Gene Summary

Name:
tribbles pseudokinase 2
Synonyms:
TRB2

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retinal outer nuclear layer morphology Trib2tm1b(KOMP)Wtsi HOM   Early adult 2.61×10-10
hyperactivity Trib2tm1b(KOMP)Wtsi HOM   Early adult 4.58×10-05
abnormal retinal inner nuclear layer morphology Trib2tm1b(KOMP)Wtsi HET Early adult 8.06×10-09
decreased vertical activity Trib2tm1b(KOMP)Wtsi HOM   Early adult 1.14×10-05
preweaning lethality, incomplete penetrance Trib2tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal retinal inner nuclear layer morphology Trib2tm1b(KOMP)Wtsi HOM   Early adult 5.75×10-28
decreased total retina thickness Trib2tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased total retina thickness Trib2tm1b(KOMP)Wtsi HET Early adult 2.80×10-09

Download data as:  TSV  XLS

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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  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote Ambiguous
Mammary gland  Wholemount images heterozygote Not available
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skeletal muscle  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Trigeminal V nerve  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote Not available
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote Ambiguous
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 100% (2 of 2)
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Cranium N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Inner ear N/A heterozygote 100% (2 of 2)
Intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of female N/A heterozygote 50% (1 of 2)
Mesonephros of male N/A heterozygote 50% (1 of 2)
Metanephros N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Notochord N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Outflow tract N/A heterozygote 100% (2 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
Pharynx N/A heterozygote 100% (2 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote 100% (2 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)
Vibrissa N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.67% (14 of 381)
vascular system 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)
atrium 1.69% (1 of 59)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
cranium 1.59% (1 of 63)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
external ear 1.37% (1 of 73)
eye 0.2% (1 of 507)
femur pre-cartilage condensation 1.85% (1 of 54)
footplate 0.2% (1 of 507)
forearm 0.33% (1 of 304)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
head mesenchyme 1.69% (1 of 59)
heart 0.2% (1 of 507)
heart ventricle 1.69% (1 of 59)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
humerus pre-cartilage condensation 1.59% (1 of 63)
inner ear 1.59% (1 of 63)
intestine 1.75% (1 of 57)
liver 0.2% (1 of 502)
lower leg 0.33% (1 of 304)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
mesonephros of female 1.85% (1 of 54)
mesonephros of male 1.85% (1 of 54)
metanephros 1.85% (1 of 54)
midbrain 0.2% (1 of 507)
nasal septum 1.69% (1 of 59)
nose 1.3% (1 of 77)
notochord 1.69% (1 of 59)
oral cavity 0.2% (1 of 502)
outflow tract 1.69% (1 of 59)
pancreas 1.85% (1 of 54)
pericardium 1.85% (1 of 54)
pharynx 1.82% (1 of 55)
radius-ulna pre cartilage condensation 1.59% (1 of 63)
rib pre-cartilage condensation 1.79% (1 of 56)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
stomach 1.85% (1 of 54)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
thoracic vertebral cartilage condensation 1.85% (1 of 54)
tongue 1.85% (1 of 54)
trachea 1.72% (1 of 58)
trunk mesenchyme 1.69% (1 of 59)
umbilical artery embryonic part 1.69% (1 of 59)
umbilical vein embryonic part 1.69% (1 of 59)
upper arm 0.33% (1 of 304)
upper leg 0.33% (1 of 304)
urinary system 1.72% (1 of 58)
vibrissa 1.37% (1 of 73)

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 Wholemount

26 Images

Eye Morphology

VIP of left eye

20 Images

Eye Morphology

VIP of right fundus

20 Images

Eye Morphology

VIP of right eye

20 Images

Eye Morphology

VIP of left fundus

20 Images

Embryo LacZ

LacZ images wholemount

4 Images

Human diseases caused by Trib2 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 Trib2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis, Dystonia, Hypertonia, Tetraparesis, Rigidity, Spasticity, At... ORPHA:225154
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Mental Retardation, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Immunodeficiency 40
Lymphopenia OMIM:616433
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Gliosis, Dysphagia, Cerebral atrophy, Torticollis, Frequent falls, Spasticity OMIM:618369
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Gliosis, Chorea, Limb ataxia, Dysphagia, A... OMIM:607136
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Abnormality of extrapyramidal motor function, Cerebral atrophy, Abnormal p... ORPHA:204
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Tremor, Focal T2 hyperintense basal ganglia lesion, Gait ataxia, Clumsiness, Diffus... ORPHA:282166
Immunodeficiency 8
Hyperactivity OMIM:615401
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Gliosis, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Shor... OMIM:213200
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Hemiparesis, Cortical dysplasia, Focal cortical dysplasia type II, Hemimegalencepha... OMIM:607341
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Dystonia, Gait disturbance, Cerebral cortical atrophy, Myoclonus, Stereotypy, Babin... OMIM:600795
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Gliosis, Incoordination, Abnormal posturing, Chorea, Gait disturbance, P... ORPHA:157941
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Gait disturbance, Abnormal cerebral white matter morphology, Leukoenc... OMIM:300660
Progressive Non-Fluent Aphasia
Astrocytosis, Apraxia, Temporal cortical atrophy, Abnormality of extrapyramidal motor function, A... ORPHA:100070
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Abnormality of extrapyramidal motor function, Gait disturbance, Abnormal cerebral w... ORPHA:275864
Progressive Supranuclear Palsy
Tremor, Dystonia, Gliosis, Dysphagia, Blepharospasm, Bradykinesia, Cerebral cortical atrophy, Uns... ORPHA:683
Developmental And Epileptic Encephalopathy 14
Gliosis, Clonus, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Tetraplegia, Micro... OMIM:614959
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Frontotemporal Dementia With Motor Neuron Disease
Apraxia, Gliosis, Abnormality of extrapyramidal motor function, Paraparesis, Dysphagia, Neuronal ... ORPHA:275872
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Apraxia, Gliosis, Abnormal cerebral white matter morphology, Bradykinesia, Leukoencephalopathy, R... OMIM:221820
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Leukoencephalopathy, Spasticity OMIM:611105
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Gait disturbance, Degeneration of anterior horn cells, Distal sensory impairment, Tetrap... OMIM:604484
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Intellectual Developmental Disorder, X-Linked 12
Tremor, Gliosis, Abnormal cerebral white matter morphology, Gait disturbance, Hyperkinetic moveme... OMIM:300957
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Dystonia, ... ORPHA:79243
Hemimegalencephaly
Pachygyria, Gliosis, Hemiparesis, Polymicrogyria, Hyperintensity of cerebral white matter on MRI,... ORPHA:99802
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Dystonia, Apraxia, Ataxia, Progressive leukoencephalopathy, Periventricular leukomalacia,... OMIM:615889
Huntington Disease
Gait ataxia, Gliosis, Chorea, Bradykinesia, Rigidity OMIM:143100
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Eye of the tiger anomaly of globus pallidus, Abnormal posturing, Dysphagia, Ga... ORPHA:216866
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Gliosis, Difficulty walking, Ataxia, Lower limb spasticity, Macrogyria, Tituba... ORPHA:280210
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Gliosis, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Abnormal... OMIM:221770
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Cerebral atrophy, Bradykinesia, Parkinsonism, Substantia nigr... OMIM:600116
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Astrocytosis, Inability to walk, Difficulty walking, Megalencephaly OMIM:611087
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Pontocerebellar Hypoplasia, Type 4
Gliosis, Hypertonia, Myoclonus, Microcephaly, Spasticity OMIM:225753
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Spinocerebellar Ataxia 37
Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy, Hemiparesis, Gliosis OMIM:613002
Spastic Paraplegia 50, Autosomal Recessive
Spastic paraplegia, Gliosis, Hypoplasia of the corpus callosum, Spastic tetraplegia, Babinski sig... OMIM:612936
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gliosis, Dysphagia, Gait disturbance, Resting tremor, Lewy bodies, Bradykinesia, Parkin... OMIM:168601
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Stereotypy, Short s... OMIM:617862
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Abnormal cerebral white matter morphology, Ataxia, Myoclonus, Babi... OMIM:607317
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dystonia, Gliosis, Dysphagia, Paralysis, Amyotrophic lateral sclerosis, Athetosis OMIM:300857
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Dysphagia, Hypertonia, Cerebral calcification, Myoclonus, Microcephaly, Choreoa... OMIM:261630
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis, Abnormality of extrapyramidal motor function, Cerebral atrophy, Myoclonus, Distal sensor... OMIM:604218
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Gliosis, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Ste... ORPHA:457240
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618697
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Gliosis, Paraparesis, Cerebral atrophy, Tetraparesis, Abnormal lower motor neuron morpho... OMIM:105550
Combined Oxidative Phosphorylation Deficiency 14
Gliosis, Growth delay, Cerebral atrophy, Thrombocytopenia, Myoclonus, Anemia, Microcephaly, Diffu... OMIM:614946
Hereditary Late-Onset Parkinson Disease
Dystonia, Gliosis, Akinesia, Parkinsonism with favorable response to dopaminergic medication, Dys... ORPHA:411602
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Failure to thrive, Abnormal cerebral white matter morphology OMIM:618951
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis, Cerebral atrophy, Degeneration of anterior horn cells OMIM:600333
Pelizaeus-Merzbacher Disease
Tremor, Dystonia, Reduction of oligodendroglia, Dysphagia, Progressive spastic quadriplegia, Abno... OMIM:312080
Machado-Joseph Disease
Dystonia, Truncal ataxia, Impaired vibratory sensation, Gliosis, Abnormality of extrapyramidal mo... OMIM:109150
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Microcephaly, Gliosis OMIM:615119
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Dystonia, Rigidity, Dysphagia, Hypertonia, Ataxia, Bradykinesia, Small for gestational ag... OMIM:261640
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Gliosis, Neuronal loss in the cerebral cortex, Microcephaly, Cerebral hypoplasia, Age... ORPHA:168486
Coloboma Of Macula
Macular coloboma OMIM:120300
Microcephaly 10, Primary, Autosomal Recessive
Gliosis, Hypertonia, Cerebral atrophy, Small for gestational age, Intrauterine growth retardation... OMIM:615095
Leukodystrophy, Hypomyelinating, 11
Hypoplasia of the corpus callosum, Tremor, Ataxia, Spasticity OMIM:616494
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis, Slowed slurred speech, Ataxia OMIM:172500
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Leigh Syndrome
Dystonia, Gliosis, Focal substantia nigra T2 hyperintensity, Ataxia, Failure to thrive, Spasticity OMIM:256000
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal cerebral white matter morphology, Abnormal pyramidal sign, Ataxi... OMIM:614947
Cerebrooculofacioskeletal Syndrome 1
Microcephaly, Gliosis, Agenesis of corpus callosum, Failure to thrive OMIM:214150
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Gliosis, Rigidity, Clonus, Hypertonia, Babinski sign, Microcephaly, Myoclonic spasms, Progressive... OMIM:614498
Spinocerebellar Ataxia, X-Linked 3
Unilateral vocal cord paralysis, Lethargy, Incoordination, Gliosis, Dysphagia, Head titubation, D... OMIM:301790
Leukoencephalopathy With Vanishing White Matter
Lethargy, Gliosis, Gait disturbance, Unsteady gait, Cessation of head growth, Leukoencephalopathy... OMIM:603896
Adducted Thumbs Syndrome
Cerebral dysmyelination, Microcephaly, Dysphagia, Myelin-dependent gliosis OMIM:201550
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Dysphagia, Gait disturbance, Ataxia, Frontotemporal cerebr... ORPHA:391417
Pontocerebellar Hypoplasia, Type 2A
Abnormal periventricular white matter morphology, Gliosis, Abnormal cerebral white matter morphol... OMIM:277470
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Gliosis OMIM:125700
Pick Disease Of Brain
Polyphagia, Gliosis, Stereotypy OMIM:172700
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Cerebral atrophy, Tetraparesis, Abnormal pyramidal sign, Ataxia, Myoclonus, Hyp... OMIM:615924
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Astrocytosis, Dystonia, Truncal ataxia, Spastic paraparesis, Difficulty walki... ORPHA:309854
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Fatiguable weakness of proximal limb muscles, Dysphagia, Somatic senso... ORPHA:90117
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Gliosis, Neurofibrillary tangles, Polyphagia, Lewy bodies, Cerebral cortical atrophy, Pa... OMIM:607485
Mohr-Tranebjaerg Syndrome
Tremor, Dystonia, Abnormal posturing, Dysphagia, Spasticity OMIM:304700
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Pseudobulbar paralysis, Gliosis, Corpus callosum atrophy, Diffuse leukoencephalopathy, Ataxia, Ba... OMIM:169500
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... ORPHA:216873
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign, Diffuse c... OMIM:615362
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dysmetria, Bab... OMIM:610245
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Cerebral atrophy, Bradykinesia, Ankle clonus, Progressive inability to walk, Hy... ORPHA:521406
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Gliosis, Hypertonia, Ataxia, Paralysis, Myoclonus, Failure to thrive, Cerebral cort... OMIM:203700
Spinocerebellar Ataxia Type 38
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Cerebral atrophy, Poor fine motor coordination... ORPHA:98762
Sotos Syndrome 3
Hyperactivity OMIM:617169
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Hypochromic microcytic anemia, Gliosis, Growth delay, Head titubation, Subc... ORPHA:3240
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Supranuclear Palsy, Progressive, 1
Tremor, Axial dystonia, Eyelid apraxia, Neurofibrillary tangles, Gliosis, Akinesia, Dysphagia, Br... OMIM:601104
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Ataxia, Hyperactivity OMIM:300983
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Cerebral atrophy, Bradykinesia, Ankle clonus, Parkinsonism, B... OMIM:617013
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Dystonia, Gait ataxia, Abnormal posturing, Chorea, Gait disturbance, Dysphagia, Resti... ORPHA:225147
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Abnormal caudate nucleus morphology, Parkinsonism with favorab... ORPHA:314632
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Optic atrophy, Hyperactivity OMIM:274270
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Tremor, Cerebral atrophy, Ataxia OMIM:618637
Aicardi-Goutieres Syndrome 6
Tremor, Dystonia, Hemolytic anemia, Loss of ability to walk, Cerebral calcification, Microcephaly... OMIM:615010
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Tay-Sachs Disease
Inability to walk, Tremor, Dystonia, Hypointensity of cerebral white matter on MRI, Gliosis, Clum... ORPHA:845
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Abnormal periventricular white mat... OMIM:617225
Supranuclear Palsy, Progressive, 2
Postural tremor, Eyelid apraxia, Axial dystonia, Neurofibrillary tangles, Gliosis, Akinesia, Dysp... OMIM:609454
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Dysmetria, Hypera... OMIM:618090
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Ataxia, Gliosis, Failure to thrive OMIM:220111
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Lethargy, Gliosis, Chorea, Abnormal cerebral white matter morphology, Cerebral atrophy,... OMIM:618321
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Dysphagia, Hypertonia, Cerebral atrophy, Abnormal pyramidal sign, Bradykinesia,... OMIM:617435
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Dysphagia, Gait disturbance, Impaired distal vibration sensation, Fasc... ORPHA:276435
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Gabriele-De Vries Syndrome
Tremor, Dystonia, Abnormal cerebral white matter morphology, Waddling gait, Intrauterine growth r... OMIM:617557
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Leukoencephalopathy, Distal sensory impairment, Steppage ... OMIM:618387
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Dysphagia, Ataxia, Parkinsonism, Cachexia, Dysmetria, Babi... OMIM:618093
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, D... ORPHA:240103
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Chorea, Dysphagia, Cerebral atrophy, Poor fine motor coordination, ... ORPHA:79263
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Action tremor, Ataxia, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Autosomal Spastic Paraplegia Type 58
Torticollis, Spasticity, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Clon... ORPHA:397946
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Short stature OMIM:312910
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Primary Non-Essential Cutis Verticis Gyrata
Microcephaly, Periventricular leukomalacia, Gliosis ORPHA:357225
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Neurodegeneration With Brain Iron Accumulation 2A
Gliosis, Cerebral atrophy, Abnormal pyramidal sign, Ataxia, Unsteady gait, Spastic tetraplegia OMIM:256600
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... OMIM:128230
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Falls, Par... ORPHA:306692
L-2-Hydroxyglutaric Aciduria
Gliosis, Corpus callosum atrophy, Abnormality of extrapyramidal motor function, Abnormal pyramida... OMIM:236792
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Ataxia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cor... ORPHA:33445
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Ataxia, Retinal degeneration OMIM:615558
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Xeroderma Pigmentosum, Complementation Group G
Tremor, Growth delay, Ataxia, Microcephaly, Spasticity OMIM:278780
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Leigh Syndrome
Dystonia, Gliosis, Abnormality of extrapyramidal motor function, Diffuse spongiform leukoencephal... ORPHA:506
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Cerebral cortical atrophy, Progre... OMIM:604326
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Frequent falls, Difficulty walking, Paraparesis, Abnormal cerebral white ... OMIM:302800
Myopathy, Spheroid Body
Dysphagia, Tremor, Waddling gait, Broad-based gait OMIM:182920
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Brain-Lung-Thyroid Syndrome
Abnormal drinking behavior, Dystonia, Clumsiness, Elevated circulating thyroid-stimulating hormon... ORPHA:209905
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Lissencephaly, X-Linked, 2
Pachygyria, Gliosis, Agenesis of corpus callosum, Lissencephaly, Spasticity OMIM:300215
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Reticulocytosis, Cerebral atrophy, Ataxia, Choreoathetosis OMIM:612126
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Hypoplasia of the corpus callosum, Tremor, Distal sensory impairment OMIM:616668
Parkinson Disease 14, Autosomal Recessive
Dystonia, Tremor, Clumsiness, Apraxia, Bradykinesia, Frontotemporal cerebral atrophy, Parkinsonis... OMIM:612953
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus, Dystonia OMIM:611092
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Degeneration of anterior horn cells, Oral-pharyngeal dysphagia, Tongu... OMIM:159950
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Dystonia, Rigidity, Chorea, Dysphagia, Blepharospasm, Ataxia, Bradykinesia, Writer's cram... OMIM:606159
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Gliosis, Gait disturbance, Hypertonia, Spastic tetraplegia, A... ORPHA:88619
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Dysphagia, Eyelid myoclonus, Abnormal ... ORPHA:2590
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Action tremor, Br... OMIM:300423
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis, Hypertonia, Spastic tetraplegia, Tetraplegia, Cerebral edema OMIM:608033
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Gait ataxia, Dystonia, Apraxia, Gait disturbance,... ORPHA:3095
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Difficulty walking, Hypoplasia of the corpus callosum, Failure to thr... ORPHA:477673
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Dysphagia, Progressive cerebellar a... OMIM:164500
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Growth delay, Oculomotor apraxia, Ataxia, Hyperactivity, Microcephaly, Choreoat... OMIM:612716
Neuroferritinopathy
T2 hypointense thalamus, Dystonia, Palatal myoclonus, Chorea, Resting tremor, Iron accumulation i... ORPHA:157846
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism, Cerebral cortical ... ORPHA:306669
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Spasticity, Ankle clonus, Dysmetria, Babin... OMIM:270500
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Cerebral atrophy, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Gait ataxia, Dystonia, Dysmetria, Failure to thrive, Microcephaly, Cho... OMIM:617988
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy... ORPHA:83629
Parkinson Disease, Late-Onset
Tremor, Dystonia, Dysphagia, Resting tremor, Lewy bodies, Bradykinesia, Parkinsonism, Short stepp... OMIM:168600
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Focal T2 hyp... ORPHA:139485
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Midline brain calcifications, Action tremor, Bradykin... ORPHA:97355
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Dystonia 1, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Abnormal posturing, Hypertonia, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Abnormal posturing, Growth delay, Cerebral atrophy, Neutropenia, Thrombocytopenia, Anemia OMIM:614857
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Abnormal cerebral white matter morphology, Myoclonus OMIM:618587
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Leukodystrophy, Hypomyelinating, 6
Tremor, Dystonia, Rigidity, Ataxia, Short stature, Microcephaly, Choreoathetosis, Spasticity OMIM:612438
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Dystonia, Gliosis, Fatigable weakness of speech muscles, Chorea, Cerebral atro... ORPHA:404454
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Hypoplasia of the corpus callosum, Dysmetria, Short s... OMIM:610185
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Tremor, Gait ataxia, Truncal ataxia, Dystonia, Rigidity, Hypoplasia of the cor... OMIM:618877
Combined Oxidative Phosphorylation Deficiency 24
Gliosis, Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Spasticity OMIM:616239
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Inability to walk, Gliosis, Upper limb spasticity, Hypoplasia of the corpus callosum, Growth dela... OMIM:617193
Optic Atrophy 11
Dysmetria, Optic atrophy, Ataxia, Hyperactivity OMIM:617302
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
3-Methylglutaconic Aciduria, Type Viii
Tremor, Dystonia, Hypoplasia of the corpus callosum, Hypertonia, Cerebral atrophy, Growth delay, ... OMIM:617248
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Dopa-Responsive Dystonia
Inability to walk, Tremor, Dystonia, Lethargy, Abnormality of extrapyramidal motor function, Diff... ORPHA:255
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Ataxia, Basal ganglia calcification, Cerebellar gliosis, Distal ... OMIM:616505
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Inability to walk, Pachygyria, Dysphagia, Decreased body weight, Cerebral edema, Li... ORPHA:258
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida... OMIM:213600
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Cerebral atrophy, Ataxia, Abnormal corpu... ORPHA:442835
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive spasticity, Tremor, Truncal ataxia, Clumsiness, Spastic ataxia, Hypoplasia of the cor... ORPHA:137898
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Hypoplasia of the corpus callosum, ... ORPHA:93952
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Myo... ORPHA:98763
Mannosidosis, Alpha B, Lysosomal
Gait ataxia, Corpus callosum atrophy, Gliosis, Vacuolated lymphocytes, Limb ataxia, Growth delay,... OMIM:248500
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Riboflavin Transporter Deficiency
Tremor, Dysphagia, Ataxia, Cerebral cortical atrophy, Myoclonus, Cachexia ORPHA:97229
Dystonia 11, Myoclonic
Writer's cramp, Tremor, Myoclonus, Torticollis OMIM:159900
Hereditary Central Diabetes Insipidus
Polydipsia, Growth delay, Lethargy, Weight loss ORPHA:30925
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Dystonia, Apraxia, Spastic paraparesis, Incoordination, Cerebral atro... OMIM:615157
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Gait disturbance, Poor coordination, Ataxia, Abnormal eating behavior, Abnormality of pai... ORPHA:544254
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Dystonia, Tremor, Hypoplasia of the corpus callosum, Spastic diplegia, Postnatal growth retardati... ORPHA:480907
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Dystonia, Gait ataxia, Lethargy, Cogwheel rigidity, Chorea, Hypertonia, Abnorm... OMIM:607483
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... OMIM:600363
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Decreased body weight, Short stature, Microcephaly OMIM:278760
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Growth delay, Bradykinesia, Oculogyric crisis, Limb hypertonia, Small for gesta... ORPHA:70594
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Huntington Disease-Like 2
Dystonia, Chorea, Weight loss, Action tremor, Bradykinesia, Rigidity OMIM:606438
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Ataxia, Somatic sensory dysfunction, Leukoencephalopathy, Rigidity OMIM:603472
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Spastic paraparesis, Cerebral atrophy, Bradykinesia, Iron accumulation in subst... ORPHA:329284
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Spastic paraparesis, Difficulty walking, Gait disturbance, Somatic sen... ORPHA:101077
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Spinocerebellar Ataxia, Autosomal Recessive 17
Unsteady gait, Tremor, Truncal ataxia, Dysmetria OMIM:616127
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Dysphagia, Abnormal pyramidal sig... OMIM:616795
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Dystonia, Akinesia, Parkinsonism with favorable response to dopaminer... OMIM:606693
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Gerstmann-Straussler Disease
Tremor, Gait ataxia, Truncal ataxia, Neurofibrillary tangles, Apraxia, Limb ataxia, Weight loss, ... OMIM:137440
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Oculogyric crisis, Diffuse cerebral atro... ORPHA:330050
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Distal sensory impairment, Babinski sign, Steppage gait, Spasticity OMIM:609260
Pediatric-Onset Graves Disease
Tremor, Polyphagia, Hyperkinetic movements, Neutropenia in presence of anti-neutropil antibodies,... ORPHA:525731
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... ORPHA:228360
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Degeneration of anterior horn cells, Parkinsonism, Gliosis, Trophic limb changes OMIM:118301
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Gait disturbance, Growth delay, Babinski sign... OMIM:616586
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Molybdenum Cofactor Deficiency, Complementation Group B
Gliosis, Hypoplasia of the corpus callosum, Hypertonia, Cerebral atrophy, Growth delay, Opisthoto... OMIM:252160
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dysmetria, Short statur... ORPHA:1170
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Dystonia, Bradykinesia, Ataxia, Short stature, Rigidity OMIM:617836
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101075
Kleefstra Syndrome Due To A Point Mutation
Gliosis, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Failure to... ORPHA:261652
Pyruvate Dehydrogenase Deficiency
Tremor, Dystonia, Lethargy, Aplasia/Hypoplasia of the corpus callosum, Gait disturbance, Abnormal... ORPHA:765
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Gliosis, Hypoplasia of the corpus callosum, Rhizomelia, Cerebral atrophy, Failure to thrive, Shor... OMIM:602613
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Lewy bodies, Bra... OMIM:607060
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Cerebral atrophy, Tetraparesis, Abnormal pyramidal ... ORPHA:363400
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Short stature, Ataxia ORPHA:1368
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Impaired tactile sensation, Difficulty walki... ORPHA:206443
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Distal sensory impairment, Splenomegaly, Frequent falls, Spasticity OMIM:616719
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Hypoplasia of the corpus callosum, Dysphagia, Ataxia, Abnormal eating behavior, Cessation... ORPHA:98794
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Microcephaly, Choreoathetosis, Shuffli... OMIM:300055
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Myoclonus, Dysmetria OMIM:619028
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Lethargy, Dystonia, Rigidity, Dysphagia, Hyperkinetic movements, Limb hypertonia, Choreoa... OMIM:233910
Urocanase Deficiency
Tremor, Short stature, Ataxia OMIM:276880
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Dystonia, Attention deficit hyperactivity disorder, Apraxia, Dysphagia... ORPHA:52368
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Ataxia, Myoclonus, Stereotypy, Micro... OMIM:619092
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Perianal abscess, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Cockayne Syndrome Type 3
Astrocytosis, Cerebral white matter atrophy, Difficulty walking, Subcortical white matter calcifi... ORPHA:90324
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Abnormally lo... OMIM:619374
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysm... OMIM:614831
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Monomelic Amyotrophy
Fasciculations, Tremor, Degeneration of anterior horn cells ORPHA:65684
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Myoclonus, Writer's cramp OMIM:608105
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Dysphagia, Oculom... OMIM:183090
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Impaired distal vibration sensation, Dis... ORPHA:99027
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101078
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology... OMIM:300354
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Lethargy, Weight loss ORPHA:178029
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Abnormality of extrapyramidal motor function, Head tremor, Difficulty walking, Abnormal... ORPHA:280219
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Broad-based gait, Resting tremor, Lower limb spasticity, Parkinsonism, Short stature, Hyp... ORPHA:3077
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of coordination, Gait disturbance, Hypertonia, ... ORPHA:352649
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Gait disturbance, Hypertonia, Cerebral cortical atrophy, Short stature, Anemia ORPHA:1192
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Molybdenum Cofactor Deficiency, Complementation Group A
Gliosis, Hypoplasia of the corpus callosum, Growth delay, Cerebral atrophy, Spastic tetraparesis,... OMIM:252150
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Fatigable weakness of neck muscles, Dysphagia, Gliosis ORPHA:26791
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... OMIM:607594
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Myoclonus, Ataxia OMIM:614018
Postencephalitic Parkinsonism
Cogwheel rigidity, Paresthesia, Akinesia, Dysphagia, Abnormal pyramidal sign, Resting tremor, Bra... ORPHA:97349
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Stereotypy, Hyperactivity, Microcephaly, Spasticity OMIM:618718
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Gait ataxia, Apraxia, Dysmetria, Spasticity OMIM:617810
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Incoordination, Generalized cerebral atrophy/hypoplasia, Poor fine motor coordination, At... ORPHA:36387
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,...