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Gene: Fuca1 MGI:95593

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Gene Summary

Name:
fucosidase, alpha-L- 1, tissue
Synonyms:
9530055J05Rik,  0610006A03Rik,  Afuc

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
abnormal auditory brainstem response Fuca1em1(IMPC)J HOM   Early adult 5.44×10-06
decreased exploration in new environment Fuca1em1(IMPC)J HOM   Early adult 3.06×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 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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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Fuca1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Fuca1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Cerebral atrophy, Oligosacchariduria, ... OMIM:230000
Fucosidosis
Hepatomegaly, Cardiomegaly, Abnormal pyramidal sign, Spastic tetraplegia, Mucopolysacchariduria, ... ORPHA:349

The table below shows human diseases predicted to be associated to Fuca1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Confusion, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Dement... ORPHA:204
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Hypercholesterolemia, Decre... OMIM:208920
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Urinary incontinence, Rigidity, Frontotemporal dementia, Babinski sign, Astrocytosis, Gait distur... OMIM:600795
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Inherited Creutzfeldt-Jakob Disease
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... ORPHA:282166
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, Optic atr... ORPHA:225154
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Hand... OMIM:604484
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity OMIM:611105
Sandhoff Disease, Adult Form
Reduced beta-hexosaminidase activity, Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dyston... ORPHA:309169
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... OMIM:617018
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner... OMIM:302800
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Axonal degeneration, Impaired distal vibration sensation, Distal ... OMIM:614436
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Resting tremor, A... OMIM:617225
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Aplasia/Hypoplasia of the cerebellum, Tremor, Abnormal pyramidal sign, Clumsiness, Dement... ORPHA:79262
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Confusion, Tremor, Babinski sign, Gait atax... OMIM:615362
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal dementia, Astrocytosis, Frontotemporal cerebral atrophy, Gait disturbance, Fascicu... ORPHA:275864
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, My... OMIM:615924
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Spinocerebellar Ataxia 17
Diffuse cerebral atrophy, Urinary incontinence, Chorea, Dysmetria, Gait ataxia, Gliosis, Intentio... OMIM:607136
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity ORPHA:217012
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... OMIM:615957
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... OMIM:616053
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Mental deterioration OMIM:616187
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Limb dystonia, Axial dystonia, Parkinsonism, Akinesia, Neurofibrillary tangles, T... OMIM:601104
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Cognitive impairment, Dystonia, Memory... ORPHA:401901
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Urinary incontinence, Tremor, Oculomotor apraxia, Abnormal pyramidal ... OMIM:617145
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Dystonia, Ataxia, Incr... ORPHA:79263
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Cognitive impairment, Astrocytosis OMIM:607341
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Decreased testicular size, Ataxia, Chorea, Axonal degeneration, B... OMIM:604168
Basal Ganglia Calcification, Idiopathic, 1
Urinary incontinence, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykines... OMIM:213600
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... OMIM:611302
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Neurofibrillary tangles, Frontotemporal dem... ORPHA:100070
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Fal... ORPHA:363710
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abn... OMIM:607317
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Mitochondrial Dna Depletion Syndrome 18
Clonus, Axonal degeneration, Lacticaciduria, Falls, Tongue fasciculations OMIM:618811
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Loss of Purkinje cells ... OMIM:616795
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... OMIM:214400
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... OMIM:601596
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Dementia, Gliosis, Neuronal loss... OMIM:143100
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... ORPHA:98856
3-Methylglutaconic Aciduria, Type Iii
Ataxia, Chorea, Babinski sign, Optic atrophy, 3-Methylglutaric aciduria, 3-Methylglutaconic acidu... OMIM:258501
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Urinary incontinence, Parkinsonism, Tremor, Chorea, Babinski sign, Dy... OMIM:618093
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia... OMIM:607458
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Frontal lobe dement... OMIM:221820
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Tremor, Babinski sign, Optic atrophy, Dis... OMIM:609260
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Clonus, Degeneration of the lateral corticospinal tr... OMIM:600363
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... OMIM:213200
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... ORPHA:251282
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cafe-au-lait... OMIM:616291
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Pigmentar... OMIM:164500
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Axonal degeneration, Gait disturbance, Distal sensory impairment OMIM:616155
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Optic atrophy,... ORPHA:33445
Autosomal Recessive Spastic Paraplegia Type 46
Urinary incontinence, Abnormal pyramidal sign, Spastic dysarthria, Head tremor, Ataxia, Upper lim... ORPHA:320391
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Alzheimer Disease 3
Dystonia, Spastic tetraparesis, Neurofibrillary tangles, Babinski sign, Dementia, Gait disturbanc... OMIM:607822
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Urinary incontinence, Ba... OMIM:614409
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired distal proprioception, Tremor, Impaired vibration sensation in the lower limbs, Hyperton... ORPHA:137898
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... OMIM:602433
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Clumsiness, Focal... ORPHA:216873
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Cogn... OMIM:615157
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... OMIM:600116
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... ORPHA:314632
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... ORPHA:98764
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Ataxia, A... OMIM:203700
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... ORPHA:314978
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Optic atrophy, Abnorma... OMIM:236792
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... OMIM:610185
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Neurofibrillary tangles, Tremor, Rigidity, Limb ataxia, Gait at... OMIM:137440
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy OMIM:612437
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Short attention span, Ataxia, Tremor, Rigidity, Optic atr... ORPHA:391417
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Trem... ORPHA:454887
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Ataxia, Truncal titubation, Axonal degeneration, Impaire... ORPHA:88628
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Short attention span, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impai... OMIM:619028
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal ... OMIM:618387
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Distal sen... OMIM:616719
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... ORPHA:1170
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Intentio... OMIM:302500
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Impaired vibration sensation at ank... ORPHA:90103
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb... OMIM:618369
Urocanase Deficiency
Broad-based gait, Ataxia, Urocanic aciduria, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Writer's ... ORPHA:98759
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... OMIM:128230
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Memory impa... OMIM:620158
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Abnormal circulating enzyme concentration or activity, Wa... ORPHA:2590
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... OMIM:607346
Huntington Disease-Like 2
Rigidity, Chorea, Subcortical dementia, Bradykinesia, Dementia, Dystonia, Memory impairment, Cere... OMIM:606438
Spinocerebellar Ataxia 2
Urinary incontinence, Dysmetria, Urinary bladder sphincter dysfunction, Impaired vibratory sensat... OMIM:183090
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce... ORPHA:521406
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Limb apraxia, Involunt... ORPHA:240103
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Frontotemporal dementia, Athetosis, Axonal loss, Gliosi... OMIM:300857
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... OMIM:606159
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Urinary incontinen... OMIM:300623
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Short attention span, Neurofibrillary tangles, Chorea, Babinski sign, Optic a... OMIM:610217
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Portal hypertension, Rigidity, Splenomegal... ORPHA:309854
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Broad-based... OMIM:615490
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Dementia, Dystonia OMIM:605909
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Progressive neurologic deterioration, Tremor, Optic atrophy, Dysmetria, Ga... ORPHA:254881
Dystonia 28, Childhood-Onset
Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Cognitive impairment, R... OMIM:617284
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,... OMIM:618090
Adrenomyeloneuropathy
Peripheral axonal degeneration, Urinary incontinence, Atrophy/Degeneration involving the corticos... ORPHA:139399
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Saccharopinuria
Citrullinuria, Tremor, Spastic diplegia, Cystinuria, Gait ataxia, Distal sensory impairment, Hype... ORPHA:3124
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Parkinsonism, Neurofibrillary tangles, Dementia, Hypertonia, Semantic dementia... ORPHA:1020
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Elevated urinary 7-biopterin level, Hypertonia OMIM:264070
Pelizaeus-Merzbacher Disease
Writer's cramp, Tremor, Abnormal pyramidal sign, Choreoathetosis, Intention tremor, Ataxia, Urina... OMIM:312080
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralysis, Frequent falls, Crani... OMIM:620011
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... ORPHA:329284
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... OMIM:300423
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Atrophy/Degeneration affecting the c... ORPHA:228360
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... ORPHA:397946
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Dystonia,... OMIM:617916
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis, Inability to walk, Difficulty walking, Astrocytosis OMIM:611087
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Cerebral cort... ORPHA:306692
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Neurogenic bladder, Ataxia, Dysmetria, Gait ataxia, Urinary u... OMIM:611390
Cerebrotendinous Xanthomatosis
Axonal degeneration, Progressive psychomotor deterioration, Abnormal pyramidal sign, Gliosis, Abn... ORPHA:909
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Dysmetria, Gait ... OMIM:210000
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Cognitive impairment... ORPHA:542310
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, Memory impairment OMIM:614018
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Hepatomegaly, Caudate atrophy, Hypertriglyceridemia, Ataxia, Poor motor coordinati... ORPHA:363400
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Urinary incontinence, Tremor, Rigidity, Dementia, Gait distu... OMIM:603472
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Dystonia, Ataxia, Low cholesterol esterification ra... OMIM:257220
De Sanctis-Cacchione Syndrome
Ataxia, Hypermelanotic macule, Bilateral cryptorchidism, Axonal degeneration, Optic atrophy, Scis... OMIM:278800
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Oromandibu... ORPHA:101
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... OMIM:300894
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Neurofibrillary tangles, Rigidity, Abnormal pyramidal sig... OMIM:616840
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... ORPHA:71517
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Progressive neurologic deterioration, Tremor, Cryptorchidism, Nephrotic syndrome, Hy... ORPHA:1192
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Cerebellar hypoplasia, Limb dystonia OMIM:620270
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Hyperphenylalaninemia, Bh4-Deficient, C
Progressive neurologic deterioration, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation, Incre... OMIM:619405
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Peripheral axonal neuropathy, Ataxia OMIM:619099
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Frontotempor... OMIM:105550
Machado-Joseph Disease
Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Dystonia, Ataxia, Par... OMIM:109150
Atypical Juvenile Parkinsonism
Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ... ORPHA:391411
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Axonal degeneration OMIM:618138
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar ... OMIM:617810
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Tremor, Degeneration of anterior horn cells, Dementia, Tongue fasciculations, Diffi... OMIM:159950
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Elevated uri... OMIM:618049
X-Linked Charcot-Marie-Tooth Disease Type 3
Peripheral axonal neuropathy, Somatic sensory dysfunction, Tremor, Inability to walk, Gait distur... ORPHA:101077
Parkinson Disease 14, Autosomal Recessive
Tremor, Hand tremor, Loss of ambulation, Eyelid apraxia, Parkinsonism, Clumsiness, Global brain a... OMIM:612953
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... OMIM:614298
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Mental deterioration, Memory impairment, Parkins... ORPHA:240085
Glutathionuria
Urinary incontinence, Tremor, Reduced gamma-glutamyltransferase level, Dysdiadochokinesis, Glutat... OMIM:231950
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Tremor, Optic atrophy, Spasticity, Cerebral cortical atrophy OMIM:300983
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Mental deterioration, Urinary urgency, Bradykinesia, Deme... OMIM:168601
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadoch... ORPHA:289494
Urocanic Aciduria
Broad-based gait, Ataxia, Urocanic aciduria, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Cockayne Syndrome Type 3
Progressive neurologic deterioration, Premature graying of hair, Intention tremor, Hepatomegaly, ... ORPHA:90324
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Urinary incontinence, Axonal degeneration, Diaphragmatic paralysi... OMIM:604320
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski si... OMIM:616505
Autosomal Dominant Spastic Paraplegia Type 9B
Peripheral axonal neuropathy, Postural tremor, Progressive neurologic deterioration, Atrophy of t... ORPHA:447757
Parkinson-Dementia Syndrome
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia OMIM:260540
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Progressive neurologic deterior... OMIM:617013
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... OMIM:617435
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Dementia, Falls, Gliosis, Cognitive... ORPHA:683
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Urinary incontinence, Akinesia, Parkinsonism, Rigidity, Babinski sign, Sp... ORPHA:247234
Parkinson Disease, Late-Onset
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Urinary urgency, Bradyk... OMIM:168600
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... ORPHA:139485
Late-Infantile/Juvenile Krabbe Disease
Abnormal circulating enzyme concentration or activity, Lower limb spasticity, Ataxia, Tremor, Slu... ORPHA:206443
Alzheimer Disease 9, Susceptibility To
Neurofibrillary tangles, Hippocampal atrophy, Abnormality of extrapyramidal motor function, Senil... OMIM:608907
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic... ORPHA:330050
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Neurofibrillary tangles,... OMIM:609454
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Cerebral cortical ... ORPHA:306669
Spinocerebellar Ataxia 21
Cerebellar atrophy, Ataxia, Parkinsonism, Akinesia, Postural tremor, Limb ataxia, Gait ataxia, Co... OMIM:607454
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:607734
Sneddon Syndrome
Tremor, Nephropathy, Chorea, Hemiparesis, Dementia, Mental deterioration, Memory impairment ORPHA:820
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Chiari type I malformation, Dystonia OMIM:617836
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Urinary incontinence, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubatio... OMIM:618877
Classic Galactosemia
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Speech apra... ORPHA:79239
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... ORPHA:442835
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Cerebral atrophy OMIM:618637
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Generalized cerebral ... ORPHA:36387
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,... ORPHA:90117
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Decreased liver function, Oculomoto... OMIM:614867
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Elevated circulating alkaline ... ORPHA:529665
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s... ORPHA:96
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Clumsiness,... OMIM:277460
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Autosomal Dominant Spastic Paraplegia Type 9A
Urinary incontinence, Corpus callosum atrophy, Tremor, Abnormal cerebellum morphology, Babinski s... ORPHA:447753
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Br... OMIM:261640
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosis, Dystonia OMIM:612126
Neuroferritinopathy
Resting tremor, Caudate atrophy, Abnormal dentate nucleus morphology, Dystonia, Parkinsonism, Inv... ORPHA:157846
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Abnormal pyramidal sign, Tetr... OMIM:616267
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Spastic Paraplegia 9B, Autosomal Recessive
Urinary incontinence, Corpus callosum atrophy, Tremor, Impaired distal vibration sensation, Babin... OMIM:616586
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity OMIM:616494
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Neurofibrillary tangles, Frontotemporal dementia, Tremor, Rigidity, Parkinsonism ... ORPHA:199351
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Hippocampal sclerosis, Myoclonus OMIM:615400
Mohr-Tranebjaerg Syndrome
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Optic ... ORPHA:52368
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Spasticity, G... OMIM:616811
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus OMIM:612016
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... OMIM:618060
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Axonal degeneration, Poor coordination, Neurodegeneration, Myoclonic spasms, Di... ORPHA:478029
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dys... OMIM:607694
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Confusion, Facial palsy, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal s... OMIM:607483
Hyperphenylalaninemia, Bh4-Deficient, B
Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, ... OMIM:233910
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomoto... OMIM:612438
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp... ORPHA:240094
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Neurofibrillary tangles, Frontotemporal dementia, Dementia, Memory... OMIM:619132
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... ORPHA:64753
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Peripheral axonal neuropathy, Ataxia, Clonus, Tremor... OMIM:615673
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Symmetric peripheral demyelination, Tremor, Distal sensory impairmen... ORPHA:206594
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Neurofibrillary tangles, Frontotemporal dementia, Gliosis, Progressive language det... OMIM:607485
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
East Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Renal salt wasting, Renal magnesium was... ORPHA:199343
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Molybdenum Cofactor Deficiency, Complementation Group A
Reduced xanthine dehydrogenase level, Opisthotonus, Axonal loss, Gliosis, Decreased urinary sulfa... OMIM:252150
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Fasciculations ORPHA:65684
Tay-Sachs Disease
Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Clu... ORPHA:845
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Urinary incontinence, Upper limb postural tremor, Abnormal ce... ORPHA:458803
Ataxia-Telangiectasia
Elevated hepatic transaminase, Hypopigmentation of hair, Ataxia, Tremor, Premature graying of hai... ORPHA:100
Glutaryl-Coa Dehydrogenase Deficiency
Abnormal circulating enzyme concentration or activity, Pallidal degeneration, Dystonia, Ataxia, P... ORPHA:25
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance ORPHA:99014
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor OMIM:610297
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Crigler-Najjar Syndrome Type 1
Tremor, Memory impairment, Prolonged neonatal jaundice ORPHA:79234
Neurodegeneration With Brain Iron Accumulation 1
Urinary incontinence, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Ataxia, P... OMIM:234200
Charcot-Marie-Tooth Disease And Deafness
Tremor, Distal sensory impairment, Axonal loss, Steppage gait, Gait disturbance OMIM:118300
Spongiform Encephalopathy With Neuropsychiatric Features
Parkinsonism, Neurofibrillary tangles, Dementia, Gliosis, Memory impairment OMIM:606688
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Attention deficit hyperacti... OMIM:619556
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ata... OMIM:602481
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Ataxia, Confusion, Urinary incontinence, Cardiomegaly, Tremor, Abno... OMIM:105210
Aceruloplasminemia
Abnormal circulating enzyme concentration or activity, Torticollis, Dystonia, Ataxia, Parkinsonis... ORPHA:48818
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cognitive impairment, Dystonia... ORPHA:70594
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Tremor, Chorea, Impaired distal vibra... OMIM:606002
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Glomerulopathy, Renal insufficiency, Proteinuria, Postural tremor, Action tre... OMIM:254900
Multiple System Atrophy 1, Susceptibility To
Ataxia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Babinski sign, Urinary urgency, Bra... OMIM:146500
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Tremor, Attention deficit hyperactivity d... ORPHA:3375
Primary Progressive Freezing Gait
Postural tremor, Urinary incontinence, Clonus, Rigidity, Babinski sign, Bradykinesia, Dementia, S... ORPHA:75567
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Brain atrophy OMIM:619092
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Kanzaki Disease
Peripheral axonal neuropathy, Increased urinary O-linked sialopeptides, Axonal degeneration, Cere... OMIM:609242
Atypical Rett Syndrome
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon... ORPHA:3095
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, Gait ataxi... OMIM:614381
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Progressive extrapyramidal muscular rigidity, Akinesia, Parkinsonism, Tremor, Abn... ORPHA:240071
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methionine synthase activity, Renal insufficiency, Proteinuria, Confusion, Hemolytic-ur... OMIM:277400
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
X-Linked Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Bradykinesi... ORPHA:53351
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Inability to walk, Astrocytosis, Pontocerebellar atrophy, Cognitive impairment ORPHA:258
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Urinary incontinence, Babinski sign, Optic atrophy, C... ORPHA:314404
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Pigmentary retinopathy, Spasticity, Intention tremor OMIM:614307
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Tremor, Cryptorchidism, Abnormal cerebellum morphology, Hyperkineti... OMIM:300957
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Urinary incontinence, Corpus... OMIM:601162
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment OMIM:607876
Sporadic Infantile Bilateral Striatal Necrosis
Short attention span, Resting tremor, Urinary incontinence, Parkinsonism, Chorea, Babinski sign, ... ORPHA:225147
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Iris hypopigmentation, Tremor, Myoclonus, Cerebral corti... ORPHA:97229
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Proteinuria, Recurrent myoglobinuria, Ataxia, Tremo... OMIM:607426
Niemann-Pick Disease, Type C2
Hepatomegaly, Dystonia, Ataxia, Low cholesterol esterification rate, Neurofibrillary tangles, Jau... OMIM:607625
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Short stepped shuffling ga... OMIM:615530
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines... OMIM:613280
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Cerebral atrophy, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Lethargy OMIM:312170
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... ORPHA:363654
Xeroderma Pigmentosum, Complementation Group F
Ataxia, Tremor, Numerous pigmented freckles, Dementia, Brain atrophy, Freckling OMIM:278760
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles, Dementia, Senile plaques DECIPHER:48
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia,... OMIM:617710
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Alzheimer Disease 4
Neurofibrillary tangles, Dementia, Cognitive impairment, Senile plaques, Memory impairment, Apraxia OMIM:606889
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Spastic/hyperactive bladder, Bradykinesia, Deme... ORPHA:411602
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Horseshoe kidney, Choreoathetosis, ... OMIM:617664
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Frontal lobe de... ORPHA:97355
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Facial palsy, Writer's cramp, Tremor, Inab... OMIM:128100
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Hyperkinetic movements, Gait disturbance, Upper limb spasticity, Gliosis, Micropenis, Dec... ORPHA:457240
Classic Phenylketonuria
Hypopigmentation of hair, Tremor, Paraplegia, Hypertonia, Hemiplegia, Attention deficit hyperacti... ORPHA:79254
Acute Intermittent Porphyria
Dark urine, Abnormal circulating enzyme concentration or activity, Renal insufficiency, Somatic s... ORPHA:79276
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Alzheimer Disease, Familial, 1
Neurofibrillary tangles, Dementia, Parkinsonism OMIM:104300
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Dementia, Parkins... OMIM:607060
Alzheimer Disease 2
Neurofibrillary tangles, Dementia, Parkinsonism OMIM:104310
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Ataxia, Neurofibrillary tangles, Dementia, Spasticity, Intention tremor OMIM:117300
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Increased mitochondrial number, Methylmalonic aciduria, Dysmetria OMIM:615578
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy, Irritability OMIM:616881
Adult-Onset Distal Myopathy Due To Vcp Mutation
Urinary incontinence, Progressive neurologic deterioration, Parkinsonism, Tremor, Facial diplegia... ORPHA:329478
Cystathioninuria
Tremor, Cystathioninuria, Nephrolithiasis ORPHA:212
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t... ORPHA:83629
Angioedema, Hereditary, 1
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... ORPHA:765
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a... ORPHA:646
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Increased urinary O-linked sial... ORPHA:812
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Progressive neurologic deterioration, T... ORPHA:263455
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Waddling gait, Elevated hepatic transaminase, Speech apraxia, Ataxia, Dystoni... OMIM:615356
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Pigmentary reti... OMIM:222300
Hyperlysinemia
Abnormal circulating enzyme concentration or activity, Short attention span, Neck hypertonia, Poo... ORPHA:2203
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Bradykinesia, Dystonia, Short ... OMIM:168605
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Elevated urinary norepinephrine level, Tremor, Cranial nerve comp... ORPHA:94080
Sneddon Syndrome
Facial palsy, Tremor, Impaired distal tactile sensation, Mental deterioration, Hemiplegia OMIM:182410
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Urinary incontinence, Tremor, Tongue tremor, Hypertonia, Impaire... ORPHA:466768
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Hydronephrosis, Fascicu... OMIM:620327
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Abnormal cerebellum... OMIM:618056
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Infantile Krabbe Disease
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Progressive neurologic... ORPHA:206436
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Dysmetria, G... OMIM:617988
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Elevated hepatic transaminase, Dilated fourth ventricle, Cerebellar vermis hy... OMIM:212065
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Elevated hepatic transaminase, Peripheral axonal neuropathy, Resting tremor, ... ORPHA:254892
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis, 3-Methylglut... OMIM:616271
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia, Confusio... ORPHA:247585
Perry Syndrome
Tremor, Dementia, Abnormality of extrapyramidal motor function, Parkinsonism ORPHA:178509
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Dilated fourth ventric... ORPHA:572798
Wilson Disease
Acute hepatic failure, Tremor, Hand tremor, Aminoaciduria, Limb dystonia, Hepatomegaly, Elevated ... OMIM:277900
Developmental And Epileptic Encephalopathy 4
Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Choreoathetosis OMIM:612164
Chédiak-Higashi Syndrome
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Hypopigmentation of the... ORPHA:167
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, A... ORPHA:1454
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetr... OMIM:618527
Young-Onset Parkinson Disease
Short attention span, Tremor, Rigidity, Frontal lobe dementia, Bradykinesia, Dementia, Gait imbal... ORPHA:2828
Metachromatic Leukodystrophy
Abnormal circulating enzyme concentration or activity, Incoordination, Ataxia, Urinary incontinen... ORPHA:512
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Pigmentary ... OMIM:617675
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality, Mental deterioration, Progressiv... ORPHA:206448
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Serotonin Syndrome
Acute kidney injury, Confusion, Clonus, Tremor, Rigidity, Hypertonia, Myoclonus, Mental deteriora... ORPHA:43116
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Myoglobinuria, Renal insufficiency, Ataxia ORPHA:713
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore... ORPHA:276621
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Broad-based gait, Hypopigmentation of hair, Ataxia, Tremor, Gait imbalance,... ORPHA:98794
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia,... ORPHA:502423
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Confusion, Hemolytic-uremic syndrome, Tremor, Jaundice, Prolonged neonatal jaundice,... OMIM:274150
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Tetraparesis, Brain atrophy, Global brai... OMIM:617186
O'Sullivan-Mcleod Syndrome
Tremor, Atrophy of the spinal cord, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Chediak-Higashi Syndrome
Hepatomegaly, Hypopigmentation of hair, Ataxia, Tremor, Silver-gray hair, Jaundice, Splenomegaly,... OMIM:214500
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Low alkaline phosphatase, Lethargy, Decreased testicu... OMIM:201100
Joubert Syndrome With Renal Defect
Renal insufficiency, Cerebellar vermis hypoplasia, Ataxia, Tremor, Gait disturbance, Oculomotor a... ORPHA:220497
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles, Senile plaques OMIM:605055
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Lower limb spasticity, Renal insufficiency, Hepatomegaly, Ataxia, ... ORPHA:90321
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Incoordination, Ataxia, Progressive neurologic deterioration, Tremor, Unsteady... OMIM:614947
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Tick-Borne Encephalitis
Elevated hepatic transaminase, Speech apraxia, Somatic sensory dysfunction, Incoordination, Abnor... ORPHA:297
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore... ORPHA:29072
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tremor, Methylmalonic acid... OMIM:251100
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Progressive neurologic deterioration, Tremor, Rigidity, Dementia, Hypertonia, Spasticity OMIM:176500
Parkinson Disease 21
Bradykinesia, Tremor, Rigidity, Parkinsonism OMIM:616361
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Premature graying of hair, Abnormality of... OMIM:612199
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Extrapyramidal muscular rigidity, Proteinuria, Urinary incontinenc... ORPHA:94093
Cockayne Syndrome A
Cerebellar atrophy, Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal peripheral myelinati... OMIM:216400
Triosephosphate Isomerase Deficiency
Optic disc pallor, Dystonia, Tremor, Splenomegaly, Jaundice, Unsteady gait, Cerebral atrophy, Pro... OMIM:615512
Ataxia-Telangiectasia
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... OMIM:208900
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Abnormal cerebellum morphology, Kinetic tremor OMIM:190310
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Tremor, Spasticity, Choreoathetosis, Myoclonus, Ure... ORPHA:1934
African Trypanosomiasis
Urinary incontinence, Tremor, Impaired proprioception, Choreoathetosis, Delirium, Papilledema, He... ORPHA:3385
3-Methylglutaconic Aciduria, Type Viii
Clonus, Tremor, Jaundice, Cerebral atrophy, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduri... OMIM:617248
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Cerebral atrophy, Oligosacchariduria, ... OMIM:230000
Fucosidosis
Hepatomegaly, Cardiomegaly, Abnormal pyramidal sign, Spastic tetraplegia, Mucopolysacchariduria, ... ORPHA:349

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fuca1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fuca1.

No publications found that use IMPC mice or data for Fuca1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Fuca1tm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Fuca1tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Fuca1tm538(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fuca1tm538(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fuca1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Fuca1tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) ES Cells
Fuca1em1(IMPC)J Exon Deletion Mice

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