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Gene: Spr MGI:103078

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 neutrophil cell number		Spr^em1(IMPC)H	HET		Early adult	1.67×10^-07
increased grip strength		Spr^em1(IMPC)H	HET		Early adult	9.54×10^-05

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

MicroCT E18.5

Embryo reconstruction

4 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

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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.

Human diseases associated with Spr (2 diseases)
Human diseases predicted to be associated with Spr (431 diseases)

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		Bradykinesia, Small for gestational age, Limb hypertonia, Oculogyric crisis, Rigidity, Cerebral p...	ORPHA:70594
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency		Growth delay, Ataxia, Tremor, Transient hyperphenylalaninemia, Choreoathetosis, Spasticity, Oculo...	OMIM:612716

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

Disease	Matching phenotypes	Source
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Hypertonia, Hypomagnesemia, Maturity-onset diabetes of the young, Oculogyric crisis, Abnormal cir...	ORPHA:1578
Acid-Labile Subunit Deficiency	Reduced insulin like growth factor binding protein acid labile subunit concentration, Decreased s...	OMIM:615961
Dystonia, Dopa-Responsive	Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti...	OMIM:128230
Parkinson Disease 15, Autosomal Recessive Early-Onset	Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par...	OMIM:260300
Episodic Ataxia, Type 1	Babinski sign, Elevated circulating creatine kinase concentration, Tremor, Incoordination, Spasti...	OMIM:160120
Parkinsonism With Spasticity, X-Linked	Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity	OMIM:300911
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni...	ORPHA:521406
Spinocerebellar Ataxia Type 20	Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica...	ORPHA:101110
Paralysis Agitans, Juvenile, Of Hunt	Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia	OMIM:168100
Dystonia 16	Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Unsteady gait, P...	ORPHA:210571
Spinocerebellar Ataxia Type 12	Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an...	ORPHA:98762
Basal Ganglia Calcification, Idiopathic, 1	Abnormal circulating calcium concentration, Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal ...	OMIM:213600
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Hyperphenylalaninemia, Bh4-Deficient, A	Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Parkinsonism, Rigidity, Tremor, Chor...	OMIM:261640
Parkinson Disease 2, Autosomal Recessive Juvenile	Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia	OMIM:600116
Thrombocytopenia, Cyclic	Cyclic neutropenia, Thrombocytopenia, Neutropenia	OMIM:188020
Cyanide-Induced Parkinsonism-Dystonia	Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl...	ORPHA:306692
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia	OMIM:610297
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ...	OMIM:607688
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Bradykinesia, Hemidystonia, Short stature, Abnormal pyramidal sign, Spastic tetraparesis, Spastic...	OMIM:619052
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk...	ORPHA:314632
Autosomal Dominant Spastic Paraplegia Type 3	Growth delay, Bradykinesia, Tip-toe gait, Ankle clonus, Babinski sign, Rigidity, Frequent falls, ...	ORPHA:100984
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas...	OMIM:300423
Huntington Disease-Like 2	Action tremor, Bradykinesia, Rigidity, Chorea, Weight loss, Dystonia	OMIM:606438
Cyclic Neutropenia	Cyclic neutropenia, Neutropenia	OMIM:162800
Parkinson Disease 22, Autosomal Dominant	Gait disturbance, Tremor, Bradykinesia, Resting tremor	OMIM:616710
Parkinson Disease 19A, Juvenile-Onset	Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ...	OMIM:615528
Corticobasal Syndrome	Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or...	ORPHA:454887
Dystonia 12	Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia	OMIM:128235
Autosomal Recessive Dopa-Responsive Dystonia	Ataxia, Bradykinesia, Oculogyric crisis, Babinski sign, Parkinsonism, Rigidity, Myoclonus, Gait a...	ORPHA:101150
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Progressive Supranuclear Palsy-Corticobasal Syndrome	Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu...	ORPHA:240103
Parkinson Disease 6, Autosomal Recessive Early-Onset	Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Dystonia	OMIM:605909
Spastic Paraplegia 80, Autosomal Dominant	Bradykinesia, Limb ataxia, Babinski sign, Spastic paraplegia, Gait disturbance, Upper limb spasti...	OMIM:618418
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea, Dystonia	OMIM:618317
Infantile Dystonia-Parkinsonism	Hypertonia, Bradykinesia, Limb hypertonia, Abnormal pyramidal sign, Parkinsonism, Oculogyric cris...	ORPHA:238455
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Bradykinesia, Short stature, Rigidity, Tremor, Dystonia	OMIM:617836
Parkinson Disease 5, Autosomal Dominant, Susceptibility To	Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia	OMIM:613643
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Hypertonia, Bradykinesia, Limb ataxia, Babinski sign, Parkinsonism, Rigidity, Limb dystonia, Gene...	OMIM:618824
Rapid-Onset Dystonia-Parkinsonism	Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Limb...	ORPHA:71517
Juvenile Huntington Disease	Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidity, Chore...	ORPHA:248111
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance	ORPHA:228169
Neurodegeneration With Brain Iron Accumulation 5	Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin...	OMIM:300894
Neurodegeneration With Brain Iron Accumulation 6	Oromandibular dystonia, Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturban...	OMIM:615643
Dystonia 16	Bradykinesia, Laryngeal dystonia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Gait distur...	OMIM:612067
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations	OMIM:183050
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Striatal Degeneration, Autosomal Dominant 1	Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance	OMIM:609161
Atypical Juvenile Parkinsonism	Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri...	ORPHA:391411
Parkinson Disease 17	Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor	OMIM:614203
Spinocerebellar Ataxia 17	Broad-based gait, Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Park...	OMIM:607136
Spastic Paraplegia 78, Autosomal Recessive	Ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal sign, Babinski sign, Parkinsonism, Falls...	OMIM:617225
Parkinsonism-Dystonia 1, Infantile-Onset	Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par...	OMIM:613135
Hypermanganesemia With Dystonia 2	Oromandibular dystonia, Clumsiness, Bradykinesia, Inability to walk, Opisthotonus, Tip-toe gait, ...	OMIM:617013
Rett Syndrome	Motor stereotypy, Failure to thrive, Inability to walk, Bradykinesia, Hyperammonemia, Increased s...	ORPHA:778
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Falls, T...	ORPHA:240085
Leukoencephalopathy, Brain Calcifications, And Cysts	Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno...	OMIM:614561
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Bradykinesia, Small for gestational age, Limb hypertonia, Oculogyric crisis, Rigidity, Cerebral p...	ORPHA:70594
Huntington Disease	Gait imbalance, Clumsiness, Bradykinesia, Poor fine motor coordination, Inability to walk, Myoclo...	ORPHA:399
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Lethargy, Ataxia, Bradykinesia, Chorea	OMIM:618683
Lopes-Maciel-Rodan Syndrome	Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai...	OMIM:617435
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Parkinsonism With Polyneuropathy	Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ...	OMIM:619279
Caribbean Parkinsonism	Action tremor, Bradykinesia, Myoclonus, Rigidity, Parkinsonism, Weakness due to upper motor neuro...	ORPHA:97355
X-Linked Dystonia-Parkinsonism	Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu...	ORPHA:53351
Delayed Encephalopathy Due To Carbon Monoxide Poisoning	Rigidity, Bradykinesia	ORPHA:306686
Neurodegeneration With Brain Iron Accumulation 3	Decreased circulating ferritin concentration, Ataxia, Blepharospasm, Laryngeal dystonia, Bradykin...	OMIM:606159
Hypermanganesemia With Dystonia 1	Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Abnormality of extrapyramidal mo...	OMIM:613280
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Broad-based gait, Hypertonia, Bradykinesia, Limb hypertonia, Oculogyric crisis, Parkinsonism, Dys...	OMIM:617384
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3	Tremor, Ataxia, Slurred speech	OMIM:613227
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh...	OMIM:300055
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidity, Parkinsonism, Pos...	OMIM:619911
Specific Granule Deficiency 1	Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri...	OMIM:245480
Spinocerebellar Ataxia, Autosomal Recessive 32	Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Gait ataxia, Postural tremor	OMIM:619862
Atypical Progressive Supranuclear Palsy Syndrome	Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom...	ORPHA:99750
Beta-Propeller Protein-Associated Neurodegeneration	Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Dystonia	ORPHA:329284
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Abnormality of extrapyramidal motor function, Ocu...	ORPHA:13
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Parkinson Disease 7, Autosomal Recessive Early-Onset	Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra...	OMIM:606324
Neutrophilia, Hereditary	Hepatosplenomegaly, Neutrophilia	OMIM:162830
Episodic Ataxia With Slurred Speech	Tremor, Gait ataxia, Slurred speech	ORPHA:401953
Spastic Paraparesis And Deafness	Tremor, Short stature, Spastic paraparesis, Hypogonadism	OMIM:312910
Huntington Disease	Rigidity, Gait ataxia, Bradykinesia, Chorea	OMIM:143100
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Bradykinesia, Parkinsonism, Falls, Shuffling gait, Short stepped shuffling gait	ORPHA:412066
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Hyperglycinemia, Babinski sign, Bradykinesia	OMIM:619063
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Shuffling gait, Spasticity, Apraxia	OMIM:221820
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia	ORPHA:306669
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ...	OMIM:615157
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Elevated circulating creatine kinase concentration, Difficulty walking	OMIM:615048
Kufor-Rakeb Syndrome	Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,...	OMIM:606693
Leber Optic Atrophy And Dystonia	Bradykinesia, Athetosis, Spasticity, Upper motor neuron dysfunction, Dystonia	OMIM:500001
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism...	OMIM:619725
Autosomal Recessive Progressive External Ophthalmoplegia	Ataxia, Action tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykine...	ORPHA:254886
Segawa Syndrome, Autosomal Recessive	Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis...	OMIM:605407
Huntington Disease-Like 1	Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Simultanapraxia, Chorea, Frequ...	ORPHA:157941
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Mildly elevated creatine kinase	OMIM:614369
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Lower limb spasticity, Bradykinesia	OMIM:618878
X-Linked Parkinsonism-Spasticity Syndrome	Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity...	ORPHA:363654
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Saccharopinuria	Citrullinuria, Hyperlysinemia, Cystinuria, Hyperammonemia, Short stature, Spastic diplegia, Tremo...	ORPHA:3124
Parkinson Disease 14, Autosomal Recessive	Loss of ambulation, Axial dystonia, Clumsiness, Bradykinesia, Resting tremor, Hand tremor, Ankle ...	OMIM:612953
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Leukoencephalopathy with metaphyseal chondrodysplasia	Spastic paraplegia, Tremor, Babinski sign, Gait disturbance	OMIM:300660
Spinocerebellar Ataxia 2	Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Myocl...	OMIM:183090
Spinocerebellar Ataxia 43	Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia	OMIM:617018
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H...	OMIM:618877
Neuronopathy, Distal Hereditary Motor, Type Viia	Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis	OMIM:158580
Paragangliomas 6	Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Mitochondrial Membrane Protein-Associated Neurodegeneration	Bradykinesia, Hand tremor, Spastic paraparesis, Babinski sign, Parkinsonism, Rigidity, Frequent f...	ORPHA:289560
Fragile X Tremor/Ataxia Syndrome	Action tremor, Bradykinesia, Poor fine motor coordination, Resting tremor, Dysmetria, Intention t...	OMIM:300623
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Ataxia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Hypothyroidism, Transie...	ORPHA:98808
Neuroferritinopathy	Leg dystonia, Decreased circulating ferritin concentration, Blepharospasm, Bradykinesia, Resting ...	ORPHA:157846
Spinocerebellar Ataxia Type 1	Gait imbalance, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Dysdiadochokinesis, Fasci...	ORPHA:98755
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor	OMIM:264070
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Ataxia, Babinski sign, Spasticity	OMIM:611105
Multiple System Atrophy	Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal s...	ORPHA:102
Classic Progressive Supranuclear Palsy Syndrome	Gait imbalance, Parkinsonism with favorable response to dopaminergic medication, Progressive extr...	ORPHA:240071
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Ataxia, Bradykinesia, Dysmetria, Truncal ataxia, Hemiparesis, Gait ataxia, Incoordination, Dyston...	OMIM:601338
Spinocerebellar Ataxia Type 15/16	Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a...	ORPHA:98769
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Short stature, Hypogonadism, Postnatal growth retardation, Dystonia, Central hypothyroidism	OMIM:616113
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Childhood-Onset Nemaline Myopathy	Slender build, Clumsiness, Bradykinesia, Difficulty walking, Waddling gait, Mildly elevated creat...	ORPHA:171439
Adult-Onset Nemaline Myopathy	Difficulty walking, Bradykinesia, Mildly elevated creatine kinase	ORPHA:171442
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
Primary Dystonia, Dyt13 Type	Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar...	ORPHA:98807
Combined Oxidative Phosphorylation Deficiency 12	Spastic tetraparesis, Failure to thrive, Bradykinesia, Dystonia	OMIM:614924
Spinocerebellar Ataxia 37	Frequent falls, Tremor, Ataxia, Unsteady gait	OMIM:615945
Multiple System Atrophy, Cerebellar Type	Broad-based gait, Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Li...	ORPHA:227510
Gerstmann-Straussler Disease	Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia...	OMIM:137440
Inherited Creutzfeldt-Jakob Disease	Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin...	ORPHA:282166
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal s...	ORPHA:98933
Primary Dystonia, Dyt27 Type	Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ...	ORPHA:464440
Spinocerebellar Ataxia 10	Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Babinski...	OMIM:603516
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Machado-Joseph Disease	Ataxia, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Abnormality of extrapyramidal m...	OMIM:109150
Perry Syndrome	Akinesia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Weight loss, Dystonia, Short stepped shuf...	OMIM:168605
Dyskinesia, Limb And Orofacial, Infantile-Onset	Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait	OMIM:616921
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Bradykinesia, Limb ataxia, Intention tremor, Babinski sign, Elevated circulating creatine kinase ...	OMIM:258450
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait	ORPHA:494526
Glutathionuria	Tremor	OMIM:231950
Spinocerebellar Ataxia, Autosomal Recessive 16	Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait, Hypo...	OMIM:615768
Generalized Epilepsy With Febrile Seizures-Plus	Ataxia, Bradykinesia, Poor fine motor coordination, Tremor, Incoordination	ORPHA:36387
Sporadic Infantile Bilateral Striatal Necrosis	Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Babinski ...	ORPHA:225147
Dystonia 28, Childhood-Onset	Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Short stature...	OMIM:617284
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor, Gait disturbance	OMIM:611808
Atypical Pantothenate Kinase-Associated Neurodegeneration	Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq...	ORPHA:216873
Myopathy, Spheroid Body	Broad-based gait, Tremor, Elevated circulating creatine kinase concentration, Waddling gait	OMIM:182920
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Parkinson Disease 21	Tremor, Rigidity, Bradykinesia, Parkinsonism	OMIM:616361
Spinocerebellar Ataxia, Autosomal Recessive 4	Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations...	OMIM:607317
Dystonia 3, Torsion, X-Linked	Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi...	OMIM:314250
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Parkinsonism, Bradykinesia, Resting tremor	OMIM:614251
Spinocerebellar Ataxia Type 38	Tremor, Difficulty walking, Gait ataxia	ORPHA:423296
Spinocerebellar Ataxia Type 31	Tremor, Gait ataxia, Spasticity	ORPHA:217012
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia	OMIM:618425
Adult-Onset Dystonia-Parkinsonism	Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Myoclo...	ORPHA:199351
Manganese Poisoning	Hypertonia, Akinesia, Bradykinesia, Abnormality of extrapyramidal motor function, Gait disturbanc...	ORPHA:306682
Cerebral Creatine Deficiency Syndrome 2	Paraparesis, Hypertonia, Ataxia, Elevated circulating guanidinoacetic acid concentration, Myoclon...	OMIM:612736
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceridemia, Tremor, Spasticit...	OMIM:615924
Dravet Syndrome	Action tremor, Bradykinesia, Poor fine motor coordination, Myoclonus, Rigidity, Parkinsonism, Cog...	ORPHA:33069
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap...	ORPHA:79262
Parkinson Disease 8, Autosomal Dominant	Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Ri...	OMIM:607060
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Failure to thrive, Short stature, Decreased serum creatinine, Tremor, Growth delay, Intrauterine ...	OMIM:617744
Leukoencephalopathy, Progressive, With Ovarian Failure	Ataxia, Tremor, Spasticity, Apraxia, Dystonia	OMIM:615889
Waisman Syndrome	Bradykinesia, Resting tremor, Parkinsonism, Cogwheel rigidity, Shuffling gait	OMIM:311510
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Motor stereotypy, Tremor, Ataxia, Short stature	OMIM:617862
Spinocerebellar Ataxia Type 13	Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Short stature, Myoclonus, Titubation, Difficu...	ORPHA:98768
Combined Oxidative Phosphorylation Deficiency 15	Ataxia, Short stature, Abnormal pyramidal sign, Tremor, Unsteady gait, Incoordination, Obesity	OMIM:614947
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Myoclonus, Hypothyroidism, Tremor, Frequent falls, Dystonia	OMIM:619647
Intellectual Developmental Disorder, Autosomal Recessive 6	Tremor, Myoclonus, Involuntary movements, Dystonia	OMIM:611092
Xeroderma Pigmentosum, Complementation Group G	Ataxia, Small for gestational age, Tremor, Spasticity, Growth delay	OMIM:278780
Lower Motor Neuron Syndrome With Late-Adult Onset	Inability to walk, Elevated circulating creatine kinase concentration, Fasciculations, Gait distu...	ORPHA:276435
Agammaglobulinemia 7, Autosomal Recessive	Neutropenia	OMIM:615214
Primary Progressive Freezing Gait	Gait imbalance, Bradykinesia, Babinski sign, Rigidity, Frequent falls, Difficulty walking, Shuffl...	ORPHA:75567
Postencephalitic Parkinsonism	Akinesia, Bradykinesia, Resting tremor, Tremor by anatomical site, Oculogyric crisis, Babinski si...	ORPHA:97349
Autosomal Dominant Spastic Ataxia Type 1	Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T...	ORPHA:251282
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function	OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Stepp...	OMIM:618387
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Spinocerebellar Ataxia Type 37	Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ...	ORPHA:363710
Epilepsy, Progressive Myoclonic, 6	Loss of ambulation, Ataxia, Myoclonus, Elevated circulating creatine kinase concentration, Tremor...	OMIM:614018
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Migraine, Familial Hemiplegic, 1	Hemiplegia, Tremor, Ataxia, Hemiparesis	OMIM:141500
Autosomal Recessive Spastic Paraplegia Type 77	Loss of ambulation, Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Weakness due to upp...	ORPHA:466722
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk, Stereotypical hand wringing	OMIM:619561
Spinocerebellar Ataxia, Autosomal Recessive 2	Ataxia, Dysmetria, Limb ataxia, Short stature, Tremor, Gait ataxia, Spasticity, Unsteady gait, In...	OMIM:213200
Lichtenstein-Knorr Syndrome	Ataxia, Action tremor, Dysmetria, Limb ataxia, Short stature, Dysdiadochokinesis, Gait ataxia	OMIM:616291
Parkinsonian-Pyramidal Syndrome	Bradykinesia, Intention tremor, Myoclonus, Abnormal pyramidal sign, Babinski sign, Parkinsonism, ...	ORPHA:171695
Parkinson Disease 1, Autosomal Dominant	Bradykinesia, Resting tremor, Myoclonus, Rigidity, Parkinsonism, Gait disturbance, Shuffling gait...	OMIM:168601
Hyperphenylalaninemia, Bh4-Deficient, C	Hypertonia, Myoclonus, Tremor, Choreoathetosis, Hyperphenylalaninemia, Dystonia	OMIM:261630
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Parkinson Disease 20, Early-Onset	Bradykinesia, Rigidity, Parkinsonism, Eyelid apraxia, Tremor, Shuffling gait, Dystonia	OMIM:615530
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation	Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ...	OMIM:270500
Parkinson Disease, Late-Onset	Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor, Dystonia, Short stepped shuffling gait	OMIM:168600
Hsd10 Disease	Ataxia, Spastic paraparesis, Abnormal urinary acylglycine profile, Myoclonus, Rigidity, Gait dist...	ORPHA:391417
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Spinocerebellar Ataxia 48	Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia	OMIM:618093
Progressive Supranuclear Palsy	Blepharospasm, Bradykinesia, Rigidity, Falls, Tremor, Unsteady gait, Dystonia	ORPHA:683
Hereditary Late-Onset Parkinson Disease	Parkinsonism with favorable response to dopaminergic medication, Akinesia, Bradykinesia, Resting ...	ORPHA:411602
Spinocerebellar Ataxia Type 8	Ataxia, Bradykinesia, Limb ataxia, Rigidity, Spastic dysarthria, Gait ataxia, Spasticity, Unstead...	ORPHA:98760
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Ataxia, Failure to thrive	OMIM:618951
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Myoclonus, Failure to thrive, Dystonia	OMIM:619651
Spastic Ataxia 2, Autosomal Recessive	Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci...	OMIM:611302
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Growth delay, Ataxia, Tremor, Transient hyperphenylalaninemia, Choreoathetosis, Spasticity, Oculo...	OMIM:612716
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hypertonia, Decreased circulating ferritin concentration, Action tremor, Bradykinesia, Poor fine ...	ORPHA:309854
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Hypergonadotropic hypogonadism, Intention tremor, Hemiparesis, Tremor, Elevated levels of...	OMIM:614307
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Tremor, Pancreatic islet-cell hyperplasia, Incre...	ORPHA:276608
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia	OMIM:615285
Mitochondrial Myopathy With Lactic Acidosis	Growth delay, Dysmetria, Tip-toe gait, Increased serum pyruvate, Hemiparesis, Spasticity, Hyperal...	OMIM:251950
Glycogen Storage Disease Vi	Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia, Postnatal growth retardation, Failure...	OMIM:232700
Autosomal Dominant Progressive External Ophthalmoplegia	Hypertonia, Ataxia, Failure to thrive, Bradykinesia, Hyperthyroidism, Resting tremor, Elevated ci...	ORPHA:254892
Proximal Myopathy With Extrapyramidal Signs	Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy...	ORPHA:401768
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Slowed slurred speech, Bradykinesia	OMIM:619827
Neurodegeneration With Brain Iron Accumulation 8	Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait	OMIM:617917
Autosomal Spastic Paraplegia Type 58	Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Short stature, Babinsk...	ORPHA:397946
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Dysmetria, Limb ataxia, Hypergonadotropic hypogonadism, Dysdiadochokinesis, Abnormal pyra...	OMIM:617145
Behr Syndrome	Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance	OMIM:210000
Dystonia 11, Myoclonic	Torticollis, Tremor, Myoclonus, Writer's cramp	OMIM:159900
Urocanic Aciduria	Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Abnormal circulating histidine concentra...	ORPHA:210128
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Testicular atrophy, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia...	OMIM:157640
Spinocerebellar Ataxia 18	Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia	OMIM:607458
Neurodegeneration With Brain Iron Accumulation 2B	Hypertonia, Bradykinesia, Dysmetria, Intention tremor, Dysdiadochokinesis, Babinski sign, Chorea,...	OMIM:610217
Epilepsy, Progressive Myoclonic, 1B	Tremor, Babinski sign, Dysmetria	OMIM:612437
Neurodegeneration With Brain Iron Accumulation 1	Ataxia, Akinesia, Blepharospasm, Bradykinesia, Babinski sign, Abnormal pyramidal sign, Parkinsoni...	OMIM:234200
4H Leukodystrophy	Ataxia, Upper motor neuron dysfunction, Decreased response to growth hormone stimulation test, Dy...	ORPHA:289494
Galactosemia	Gait imbalance, Failure to thrive, Ataxia, Action tremor, Increased level of galactitol in plasma...	ORPHA:352
Spinocerebellar Ataxia 7	Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ...	OMIM:164500
Short Stature, Dauber-Argente Type	Postnatal growth retardation, Fasting hyperinsulinemia, Short stature, Increased insulin like gro...	OMIM:619489
Hyperphenylalaninemia, Bh4-Deficient, B	Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Hyperphenylalaninemia...	OMIM:233910
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor	OMIM:618090
Neutropenia, Severe Congenital, X-Linked	Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Spinocerebellar Ataxia, Autosomal Recessive 30	Ataxia, Dysmetria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, ...	OMIM:619405
Aicardi-Goutieres Syndrome 6	Tremor, Loss of ambulation, Rigidity, Dystonia	OMIM:615010
Atypical Rett Syndrome	Loss of ambulation, Inability to walk, Hand apraxia, Pill-rolling tremor, Stereotypical hand wrin...	ORPHA:3095
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Tremor, Elevated circulating creatine kinase concentration, Inability to walk, Limb fasciculations	ORPHA:90117
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Ataxia, Tremor, Short stature	ORPHA:1368
Spinocerebellar Ataxia Type 14	Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia	ORPHA:98763
Spinocerebellar Ataxia 23	Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia	OMIM:610245
Primary Dystonia, Dyt2 Type	Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor...	ORPHA:99657
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Hyperinsulinemia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceridemia,...	ORPHA:363400
Parkinsonism-Dystonia 2, Infantile-Onset	Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Incoordinati...	OMIM:618049
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Bradykinesia, Dysmetria, Intention tremor, Parkinsonism, Rigidity, Hypothyroidism, Gait d...	ORPHA:93256
Immunodeficiency 21	Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope...	OMIM:614172
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia	OMIM:608105
Dopa-Responsive Dystonia	Leg dystonia, Inability to walk, Poor coordination, Abnormality of extrapyramidal motor function,...	ORPHA:255
Leukodystrophy, Hypomyelinating, 6	Ataxia, Short stature, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia	OMIM:612438
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Inability to walk, Delayed menarche, Oculogyric crisis, Tremor, Difficulty walking, Dystonia	ORPHA:330050
Spastic Paraplegia 6, Autosomal Dominant	Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity	OMIM:600363
Young-Onset Parkinson Disease	Gait imbalance, Bradykinesia, Rigidity, Tremor, Spasticity, Dystonia	ORPHA:2828
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye...	OMIM:619041
Cystathioninuria	Tremor, Cystathioninemia, Cystathioninuria	ORPHA:212
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Resting tremor, Short stature, Parkinsonism, Tremor, Shuffling gait, Obesity, L...	ORPHA:3077
Urocanase Deficiency	Tremor, Ataxia, Short stature	OMIM:276880
Coenzyme Q10 Deficiency, Primary, 9	Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait	OMIM:619028
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequent falls, Tremor, Difficulty walk...	ORPHA:2590
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking	OMIM:613608
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Failure to thrive, Babinski sign, Spastic paraplegia, Tremor, Difficulty walking	ORPHA:477673
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Loss of ambulation, Dysmetria, Short stature, Hypogonadotropic hypogonadism, Babinski sig...	OMIM:607694
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Leukodystrophy, Hypomyelinating, 11	Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity	OMIM:616494
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Inability to walk, Dysmetria, Short stature, Dysdiadochokinesis, Abnormal pyramidal sign,...	OMIM:614831
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Choreoathetosis, Reduced haptoglobin level, Dystonia	OMIM:612126
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Loss of ambulation, Limb ataxia, Elevated circulating creatine kinase concentration, Trun...	OMIM:208920
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Falls, Unsteady gait, Short stepp...	ORPHA:240094
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Paragangliomas 1	Glomus jugular tumor, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Vagal parag...	OMIM:168000
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Ataxia-Telangiectasia	Failure to thrive, Ataxia, Type II diabetes mellitus, Short stature, Gait disturbance, Tremor, Sp...	ORPHA:100
Paragangliomas 3	Glomus jugular tumor, Extraadrenal pheochromocytoma, Elevated circulating catecholamine level, Ad...	OMIM:605373
Aceruloplasminemia	Increased circulating ferritin concentration, Torticollis, Ataxia, Akinesia, Blepharospasm, Limb ...	ORPHA:48818
Kufor-Rakeb Syndrome	Hypertonia, Lingual dystonia, Blepharospasm, Bradykinesia, Oculogyric crisis, Babinski sign, Park...	ORPHA:306674
Coenzyme Q10 Deficiency, Primary, 4	Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus	OMIM:612016
Parkinsonism-Dystonia 3, Childhood-Onset	Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Growth d...	OMIM:619738
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,...	ORPHA:79263
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Tremor, Unconjugated hyperbilirubinemia	ORPHA:79234
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, H...	ORPHA:453533
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Spastic tetraparesis, Tremor, Broad-based gait, Motor stereotypy	OMIM:619470
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Growth delay, Ataxia, Hyperlysinemia, Hypervalinemia, Clumsin...	OMIM:615673
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro...	OMIM:608203
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Short stature, Delayed puberty, Postnatal growth retardation, Decreased serum insulin-like growth...	OMIM:618985
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Testicular atrophy, Elevated circulating creatine kinase concentration, Fasciculations	OMIM:313200
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Supranuclear Palsy, Progressive, 2	Gait imbalance, Akinesia, Axial dystonia, Bradykinesia, Retrocollis, Rigidity, Parkinsonism, Fall...	OMIM:609454
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Hypokalemia, Hyperthyroidism, Periodic paralysis, Tr...	OMIM:613239
Late-Onset Familial Hypoaldosteronism	Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr...	ORPHA:556037
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia	OMIM:618587
X-Linked Charcot-Marie-Tooth Disease Type 1	Gait disturbance, Tremor, Ataxia	ORPHA:101075
Multiple System Atrophy 1, Susceptibility To	Ataxia, Bradykinesia, Babinski sign, Rigidity, Parkinsonism, Tremor	OMIM:146500
Ataxia With Vitamin E Deficiency	Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sig...	ORPHA:96
Supranuclear Palsy, Progressive, 1	Gait imbalance, Akinesia, Axial dystonia, Bradykinesia, Retrocollis, Parkinsonism, Rigidity, Fall...	OMIM:601104
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Ataxia, Decreased serum testosterone concentration, Short stature, Tremor, Dec...	OMIM:201100
Spastic Paraplegia 9B, Autosomal Recessive	Pseudobulbar paralysis, Short stature, Babinski sign, Spastic paraplegia, Tremor, Gait disturbanc...	OMIM:616586
Choreoacanthocytosis	Laryngeal dystonia, Chorea, Falls, Limb dystonia, Weight loss, Slurred speech, Hypertonia, Loss o...	ORPHA:2388
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Myoclonus, Fasciculations, Frequent falls, Tremor, Difficulty walking, Tongue fasciculations	OMIM:159950
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2	Dysmetria, Short stature, Dysdiadochokinesis, Truncal ataxia, Tremor	OMIM:610185
Spinocerebellar Ataxia Type 27	Akinesia, Limb ataxia, Truncal ataxia, Gait disturbance, Difficulty walking, Gait ataxia	ORPHA:98764
Autosomal Dominant Cerebellar Ataxia	Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto...	ORPHA:99
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr...	ORPHA:556030
Peroxisome Biogenesis Disorder 5B	Ataxia, Dysmetria, Tremor, Elevated levels of phytanic acid, Unsteady gait, Oculomotor apraxia	OMIM:614867
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Dystonia	ORPHA:139485
Pelizaeus-Merzbacher Disease	Broad-based gait, Failure to thrive, Ataxia, Inability to walk, Short stature, Intention tremor, ...	OMIM:312080
Brain Dopamine-Serotonin Vesicular Transport Disease	Hypertonia, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Parkinsonism, Abnormality of coordinat...	ORPHA:352649
Spinocerebellar Ataxia, Autosomal Recessive 21	Ataxia, Frequent falls, Tremor, Gait ataxia, Spasticity	OMIM:616719
Pyruvate Dehydrogenase Deficiency	Ataxia, Cerebral palsy, Abnormal pyramidal sign, Gait disturbance, Tremor, Choreoathetosis, Spast...	ORPHA:765
X-Linked Charcot-Marie-Tooth Disease Type 4	Gait disturbance, Tremor, Ataxia	ORPHA:101078
Insulinoma	Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl...	ORPHA:97279
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hypertonia, Short stature, Gait disturbance, Tremor, Type I diabetes mellitus	ORPHA:1192
Perry Syndrome	Tremor, Weight loss, Parkinsonism, Abnormality of extrapyramidal motor function	ORPHA:178509
Developmental And Epileptic Encephalopathy 42	Hypertonia, Ataxia, Tremor, Athetosis	OMIM:617106
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Paraparesis, Hand tremor, Dysmetria, Tip-toe gait, Babinski sign, Frequent falls, Tremor, Difficu...	OMIM:302800
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Dysmetria, Short stature, Tremor, Gait ataxia, Spasticity, Poor motor coordination, Oculo...	ORPHA:1170
Glycosylphosphatidylinositol Biosynthesis Defect 15	Inability to walk, Dysmetria, Tremor, Gait ataxia, Spasticity, Apraxia	OMIM:617810
Non-Specific Early-Onset Epileptic Encephalopathy	Failure to thrive, Ataxia, Short stature, Limb hypertonia, Myoclonus, Rigidity, Tremor, Difficult...	ORPHA:442835
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Hyperinsulinism Due To Hnf4A Deficiency	Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f...	ORPHA:263455
Pure Autonomic Failure	Abnormality of circulating catecholamine level	ORPHA:441
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Dysmetria, Short stature, Intention tremor, Hypogonadotropic hypogonadism, Dysdiadochokin...	OMIM:614381
Spinocerebellar Ataxia Type 21	Akinesia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyram...	ORPHA:98773
Intellectual Developmental Disorder, X-Linked 12	Small for gestational age, Short stature, Increased body mass index, Hyperkinetic movements, Trun...	OMIM:300957
Neurodegeneration With Brain Iron Accumulation 4	Oromandibular dystonia, Ataxia, Loss of ambulation, Babinski sign, Elevated circulating creatine ...	OMIM:614298
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Motor stereotypy, Decreased response to growth hormone stimulation test, Short stature, Hyperkine...	ORPHA:457240
Myopathy, Mitochondrial, And Ataxia	Ataxia, Inability to walk, Hyperthyroidism, Limb ataxia, Dysmetria, Short stature, Dysdiadochokin...	OMIM:617675
Spinocerebellar Ataxia 42	Ataxia, Babinski sign, Abnormal pyramidal sign, Tremor, Unsteady gait, Spastic gait, Spastic ataxia	OMIM:616795
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Hypertonia, Loss of ambulation, Clumsiness, Progressive cerebellar ataxia, Poor fine motor coordi...	ORPHA:137898
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Akinesia, Increased serum pyruvate, Hypothyroidism, Hyperalaninemia, Growth delay	OMIM:619147
Oculopharyngodistal Myopathy 3	Tremor, Ataxia, Elevated circulating creatine kinase concentration	OMIM:619473
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio...	OMIM:607671
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Failure to thrive, Ataxia, Inability to walk, Hypertonia, Tremor	OMIM:619556
Spinocerebellar Ataxia, X-Linked 4	Tremor, Ataxia, Abnormal pyramidal sign	OMIM:301840
Riboflavin Transporter Deficiency	Ataxia, Cachexia, Myoclonus, Tremor, Hypogonadism, Diabetes insipidus	ORPHA:97229
Hyperlysinemia	Argininuria, Failure to thrive, Hyperlysinemia, Clumsiness, Cystinuria, Dysmetria, Hyperammonemia...	ORPHA:2203
X-Linked Charcot-Marie-Tooth Disease Type 5	Paraparesis, Tremor, Ataxia, Gait disturbance	ORPHA:99014
Diamond-Blackfan Anemia 4	Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia	OMIM:612527
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures	Akinesia, Short stature	OMIM:618822
Ddost-Cdg	Failure to thrive, Short stature, Oromotor apraxia, Tremor, Primary hypothyroidism	ORPHA:300536
Maternal Uniparental Disomy Of Chromosome 4	Ataxia, Decreased body weight, Postnatal growth retardation, Dysmetria, Short stature, Abetalipop...	ORPHA:96180
Late-Infantile/Juvenile Krabbe Disease	Hemiplegia, Ataxia, Upper motor neuron dysfunction, Clumsiness, Loss of ambulation, Spastic parap...	ORPHA:206443
Cln5 Disease	Ataxia, Poor gross motor coordination, Clumsiness, Inability to walk, Dysmetria, Dysdiadochokines...	ORPHA:228360
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor, Elevated circulating creatine kinase concentration	OMIM:619790
Citrullinemia Type Ii	Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Delayed menarche, Decreased HDL cholestero...	ORPHA:247585
Parkinson-Dementia Syndrome	Tremor, Rigidity, Abnormal pyramidal sign, Parkinsonism	OMIM:260540
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Hypertonia, Oromandibular dystonia, Inability to walk, Blepharospasm, Babinski sign,...	OMIM:128100
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Intrauterine growth retardation, Dysmetria	OMIM:615578
Mohr-Tranebjaerg Syndrome	Oromandibular dystonia, Inability to walk, Ankle clonus, Babinski sign, Abnormal pyramidal sign, ...	ORPHA:52368
Spinocerebellar Ataxia 21	Akinesia, Ataxia, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia	OMIM:607454
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Hypertonia, Ataxia, Dysmetria, Intention tremor, Myoclonus, Babinski sign, Tremor, Gait ataxia, S...	OMIM:616505
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Frequent falls, Tremor, Difficulty walking, Mildly elevated creatine kinase, Fascic...	ORPHA:329478
Ataxia-Telangiectasia	Failure to thrive, Ataxia, Inability to walk, Progressive cerebellar ataxia, Short stature, Eleva...	OMIM:208900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Failure to thrive, Ataxia, Hyperammonemia, Intention tremor, Small for gestational age, Neonatal ...	OMIM:614052
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia, Intrauterine growth retardation	OMIM:225790
Classic Phenylketonuria	Hemiplegia, Hypertonia, Tremor, Paraplegia, Hyperphenylalaninemia, Growth delay	ORPHA:79254
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Dysmetria, Tremor, Difficulty walking, Gait ataxia, Spasticity, Oculomotor apraxia	ORPHA:529665
Spinocerebellar Ataxia 8	Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Incoordination	OMIM:608768
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Type II diabetes mellitus, Elevated circulating creatine kinase concentration, Tremor, Hy...	ORPHA:79095
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Progressive cerebellar ataxia, Hyperthyroidism, Dysmetria, Short stature, Dysdiadochokinesis, Inc...	ORPHA:502423
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Hyperammonemia, Tremor, Hyperglycinemia, Methylmalonic acidemia, Lethargy	OMIM:251100
Tay-Sachs Disease	Precocious puberty, Clumsiness, Laryngeal dystonia, Exaggerated startle response, Dysmetria, Incr...	ORPHA:845
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypertonia, Ataxia, Dysmetria, Limb hypertonia, Athetosis, Tremor, Spastic tetraplegia, Intrauter...	OMIM:617710
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Ataxia, Abnormal pyramidal sign, Incoordination, Tremor, Oculomotor apraxia, Eyelid myoclonus	OMIM:618060
Purine Nucleoside Phosphorylase Deficiency	Failure to thrive, Ataxia, Increased circulating inosine concentration, Spastic diplegia, Tetrapa...	OMIM:613179
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Paraganglioma, Tremor, Hypercalcemia, Weight loss, Vocal cord par...	ORPHA:94080
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Ataxia, Inability to walk, Short stature, Elevated circulating creatine kinase concentration, Hyp...	OMIM:615356
Pyruvate Carboxylase Deficiency	Failure to thrive, Ataxia, Hyperlysinemia, Recurrent hand flapping, Tip-toe gait, Hyperammonemia,...	ORPHA:3008
Argininemia	Postnatal growth retardation, Spastic paraparesis, Hyperammonemia, Hyperargininemia, Diaminoacidu...	OMIM:207800
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Limb ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Abno...	OMIM:606002
Lissencephaly Type Iii And Bone Dysplasia	Akinesia	OMIM:601160
Pediatric-Onset Graves Disease	Failure to thrive, Graves disease, Increased circulating free T3, Hyperkinetic movements, Increas...	ORPHA:525731
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Thrombocytope...	ORPHA:3226
Jaberi-Elahi Syndrome	Broad-based gait, Failure to thrive, Inability to walk, Dysmetria, Appendicular spasticity, Tremo...	OMIM:617988
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Tremor, Blepharospasm, Torsion dystonia	OMIM:224500
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Failure to thrive, Hypomethioninemia, Abnormality of extrapyramidal motor function, Homocystinuri...	OMIM:277400
Multiple Pterygium Syndrome, Lethal Type	Akinesia, Intrauterine growth retardation	OMIM:253290
Coenzyme Q10 Deficiency, Primary, 1	Ataxia, Loss of ambulation, Hypergonadotropic hypogonadism, Myoclonus, Elevated circulating creat...	OMIM:607426
Arthrogryposis Multiplex Congenita 6	Akinesia	OMIM:619334
Fetal Akinesia Deformation Sequence	Akinesia, Intrauterine growth retardation	ORPHA:994
Thyrotoxic Periodic Paralysis	Hypomagnesemia, Graves disease, Hyperthyroidism, Episodic hypokalemia, Transient hypophosphatemia...	ORPHA:79102
Wolfram Syndrome 1	Testicular atrophy, Ataxia, Hypothyroidism, Tremor, Diabetes mellitus, Growth delay, Diabetes ins...	OMIM:222300
Tetanus	Hypertonia, Opisthotonus, Elevated circulating creatine kinase concentration, Rigidity, Tremor, S...	ORPHA:3299
Lethal Congenital Contracture Syndrome 2	Akinesia	OMIM:607598
Intrahepatic Cholestasis Of Pregnancy	Hyperbilirubinemia, Small for gestational age, Hypothyroidism, Tremor, Abnormal pineal melatonin ...	ORPHA:69665
Adult-Onset Autosomal Dominant Leukodystrophy	Hypertonia, Ataxia, Action tremor, Dysmetria, Intention tremor, Dysdiadochokinesis, Babinski sign...	ORPHA:99027
Myopathy, Congenital, Compton-North	Akinesia	OMIM:612540
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Akinesia, Ataxia, Dysdiadochokinesis, Shuffling gait, Gait ataxia	ORPHA:247234
Migraine, Familial Hemiplegic, 2	Hemiplegia, Dysmetria, Hemiparesis, Tremor, Gait ataxia, Apraxia, Episodic ataxia	OMIM:602481
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Cockayne Syndrome Type 1	Failure to thrive, Ataxia, Increased blood urea nitrogen, Gait disturbance, Tremor, Difficulty wa...	ORPHA:90321
Systemic Mastocytosis With Associated Hematologic Neoplasm	Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor...	ORPHA:98849
Kallmann Syndrome	Ataxia, Hypogonadotropic hypogonadism, Anterior hypopituitarism, Gait disturbance, Tremor, Parapl...	ORPHA:478
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia, Hyperbilirubinemia	ORPHA:713
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Hemiplegia, Ataxia, Short stature, Abnormality of extrapyramidal motor function, Abnormal pyramid...	OMIM:612199
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia	OMIM:619644
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Paraganglioma, Extraadrenal pheochromocytoma, Tremor, Adrenal phe...	ORPHA:29072
Gaucher Disease, Perinatal Lethal	Akinesia, Intrauterine growth retardation	OMIM:608013
Wilson Disease	Hypoparathyroidism, Parkinsonism with favorable response to dopaminergic medication, Increased ci...	OMIM:277900
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Dysmetria, Babinski sign, Spastic paraplegia, Tremor, Spasticity	OMIM:618527
Tsh-Secreting Pituitary Adenoma	Central adrenal insufficiency, Periodic hypokalemic paresis, Increased circulating prolactin conc...	ORPHA:91347
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Paraganglioma, Extraadrenal pheochromocytoma, Tremor, Hypercalcem...	ORPHA:276621
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Brain abscess, Neutrophilia	ORPHA:54251
Relapsing Fever	Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia	ORPHA:91547
Alexander Disease	Failure to thrive, Ataxia, Precocious puberty, Abnormal pyramidal sign, Chorea, Hypothyroidism, T...	ORPHA:58
Thrombotic Thrombocytopenic Purpura, Hereditary	Tremor, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Arthrogryposis Multiplex Congenita 5	Growth delay, Akinesia, Intrauterine growth retardation	OMIM:618947
Combined Oxidative Phosphorylation Deficiency 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Intrauterine growth retardati...	OMIM:610505
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis	OMIM:614204
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis	ORPHA:1302
Parkinson Disease 23, Autosomal Recessive Early-Onset	Akinesia	OMIM:616840
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Tremor	OMIM:190310
Neuroleptic Malignant Syndrome	Hypomagnesemia, Hypocalcemia, Extrapyramidal muscular rigidity, Oculogyric crisis, Elevated circu...	ORPHA:94093
Herpes Simplex Virus Encephalitis	Neutrophilia, Leukocytosis	ORPHA:1930
Adult-Onset Still Disease	Neutrophilia, Leukocytosis, Splenomegaly	ORPHA:829
African Trypanosomiasis	Abnormality of the endocrine system, Akinesia, Abnormal prolactin level, Abnormality of renin-ang...	ORPHA:3385
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Neutrophilia, Leukocytosis	OMIM:617099
Von Hippel-Lindau Disease	Paraganglioma, Elevated circulating catecholamine level, Adrenal pheochromocytoma, Pancreatic end...	ORPHA:892
Staphylococcal Necrotizing Pneumonia	Leukopenia, Neutrophilia, Leukocytosis	ORPHA:36238
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Hypertonia, Rigidity, Spasticity, Tremor	OMIM:176500
Oculopharyngodistal Myopathy 1	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Difficulty walking, Weight loss	OMIM:164310
Sweet Syndrome	Neutrophilia, Leukocytosis, Sterile abscess, Chronic lymphatic leukemia, Anemia, Acute myeloid le...	ORPHA:3243
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Abscess, Neutrophilia, Splenomegaly	OMIM:612852
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Dpagt1-Cdg	Akinesia, Ataxia, Inability to walk	ORPHA:86309
Hyper-Igd Syndrome	Hepatosplenomegaly, Neutrophilia, Leukocytosis, Splenomegaly	OMIM:260920
Familial Mediterranean Fever	Neutrophilia, Leukocytosis, Splenomegaly	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.

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

Title	Journal	IMPC Allele	PubMed ID
Regulation of positive and negative selection and TCR signaling during thymic T cell development by capicua.	eLife (December 2021)	Spry4^{tm1a(KOMP)Mbp}	PMC8700290

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MGI Allele	Allele Type	Produced
Spr^em1(IMPC)H	Inter-exon deletion	Mice
Spr^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Spr^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

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