banner
Genes Phenotypes Help, News, Blog

Gene: Spr MGI:103078

Log in to follow

Gene Summary

Name:
sepiapterin reductase
Synonyms:
N/A

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
increased grip strength Sprem1(IMPC)H HET   Early adult 3.82×10-05
preweaning lethality, complete penetrance Sprem1(IMPC)H HOM   Early adult 0.00
increased neutrophil cell number Sprem1(IMPC)H HET Early adult 2.22×10-07

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.

Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

4 Images

View images
Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

View images

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
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Growth delay, Abnormal circulating biopterin concentration, Tremor... OMIM:612716
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykinesia, Gro... ORPHA:70594

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Maturity-onset diabetes of the young, Cerebral palsy, Hypomagnesemia, Abnormal... ORPHA:1578
Acid-Labile Subunit Deficiency
Reduced insulin like growth factor binding protein acid labile subunit concentration, Decreased s... OMIM:615961
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Growth delay, Abnormal circulating biopterin concentration, Tremor... OMIM:612716
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... OMIM:160120
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, Parkinsonism, ... ORPHA:521406
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Bradykinesia, Laryngeal dystonia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait... ORPHA:210571
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d... OMIM:213600
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Autosomal Dominant Spastic Paraplegia Type 3
Growth delay, Tip-toe gait, Ankle clonus, Rigidity, Babinski sign, Lower limb spasticity, Gait di... ORPHA:100984
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Spastic gait, Bradykinesia, Short st... OMIM:619052
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... ORPHA:314632
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso... OMIM:615528
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Impaired tandem... OMIM:300423
Dystonia 12
Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait OMIM:128235
Infantile Dystonia-Parkinsonism
Oculogyric crisis, Cerebral palsy, Chorea, Dystonia, Parkinsonism, Abnormal pyramidal sign, Limb ... ORPHA:238455
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:620482
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Generalized dystonia, Postural tremor, Myoclonus, Gait ataxia, Limb dystonia, ... ORPHA:101150
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hyperphenyl... OMIM:261640
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Limb ataxia, Dystonia, Babinski sign, Lower limb spasticity, Gait disturbance... OMIM:618418
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
Huntington Disease-Like 2
Chorea, Action tremor, Rigidity, Dystonia, Weight loss, Bradykinesia OMIM:606438
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra... ORPHA:71517
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Hyposerinemia, Hypertonia OMIM:614023
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Limb ataxia, Limb dystonia, Rigidity, Babinski sign, Parkinsonism, Hyperton... OMIM:618824
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Rigidity, Dystonia, Ataxia, Short stature, Bradykinesia OMIM:617836
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:613643
Juvenile Huntington Disease
Broad-based gait, Chorea, Myoclonus, Gait ataxia, Rigidity, Dystonia, Weight loss, Ataxia, Bradyk... ORPHA:248111
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity ORPHA:228169
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Dystonia, Ataxia, Truncal ataxia, Bradykinesia, Intention tremor OMIM:601238
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li... OMIM:612067
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykinesia, Gro... ORPHA:70594
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Falls, Resting tremor, Gait ataxia, Babinski sign, Parkinsonism, Abnormal pyr... OMIM:617225
Huntington Disease
Involuntary movements, Decreased body mass index, Abnormal circulating cholesterol concentration,... ORPHA:399
Spinocerebellar Ataxia 17
Broad-based gait, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Dystonia, Par... OMIM:607136
Parkinsonism With Polyneuropathy
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:619279
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... ORPHA:391411
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Oculogyric crisis, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Bradyki... OMIM:617384
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:240085
Hypermanganesemia With Dystonia 2
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c... OMIM:617013
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Chorea, Bradykinesia, Ataxia OMIM:618683
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Tip-toe gait, Rigidity, Dystonia, Gait disturbance, Oromandibular dystonia, ... OMIM:615643
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia ORPHA:306669
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyramidal sign, Ataxia, Bradykinesia, Slurred... OMIM:618317
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Decreased circulating ferritin concentrati... OMIM:606159
Caribbean Parkinsonism
Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Parkinsonism, Apraxia, Wea... ORPHA:97355
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand... ORPHA:53351
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Increased total iron binding capacity, Tremor, Rigidity, Abnormality of extr... OMIM:613280
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata... OMIM:600116
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creatine kinase concentrati... ORPHA:309169
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park... OMIM:619911
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Freezin... ORPHA:99750
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, Torticollis, Bradykinesia OMIM:619862
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia, Hyperglycinemia OMIM:619063
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Male hypogonadism, Spastic tetraplegia, Shuffling gait, Resting tremor, Obesi... OMIM:300055
Huntington Disease
Chorea, Gait ataxia, Bradykinesia, Rigidity OMIM:143100
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Shuffling gait, Falls, Parkinsonism, Bradykinesia ORPHA:412066
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Shuffling gait, Rigidity, Apraxia, Parkinsonism, Gait disturbance, Bradykinesia OMIM:221820
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Falls, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abno... ORPHA:13
Saccharopinuria
Hyperlysinuria, Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Elevated plasma citrulline,... ORPHA:3124
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Elevated circulating creatine kinase concentration, Tremor, Fasciculations OMIM:615048
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, P... OMIM:606693
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Leber Optic Atrophy And Dystonia
Spasticity, Bradykinesia, Upper motor neuron dysfunction, Dystonia, Athetosis OMIM:500001
Lopes-Maciel-Rodan Syndrome
Spasticity, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Hypertonia, Unsteady gait, B... OMIM:617435
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Spastic Paraparesis And Deafness
Hypogonadism, Spastic paraparesis, Short stature, Tremor OMIM:312910
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... OMIM:615157
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Rett Syndrome
Failure to thrive, Increased serum leptin, Difficulty walking, Inability to walk, Hyperammonemia,... ORPHA:778
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Autosomal Recessive Progressive External Ophthalmoplegia
Shuffling gait, Cogwheel rigidity, Action tremor, Elevated circulating creatine kinase concentrat... ORPHA:254886
Huntington Disease-Like 1
Involuntary movements, Incoordination, Chorea, Gait ataxia, Simultanapraxia, Dysmetria, Clumsines... ORPHA:157941
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ... OMIM:612953
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Autosomal Dominant Dopa-Responsive Dystonia
Generalized dystonia, Postural tremor, Gait ataxia, Limb dystonia, Rigidity, Abnormality of extra... ORPHA:98808
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmetria, Intention tremor, Impaire... OMIM:300623
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Rigidity, Dystonia, Babinski sign, ... ORPHA:289560
Spinocerebellar Ataxia 2
Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysmetria, Ri... OMIM:183090
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia,... OMIM:618877
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi... OMIM:619725
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Hyperphenylalaninemia, Bh4-Deficient, D
Transient hyperphenylalaninemia, Hypertonia, Tremor, Hyperphenylalaninemia OMIM:264070
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L... ORPHA:157846
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:102
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... ORPHA:240071
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... OMIM:616053
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigi... ORPHA:227510
Adult-Onset Nemaline Myopathy
Difficulty walking, Bradykinesia, Mildly elevated creatine kinase ORPHA:171442
Gerstmann-Straussler Disease
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Weight ... OMIM:137440
Childhood-Onset Nemaline Myopathy
Difficulty walking, Slender build, Clumsiness, Bradykinesia, Mildly elevated creatine kinase, Wad... ORPHA:171439
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Perry Syndrome
Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Weight loss, Br... OMIM:168605
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Tremor, Ataxia OMIM:615945
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:98933
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Fasciculations, Chorea, Postural tremor, Gait imbalance, Dysmetria... ORPHA:98755
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Arm dystonia, Episodic ataxia, Incoordination, Gait ataxia, Dysmetria, Hemiparesis, Dystonia, Ata... OMIM:601338
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro... ORPHA:464440
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Tremor, Ataxia, Bradykinesia, Poor fine motor coordination ORPHA:36387
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Gait ataxia... ORPHA:282166
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia OMIM:300894
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Inability to walk, Myoclonus, Dystonia, Clumsiness, Paraparesis, Lo... OMIM:617854
Waisman Syndrome
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... OMIM:311510
Spinocerebellar Ataxia 10
Incoordination, Limb fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyr... OMIM:603516
Machado-Joseph Disease
Spasticity, Facial-lingual fasciculations, Fasciculations, Limb ataxia, Rigidity, Abnormality of ... OMIM:109150
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... OMIM:617284
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Mildly elevated creatine kinase, Limb ataxia, Gait ataxia, Rigidity, Dystonia, Babinski sign, Par... OMIM:258450
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Lower limb ... OMIM:612736
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Hypogonadism, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unste... OMIM:615768
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait ataxia, Dy... ORPHA:225147
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Growth delay, Failure to thrive, Hypocystinemia, Intrauterine growth retarda... OMIM:617744
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyramidal sign, Ataxi... OMIM:615924
Dravet Syndrome
Incoordination, Cogwheel rigidity, Action tremor, Myoclonus, Rigidity, Progressive gait ataxia, P... ORPHA:33069
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Parkinsonism, Ab... ORPHA:216873
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Manganese Poisoning
Postural tremor, Akinesia, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Dysto... ORPHA:306682
Postencephalitic Parkinsonism
Involuntary movements, Oculogyric crisis, Resting tremor, Akinesia, Cogwheel rigidity, Rigidity, ... ORPHA:97349
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Abnormal circulating creatine kinase co... ORPHA:199351
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intrauterine growth retardation, Obesity, Limb dystonia, Tremor, Ataxia OMIM:620270
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Elevated circulating creatine k... ORPHA:276435
Spinocerebellar Ataxia Type 13
Difficulty walking, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Torticollis, Short stature, ... ORPHA:98768
Primary Progressive Freezing Gait
Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, Rigidity, Babinski sign, Clo... ORPHA:75567
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Hypothyroidism, Dystonia, Frequent falls OMIM:619647
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Tremor, Hypokalemia, Increased circulating T4 concentration, Weight loss, Increased circu... OMIM:613239
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia, Growth delay, Small for gestational age OMIM:278780
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Loss o... OMIM:614018
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Tremor, Rigidity, Dystonia, ... OMIM:615530
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower... ORPHA:251282
Autosomal Recessive Spastic Paraplegia Type 77
Progressive spastic paraplegia, Myoclonus, Paroxysmal dystonia, Loss of ambulation, Babinski sign... ORPHA:466722
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hyperphenylalaninemia, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dystonia, Parkinsonism, ... OMIM:168601
Spinocerebellar Ataxia Type 37
Falls, Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Gait disturbance, Truncal ataxia, Dy... ORPHA:363710
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Parkinsonian-Pyramidal Syndrome
Spasticity, Shuffling gait, Myoclonus, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abnormal ... ORPHA:171695
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Elevated circulating phytanic acid concentration, Increased phytanic acid:pristanic a... OMIM:614307
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Short stature, Truncal ataxia OMIM:276880
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia OMIM:168600
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Failure to thrive, Tremor OMIM:619651
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia, Ataxia, Dystonia OMIM:618093
Phenylketonuria
Tremor, Phenylalaninuria, Lower limb spasticity, Hyperphenylalaninemia, Ataxia ORPHA:716
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Neurodegeneration With Brain Iron Accumulation 7
Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Increased circulating very ... OMIM:617916
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Tremor, Dysmetria, Elevated circulating creatine kinase concentration, Steppage gait... OMIM:618387
Hsd10 Disease
Spastic paraparesis, Abnormal urinary acylglycine profile, Postnatal growth retardation, Myoclonu... ORPHA:391417
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Spinocerebellar Ataxia Type 8
Spasticity, Limb ataxia, Gait ataxia, Rigidity, Dystonia, Unsteady gait, Ataxia, Bradykinesia, Sp... ORPHA:98760
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Resting tremor, Akinesia, Rigidity, Dystonia, Parkinsonism, Parkinsonism with fav... ORPHA:411602
Glycogen Storage Disease Vi
Failure to thrive in infancy, Postnatal growth retardation, Hyperlipidemia, Hypercholesterolemia,... OMIM:232700
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Spastic paraparesis, Increased total iron binding ... ORPHA:309854
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Proximal Myopathy With Extrapyramidal Signs
Involuntary movements, Resting tremor, Progressive extrapyramidal muscular rigidity, Difficulty w... ORPHA:401768
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia OMIM:615362
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Slowed slurred speech OMIM:619827
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Failure to thrive, Goiter, Frequent falls, Cogwheel rigidity, Gait ataxia, Tremor... ORPHA:254892
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Autosomal Spastic Paraplegia Type 58
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat... ORPHA:397946
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Gait di... OMIM:617145
Progressive Supranuclear Palsy
Blepharospasm, Falls, Tremor, Rigidity, Dystonia, Unsteady gait, Bradykinesia ORPHA:683
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Short stature, U... OMIM:213200
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Abnormal circulating histidine concentratio... ORPHA:210128
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Hand tremor, Gait ataxia, Rigidity, Parkinsonism, Parkinsonism with favorable res... OMIM:157640
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Tremor, Pancreatic islet-cell hyperplasia, Increased body weight, Lethargy, Hyp... ORPHA:276608
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Difficulty walking, Delayed menarche, Inability to walk, Tremor, Dystonia ORPHA:330050
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Chorea, Gait ataxia, Intention tremor, Dysmetria, Dystonia, Babinski sign, Hypertonia... OMIM:610217
4H Leukodystrophy
Decreased response to growth hormone stimulation test, Abnormality of thyroid physiology, Dysmetr... ORPHA:289494
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Short stature, Trunca... OMIM:610185
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor OMIM:613608
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Cystathioninuria
Cystathioninuria, Cystathioninemia, Tremor ORPHA:212
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinas... OMIM:159950
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia ORPHA:98763
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Episodic ataxia, Myoclonus, Tremor, Lethargy, Hyperalaninemia, Dystoni... OMIM:312170
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Cataract-Ataxia-Deafness Syndrome
Short stature, Hypertonia, Tremor, Ataxia ORPHA:1368
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Clumsiness, Eyelid myoc... ORPHA:2590
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Elevated circulating creatine kinase concentration, Ataxia, Unsteady gait, Inc... OMIM:619405
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Bradykinesia, Spastic tetraparesis, Babinski sign, Dystonia, Elevated circulat... OMIM:614924
Fragile X-Associated Tremor/Ataxia Syndrome
Gait ataxia, Dysmetria, Rigidity, Parkinsonism, Hypothyroidism, Gait disturbance, Ataxia, Bradyki... ORPHA:93256
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Failure to thrive, Difficulty walking, Tremor, Babinski sign ORPHA:477673
Young-Onset Parkinson Disease
Spasticity, Gait imbalance, Tremor, Rigidity, Dystonia, Bradykinesia ORPHA:2828
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... OMIM:618049
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Tetraparesis, Hyperinsulinemia, Myoclonus, Gait ataxia, Trem... ORPHA:363400
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Postnatal growth retardation,... ORPHA:453533
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia... OMIM:619738
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Tremor ORPHA:79234
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait OMIM:600363
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati... ORPHA:240094
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Postnatal growth retardation, Hypogonadotropic ... OMIM:616113
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Short stature... OMIM:614831
Leukodystrophy, Hypomyelinating, 11
Spasticity, Failure to thrive, Myoclonus, Tremor, Ataxia OMIM:616494
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Resting tremor, Obesity, Tremor, Parkinsonism, Lower limb spast... ORPHA:3077
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Hypogonadotropic hypogonadism... OMIM:607694
Pheochromocytoma/Paraganglioma Syndrome 3
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph... OMIM:605373
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Chorea, Limb ataxia, Gait ataxia, Tremor, Elevated circulating creatine kinase c... OMIM:208920
Spinocerebellar Ataxia With Epilepsy
Gait ataxia, Myoclonus, Dysmetria, Tremor, Hyperalaninemia, Dystonia, Dysdiadochokinesis, Progres... ORPHA:254881
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom... OMIM:168000
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Limb fasciculations, Tremor, Elevated circulating creatine kinase concentration ORPHA:90117
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign OMIM:610245
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, Ataxia OMIM:619028
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Gait disturbance OMIM:618090
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Lethargy, Limb hypertonia, Hyperphenylalaninemia, Dysto... OMIM:233910
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Akinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor functi... OMIM:234200
Myopathy With Extrapyramidal Signs
Growth delay, Extremely elevated creatine kinase, Difficulty walking, Chorea, Tremor, Abnormality... OMIM:615673
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia OMIM:618587
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Elevated circulating creatine kinase concentration, Loss ... ORPHA:209335
Ataxia-Telangiectasia
Spasticity, Aplasia/Hypoplasia of the thymus, Failure to thrive, Type II diabetes mellitus, Tremo... ORPHA:100
Aceruloplasminemia
Blepharospasm, Decreased circulating iron concentration, Involuntary movements, Decreased circula... ORPHA:48818
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, Clumsiness, Myoclonic spasms, Ataxia,... ORPHA:79263
Kufor-Rakeb Syndrome
Blepharospasm, Oculogyric crisis, Difficulty walking, Myoclonus, Rigidity, Babinski sign, Parkins... ORPHA:306674
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
Spinocerebellar Ataxia Type 27
Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Truncal ataxia ORPHA:98764
Supranuclear Palsy, Progressive, 2
Falls, Postural tremor, Gait imbalance, Retrocollis, Akinesia, Axial dystonia, Rigidity, Parkinso... OMIM:609454
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Hypogonadism, Decreased serum testosterone concentration, Tremor, Lethargy, De... OMIM:201100
Ataxia With Vitamin E Deficiency
Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,... ORPHA:96
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Elevated circulating creatine kinase concentration, Tremor, Fasciculations OMIM:313200
Aicardi-Goutieres Syndrome 6
Intrauterine growth retardation, Tremor, Rigidity, Loss of ambulation, Dystonia OMIM:615010
Atypical Rett Syndrome
Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Hand apraxia, Inability t... ORPHA:3095
Supranuclear Palsy, Progressive, 1
Falls, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Tremor, Rigidity, Axial dystonia, Pa... OMIM:601104
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Postnatal growth retardation, Decreased serum insulin-like growth factor 1, Delayed puberty, Shor... OMIM:618985
Leukodystrophy, Hypomyelinating, 6
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Short stature, Dystonia, Choreoathetosis OMIM:612438
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Postnatal growth retardation, Hyponatremia, Decreased circulating aldosterone ... ORPHA:556037
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Spasticity, Failure to thrive, Difficulty walking, Abnormality of coordina... ORPHA:442835
Peroxisome Biogenesis Disorder 5B
Elevated circulating phytanic acid concentration, Tremor, Dysmetria, Oculomotor apraxia, Ataxia, ... OMIM:614867
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Failure to thrive, Generalized dystonia, Inability to walk,... OMIM:312080
Glutathionuria
Glutathionuria, Dysdiadochokinesis, Action tremor, Tremor OMIM:231950
Neuroblastoma
Elevated circulating catecholamine level, Increased circulating ferritin concentration, Antalgic ... ORPHA:635
Pyruvate Dehydrogenase Deficiency
Spasticity, Cerebral palsy, Intrauterine growth retardation, Tremor, Lethargy, Abnormal pyramidal... ORPHA:765
Choreoacanthocytosis
Blepharospasm, Poor motor coordination, Involuntary movements, Falls, Resting tremor, Laryngeal d... ORPHA:2388
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Type I diabetes mellitus, Tremor, Gait disturbance, Hypertonia, Short stature ORPHA:1192
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Hypothyroidism, Hyperalaninemia, Increased serum pyruvate, Growth delay OMIM:619147
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Postnatal growth retardation, Hyponatremia, Decreased circulating aldosterone ... ORPHA:556030
Perry Syndrome
Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, ... ORPHA:1170
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Tremor, Hyperkinetic movements, Gait disturbance, Truncal obesity, Increased body mas... OMIM:300957
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Dysmetria, Tremor, Babinski sign, ... OMIM:302800
Behr Syndrome
Dysmetria, Tremor, Babinski sign, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Progre... OMIM:210000
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Myopathy, Mitochondrial, And Ataxia
Increased circulating prolactin concentration, Difficulty walking, Inability to walk, Limb ataxia... OMIM:617675
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Large for gestational age, Hypophosphatemic rickets, Tremor, Pancreatic islet-c... ORPHA:263455
Spinocerebellar Ataxia 42
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady gait OMIM:616795
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Loss of a... OMIM:614298
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Hypogonadotropic hypogonadism, Abno... OMIM:614381
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Difficulty walking, Tremor, Loss of ambulation, Babinski sign, Spastic ataxia, Clumsiness, Hypert... ORPHA:137898
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressiv... ORPHA:98773
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Decreased body weight, Decreased s... OMIM:608747
Congenital Myopathy 9A
Short stature, Akinesia OMIM:618822
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ... OMIM:616586
Hyperlysinemia
Poor motor coordination, Hyperlysinuria, Hypoornithinemia, Failure to thrive, Tip-toe gait, Hyper... ORPHA:2203
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Failure to thrive, Increased circulating prolactin concentration, Tremor, Babi... ORPHA:35708
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Tremor, Hyperkinetic movements, Gait distu... ORPHA:457240
Congenital Myopathy 12
Abnormal circulating creatine kinase concentration, Akinesia OMIM:612540
Ddost-Cdg
Failure to thrive, Tremor, Primary hypothyroidism, Short stature, Oromotor apraxia ORPHA:300536
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... OMIM:226990
Late-Infantile/Juvenile Krabbe Disease
Spastic paraparesis, Difficulty walking, Hemiplegia, Spastic diplegia, Tremor, Loss of ambulation... ORPHA:206443
Citrullinemia Type Ii
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Delayed mena... ORPHA:247585
Adult-Onset Distal Myopathy Due To Vcp Mutation
Fasciculations, Difficulty walking, Tremor, Parkinsonism, Frequent falls, Mildly elevated creatin... ORPHA:329478
Oculopharyngodistal Myopathy 4
Postural tremor, Tremor, Elevated circulating creatine kinase concentration OMIM:619790
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Generalized dystonia, Inability to walk, Tremor, Babinski sign, Hypertonia, Tortic... OMIM:128100
Spinocerebellar Ataxia 21
Akinesia, Limb ataxia, Gait ataxia, Ataxia, Progressive cerebellar ataxia OMIM:607454
Classic Phenylketonuria
Hemiplegia, Paraplegia, Tremor, Hyperphenylalaninemia, Hypertonia, Growth delay ORPHA:79254
Mohr-Tranebjaerg Syndrome
Shuffling gait, Generalized dystonia, Inability to walk, Tremor, Ankle clonus, Babinski sign, Apr... ORPHA:52368
Parkinson-Dementia Syndrome
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity OMIM:260540
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... ORPHA:101
Tay-Sachs Disease
Precocious puberty, Increased serum beta-hexosaminidase, Fasciculations, Incoordination, Inabilit... ORPHA:845
Mitochondrial Complex I Deficiency, Nuclear Type 28
Truncal ataxia, Akinesia, Hyperalaninemia, Choreoathetosis OMIM:618249
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Failure to thrive, Intrauterine growth retardation, Intention tremor, Tremor, Neonatal death, Hyp... OMIM:614052
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Difficulty walking, Speech apraxia, Chorea, Intrauterine growth retardation, Inability to walk, T... OMIM:615356
Ataxia-Telangiectasia
Progressive cerebellar ataxia, Elevated circulating alpha-fetoprotein concentration, Dysdiadochok... OMIM:208900
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased circulating prolactin concentration, Difficulty walking, Mildly elevated creatine kinas... ORPHA:502423
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia OMIM:608768
Congenital Bile Acid Synthesis Defect Type 4
Hypogonadism, Type II diabetes mellitus, Tremor, Elevated circulating creatine kinase concentrati... ORPHA:79095
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Tip-toe gait, Hyperammonemia, Tremor, Hyperglutam... ORPHA:3008
Argininemia
Spastic paraparesis, Postnatal growth retardation, Hyperammonemia, Hyperargininemia, Progressive ... OMIM:207800
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Elevated circulating creatine kinase conce... OMIM:606002
Fetal Akinesia Deformation Sequence
Intrauterine growth retardation, Akinesia ORPHA:994
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Akinesia OMIM:253290
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Hyperbilirubinemia, Tremor, Increased serum bile acid concen... ORPHA:69665
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro... ORPHA:3226
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Failure to thrive, Tetraparesis, Tremor, Ataxia, Increased circulating inosine conc... OMIM:613179
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Hyperglycinemia, Hyperammonemia, Tremor, Lethargy, Methylmalonic acidemia OMIM:251100
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Intrauterine growth retardation, Akinesia OMIM:225790
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Akinesia, Gait ataxia, Ataxia, Dysdiadochokinesis ORPHA:247234
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Graves disease, Periodic hypokalemic paresis, Hypomagnesemia, Obesity, Trem... ORPHA:79102
Wolfram Syndrome 1
Growth delay, Tremor, Hypothyroidism, Ataxia, Testicular atrophy, Diabetes insipidus, Diabetes me... OMIM:222300
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Ataxia OMIM:607876
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Spasticity, Tetraparesis, Gait ataxia, Action tremor, Dysmetria, Trem... ORPHA:99027
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor, Ataxia ORPHA:713
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... OMIM:618056
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia, Tremor, Growth delay OMIM:250800
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Paraplegia, Obesity, Tremor, Hypogonadotr... ORPHA:478
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Homocystinuria, Cystathioninemia, Failure to thrive, Cystathioninuria, Tremor, Abnormality of ext... OMIM:277400
Gaucher Disease, Perinatal Lethal
Intrauterine growth retardation, Akinesia OMIM:608013
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Tremor, Adrenal pheochromocytoma, Weight loss, Vocal cord paralysi... ORPHA:29072
Relapsing Fever
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia ORPHA:91547
Tsh-Secreting Pituitary Adenoma
Periodic hypokalemic paresis, Increased circulating prolactin concentration, Central adrenal insu... ORPHA:91347
Arthrogryposis Multiplex Congenita 5
Intrauterine growth retardation, Growth delay, Akinesia OMIM:618947
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Brain abscess, Liver abscess, Neutrophilia ORPHA:54251
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Tremor OMIM:274150
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Wilson Disease
Aminoaciduria, Poor motor coordination, Hypouricemia, Hypoalbuminemia, Hand tremor, Decreased cir... OMIM:277900
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia ORPHA:293173
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
African Trypanosomiasis
Difficulty walking, Akinesia, Abnormality of circulating cortisol level, Abnormality of renin-ang... ORPHA:3385
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Adrenal pheochromocytoma, Pancreatic islet cell adenoma... ORPHA:892
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Leukocytosis, Neutrophilia OMIM:617099
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Dpagt1-Cdg
Inability to walk, Akinesia, Ataxia ORPHA:86309
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Autoimmune th... OMIM:620565
Pneumocystosis
Abnormal neutrophil count ORPHA:723

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.

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
Sprem1(IMPC)H Inter-exon deletion Mice
Sprtm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sprtm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

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

Subscribe to newsletter