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Gene: Etnppl MGI:1919010

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Gene Summary

Name:
ethanolamine phosphate phospholyase
Synonyms:
1300019H02Rik,  Agxt2l1

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
tremors Etnpplem1(IMPC)Hmgu HOM Early adult 8.41×10-05
abnormal auditory brainstem response Etnpplem1(IMPC)Hmgu HOM   Early adult 9.02×10-05
abnormal tooth morphology Etnpplem1(IMPC)Hmgu HOM Early adult 8.49×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Etnppl mutations

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

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

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Hypobetalipoproteinemia, Familial, 2
Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:605019
Optic Atrophy 2
Optic atrophy, Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Epilepsy, Familial Adult Myoclonic, 1
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Gia... OMIM:601068
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor, High palate OMIM:309560
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, EEG with polyspike wave complexes, Tremor, Myoclonus, Jerk-locked pr... OMIM:615127
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Apolipoprotein C-Iii Deficiency
Decreased LDL cholesterol concentration, Increased HDL cholesterol concentration, Hypotriglycerid... OMIM:614028
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Epilepsy, Familial Adult Myoclonic, 3
Enhancement of the C-reflex, Tremor, Giant somatosensory evoked potentials, Myoclonus, Jerk-locke... OMIM:613608
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Autosomal Recessive Spastic Paraplegia Type 27
Babinski sign, Sensorineural hearing impairment, Dysdiadochokinesis, Spastic paraplegia, Abnormal... ORPHA:101007
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Spinocerebellar Ataxia Type 31
Hearing impairment, Spasticity, Tremor, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, EEG with polyspike wave complexes, Intention tremor, Morning myoclonic jerks, Ataxia... ORPHA:308
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Abnormality of extrapyramidal motor function, Tremor, Hearing impairment, Optic di... OMIM:165300
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Vocal tremor, Head tremor OMIM:618866
Spastic Paraparesis And Deafness
Hearing impairment, Spastic paraparesis, Tremor OMIM:312910
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204700
Parkinsonism With Polyneuropathy
Bradykinesia, Decreased compound muscle action potential amplitude, Resting tremor, Parkinsonism ... OMIM:619279
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Dystonia, Ataxia, Abnormal pyra... OMIM:614561
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis, Abnormal motor nerve conduction velocity OMIM:158580
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia OMIM:104530
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, EEG with generalized epileptiform discharges, Myoclonus OMIM:616187
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Bilateral sensorineural hearing impairment, Myoclonus, Intention t... ORPHA:2589
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Dentinogenesis Imperfecta, Shields Type Iii
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Chorea, Dystonia, Involuntary movements OMIM:611031
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abn... ORPHA:320401
Gingival Fibromatosis-Progressive Deafness Syndrome
Sensorineural hearing impairment, Gingival overgrowth, Gingival fibromatosis, Delayed eruption of... ORPHA:2027
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Spinocerebellar Ataxia 43
Limb ataxia, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Hearing impairment, Tremor OMIM:614369
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:616221
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Ankle clonus, Spastic parapare... OMIM:616053
Monomelic Amyotrophy
Fasciculations, Tremor, Abnormality of peripheral nerve conduction ORPHA:65684
Epilepsy, Progressive Myoclonic, 11
Intention tremor, Rigidity, Ataxia, Giant somatosensory evoked potentials, Myoclonus OMIM:618876
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Sensorineural hearing impairment, Enamel hypopla... OMIM:166750
Epilepsy, Familial Adult Myoclonic, 2
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Ble... OMIM:607876
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Interictal epileptiform activity, Tremor, Myoclonus OMIM:615400
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, EEG with polyspike wave complexes, Chorea, Truncal ataxia, Tremor,... OMIM:618587
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis, Writer's cramp OMIM:159900
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Prolonged somatosensory evoked potentials, Myoclonus, Hand t... OMIM:608105
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:612529
Benign Adult Familial Myoclonic Epilepsy
EEG abnormality, Hand tremor, Myoclonus ORPHA:86814
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Tremor, Adult ... ORPHA:1368
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization OMIM:614832
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls OMIM:616921
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia ORPHA:309169
Spinocerebellar Ataxia 37
Tremor, Ataxia, Frequent falls OMIM:615945
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnorm... ORPHA:2972
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Tremor, Chorea ORPHA:494526
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Amelogenesis Imperfecta, Type If
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color OMIM:616270
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth OMIM:615887
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Intellectual Developmental Disorder, Autosomal Recessive 14
Narrow palate, Intention tremor OMIM:614020
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... ORPHA:49042
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia OMIM:104510
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction... ORPHA:216873
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic... OMIM:128230
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Dystonia 23
Torticollis, Writer's cramp, Axial dystonia, Limb dystonia, Head tremor, Myoclonus OMIM:614860
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Hypsarrhythmia, Spasticity, Tremor, EEG with focal epilepti... ORPHA:599373
Primary Dystonia, Dyt2 Type
Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involuntary movements, Gener... ORPHA:99657
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst... OMIM:607317
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia OMIM:615034
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Mohr-Tranebjaerg Syndrome
Optic atrophy, Babinski sign, Prelingual sensorineural hearing impairment, Oromandibular dystonia... ORPHA:52368
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Ravine Syndrome
Spasticity, Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor OMIM:182980
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Limb dystonia, Hearing impairment, Ataxia, Hypodontia OMIM:620270
Spinocerebellar Ataxia 50
Apraxia, Chorea, Head tremor, Action tremor, Hearing impairment, Ataxia, Myoclonus, Postural trem... OMIM:620158
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia Type 37
Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Sensorineural hearing impairment, Cogwheel... ORPHA:363710
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Postural tremor ORPHA:210571
Tooth Agenesis, Selective, 9
Selective tooth agenesis, Microdontia, Taurodontia OMIM:617275
Parkinson Disease 17
Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Retrognathia, Spasticity, Tremor, High palate, Abnormal pinna morphology, Ataxia OMIM:300983
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Pa... OMIM:604326
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Abnormal dental enamel morpholo... ORPHA:1946
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Rigidity, Slurred speech OMIM:609161
Failure Of Tooth Eruption, Primary
Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth OMIM:125350
Developmental And Epileptic Encephalopathy 97
Hypsarrhythmia, Tremor OMIM:619561
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, EEG with spike-wave complexes (2.5-3.5 Hz), Myoclonus OMIM:616366
Migraine, Familial Hemiplegic, 1
Hemiplegia, Hemiparesis, Tremor, Ataxia OMIM:141500
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Abnormal amplitude of pattern rev... OMIM:125250
X-Linked Charcot-Marie-Tooth Disease Type 1
Hearing impairment, Tremor, Ataxia, Abnormal nerve conduction velocity ORPHA:101075
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Intention tremor, Action t... ORPHA:98762
Leukodystrophy, Hypomyelinating, 5
Babinski sign, Delayed brainstem auditory evoked response conduction time, Truncal titubation, In... OMIM:610532
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism OMIM:605909
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Torticollis, Cleft palate, Abnormal mandible morphology, Natal tooth OMIM:217150
Intellectual Developmental Disorder, Autosomal Recessive 48
Long philtrum, Macrotia, Mandibular prognathia, Tremor OMIM:616269
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia, EEG abnormality OMIM:617836
Corticobasal Syndrome
Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo... ORPHA:454887
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Ankle clonus OMIM:615768
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Lower limb spasticity, ... ORPHA:251282
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... ORPHA:314978
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Dystonia 28, Childhood-Onset
Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial dystonia, Dyst... OMIM:617284
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... ORPHA:2791
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Tinnitus, Bilateral sensorineural hearing impairment, Dentinogenesis imperfecta, High-frequency h... OMIM:605594
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Babinski sign, Hypertonia, Decreased sensory nerve conduction velocity, Spasticity... OMIM:609260
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
X-Linked Charcot-Marie-Tooth Disease Type 4
Hearing impairment, Decreased nerve conduction velocity, Tremor, Ataxia ORPHA:101078
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Amelogenesis imperfecta, Limb hypertonia, Delayed eruption of teeth, Spasticity, Involuntary move... OMIM:615905
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Dystonia 7, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,... OMIM:602124
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
EEG abnormality, Tremor, Ataxia, Gait ataxia OMIM:617831
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Abnormality of the dentition, Ataxia, Myoclonus OMIM:616494
Spinocerebellar Ataxia 7
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ... OMIM:164500
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Orthostatic hypotension, Resting tremor, Parkinsonism with favorable response to do... OMIM:616710
Caribbean Parkinsonism
Bradykinesia, Orthostatic hypotension, Apraxia, Abnormal autonomic nervous system physiology, Act... ORPHA:97355
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Parkinsonism OMIM:128235
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Dystonia, Parkinsonism, Li... OMIM:213600
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, High palate, Absent brainstem auditory responses,... OMIM:617519
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:620482
Combined Oxidative Phosphorylation Deficiency 45
Low-set ears, Tremor, High palate, Ataxia OMIM:618951
Dentinogenesis Imperfecta 1
Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta OMIM:125490
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Autosomal Spastic Paraplegia Type 58
Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, Tremor, Tituba... ORPHA:397946
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait ataxia, Hearing impairment, Dys... OMIM:617145
Cleft Lip/Palate
Orofacial cleft, Recurrent otitis media, Abnormal number of permanent teeth, Palate fistula, Bila... ORPHA:199306
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
High palate, Abnormal auditory evoked potentials, Frequent falls, Abnormality of visual evoked po... OMIM:617523
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Dystonia, Myoclonus OMIM:619651
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Sensorineural hearing impairment, Tremor ORPHA:66633
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Tremor, Clonus, Spastic paraplegia OMIM:600363
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus ORPHA:98763
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Tremor, Paraparesis, Hearing impairment, Ataxia ORPHA:99014
X-Linked Dystonia-Parkinsonism
Bradykinesia, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with favorable response to d... ORPHA:53351
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Hypertonia, Delayed brainstem auditory evoked response conduction time, Lower limb... OMIM:616881
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits OMIM:619787
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Optic atrophy, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Dyst... ORPHA:329284
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Tongue fasciculations, Tremor, Abnormal sensory nerve conduction velocity ORPHA:276435
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Dystonia, Myoclonus, Choreoathetosis OMIM:261630
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Dystonia, ... OMIM:606703
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysmetria OMIM:618093
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Epilepsy, Progressive Myoclonic, 6
EEG with spike-wave complexes, Tremor, Ataxia, Myoclonus OMIM:614018
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Ataxia, EEG abnormality, Choreoathetosis OMIM:612126
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615362
4H Leukodystrophy
Optic atrophy, Delayed eruption of teeth, Abnormality of extrapyramidal motor function, Dysdiadoc... ORPHA:289494
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Abnormal autonomic nervous system ... OMIM:618049
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Gai... ORPHA:99027
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, To... OMIM:601596
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Poor fine motor coordination, EEG with generalized slow activity grad... ORPHA:79263
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Hearing impairment, Dystonia, Myoclonus, Abnormal pyramida... ORPHA:139485
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Overjet, Thick lower lip vermilion, Protruding ear, Short philtrum, Dental crowding... OMIM:618342
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Tremor, Gait ataxia, Dysmetria OMIM:610245
Multiple System Atrophy
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Abnormal autonomic n... ORPHA:102
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Supernumerary tooth, Abnormal antihelix morphology, Carious teeth, Micrognathia, Conductive heari... ORPHA:3145
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Pelizaeus-Merzbacher Disease, Classic Form
EEG with abnormally slow frequencies, Abnormality of extrapyramidal motor function, Spasticity, A... ORPHA:280219
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus ORPHA:324588
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Delayed eruption of teeth, Oligodontia, Tremor, Spasticity, Dysdiadochokinesis, Ga... OMIM:614381
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Cogwheel rigidity, Gait... OMIM:600116
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Phenylketonuria
EEG abnormality, Tremor, Ataxia, Lower limb spasticity ORPHA:716
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Apraxia, Spasticity, Tremor, Gait ataxia, EEG abnormality, Dysmetria OMIM:617810
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... ORPHA:363654
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Fasciculations, Tongue fasciculations, Truncal ataxia, Head tremor, I... ORPHA:276198
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,... OMIM:606159
Epidermolysis Bullosa, Junctional 1A, Intermediate
Enamel hypoplasia, Carious teeth, Hypodontia, Oral mucosal blisters OMIM:226650
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Retrognathia, Gingival overgrowth, Tremor, High palate, Bilateral sensorineural he... OMIM:619422
Developmental And Epileptic Encephalopathy 42
Hypertonia, Tremor, Athetosis, Ataxia, EEG abnormality OMIM:617106
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, High palate, Spastic ... OMIM:300055
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased distal sensory nerve action potential, Decreased sensory nerve conduction velocity, Dec... ORPHA:206594
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, EEG with occipital epil... ORPHA:254881
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism OMIM:619738
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Sensorineural hearing impairment, Tremor, Limb myoclonus, Frequent falls, High-... ORPHA:2590
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Truncal ataxia, Dysdiadochokinesis, Tremor, Sensorineural hearing impairment, Gait ataxia, Intent... OMIM:610185
Multiple System Atrophy, Parkinsonian Type
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Abnormal autonomic n... ORPHA:98933
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Optic atrophy, Abnormality of dental ... ORPHA:1873
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Retrognathia, Hypertonia, Widely spaced teeth, Tremor, Low-set ears, Gait ataxia, Ataxia, Large f... OMIM:619092
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Babinski sign, Oligodontia, Tremor, Spasticity, Dystonia, Ataxia, Hypodontia, Dysm... OMIM:607694
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Adult Krabbe Disease
Hoffmann sign, Babinski sign, Delayed brainstem auditory evoked response conduction time, Spastic... ORPHA:206448
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Hsd10 Disease
Optic atrophy, Tremor, Hearing impairment, Rigidity, Ataxia, Myoclonus, Spastic paraparesis, Chor... ORPHA:391417
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Oculomotor apraxia, Spasticity, Tremor, Rigidity, Dystonia, Ataxia, Choreoathetosis OMIM:612438
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Dysmetria OMIM:213200
Neuronal Intranuclear Inclusion Disease
Decreased sensory nerve conduction velocity, Tremor, Rigidity, Ataxia, Decreased motor nerve cond... OMIM:603472
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Tremor OMIM:607734
Crigler-Najjar Syndrome Type 1
Hearing impairment, Tremor ORPHA:79234
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Retrognathia, Hypertonia, Short philtrum, Tremor, Everted lower lip vermilion, Ataxia, Large fles... OMIM:619556
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism OMIM:260540
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:619028
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Tremor, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Hemiplegia/hemiparesis, Abnormality of visual evoked pote... ORPHA:96
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal seventh cranial physiology, Limb fasciculations, Tremor, Abnormal peripheral action pote... ORPHA:90117
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Dystonia, Ataxia, Dysmetria OMIM:617916
Multiple System Atrophy, Cerebellar Type
Bradykinesia, Limb ataxia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Abnorma... ORPHA:227510
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, ... ORPHA:240085
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidit... OMIM:618877
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Irregular dentition, Wide ... OMIM:619260
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Cystathioninuria
Abnormal pinna morphology, Tremor ORPHA:212
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Chronic otitis media, Protruding ear, Tremor, High palate, Low-set ears, Hearing impairment, Micr... ORPHA:480907
Cockayne Syndrome Type 1
Optic atrophy, Hypoplasia of the primary teeth, Lower limb spasticity, Mandibular prognathia, Tre... ORPHA:90321
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park... OMIM:619725
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Oromandibular dystonia, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia, ... ORPHA:101
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Limb hypertonia, Hypsarrhythmia, EEG with multifocal slow activity, Spasticity, Tr... ORPHA:442835
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor... OMIM:261640
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Sensorineural hearing impairment, Abnormal auditory evoked potentials,... OMIM:109120
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Tremor by anatomical site, Extrapyramidal muscular rigidity, Tr... ORPHA:99750
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Incoordination, Sensorineural hearing impairment, Tremor, Frequent falls, Parapare... OMIM:302800
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Narrow palate, Thick lower lip vermilion, Tremor, Narrow mouth, Carious teeth ORPHA:457365
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Tremor, Facial palsy, Frequent falls, Myoclonus OMIM:159950
Myoclonic-Astatic Epilepsy
Thick lower lip vermilion, EEG with polyspike wave complexes, Interictal epileptiform activity, E... ORPHA:1942
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Rigidity, Dystonia ORPHA:70594
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Spasticity, Tremor, Low-set ears, Downturned corners of mouth, EEG abnormality OMIM:618718
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Torticollis, Spasticity, Parkinsonism with favorable res... OMIM:606693
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares... ORPHA:282166
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting tremor, Ankle clonus... OMIM:612953
Dystonia 1, Torsion, Autosomal Dominant
Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticollis, Torsion dystonia,... OMIM:128100
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Spasticity, Tremor, Dystonia, Progressive sensorine... OMIM:304700
Atypical Rett Syndrome
Pill-rolling tremor, Apraxia, Spasticity, Tremor, Abnormal autonomic nervous system physiology, G... ORPHA:3095
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Decreased nerve conduction velocity, Fasciculations, Sensorineural hearing impairmen... ORPHA:101085
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Spastic tetraplegia, Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Syngap1-Related Developmental And Epileptic Encephalopathy
Thin vermilion border, Tremor, Narrow mouth, High palate, Anteverted ears, Macrotia, Wide mouth, ... ORPHA:544254
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Narrow palate, Babinski sign, Hypertonia, Optic atrophy, Tremor, Gait ataxia, Intention tremor, A... OMIM:616505
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration OMIM:222765
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Dystonia, Parkinson... OMIM:300894
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Oculomotor apraxia, Spasticity, Tremor, Gait ataxia, EEG abnormality, Dysmetria ORPHA:529665
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Interictal epil... OMIM:218000
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Tremor, Gait ataxia, Ataxia, Abnormal pyramidal sign, Dysmetria OMIM:614831
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit... ORPHA:1811
Behr Syndrome
Optic atrophy, Babinski sign, Truncal ataxia, Tremor, Progressive spasticity, Frequent falls, Ata... OMIM:210000
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Intention tremor, Hemiparesis, Ataxia OMIM:614307
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia,... ORPHA:98773
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Spasticity, Tremor, Frequent falls, Gait ataxia OMIM:616719
Developmental And Epileptic Encephalopathy 4
Hypsarrhythmia, Tremor, Spastic paraplegia, Spastic tetraplegia, Choreoathetosis, EEG with burst ... OMIM:612164
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, EEG with spike-wave complexes, Incoordination, Poor fine motor coordination, Tremor... ORPHA:36387
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Babinski sign, Tremor, Low-set ears ORPHA:477673
Glutathionuria
Action tremor, Dysdiadochokinesis, Tremor OMIM:231950
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Tremor, Ataxia, Spastic ataxia, Abnormal pyramidal sign OMIM:616795
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Limb dystonia, A... ORPHA:352649
Developmental And Epileptic Encephalopathy 46
Hypsarrhythmia, Tremor, Limb hypertonia OMIM:617162
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Spasticity, Tremor, Poor motor coordination, Gait ataxia, Ataxia, Dysmetria ORPHA:1170
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Oromandibular dystonia, Generalized dystonia, Scissor gait, Spastici... OMIM:617013
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Abnormal pyramidal sign OMIM:608768
Usher Syndrome Type 2
Abnormality of dental color, Abnormal dental enamel morphology, Sensorineural hearing impairment,... ORPHA:231178
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Optic atrophy, Babinski sign, Hypertonia, Progressive cerebellar ataxia, Truncal ataxia, Poor fin... ORPHA:137898
Arthrogryposis, Distal, Type 2A
Dental crowding, Mandibular prognathia, Whistling appearance, High palate, Narrow mouth, Abnormal... OMIM:193700
Barth Syndrome
Elevated monolysocardiolipin/cardiolipin ratio OMIM:302060
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Spasticity, Abnormal autonomic nervous system physiology, Limb dystonia, Rigidity... OMIM:616840
Leukoencephalopathy With Ataxia
Limb ataxia, Action tremor, Optic neuropathy, Gait ataxia OMIM:615651
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Focal EEG discharges with secondary generalization, Lower limb spasticity, Resting tremor, Tremor... ORPHA:3077
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Thin vermilion border, Hypertonia, Truncal titubation, Limb hypertonia, Tremor, High palate, Exag... OMIM:618056
Peroxisome Biogenesis Disorder 5B
Oculomotor apraxia, Sensorineural hearing impairment, Tremor, Ataxia, Dysmetria OMIM:614867
Cerebrotendinous Xanthomatosis
Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Resting tremor, Premature loss... ORPHA:909
Pelizaeus-Merzbacher Disease
Optic atrophy, Writer's cramp, Tremor, Intention tremor, Spastic paraplegia, Hearing impairment, ... OMIM:312080
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Abnormal auditory evoked potentials, Cerebral palsy ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Abnormal auditory evoked potentials, Cerebral palsy ORPHA:529808
Oculopharyngodistal Myopathy 4
Postural tremor, Tremor, High palate OMIM:619790
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... OMIM:137440
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Dys... OMIM:168600
Hypermanganesemia With Dystonia 1
Bradykinesia, Abnormality of extrapyramidal motor function, Poor fine motor coordination, Tremor,... OMIM:613280
Pyruvate Dehydrogenase Deficiency
Spasticity, Tremor, High palate, Cerebral palsy, Dystonia, Ataxia, Abnormal pyramidal sign, Long ... ORPHA:765
Perry Syndrome
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism ORPHA:178509
Tetanus
Hypertonia, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Opisthotonus, Spastic... ORPHA:3299
Spinocerebellar Ataxia Type 27
Limb ataxia, Truncal ataxia, Tremor, Gait ataxia, Hand tremor ORPHA:98764
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Hypertonia, Limb hypertonia, Tremor, Athetosis, Dystonia, Ataxia, Long philtrum, D... OMIM:617710
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Ataxia, Titubation, Dysmetria OMIM:619405
Lacrimoauriculodentodigital Syndrome 2
Conical tooth, Microtia, Microdontia, Hearing impairment, Carious teeth, Hypodontia, Cupped ear OMIM:620192
Parkinson Disease 8, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607060
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Truncal ataxia, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia OMIM:208920
Cherubism
Narrow palate, Marcus Gunn pupil, Oligodontia, Optic neuropathy, Jaw swelling, Dental malocclusio... OMIM:118400
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Tremor, Spasticity, Rigidity OMIM:176500
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Oculomotor apraxia, Incoordination, Tremor, Ataxia, Abnormal pyramidal sign OMIM:618060
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor OMIM:313200
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Mandibular ... OMIM:216400
Den Hoed-De Boer-Voisin Syndrome
Amelogenesis imperfecta, Multifocal epileptiform discharges, Widely spaced teeth, Lower limb spas... OMIM:619229
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Torticollis, Short-segment aganglioni... OMIM:609136
Trisomy 10P
Thin vermilion border, Retrognathia, Orofacial cleft, Low voltage EEG, EEG with focal spikes, Hig... ORPHA:171929
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Fasciculations, Tremor, Facial diplegia, Frequent falls, Par... ORPHA:329478
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Paraplegia, Truncal ataxia, Spasticity, Tremor, Sensorineural hearing impairment, Ab... OMIM:105210
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism with fav... ORPHA:240071
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Mandibular ... OMIM:133540
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Truncal ataxia, Mandibular prognathia, Tremor, High palate, Dysdiadochokinesis, Hear... OMIM:617675
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Tremor, Bilateral sensorineural hearing impairment ORPHA:397744
Mogs-Cdg
Optic atrophy, Retrognathia, Sensorineural hearing impairment, High palate, Absent brainstem audi... ORPHA:79330
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Babinski sign, Sensorineural hearing impairment, Spasticity, Tremor, Optic disc pallor, Spastic p... OMIM:618527
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Widely spaced teeth, Mandibular prognathia, Tremor, Protruding tongue, Wide mouth, Ataxia, Myoclo... ORPHA:98794
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Oculomotor apraxia, Chorea, Tremor, Head tremor, Gait ataxia, Dystonia, Progressive ... OMIM:606002
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor functio... OMIM:614298
Migraine, Familial Hemiplegic, 2
Apraxia, Tremor, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysmetria OMIM:602481
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Tetraplegia, Tremor, Spasticity, Spastic paraplegia, Pseudobulbar paralysis OMIM:616586
Adult-Onset Dystonia-Parkinsonism
Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor... ORPHA:199351
Aceruloplasminemia
Limb ataxia, Torticollis, Chorea, Tremor, Blepharospasm, Craniofacial dystonia, Gait ataxia, Invo... ORPHA:48818
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Involuntary movements, Rigidity, Dystonia, Parkinsonism, Eyelid apraxia OMIM:615530
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Tremor, Opisthotonus OMIM:250800
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Orthostatic hypotension, Tremor, Abnormal autonomic nervous system p... OMIM:146500
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor ORPHA:99965
Mend Syndrome
Limb hypertonia, High palate, Abnormal auditory evoked potentials, Low-set ears, Asymmetry of the... ORPHA:401973
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Enamel-Renal Syndrome
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... ORPHA:1031
Orofaciodigital Syndrome Type 1
Chronic otitis media, Broad alveolar ridges, Ataxia, Accessory oral frenulum, Tongue nodules, Lip... ORPHA:2750
Tyrosinemia Type 2
Tremor, Ataxia, Malar flattening ORPHA:28378
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism ORPHA:1578
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Incoordination, Decerebrate rigidity, Tremor, Progressive sp... ORPHA:512
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Oculomotor apraxia, Spasticity, Tremor, Frequent falls, Dystonia, Ataxia, Chor... OMIM:612716
Neurodegeneration With Brain Iron Accumulation 1
Bradykinesia, Babinski sign, Optic atrophy, Abnormality of extrapyramidal motor function, Spastic... OMIM:234200
Early Infantile Epileptic Encephalopathy
EEG with spike-wave complexes, Hypsarrhythmia, Spasticity, Tremor, Uni- and bilateral multifocal ... ORPHA:1934

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 Etnppl

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 Etnppl.

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

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
Etnppltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Etnppltm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Etnpplem1(IMPC)Hmgu Exon Deletion Mice

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