Gene Summary

Name:
attractin
Synonyms:
Mgca

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased grip strength Atrntm1.1(KOMP)Vlcg HOM Early adult 2.61×10-06
abnormal eye morphology Atrntm1.1(KOMP)Vlcg HOM Early adult 0.00
increased bone mineral content Atrntm1.1(KOMP)Vlcg HOM Early adult 5.35×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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 Not available
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 Not available
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 Not available
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 0.77% (4 of 517)
aorta 0.19% (1 of 522)
blood 0.0%
bone marrow 0.0%
brain 0.78% (4 of 512)
brainstem 0.4% (2 of 503)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cecum 3.37% (11 of 326)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.2% (1 of 497)
chest bone Unavailable
colon 10% (11 of 110)
diaphragm 0.0%
duodenum 1.87% (2 of 107)
epididymis 12.39% (14 of 113)
esophagus 1.41% (5 of 354)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.2% (1 of 510)
hindlimb 0.0%
hippocampus 0.58% (3 of 516)
hypothalamus 0.2% (1 of 509)
ileum 11.3% (13 of 115)
jejunum 3.81% (4 of 105)
kidney 3.02% (15 of 497)
large intestine 1.96% (10 of 511)
liver 0.0%
lower urinary tract 0.2% (1 of 502)
lung 0.39% (2 of 512)
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.2% (1 of 512)
ovary 0.19% (1 of 523)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.21% (1 of 480)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.4% (2 of 505)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.14% (11 of 515)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.19% (1 of 513)
small intestine 1.37% (7 of 511)
spinal cord 0.58% (3 of 518)
spleen 0.59% (3 of 511)
stomach 2.51% (13 of 517)
stomach pyloric region 0.0%
striatum 0.39% (2 of 510)
sublingual gland 0.0%
submandibular gland 0.85% (1 of 117)
testis 0.98% (5 of 511)
thymus 0.19% (1 of 513)
thyroid gland 3.08% (16 of 519)
tongue 4.72% (5 of 106)
trachea 0.59% (3 of 510)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.48% (12 of 345)
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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Occipital Hair, White Lock Of
Abnormal hair morphology, White hair OMIM:310900
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Cerebellar Ataxia And Albinism
Albinism, Head tremor, Ataxia OMIM:258300
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Cerebellar calcifications, Generalized dystonia, Thalamic calcification, Bradykines... OMIM:618824
Optic Atrophy 2
Babinski sign, Tremor, Dysdiadochokinesis OMIM:311050
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair, Ataxia, Intention tremor OMIM:190200
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Leukoencephalopathy With Dystonia And Motor Neuropathy
Intention tremor, Head tremor, Abnormality of thalamus morphology, Abnormal motor neuron morpholo... OMIM:613724
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormality of the basal ganglia, Dystonia, Spastic tetraplegia, Hypoplasia of the olfactory bulb... OMIM:618646
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Familial Infantile Bilateral Striatal Necrosis
Tetraparesis, Spastic tetraparesis, Frequent falls, Dystonia, Basal ganglia gliosis, Choreoatheto... ORPHA:225154
Coasy Protein-Associated Neurodegeneration
Parkinsonism, Abnormal caudate nucleus morphology, Eye of the tiger anomaly of globus pallidus, S... ORPHA:397725
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Gait disturbance, Abnormality ... OMIM:614561
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Phosphoserine Phosphatase Deficiency
Cerebral atrophy, Intrauterine growth retardation, Postnatal growth retardation, Seizure, Hypertonia OMIM:614023
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor OMIM:158580
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Astrocytosis, Rigidity, Cerebral cortical atrophy, Gait disturbance, Neuronal loss in c... OMIM:600795
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short stature, Hyperactivity DECIPHER:19
Neuroferritinopathy
Dystonia, Focal dystonia, Abnormal caudate nucleus morphology, Iron accumulation in globus pallid... ORPHA:157846
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Lower limb spasticity, Babinski sign ORPHA:401840
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Abnormal pons morphology, Cerebellar cortical atrophy, Progressiv... ORPHA:171622
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Apraxia, Ataxia, Spasticity, Leukoencephalopathy, Periventricular l... OMIM:615889
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:168100
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Cerebellar hypoplasia, Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Hypopla... OMIM:619072
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Tremor ORPHA:494526
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Abnormal pyramidal sign, Astrocytosis, Ataxia, Upper motor neuron dysfunction, ... ORPHA:204
Tremor, Hereditary Essential, 6
Kinetic tremor, Head tremor, Vocal tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Postural tremor, Tongue tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Inherited Creutzfeldt-Jakob Disease
Central nervous system degeneration, Abnormal pyramidal sign, Astrocytosis, Spastic dysarthria, G... ORPHA:282166
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Hypertonia, Cerebral cortical hemiatrophy, H... ORPHA:33445
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Astrocytosis, Fasciculations, Upper motor neuron dysfunction, Gait disturbance,... ORPHA:275864
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Postural tremor, Difficulty walking ORPHA:85292
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Progressive microcephaly, Ataxi... OMIM:617862
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor OMIM:617018
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Spastic gait, Agenesis of corpus callosum, Lower limb spasticity,... ORPHA:401820
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Tremor, Gait disturbance OMIM:300660
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Abnormal cerebellum morphology, Diffuse cerebral atrophy, Abnormality... OMIM:615362
Intellectual Developmental Disorder, Autosomal Recessive 4
Delayed myelination OMIM:611107
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, Apraxia, T2 hypointense thalamus, Basal ganglia calcification, Cerebral cortical... OMIM:618193
Spinocerebellar Ataxia Type 2
Abnormality of the spinocerebellar tracts, Kinetic tremor, Abnormal cortical gyration, Parkinsoni... ORPHA:98756
Spinocerebellar Ataxia Type 20
Cerebral calcification, Kinetic tremor, Cerebellar atrophy, Abnormal pyramidal sign, Isometric tr... ORPHA:101110
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Spinocerebellar Ataxia Type 38
Gait ataxia, Difficulty walking, Tremor ORPHA:423296
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Autosomal Recessive Spastic Paraplegia Type 69
Progressive spastic paraplegia, Hand tremor, Agenesis of corpus callosum, Spastic dysarthria, Low... ORPHA:401830
Progressive Non-Fluent Aphasia
Parkinsonism, Astrocytosis, Apraxia, Senile plaques, Temporal cortical atrophy, Frontotemporal ce... ORPHA:100070
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:600116
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Ataxia, Tremor OMIM:611105
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Bradykinesia, Rigidity, Spastici... OMIM:615528
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Glutathionuria
Tremor OMIM:231950
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Dystonia 23
Axial dystonia, Head tremor, Limb dystonia, Gait disturbance, Torticollis, Writer's cramp, Myoclonus OMIM:614860
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Dystonia, Hyperactivity, Ataxia, Spastic... OMIM:615924
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Focal Cortical Dysplasia, Type Ii
Focal impaired awareness seizure, Hemiparesis, Astrocytosis OMIM:607341
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Resting tremor, Gait disturbance OMIM:616710
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Cerebellar dysplasia, Cerebellar hypoplasia, Partial agenesis of the ... OMIM:604213
Spinocerebellar Ataxia 23
Cerebellar atrophy, Dysmetria, Agenesis of corpus callosum, Gait ataxia, Limb ataxia, Babinski si... OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 17
Truncal ataxia, Dysmetria, Tremor, Unsteady gait OMIM:616127
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair, Seizure, Incoordination, Gait ataxia OMIM:618808
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Motor stereotypy, Cerebellar hypoplasia, Hypoplasia of the brainstem, Lissencephaly, Ty... ORPHA:300570
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Action tremor, Parkinsonism, Intention tremor, Bradykinesia, Ataxia, Uns... ORPHA:98762
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Cogwheel rigidity, Gait disturbance, Limb dysmetria, Truncal ataxia, Falls, M... ORPHA:363710
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Dysmetria, Hyperactivity, Generalized myoclonic seizure, Inability to walk, R... OMIM:618090
Ermine Phenotype
White eyebrow, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White hair OMIM:227010
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Progressive microceph... ORPHA:521406
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Bradykinesia, Limb dystonia, Unsteady gait, Torticollis, P... ORPHA:210571
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... OMIM:607317
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Spastic paraparesis, Unsteady gait, Dysdiadochokinesis, Broad-based ... OMIM:616053
Primary Dystonia, Dyt2 Type
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... ORPHA:99657
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Pigmentary retinopathy, Spasticity, Seizure, Status epilepticus, Tremor OMIM:614307
Urocanase Deficiency
Fair hair, Blue irides, Ataxia, Tremor OMIM:276880
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Seizure, Myoclonus, Tremor OMIM:616187
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormal pyramidal sign, Agenesis of corpus callosum, Cerebellar cyst, Dilated fourth ventricle, ... ORPHA:370959
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Photosensitive myoclonic seizure, Astrocytosis, Ataxia, Slowed slurred speech, Focal motor seizure OMIM:172500
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Spastic paraparesis, Unsteady gait, Gait ataxia, Dysdiadochokinesis,... ORPHA:423275
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Familial Acute Necrotizing Encephalopathy
Cerebral edema, Abnormal putamen morphology, Spastic tetraplegia, Abnormal brainstem morphology, ... ORPHA:88619
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Unsteady gait, Limb ataxia, Spasticity, Truncal ataxia, Babinski sign, Ankle clonus OMIM:615768
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Short stature, Hypopigmentation of hair, Partial albinism ORPHA:90023
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Short stepped shuffling gait, Resting tremor, Shuffling gait, Bradykinesia, Rigidit... ORPHA:306692
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Frequent falls, Intention tremor, Spastic dysarthria, Unsteady gait, Nonprogressiv... ORPHA:314978
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia Type 35
Dysmetria, Intention tremor, Gait ataxia, Progressive cerebellar ataxia, Torticollis, Limb ataxia... ORPHA:276193
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Postural ... OMIM:128230
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Hemiplegia, Hemiparesis, Seizure, Tremor OMIM:141500
Corticobasal Syndrome
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Akinesia, Limb apraxia, Speech aprax... ORPHA:454887
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Tremor, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia, Broa... OMIM:270500
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Dysdiado... OMIM:610185
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Abnormal corpus callosum morphology, Abnormal caudate nucleus morphology, Age... ORPHA:300573
Diaminopentanuria
Spasticity, Seizure, Ataxia, Neurodegeneration OMIM:222350
Lichtenstein-Knorr Syndrome
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... OMIM:607624
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Dystonia, Oculogyric crisis, Generalized myoclonic seizure, Tremor, Focal-ons... ORPHA:330050
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Cach Syndrome
Abnormal pons morphology, Cerebellar atrophy, Dysmetria, Cerebral atrophy, Atrophy/Degeneration a... ORPHA:135
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Tremor OMIM:619561
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Seizure, Neurodegeneration OMIM:613068
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia, Tremor, Lower limb sp... ORPHA:251282
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Postural tremor, Rigidity, Gait disturbance, Babinski sign, Parkinsonism ... ORPHA:314632
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Tremor OMIM:615048
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebral atrophy, Cerebellar atrophy, Action tremor, Parkinsonism, Apraxia, Falls, Bradykinesia, ... OMIM:300423
Japanese Encephalitis
Opisthotonus, Dystonia, Cogwheel rigidity, Respiratory paralysis, Abnormality of extrapyramidal m... ORPHA:79139
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Spasticity, Cerebral cortical atrophy, Frontal upsweep of hair, Seizure, T... OMIM:300983
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Akinesia, Rigidity, Tremor OMIM:614203
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Myoclonic spasms, Motor stereotypy, Focal T2 ... ORPHA:79264
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... ORPHA:216873
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Hypoplasia of the brainstem, Thin corpus callosum, Myoclonus, Tremor OMIM:619651
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Dysmetria, Intention tremor, Lower limb spasticity, Ataxia, Unsteady gai... OMIM:616948
Spinocerebellar Ataxia 12
Cerebellar atrophy, Dysmetria, Parkinsonism, Action tremor, Axial dystonia, Head tremor, Progress... OMIM:604326
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Rigidity, Myoclonus, Focal T2 hyperintense thalamic lesion OMIM:619057
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized hirsutism, Tetraparesis, Abnormal pyramidal sign, Cerebral atrophy, Caudate atrophy, ... ORPHA:363400
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Cerebellar atrophy, Generalized myoclonic seizure, Ataxia, Pigmentary retinopat... OMIM:610951
Aceruloplasminemia
Parkinsonism, Dystonia, Abnormal thalamic MRI signal intensity, Blepharospasm, Involuntary moveme... ORPHA:48818
Behr Syndrome
Dysmetria, Ataxia, Progressive spasticity, Gait disturbance, Babinski sign, Tremor OMIM:210000
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure... OMIM:615400
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... OMIM:300894
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Ataxia, Unsteady gait, Gait ataxia, Spasticity, Limb ataxia, Tremor OMIM:213200
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Tetraparesis, Cerebral atrophy, Abnormal corpus callosum morphology, Periventricular cysts, Abnor... ORPHA:255182
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Spinocerebellar Ataxia 18
Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Acute Disseminated Encephalomyelitis
Cerebral edema, Abnormal pyramidal sign, Abnormality of the basal ganglia, Abnormal thalamic MRI ... ORPHA:83597
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Degeneration of anterior horn cells, Astrocytosis OMIM:600333
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Spinocerebellar Ataxia Type 28
Kinetic tremor, Parkinsonism, Dystonia, Head tremor, Limb dystonia, Gait ataxia, Rigidity, Spasti... ORPHA:101109
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Abnormal pyramidal sign, Parkinsonism, Dystonia, Cerebellar atrophy, Ataxia, Ri... OMIM:617672
Aicardi-Goutieres Syndrome 6
Loss of ability to walk, Rigidity, Dystonia, Tremor OMIM:615010
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Ataxia, Melanin pigment... OMIM:256710
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized myoclonic seizure, Tremor, Ataxia, Gait ataxia, Generalized non-motor (absence) seizu... OMIM:617831
Leigh Syndrome With Cardiomyopathy
Dystonia, Abnormal caudate nucleus morphology, Basal ganglia gliosis, Hypertrichosis, Abnormal br... ORPHA:70474
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Frequent falls, Dysmetria, Dystonia, Agenesis of corpus callosum, Intention tremor, Gait ataxia, ... ORPHA:453521
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Short stepped shuffling gait, Dystonia, Shuffling gait, Resting tremor, ... ORPHA:391411
Dystonia 12
Parkinsonism, Dystonia, Bradykinesia, Unsteady gait, Torticollis, Tremor OMIM:128235
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Myoclonic spasms, Dystonia, Generalized-onset se... ORPHA:79263
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Atonic seizure, Generalized-onset seizure, Generalized cerebral atrophy/hypoplasi... ORPHA:36387
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Ataxia, Tremor OMIM:616421
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Small nail, Spastic tetraparesis, Hyperactivity, Elbow flexion contracture, Seizure, Broad-based ... OMIM:619470
Huntington Disease
Cerebellar atrophy, Bradykinesia, Gait ataxia, Rigidity, Chorea, Gliosis, Neuronal loss in centra... OMIM:143100
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Tremor, Gait ata... OMIM:618587
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Abnormal pyramidal sign, Cerebral dysmyelination, Abnormal cerebellum morph... ORPHA:101070
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Focal-onset seizure, Paroxysmal dystonia, Seizure, Writer's cram... OMIM:608105
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis, Tremor ORPHA:66633
Leigh Syndrome
Dystonia, Frontal hirsutism, Olivopontocerebellar atrophy, Athetosis, Hypertrichosis, Abnormality... ORPHA:506
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Frequent falls, Atonic seizure, Waddling gait, Generalized myoclonic seizure, I... ORPHA:2590
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Ataxia, Difficulty walking, Generalized non-motor (absence) seizure, Seizure, Myo... OMIM:614018
Cln5 Disease
Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the central nervous system, General... ORPHA:228360
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Generalized-onset seizure, Fasciculations, Generalized myoclonic seizure, Degener... OMIM:159950
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Ataxia, Gait ataxia, Leukoencephalopathy, Tremor OMIM:618387
Lopes-Maciel-Rodan Syndrome
Cerebral atrophy, Abnormal pyramidal sign, Hypertonia, Dystonia, Cerebellar atrophy, Caudate atro... OMIM:617435
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Lower limb spasticity, Spastic paraplegia, Degeneration of the lateral corticospina... OMIM:600363
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Paralysis, Cerebellar atrophy, Astrocytosis, Status epilepticus, Ataxia, Gliosis, Neu... OMIM:203700
Monomelic Amyotrophy
Fasciculations, Degeneration of anterior horn cells, Tremor ORPHA:65684
Urocanic Aciduria
Action tremor, Ataxia, Gait ataxia, Truncal ataxia, Broad-based gait ORPHA:210128
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spinocerebellar Ataxia 17
Cerebellar atrophy, Dysmetria, Dystonia, Parkinsonism, Intention tremor, Apraxia, Bradykinesia, A... OMIM:607136
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Atrophy/Degeneration affecting the brainstem, Spastic tetraparesis, Dysmetria, Dystonia, Cerebell... OMIM:612319
Beta-Propeller Protein-Associated Neurodegeneration
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... ORPHA:329284
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short stature, Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Myoclonic absence seizure, Generalized myoclonic seizure, Bradykinesia, Ataxia, Short s... OMIM:617836
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Dystonia, Oculomotor apraxia, Ataxia, Gait disturbance, Gait ... OMIM:617145
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Hyperactivity, Growth delay, Ataxia, Spasticity, Oculomotor apraxia, S... OMIM:612716
Spinocerebellar Ataxia Type 14
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Limb ataxia, Myoclonus, Tremor ORPHA:98763
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Action tremor, Poor coordination, Ataxia, Broad-based gait, Focal motor seizur... OMIM:617665
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Seizure, Difficulty walking, Astrocytosis OMIM:611087
Autosomal Spastic Paraplegia Type 58
Abnormal pyramidal sign, Dysmetria, Frequent falls, Titubation, Intention tremor, Fasciculations,... ORPHA:397946
Myopathy, Spheroid Body
Waddling gait, Broad-based gait, Tremor OMIM:182920
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair, Athetosis, Growth delay OMIM:257800
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Cerebellar atrophy, Dystonia, Focal T2 hypointense basal ganglia lesion,... ORPHA:139485
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Tremor OMIM:615127
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Alzheimer Disease 3
Neurofibrillary tangles, Spastic tetraparesis, Dystonia, Apraxia, Cerebral cortical atrophy, Babi... OMIM:607822
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Dystonia, Choreoathetosis, Ataxia, Short stature, Rigidity, Spasticity, Seizu... OMIM:612438
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Hyperphenylalaninemia, Bh4-Deficient, C
Cerebral calcification, Dystonia, Choreoathetosis, Tremor, Microcephaly, Myoclonus, Hypertonia OMIM:261630
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Abnormality of thalamus morphology, Abnormality of the frontal hairli... ORPHA:557003
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Lower limb spasticity, Ataxia, Impaired tandem gait, Myoclonus, Tremor OMIM:619028
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Short stature, Seizure, Tremor OMIM:614947
Spinocerebellar Ataxia 7
Dysmetria, Progressive cerebellar ataxia, Pigmentary retinopathy, Spasticity, Chorea, Babinski si... OMIM:164500
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Hand tremor, Resting tremor, Shuffling gait, Parkinsonism with ... ORPHA:53351
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Cerebellar atrophy, Ataxia, Seizure, Myoclonus, Tremor OMIM:612016
Spinocerebellar Ataxia, X-Linked 4
Abnormal pyramidal sign, Ataxia, Tremor OMIM:301840
Hsd10 Disease
Choreoathetosis, Spastic paraparesis, Ataxia, Rigidity, Gait disturbance, Postnatal growth retard... ORPHA:391417
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor OMIM:613608
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormality of the basal ganglia, Abnormal brainste... ORPHA:99852
Spinocerebellar Ataxia Type 17
Atrophy/Degeneration affecting the brainstem, Abnormal pyramidal sign, Cerebellar atrophy, Parkin... ORPHA:98759
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Inability to walk, Tongue fasciculations, Gait disturbance, Tremor ORPHA:276435
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Rhombencephalosynapsis, Spastic tetraplegia, Cerebellar hyp... OMIM:619306
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Apraxia, Spastic parap... OMIM:615157
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Involuntary movements, Bradykinesia, Limb dystonia, Laryng... OMIM:612067
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Dysdiadochokinesis, Bradykinesia, Athetosis, Rig... OMIM:213600
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Abnormal pyramidal sign, Parkinsonism, Focal dystonia, Extrapyramidal muscular ... ORPHA:99750
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles OMIM:605055
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Dysmetria, Oculomotor apraxia, Progressive cerebellar ataxia, Progressive gait ataxia, Babinski s... ORPHA:284324
Oculocutaneous Albinism Type 3
White eyebrow, Hypopigmentation of the skin, Blue irides, White eyelashes, Freckling, Iris hypopi... ORPHA:79433
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Dysmetria, Atonic seizure, Apraxia, Inability to walk, Gait ataxia, Spasticit... OMIM:617810
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic tetraplegia, Spastic paraparesis, Bradykinesia, Tip-toe gait, Gait disturbance,... OMIM:615643
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... OMIM:607671
Alzheimer Disease 2
Long-tract signs, Neurofibrillary tangles, Parkinsonism OMIM:104310
Classic Phenylketonuria
Hypopigmentation of hair, Hypertonia, Hypopigmentation of the skin, Growth delay, Hemiplegia, Par... ORPHA:79254
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Dysmetria, Cerebellar atrophy, Inability to walk, Ataxia, Gait ataxia, S... OMIM:614831
Spinocerebellar Ataxia Type 27
Hand tremor, Akinesia, Gait ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Difficulty wal... ORPHA:98764
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Spasticity, Hypoplasia of the corpus callosum, Myoclonus, Tremor OMIM:616494
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Abnormal eyelash morp... ORPHA:2885
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Atrophy/Degeneration involving the spinal cord, Abnormal cerebellar cortex morphology, Gait ataxi... ORPHA:70595
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Short stature ORPHA:2786
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Oromandibular dys... OMIM:613135
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Cerebellar atrophy, Contractures of the large joints, Short stature, Postnatal growth retardation... OMIM:608278
Tay-Sachs Disease
Incoordination, Ankle clonus, Cerebellar atrophy, Dysmetria, Dystonia, Frequent falls, Decerebrat... ORPHA:845
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles in sun-ex... OMIM:203200
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Cerebellar vermis atrophy, Ataxia, Gait ... ORPHA:1170
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Neurofibrillary tangles, Dysmetria, Dystonia, Cerebellar atrophy, Neurodegenera... OMIM:610217
Gerstmann-Straussler Disease
Neurofibrillary tangles, Cerebellar atrophy, Parkinsonism, Apraxia, Bradykinesia, Gait ataxia, Tr... OMIM:137440
Atypical Rett Syndrome
Hand apraxia, Dystonia, Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involuntary mo... ORPHA:3095
Alzheimer Disease, Familial, 1
Long-tract signs, Neurofibrillary tangles, Parkinsonism OMIM:104300
Spastic Paraplegia 79, Autosomal Recessive
Tetraparesis, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Flexion contracture, Neurodegenera... OMIM:615491
Spastic Paraplegia 78, Autosomal Recessive
Abnormal pyramidal sign, Cerebellar atrophy, Parkinsonism, Resting tremor, Spastic tetraplegia, B... OMIM:617225
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Delayed myelination OMIM:618339
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance ORPHA:101075
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Tremor OMIM:619099
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Ataxia, Spasticity, Infantile spasms, Tremor OMIM:278780
Familial Dyskinesia And Facial Myokymia
Dystonia, Resting tremor, Limb hypertonia, Chorea, Difficulty walking, Myoclonus ORPHA:324588
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology, Long eyelashes, Highly arched eyebrow, Simplified gyral pattern, A... ORPHA:411493
Spinocerebellar Ataxia 48
Dysmetria, Dystonia, Parkinsonism, Ataxia, Gait ataxia, Chorea, Babinski sign, Tremor OMIM:618093
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperactivity, Ataxia, Iris hypopigmentat... ORPHA:411515
Dravet Syndrome
Photosensitive myoclonic seizure, Action tremor, Global brain atrophy, Focal aware seizure, Febri... ORPHA:33069
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Parkinsonism, Resting tremor, Bradykinesia, Craniofacial dystonia, Limb dysto... ORPHA:71517
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Dilated third ventricle, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Sp... ORPHA:363654
Rhombencephalosynapsis
Fusion of the left and right thalami, Septo-optic dysplasia, Ataxia, Fusion of the cerebellar hem... ORPHA:59315
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Abnormal basa... ORPHA:363558
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, Cerebellar atrophy, Frequent falls, Spastic tetraplegia, Hyperintensity of cere... ORPHA:1947
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Abnormal brainstem morphology, Ataxia, Ocular albinism, White ha... ORPHA:2720
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots, Ataxia, Short s... ORPHA:100
Glut1 Deficiency Syndrome 2
Choreoathetosis, Dystonia, Ataxia, Tremor OMIM:612126
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsiness, Frontotemporal c... OMIM:612953
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Ataxia, Abnormal cerebellum morphology, Toenail dysplasia, Alopeci... ORPHA:1532
Combined Oxidative Phosphorylation Defect Type 7
Abnormal pyramidal sign, Spastic paraparesis, Ataxia, Abnormal brainstem MRI signal intensity, Hy... ORPHA:254930
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity... ORPHA:240085
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Ataxia, Rigidity, Tremor OMIM:261640
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal pons morphology, Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Intention tremo... ORPHA:98
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... ORPHA:240103
Griscelli Syndrome Type 1
Premature graying of hair, Ataxia, Partial albinism, White hair, Iris hypopigmentation, Seizure, ... ORPHA:79476
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Gabriele-De Vries Syndrome
Waddling gait, Dystonia, Tremor OMIM:617557
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Ataxia, Gait ataxia, Spasticity, Tremor OMIM:616719
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance ORPHA:101078
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Inability to walk, Gait disturbance, Difficulty walking, Tremor ORPHA:101077
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Limb dystonia, Vocal tremor, Torticollis, Upper limb postural tremor,... ORPHA:420485
Combined Oxidative Phosphorylation Deficiency 45
Seizure, Ataxia, Tremor OMIM:618951
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Cerebellar vermis atrophy... ORPHA:77299
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Aplasia/Hypoplasia of the corpus callosum, Hydranencephaly, Micr... ORPHA:2570
Spinocerebellar Ataxia 15
Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
4H Leukodystrophy
Cerebellar atrophy, Dysmetria, Dystonia, Hypoplasia of the corpus callosum, Hyperintensity of cer... ORPHA:289494
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Congenital diaphragmatic hernia, Absent pubertal growth spurt, Gait ataxia, S... ORPHA:438134
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Spasticity, Abnormal basal ganglia MRI signal intensity, Secondary microcepha... ORPHA:485421
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles OMIM:601706
Albinism-Deafness Syndrome
Patchy hypo- and hyperpigmentation, Albinism, Piebaldism, Partial albinism OMIM:300700
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Cerebellar hypoplasia, Pontocerebellar... OMIM:618060
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Cerebellar cyst, Dilated fourth ventricle, Abnormal brainstem morphology, I... ORPHA:370022
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Tremor OMIM:601068
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Dystonia, Bradykinesia, Hemiparesis, Difficulty walking, Tremor ORPHA:306669
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:277580
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebral atrophy, Cerebellar atrophy, Hypertonia, Abnormal cerebellum morphology, Progressive cer... ORPHA:137898
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Abnormal pyramidal sign, Dystonia, Neurodegeneration, Short stature, Chorea, Ex... ORPHA:309246
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenesis of the cerebell... OMIM:617751
Jaberi-Elahi Syndrome
Cerebellar atrophy, Dysmetria, Dystonia, Agenesis of corpus callosum, Choreoathetosis, Sparse eye... OMIM:617988
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Cerebellar dysplasia, Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Dand... OMIM:613153
Xeroderma Pigmentosum, Complementation Group F
Flexion contracture, Numerous pigmented freckles, Ataxia, Short stature, Brain atrophy, Tremor OMIM:278760
Hypermanganesemia With Dystonia 2
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Opisthotonus, Dystonia, General... OMIM:617013
Mitochondrial Myopathy With Lactic Acidosis
Dysmetria, Dystonia, Growth delay, Spasticity, Hemiparesis, Tip-toe gait, Postnatal growth retard... OMIM:251950
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Generalized dystonia, Intention tremor, Cereb... OMIM:312080
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hemiballismus, Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Inability to walk, Bradykines... OMIM:618877
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hypopigmentation of the skin, Growth delay, Increased adipose tissue, Dela... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hypopigmentation of the skin, Growth delay, Increased adipose tissue, Dela... ORPHA:71526
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Clonus, Nonprogressive cerebellar ataxia, Dysdiadochokinesis, Babins... OMIM:301310
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy, Ataxia, Motor stereotypy ORPHA:435638
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, Ataxia, Laryngeal dystonia,... OMIM:606159
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Action tremor, Dysmetria, Atonic seizure, Frequent falls, Apraxia, Extrapyram... ORPHA:93952
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Ataxia, Titubation, Tremor OMIM:619405
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal pyramidal sign, Neurofibrillary tangles, Parkinsonism, Resting tremor, Limb dystonia, Le... OMIM:616840
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Parkinsonism, Dystonia, Shuffling gait, Oculogyric crisis, Gait ataxia, Tremor OMIM:618049
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity, Abnormal basal g... ORPHA:444013
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysmetria, Dystonia, Dysdiadochokinesis, Hypertonia, Abnormality of reti... ORPHA:96
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Achilles tendon contracture, Cerebellar atrophy, Frequent falls, Dysmetria, Hand ... OMIM:302800
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Rigidity OMIM:605909
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Dystonia, Bradykinesia, Spastic paraplegia, Akinesia, Ataxia, Parapares... OMIM:606693
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Blepharospasm, Bradykinesia, Leg dystonia, Rigidity, Postural tremor, Parkinsonis... OMIM:606324
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Progressive cerebellar ataxia, Rigidity, Abnormality of extrapyramidal mot... ORPHA:98773
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Spastic gait, Ataxia, Unsteady gait, Babinski sign, Spastic ataxia, Tremor OMIM:616795
Autosomal Recessive Spastic Paraplegia Type 23
Spastic gait, Vitiligo, Waddling gait, Spastic paraplegia, Short stature, Silver-gray hair, Multi... ORPHA:101003
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Involuntary movements, Status epilepticus, Limb hypertonia, Ataxia, Unsteady ga... ORPHA:442835
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Action tremor, Dystonia, Parkinsonism, Cerebellar atrophy, Global brain atrophy, Grow... OMIM:619738
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Shuffling gait, Hyperactivity, Lower limb spasticity, Short stature... ORPHA:3077
Dystonia 34, Myoclonic
Hand tremor, Dystonia, Head tremor, Impaired tandem gait, Torticollis, Writer's cramp, Myoclonus OMIM:619724
Brain Dopamine-Serotonin Vesicular Transport Disease
Spastic tetraparesis, Hypertonia, Dystonia, Dysdiadochokinesis, Shuffling gait, Oculogyric crisis... ORPHA:352649
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Action tremor, Generalized-onset seizure, Intention tremor, Gait ataxia, Post... OMIM:254900
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity... OMIM:619725
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination ORPHA:431329
Adult-Onset Cervical Dystonia, Dyt23 Type
Focal dystonia, Axial dystonia, Head tremor, Craniofacial dystonia, Unsteady gait, Limb tremor, T... ORPHA:420492
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology, Low anterior hairline, Highly arched eyebrow ORPHA:404440
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Action tremor, Dystonia, Astrocytosis, Spastic paraparesis, Bradykinesia, Gait disturbance, Rigid... ORPHA:309854
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Steppage gait, Spasticity, Babinski sign, Hypertonia OMIM:609260
Spinocerebellar Ataxia 2
Action tremor, Spinocerebellar tract degeneration, Dysmetria, Dilated fourth ventricle, Parkinson... OMIM:183090
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Focal-onset seizure, Ataxia, Gait ataxia, Bilateral tonic-clonic seizure with general... OMIM:619092
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Atypical absence seizure, Hypopigmentation of the skin, Tongue thrustin... ORPHA:98795
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar hypoplasia, Cerebellar dysplasia, Perisylvian polymicrogyria, Cerebellar vermis hypopl... OMIM:616531
Poretti-Boltshauser Syndrome
Cerebellar dysplasia, Cerebellar cyst, Dilated fourth ventricle, Abnormal periventricular white m... OMIM:615960
Myoclonic-Astatic Epilepsy
Abnormal pyramidal sign, Atonic seizure, Hyperactivity, Generalized myoclonic seizure, Frontal ba... ORPHA:1942
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormality of retinal pigmen... ORPHA:897
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Spasticity, Seizure, Brain atrophy, Tremor OMIM:618718
Dystonia 7, Torsion
Torsion dystonia, Hand tremor, Blepharospasm, Torticollis, Clumsiness, Writer's cramp, Oromandibu... OMIM:602124
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Resting tremor, Involuntary movements, Ataxia, Progressive extrapyramidal movement diso... ORPHA:401768
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraplegia, Ataxia, Unste... OMIM:256600
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Babinski sign, Difficulty walking, Broad-based gait, Tremor ORPHA:477673
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Tremor, Ataxia, Gait disturbance ORPHA:99014
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... OMIM:172800
Dopa-Responsive Dystonia
Parkinsonism, Dystonia, Generalized dystonia, Oculogyric crisis, Inability to walk, Leg dystonia,... ORPHA:255
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Cockayne Syndrome Type 3
Premature graying of hair, Flexion contracture, Astrocytosis, Intention tremor, Enamel hypoplasia... ORPHA:90324
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Dystonia, Long eyelashes, Thick eyebrow, Spastic diplegia, Lipoma, Synophrys, Postnatal growth re... ORPHA:480907
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Dysmetria, Oculomotor apraxia, Gait ataxia, Spasticity, Difficulty walking, B... ORPHA:529665
Progeria-Short Stature-Pigmented Nevi Syndrome
Hyperpigmented nevi, Microcephaly, Abnormality of thalamus morphology, Alopecia, Low posterior ha... ORPHA:2959
Early-Onset Autosomal Dominant Alzheimer Disease
Neurofibrillary tangles, Parkinsonism, Apraxia, Ataxia, Cerebral cortical atrophy, Oculomotor apr... ORPHA:1020
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, Pigmentary retinopathy, Abno... ORPHA:99
Adrenoleukodystrophy
Incoordination, Neurodegeneration, Spastic paraplegia, Paraparesis, Truncal ataxia, Hyperpigmenta... OMIM:300100
Spinocerebellar Ataxia Type 1
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Dystonia, Abnormal b... ORPHA:98755
Spinocerebellar Ataxia, Autosomal Recessive 31
Cerebral atrophy, Dystonia, Choreoathetosis, Cerebellar hypoplasia, Ataxia, Posterior atrophy of ... OMIM:619422
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Tremor OMIM:618637
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Tremor, Tetraplegia, Spasticity, Gait disturbance, Babinski sign, Pseudobulba... OMIM:616586
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Dystonia, Resting tremor, Parkinsonism, Choreoathetosis, Apraxia, Spastic tetrapleg... OMIM:300055
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Hypoplasia of the corpus callosum, Tremor OMIM:616668
Pyruvate Dehydrogenase Deficiency
Multiple lipomas, Abnormal pyramidal sign, Dystonia, Intrauterine growth retardation, Choreoathet... ORPHA:765
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Ataxia, Focal T2 hyperintense thalamic lesion OMIM:619046
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Abnormality of retinal pigmentation, Albinism, Hypopigmentation of the ... ORPHA:79435
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Generalized dystonia, Inability to walk, Ataxia, Spasticity, Chorea, Se... ORPHA:70472
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Panhypopituitarism, Increased circulat... ORPHA:95512
Developmental And Epileptic Encephalopathy 4
Cerebral atrophy, Spastic tetraplegia, Generalized myoclonic seizure, Spastic paraplegia, General... OMIM:612164
Vogt-Koyanagi-Harada Disease
Premature graying of hair, Hypopigmented skin patches, Vitiligo, Abnormal eyelash morphology, Pol... ORPHA:3437
Hydranencephaly
Atrophic pituitary gland, Opisthotonus, Dysgenesis of the thalamus, Hypoplastic hippocampus, Prim... ORPHA:2177
Adult-Onset Dystonia-Parkinsonism
Neurofibrillary tangles, Dystonia, Focal dystonia, Parkinsonism with favorable response to dopami... ORPHA:199351
Supranuclear Palsy, Progressive, 1
Neurofibrillary tangles, Parkinsonism, Axial dystonia, Falls, Bradykinesia, Akinesia, Limb dyston... OMIM:601104
Classic Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240071
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dysmetria, Dystonia, Abnormal pyramidal sign, Hypoplasia of the corpus callos... OMIM:614381
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Polymicrogyr... OMIM:615181
3-Methylglutaconic Aciduria, Type Viii
Cerebral atrophy, Dystonia, Tremor, Growth delay, Seizure, Hypertonia OMIM:617248
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Dysmetria, Hypertonia, Abnormal cerebellum morphology, Gait ataxia, Microceph... OMIM:618056
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Blepharospasm, Torticollis, Tremor OMIM:224500
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Short stature, Gait disturbance, Gliosis, Bilateral tonic-clonic seizure, Upper... ORPHA:457240
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Dysmetria, Flexion contracture, Cerebellar atrophy, Intention tremor, Ataxia, Steppag... OMIM:616505
Late-Infantile/Juvenile Krabbe Disease
Frequent falls, Spastic diplegia, Spastic paraparesis, Lower limb spasticity, Ataxia, Febrile sei... ORPHA:206443
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tetraparesis, Cerebral edema, Ataxia, Cerebellar edema, Myelopathy, Leukoencephalopathy, Tremor OMIM:617186
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Flexion contracture, Astrocytosis, Pontocerebellar atrophy, Inability to walk, Focal-onset seizur... ORPHA:258
Spinocerebellar Ataxia Type 42
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Spastic gait, Resting tremor, C... ORPHA:458803
Dentatorubral Pallidoluysian Atrophy
Dysmetria, Action tremor, Choreoathetosis, Blepharospasm, Involuntary movements, Ataxia, Progress... ORPHA:101
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperactivity, Ataxia, Recurrent hand fla... ORPHA:98794
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Limb fasciculations, Tremor ORPHA:90117
Supranuclear Palsy, Progressive, 2
Neurofibrillary tangles, Parkinsonism, Axial dystonia, Falls, Bradykinesia, Akinesia, Neuronal lo... OMIM:609454
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Intrauterine growth retardation, Hyperactivity, Mild short stature, Blue irides, Red hair OMIM:614613
Alzheimer Disease 9, Susceptibility To
Neurofibrillary tangles, Senile plaques, Hippocampal atrophy, Cerebral cortical atrophy, Abnormal... OMIM:608907
Hypermanganesemia With Dystonia 1
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Steppage gait, Rigidity, Poor fine mot... OMIM:613280
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Tetraparesis, Abnormal pyramidal sign, Action tremor, Opisthotonus, Dystonia, Frequent falls, Ina... OMIM:607483
Adult Krabbe Disease
Tetraparesis, Abnormal pons morphology, Abnormal corpus callosum morphology, Frequent falls, Abno... ORPHA:206448
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Short stature ORPHA:177910
Proximal 16P11.2 Microduplication Syndrome
Sparse eyebrow, Congenital diaphragmatic hernia, Abnormality of the hairline, Short stature, Spar... ORPHA:370079