Gene Summary

Name:
sepiapterin reductase
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased neutrophil cell number Sprem1(IMPC)H HET Early adult 1.67×10-07
increased grip strength Sprem1(IMPC)H HET Early adult 9.54×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

MicroCT E18.5

Embryo reconstruction

4 Images

MicroCT E14.5-E15.5

Embryo reconstruction

5 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
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 Similarity of
phenotypes
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) Spry4tm1a(KOMP)Mbp PMC8700290

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

MGI Allele Allele Type Produced
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