMIM:600363
Spinocerebellar Ataxia, Autosomal Recessive 17
Truncal ataxia, Dysmetria, Tremor OMIM:616127
Hypermanganesemia With Dystonia 2
Parkinsonism, Opisthotonus, Dystonia, Generalized dystonia, Oromandibular dystonia, Bradykinesia,... OMIM:617013
Classic Phenylketonuria
Self-injurious behavior, Tremor, Hyperphenylalaninemia, Paraplegia, Hemiplegia, Attention deficit... ORPHA:79254
Spinocerebellar Ataxia Type 14
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Limb ataxia, Myoclonus, Tremor ORPHA:98763
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Aggressive behavior, Rigidity, Tremor ORPHA:329284
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity, Spasticity, Tremor OMIM:618718
Perry Syndrome
Suicidal ideation, Parkinsonism, Dystonia, Disinhibition, Anxiety, Bradykinesia, Inappropriate be... OMIM:168605
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Ataxia, Tremor OMIM:617917
Urocanic Aciduria
Action tremor, Ataxia, Gait ataxia, Abnormal circulating histidine concentration, Truncal ataxia ORPHA:210128
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Ataxia, Gait ataxia, Spasticity, Limb ataxia, Tremor OMIM:213200
Behr Syndrome
Dysmetria, Ataxia, Progressive spasticity, Babinski sign, Tremor OMIM:210000
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Spasticity, Depression OMIM:619467
Cln5 Disease
Dysmetria, Anxiety, Hyperactivity, Poor gross motor coordination, Ataxia, Aggressive behavior, Sp... ORPHA:228360
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Ataxia, Tremor OMIM:617862
Spinocerebellar Ataxia 7
Dysmetria, Progressive cerebellar ataxia, Spasticity, Chorea, Babinski sign, Abnormality of extra... OMIM:164500
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Resting tremor, Involuntary movements, Mildly elevated creatine kinase, Ataxia, Progres... ORPHA:401768
Gerstmann-Straussler Disease
Parkinsonism, Apraxia, Bradykinesia, Aggressive behavior, Gait ataxia, Truncal ataxia, Emotional ... OMIM:137440
Aicardi-Goutieres Syndrome 6
Rigidity, Dystonia, Tremor OMIM:615010
Atypical Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Focal dystonia, Extrapyramidal muscular rigidity, Blepharo... ORPHA:99750
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Tremor ORPHA:79234
Dystonia 7, Torsion
Torsion dystonia, Hand tremor, Blepharospasm, Torticollis, Clumsiness, Writer's cramp, Oromandibu... OMIM:602124
Spinocerebellar Ataxia Type 27
Hand tremor, Aggressive behavior, Gait ataxia, Limb ataxia, Truncal ataxia, Depression, Tremor ORPHA:98764
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Gand Syndrome
Tics, Hyperactivity, Inappropriate laughter OMIM:615074
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:301013
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Parkinsonism, Dystonia, Oculogyric crisis, Gait ataxia, Depression, Tremor OMIM:618049
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Hyperactivity, Anxiety, Lower limb spasticity, Aggressive behavior, Prog... ORPHA:485350
Multiple System Atrophy, Parkinsonian Type
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Axial dystonia, Anxiety, B... ORPHA:98933
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Spinocerebellar Ataxia, X-Linked 4
Abnormal pyramidal sign, Ataxia, Tremor OMIM:301840
Early-Onset Schizophrenia
Suicidal ideation, Unhappy demeanor, Anxiety, Anhedonia, Impairment in personality functioning, E... ORPHA:96369
Neurodegeneration With Brain Iron Accumulation 4
Parkinsonism, Dystonia, Oromandibular dystonia, Ataxia, Elevated circulating creatine kinase conc... OMIM:614298
Autosomal Spastic Paraplegia Type 58
Abnormal pyramidal sign, Frequent falls, Dysmetria, Intention tremor, Fasciculations, Gait ataxia... ORPHA:397946
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Ataxia, Myoclonus, Tremor OMIM:612016
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Tremor OMIM:619099
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Hypertonia, Blepharospasm, Torticollis, Depression, Writer's cramp, Tremor OMIM:128100
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Spastic gait, Ataxia, Depression, Babinski sign, Spastic ataxia, Tremor OMIM:616795
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Dystonia, Ataxia, Gait ataxia, Limb ataxia, Dysdiadochokinesi... OMIM:617145
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Fasciculations, Tremor OMIM:313200
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Hyperactivity, Ataxia, Limb dystonia, Gait ataxia, Poor mo... ORPHA:363400
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bradykinesia, Ataxia, Rigidity, Tremor OMIM:617836
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Dystonia, Bradykinesia, Spastic paraplegia, Ataxia, Aggressive behavior... OMIM:606693
Hypermanganesemia With Dystonia 1
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Unconjugated hyperbilirubinemia, Hyper... OMIM:613280
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Self-mutilation, Aggressive behavior, Recurrent hand flapping OMIM:615516
Aceruloplasminemia
Increased circulating ferritin concentration, Parkinsonism, Dystonia, Decreased serum iron, Bleph... ORPHA:48818
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Hand tremor, Resting tremor, Focal dystonia, Blepharospasm, Bra... ORPHA:53351
Leukodystrophy, Hypomyelinating, 6
Dystonia, Choreoathetosis, Ataxia, Rigidity, Spasticity, Tremor OMIM:612438
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Abnormal pyramidal sign, Dystonia, Choreoathetosis, Hypercholesterole... ORPHA:64753
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Babinski sign, Spasticity, Aggressive behavior OMIM:617773
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Blepharospasm, Torticollis, Tremor OMIM:224500
Late-Infantile/Juvenile Krabbe Disease
Frequent falls, Spastic diplegia, Spastic paraparesis, Lower limb spasticity, Ataxia, Emotional l... ORPHA:206443
Fragile X Tremor/Ataxia Syndrome
Dysmetria, Action tremor, Resting tremor, Parkinsonism, Intention tremor, Disinhibition, Anxiety,... OMIM:300623
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Impulsivity, Aggressive behavior ORPHA:101039
Lopes-Maciel-Rodan Syndrome
Abnormal pyramidal sign, Hypertonia, Dystonia, Bradykinesia, Tremor, Spasticity, Ankle clonus OMIM:617435
Myopathy With Extrapyramidal Signs
Frequent falls, Dystonia, Choreoathetosis, Hyperlysinemia, Extremely elevated creatine kinase, Hy... OMIM:615673
Adult-Onset Cervical Dystonia, Dyt23 Type
Focal dystonia, Axial dystonia, Head tremor, Craniofacial dystonia, Panic attack, Limb tremor, To... ORPHA:420492
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Multiple System Atrophy, Cerebellar Type
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Axial dystonia, Anxiety, B... ORPHA:227510
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Elevated circulating creatine kinase concentration, Limb fasciculations, Tremor ORPHA:90117
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Ataxia, Gait ataxia, Spasticity, Tremor OMIM:616719
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor OMIM:618587
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia, Myoclonus, Tremor ORPHA:139485
Neurodegeneration With Brain Iron Accumulation 2B
Dysmetria, Dystonia, Intention tremor, Hyperactivity, Bradykinesia, Gait ataxia, Emotional labili... OMIM:610217
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Dystonia, Resting tremor, Parkinsonism, Choreoathetosis, Apraxia, Spastic tetrapleg... OMIM:300055
Neuroferritinopathy
Parkinsonism, Dystonia, Resting tremor, Focal dystonia, Decreased circulating ferritin concentrat... ORPHA:157846
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Choreoathetosis, Hypercholesterolemia, Oculomotor apraxia, Ataxia, Gait ataxia, Truncal... OMIM:208920
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Tremor OMIM:613608
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Ataxia, Tremor OMIM:278780
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Spasticity, Scissor gait, B... ORPHA:363654
Cystathioninuria
Cystathioninemia, Tremor ORPHA:212
Dystonia 24
Torticollis, Blepharospasm, Head tremor, Oromandibular dystonia OMIM:615034
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
Infantile Neuronal Ceroid Lipofuscinosis
Dysmetria, Dystonia, Myoclonic spasms, Ataxia, Spasticity, Chorea, Clumsiness, Poor fine motor co... ORPHA:79263
Brain Dopamine-Serotonin Vesicular Transport Disease
Spastic tetraparesis, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Inappropriate crying... ORPHA:352649
X-Linked Creatine Transporter Deficiency
Dystonia, Abnormal circulating creatine concentration, Hyperactivity, Athetosis, Ataxia, Self-mut... ORPHA:52503
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Lower limb spasticity, Spastic paraplegia, Clonus, Babinski sign, Neonatal hyperbi... OMIM:609727
Neuroectodermal Melanolysosomal Disease
Tremor, Ataxia, Rigidity, Spasticity, Hypertonia ORPHA:33445
Adult-Onset Dystonia-Parkinsonism
Dystonia, Focal dystonia, Bradykinesia, Rigidity, Spasticity, Progressive extrapyramidal movement... ORPHA:199351
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Tetraplegia, Hypertonia OMIM:274270
Familial Dyskinesia And Facial Myokymia
Dystonia, Resting tremor, Limb hypertonia, Chorea, Myoclonus ORPHA:324588
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Disinhibition, Hyperactivity, Aggressive behavior, Paraparesis, Hemipa... ORPHA:43
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Tetraparesis, Abnormal pyramidal sign, Action tremor, Opisthotonus, Dystonia, Frequent falls, Cra... OMIM:607483
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Fasciculations, Tongue fasciculations, Myoclonus, Tremor OMIM:159950
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hemiballismus, Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Gait ataxia, Ri... OMIM:618877
Parkinson-Dementia Syndrome
Rigidity, Abnormal pyramidal sign, Parkinsonism, Tremor OMIM:260540
Spinocerebellar Ataxia 15
Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Happy demeanor, Ataxia, Inappropriate laughter ORPHA:411515
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Adult-Onset Distal Myopathy Due To Vcp Mutation
Frequent falls, Parkinsonism, Anxiety, Fasciculations, Mildly elevated creatine kinase, Depressio... ORPHA:329478
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Tics, Hyperactivity, Hypertonia OMIM:617865
Hsd10 Disease
Choreoathetosis, Spastic paraparesis, Ataxia, Rigidity, Myoclonus, Tremor ORPHA:391417
Leukodystrophy, Hypomyelinating, 11
Spasticity, Ataxia, Myoclonus, Tremor OMIM:616494
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, Abnormality of extrapyramida... ORPHA:99
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Tremor OMIM:618637
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Borderline personality disorder, Ataxi... OMIM:618060
Autism Spectrum Disorder Due To Auts2 Deficiency
Repetitive compulsive behavior, Motor stereotypy, Hyperactivity, Cerebral palsy, Spasticity, Atte... ORPHA:352490
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Dysmetria, Ataxia, Gait ataxia, Dysdiadochokinesis, Tremor OMIM:614831
Optic Atrophy 11
Ataxia, Hyperactivity, Dysmetria, Hyperkinetic movements OMIM:617302
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Ataxia, Tremor OMIM:617831
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Frequent falls, Limb myoclonus, Clumsiness, Myoclonus, Tremor ORPHA:2590
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Tremor ORPHA:101075
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Generalized dystonia, Intention tremor, Spast... OMIM:312080
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Clumsiness, Hyperactivity, Aggressive behavior OMIM:300558
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hypokalemia, Hypomagnesemia, Hyperactivity OMIM:618314
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Choreoathetosis, Ataxia, Self-mutilation, Tremor OMIM:619422
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Limb hypertonia, Ataxia, Rigidity, Spasticity, Abnormality of coordination... ORPHA:442835
Rasmussen Subacute Encephalitis
Involuntary movements, Hyperactivity, Hemidystonia, Emotional lability, Irritability, Hemiparesis... ORPHA:1929
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Anxiety, Self-mutilation, Depression, Upper limb spasticity, Hyperkinetic movem... ORPHA:457240
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Spasticity, Aggressive behavior ORPHA:457260
Parkinson Disease 21
Rigidity, Parkinsonism, Bradykinesia, Tremor OMIM:616361
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Anxiety, Bradykinesia, Ataxia, Poor fine motor coordination, Tremor ORPHA:36387
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Spasticity, Aggressive behavior OMIM:615286
Classic Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Dystonia, Axial dystonia, Blepharospasm, Bradykinesia, Slo... ORPHA:240071
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Abnormal pyramidal sign, Tetraplegia, Hyperactivity, Aggressive behavior ORPHA:369939
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Oculogyric crisis, Bradykinesia, Limb hypertonia, Cerebral palsy, Rigidity, Tremor ORPHA:70594
Mohr-Tranebjaerg Syndrome
Abnormal pyramidal sign, Dystonia, Focal dystonia, Generalized dystonia, Apraxia, Oromandibular d... ORPHA:52368
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Peroxisome Biogenesis Disorder 5B
Dysmetria, Ataxia, Oculomotor apraxia, Elevated levels of phytanic acid, Tremor OMIM:614867
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Motor stereotypy, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Recurrent... ORPHA:449291
Intellectual Developmental Disorder, Autosomal Dominant 7
Incoordination, Happy demeanor, Stereotypical hand wringing, Hyperactivity, Ataxia, Inappropriate... OMIM:614104
Oculopharyngodistal Myopathy 3
Elevated circulating creatine kinase concentration, Ataxia, Tremor OMIM:619473
Young-Onset Parkinson Disease
Dystonia, Anxiety, Bradykinesia, Panic attack, Apathy, Rigidity, Spasticity, Depression, Impulsiv... ORPHA:2828
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dysmetria, Ataxia, Gait ataxia, Poor motor coordination, Spasticity, Oculomotor apraxia, Tremor ORPHA:1170
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Tremor ORPHA:101078
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Truncal ataxia, Dysmetria, Dysdiadochokinesis, Tremor OMIM:610185
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Attention deficit hyperactivity disorder, Hypertonia, Ataxia, Tremor OMIM:619556
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Apraxia, Gait ataxia, Spasticity, Tremor OMIM:617810
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Dentatorubral Pallidoluysian Atrophy
Dysmetria, Action tremor, Choreoathetosis, Blepharospasm, Involuntary movements, Ataxia, Progress... ORPHA:101
Fragile X Syndrome
Self-biting, Hyperactivity, Recurrent hand flapping OMIM:300624
Spinocerebellar Ataxia Type 21
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Abnormality of extrapyramidal motor functio... ORPHA:98773
Parkinson Disease, Late-Onset
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Rigidity, Depression, Tremor OMIM:168600
Proximal 16P11.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Bipolar affective disorder, Anxiety, Tremor ORPHA:370079
4H Leukodystrophy
Dysmetria, Dystonia, Ataxia, Upper motor neuron dysfunction, Progressive gait ataxia, Dysdiadocho... ORPHA:289494
Adenylosuccinase Deficiency
Happy demeanor, Opisthotonus, Hyperactivity, Aggressive behavior, Inappropriate laughter, Gait at... OMIM:103050
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysmetria, Dystonia, Hypertonia, Ataxia, Dysdiadochokinesis, Hemiplegia/... ORPHA:96
Marbach-Schaaf Neurodevelopmental Syndrome
Happy demeanor, Aggressive behavior, Hemidystonia, Speech apraxia, Recurrent hand flapping, Atten... OMIM:619680
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hyperactivity, Elevated plasma citrulline,... ORPHA:247585
Spinocerebellar Ataxia 8
Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity, Tremor OMIM:608768
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Resting tremor, Bradykinesia OMIM:614251
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Motor stereotypy, Self-injurious behavior, Hyperactivity, Ataxia ORPHA:228402
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Aggressive behavior, Motor stereotypy ORPHA:391307
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Frequent falls, Dysmetria, Hand tremor, Paraparesis, Babinski sign, Tremor OMIM:302800
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Ataxia, Tremor ORPHA:99014
Myoclonic-Astatic Epilepsy
Abnormal pyramidal sign, Hyperactivity, Tremor, Ataxia, Abnormal emotion/affect behavior, Attenti... ORPHA:1942
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Hyperactivity, Aggressive behavior, Gait ataxia, Tremor OMIM:300354
Neurodegeneration With Brain Iron Accumulation 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Hyperactivity, B... OMIM:234200
Purine Nucleoside Phosphorylase Deficiency
Spastic paraparesis, Hyperactivity, Ataxia, Cerebral palsy, Hypouricemia, Spasticity, Abnormal ce... ORPHA:760
Myopathy, Mitochondrial, And Ataxia
Dysmetria, Anxiety, Ataxia, Elevated circulating creatine kinase concentration, Truncal ataxia, D... OMIM:617675
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tetraplegia, Spasticity, Babinski sign, Tremor OMIM:616586
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Low frustration tolerance, Motor stereotypy, Anxiety, Hyperactivity, Ataxia, ... ORPHA:168491
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Ataxia, Gait ataxia, Myoclonus, Hypertonia OMIM:619092
Sneddon Syndrome
Chorea, Hemiparesis, Tremor ORPHA:820
Progressive Supranuclear Palsy
Dystonia, Blepharospasm, Bradykinesia, Rigidity, Depression, Impulsivity, Tremor ORPHA:683
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Spasticity, Ataxia, Aggressive behavior OMIM:610042
Infantile Neuroaxonal Dystrophy
Abnormal pyramidal sign, Spastic tetraparesis, Dystonia, Hyperactivity, Ataxia, Emotional labilit... ORPHA:35069
Developmental And Epileptic Encephalopathy 42
Hypertonia, Athetosis, Ataxia, Tremor OMIM:617106
Choreoacanthocytosis
Phonic tics, Aggressive behavior, Apathy, Hair-pulling, Depression, Hyperkinetic movements, Socia... ORPHA:2388
Cntnap2-Related Developmental And Epileptic Encephalopathy
Low frustration tolerance, Stereotypical hand wringing, Hyperactivity, Lower limb spasticity, Ata... ORPHA:163681
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Progressive cerebellar ataxia, Upper motor neuron dysfunction, Progressive spasticity... ORPHA:137898
Intellectual Developmental Disorder, X-Linked 12
Anxiety, Spasticity, Depression, Hyperkinetic movements, Tremor OMIM:300957
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Hyperactivity, Ataxia, Recurrent hand flapping, Tongue thrusting, Inappropriate l... ORPHA:98794
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated alpha-fetoprotein, Abnormal pyramidal sign, Dystonia, Head tremor, Oculomotor apraxia, G... OMIM:606002
Argininemia
Frequent falls, Spastic gait, Spastic paraparesis, Hyperactivity, Irritability, Hyperargininemia,... OMIM:207800
Tonne-Kalscheuer Syndrome
Self-injurious behavior, Anxiety, Aggressive behavior, Spasticity, Tremor OMIM:300978
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Spasticity, Aggressive behavior OMIM:300958
Tay-Sachs Disease
Incoordination, Dysmetria, Dystonia, Frequent falls, Decerebrate rigidity, Increased serum beta-h... ORPHA:845
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Abnormal pyramidal sign, Dysmetria, Dystonia, Intention tremor, Ataxia, Gait ataxia, Spasticity, ... OMIM:614381
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Dysmetria, Intention tremor, Ataxia, Gait ataxia, Babinski sign, Myoclonus, Tremor OMIM:616505
Mohr-Tranebjaerg Syndrome
Spasticity, Dystonia, Tremor OMIM:304700
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Ataxia, Bipolar affective disorder, Depression, Hypertonia OMIM:601853
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Spastic paraplegia, Tremor ORPHA:477673
Congenital Bile Acid Synthesis Defect Type 4
Elevated circulating creatine kinase concentration, Depression, Ataxia, Tremor ORPHA:79095
Inverted Duplicated Chromosome 15 Syndrome
Self-biting, Hyperactivity, Aggressive behavior, Motor stereotypy ORPHA:3306
Parkinson Disease 1, Autosomal Dominant
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Rigidity, Depression, Myoclonus OMIM:168601
Pyruvate Dehydrogenase Deficiency
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Ataxia, Cerebral palsy, Spasticity, Tremor ORPHA:765
Tetanus
Opisthotonus, Spasticity of pharyngeal muscles, Tremor, Elevated circulating creatine kinase conc... ORPHA:3299
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Hyperactivity, Ataxia, Poor coordination, Aggressive behavior, Spasticity OMIM:618430
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, Gait ataxia, Spasticity, Oculomotor apraxia, Tremor ORPHA:529665
Histidinemia
Hyperactivity ORPHA:2157
Congenital Disorder Of Glycosylation, Type Ij
Hypertonia, Hypoproteinemia, Aggressive behavior, Tremor OMIM:608093
Parkinson Disease 8, Autosomal Dominant
Parkinsonism, Resting tremor, Bradykinesia, Rigidity, Parkinsonism with favorable response to dop... OMIM:607060
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Ataxia, Myoclonus, Tremor OMIM:607876
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Low frustration tolerance, Hyperactivity, Lower limb spasticity, Inappropriate laughter, Tics, Se... ORPHA:363686
Lamb-Shaffer Syndrome
Upper motor neuron dysfunction, Hyperactivity, Ataxia, Motor stereotypy ORPHA:530983
Combined Oxidative Phosphorylation Deficiency 18
Dysmetria, Tremor OMIM:615578
X-Linked Cerebral Adrenoleukodystrophy
Spastic tetraparesis, Dysmetria, Abnormal circulating fatty-acid concentration, Apraxia, Hyperact... ORPHA:139396
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:600430
Parkinson Disease 20, Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Eyelid apraxia, Tremor OMIM:615530
Non-Functioning Paraganglioma
Vocal cord paralysis, Panic attack, Hypercalcemia, Tremor ORPHA:94080
Serotonin Syndrome
Anxiety, Tremor, Irritability, Rigidity, Clonus, Myoclonus, Hypertonia ORPHA:43116
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Dysmetria, Anxiety, Mildly elevated creatine kinase, Progressive cerebellar ataxia, Dysdiadochoki... ORPHA:502423
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Rigidity, Spasticity, Tremor, Hypertonia OMIM:176500
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mildly elevated creatine kinase, Tremor ORPHA:397744
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Hyperactivity, Anxiety, Ataxia, Aggressive behavior, Rec... ORPHA:72
Adult-Onset Autosomal Dominant Leukodystrophy
Tetraparesis, Abnormal pyramidal sign, Dysmetria, Action tremor, Spastic gait, Hypertonia, Intent... ORPHA:99027
16P12.1P12.3 Triplication Syndrome
Nail-biting, Anxiety, Hyperactivity, Skin-picking, Attention deficit hyperactivity disorder ORPHA:485405
Acrodermatitis Enteropathica, Zinc-Deficiency Type