Gene Summary

Name:
sepiapterin reductase
Synonyms:
N/A

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 neutrophil cell number Sprem1(IMPC)H HET Early adult 2.81×10-07
increased grip strength Sprem1(IMPC)H HET   Early adult 7.56×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Spr 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 Spr by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Growth delay, Bradykinesia, Limb hypertonia, Oculogyric crisis, Small for gesta... ORPHA:70594
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Tremor, Dystonia, Growth delay, Oculomotor apraxia, Ataxia, Hype... OMIM:612716

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Tremor, Maturity-onset diabetes of the young, Hyperphenylalaninemia, Abnormal circulating neopter... ORPHA:1578
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Acid-Labile Subunit Deficiency
Reduced insulin like growth factor binding protein acid labile subunit level, Delayed puberty, Mi... OMIM:615961
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Transient hyperphenylalaninemia, Cogwheel rigidity, Gait ata... OMIM:128230
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign, Elevated ci... OMIM:160120
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Ankle clonus, Bradykinesia, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Dystonia, Bradykinesia, Parkinsonism, Elevated circulating creatine ... OMIM:612953
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Unsteady gait, Parkinsonism,... ORPHA:210571
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Choreoathetosis, Dystonia, Hyperphenylalaninemia, Hypertonia, Ataxia, Bradykinesia, Small... OMIM:261640
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... OMIM:617013
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... ORPHA:306692
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait, Short stature, Hemidys... OMIM:619052
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Huntington Disease-Like 2
Dystonia, Chorea, Action tremor, Weight loss, Bradykinesia, Rigidity OMIM:606438
Autosomal Dominant Spastic Paraplegia Type 3
Growth delay, Gait disturbance, Lower limb hypertonia, Toe walking, Ankle clonus, Bradykinesia, L... ORPHA:100984
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Bradykinesia, Action tremor, Parkinsonism, Babinski sign OMIM:300423
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Lethargy, Abnormality of extrapyramidal motor function, Ataxia, Bra... ORPHA:101150
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Weight loss, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:248111
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:605909
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:613643
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Parkinsonism, Dysmetria OMIM:618317
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Dystonia, Ataxia, Bradykinesia, Short stature, Rigidity OMIM:617836
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Bradykinesia, Craniofacial dystonia, Torticollis, Parkinsonism, Limb... ORPHA:71517
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb ataxia, Hypertonia, Bradykinesia, Parkinsonism, Generalized dystonia, Babinski sign, Limb dy... OMIM:618824
Infantile Dystonia-Parkinsonism
Abnormal circulating carboxylic acid concentration, Dystonia, Chorea, Hypertonia, Abnormal pyrami... ORPHA:238455
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia... OMIM:300894
Dystonia 16
Postural tremor, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, Laryngeal dystonia, Par... OMIM:612067
Autosomal Dominant Striatal Neurodegeneration
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia ORPHA:228169
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic paraparesis, Gait disturbance, Toe walking, Bradykinesia, Spastic tetraplegia, ... OMIM:615643
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Fasciculations, Rigidity, Spasticity OMIM:183050
Spinocerebellar Ataxia 17
Dystonia, Apraxia, Gait ataxia, Chorea, Limb ataxia, Ataxia, Bradykinesia, Parkinsonism, Myoclonu... OMIM:607136
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Abnormal pyramidal sign, Resting tremor, Ataxia, Bradykinesia, P... OMIM:617225
Striatal Degeneration, Autosomal Dominant 1
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia OMIM:609161
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Hypertonia, Bradykinesia, Limb hypertonia, Oculogyric crisis, Parkinsonism, Attention d... OMIM:617384
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Choreoathetosis, Dystonia, Chorea, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, L... OMIM:606159
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Huntington Disease
Inability to walk, Decreased body mass index, Dystonia, Clumsiness, Difficulty walking, Chorea, G... ORPHA:399
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Lethargy, Ataxia, Bradykinesia OMIM:618683
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Bradykinesia, Weakness due to upper motor neuron dysf... ORPHA:97355
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Growth delay, Bradykinesia, Limb hypertonia, Oculogyric crisis, Small for gesta... ORPHA:70594
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Tremor, Dystonia, Rigidity, Spastic paraparesis, Abnormali... OMIM:613280
Dystonia 12
Dystonia, Bradykinesia, Unsteady gait, Torticollis, Parkinsonism OMIM:128235
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia ORPHA:306686
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Hypertonia, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Unsteady gait,... OMIM:617435
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Rett Syndrome
Limb apraxia, Inability to walk, Dystonia, Difficulty walking, Increased serum pyruvate, Increase... ORPHA:778
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida... OMIM:213600
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism ORPHA:306669
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Oculomotor apr... ORPHA:99750
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Spastic paraparesis, Bradykinesia, Parkinsonism, Rigidity ORPHA:329284
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Choreoathetosis, Abnormality of extrapyramidal motor function, Chorea, Hypertonia, Hype... ORPHA:13
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Hyperglycinemia, Bradykinesia OMIM:619063
Huntington Disease
Chorea, Gait ataxia, Rigidity, Bradykinesia OMIM:143100
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Parkinsonism, Falls, Short stepped shuffling gait, Shuffling gait ORPHA:412066
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medica... OMIM:606693
Spinal Muscular Atrophy, Jokela Type
Elevated circulating creatine kinase concentration, Fasciculations, Tremor, Difficulty walking OMIM:615048
Spastic Paraparesis And Deafness
Hypogonadism, Tremor, Spastic paraparesis, Short stature OMIM:312910
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Dystonia, Ataxia, Brady... OMIM:615157
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Apraxia, Bradykinesia, Rigidity, Shuffling gait, Spasticity OMIM:221820
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic medication, Ataxia, Brady... ORPHA:254886
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Childhood-Onset Nemaline Myopathy
Slender build, Clumsiness, Fatigable weakness of bulbar muscles, Difficulty walking, Mildly eleva... ORPHA:171439
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... ORPHA:363654
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Slurred speech, Poor fine motor coordination, Ga... ORPHA:157941
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... ORPHA:98807
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Hyperphenylalaninemia, Bh4-Deficient, D
Hyperphenylalaninemia, Transient hyperphenylalaninemia, Hypertonia, Tremor OMIM:264070
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity OMIM:617018
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Dystonia, Hypertonia, He... OMIM:618877
Neuroferritinopathy
Dystonia, Palatal myoclonus, Chorea, Difficulty walking, Blepharospasm, Resting tremor, Bradykine... ORPHA:157846
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Spastic paraparesis, Hand tremor, Gait disturbance, Bradykinesia, Parkinsonism, Babinsk... ORPHA:289560
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Limb ataxia, Oculomotor apraxia, Bradykinesia, Action tremor... OMIM:183090
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Hypothyroidism, Poor fine motor coordination, R... OMIM:300623
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Autosomal Dominant Dopa-Responsive Dystonia
Postural tremor, Transient hyperphenylalaninemia, Gait ataxia, Abnormality of extrapyramidal moto... ORPHA:98808
Classic Progressive Supranuclear Palsy Syndrome
Tremor, Dystonia, Axial dystonia, Parkinsonism with favorable response to dopaminergic medication... ORPHA:240071
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Chorea, Slurred speech, Gait disturbance, Bradykin... ORPHA:98755
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hypertriglyceridemia, Myoclonus,... OMIM:615924
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Central hypothyroidism, Ataxia, Postnatal growth retardation, Short stature, Hypogonadism OMIM:616113
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Multiple System Atrophy
Postural tremor, Gait ataxia, Axial dystonia, Abnormal pyramidal sign, Resting tremor, Bradykines... ORPHA:102
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus, Dystonia OMIM:611092
Adult-Onset Nemaline Myopathy
Difficulty walking, Mildly elevated creatine kinase, Bradykinesia ORPHA:171442
Gerstmann-Straussler Disease
Tremor, Apraxia, Truncal ataxia, Gait ataxia, Limb ataxia, Weight loss, Bradykinesia, Parkinsonis... OMIM:137440
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Spastic hemiparesis, Slurred speech, Chorea, Abnormal pyramidal ... ORPHA:282166
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Spastic tetraparesis, Failure to thrive, Bradykinesia OMIM:614924
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Gait ataxia, Limb ataxia, Mildly elevated creatine kinase, Bradykinesia, Parkinsonism, Elevated c... OMIM:258450
Myopathy With Extrapyramidal Signs
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Isolated Growth Hormone Deficiency, Type V
Postnatal growth retardation, Truncal obesity, Short stature, Abdominal obesity, Decreased respon... OMIM:618160
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Multiple System Atrophy, Cerebellar Type
Postural tremor, Gait ataxia, Axial dystonia, Limb ataxia, Abnormal pyramidal sign, Resting tremo... ORPHA:227510
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Glutathionuria
Tremor OMIM:231950
Progressive Supranuclear Palsy
Tremor, Dystonia, Blepharospasm, Bradykinesia, Unsteady gait, Falls, Abnormal synaptic transmissi... ORPHA:683
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Gait ataxia, Axial dystonia, Abnormal pyramidal sign, Resting tremor, Bradykines... ORPHA:98933
Perry Syndrome
Tremor, Dystonia, Akinesia, Weight loss, Bradykinesia, Parkinsonism, Short stepped shuffling gait... OMIM:168605
Machado-Joseph Disease
Dystonia, Truncal ataxia, Abnormality of extrapyramidal motor function, Limb ataxia, Ataxia, Brad... OMIM:109150
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Hypogonadism, Sp... OMIM:615768
Myopathy, Spheroid Body
Elevated circulating creatine kinase concentration, Tremor, Waddling gait, Broad-based gait OMIM:182920
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Gait disturbance, Abnormal pyramidal sign, Oromandibular dystonia, Pa... ORPHA:216873
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Hyperphenylalaninemia, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Tremor, Dystonia, Growth delay, Oculomotor apraxia, Ataxia, Hype... OMIM:612716
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Manganese Poisoning
Postural tremor, Cogwheel rigidity, Dystonia, Akinesia, Abnormality of extrapyramidal motor funct... ORPHA:306682
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Gait ataxia ORPHA:423296
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Dystonia, Gait ataxia, Chorea, Gait disturbance, Resting tremor, Bradykinesia, Progre... ORPHA:225147
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Apraxia, Ataxia, Spasticity OMIM:615889
Adult-Onset Dystonia-Parkinsonism
Abnormal circulating creatine kinase concentration, Eyelid apraxia, Tremor, Clumsiness, Dystonia,... ORPHA:199351
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Incoordination, Poor fine motor coordination, Ataxia, Bradykinesia ORPHA:36387
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Elevated circulating creatine kinase concentration, ... ORPHA:276435
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Tremor, Ataxia, Spasticity OMIM:614307
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Pa... OMIM:607060
Postencephalitic Parkinsonism
Cogwheel rigidity, Akinesia, Abnormal pyramidal sign, Resting tremor, Bradykinesia, Oculogyric cr... ORPHA:97349
Leber Optic Atrophy And Dystonia
Dystonia, Bradykinesia, Upper motor neuron dysfunction, Athetosis, Spasticity OMIM:500001
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia, Short stature OMIM:617862
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Epilepsy, Progressive Myoclonic, 6
Tremor, Difficulty walking, Ataxia, Myoclonus, Elevated circulating creatine kinase concentration OMIM:614018
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Elevated circulating creatine kinase concentration, Stepp... OMIM:618387
Dravet Syndrome
Cogwheel rigidity, Incoordination, Progressive gait ataxia, Poor fine motor coordination, Bradyki... ORPHA:33069
Spinocerebellar Ataxia Type 13
Gait ataxia, Clumsiness, Difficulty walking, Limb ataxia, Bradykinesia, Torticollis, Titubation, ... ORPHA:98768
Waisman Syndrome
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Shuffling gait OMIM:311510
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Primary Progressive Freezing Gait
Postural tremor, Difficulty walking, Bradykinesia, Babinski sign, Clonus, Frequent falls, Rigidit... ORPHA:75567
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Fatiguable weakness of proximal limb muscles, Elevated circulating cre... ORPHA:90117
Autosomal Recessive Spastic Paraplegia Type 77
Dystonia, Paroxysmal dystonia, Progressive spastic paraplegia, Bradykinesia, Weakness due to uppe... ORPHA:466722
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Short stature, Obesity OMIM:614947
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Short stature... OMIM:213200
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Short stature, Dysmetria OMIM:616291
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Parkinsonian-Pyramidal Syndrome
Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Myoclonus, Babinski sign, Intentio... ORPHA:171695
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Dystonia 11, Myoclonic
Writer's cramp, Tremor, Myoclonus, Torticollis OMIM:159900
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Failure to thrive OMIM:618951
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Gait disturbance, Ataxia, Postnatal growth retardat... ORPHA:391417
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Br... OMIM:270500
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gait disturbance, Resting tremor, Bradykinesia, Parkinsonism, Myoclonus, Rigidity, Shuf... OMIM:168601
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Parkinson Disease, Late-Onset
Tremor, Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Short stepped shuffling gait, Rigidity OMIM:168600
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Tremor, Dystonia, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait OMIM:615530
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Ataxia, Parkinsonism, Cachexia, Dysmetria, Babinski sign OMIM:618093
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Apraxia, Lethargy, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Myoclonus, Extra... ORPHA:71277
Hereditary Late-Onset Parkinson Disease
Dystonia, Parkinsonism with favorable response to dopaminergic medication, Akinesia, Resting trem... ORPHA:411602
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Increased total iron binding capacity, Dystonia, Truncal ataxia, Rigidity, Hy... ORPHA:309854
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Spinocerebellar Ataxia Type 8
Dystonia, Gait ataxia, Limb ataxia, Ataxia, Bradykinesia, Unsteady gait, Rigidity, Spastic dysart... ORPHA:98760
Gabriele-De Vries Syndrome
Intrauterine growth retardation, Tremor, Waddling gait, Dystonia OMIM:617557
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Hyperactivity, Chorea, Hypertonia, Bradykinesia, Dysme... OMIM:610217
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Glycogen Storage Disease Vi
Hypercholesterolemia, Postnatal growth retardation, Failure to thrive in infancy, Hypertriglyceri... OMIM:232700
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Pa... OMIM:604326
Mitochondrial Myopathy With Lactic Acidosis
Dystonia, Increased serum pyruvate, Growth delay, Toe walking, Hemiparesis, Postnatal growth reta... OMIM:251950
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Dystonia, Hypogonadotropic hypogonadism, Abnormality of extrapyramida... ORPHA:289494
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Mildly elevat... ORPHA:401768
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Increased body weight, Pancrea... ORPHA:276608
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Tremor, Ataxia, Spasticity OMIM:278780
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Ataxia, Decreased serum testosterone concentration, Failure to thrive, Short st... OMIM:201100
Spinocerebellar Ataxia, Autosomal Recessive 17
Unsteady gait, Tremor, Truncal ataxia, Dysmetria OMIM:616127
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Gait ataxia, Cogwheel rigidity, Lethargy, Goiter, Abnormality of extrapyramidal motor fun... ORPHA:254892
Dopa-Responsive Dystonia
Inability to walk, Tremor, Dystonia, Lethargy, Abnormality of extrapyramidal motor function, Diff... ORPHA:255
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Broad-based gait, Resting tremor, Lower limb spasticity, Parkinsonism, Short stature, Hyp... ORPHA:3077
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Hyperinsulinemia, Poor motor coordination, Abnormal pyramidal sign, Tetrapar... ORPHA:363400
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Intentio... ORPHA:397946
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Myoclonus, Writer's cramp OMIM:608105
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Urocanic Aciduria
Abnormal circulating histidine concentration, Gait ataxia, Truncal ataxia, Ataxia, Action tremor,... ORPHA:210128
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ability to walk, Rigidity, Dystonia OMIM:615010
Cystathioninuria
Tremor, Cystathioninemia, Cystathioninuria ORPHA:212
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Choreoathetosis, Tremor, Motor tics, Dystonia, Abnormality of extrapyramidal moto... OMIM:234200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Hypergonadotropic h... OMIM:157640
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Dystonia, Growth delay, Gai... ORPHA:3095
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia, Short stature ORPHA:1368
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Tremor, Ataxia, Spasticity OMIM:300983
Galactosemia
Postural tremor, Dystonia, Lethargy, Abnormality of extrapyramidal motor function, Decreased seru... ORPHA:352
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Dystonia, Lethargy, Rigidity, Hyperphenylalaninemia, Hyperkinetic movements, Limb hyperto... OMIM:233910
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Rigidity ORPHA:98763
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Babinski sign, Dysmetria OMIM:610245
Urocanase Deficiency
Tremor, Ataxia, Short stature OMIM:276880
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Babinski sign, Clonus OMIM:600363
Fragile X-Associated Tremor/Ataxia Syndrome
Gait ataxia, Hypothyroidism, Gait disturbance, Ataxia, Bradykinesia, Parkinsonism, Dysmetria, Int... ORPHA:93256
Leukodystrophy, Hypomyelinating, 6
Tremor, Dystonia, Rigidity, Ataxia, Short stature, Choreoathetosis, Spasticity OMIM:612438
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Myoclonus, Dysmetria OMIM:619028
Aceruloplasminemia
Increased circulating ferritin concentration, Tremor, Gait ataxia, Dystonia, Decreased circulatin... ORPHA:48818
Young-Onset Parkinson Disease
Dystonia, Tremor, Bradykinesia, Rigidity, Gait imbalance, Spasticity ORPHA:2828
Paragangliomas 1
Extraadrenal pheochromocytoma, Vagal paraganglioma, Adrenal pheochromocytoma, Vocal cord paralysi... OMIM:168000
Ataxia-Telangiectasia
Tremor, Gait disturbance, Aplasia/Hypoplasia of the thymus, Ataxia, Delayed puberty, Failure to t... ORPHA:100
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Difficulty walking, Babinski sign, Failure to thrive, Broad-based gait ORPHA:477673
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Tremor, Difficulty walking, Oculogyric crisis, Delayed menarche ORPHA:330050
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Supranuclear Palsy, Progressive, 1
Tremor, Eyelid apraxia, Axial dystonia, Akinesia, Bradykinesia, Parkinsonism, Falls, Limb dystoni... OMIM:601104
Paragangliomas 3
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Vocal cord paralysis, Elevated circulati... OMIM:605373
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Chorea, Poor fine motor coordination, Ataxia, Unsteady gait, Myoclo... ORPHA:79263
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Waddling gait, Myocl... ORPHA:2590
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Spastic paraparesis, Difficulty walking, Gait disturbance ORPHA:101077
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysm... OMIM:614831
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Tremor ORPHA:79234
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:33445
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Fasciculations, Tremor, Testicular atrophy OMIM:313200
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Tongue fasciculations, Myoclonus, Fasciculations, Frequent falls OMIM:159950
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Babinski sign, Steppage gait, Spasticity OMIM:609260
Kufor-Rakeb Syndrome
Eyelid apraxia, Lethargy, Difficulty walking, Hypertonia, Abnormal pyramidal sign, Blepharospasm,... ORPHA:306674
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia ORPHA:101075
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Dystonia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus ORPHA:139485
Glut1 Deficiency Syndrome 2
Tremor, Choreoathetosis, Ataxia, Dystonia OMIM:612126
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Short stature, Postnatal growth retardation, Decreased response to growth ... OMIM:615925
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Tremor, Dystonia, Hypertonia, Abnormal pyramidal sign, Gait disturbance, Atax... ORPHA:96
Supranuclear Palsy, Progressive, 2
Postural tremor, Eyelid apraxia, Axial dystonia, Akinesia, Bradykinesia, Parkinsonism, Falls, Rig... OMIM:609454
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Choreoacanthocytosis
Hypertonia, Head titubation, Weight loss, Progressive inability to walk, Falls, Hyperactivity, El... ORPHA:2388
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Thyroiditis, Postnatal growth retardation, Delayed ... OMIM:618985
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Postnatal growt... ORPHA:556037
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Stereotypy, ... ORPHA:457240
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Tremor, Gait ataxia, Truncal ataxia, Dystonia, Limb ataxia, Oculomotor apra... OMIM:208920
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Growth delay, Gait disturbance, Short stature... OMIM:616586
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Dysmetria, Short stature OMIM:610185
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Decreased circulating follicle stimulating hormone concentration, Decreased circulating... ORPHA:453533
Multiple System Atrophy 1, Susceptibility To
Tremor, Ataxia, Bradykinesia, Parkinsonism, Babinski sign, Rigidity OMIM:146500
Pelizaeus-Merzbacher Disease
Tremor, Dystonia, Progressive spastic quadriplegia, Abnormal pyramidal sign, Head titubation, Ata... OMIM:312080
Peroxisome Biogenesis Disorder 5B
Tremor, Elevated levels of phytanic acid, Oculomotor apraxia, Ataxia, Unsteady gait, Dysmetria OMIM:614867
Xeroderma Pigmentosum, Complementation Group F
Decreased body weight, Tremor, Ataxia, Short stature OMIM:278760
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Ataxia, Limb hypertonia, Unsteady gait, ... ORPHA:442835
Hyperlysinemia
Tremor, Hypoornithinemia, Clumsiness, Hyperactivity, Poor motor coordination, Spastic tetraparesi... ORPHA:2203
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis, Shuffling gait OMIM:300055
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Frequent falls, Spasticity OMIM:616719
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Postnatal growt... ORPHA:556030
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Apraxia, Gait ataxia, Dysmetria, Spasticity OMIM:617810
Insulinoma
Tremor, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neoplasm of the adrenal gland,... ORPHA:97279
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia ORPHA:101078
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Gait ataxia, Dystonia, Dysmetria, Failure to thrive, Choreoathetosis, ... OMIM:617988
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of coordination, Hypertonia, Spastic tetrapares... ORPHA:352649
Pyruvate Dehydrogenase Deficiency
Tremor, Dystonia, Lethargy, Growth delay, Abnormal pyramidal sign, Gait disturbance, Ataxia, Intr... ORPHA:765
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Postural tremor, Dystonia, Head tremor, Abnormal pyramidal sign, Oculomotor... ORPHA:64753
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Difficulty walking, Paraparesis, Gait disturbance, Toe walki... OMIM:302800
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Gait disturbance, Hypertonia, Type I diabetes mellitus, Short stature ORPHA:1192
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... ORPHA:98773
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Short stature, Dysmetri... ORPHA:1170
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus ORPHA:324588
Perry Syndrome
Tremor, Parkinsonism, Weight loss, Abnormality of extrapyramidal motor function ORPHA:178509
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Oromandibular dystonia, Torticollis, Upper limb postural tremor, Myoclonus, Limb d... ORPHA:420485
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:157946
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Classic Phenylketonuria
Hemiplegia, Tremor, Hyperphenylalaninemia, Hypertonia, Growth delay, Paraplegia, Attention defici... ORPHA:79254
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Hyperinsulinism Due To Hnf4A Deficiency
Tremor, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Abno... ORPHA:263455
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Dystonia, Tremor, Spastic diplegia, Postnatal growth retardation, Obesity ORPHA:480907
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Difficulty walking, Limb ataxia, G... OMIM:617675
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Stereotypy, Hyperactivity, Spasticity OMIM:618718
Intellectual Developmental Disorder, X-Linked 12
Tremor, Gait disturbance, Hyperkinetic movements, Truncal obesity, Small for gestational age, Sho... OMIM:300957
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady gait, Babinski sign OMIM:616795
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Clumsiness, Trunc... ORPHA:228360
Riboflavin Transporter Deficiency
Tremor, Ataxia, Myoclonus, Cachexia, Diabetes insipidus, Hypogonadism ORPHA:97229
3-Methylglutaconic Aciduria, Type Viii
Growth delay, Hypertonia, Tremor, Dystonia OMIM:617248
Parkinsonism-Dystonia, Infantile, 2
Tremor, Gait ataxia, Incoordination, Dystonia, Oculogyric crisis, Parkinsonism, Shuffling gait OMIM:618049
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Difficulty walking, Slurred speech, Gait dis... ORPHA:206443
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Clumsiness, Truncal ataxia, Spastic ataxia, Difficulty walking, Hypertonia, Poor fine mot... ORPHA:137898
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Cogwheel rigidity, Gait ataxia, Dystonia, Lethargy, Chorea, Hypertonia, Abnorm... OMIM:607483
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Tremor, Gait disturbance, Ataxia ORPHA:99014
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Decreased body mass index, Tremor, Lethargy, Acute hyperam... ORPHA:247585
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Apraxia, Dystonia, Attention deficit hyperactivity disorder, Abnormal ... ORPHA:52368
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Ataxia, Parkins... OMIM:614298
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
Neuronal Intranuclear Inclusion Disease
Gait disturbance, Tremor, Rigidity, Ataxia OMIM:603472
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Chaddock reflex, Postnatal growth retardation, Hypocholesterolemia, Decreas... ORPHA:96180
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Delayed puberty, Short stature, Abdominal obesity, Hyperactivity, Hypogonadism OMIM:300354
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Ddost-Cdg
Oromotor apraxia, Tremor, Failure to thrive, Primary hypothyroidism, Short stature ORPHA:300536
Proximal 16P11.2 Microduplication Syndrome
Decreased body mass index, Tremor, Failure to thrive, Short stature, Attention deficit hyperactiv... ORPHA:370079
Argininemia
Frequent falls, Spastic paraparesis, Progressive spastic quadriplegia, Postnatal growth retardati... OMIM:207800
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Blepharospasm, Torsion dystonia, Torticollis OMIM:224500
Combined Oxidative Phosphorylation Deficiency 18
Intrauterine growth retardation, Tremor, Dysmetria OMIM:615578
Adult-Onset Distal Myopathy Due To Vcp Mutation
Tremor, Difficulty walking, Mildly elevated creatine kinase, Parkinsonism, Fasciculations, Freque... ORPHA:329478
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Type II diabetes mellitus ORPHA:79095
Pediatric-Onset Graves Disease
Tremor, Puberty and gonadal disorders, Increased circulating T4 level, Graves disease, Goiter, Hy... ORPHA:525731
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Dysmetria, Intention tremor, Babinski sign, S... OMIM:616505
East Syndrome
Inability to walk, Difficulty walking, Ataxia, Increased circulating renin level, Hyperaldosteron... ORPHA:199343
Pyruvate Carboxylase Deficiency
Tremor, Dystonia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L... ORPHA:3008
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Oculomotor apraxia, Dysmetria, Spasticity ORPHA:529665
Dystonia 1, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Hypertonia, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Non-Functioning Paraganglioma
Tremor, Weight loss, Vocal cord paralysis, Hypercalcemia, Paraganglioma, Paraganglioma of head an... ORPHA:94080
Mohr-Tranebjaerg Syndrome
Dystonia, Tremor, Spasticity OMIM:304700
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Gait ataxia, Akinesia, Abnormal vestibulo-ocular reflex, Resting tremor, Atax... ORPHA:247234
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Inability to walk, Tremor, Dystonia, Speech apraxia, Difficulty walking, Chorea, Hyperkinetic mov... OMIM:615356
Purine Nucleoside Phosphorylase Deficiency
Tremor, Increased circulating guanosine concentration, Hypouricemia, Tetraparesis, Spastic dipleg... OMIM:613179
Methylmalonic Aciduria, Cbla Type
Tremor, Lethargy, Hyperglycinemia, Methylmalonic acidemia, Failure to thrive, Hyperammonemia OMIM:251100
Tay-Sachs Disease
Inability to walk, Tremor, Incoordination, Clumsiness, Dystonia, Gait disturbance, Poor fine moto... ORPHA:845
Sialidosis Type 1
Tremor, Slurred speech, Gait disturbance, Aminoaciduria, Ataxia, Myoclonus, Short stature ORPHA:812
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Gait ataxia, Dystonia, Head tremor, Chorea, Progressive gait ataxia, Abnormal pyramidal s... OMIM:606002
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Dysdiadochokinesis, Tremor, Difficulty walking, Mildly elevated creatine kinase, Growth delay, Pr... ORPHA:502423
Developmental And Epileptic Encephalopathy 42
Tremor, Hypertonia, Ataxia, Athetosis OMIM:617106
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Tremor, Ataxia, Hyperalaninemia, Small for gestational age, Failure to thrive, Intention tremor, ... OMIM:614052
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Gait disturbance, Toe walking, Babinski sign ORPHA:83629
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Ataxia, Tongue thrusting, Recurrent hand flapping, Myoclonus, Hyperactivity, Gait imbalan... ORPHA:98794
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Abnormal neutrophil count, Splenomegaly, Myeloproliferative disor... ORPHA:3226
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Tremor, Lethargy, Abnormality of extrapyramidal motor function, Cystathioninuria, Hypomethioninem... OMIM:277400
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia OMIM:618060
Wolfram Syndrome 1
Tremor, Hypothyroidism, Growth delay, Ataxia, Testicular atrophy, Diabetes insipidus, Diabetes me... OMIM:222300
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Abnormal pyramidal sign, Resting tremor, Parkinsonism, Limb dystonia, Rigidity, Spasticity OMIM:616840
Tetanus
Tremor, Hypertonia, Spasticity of pharyngeal muscles, Opisthotonus, Elevated circulating creatine... ORPHA:3299
Ataxia-Telangiectasia
Tremor, Dystonia, Elevated alpha-fetoprotein, Ataxia, Female hypogonadism, Hypoplasia of the thym... OMIM:208900
Thyrotoxic Periodic Paralysis
Tetraplegia, Tremor, Thyrotoxicosis with toxic multinodular goiter, Periodic hypokalemic paresis,... ORPHA:79102
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Tremor, Gait ataxia, Hypertonia, Abnormal pyramidal sign, Tetraparesis, Head ... ORPHA:99027
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Myoclonus, Ataxia OMIM:607876
Intrahepatic Cholestasis Of Pregnancy
Tremor, Hypothyroidism, Abnormal pineal melatonin secretion, Hyperbilirubinemia, Small for gestat... ORPHA:69665
Kallmann Syndrome
Tremor, Gait disturbance, Ataxia, Hypothalamic gonadotropin-releasing hormone deficiency, Delayed... ORPHA:478
Cockayne Syndrome Type 1
Tremor, Male hypogonadism, Increased blood urea nitrogen, Difficulty walking, Gait disturbance, A... ORPHA:90321
Typhoid
Hypertonia, Lethargy, Tremor, Ataxia ORPHA:99745
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
X-Linked Intellectual Disability, Cabezas Type
Tremor, Cachexia, Short stature, Hyperactivity, Hypogonadism, Broad-based gait, Obesity ORPHA:85293
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hyperbilirubinemia, Ataxia ORPHA:713
Wilson Disease
Tremor, Dystonia, Poor motor coordination, Aminoaciduria, Hypoparathyroidism, High nonceruloplasm... OMIM:277900
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mildly elevated creatine kinase, Tremor ORPHA:397744
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss, Vocal cord paralysi... ORPHA:276621
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Gait ataxia, Hypertonia, Dysmetria, Truncal titubation OMIM:618056
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration... ORPHA:91347
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Tremor, Overweight, Upper limb spasticity, Decreased body weight, Ataxia, Obes... OMIM:619229
12Q14 Microdeletion Syndrome
Tremor, Failure to thrive, Short stature, Intrauterine growth retardation, Diabetes mellitus ORPHA:94063
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Abnormal pyramidal si... OMIM:612199
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss, Hypercalcemia, Voca... ORPHA:29072
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Hemiparesis, Ataxia, Paraplegia, Spasticity OMIM:105210
Angelman Syndrome
Inability to walk, Tremor, Delayed menarche, Ataxia, Precocious puberty in females, Tongue thrust... ORPHA:72
Japanese Encephalitis
Pill-rolling tremor, Tremor, Cogwheel rigidity, Dystonia, Abnormality of extrapyramidal motor fun... ORPHA:79139
Wars2-Related Combined Oxidative Phosphorylation Defect
Tremor, Difficulty walking, Ataxia, Limb hypertonia, Spastic tetraplegia, Dysmetria, Limb dystoni... ORPHA:572798
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Brain abscess, Liver abscess, Anemia ORPHA:54251
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Gait ataxia, Hypercalcemia, Stereotypy, Failure to thrive, Attention deficit hyperactivit... ORPHA:476126
Combined Oxidative Phosphorylation Deficiency 3
Tremor, Dystonia, Ataxia, Intrauterine growth retardation, Elevated circulating creatine kinase c... OMIM:610505
Alexander Disease
Tremor, Chorea, Gait disturbance, Abnormal pyramidal sign, Hypothyroidism, Ataxia, Failure to thr... ORPHA:58
Glutaryl-Coa Dehydrogenase Deficiency
Tremor, Dystonia, Poor motor coordination, Chorea, Ataxia, Limb dystonia, Athetosis, Rigidity ORPHA:25
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Tremor, Increased blood urea nitrogen OMIM:274150
Alternating Hemiplegia Of Childhood
Tremor, Choreoathetosis, Episodic hemiplegia, Dystonia, Chorea, Paroxysmal dyskinesia, Abnormal p... ORPHA:2131
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Mercury Poisoning
Tremor, Hypokalemia, Dystonia ORPHA:330021
Relapsing Fever
Leukocytosis, Thrombocytopenia, Anemia, Leukopenia, Neutrophilia ORPHA:91547
Neuroleptic Malignant Syndrome
Hypocalcemia, Tremor, Extrapyramidal muscular rigidity, Hypernatremia, Chorea, Hyponatremia, Elev... ORPHA:94093
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Abnormal pyramidal sign, Lower limb hypertonia, Spastic gait, Falls, Babinski sign, Spast... ORPHA:447753
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor ORPHA:99965
Adult-Onset Still Disease
Neutrophilia, Leukocytosis, Splenomegaly ORPHA:829
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Oculopharyngodistal Myopathy 1
Tremor, Difficulty walking, Ataxia, Weight loss, Elevated circulating creatine kinase concentration OMIM:164310
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased proportion of CD4-positive T cells, Leukocytosis OMIM:617099
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paraganglioma, Elevated circulating catecho... ORPHA:892
Aicardi-Goutières Syndrome
Tremor, Dystonia, Extrapyramidal muscular rigidity, Spastic paraparesis, Abnormality of extrapyra... ORPHA:51
Metachromatic Leukodystrophy
Tremor, Incoordination, Dystonia, Gait disturbance, Toe walking, Ataxia, Decerebrate rigidity, Pr... ORPHA:512
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Hypertonia, Rigidity, Spasticity OMIM:176500
Niemann-Pick Disease Type C
Tremor, Dystonia, Clumsiness, Axial dystonia, Speech apraxia, Progressive gait ataxia, Chorea, In... ORPHA:646
Early Infantile Epileptic Encephalopathy
Episodic ataxia, Tremor, Dystonia, Myoclonus, Failure to thrive, Hyperactivity, Choreoathetosis, ... ORPHA:1934
Triosephosphate Isomerase Deficiency
Dystonia, Tremor, Unsteady gait, Spasticity OMIM:615512
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Leukopenia, Leukocytosis ORPHA:36238
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
African Trypanosomiasis
Abnormality of renin-angiotensin system, Abnormal growth hormone level, Tremor, Abnormality of th... ORPHA:3385
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Anemia, Sterile abscess, Neutro... ORPHA:3243
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly OMIM:612852
Wiedemann-Rautenstrauch Syndrome
Hypertonia, Type II diabetes mellitus, Spasticity, Increased serum estradiol, Ataxia, Limb hypert... ORPHA:3455
Gabriele-De Vries Syndrome
Tremor, Dystonia, Hypothyroidism, Small for gestational age, Waddling gait, Intrauterine growth r... ORPHA:506358
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Hepatosplenomegaly, Leukocytosis OMIM:260920
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia, Anemia, Splenomegaly, Neutrophilia, Hepatosplenom... ORPHA:3260
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Leukocytosis, Anemia, Microcytic anemia ORPHA:99843
Familial Mediterranean Fever
Neutrophilia, Splenomegaly, Leukocytosis OMIM:249100

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 Spr

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 Spr.

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

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Sprtm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sprem1(IMPC)H Inter-exon deletion Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter