Gene Summary

Name:
dehydrodolichyl diphosphate synthase
Synonyms:
3222401G21Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased thigmotaxis Dhddstm1b(KOMP)Wtsi HET   Early adult 5.74×10-05
preweaning lethality, complete penetrance Dhddstm1b(KOMP)Wtsi HOM   Early adult 0.000317
tremors Dhddstm1b(KOMP)Wtsi HET Early adult 5.76×10-09
abnormal behavior Dhddstm1b(KOMP)Wtsi HET   Early adult 5.80×10-05

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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 Whole Body Lateral Orientation

9 Images

Electrocardiogram (ECG)

Waveform Image

30 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia OMIM:617836
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Spasticity, Abnormality of coordination, Myoclonus, Tremor, Rigidity, Atte... ORPHA:442835
Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal... ORPHA:791
Retinitis Pigmentosa 59
Rod-cone dystrophy, Cystoid macular edema OMIM:613861

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Depression, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigi... OMIM:619491
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Dystonia 11, Myoclonic
Depression, Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive beh... OMIM:159900
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Depression, Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Up... ORPHA:401901
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Depression, Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable r... OMIM:620482
Brunner Syndrome
Self-injurious behavior, Low frustration tolerance, Aggressive behavior, Kinetic tremor, Impulsivity OMIM:300615
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Depression, Violent behavior, Chorea, Limb dystonia, Upper motor neuron dysfunction, ... ORPHA:216873
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia 37
Frequent falls, Dysphagia, Tremor, Ataxia OMIM:615945
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Dystonia 12
Depression, Bradykinesia, Emotional lability, Tremor, Parkinsonism, Torticollis, Dystonia, Dysphagia OMIM:128235
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Tremor, Hereditary Essential, 6
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor OMIM:618866
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia, Dysphagia ORPHA:309169
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi... ORPHA:66624
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Episodic Kinesigenic Dyskinesia 2
Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia,... ORPHA:210571
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Rapid-Onset Dystonia-Parkinsonism
Depression, Resting tremor, Limb dystonia, Gait ataxia, Emotional lability, Parkinsonism, Craniof... ORPHA:71517
Spinocerebellar Ataxia 12
Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokines... OMIM:604326
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Spinocerebellar Ataxia 40
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... OMIM:616053
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation OMIM:619651
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Agitation OMIM:141500
Spinocerebellar Ataxia Type 28
Spasticity, Depression, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia,... ORPHA:101109
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus OMIM:616921
Spinocerebellar Ataxia 48
Depression, Chorea, Gait ataxia, Dysmetria, Tremor, Irritability, Babinski sign, Parkinsonism, At... OMIM:618093
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism w... ORPHA:314632
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Hemiballismus, Tremor ORPHA:494526
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Tremor, Torticollis, Torsion dystonia, Dysphagia OMIM:224500
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Irritability, Hypertonia, Dystonia, Dysphagia, Choreoathetosis OMIM:261630
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Parkinson Disease 22, Autosomal Dominant
Depression, Resting tremor, Restless legs, Rigidity, Parkinsonism with favorable response to dopa... OMIM:616710
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyperactivity, Ataxia, Dyst... OMIM:615924
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Intellectual Developmental Disorder, Autosomal Recessive 48
Inappropriate laughter, Emotional lability, Tremor, Self-mutilation, Aggressive behavior OMIM:616269
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Urocanase Deficiency
Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia OMIM:276880
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Torticollis, Writer's cramp OMIM:614860
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Depression, Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Emotion... OMIM:615362
Coloboma Of Macula
Macular coloboma OMIM:120300
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... ORPHA:99657
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Chorea, Action tremor, Tremor, Hyperkinetic movements, Aggressive behavior, Parkinson... OMIM:619738
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower limb spasticity, Hy... ORPHA:251282
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Basal Ganglia Calcification, Idiopathic, 1
Depression, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal ... OMIM:213600
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Dysphagia, Intention tremor OMIM:302500
Parkinsonism With Polyneuropathy
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... OMIM:619279
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Emotional lability, Tremor, Rigidity, Dyst... OMIM:606159
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Huntington Disease-Like 2
Depression, Bradykinesia, Chorea, Action tremor, Rigidity, Irritability, Dystonia OMIM:606438
Parkinson Disease 17
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... ORPHA:420485
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Abnormal fear-induced behavior, Tremor, Irritability, Aggressive behavior, Parkin... ORPHA:3077
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia OMIM:615768
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Truncal ataxia, Nonprogressive cerebellar ataxia, Spastic dysarthria, ... ORPHA:314978
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Dystonia 28, Childhood-Onset
Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Torticolli... OMIM:617284
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Depression, Neuromuscular dysphagia, Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable ... ORPHA:240085
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Oppositional defiant disorder, Tremor, Dysmetria, Lower limb spasticity, Ataxia, Impul... OMIM:619028
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Scissor gait, Oroman... ORPHA:521406
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Attention deficit h... OMIM:619725
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Dystonia 7, Torsion
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... OMIM:602124
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Myoclonus, Tremor OMIM:615400
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Bradykinesia, Tremor, Hemiparesis, Parkinsonism, Dystonia ORPHA:306669
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis ORPHA:363710
Stxbp1-Related Encephalopathy
Spasticity, Tremor, Hyperactivity, Ataxia, Dystonia, Spastic tetraplegia ORPHA:599373
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Motor stereotypy OMIM:619470
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Aggressive behavior, Lower limb spasticity, Paraparesis, Hypertonia,... OMIM:612736
X-Linked Dystonia-Parkinsonism
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion... ORPHA:53351
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:300983
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait OMIM:600363
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia ORPHA:98763
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Depression, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia... OMIM:615157
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Spasticity, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Glut1 Deficiency Syndrome 2
Tremor, Irritability, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Lopes-Maciel-Rodan Syndrome
Spasticity, Bradykinesia, Bruxism, Tremor, Ankle clonus, Motor stereotypy, Abnormal pyramidal sig... OMIM:617435
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Irritability, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Brad... OMIM:261640
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Aggressive behavior, Parkinsonism, Dystonia ORPHA:329284
Gerstmann-Straussler Disease
Spasticity, Depression, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Emotional lability... OMIM:137440
Neurodegeneration With Brain Iron Accumulation 7
Tremor, Dysmetria, Lower limb spasticity, Ataxia, Dystonia, Dysphagia OMIM:617916
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Spinocerebellar Ataxia 42
Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait,... OMIM:616795
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Ataxia OMIM:617917
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign OMIM:610245
Spinocerebellar Ataxia 50
Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia OMIM:620158
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Tremor, Ataxia OMIM:618637
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Tremor OMIM:613608
Spinocerebellar Ataxia Type 27
Depression, Hand tremor, Limb ataxia, Gait ataxia, Tremor, Aggressive behavior, Truncal ataxia ORPHA:98764
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Depression, Pill-rolling tremor, Resting tremor, Hand tre... OMIM:612953
Perry Syndrome
Parkinsonism, Depression, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
Phenylketonuria
Depression, Lower limb spasticity, Tremor, Ataxia ORPHA:716
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Dysphagia, Tremor, Fasciculations ORPHA:276435
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig... OMIM:600116
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B... ORPHA:397946
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia,... OMIM:617145
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonis... OMIM:606693
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Inappropriate behavior, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, ... ORPHA:99750
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia OMIM:617836
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Tremor, Dysmetria, Rigidity, Hyperactivity OMIM:618090
Atypical Rett Syndrome
Restrictive behavior, Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Han... ORPHA:3095
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Depression, Tremor, Hemiparesis, Ataxia, Intention tremor OMIM:614307
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia OMIM:618587
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Myoclonic spasms, Ataxia, Dystonia,... ORPHA:79263
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Depression, Generalized dystonia, Tremor, Babinski sign, Hypertonia, Torticollis, ... OMIM:128100
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Spinocerebellar Ataxia With Epilepsy
Depression, Myoclonus, Gait ataxia, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive ... ORPHA:254881
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Spasticity, Bruxism, Tremor, Paroxysmal bursts of laughter, Hyperactivit... OMIM:618718
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Dysphagia, Progressive cerebellar at... OMIM:608768
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Ataxia, Compulsive behaviors, Titubation OMIM:619405
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Myoclonus, Tremor, Clumsiness, Dysphagia, Eyelid myoclonus, Frequent falls ORPHA:2590
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Resting tremor, Bruxism, Emotional lability, Tremor, Dys... OMIM:300055
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia OMIM:213200
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdiadochokinesis OMIM:618049
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Parkinson-Dementia Syndrome
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity OMIM:260540
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Irritability, Limb hypertonia, Dystonia, Dysphagia, Cho... OMIM:233910
Fragile X Tremor/Ataxia Syndrome
Depression, Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmetria, Intention tre... OMIM:300623
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Chorea, Cogwheel rigidity, Action tremor, Gait ataxia, Rigidity... OMIM:607483
Hsd10 Disease
Spastic paraparesis, Myoclonus, Tremor, Rigidity, Ataxia, Dysphagia, Choreoathetosis ORPHA:391417
Aicardi-Goutieres Syndrome 6
Dystonia, Irritability, Tremor, Rigidity OMIM:615010
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia ORPHA:139485
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Progressive spastic quadriplegia,... ORPHA:309246
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Tremor, Ataxia OMIM:616494
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Emotional lability, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia ORPHA:542310
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Dysphagia, Tremor, Fasciculations OMIM:313200
Hypermanganesemia With Dystonia 2
Spasticity, Generalized dystonia, Limb dystonia, Tremor, Ankle clonus, Dystonia, Opisthotonus, Pa... OMIM:617013
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinsonism, Head... OMIM:618877
Inherited Creutzfeldt-Jakob Disease
Depression, Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus,... ORPHA:282166
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Myoclonus, Tremor, Dysphagia, Frequent falls OMIM:159950
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdiadochokinesis OMIM:610185
Multiple System Atrophy, Parkinsonian Type
Depression, Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism,... ORPHA:98933
Multiple System Atrophy, Cerebellar Type
Depression, Neuromuscular dysphagia, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, A... ORPHA:227510
Late-Infantile/Juvenile Krabbe Disease
Spastic paraparesis, Neuromuscular dysphagia, Hemiplegia, Spastic diplegia, Emotional lability, T... ORPHA:206443
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Aggressive behavior, Parkinsonism, Dystonia OMIM:300894
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bradykinesia, Postural tremor, Rigidity, Clumsiness, Parkinsonism, Dystonia OMIM:619911
Parkinson Disease, Late-Onset
Depression, Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia, Dysphagia OMIM:168600
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Chorea, Leg dystonia, Emotion... ORPHA:157846
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia ORPHA:70594
Leukodystrophy, Hypomyelinating, 6
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:612438
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Dysphagia, Tremor OMIM:607734
Spinocerebellar Ataxia 2
Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysmetria, Ri... OMIM:183090
Behr Syndrome
Dysmetria, Tremor, Babinski sign, Dysphagia, Ataxia, Truncal ataxia, Progressive spasticity, Freq... OMIM:210000
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
4H Leukodystrophy
Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Ataxia,... ORPHA:289494
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Postural tremor, Dysmetria, Tremor, Babinski sign, Ataxia, Dystonia, Dysphagia OMIM:607694
Perry Syndrome
Depression, Inappropriate behavior, Bradykinesia, Tremor, Rigidity, Disinhibition, Parkinsonism, ... OMIM:168605
Classic Phenylketonuria
Self-injurious behavior, Depression, Hemiplegia, Paraplegia, Tremor, Attention deficit hyperactiv... ORPHA:79254
Spinocerebellar Ataxia, Autosomal Recessive 13
Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis OMIM:614831
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Neuromuscular dysphagia, Progressive extrapyramidal muscular rigidity, Axial dysto... ORPHA:240071
Spinocerebellar Ataxia Type 21
Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressive cerebell... ORPHA:98773
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... ORPHA:101
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Mohr-Tranebjaerg Syndrome
Dystonia, Spasticity, Dysphagia, Tremor OMIM:304700
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Limb ataxia, Gait ataxia, Tremor, Frequent falls OMIM:616719
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Tetraparesis, Limb dystonia, Myoclonus, Gait ataxia, Tremor,... ORPHA:363400
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Obsessive-compulsive trait, Tremor, Ataxia, Bradykinesia, Poor fine motor coordin... ORPHA:36387
Glutathionuria
Dysdiadochokinesis, Action tremor, Tremor OMIM:231950
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Depression, Bradykinesia, Myoclonus, Tr... ORPHA:199351
Brain Dopamine-Serotonin Vesicular Transport Disease
Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, Parkinsonism, Hy... ORPHA:352649
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Depression, Generalized dystonia, Intention tremor, Tremor, Progressive spast... OMIM:312080
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia ORPHA:1170
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Hand tremor, Incoordination, Dysmetria, Tremor, Babinski sign, Paraparesis, Dysphagia, Frequent f... OMIM:302800
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Depression, Generalized dystonia, Emotional lability, Tremor, Abnormality of extrapyr... OMIM:614298
Progressive Supranuclear Palsy
Blepharospasm, Depression, Bradykinesia, Emotional lability, Tremor, Rigidity, Irritability, Dyst... ORPHA:683
Nipah Virus Disease
Myoclonus, Tremor, Anorexia ORPHA:99825
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Tremor, Ankle clonus, Babinski sign, Apraxia, Abnormal pyramidal sign, Atte... ORPHA:52368
Ataxia With Vitamin E Deficiency
Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Hypertonia, Ataxia, Dystonia,... ORPHA:96
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Spasticity, Abnormality of coordination, Myoclonus, Tremor, Rigidity, Atte... ORPHA:442835
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Depression, Tremor, Aggressive behavior, Oculomotor apraxia, Hyper... OMIM:612716
Oculopharyngodistal Myopathy 4
Postural tremor, Dysphagia, Tremor OMIM:619790
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Dysmetria, Tremor, Aggressive behavior, Limb hypertonia, Hypertonia, Ataxia, Severe temper tantru... OMIM:617710
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... OMIM:613280
Cystathioninuria
Tremor ORPHA:212
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Tremor, Irritability, Babinski sign, Limb hypertonia, Dystonia, Dysphagia ORPHA:35708
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy... OMIM:614381
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Irritability, Parkinsonism, Hypertonia ORPHA:1578
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Chorea, Limb ataxia, Gait ataxia, Tremor, Oculomotor apraxia, Ataxia, Truncal ataxia, Dystonia OMIM:208920
Parkinson Disease 20, Early-Onset
Involuntary movements, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia, Eyelid apraxia, Dy... OMIM:615530
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus OMIM:618060
Parkinson Disease 1, Autosomal Dominant
Depression, Resting tremor, Bradykinesia, Myoclonus, Rigidity, Parkinsonism, Dystonia, Dysphagia OMIM:168601
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Ataxia OMIM:607876
Young-Onset Parkinson Disease
Spasticity, Depression, Bradykinesia, Restless legs, Tremor, Rigidity, Impulsivity, Dystonia, Agi... ORPHA:2828
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Phonic tics, Spasticity, Depression, Obsessive-compulsive trait, Tremor, Rigidity,... OMIM:234200
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Tetraplegia OMIM:616586
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... OMIM:618056
Tay-Sachs Disease
Mania, Depression, Decerebrate rigidity, Laryngeal dystonia, Incoordination, Fasciculations, Myoc... ORPHA:845
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia OMIM:602481
Aceruloplasminemia
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Tremor, Rigidity, Parkins... ORPHA:48818
Serotonin Syndrome
Myoclonus, Tremor, Rigidity, Irritability, Clonus, Hypertonia, Restlessness, Agitation ORPHA:43116
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Spasticity, Tetraparesis, Gait ataxia, Action tremor, Dysmetria, Trem... ORPHA:99027
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Progressive gait ataxia, Abnormal pyramida... OMIM:606002
Alternating Hemiplegia Of Childhood
Episodic hemiplegia, Tetraparesis, Oral-pharyngeal dysphagia, Anorexia, Chorea, Emotional labilit... ORPHA:2131
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia, Tremor OMIM:250800
O'Sullivan-Mcleod Syndrome
Tremor, Fasciculations ORPHA:99965
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Niemann-Pick Disease Type C
Speech apraxia, Limb dystonia, Axial dystonia, Abnormal pyramidal sign, Ataxia, Dysphagia, Depres... ORPHA:646
Supranuclear Palsy, Progressive, 1
Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Irritability, Parkinsonism, Bradyki... OMIM:601104
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal... ORPHA:791
Retinitis Pigmentosa 59
Rod-cone dystrophy, Cystoid macular edema OMIM:613861

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 Dhdds

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 Dhdds.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Selective Ablation of Dehydrodolichyl Diphosphate Synthase in Murine Retinal Pigment Epithelium (RPE) Causes RPE Atrophy and Retinal Degeneration. Cells (March 2020) Dhddstm1a(KOMP)Wtsi PMC7140717

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MGI Allele Allele Type Produced
Dhddstm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dhddstm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dhddstm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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