Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
dedicator of cyto-kinesis 3
Synonyms:
Moca,  PBP

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Dock3 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 Dock3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Gait ataxia OMIM:618292
Non-Specific Syndromic Intellectual Disability
Abnormal corpus callosum morphology, Speech apraxia, Papilledema, Impaired tandem gait, Microceph... ORPHA:528084

The table below shows human diseases predicted to be associated to Dock3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia Type 4
Sensory axonal neuropathy, Impaired proprioception, Impaired vibratory sensation, Impaired tactil... ORPHA:98765
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Onion bulb formation, Paraparesis, Tremor, Incoordination, Cerebellar atrophy, Dysmetria, Frequen... OMIM:302800
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Cognitive impairment, ... OMIM:615157
Charcot-Marie-Tooth Disease Type 2B1
Hand muscle atrophy, Proximal muscle weakness in lower limbs, Shoulder girdle muscle atrophy, Per... ORPHA:98856
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Foot dorsiflexor weakness, Fasciculations, Tip-toe gait, Steppage... OMIM:614436
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Cognitive impairment, Dystonia, Choreoathetos... OMIM:208920
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Cognitive impairment, Flexion contracture, Skeletal muscle atrophy, Ataxia, Peripheral axonal neu... OMIM:611105
Autosomal Spastic Paraplegia Type 30
Leg muscle stiffness, Progressive spastic paraplegia, Spastic gait, Somatic sensory dysfunction, ... ORPHA:101010
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Proximal amyotrophy, Axonal deg... OMIM:604484
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... OMIM:601596
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Apraxia, Dementia, Ataxia, Spasticity, Neurodegeneration, Leukoence... OMIM:615889
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Diffuse axonal swelling, Atrophy of the spinal cord, Abnormal low... OMIM:602433
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Distal amyot... OMIM:617018
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Foot dorsiflexor weakness, Axonal degeneration, Steppage gait, Distal sensory impairment, Gait di... OMIM:616155
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Abnormal cerebr... OMIM:618138
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Hypertrophic nerve changes, Axonal degeneration, Decreased number... OMIM:214400
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebral atrophy, Cerebellar atrophy, Diffuse swelling of cerebral white matter, Mental deteriora... OMIM:613925
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Iron accumulation in globus pallidus, Generalized dystonia, Cerebellar vermis... OMIM:619389
Spastic Paraplegia 32, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, Spastic gait, Lower limb muscle weakness, Spastic paraplegi... OMIM:611252
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Cerebellar atrophy, Foot dorsiflexor weakness, Spastic tetraparesis, Hypoplasia of the corpus cal... ORPHA:496756
Spastic Ataxia-Corneal Dystrophy Syndrome
Spinocerebellar tract degeneration, Ataxia, Decreased circulating antibody level, Gait disturbanc... ORPHA:2572
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Triceps weakness, Somatic sensory dysfunction, Flexion contracture, Frequent falls, Impaired vibr... ORPHA:99947
X-Linked Progressive Cerebellar Ataxia
Axonal loss, Dysmetria, Foot dorsiflexor weakness, Frequent falls, Spinocerebellar tract degenera... ORPHA:1175
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebral atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia OMIM:615268
Spinocerebellar Ataxia Type 12
Cerebral atrophy, Cerebellar atrophy, Action tremor, Abnormal pyramidal sign, Parkinsonism, Cogni... ORPHA:98762
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Kinetic tremor, Abnormality of the spinocerebellar tracts, Parkinsoni... ORPHA:98756
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb form... OMIM:606482
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Foot dorsiflexor weakness, Ataxia, Steppage gait, Gait ataxia, Dis... OMIM:618387
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Dementia, Mental deterioration, Ataxia, Abnormal cerebellum morphology, Diffu... OMIM:615362
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Cerebral atrophy, Cognitive impairment, Peripheral demyelination,... OMIM:604168
Spinocerebellar Ataxia 38
Cerebellar atrophy, Ataxia, Gait ataxia, Peripheral axonal neuropathy, Limb ataxia OMIM:615957
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cognitive imp... OMIM:616192
Spinocerebellar Ataxia 18
Cerebellar atrophy, Dysmetria, Sensory axonal neuropathy, Skeletal muscle atrophy, Limb muscle we... OMIM:607458
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Abnormal pyramidal sign, Parkinsonism, Resting tremor, Impaired vibratory sen... OMIM:617225
Autosomal Recessive Spastic Paraplegia Type 74
Progressive spastic paraplegia, Cerebellar atrophy, Hypoplasia of the corpus callosum, Cerebral w... ORPHA:468661
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired vibration sensation in the lower limbs, Progressive cerebellar ataxia, Impaired distal p... ORPHA:137898
Nescav Syndrome
Cerebral atrophy, Cerebellar atrophy, Flexion contracture, Cerebellar vermis atrophy, Inability t... OMIM:614255
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Foot dorsiflexor weakness, Hypoplasia of the corpus callosum, Spastic tetrapl... OMIM:617207
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Ataxia, Unsteady gait, Tremor OMIM:615945
Behr Syndrome
Achilles tendon contracture, Cerebellar atrophy, Dysmetria, Ataxia, Progressive spasticity, Gait ... OMIM:210000
Autosomal Dominant Spastic Paraplegia Type 38
Thenar muscle weakness, Progressive spastic paraplegia, First dorsal interossei muscle atrophy, S... ORPHA:171617
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Cerebellar atrophy, Broad-based gait, Dysdiadochokinesis OMIM:605388
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Foot dorsiflexor weakness, Axonal degeneration, Tongue fasciculations, Clonu... OMIM:618811
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal sensory nerve conduction velocity, Impaired proprioception, Ataxia, Impaired vibration s... ORPHA:88628
Spastic Paraplegia 2, X-Linked
Spastic gait, Dysmetria, Flexion contracture, Spinocerebellar tract degeneration, Skeletal muscle... OMIM:312920
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Gait ataxia, Difficulty walking, Tremor ORPHA:423296
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tetraparesis, Dysplastic corpus callosum, Cerebellar atrophy, Dystonia, Skeletal muscle atrophy, ... OMIM:618276
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Gait ataxia, Spasticity, Tremor ORPHA:217012
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Cognitive impairment, Cerebellar hypoplasia, Tremor, Unsteady gait, Limb atax... OMIM:615768
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Ataxia, Gait ataxia, Microcephaly, Spasticity, Limb ataxia, Babinski sign, Op... OMIM:614322
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Progressive spastic paraplegia, Sensory axonal neuropathy, Impaired pain sensation, Spastic parap... ORPHA:139578
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Mental deterioration, Ataxia, Optic atrophy OMIM:614706
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:617769
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Progressive microcephaly, Skeletal muscle atrophy, Ataxia, Simplified gyral p... OMIM:613402
Spastic Paraplegia 30, Autosomal Dominant
Lower limb amyotrophy, Cerebellar atrophy, Dysmetria, Spastic gait, Lower limb muscle weakness, S... OMIM:610357
Spinocerebellar Ataxia 12
Cerebellar atrophy, Dysmetria, Parkinsonism, Action tremor, Axial dystonia, Facial myokymia, Head... OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Intention tremor, Lower limb spasticity, ... OMIM:616948
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Abnormal cerebral white matter morphology, Fasciculations, Ataxia, Gait... OMIM:607317
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Intention tremor, Progressive cerebella... ORPHA:284332
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Vocal cord paralysis, Axonal degeneration, Knee flexion contracture, Decreased... OMIM:615490
Spinocerebellar Ataxia 23
Cerebellar atrophy, Dysmetria, Agenesis of corpus callosum, Impaired vibration sensation in the l... OMIM:610245
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Spastic tetraparesis... OMIM:612319
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Mental deterioration, Ataxia, Myoclonus, Tremor OMIM:616187
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait OMIM:616410
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebral atrophy, Cerebellar atrophy, Microcephaly, Hypoplasia of the corpus callosum, Truncal at... OMIM:611726
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... ORPHA:98769
Congenital Muscular Dystrophy Without Intellectual Disability
Achilles tendon contracture, Cerebellar atrophy, Frequent falls, Limb-girdle muscle atrophy, Cere... ORPHA:370980
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Cerebellar atrophy, Mental deterioration, Ataxia, Neurodegeneration, Optic atrophy OMIM:610951
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Dysmetria, Intention tremor, Gait ataxia, Progressive cerebellar ataxia, Tort... ORPHA:276193
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Torticollis OMIM:611694
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Memory impairment, Focal dystonia, Facial myokymia, Mental deterio... OMIM:605361
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Parkinsonism, Dystoni... OMIM:617672
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Intention tremor, Ataxia, Rigidity, Giant somatosensory evoked potentials, My... OMIM:618876
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in upper limbs, Impaired distal proprioception, Frequent falls, Peripher... ORPHA:101097
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Multiple joint contractures, Progre... ORPHA:521406
Dystonia 23
Cerebellar atrophy, Axial dystonia, Head tremor, Limb dystonia, Cerebral cortical atrophy, Gait d... OMIM:614860
Gordon Holmes Syndrome
Dementia, Cerebral atrophy, Cerebellar atrophy, Ataxia OMIM:212840
Neurodegeneration With Brain Iron Accumulation 6
Hypoplasia of the corpus callosum, Dystonia, Spastic tetraplegia, Neurodegeneration, Spastic para... OMIM:615643
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebral atrophy, Cerebellar atrophy, Action tremor, Parkinsonism, Hypoplasia of the corpus callo... OMIM:300423
Spinocerebellar Ataxia 35
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Torticollis, Babinski si... OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral atrophy, Cerebellar atrophy, Frequent falls, Mental deterioration, Gait ataxia, Spastici... OMIM:618369
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Dysdiadochokinesis, Cerebellar vermis atrophy, Cogwheel rigidity, My... ORPHA:363710
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Spinocerebellar tract degeneration, Cerebellar vermis atrophy, Spastic dysarthria, Global brain a... ORPHA:94124
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebral atrophy, Cerebellar atrophy, Action tremor, Sensory axonal neuropathy, Cognitive impairm... ORPHA:254886
Spinocerebellar Ataxia Type 17
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Parkinsonism, Abnormal pyramida... ORPHA:98759
Autosomal Recessive Spastic Paraplegia Type 78
Progressive spastic paraplegia, Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Sensory ax... ORPHA:513436
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Dystonia, Cognitive impairment, Gait ataxia, Spasticity, Cerebral ... OMIM:611390
Spinocerebellar Ataxia Type 20
Cerebral calcification, Kinetic tremor, Cerebellar atrophy, Abnormal pyramidal sign, Intention tr... ORPHA:101110
Spinocerebellar Ataxia 19
Cerebellar atrophy, Cognitive impairment, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ... OMIM:607346
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral atrophy, Cerebellar atrophy, Abnormal tendon morphology, Abnormal pyramidal sign, Cognit... ORPHA:320391
Spastic Paraplegia 85, Autosomal Recessive
Cerebellar atrophy, Impaired proprioception, Impaired vibratory sensation, Impaired tactile sensa... OMIM:619686
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Cerebellar hypoplasia, Fasciculations, Degeneration of anterior horn cells... OMIM:607596
Spinocerebellar Ataxia 17
Cerebellar atrophy, Dysmetria, Parkinsonism, Dystonia, Intention tremor, Apraxia, Dementia, Brady... OMIM:607136
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Myo... OMIM:600143
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Cerebellar atrophy, Ataxia, Steppage gait, Distal sensory impairment, Periphera... OMIM:607250
Spinocerebellar Ataxia Type 1
Cognitive impairment, Dystonia, Abnormality of masticatory muscle, Progressive cerebellar ataxia,... ORPHA:98755
Spastic Paraplegia 46, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, Spastic gait, Upper limb spasticity, Lower limb muscle weak... OMIM:614409
Juvenile Huntington Disease
Cerebellar atrophy, Dystonia, Cerebellar vermis atrophy, Abnormal cerebral white matter morpholog... ORPHA:248111
Autosomal Dominant Spastic Paraplegia Type 8
Progressive spastic paraplegia, Spastic gait, Lower limb muscle weakness, Peroneal muscle atrophy... ORPHA:100989
Adrenomyeloneuropathy
Leg muscle stiffness, Peripheral axonal degeneration, Atrophy of the spinal cord, Spastic gait, C... ORPHA:139399
Spinocerebellar Ataxia 46
Cerebellar atrophy, Dysmetria, Sensory axonal neuropathy, Gait ataxia, Limb ataxia, Positive Romb... OMIM:617770
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Progressive cerebellar ataxia, Abnormal cerebellar peduncle morphology, Cerebellar vermis hypopla... ORPHA:98
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Frequent falls, Fasciculations, Head titubation, Gait ataxia, Spas... OMIM:611302
Spastic Paraplegia 7, Autosomal Recessive
Cognitive impairment, Lower limb muscle weakness, Spastic paraplegia, Impaired vibration sensatio... OMIM:607259
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb amyotrophy, Progressive spastic paraplegia, Spastic gait, Impaired proprioception, Low... ORPHA:100999
Leukodystrophy, Hypomyelinating, 18
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Flexion contracture,... OMIM:618404
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Myoclonic spasms, Dystonia, Cognitive impairment... ORPHA:79263
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Dystonia, Cognitive impairment, Oculomoto... OMIM:617145
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb amyotrophy, Progressive spastic paraplegia, Spastic gait, Lower limb muscle weakness, ... ORPHA:171863
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar hypoplasia, Simplified gyral pattern,... OMIM:224050
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Degeneration of anterior horn cells, Axonal degeneration, Decreas... OMIM:604320
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... OMIM:300894
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Intention tremor, Fasciculations, Gait ataxia, Limb ataxia, Trunca... OMIM:613728
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Spastic gait, Dystonia, Lower limb muscle weakness, Spastic paraplegia, Ataxi... OMIM:607565
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Dysmetria, Hypoplasia of the corpus callosum, Inability to walk, Rigidity, Ga... OMIM:618090
Spinocerebellar Ataxia, Autosomal Recessive 18
Incoordination, Cerebellar atrophy, Dysmetria, Flexion contracture, Cerebellar vermis atrophy, Oc... OMIM:616204
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Parkinsonism, Dystonia, Abnormal lower motor neuron morphology, Neurodegenera... OMIM:614298
Neurodegeneration With Brain Iron Accumulation 7
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Spasticity, Hyp... OMIM:617916
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Gait ataxia, Spasticity, Clumsiness OMIM:608029
Spinocerebellar Ataxia 5
Incoordination, Cerebellar atrophy, Dysmetria, Cognitive impairment, Impaired vibratory sensation... OMIM:600224
Cerebrotendinous Xanthomatosis
Cognitive impairment, Dystonia, Global brain atrophy, Hyperintensity of cerebral white matter on ... ORPHA:909
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Dysmetria, Motor deterioration, Ataxia, Increased neuronal autofluorescent li... OMIM:256731
Spastic Paraplegia Type 7
Cerebellar atrophy, Spastic gait, Somatic sensory dysfunction, Abnormal pyramidal sign, Memory im... ORPHA:99013
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Gait at... ORPHA:423275
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Sensory axonal neuropathy, Memory impairment, Akinesia, Gait ata... ORPHA:98764
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Abnormal pyramidal sign, Dysmetria, Parkinsonism, Dystonia, Memory impairment, Bradykinesia, Ment... OMIM:618317
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Ataxia, Peripheral axonal neuropathy, Cerebral cortical atrophy, Difficulty w... OMIM:619425
Familial Infantile Bilateral Striatal Necrosis
Spastic tetraparesis, Dystonia, Basal ganglia cysts, Lower limb muscle weakness, Loss of ability ... ORPHA:225154
Autosomal Dominant Spastic Paraplegia Type 37
Progressive spastic paraplegia, Spastic gait, Lower limb muscle weakness, Lower limb spasticity, ... ORPHA:171612
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Resting tremor, Optic atrophy, Involuntary movements, Increased variability in muscle f... ORPHA:401768
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Dysmetria, Cognitive impairment, Intention tremor, Gait ataxia, Spasticity, D... OMIM:615386
Spastic Paraplegia 39, Autosomal Recessive
Progressive spastic paraplegia, Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Gait dist... OMIM:612020
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Dysdiad... OMIM:616053
Huntington Disease
Cerebellar atrophy, Dementia, Bradykinesia, Gait ataxia, Rigidity, Chorea, Neuronal loss in centr... OMIM:143100
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Global b... OMIM:610185
Polyglucosan Body Neuropathy, Adult Form
Tetraparesis, Orthostatic hypotension, Cognitive impairment, Spastic paraplegia, Paresthesia, Dis... OMIM:263570
Neurodegeneration With Brain Iron Accumulation
Cerebellar atrophy, Dystonia, Rigidity, Spasticity, Chorea, Abnormality of extrapyramidal motor f... ORPHA:385
De Sanctis-Cacchione Syndrome
Cerebral atrophy, Choreoathetosis, Global brain atrophy, Olivopontocerebellar atrophy, Mental det... OMIM:278800
Autosomal Spastic Paraplegia Type 58
Microcephaly, Clonus, Tremor, Cerebellar atrophy, Dysmetria, Frequent falls, Peripheral demyelina... ORPHA:397946
Spinocerebellar Ataxia 27
Cerebellar atrophy, Sensory axonal neuropathy, Memory impairment, Impaired vibratory sensation, H... OMIM:609307
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dysmetria, Cognitive impairment, Dilated fourth ventricle, Cerebellar vermis ... ORPHA:1170
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Dysmetria, Impaired vibratory sensation, Oculomotor apraxia, Progressive cere... ORPHA:284324
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Cognitive impairment, Dystonia, Ataxia, Tetraplegia, Oculomotor apraxia OMIM:616267
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Brachial plexus neuropathy, Axonal degeneration, Skeletal muscle ... OMIM:162100
Spinocerebellar Ataxia 1
Cognitive impairment, Olivopontocerebellar atrophy, Spinocerebellar atrophy, Progressive cerebell... OMIM:164400
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Dysmetria, Ataxia, Gait ataxia, Peripheral axonal neuropathy, Spasticity, Lim... OMIM:610743
Spastic Paraplegia 79, Autosomal Recessive
Tetraparesis, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Flexion contracture, Neurodegenera... OMIM:615491
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in upper limbs, Cognitive impairment, Cervical spinal cord atrophy, Opti... ORPHA:101085
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Dysmetria, Dystonia, Ataxia, Optic disc pallor, Spasticity, Secondary microce... OMIM:617954
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Choreoathetosis, Ataxia, Spasticity, C... OMIM:618088
Spastic Paraplegia 26, Autosomal Recessive
Spastic gait, Dysmetria, Frequent falls, Dystonia, Spastic paraplegia, Abnormal cerebellum morpho... OMIM:609195
Leukodystrophy, Hypomyelinating, 2
Cerebral atrophy, Sensory axonal neuropathy, Cognitive impairment, Dystonia, Choreoathetosis, Int... OMIM:608804
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysmetria, Cognitive impairment, Cerebellar vermis atrophy, Intention tremor,... ORPHA:208513
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic gait, Abnormal pyramidal sign, Cognitive impairment, Ataxia, Unsteady... OMIM:616795
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy, Atrophy of the spinal cord, Lower limb spasticity, Generalized limb muscle at... ORPHA:139480
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Ataxia, Type 2 muscle fiber predominance, I... OMIM:619028
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Dystonia, Cognitive impairment, Skeletal muscle atrophy, Increased... OMIM:614487
Superficial Siderosis
Atrophy of the spinal cord, Abnormal corpus callosum morphology, Cognitive impairment, Lower limb... ORPHA:247245
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Peripheral axonal degeneration, Orthostatic hypotension, Axonal degeneration, Decreased number of... OMIM:608720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Cerebellar dysplasia, Flexion contracture, Congenital muscular dystrophy, Cerebellar hypoplasia, ... OMIM:613155
Adult Krabbe Disease
Abnormal corpus callosum morphology, Lower limb muscle weakness, Hoffmann sign, Progressive spast... ORPHA:206448
Hypermanganesemia With Dystonia 2
Opisthotonus, Dystonia, Hyperintensity of cerebral white matter on MRI, Microcephaly, Scissor gai... OMIM:617013
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Cerebellar atrophy, Frequent falls, Cerebellar cyst, Congenital musc... OMIM:606612
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Parkinsonism, Resting tremor, Bradykinesia, Craniofacial dystonia, Limb dysto... ORPHA:71517
Spastic Ataxia, Charlevoix-Saguenay Type
Dysmetria, Spastic gait, Cerebellar vermis atrophy, Falls, Decreased number of large peripheral m... OMIM:270550
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Frequent falls, Cerebellar vermis atrophy, Intention tremor, Gait ataxia, Poo... ORPHA:512260
Machado-Joseph Disease
Cerebellar atrophy, Parkinsonism, Dystonia, Spinocerebellar tract degeneration, Dilated fourth ve... OMIM:109150
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Dysmetria, Action tremor, Frequent falls, Hypoplasia of the corpus callosum, ... ORPHA:93952
Beta-Propeller Protein-Associated Neurodegeneration
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... ORPHA:329284
Machado-Joseph Disease Type 3
Dystonia, Degeneration of the striatum, Progressive cerebellar ataxia, Abnormality of extrapyrami... ORPHA:276244
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy, Fasciculations, Bradykinesia, Ataxia, Decreased nerve conduction velocit... OMIM:183050
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Dystonia, Choreoathetosis, Ataxia, Microcephaly, Rigidity, Spasticity, Optic ... OMIM:612438
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Neurodegeneration, Cavitation of the basal ganglia, Blep... OMIM:606159
Progressive Myoclonic Epilepsy Type 3
Cerebral atrophy, Chin myoclonus, Cerebellar atrophy, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:263516
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dysmetria, Dystonia, Cerebellar hypoplasia, Lower limb muscle weakness, Spast... ORPHA:313772
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Gait ataxia, Babinski sign, Limb ataxia... OMIM:609270
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Dystonia, Global brain atrophy, Optic neuropathy, Axonal degeneration, Microc... OMIM:616811
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait, Distal sensory impairme... OMIM:617633
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Achilles tendon contracture, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Decreased n... OMIM:612674
4H Leukodystrophy
Cerebellar atrophy, Dysmetria, Dystonia, Hypoplasia of the corpus callosum, Hyperintensity of cer... ORPHA:289494
Childhood-Onset Spasticity With Hyperglycinemia
Spastic dysarthria, Spastic diplegia, Ataxia, Unsteady gait, Progressive spasticity, Babinski sig... ORPHA:401866
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Vestibular areflexia, Axonal loss, Cerebellar atrophy, Ataxia, Abnormal autonomic nervous system ... OMIM:614575
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dysmetria, Parkinsonism, Dystonia, Mental deterioration, Ataxia, Gait ataxia,... OMIM:618093
Cln5 Disease
Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the central nervous system, Inabili... ORPHA:228360
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Impair... OMIM:159550
Leukodystrophy, Hypomyelinating, 21
Tetraparesis, Cerebellar atrophy, Dystonia, Athetosis, Ataxia, Mental deterioration, Microcephaly... OMIM:619310
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dysmetria, Dystonia, Ataxia, Abnormal cerebellum morphology, Spasticity, Cere... OMIM:607694
Dentatorubral Pallidoluysian Atrophy
Dysmetria, Action tremor, Choreoathetosis, Impaired proprioception, Cognitive impairment, Hyperin... ORPHA:101
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Dilated fourth ventricle, Retrocerebellar... OMIM:614831
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Cerebellar atrophy, Dysmetria, Paralysis, Limb fasciculations, Gait ataxia, Progressive cerebella... OMIM:606183
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Cerebellar atrophy, Abnormal pyramidal sign, Cognitive impairment, Limb dystonia, Truncal ataxia,... OMIM:617560
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Machado-Joseph Disease Type 1
Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Degeneration of the striatum, Dilated four... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Degeneration of the striatum, Dilated four... ORPHA:276241
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in upper limbs, Abnormality of peripheral somatosensory evoked potential... ORPHA:466768
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Intention tremor, Ataxia, Spinocerebellar atrophy, Gait ataxia, Spasticity, D... OMIM:215470
Autosomal Recessive Ataxia, Beauce Type
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Chronic axonal neuro... ORPHA:88644
Combined Oxidative Phosphorylation Defect Type 29
Myoclonic spasms, Global brain atrophy, Optic neuropathy, Poor coordination, Abnormal autonomic n... ORPHA:478029
Spinocerebellar Ataxia 29
Dysmetria, Cerebellar vermis atrophy, Intention tremor, Gait ataxia, Impaired tandem gait, Broad-... OMIM:117360
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb amyotrophy, Progressive spastic paraplegia, Spastic gait, Impaired proprioception, Low... ORPHA:100993
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Dysmetria, Flexion contracture, Hypertonia, Intention tremor, Ataxia, Steppag... OMIM:616505
Null Syndrome
Progressive spastic paraplegia, Peripheral demyelination, Inability to walk, Ataxia, Abnormal cer... ORPHA:280234
Juvenile Amyotrophic Lateral Sclerosis
Cognitive impairment, Opisthotonus, Dystonia, Microcephaly, Clonus, Skeletal muscle atrophy, Axia... ORPHA:300605
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Dysmetria, Somatic sensory dysfunction, Skeletal muscle atrophy, Head tremor,... ORPHA:98771
Spinocerebellar Ataxia 34
Cerebellar atrophy, Abnormal pyramidal sign, Intention tremor, Fasciculations, Ataxia, Gait ataxi... OMIM:133190
Spinocerebellar Ataxia 10
Incoordination, Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Dementia, Decreased nerve... OMIM:603516
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Cognitive impairment, Progressive cerebellar ataxia, Paraparesis, Abnorm... ORPHA:99
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Dysdiadochokinesis, Memory impairment, Bradykine... OMIM:213600
X-Linked Cerebral Adrenoleukodystrophy
Spastic tetraparesis, Global brain atrophy, Hoffmann sign, Hamstring contractures, Ankle clonus, ... ORPHA:139396
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Parkinsonism, Abnormal cranial nerve morphology, Resting tremor, Shuffling gait, Intention tremor... ORPHA:247234
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Cerebellar atrophy, Dysmetria, Frequent falls, Abnormality of th... ORPHA:157941
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Ataxia, Gait ataxia, Distal sensory impairment, Spasticity, T... OMIM:616719
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Spastic tetraparesis, Flexion contracture, Abnormal pyramidal sign, Dystonia,... ORPHA:35069
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Resting tremor, Parkinsonism, Intention tremor, Mem... OMIM:300623
Spinocerebellar Ataxia 2
Dysmetria, Action tremor, Parkinsonism, Dilated fourth ventricle, Impaired vibratory sensation, S... OMIM:183090
Leukodystrophy, Hypomyelinating, 15
Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Cognitive impairment, In... OMIM:617951
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Intention tremor, Progressive cerebellar ataxia, Spasticity, Progr... ORPHA:352403
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb amyotrophy, Progressive spastic paraplegia, Spastic gait, Hand muscle weakness, Lower ... ORPHA:320355
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Neurofibrillary tangles, Memory impairment, Lower limb muscle w... OMIM:137440
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Progressive cerebellar ataxia, Limb ataxia, Progressive gait ataxia, Truncal ... ORPHA:101112
Huntington Disease-Like 3
Abnormal pyramidal sign, Flexion contracture, Dystonia, Caudate atrophy, Mental deterioration, At... OMIM:604802
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive spastic paraplegia, Cerebellar atrophy, Atrophy of the spinal cord, Hypoplasia of the... ORPHA:329308
Autosomal Dominant Spastic Paraplegia Type 9A
Abnormal pyramidal sign, Spastic gait, Memory impairment, Spastic dysarthria, Dementia, Abnormal ... ORPHA:447753
Autosomal Recessive Spastic Paraplegia Type 35
Spastic tetraparesis, Cognitive impairment, Spastic paraplegia, Ankle clonus, Cerebellar atrophy,... ORPHA:171629
Adult-Onset Autosomal Dominant Leukodystrophy
Atrophy of the spinal cord, Orthostatic hypotension, Action tremor, Cognitive impairment, Aplasia... ORPHA:99027
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Neurofibrillary tangles, Neurodegenera... OMIM:610217
Posterior Column Ataxia With Retinitis Pigmentosa
Peripheral demyelination, Impaired proprioception, Skeletal muscle atrophy, Hyperintensity of MRI... OMIM:609033
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Impaired proprioception, Chronic axonal ne... OMIM:606002
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormality of the spinocerebellar tracts, Abnormal pyramidal sign, Skeletal muscle atrophy, Psyc... ORPHA:329336
Spinocerebellar Ataxia 21
Cerebellar atrophy, Parkinsonism, Dystonia, Cognitive impairment, Intention tremor, Mental deteri... OMIM:607454
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebral atrophy, Cerebellar atrophy, Atrophy of the spinal cord, Atrophy/Degeneration affecting ... ORPHA:445062
Autosomal Recessive Spastic Paraplegia Type 11
Atrophy of the spinal cord, Orthostatic hypotension, Lower limb muscle weakness, Hyperintensity o... ORPHA:2822
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Ataxia, Unsteady gait, Titubation, Tremor OMIM:619405
Myopathy With Extrapyramidal Signs
Cerebellar dysplasia, Frequent falls, Dystonia, Choreoathetosis, Perisylvian polymicrogyria, Atax... OMIM:615673
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Cerebellar atrophy, Dystonia, Globus pallidus hypointensity on susceptibility-weighted imaging, S... OMIM:618868
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, Cerebellar atrophy, Frequent falls, Cognitive impairment, Spastic tetraplegia, ... ORPHA:1947
3-Methylglutaconic Aciduria, Type I
Cerebral atrophy, Cognitive impairment, Dystonia, Spastic tetraplegia, Dementia, Athetosis, Ataxi... OMIM:250950
Spinocerebellar Ataxia 44
Cerebellar atrophy, Dysmetria, Frequent falls, Ataxia, Gait ataxia, Spasticity, Dysdiadochokinesis OMIM:617691
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Frequent falls, Dystonia, Dysdiadochokinesis, Lower limb spasticity, Gait ata... OMIM:604391
Spinocerebellar Ataxia 13
Cerebellar atrophy, Abnormal pyramidal sign, Gait ataxia, Progressive cerebellar ataxia, Limb dys... OMIM:605259
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Ataxia, Poor coordination, Cogwheel rigidity, Limb ataxia, Slurred speech, Tr... ORPHA:98772
Spinocerebellar Ataxia 26
Incoordination, Cerebellar atrophy, Gait ataxia, Limb ataxia, Truncal ataxia OMIM:609306
Spinocerebellar Ataxia 15
Cerebellar atrophy, Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraparesis, Hypertonia, Fasciculations, Lo... OMIM:618598
Spinocerebellar Ataxia 4
Cerebellar atrophy, Progressive cerebellar ataxia, Distal sensory impairment, Limb dysmetria, Bab... OMIM:600223
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Cognitive impairment, Type II lissencephaly, Cerebellar cyst, Cerebellar hy... OMIM:615181
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Focal dystonia, Axial dystonia, Head tremor, Craniofacial dystonia, Unsteady ... ORPHA:420492
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Cognitive impairment, Cerebellar cyst, Dilated fourth ventricle, Inferior c... ORPHA:370022
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Bradykinesia, Gait ataxia, Impaired distal vibration sensation, Optic disc pa... ORPHA:98768
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Dystonia, Impaired vibratory sensation, Cerebellar vermis atrophy, Spastic dy... ORPHA:98760
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Resting tremo... ORPHA:314404
Spinocerebellar Ataxia 32
Cerebellar atrophy, Cognitive impairment, Ataxia OMIM:613909
Spinocerebellar Ataxia Type 32
Progressive cerebellar ataxia, Cerebellar atrophy, Cognitive impairment ORPHA:276183
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Cerebellar atrophy, Memory impairment, Dementia, Cataplexy, Ataxia, Spasticity, Optic atrophy OMIM:604121
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Global brain atrophy, Phonic tics, Decreased muscle mass, Abnormality of extrapyramidal... OMIM:234200
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Parkinsonism, Cognitive impairment, Skeletal muscle atrophy, Olivopontoc... OMIM:146500
Secondary Syringomyelia
Somatic sensory dysfunction, Syringomyelia, Hyperintensity of MRI T2 signal of the spinal cord, S... ORPHA:99857
Arachnoid Cyst
Tetraparesis, Abnormal spinal meningeal morphology, Memory impairment, Lower limb muscle weakness... ORPHA:2356
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spastic dysarthria, Head tremor, Proximal amyotrophy, Spinocerebellar atrophy, Impaired vibration... ORPHA:95433
Foix-Alajouanine Syndrome
Somatic sensory dysfunction, Frequent falls, Hyperintensity of MRI T2 signal of the spinal cord, ... ORPHA:79093
Cerebrotendinous Xanthomatosis
Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Pseudobulbar paralysis, Dementia, ... OMIM:213700
Kanzaki Disease
Cerebral atrophy, Cognitive impairment, Axonal degeneration, Distal sensory impairment, Periphera... OMIM:609242
Fragile X-Associated Tremor/Ataxia Syndrome
Dysmetria, Parkinsonism, Memory impairment, Intention tremor, Dementia, Bradykinesia, Ataxia, Abn... ORPHA:93256
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration, Hypoesthesia OMIM:106100
Acute Disseminated Encephalomyelitis
Cerebral edema, Abnormal pyramidal sign, Somatic sensory dysfunction, Abnormality of the basal ga... ORPHA:83597
Japanese Encephalitis
Cognitive impairment, Opisthotonus, Dystonia, Cogwheel rigidity, Respiratory paralysis, Abnormali... ORPHA:79139
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Weakness of the intrinsic hand muscles, Abnormality of the spinocerebellar tracts, Foot dorsiflex... OMIM:302900
Cysticercosis
Cerebral calcification, Somatic sensory dysfunction, Memory impairment, Abnormal skeletal muscle ... ORPHA:1560
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Pituitary carcinoma, Sp... ORPHA:300385
Bilateral Perisylvian Polymicrogyria
Cerebellar dysplasia, Perisylvian predominant thick cortex pachygyria, Dysmetria, Bilateral peris... ORPHA:98889
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Abnormal hypothalamus morphology, Cerebral edema, Abnormality of the ba... ORPHA:68
Friedreich Ataxia 2
Incoordination, Abnormality of the spinocerebellar tracts, Impaired vibratory sensation, Ataxia, ... OMIM:601992
Keratoderma Hereditarium Mutilans
Cognitive impairment, Abnormality of the spinal cord ORPHA:494
Friedreich Ataxia And Congenital Glaucoma
Abnormality of the spinocerebellar tracts, Impaired vibratory sensation, Decreased amplitude of s... OMIM:229310
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Gait ataxia OMIM:618292
Spinal Arteriovenous Metameric Syndrome
Paraparesis, Spinal arteriovenous malformation, Abnormality of the spinal cord ORPHA:53721
Solitary Bone Cyst
Abnormality of the spinal cord, Muscular edema ORPHA:83468
Primary Sjögren Syndrome
Somatic sensory dysfunction, Myositis, Cognitive impairment, Dementia, Abnormal cerebellum morpho... ORPHA:289390
Limb Body Wall Complex
Myelomeningocele, Diastasis recti, Anencephaly, Congenital diaphragmatic hernia, Spina bifida, Ab... ORPHA:2369
Tetrasomy 9P
Myositis, Dandy-Walker malformation, Lissencephaly, Pachygyria, Abnormality of the spinal cord, P... ORPHA:3310
Mosaic Trisomy 20
Abnormality of the spinal cord ORPHA:1724
Non-Specific Syndromic Intellectual Disability
Abnormal corpus callosum morphology, Speech apraxia, Papilledema, Impaired tandem gait, Microceph... ORPHA:528084

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 Dock3

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 Dock3.

No publications found that use IMPC mice or data for Dock3.

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MGI Allele Allele Type Produced
Dock3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dock3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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