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Gene: Atrn MGI:1341628

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Gene Summary

Name:
attractin
Synonyms:
Mgca

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
decreased grip strength Atrntm1.1(KOMP)Vlcg HOM Early adult 2.61×10-06
increased bone mineral content Atrntm1.1(KOMP)Vlcg HOM Early adult 5.35×10-05
abnormal eye morphology Atrntm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Quadriceps  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 0.0% (0 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote Not available
Large intestine N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

106 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Atrn 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 Atrn by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor OMIM:160120
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor, Premature graying of hair OMIM:190200
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Rigidity, Limb dystonia, Limb ataxia, Babinski sign, Thalamic calcification, Hypert... OMIM:618824
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Broad-based gait, Spastic paraparesis, Dys... OMIM:616053
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Cerebral cortical atrophy, Rigidity, Myoclonus, Disinhibition, Gait disturbance, Ba... OMIM:600795
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Spasticity, Basal ganglia gliosis, Rigidity, Myoclonus, Atrophy/Degeneration involvi... ORPHA:225154
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... OMIM:614561
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short stature DECIPHER:19
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Babinski sign, Lower limb spasticity ORPHA:401840
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Phosphoserine Phosphatase Deficiency
Seizure, Cerebral atrophy, Hypertonia, Intrauterine growth retardation, Postnatal growth retardation OMIM:614023
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis OMIM:158580
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Torticollis, Abnormal motor neuron morphology, Head tremor, I... OMIM:613724
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Tremor, Hereditary Essential, 6
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor OMIM:618866
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myoclonus, Upp... ORPHA:204
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hemiparesis, Hypoplasia of the pons, Midline brainstem cleft, Fusion of the left and right thalam... OMIM:617542
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait OMIM:616921
Inherited Creutzfeldt-Jakob Disease
Gait ataxia, Global brain atrophy, Chorea, Abnormal pyramidal sign, Progressive cerebellar ataxia... ORPHA:282166
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Cerebral cortical atrophy, Subcortical cerebral atrophy, Spasticity... ORPHA:33445
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Postural tremor ORPHA:85292
Spinocerebellar Ataxia 43
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor OMIM:617018
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Abnormal pyramidal sign, Parkinsonism, Ataxia, Dysmetria, Thalamic calcification, Slurred... OMIM:618317
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Abnormality of extrapyramidal motor function, Disinhibition, Upp... ORPHA:275864
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor, Difficulty walking ORPHA:423296
Tremor, Hereditary Essential, 1
Hand tremor, Action tremor, Postural tremor OMIM:190300
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... OMIM:605407
Neuroferritinopathy
Chorea, Iron accumulation in substantia nigra, Abnormal dentate nucleus morphology, Blepharospasm... ORPHA:157846
Dystonia 23
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Gait disturbance, Head tremor, Axial dystonia OMIM:614860
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Ataxia, Babinski sign OMIM:611105
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia OMIM:600116
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... OMIM:260300
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Cerebral cortical atrophy, Seizure, Focal-onset seizure, Abnormality of extrapyramid... OMIM:615362
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Dystonia, Spastic tetraplegia, Decreased thalamic volume OMIM:618646
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Tubulinopathy-Associated Dysgyria
Abnormality of thalamus morphology, Abnormal brainstem morphology, Oculomotor apraxia, Ataxia, Hy... ORPHA:467166
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Astrocytosis, Focal impaired awareness seizure OMIM:607341
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Alexander Disease Type I
Spasticity, Abnormal pyramidal sign, Palatal tremor, Ataxia, Abnormal thalamic MRI signal intensi... ORPHA:363717
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia OMIM:618425
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Hyperactivity, Seizure, Myoclonus, Ataxia, Neuronal loss in ... OMIM:615924
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Spastic gait, Babinski sign, Aplasia/Hypoplasia of the cerebellar... ORPHA:401820
Spinocerebellar Ataxia 38
Gait ataxia, Cerebellar vermis atrophy, Myoclonus, Limb ataxia, Ataxia, Tremor, Atrophy/Degenerat... OMIM:615957
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Gait disturbance, Resting tremor OMIM:616710
Spinocerebellar Ataxia Type 37
Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturbance, Tremor, Cogwheel rigidity... ORPHA:363710
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair, Seizure, Incoordination, Gait ataxia OMIM:618808
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... ORPHA:98762
Dystonia 16
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Unsteady gait... ORPHA:210571
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements OMIM:611092
Migraine, Familial Hemiplegic, 1
Seizure, Hemiparesis, Ataxia, Hemiplegia, Agitation, Tremor, Cerebellar atrophy OMIM:141500
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... ORPHA:314978
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia ORPHA:401901
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor OMIM:612437
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations ORPHA:309169
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Dysmetria, Tremor, Loss of ambulation, Unsteady gait OMIM:617917
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Tremor, Cerebellar atrophy OMIM:616187
Spinocerebellar Ataxia Type 40
Gait ataxia, Dysdiadochokinesis, Broad-based gait, Spastic paraparesis, Dysmetria, Unsteady gait,... ORPHA:423275
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, White forelock ORPHA:2779
Supranuclear Palsy, Progressive, 1
Retrocollis, Granulovacuolar degeneration, Gait imbalance, Falls, Akinesia, Parkinsonism, Rigidit... OMIM:601104
Primary Dystonia, Dyt2 Type
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... ORPHA:99657
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin, Athetosis, Growth delay OMIM:257800
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Short stature ORPHA:90023
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Myoclonus, Hippocampal sclerosis, Bilateral tonic-clo... OMIM:615400
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor, Unsteady gait OMIM:615768
Cyanide-Induced Parkinsonism-Dystonia
Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Falls, Short stepped shuffling gait, Brad... ORPHA:306692
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Seizure, Inability to walk, Focal-onset seizure, Oculogyric crisis, Generalized myoclonic seizure... ORPHA:330050
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Corticobasal Syndrome
Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, G... ORPHA:454887
Dystonia, Dopa-Responsive
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... OMIM:128230
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the brainstem, Decreased thalamic volume, Cerebellar hypoplasia OMIM:619072
Coasy Protein-Associated Neurodegeneration
Spastic paraparesis, Abnormality of thalamus morphology, Oromandibular dystonia, Parkinsonism ORPHA:397725
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Seizure, Torticollis, Myoclonus, Ataxia, Babins... OMIM:607317
Diaminopentanuria
Spasticity, Neurodegeneration, Seizure, Ataxia OMIM:222350
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Tremor, Craniofa... OMIM:617284
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor OMIM:616291
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Spinal Muscular Atrophy, Jokela Type
Tremor, Difficulty walking, Fasciculations OMIM:615048
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Spasticity, Seizure, Accumulation of melanosomes in melanocytes, Si... OMIM:607624
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
Urocanase Deficiency
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait OMIM:276880
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia OMIM:300911
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration, Seizure OMIM:613068
Congenital Muscular Dystrophy With Cerebellar Involvement
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Hypoplasia of the brainstem, Abno... ORPHA:370959
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Spinocerebellar Ataxia 23
Gait ataxia, Limb ataxia, Babinski sign, Dysmetria, Tremor, Cerebellar atrophy, Agenesis of corpu... OMIM:610245
Spinocerebellar Ataxia Type 2
Gait ataxia, Chorea, Abnormality of the spinocerebellar tracts, Abnormal substantia nigra morphol... ORPHA:98756
Parkinson Disease 17
Resting tremor, Parkinsonism, Rigidity, Akinesia, Tremor, Bradykinesia OMIM:614203
Cach Syndrome
Spasticity, Cerebellar vermis atrophy, Spastic diplegia, Lateral ventricle dilatation, Truncal at... ORPHA:135
Tremor, Hereditary Essential, 4
Action tremor, Postural tremor OMIM:614782
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613265
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Seizure, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Imp... OMIM:300423
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Loss of ambulation, ... ORPHA:521406
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Unsteady gait, Intention tremor OMIM:302500
Ceroid Lipofuscinosis, Neuronal, 7
Generalized myoclonic seizure, Ataxia, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration, P... OMIM:610951
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Hyperactivity, Inability to walk, Rigidity, Generalized myoclonic seizure, Gait dist... OMIM:618090
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, G... ORPHA:216873
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Spasticity, Abnormal pyramidal sign, Hyperactivity, Reduced intraabdominal adipose t... ORPHA:363400
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormalit... ORPHA:79262
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Ataxia, Tremor, Attent... OMIM:616421
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Abnormal pyramidal sign, Shuffling gait, Limb hypertonia, Parkinsonism, Rigidity, Los... OMIM:615528
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Cerebral cortical atrophy, Hyperactivity, Seizure, Frontal upsweep of hair, Ataxia, T... OMIM:300983
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Spasticity, Seizure, Accumulation of melanosomes in melanocytes, At... OMIM:256710
Familial Acute Necrotizing Encephalopathy
Spasticity, Abnormality of thalamus morphology, Abnormal brainstem morphology, Spastic tetraplegi... ORPHA:88619
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor OMIM:607458
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Spinocerebellar Ataxia Type 28
Gait ataxia, Spasticity, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia, Babinski sign, Head ... ORPHA:101109
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Cerebellar dysplasia, Dysplastic corpus callosum, Cerebe... OMIM:604213
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Flexion contracture, Typical absence seizure, Seizure, Inability to walk, Eyelid ... ORPHA:2590
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Myoclonic seizure, Seizure, Generalized myoclonic seizure, Ataxia, Bilateral tonic-c... OMIM:617831
Infantile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Chorea, Spasticity, Cerebral cortical atrophy, Dysphagia, Brain atr... ORPHA:79263
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Chorea, Spasticity, Cerebral cortical atrophy, Abnormal pyramidal sign, Seizure, Inability to wal... OMIM:617672
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Gait disturbance, Tr... OMIM:213600
Progressive Non-Fluent Aphasia
Restlessness, Frontotemporal cerebral atrophy, Parkinsonism, Apraxia, Abnormality of extrapyramid... ORPHA:100070
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Absence seizure with eyelid myoclonia, Truncal ataxia, Myoclonus, Generalize... OMIM:618587
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Gait ataxia, Spastic tetraplegia, Clumsiness, T2 hypointense thalamus, Ataxia, Frequent falls, Ce... ORPHA:1947
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Atypical Juvenile Parkinsonism
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Resting tremor, Akinesia, Rigidity, Inabili... ORPHA:391411
Dystonia 12
Parkinsonism, Torticollis, Tremor, Unsteady gait, Dystonia, Bradykinesia OMIM:128235
Alzheimer Disease 3
Cerebral cortical atrophy, Seizure, Apraxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:607822
Generalized Epilepsy With Febrile Seizures-Plus
Poor fine motor coordination, Febrile seizure (within the age range of 3 months to 6 years), Gene... ORPHA:36387
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Apraxia, Myoclonus, T2 hypointense thalamus, Babinski sign OMIM:618193
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar vermis atrophy, Ankle clonus, Abnormal pyramidal sign, Dysphagia, Seizure,... OMIM:617435
Huntington Disease
Gait ataxia, Chorea, Seizure, Rigidity, Neuronal loss in central nervous system, Gliosis, Cerebel... OMIM:143100
Japanese Encephalitis
Abnormal substantia nigra morphology, Abnormality of thalamus morphology, Respiratory paralysis, ... ORPHA:79139
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spasticity, Hypoplasia of the brainstem, Abnormality of thalamus morphology, Spastic ataxia, Spas... ORPHA:300570
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Babinski sign, Spastic paraplegia,... ORPHA:251282
Spinocerebellar Ataxia 17
Gait ataxia, Chorea, Seizure, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Diffuse ce... OMIM:607136
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Small nail, Seizure, Elbow flexion contracture, Spastic tetraparesis, Tremor, Broa... OMIM:619470
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Myoclonic status epilepticus, Ataxia, Loss of ambulation, Tremor, Bilateral tonic-clon... OMIM:614018
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... OMIM:193510
Aceruloplasminemia
Gait ataxia, Chorea, Abnormal dentate nucleus morphology, Blepharospasm, Parkinsonism, Rigidity, ... ORPHA:48818
Developmental And Epileptic Encephalopathy 97
Epileptic spasm, Tremor, Seizure, Inability to walk OMIM:619561
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Myoclonus, Focal T2 hyperintense thalamic lesion OMIM:619057
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Heterochromia iridis, Premature graying of hair ORPHA:66633
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Tremor, Difficulty walking OMIM:613608
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Developmental And Epileptic Encephalopathy 42
Myoclonic seizure, Flexion contracture, Focal tonic seizure, Ataxia, Tonic seizure, Bilateral ton... OMIM:617106
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Dystonia, Frequent falls OMIM:619647
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ankle clonus, Seizure, Dysdiadochokinesis, Ataxia, Babinski sign, Spastic paraplegia, Spastic tet... OMIM:612319
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spastic Paraplegia 6, Autosomal Dominant
Seizure, Spastic gait, Babinski sign, Spastic paraplegia, Tremor, Lower limb spasticity, Clonus, ... OMIM:600363
Spinocerebellar Ataxia, Autosomal Recessive 2
Gait ataxia, Spasticity, Cerebellar vermis atrophy, Short stature, Limb ataxia, Incoordination, A... OMIM:213200
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Progress... OMIM:604326
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Cerebellar hypoplasia, Atrophy of the dentate nucleus, Truncal ataxia, Dysmet... OMIM:610185
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Gait imbalance, Falls, Akinesia, Rigidity, Oculomotor apraxia, Spastic dysarthria,... ORPHA:240094
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Impulsivity, Lower limb spasticity, C... OMIM:619028
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... OMIM:617145
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Fasciculations ORPHA:65684
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Tip-... ORPHA:397946
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Chorea, Spasticity, Hyperactivity, Dysphagia, Seizure, Dysdiadochokinesis, Babinski ... OMIM:610217
Spinocerebellar Ataxia Type 14
Gait ataxia, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebellar ataxia ORPHA:98763
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Gait disturbance, Upper motor neuron dysfunction, Tremor, Tongue fasciculation... ORPHA:276435
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Short stature, Generalized hyperpigmentation ORPHA:1355
Hsd10 Disease
Frontotemporal cerebral atrophy, Seizure, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance,... ORPHA:391417
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis, Seizure, Difficulty walking, Inability to walk OMIM:611087
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Seizure, Focal motor seizure, Poor coordination, Status epilepticus, Ataxia, A... OMIM:617665
Developmental Delay And Seizures With Or Without Movement Abnormalities
Short stature, Rigidity, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, T... OMIM:617836
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Tremor, Seizure OMIM:615127
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Spinocerebellar Ataxia 7
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... OMIM:164500
X-Linked Dystonia-Parkinsonism
Chorea, Blepharospasm, Shuffling gait, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism wit... ORPHA:53351
Myopathy, spheroid body
Tremor, Broad-based gait, Waddling gait OMIM:182920
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Myoclonus, Tremor, Alcoholism OMIM:159900
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Hyperactivity, Seizure, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Growth d... OMIM:612716
Cln5 Disease
Spasticity, Cerebral cortical atrophy, Hyperactivity, Seizure, Dysdiadochokinesis, Inability to w... ORPHA:228360
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
Juvenile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Parkinsonism, Myoclonic spasms, Clumsiness, Poor motor coordination... ORPHA:79264
Leigh Syndrome
Abnormal brainstem MRI signal intensity, Choreoathetosis, Frontal hirsutism, Upper motor neuron d... ORPHA:506
Neurodegeneration With Brain Iron Accumulation 7
Ataxia, Dysmetria, Tremor, Lower limb spasticity, Cerebellar atrophy, Spinocerebellar tract degen... OMIM:617916
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Familial Dyskinesia And Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Difficulty walking, Dystonia ORPHA:324588
Glycosylphosphatidylinositol Biosynthesis Defect 15
Gait ataxia, Myoclonic seizure, Spasticity, Inability to walk, Apraxia, Dysmetria, Tremor, Atonic... OMIM:617810
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles OMIM:605055
Dravet Syndrome
Poor fine motor coordination, Global brain atrophy, Generalized clonic seizure, Epilepsia partial... ORPHA:33069
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... ORPHA:895
Classic Phenylketonuria
Hypopigmentation of the skin, Seizure, Hemiplegia, Hypopigmentation of hair, Paraplegia, Tremor, ... ORPHA:79254
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Seizure, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Craniofacial dyst... ORPHA:71517
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... OMIM:607671
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Bilateral tonic-clon... OMIM:618093
Acute Disseminated Encephalomyelitis
Abnormal pyramidal sign, Myelitis, Abnormal cerebellum morphology, Abnormal brainstem MRI signal ... ORPHA:83597
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Increased adipose tissue, Delayed puberty, Polyphagia, Growth delay... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Increased adipose tissue, Delayed puberty, Polyphagia, Growth delay... ORPHA:71526
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Dystonia 16
Retrocollis, Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Gait disturba... OMIM:612067
Oculoskeletodental Syndrome
Abnormality of the frontal hairline, Dysplastic corpus callosum, Abnormality of thalamus morphology ORPHA:557003
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dysphagia, Dystonia OMIM:261630
Spinocerebellar Ataxia Type 27
Gait ataxia, Akinesia, Truncal ataxia, Hand tremor, Limb ataxia, Gait disturbance, Tremor, Diffic... ORPHA:98764
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Ataxia, Hypopigmented skin patches, Hyp... ORPHA:2885
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Progressive gait ataxia, Clumsiness, Oculomotor apraxia, Limb ataxia, Babinski s... ORPHA:284324
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Short stature ORPHA:2786
Leigh Syndrome With Cardiomyopathy
Chorea, Spasticity, Abnormality of thalamus morphology, Abnormal brainstem morphology, Ataxia, Hy... ORPHA:70474
Spinocerebellar Ataxia 50
Chorea, Cerebellar vermis atrophy, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Acti... OMIM:620158
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Hyperactivity, Seizure, Iris hypopigmentation, Ataxia, Hypopigmenta... ORPHA:411515
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Degeneration of anterior horn cells, Myoclonus, Generalized myoclonic ... OMIM:159950
Neurodegeneration With Brain Iron Accumulation 6
Tip-toe gait, Spastic tetraplegia, Rigidity, Gait disturbance, Spastic paraparesis, Oromandibular... OMIM:615643
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Hypoplasia of the brainstem, Dystonia, Myoclonus OMIM:619651
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... OMIM:606159
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gait ataxia, Atrophy/Degeneration involving the spinal cord, Myoclonus, Abnormal thalamic MRI sig... ORPHA:70595
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Apraxia, Hand tremor, Ataxia, Babinski sign, Dystonia, Cerebellar atrophy, Neurodegen... OMIM:615889
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Inability to walk, Waddling gait OMIM:616269
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Tremor OMIM:601068
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral cortical atrophy, Babinski sign, Dysphagia, Bradykinesia, Gait ataxia, Dysmetria, Limb f... OMIM:615157
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Ataxia, Tremor, Growth delay, Infantile spasms OMIM:278780
Ataxia-Telangiectasia
Spasticity, Seizure, Premature graying of hair, Short stature, Gait disturbance, Ataxia, Hypopigm... ORPHA:100
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Ataxia, Dysmetria, Tremor, Steppage gait OMIM:618387
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Abnormal pyramidal sign, Generalized tonic seizure, Seizure, Myoclo... OMIM:612016
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Abnormal pyramidal sign, Tremor by anatomical site, Falls, Parkinsonism, Rigidity,... ORPHA:99750
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Trem... OMIM:618049
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Seizure, Hemiparesis, Focal-onset seizure, Status epilepticus, Ataxia, Intention trem... OMIM:614307
Griscelli Syndrome Type 1
Seizure, Premature graying of hair, Iris hypopigmentation, Ataxia, White hair, Hypertonia, Partia... ORPHA:79476
Alzheimer Disease 9, Susceptibility To
Cerebral cortical atrophy, Abnormality of extrapyramidal motor function, Hippocampal atrophy, Neu... OMIM:608907
Tay-Sachs Disease
Poor fine motor coordination, Exaggerated startle response, Ankle clonus, Progressive spasticity,... ORPHA:845
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Cerebral cortical atrophy, Seizure, Postural tremor, Short stature, Ataxia, Babinski ... OMIM:607694
Developmental And Epileptic Encephalopathy 32
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Seizure, Myoclo... OMIM:616366
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Spinocerebellar Ataxia, Autosomal Recessive 13
Gait ataxia, Abnormal pyramidal sign, Seizure, Dysdiadochokinesis, Inability to walk, Short statu... OMIM:614831
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Spastic tetrapleg... OMIM:619306
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... OMIM:613135
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Seizure, Myoclonus, Tremor, Cerebellar atrophy, Progressive cerebellar a... ORPHA:139485
Cerebral Creatine Deficiency Syndrome 2
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Rigidity, Paraparesis, My... OMIM:612736
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Postural tremor, Resting tremor, Parkinsonism, Clumsiness, Rigidity, Akinesia, Freezing of gait, ... OMIM:619911
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Brain atrophy, Limb hypertonia, Seizure, Rigidity, Short stature, Myoclonus, Status e... ORPHA:442835
Dystonia 24
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia OMIM:615034
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Limb dystonia, Torticollis, Myoclonus, Hand tremor, Upper limb postural tremor, Or... ORPHA:420485
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apraxia, Parkinsonism with favor... ORPHA:240103
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia, Bradykinesia ORPHA:306669
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Gait disturbance, Ataxia ORPHA:101075
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Myoclonus, Paralysis, Generalized non-convulsive status epilepticus... OMIM:203700
Early-Onset Autosomal Dominant Alzheimer Disease
Cerebral cortical atrophy, Seizure, Parkinsonism, Apraxia, Oculomotor apraxia, Myoclonus, Ataxia,... ORPHA:1020
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Ankle clonus, Flexion contracture, Postural tremor, Ataxia, Babinski sign, Spastic... OMIM:615491
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles OMIM:601706
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Gait disturbance, Spastic paraparesis, Tremor, Difficulty walking ORPHA:101077
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Short stature, Congenital diaphragmatic hernia, Absent pubertal growth spurt, Cerebe... ORPHA:438134
Behr Syndrome
Cerebellar vermis atrophy, Adductor longus contractures, Progressive spasticity, Truncal ataxia, ... OMIM:210000
Beta-Propeller Protein-Associated Neurodegeneration
Iron accumulation in substantia nigra, Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Cereb... ORPHA:329284
Gerstmann-Straussler Disease
Gait ataxia, Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus, Limb ataxia,... OMIM:137440
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Gait disturbance, Ataxia ORPHA:101078
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Dilated third ventricle, Ankle clonus, Resting tremor, Lateral ventricle dilatation, ... ORPHA:363654
Spinocerebellar Ataxia 15
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Ocular albinism, Generalized... ORPHA:2720
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Short stature, Iris hypopigmentation, Hypopigmentation of hair, Pol... ORPHA:177910
Atypical Rett Syndrome
Gait ataxia, Spasticity, Limb myoclonus, Seizure, Inability to walk, Apraxia, Generalized myoclon... ORPHA:3095
Albinism-Deafness Syndrome
Albinism, Partial albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Gm2 Gangliosidosis, Ab Variant
Chorea, Exaggerated startle response, Abnormal pyramidal sign, Seizure, Short stature, Progressiv... ORPHA:309246
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Abnormal dentate nucleus morphology, Ataxia, Fusion of the ... ORPHA:59315
Leukodystrophy, Hypomyelinating, 6
Spasticity, Seizure, Short stature, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor... OMIM:612438
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Tremor, Dystoni... ORPHA:240085
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyelashes, White eyebrow, Ataxia, Hypopigmented skin patches, Wh... OMIM:277580
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Choreoathetosis, Paroxysmal dyskinesia, Invol... OMIM:606703
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Global brain atrophy, Hyperkinetic movements, Parkinsonism, Ataxia, Tremor, Action tremor... OMIM:619738
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Paraparesis, Achilles tendon contracture, Hand tremor, Incoordination, Gait disturb... OMIM:302800
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
Pelizaeus-Merzbacher Disease
Global brain atrophy, Generalized dystonia, Cerebellar vermis atrophy, Abnormal pyramidal sign, S... OMIM:312080
Neurodegeneration With Brain Iron Accumulation 5
Seizure, Akinesia, Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Cerebral atroph... OMIM:300894
Adult-Onset Dystonia-Parkinsonism
Spasticity, Frontotemporal cerebral atrophy, Seizure, Rigidity, Eyelid apraxia, Clumsiness, Parki... ORPHA:199351
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Babinski sign, Intention tremor, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
4H Leukodystrophy
Seizure, Dysdiadochokinesis, Short stature, Progressive gait ataxia, Abnormality of extrapyramida... ORPHA:289494
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... OMIM:606324
Kufor-Rakeb Syndrome
Spasticity, Akinesia, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism with favorab... OMIM:606693
Spinocerebellar Ataxia 2
Dilated fourth ventricle, Spasticity, Dysdiadochokinesis, Postural tremor, Parkinsonism, Oculomot... OMIM:183090
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
Glut1 Deficiency Syndrome 2
Seizure, Choreoathetosis, Ataxia, Tremor, Cerebral atrophy, Dystonia OMIM:612126
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gait ataxia, Spasticity, Hemiballismus, Inability to walk, Parkinsonism, Truncal ataxia, Rigidity... OMIM:618877
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Spastic ataxia, Spastic gait, Ataxia, Babinski sign, Tremor, Unsteady gait OMIM:616795
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Gait disturbance, Abnormalit... ORPHA:96
Autosomal Recessive Spastic Paraplegia Type 23
Seizure, Spastic gait, Short stature, Multiple lentigines, Spastic paraplegia, Silver-gray hair, ... ORPHA:101003
Hypermanganesemia With Dystonia 2
Spasticity, Ankle clonus, Tip-toe gait, Inability to walk, Parkinsonism, Limb dystonia, Clumsines... OMIM:617013
Spinocerebellar Ataxia Type 21
Gait ataxia, Akinesia, Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressiv... ORPHA:98773
Spinocerebellar Ataxia, Autosomal Recessive 30
Titubation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:619405
Dystonia 34, Myoclonic
Writer's cramp, Torticollis, Myoclonus, Hand tremor, Impaired tandem gait, Head tremor, Dystonia OMIM:619724
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Seizure, Spastic diplegia, Synophrys, Long eyelashes, Tremor, Lipoma, Thick eyebrow, Dystonia, Po... ORPHA:480907
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity, Cerebellar edema ORPHA:363558
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Dysdiadochokinesis, Parkinsonism, Limb dystonia, Oculogyric crisis, Gait disturba... ORPHA:352649
Adult-Onset Cervical Dystonia, Dyt23 Type
Writer's cramp, Torticollis, Myoclonus, Focal dystonia, Head tremor, Axial dystonia, Craniofacial... ORPHA:420492
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... ORPHA:897
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Amyotrophic lateral sclerosis, Gliosis, Dysphagia, Athetosis, Dystonia OMIM:300857
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Poor fine motor coordination, Dysdiadochokinesis, Truncal ataxia, Rigidity, Gait disturbance, Spa... ORPHA:309854
Myoclonic-Astatic Epilepsy
Hyperactivity, Abnormal pyramidal sign, Focal-onset seizure, Generalized myoclonic seizure, Gener... ORPHA:1942
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the brainstem, Cerebellar dysplasia, Abnormal cerebellum morphology, Abnormal pyram... ORPHA:101070
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Abnormal pyramidal sign, Seizure, Focal motor seizure, Gait disturbance, Ataxia, Trem... ORPHA:542310
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Resting tremor, Parkinsonism, Seizure, Short stature, Tremor, Lowe... ORPHA:3077
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Oculomotor apraxia,... ORPHA:1170
Combined Oxidative Phosphorylation Defect Type 7
Abnormal pyramidal sign, Abnormal brainstem MRI signal intensity, Ataxia, Spastic paraparesis, Ab... ORPHA:254930
Dystonia 7, Torsion
Blepharospasm, Writer's cramp, Clumsiness, Torticollis, Hand tremor, Torsion dystonia, Oromandibu... OMIM:602124
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Poor fine motor coordination, Flexion contracture, Spastic ataxia, Seizure, Progressive spasticit... ORPHA:137898
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Cerebral cortical atrophy, Abnormal pyramidal sign, Resting tremor, Parkinsonism, Rig... OMIM:616840
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination ORPHA:431329
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Chorea, Spasticity, Seizure, Inability to walk, Ataxia, Hypopigmentation of hair, Dysphagia, Gene... ORPHA:70472
Developmental And Epileptic Encephalopathy 4
Generalized tonic seizure, Spastic tetraplegia, Generalized myoclonic seizure, Choreoathetosis, S... OMIM:612164
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology, Low anterior hairline, Highly arched eyebrow ORPHA:404440
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Parkinsonism, Apraxia, Agitation, Neuronal loss in central nervous sys... OMIM:607485
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Ataxia, Tremor, Cerebellar atrophy OMIM:616494
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Spastic paraplegia, Tremor, Difficulty walking, Broad-based gait ORPHA:477673
Sandhoff Disease, Infantile Form
Spasticity, Abnormal thalamic MRI signal intensity, Exaggerated startle response, Myoclonus ORPHA:309155
Piebaldism
Piebaldism, Synophrys, White eyelashes, White eyebrow, Ataxia, Hypopigmented skin patches, White ... ORPHA:2884
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... OMIM:172800
Developmental And Epileptic Encephalopathy 46
Generalized-onset seizure, Seizure, Limb hypertonia, Tremor, Cerebral atrophy, Dysphagia OMIM:617162
Autosomal Dominant Cerebellar Ataxia
Akinesia, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action tremor,... ORPHA:99
Cockayne Syndrome Type 3
Dry hair, Enamel hypoplasia, Flexion contracture, Brain atrophy, Premature graying of hair, Seizu... ORPHA:90324
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Gait ataxia, Myoclonic seizure, Brain atrophy, Focal-onset seizure, Myoclonus, Ataxia, Tremor, Hy... OMIM:619092
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Tremor, Cerebral atrophy, Dysphagia OMIM:618637
Adrenoleukodystrophy
Alopecia, Seizure, Truncal ataxia, Paraparesis, Limb ataxia, Incoordination, Spastic paraplegia, ... OMIM:300100
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Spasticity, Brain atrophy, Inability to walk, Seizure, Tremor OMIM:618718
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95513
Dopa-Responsive Dystonia
Inability to walk, Parkinsonism, Rigidity, Poor coordination, Oculogyric crisis, Abnormality of e... ORPHA:255
Neurodegeneration With Brain Iron Accumulation 2A
Abnormal pyramidal sign, Seizure, Spastic tetraplegia, Ataxia, Neuronal loss in central nervous s... OMIM:256600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar cyst, Agenes... OMIM:613153
Spinocerebellar Ataxia Type 1
Chorea, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morphology, Dysdiadoc... ORPHA:98755
Supranuclear Palsy, Progressive, 2
Retrocollis, Granulovacuolar degeneration, Gait imbalance, Falls, Postural tremor, Parkinsonism, ... OMIM:609454
Spinocerebellar Ataxia, Autosomal Recessive 7
Gait ataxia, Postural tremor, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Babinski sign,... OMIM:609270
Parkinson Disease 20, Early-Onset
Shuffling gait, Parkinsonism, Rigidity, Eyelid apraxia, Short stepped shuffling gait, Gait distur... OMIM:615530
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Spasticity, Abnormal thalamic MRI signal intensity ORPHA:485421
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Flexion contracture, Seizure, Inability to walk, Focal-onset seizure, Increased connective tissue... ORPHA:258
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity ORPHA:444013
Aicardi-Goutieres Syndrome 6
Rigidity, Loss of ambulation, Tremor, Dystonia OMIM:615010
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... ORPHA:79435
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Short stature, Hypopig... ORPHA:3437
Hyperphenylalaninemia, Bh4-Deficient, A
Seizure, Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Ataxia, Tremor, Hypertonia, Dy... OMIM:261640
Parkinson Disease 14, Autosomal Recessive
Spasticity, Ankle clonus, Resting tremor, Parkinsonism, Eyelid myoclonus, Eyelid apraxia, Upper l... OMIM:612953
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Tremor, Gait disturbance, Ataxia ORPHA:99014
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Gait imbalance, Seizure, Iris hypopigmentation, Hypopigmentation of... ORPHA:98795
Late-Infantile/Juvenile Krabbe Disease
Neuromuscular dysphagia, Febrile seizure (within the age range of 3 months to 6 years), Seizure, ... ORPHA:206443
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Gait ataxia, Spasticity, Seizure, Oculomotor apraxia, Status epilepticus, Dysmetria, Tremor, Bila... ORPHA:529665
Pyruvate Dehydrogenase Deficiency
Multiple lipomas, Spasticity, Abnormal pyramidal sign, Seizure, Cerebral palsy, Choreoathetosis, ... ORPHA:765
Spinocerebellar Ataxia, Autosomal Recessive 31
Seizure, Choreoathetosis, Ataxia, Tremor, Growth delay, Cerebral atrophy, Dysphagia, Dystonia OMIM:619422
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Wrist flexion contracture, Flexion contracture, Shuffling gait, Spastic tetraplegia... OMIM:300055
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Ataxia ORPHA:435638
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Chorea, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Attentio... OMIM:619725
Classic Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Blepharospasm, Falls, Akinesia, Parkinsonism, Gait imbalance, Parkinsoni... ORPHA:240071
Progeria-Short Stature-Pigmented Nevi Syndrome
Low posterior hairline, Alopecia, Abnormality of thalamus morphology, Hyperpigmented nevi ORPHA:2959
Progressive Supranuclear Palsy
Blepharospasm, Cerebral cortical atrophy, Falls, Rigidity, Neuronal loss in central nervous syste... ORPHA:683
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Blepharospasm, Torsion dystonia, Tremor OMIM:224500
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Abnormal pyramidal sign, Cerebellar hypoplasia, Eyelid myoclonus, Oculomotor apraxia, Incoordinat... OMIM:618060
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Gait ataxia, Flexion contracture, Myoclonus, Cerebellar gliosis, Babinski sign, Ataxia, Dysmetria... OMIM:616505
Spinocerebellar Ataxia, Autosomal Recessive 21
Gait ataxia, Spasticity, Limb ataxia, Tremor, Frequent falls OMIM:616719
Hyperphenylalaninemia, Bh4-Deficient, B
Seizure, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Dysphagia, Hyperkinetic movements, D... OMIM:233910
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Inability to walk, Writer's cramp, Torticollis, Babinski sign, Torsion dystonia, T... OMIM:128100
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Seizure, Spastic tetraplegia, Limb hypertonia, Multifocal seizures, Diffuse cerebral atrophy, Ata... OMIM:617710
Waardenburg Syndrome Type 1
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... ORPHA:894
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Seizure, Cerebral palsy, Limb hypertonia, Rigidity, Oculogyric crisis, Tremor, Growth delay, Dyst... ORPHA:70594
Dentatorubral Pallidoluysian Atrophy
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ... ORPHA:101
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Alexander Disease Type Ii
Spasticity, Rigidity, Palatal tremor, Cervical spinal cord atrophy, Ataxia, Babinski sign, Spasti... ORPHA:363722
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Ataxia OMIM:619046
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Hyperactivity, Gait imbalance, Seizure, Iris hypopigmentation, Myoc... ORPHA:98794
Mohr-Tranebjaerg Syndrome
Global brain atrophy, Ankle clonus, Abnormal pyramidal sign, Shuffling gait, Inability to walk, A... ORPHA:52368
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Gait ataxia, Chorea, Abnormal pyramidal sign, Inability to walk, Rigidity, Paraparesis, Babinski ... OMIM:607483
Hypermanganesemia With Dystonia 1
Poor fine motor coordination, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor functio... OMIM:613280
Glutathionuria
Dysdiadochokinesis, Tremor, Action tremor, Agenesis of corpus callosum OMIM:231950
Spastic Paraplegia 9B, Autosomal Recessive
Spasticity, Cerebral cortical atrophy, Short stature, Pseudobulbar paralysis, Gait disturbance, B... OMIM:616586
Neuronal Intranuclear Inclusion Disease
Rigidity, Tremor, Gait disturbance, Ataxia OMIM:603472
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Chorea, Truncal ataxia, Oculomotor apraxia, Limb ataxia, Ataxia, Loss of ambulation,... OMIM:208920
Jaberi-Elahi Syndrome
Gait ataxia, Sparse eyebrow, Cerebellar vermis atrophy, Inability to walk, Brittle hair, Appendic... OMIM:617988
Cerebrooculofacioskeletal Syndrome 1
Knee flexion contracture, Flexion contracture, Brain atrophy, Joint contracture of the hand, Seiz... OMIM:214150
Waisman Syndrome
Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Parkinsonism with favorable response to d... OMIM:311510
Gm2-Gangliosidosis, Ab Variant
Chorea, Myoclonic seizure, Exaggerated startle response, Abnormal pyramidal sign, Seizure, Paraly... OMIM:272750
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Fair hair, Blue irides, Red hair, Mild short stature, Intrauterine growth retardation OMIM:614613
Parkinson Disease 1, Autosomal Dominant
Global brain atrophy, Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Myoclonus, Gait dis... OMIM:168601
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral cortical atrophy, Short stature, Gait disturbance, Photosensitive myoclonic seizure, Tre... ORPHA:1192
Hsd10 Disease, Infantile Type
Restlessness, Frontotemporal cerebral atrophy, Spastic diplegia, Seizure, Poor coordination, Chor... ORPHA:391428
Spinocerebellar Ataxia 8
Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Cerebellar atrophy, Progressive cere... OMIM:608768
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon ORPHA:2570
Peroxisome Biogenesis Disorder 5B
Oculomotor apraxia, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:614867
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormality of extrapyramidal motor function, ... OMIM:614298
Joubert Syndrome 23
Cerebellar dysplasia, Dysplastic corpus callosum OMIM:616490
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Short stature, Upper limb spasticity, Gait disturbance, Bilateral tonic-clonic seizure, ... ORPHA:457240
Myopathy With Extrapyramidal Signs
Chorea, Hyperactivity, Seizure, Clumsiness, Abnormality of extrapyramidal motor function, Choreoa... OMIM:615673
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Rigidity, Substantia nigra gliosis, Short stepped shuffling gait, N... OMIM:168600
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Seizure, Iris hypopigmentation, Myoclonus, Ataxia, Tremor, Dysphagia ORPHA:97229
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Cerebral cortical atrophy, Generalized hypopigmentation of hair, Premature gra... ORPHA:3322
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Gait imbalance, Seizure, Iris hypopigmentation, Ataxia, Hypopigment... ORPHA:411511
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism