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Gene: Dnase2b MGI:1913283

Gene Summary

Name:

deoxyribonuclease II beta

Synonyms:

Dlad, DnaseIIb

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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	Allele	Zyg	Life Stage	P Value
tremors	Dnase2b^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	6.63×10^-05
increased circulating HDL cholesterol level	Dnase2b^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	1.86×10^-05
increased mean corpuscular hemoglobin concentration	Dnase2b^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	1.84×10^-05
abnormal behavior	Dnase2b^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	1.66×10^-05
increased thermal nociceptive threshold	Dnase2b^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	1.76×10^-05

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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.

Phenotype associated images not available

Human diseases caused by Dnase2b 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 Dnase2b (0 diseases)
Human diseases predicted to be associated with Dnase2b (562 diseases)

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

The table below shows human diseases predicted to be associated to Dnase2b by phenotypic similarity.

Disease	Matching phenotypes	Source
Cataract 44	Visual loss, Developmental cataract	OMIM:616509
Cataract 7	Visual loss, Mildly reduced visual acuity, Developmental cataract	OMIM:115660
Cataract 12, Multiple Types	Myopia, Progressive cataract, Developmental cataract	OMIM:611597
Cataract 42	Myopia, Cataract, Developmental cataract	OMIM:115900
Corneal Dystrophy, Avellino Type	Lattice corneal dystrophy, Reduced visual acuity, Visual impairment	OMIM:607541
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Foveal Hypoplasia 1	Presenile cataracts, Visual impairment	OMIM:136520
Foveal Hypoplasia-Presenile Cataract Syndrome	Abnormality of vision, Cataract	ORPHA:2253
X-Linked Retinoschisis	Abnormality of vision, Cataract	ORPHA:792
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Cataract-Microcornea Syndrome	Myopia, Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Achromatopsia 3	Cataract, Moderately reduced visual acuity, Monochromacy, High myopia, Photophobia, Dyschromatops...	OMIM:262300
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:619491
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Myopia, Corneal dystrophy, Developmental cataract	OMIM:271320
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Cataract 9, Multiple Types	Progressive cataract, Cataract, Amblyopia, Developmental cataract, Microcornea, Iris coloboma, Vi...	OMIM:604219
Corneal Dystrophy, Lattice Type Iiia	Corneal erosion, Reduced visual acuity, Visual impairment, Lattice corneal dystrophy	OMIM:608471
Corneal Dystrophy, Gelatinous Drop-Like	Corneal dystrophy, Reduced visual acuity, Photophobia, Visual impairment, Blurred vision	OMIM:204870
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Optic Atrophy 3, Autosomal Dominant	Reduced visual acuity, Cataract, Scotoma	OMIM:165300
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Optic Atrophy 5	Constriction of peripheral visual field, Central scotoma, Abnormality of pattern visual evoked po...	OMIM:610708
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Cataract 8, Multiple Types	Nuclear cataract, Progressive visual loss, Developmental cataract	OMIM:115665
Leber Congenital Amaurosis 16	Cataract, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual impairment	OMIM:614186
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Cataract 11, Multiple Types	Blindness, Cataract, Developmental cataract	OMIM:610623
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Cataract 17, Multiple Types	Amblyopia, Reduced visual acuity, Pulverulent cataract, Developmental cataract, Microcornea, Nucl...	OMIM:611544
Trichomegaly	Cataract	OMIM:190330
Cataract 2, Multiple Types	Amblyopia, Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Photophobia...	OMIM:604307
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Myopia 17, Autosomal Dominant	Presenile cataracts, High myopia	OMIM:608367
Dysequilibrium Syndrome	Abnormality of vision, Cataract	ORPHA:1766
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ...	OMIM:614561
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Familial Pterygium Of The Conjunctiva	Abnormality of vision, Opacification of the corneal stroma	ORPHA:2989
Glaucoma 3, Primary Congenital, D	Photophobia, Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Leber Congenital Amaurosis 7	Photophobia, Keratoconus, Cataract, Visual impairment	OMIM:613829
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Photophobia, High hypermetropia, Severely reduced visual acuity	OMIM:613826
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul...	ORPHA:309169
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Reduced visual acuity, I...	OMIM:309300
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
X-Linked Corneal Dermoid	Visual loss, Abnormal pupil morphology, Corneal opacity, Visual impairment	ORPHA:1661
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Nathalie Syndrome	Cataract	ORPHA:2663
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract, Reduced visual acuity	OMIM:619082
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus	OMIM:611092
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Mildly reduced visual acuity, Vitreous floaters, High myopia, Lens subluxation	OMIM:614292
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Aniridia 2	Cataract, Amblyopia, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Cataract 48	Cataract, Reduced visual acuity, Amblyopia	OMIM:618415
Myopia 28, Autosomal Recessive	Cataract, High myopia	OMIM:619781
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Usher Syndrome Type 3	Cataract, Scotoma, Visual loss, Nyctalopia, Hemianopia, Astigmatism, High hypermetropia, Iris hyp...	ORPHA:231183
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Retinitis Pigmentosa 2	Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Cataract, Cen...	OMIM:312600
Spastic Paraparesis-Deafness Syndrome	Cataract, Visual impairment	ORPHA:2815
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Myopia, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane,...	ORPHA:1067
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Visual impairment, Developmental cataract	OMIM:246000
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Galactosemia Iv	Cataract	OMIM:618881
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract, Visual impairment	OMIM:121390
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia,...	OMIM:615924
Retinitis Pigmentosa 4	Blindness, Cataract, Nyctalopia, Reduced visual acuity, Visual field defect	OMIM:613731
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Pellagra-Like Syndrome	Diplopia, Cataract	OMIM:260650
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, High myopia, Iris transillumination defect, Ectopia pupillae, Persisten...	OMIM:225200
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia	OMIM:615945
Retinitis Pigmentosa 40	Nyctalopia, Cataract	OMIM:613801
Aniridia 3	Aniridia, Cataract, Reduced visual acuity	OMIM:617142
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Chromosome 16Q12 Duplication Syndrome	Cataract, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Paracentral scotoma, Aniso...	OMIM:619649
Edict Syndrome	Keratoconus, Reduced visual acuity, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior po...	OMIM:614303
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Spinal Muscular Atrophy, Jokela Type	Tremor, Elevated circulating creatine kinase concentration, Fasciculations	OMIM:615048
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc...	OMIM:612126
Wagner Vitreoretinopathy	Visual loss, Myopia, Cataract, Visual field defect	OMIM:143200
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Clonus, Babinski sign, Hypochromic microcytic anemia, Dysmetria, Dysdiadoch...	OMIM:301310
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Reduced visual acuity, Microcornea, Buphthalmos, Anterio...	OMIM:269400
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Retinitis Pigmentosa 9	Nyctalopia, Constriction of peripheral visual field, Cataract	OMIM:180104
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, High myopia, Microcornea, Cortical pulverulent cataract, Pete...	OMIM:610202
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Nyctalopia, Cataract, Reduced visual acuity	OMIM:610156
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Isolated Aniridia	Aniridia, Visual loss, Cataract, Peters anomaly	ORPHA:250923
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,...	ORPHA:521406
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Frequent falls, Hemiballismus	ORPHA:494526
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Galactosemia Ii	Cataract	OMIM:230200
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Usher Syndrome Type 1	Cataract, Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia, Iris hypopigmentation	ORPHA:231169
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Cataract 24	Anterior polar cataract, Amblyopia	OMIM:601202
Stickler Syndrome Type 2	Myopia, Cataract, Corneal opacity	ORPHA:90654
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal guttata, Corneal dystrophy, Visual impairment	OMIM:613268
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Spinocerebellar Ataxia Type 38	Tremor, Gait ataxia	ORPHA:423296
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Morm Syndrome	Photophobia, Progressive night blindness, Cataract, Visual impairment	ORPHA:75858
Cone-Rod Dystrophy 16	Cataract, Nyctalopia, Reduced visual acuity, Photophobia, Progressive visual loss	OMIM:614500
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Blurred vision, Reduced vis...	ORPHA:98963
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Leber Congenital Amaurosis 2	Keratoconus, Blindness, Cataract, Nyctalopia, Reduced visual acuity, Photophobia	OMIM:204100
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb...	ORPHA:216873
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Optic Atrophy 8	Visual loss, Central scotoma, Abnormality of pattern visual evoked potentials, Visual impairment	OMIM:616648
Migraine, Familial Hemiplegic, 1	Tremor, Hemiplegia, Ataxia, Hemiparesis	OMIM:141500
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra...	OMIM:213600
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Cataract 47	Microcornea, Cataract	OMIM:612018
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal guttata, Corneal opacity, Visual impairment	OMIM:613267
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei...	ORPHA:64753
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor...	ORPHA:98762
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Cataract 40	Severely reduced visual acuity, Nuclear cataract, Sutural cataract	OMIM:302200
Cataract 6, Multiple Types	Posterior polar cataract, Myopia, Developmental cataract	OMIM:116600
Primary Non-Essential Cutis Verticis Gyrata	Abnormality of pattern visual evoked potentials, Reduced visual acuity, Developmental cataract	ORPHA:357225
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism...	ORPHA:314632
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopia, Cataract, Corneal dystrophy	ORPHA:1369
Absence Deformity Of Leg-Cataract Syndrome	Cataract, Visual impairment	ORPHA:2310
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia	OMIM:261630
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Retinitis Pigmentosa 66	Constriction of peripheral visual field, Central scotoma, Nyctalopia, Posterior subcapsular catar...	OMIM:615233
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
Microphthalmia, Isolated 5	Cataract, Nyctalopia, Reduced visual acuity, Photophobia, High hypermetropia	OMIM:611040
X-Linked Endothelial Corneal Dystrophy	Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology, Reduced visual acuity...	ORPHA:293621
Intellectual Developmental Disorder And Retinitis Pigmentosa	Posterior subcapsular cataract, Abnormal flash visual evoked potentials, Nyctalopia, Reduced visu...	OMIM:618195
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Constriction of peripheral visual field, Cataract, Progressive visual loss, Pr...	ORPHA:414
Congenital Microcoria	Blindness, Axial myopia, Iris hypopigmentation, Nyctalopia, Developmental cataract, Photophobia, ...	ORPHA:566
Retinitis Pigmentosa 84	Nyctalopia, Cataract, Visual acuity no light perception	OMIM:618220
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia	OMIM:605909
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B...	ORPHA:240103
Retinitis Pigmentosa 37	Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Posterior subcaps...	OMIM:611131
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Stargardt Disease	Central scotoma, Nyctalopia, Reduced visual acuity, Abnormality of visual evoked potentials, Colo...	ORPHA:827
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp...	ORPHA:251282
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Limb ataxia...	OMIM:208920
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Reduced visual acuity, Microcornea, Posterior synechiae ...	OMIM:610256
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S...	OMIM:612716
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Reduced visual acuity, Microcornea, Hypo...	ORPHA:2334
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria	ORPHA:363710
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Amblyopia, Ectopia pupillae, Visual impairment	ORPHA:1885
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Dystonia 12	Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia	OMIM:128235
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se...	OMIM:612736
Ataxia-Oculomotor Apraxia 4	Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Tetraplegi...	OMIM:616267
Leber Congenital Amaurosis 1	Keratoconus, Blindness, Cataract, Nyctalopia, Reduced visual acuity, Photophobia	OMIM:204000
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Myoclonus, Dystonia	OMIM:619651
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	High hypermetropia, Cataract	ORPHA:1373
Nathalie Syndrome	Cataract	OMIM:255990
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Posterior synechiae of the anterior chamber, Reduced visual acuity, Developmental ...	OMIM:616722
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Increased circulat...	OMIM:614307
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:600363
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Blindness-Scoliosis-Arachnodactyly Syndrome	Blindness, Cataract, Visual loss, Lens subluxation, Microphakia	ORPHA:171844
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo...	OMIM:606159
Oculocutaneous Albinism Type 1	Amblyopia, Blue irides, Reduced visual acuity, Photophobia, Iris transillumination defect, Abnorm...	ORPHA:352731
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:615362
Cataract 16, Multiple Types	Posterior polar cataract, Developmental cataract, Lenticonus, High myopia	OMIM:613763
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi...	OMIM:613280
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci...	OMIM:617916
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Fasciculations...	ORPHA:276435
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Rigidity, Splenomegaly, Tremor, Dystonia, Thrombocytopenia	OMIM:615010
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Spastic dysarthria, Hypercholesterolemia, Hypoalbuminemia, Ataxia	ORPHA:94124
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Posterior embryotoxon, Iris coloboma, Visual impairment	ORPHA:1473
Birdshot Chorioretinopathy	Arcuate scotoma, Cataract, Blind-spot enlargment, Vitreous floaters, Visual loss, Photophobia, Bl...	ORPHA:179
X-Linked Immunoneurologic Disorder	Nyctalopia, Cataract	ORPHA:2571
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu...	OMIM:602124
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor	OMIM:620158
Uveal Melanoma	Metamorphopsia, Photopsia, Iris melanoma, Visual loss, Inferior lens subluxation, Zonular catarac...	ORPHA:39044
Idiopathic Panuveitis	Blindness, Cataract, Vitreous floaters, Reduced visual acuity, Abnormality of vision, Photophobia...	ORPHA:280921
Peroxisome Biogenesis Disorder 11B	Visual loss, Cataract	OMIM:614885
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Vitreous floaters, Reduced visual ac...	ORPHA:263479
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Clumsiness	ORPHA:488650
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Hypertonia, Methemoglobinemia, Polycythemia, Opisthotonus	OMIM:250800
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Ataxia, Dysmetria	OMIM:617917
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,...	OMIM:617145
Leber Congenital Amaurosis 8	Keratoconus, High hypermetropia, Cataract, Reduced visual acuity	OMIM:613835
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Reduced visual acuity, Developmental cataract, Microcornea, Hypopla...	OMIM:604229
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Weill-Marchesani Syndrome	Visual loss, Ectopia lentis, Cataract, High myopia	ORPHA:3449
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Epilepsy, Progressive Myoclonic, 6	Tremor, Ataxia, Elevated circulating creatine kinase concentration, Myoclonus	OMIM:614018
Hereditary Methemoglobinemia	Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity, Methemoglobinemia	ORPHA:621
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia	OMIM:618387
Crigler-Najjar Syndrome Type 1	Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia, Ataxia	OMIM:607250
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El...	OMIM:210250
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Dysmetria, Clumsiness, Increased LDL cholesterol concentration, Xan...	OMIM:277460
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Saccharopinuria	Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abnormality of circulatin...	ORPHA:3124
Stickler Syndrome, Type V	Cataract, High myopia	OMIM:614284
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormality of visual evoked potentials, Cerebral visual impairment	ORPHA:1389
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Hype...	OMIM:261640
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia	OMIM:618049
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Senior-Loken Syndrome	Cataract, Progressive visual loss, Visual impairment	ORPHA:3156
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Constriction of peripheral visual field, Undetectable visual evoked potentials, Progressive visua...	ORPHA:436245
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity	OMIM:213200
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Retinitis Pigmentosa 60	Constriction of peripheral visual field, Nyctalopia, Posterior subcapsular cataract, Reduced visu...	OMIM:613983
Hyperphenylalaninemia, Bh4-Deficient, B	Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb ...	OMIM:233910
Coloboma, Ocular, Autosomal Recessive	Lens subluxation, Cataract, Iris coloboma, Reduced visual acuity	OMIM:216820
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi...	OMIM:615157
Canavan Disease	Abnormality of visual evoked potentials, Blindness, Visual impairment	ORPHA:141
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus	OMIM:619028
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic...	ORPHA:79263
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Elevated circulating creatine kinas...	OMIM:612953
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys...	ORPHA:254881
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Glycogen Storage Disease Ixa1	Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia	OMIM:306000
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia	ORPHA:306669
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me...	ORPHA:240085
Usher Syndrome Type 2	Myopia, Cataract, Scotoma, Visual loss, Nyctalopia, Hemianopia, Iris hypopigmentation	ORPHA:231178
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys...	OMIM:619405
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Hypermanganesemia With Dystonia 2	Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Park...	OMIM:617013
Congenital Disorder Of Glycosylation, Type Iio	Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra...	OMIM:616828
Morning Glory Disc Anomaly	Cataract, Amblyopia	ORPHA:35737
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin...	OMIM:618877
Chromosome Xp11.3 Deletion Syndrome	Moderate myopia, Constriction of peripheral visual field, Blindness, Cataract, Nyctalopia, Poster...	OMIM:300578
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir...	ORPHA:713
Leber Congenital Amaurosis	Keratoconus, Severely reduced visual acuity, Cataract	ORPHA:65
Spinocerebellar Ataxia, Autosomal Recessive 21	Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls	OMIM:616719
Aceruloplasminemia	Refractory anemia, Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circ...	ORPHA:48818
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract, Visual impairment	ORPHA:1366
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th...	ORPHA:848
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Cystathioninuria	Cystathioninemia, Tremor	ORPHA:212
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Cholesteryl Ester Storage Disease	Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia	ORPHA:75234
Stiff Skin Syndrome	Myopia, Cataract	OMIM:184900
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Cataract 49	Posterior cortical cataract, Reduced visual acuity	OMIM:619593
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia	ORPHA:70594
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Peroxisome Biogenesis Disorder 9B	Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Cataract	OMIM:614879
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait atax...	ORPHA:363400
Exudative Vitreoretinopathy 6	Myopia, Cataract, Reduced visual acuity, Nuclear cataract, Progressive visual loss, Cortical cata...	OMIM:616468
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Ataxia, Elevated circulating creatine kinase concentration, C...	OMIM:615673
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Astigmatism, Amblyopia	OMIM:617523
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Elevated circulating creatine kinase concentration, Fasciculations	OMIM:313200
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Oculocutaneous Albinism Type 1A	Ocular albinism, Photophobia, Abnormality of visual evoked potentials, Visual impairment, Iris hy...	ORPHA:79431
Mohr-Tranebjaerg Syndrome	Cerebral visual impairment, Visual loss, Central scotoma, Photophobia, Abnormality of visual evok...	ORPHA:52368
Nance-Horan Syndrome	Microcornea, Visual loss, Cataract, Visual impairment	ORPHA:627
Cog4-Cdg	Ataxia, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Limb hypertonia	ORPHA:263501
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait	OMIM:616795
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:1170
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Cataract 41	Nuclear cataract	OMIM:116400
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,...	ORPHA:101
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Enhanced S-Cone Syndrome	Hemeralopia, Nyctalopia, Cataract	OMIM:268100
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Norrie Disease	Blindness, Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow an...	OMIM:310600
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Dysmetria	OMIM:615578
Autosomal Dominant Optic Atrophy Plus Syndrome	Abnormality of visual evoked potentials, Constriction of peripheral visual field, Progressive vis...	ORPHA:1215
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Myopia, Cerebral visual impairment, Hypermetropia, Astigmatism, Abnormality of visual evoked pote...	OMIM:616875
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph...	OMIM:128100
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Late Infantile Neuronal Ceroid Lipofuscinosis	Myopia, Blindness, Visual loss, Abnormal amplitude of flash visual evoked potentials, Reduced vis...	ORPHA:168491
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Abnormality of visual evoked potentials, Central scotoma, Color vision defect, Slow decrease in v...	OMIM:601152
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Poor fine motor coordination, Hypercholesterolemia	ORPHA:254531
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen...	OMIM:278000
Ectodermal Dysplasia-Blindness Syndrome	Blindness, Cataract, Corneal dystrophy, Sclerocornea, Abnormality of vision, Microcornea, Keratoc...	ORPHA:1806
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia, Action tremor	ORPHA:77296
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Abnormality of visual evoked potentials, Visual impairment	ORPHA:1933
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Visual loss, Reduced visual acuity, Anterior chamber synechiae	ORPHA:85410
Spinocerebellar Ataxia Type 27	Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia	ORPHA:98764
Autosomal Dominant Optic Atrophy And Cataract	Blindness, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Anterior cortica...	ORPHA:67036
Persistent Hyperplastic Primary Vitreous	Blindness, Cataract, Corneal opacity, Amblyopia, Reduced visual acuity, Leukocoria, Developmental...	ORPHA:91495
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Moderate myopia, Cataract, Ectopia lentis, Reduced visual acuity, Spherophakia, Hig...	OMIM:601552
Galactokinase Deficiency	Speech apraxia, Hepatosplenomegaly, Increased level of galactitol in plasma, Hypergalactosemia, H...	ORPHA:79237
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia	OMIM:618060
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy...	ORPHA:1578
Usher Syndrome	Myopia, Blindness, Cataract, Nyctalopia, Visual field defect, Astigmatism, Progressive visual los...	ORPHA:886
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism	ORPHA:178509
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Alport Syndrome 2, Autosomal Recessive	Myopia, Corneal erosion, Cataract, Anterior lenticonus	OMIM:203780
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	OMIM:300894
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Photophobia, Abnormality of visual evoked potentials, High myopia	OMIM:614457
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Clonus, Spastic tetraparesis, Babinski sign, Elevated amniotic fluid alpha-fetoprotein, HbH hemog...	ORPHA:423479
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Abnormality of visual evoked potentials, Myopia, Astigmatism, Cerebral visual impairment	ORPHA:480898
Peroxisomal Acyl-Coa Oxidase Deficiency	Abnormality of visual evoked potentials, Myopia	ORPHA:2971
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype...	ORPHA:247585
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp...	OMIM:614381
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe...	ORPHA:240071
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Ifap Syndrome 2	Photophobia, Keratoconjunctivitis sicca, Cataract, Keratitis	OMIM:619016
Friedreich Ataxia	Abnormality of visual evoked potentials, Reduced visual acuity, Visual impairment, Visual field d...	OMIM:229300
Autoimmune Polyendocrinopathy Type 1	Photophobia, Opacification of the corneal stroma, Cataract, Visual impairment	ORPHA:3453
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Tremor, Schistocytosis, Elevated circulating creatinine concentration, Microangi...	OMIM:274150
Neurodegeneration With Brain Iron Accumulation 2A	Abnormality of visual evoked potentials, Visual loss	OMIM:256600
Late-Infantile/Juvenile Krabbe Disease	Abnormality of visual evoked potentials, Visual loss, Blindness, Visual impairment	ORPHA:206443
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T...	OMIM:614298
Hermansky-Pudlak Syndrome	Myopia, Cataract, Amblyopia, Ocular albinism, Photophobia, Astigmatism, Abnormality of visual evo...	ORPHA:79430
Charcot-Marie-Tooth Disease, Type 4D	Abnormality of visual evoked potentials, Myopia	OMIM:601455
Developmental And Epileptic Encephalopathy 3	Abnormality of visual evoked potentials	OMIM:609304
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:168600
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim...	OMIM:618056
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	OMIM:606002
Migraine, Familial Hemiplegic, 2	Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Autosomal Recessive Spastic Paraplegia Type 44	Abnormality of visual evoked potentials	ORPHA:320401
Mepan Syndrome	Abnormality of visual evoked potentials, Reduced visual acuity	ORPHA:508093
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Hypokalemia, Periodic paralysis	OMIM:613239
O'Sullivan-Mcleod Syndrome	Tremor, Eosinophilia, Fasciculations	ORPHA:99965
Micro Syndrome	Microcornea, Abnormality of visual evoked potentials, Cataract, Cerebral visual impairment	ORPHA:2510
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Limb ataxia, Truncal ataxia	OMIM:617101
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Intermediate Uveitis	Cataract, Band keratopathy, Vitreous floaters, Reduced visual acuity, Posterior synechiae of the ...	ORPHA:279914
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia	ORPHA:240094
Cln5 Disease	Abnormality of visual evoked potentials, Visual impairment	ORPHA:228360
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Poor fine motor coordination, Hypercholesterolemia	ORPHA:96184
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Abnormality of visual evoked potentials, Visual loss	OMIM:125310
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Adult-Onset Autosomal Dominant Leukodystrophy	Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign...	ORPHA:99027
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Pelizaeus-Merzbacher Disease	Abnormality of visual evoked potentials, Visual impairment	ORPHA:702
Oculoauricular Syndrome	Cataract, Ultra-low vision with retained light perception, Sclerocornea, Developmental cataract, ...	OMIM:612109
Ataxia-Telangiectasia	Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Slurred speech, Acute lymph...	OMIM:208900
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Normochromic anemia...	OMIM:615512
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:615530
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro...	ORPHA:90041
Lead Poisoning	Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Poor gross motor coordi...	ORPHA:330015
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
White-Sutton Syndrome	Myopia, Mild myopia, Hypermetropia, Astigmatism, Abnormality of visual evoked potentials, Iris co...	OMIM:616364
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Tremor, Hyperammonemia, Anemia, Hyperglycinemia, Neutropeni...	OMIM:251100
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en...	ORPHA:264580
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormality of visual evoked potentials, Visual impairment	ORPHA:485421
Neuhauser Syndrome	Hypercholesterolemia, Poor coordination, Ataxia	OMIM:249310
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level	ORPHA:528
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperchol...	ORPHA:79240
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Babinski sign, Abnormal p...	OMIM:234200
Infantile Neuroaxonal Dystrophy	Abnormality of visual evoked potentials, Blindness	ORPHA:35069
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	ORPHA:412
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Steatorrhea, Persistence of hemoglobin F, Anemia, Neutropen...	OMIM:260400
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Mandibuloacral Dysplasia	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level	ORPHA:2457
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Infantile Krabbe Disease	Photophobia, Visual loss, Blindness, Abnormality of visual evoked potentials	ORPHA:206436
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia, Ataxia	ORPHA:2479
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Leukocytosis	ORPHA:90065
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes...	ORPHA:275761
Xq12-Q13.3 Duplication Syndrome	Abnormality of visual evoked potentials	ORPHA:314389
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le...	OMIM:300972
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria, Abnormality of visual evoked potentials	OMIM:231550
Metachromatic Leukodystrophy, Late Infantile Form	Abnormality of visual evoked potentials, Reduced visual acuity	ORPHA:309256
Ruvalcaba Syndrome	Abnormality of visual evoked potentials	ORPHA:3121
Metachromatic Leukodystrophy, Juvenile Form	Abnormality of visual evoked potentials, Reduced visual acuity	ORPHA:309263
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Sympathetic Ophthalmia	Cataract, Vitreous floaters, Reduced visual acuity, Photophobia, Anterior chamber cells, Posterio...	ORPHA:79098
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Spastic paraplegia, Abnormal hemoglobin, Anemia	ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Spasticity, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Clum...	ORPHA:90674
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hyperchole...	ORPHA:79259
Metachromatic Leukodystrophy, Adult Form	Abnormality of visual evoked potentials, Reduced visual acuity	ORPHA:309271
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia	ORPHA:69663
Cockayne Syndrome B	Hypermetropia, Developmental cataract, Microcornea, Hypoplasia of the iris, Opacification of the ...	OMIM:133540
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Clonus, Thrombocytopenia, Hypokalemia, Hyperaldosteronism, Hypophosp...	ORPHA:534
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia	OMIM:248370
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:151660
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Clonus, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Hypercho...	OMIM:606721
Cockayne Syndrome A	Abnormality of visual evoked potentials, Opacification of the corneal stroma, Cataract, Hypermetr...	OMIM:216400
Metachromatic Leukodystrophy	Abnormality of visual evoked potentials, Visual impairment	ORPHA:512
Mogs-Cdg	Abnormality of visual evoked potentials	ORPHA:79330
Cerebrotendinous Xanthomatosis	Abnormality of visual evoked potentials, Juvenile cataract, Visual impairment	ORPHA:909
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Abnormality of visual evoked potentials, Visual loss, Cerebral visual impairment	OMIM:203700
Bardet-Biedl Syndrome 20	Hypercholesterolemia	OMIM:619471
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of visual evoked potentials	ORPHA:258
Autosomal Recessive Malignant Osteopetrosis	Abnormality of visual evoked potentials, Visual impairment	ORPHA:667
Alagille Syndrome 1	Hypercholesterolemia, Hypertriglyceridemia	OMIM:118450
Steinert Myotonic Dystrophy	Poor fine motor coordination, Hypercholesterolemia	ORPHA:273
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi...	OMIM:309000
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:619534
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665

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 Dnase2b

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 Dnase2b.

No publications found that use IMPC mice or data for Dnase2b.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Dnase2b^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Dnase2b^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Dnase2b^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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