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Gene: Ctns MGI:1932872

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

cystinosis, nephropathic

Synonyms:

N/A

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.

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 Ctns 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 Ctns (6 diseases)
Human diseases predicted to be associated with Ctns (595 diseases)

The table below shows human diseases associated to Ctns by orthology or direct annotation.

Disease	Matching phenotypes	Source
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling, Rickets, Corneal crystals	OMIM:219900
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Abnormal retinal morphology, Corneal crystals	OMIM:219750
Infantile Nephropathic Cystinosis	Rickets, Pigmentary retinopathy, Abnormal cornea morphology, Aminoaciduria, Corneal crystals, Pol...	ORPHA:411629
Cystinosis, Nephropathic	Skeletal muscle atrophy, Hypopigmentation of hair, Retinopathy, Oral-pharyngeal dysphagia, Retina...	OMIM:219800
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Juvenile Nephropathic Cystinosis	Elevated circulating creatinine concentration, Abnormal cornea morphology, Aminoaciduria, Corneal...	ORPHA:411634

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

Disease	Matching phenotypes	Source
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling, Rickets, Corneal crystals	OMIM:219900
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Abnormal retinal morphology, Corneal crystals	OMIM:219750
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero...	OMIM:217800
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation, Ataxia, Myopathy	ORPHA:2579
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Ataxia, Gait disturbance	ORPHA:1178
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased mitochondrial number, Multiple joint contractures, Limb-girdle muscle weakness, Depress...	ORPHA:352470
Infantile Nephropathic Cystinosis	Rickets, Pigmentary retinopathy, Abnormal cornea morphology, Aminoaciduria, Corneal crystals, Pol...	ORPHA:411629
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals	OMIM:210370
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma	OMIM:148200
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria	OMIM:236130
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Ataxia, Retinal dystrophy, Abnormality of bone min...	ORPHA:3156
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Brachyolmia Type 1, Toledo Type	Gait disturbance, Precocious costochondral ossification, Opacification of the corneal stroma	OMIM:271630
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers...	ORPHA:457050
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract, Tendon xanthomatosis	OMIM:618463
Neuropathy, Ataxia, And Retinitis Pigmentosa	Ataxia, Retinal pigment epithelial mottling, Myopathy, Rod-cone dystrophy, Retinopathy	OMIM:551500
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Cystinosis, Nephropathic	Skeletal muscle atrophy, Hypopigmentation of hair, Retinopathy, Oral-pharyngeal dysphagia, Retina...	OMIM:219800
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Increased variability in muscle fiber diamet...	OMIM:619473
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Spastic Paraplegia Type 7	Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Abnormal mitochondrial morphology, Up...	ORPHA:99013
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Narp Syndrome	Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ir...	ORPHA:644
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninur...	OMIM:204000
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Decreased 3-hydroxyacyl-CoA dehydrogenase level, Pigmentary retinopathy	OMIM:609016
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Ataxia	ORPHA:2246
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Hsd10 Mitochondrial Disease	Restlessness, Aggressive behavior, Optic atrophy, Abnormal mitochondrial morphology, Choreoatheto...	OMIM:300438
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia	OMIM:610951
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c...	OMIM:613731
Blue Cone Monochromatism	Abnormality of retinal pigmentation, Corneal dystrophy	ORPHA:16
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy...	OMIM:310600
Spinocerebellar Ataxia, Autosomal Recessive 29	Inability to walk, Ataxia, Optic disc pallor, Retinal pigment epithelial mottling	OMIM:619389
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Facial palsy	ORPHA:3416
Recessive X-Linked Ichthyosis	Cryptorchidism, Attention deficit hyperactivity disorder, Opacification of the corneal stroma	ORPHA:461
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy...	ORPHA:2334
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	OMIM:251270
Intellectual Developmental Disorder And Retinitis Pigmentosa	Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti...	OMIM:618195
Mucolipidosis Iv	Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ataxia, Flexion contracture, Optic atrophy, Ragged-red muscle fibers, Decreased activity of mitoc...	OMIM:252011
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Retinitis Pigmentosa 40	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo...	OMIM:613801
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, Optic atrophy, Abnormal ...	ORPHA:3152
Spinocerebellar Ataxia 7	Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular degeneration, Pigmentary retinop...	OMIM:164500
Oliver-Mcfarlane Syndrome	Central heterochromia, Cryptorchidism, Pigmentary retinopathy, Distal amyotrophy, Retinal degener...	OMIM:275400
Mitochondrial Complex I Deficiency, Nuclear Type 11	Decreased activity of mitochondrial complex I, Pigmentary retinopathy, Osteoporosis, Myopathy	OMIM:618234
Cln3 Disease	Cataract, Ataxia, Bull's eye maculopathy, Aggressive behavior, Optic atrophy, Depression, Bradyki...	ORPHA:228346
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Clavicular sclerosis, Abnorm...	ORPHA:2790
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Ataxia, Depression, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Congenital Muscular Dystrophy With Intellectual Disability	Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl...	ORPHA:370968
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Joint stiffness, Optic at...	ORPHA:1466
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation, Ragged-red muscle fibers, Ataxia, Skeletal muscle atrophy	ORPHA:480
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis, Difficulty walking	ORPHA:564003
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Ataxia, Opacification of the corneal stroma	OMIM:230650
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Irritability, Pigmentary retinopathy, Dysphagia, Rod-cone dystrophy	OMIM:264470
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Pigmentary retinopathy, Gait imbalance, Dysphagia, Loss of ambulation, W...	ORPHA:329336
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia	ORPHA:3177
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Winchester Syndrome	Osteolysis involving tarsal bones, Corneal opacity, Generalized osteoporosis, Carpal osteolysis	OMIM:277950
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Waddling gait, Pigmentary retinopathy	OMIM:619090
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Increased level of L-pyroglutamic acid in urine, Ataxia	OMIM:266130
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Ataxia, Craniosynostosis, Depression, Self-injurious behavior, Opacification of th...	OMIM:601853
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Juvenile Nephropathic Cystinosis	Elevated circulating creatinine concentration, Abnormal cornea morphology, Aminoaciduria, Corneal...	ORPHA:411634
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Osteomyelitis, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacificat...	OMIM:256800
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ...	OMIM:616108
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Posterior Column Ataxia With Retinitis Pigmentosa	Skeletal muscle atrophy, Flexion contracture of finger, Cataract, Ataxia, Broad-based gait, Bone ...	OMIM:609033
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Joint stiffness, Corneal eros...	ORPHA:816
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Pigmentary retinopathy, Aminoa...	OMIM:214110
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy, Astigmatism	OMIM:268060
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Skeletal muscle atrophy, Ataxia, Dysmetria, Dysdiadochokines...	ORPHA:96
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o...	OMIM:600059
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com...	OMIM:618378
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Decreased muscle mass, Limited wrist extension,...	OMIM:108145
Ichthyosis, X-Linked	Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism	OMIM:308100
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Autosomal Recessive Spastic Paraplegia Type 15	Upper limb muscle weakness, Pigmentary retinopathy, Pseudobulbar paralysis, Retinal flecks, Yello...	ORPHA:100996
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Inability to walk, Cryptorchidism, Flexion contracture, Skeletal muscle hypertrophy...	OMIM:613156
Juvenile Paget Disease	Abnormality of retinal pigmentation, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Opt...	ORPHA:2801
Frontotemporal Dementia With Motor Neuron Disease	Abnormal mitochondrial morphology, Depression, Progressive cerebellar ataxia, Disinhibition, Gene...	ORPHA:275872
Canavan Disease	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Flexion contracture...	ORPHA:141
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Cryptorchidism, Ataxia, Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Ck Syndrome	Hyperactivity, Aggressive behavior, Irritability, Abnormal cortical bone morphology, Joint hyperm...	OMIM:300831
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Ramon Syndrome	Abnormality of retinal pigmentation, Abnormal anterior chamber morphology, Osteolysis	ORPHA:3019
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Inability to walk, Increased susceptibility to fractures, Pigmentary retinopat...	ORPHA:216866
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Corneal opacity, Ataxia, Aplasia/Hypoplasia of the abdominal...	ORPHA:578
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Ataxia, Knee flexion contracture, Irritability, Pigmentary retinopathy, ...	ORPHA:3208
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Pantothenate Kinase-Associated Neurodegeneration	Osteopenia, Toe extensor amyotrophy, Bull's eye maculopathy, Impulsivity, Fractures of the long b...	ORPHA:157850
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Hereditary Sensory And Autonomic Neuropathy Type 2	Skeletal muscle atrophy, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal ...	ORPHA:970
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit...	OMIM:500013
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Joint hyperflexibility, Heterochromia iridis, Abnormality o...	ORPHA:1390
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I...	ORPHA:3077
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Bornholm Eye Disease	Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia	OMIM:300843
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Astigmatism, Polydipsia, Rod-cone dystrophy, P...	OMIM:615986
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Bradykinesia, Increased mitochondrial number, Decreased activity of mitochondrial complex IV	OMIM:619063
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Corneal arcus	OMIM:620058
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Joubert Syndrome 28	Joint laxity, Optic disc pallor, Ataxia, Pigmentary retinopathy	OMIM:617121
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Keratoconus Posticus Circumscriptus	Keratoconus, Limited elbow extension and supination, Central posterior corneal opacity, Abnormal ...	OMIM:244600
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Depression, Pigmentary retinopathy, Dysphagia, Loss of ambulation, Emotional l...	ORPHA:79264
Mucopolysaccharidosis Type 3	Flexion contracture, Reduced bone mineral density, Loss of ambulation, Retinal degeneration, Hype...	ORPHA:581
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Arthritis, Myopathy, Dysphagia, Increased variability in mu...	ORPHA:397744
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Peripheral opacification of the cornea, Corneal opacity, Interphalan...	OMIM:259600
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Waddling gait, Retinal detachment, Corneal opacity, Osteoporosis, Abnor...	ORPHA:2788
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Cataract, Brushfield spots, Cryptorchidism, Unsteady gait, Epiphyseal stipplin...	OMIM:214100
Familial Expansile Osteolysis	Hydroxyprolinuria, Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Generalized bone demineralization, Opacification of the corneal stroma	OMIM:215250
Barth Syndrome	Abnormal mitochondrial morphology	ORPHA:111
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal cortical bone morphology	ORPHA:1802
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Unsteady gait, Retinal degeneration	OMIM:520000
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Generalized joint laxity, Increased variability in muscle fiber diameter, Dysm...	ORPHA:502423
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Pigmentary retinopathy, Axenfeld anomaly, Opacification of the corneal stroma, Pete...	OMIM:612582
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Proteus Syndrome	Mandibular hyperostosis, Depigmentation/hyperpigmentation of skin, Calvarial hyperostosis, Limbal...	OMIM:176920
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Hyperlipoproteinemia, Type Ii, And Deafness	Corneal arcus	OMIM:144300
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr...	ORPHA:352731
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Ophthalmomandibulomelic Dysplasia	Decreased mobility 3rd-5th fingers, Megalocornea, Opacification of the corneal stroma	OMIM:164900
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Mucolipidosis Iii Alpha/Beta	Craniosynostosis, Hyperopic astigmatism, Opacification of the corneal stroma, Retinopathy, Retina...	OMIM:252600
Mepan Syndrome	Ataxia, Decreased activity of mitochondrial complex IV, Optic atrophy, Decreased activity of mito...	ORPHA:508093
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Cataract, Osteomyelitis, Ataxia, Rod-cone dystrophy, Gai...	ORPHA:88628
Metatropic Dysplasia	Cataract, Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Abnormal co...	ORPHA:2635
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Myopathy, Mitochondrial, And Ataxia	Ataxia, Inability to walk, Dysmetria, Depression, Limb ataxia, Pigmentary retinopathy, Dysdiadoch...	OMIM:617675
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Mulibrey Nanism	Corneal dystrophy, Pigmentary retinopathy, Astigmatism, Iris coloboma, Thickened cortex of long b...	OMIM:253250
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Mucolipidosis Iii Gamma	Opacification of the corneal stroma, Joint stiffness	OMIM:252605
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Ataxia, Rhabdomyolysis, Depression, Pigmentary retinopathy	ORPHA:79095
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster...	OMIM:618173
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Corneal opacity, Congenital diaphragmatic hernia, Inability to walk, Osteolysis invol...	OMIM:166300
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Intermediate Uveitis	Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ...	ORPHA:279914
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Abnormal amplitude of flash visual...	ORPHA:168491
Farber Disease	Skeletal muscle atrophy, Corneal opacity, Flexion contracture, Osteoporosis, Arthritis, Abnormal ...	ORPHA:333
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Sialidosis Type 2	Skeletal muscle atrophy, Ataxia, Corneal opacity, Flexion contracture, Osteoporosis, Abnormal mac...	ORPHA:87876
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Limb joint contracture, Ataxia, Optic atrophy, Athetosis, Pigmentary retinopat...	OMIM:617282
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cryptorchidism, Cataract, Abnormality of retinal pigmentation, Decreased testicular size	ORPHA:3085
Carpenter Syndrome 1	Sagittal craniosynostosis, Cryptorchidism, Optic atrophy, Microcornea, Opacification of the corne...	OMIM:201000
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis	ORPHA:1259
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor...	OMIM:152950
Leigh Syndrome	Emotional lability, Optic atrophy, Ataxia, Pigmentary retinopathy	OMIM:256000
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Tangier Disease	Left ventricular hypertrophy, Facial diplegia, Distal amyotrophy, Opacification of the corneal st...	OMIM:205400
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Broad-based gait, Cataract, Ataxia, Scapular winging, Centrally nucleate...	OMIM:607459
Schimke Immunoosseous Dysplasia	Osteopenia, Waddling gait, Hypermelanotic macule, Bilateral cryptorchidism, Astigmatism, Opacific...	OMIM:242900
Cln5 Disease	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado...	ORPHA:228360
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Muscular Dystrophy, Congenital, Megaconial Type	Waddling gait, Facial palsy, Mitochondrial hypertrophy, Myopathy, Muscular dystrophy, Increased e...	OMIM:602541
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Osteoporosis, Rickets, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy	OMIM:560000
Autosomal Dominant Optic Atrophy Plus Syndrome	Ataxia, Limb-girdle muscle weakness, Optic atrophy, Myopathy, Abnormal retinal nerve fiber layer ...	ORPHA:1215
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Cataract, Corneal opacity	ORPHA:290
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Recurrent fractures, Ricket...	OMIM:268315
Mucopolysaccharidosis, Type Ivb	Joint laxity, Corneal opacity, Ataxia, Joint stiffness, Osteoporosis, Opacification of the cornea...	OMIM:253010
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysphagia, Bradykinesia, Undetectable visual evoke...	OMIM:601338
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Hand muscle weakness, Limb-girdle muscle weakness, Upper limb muscle weakness, Foot dorsiflexor w...	ORPHA:466768
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Spinocerebellar Ataxia Type 1	Abnormal flash visual evoked potentials, Skeletal muscle atrophy, Optic atrophy, Dysmetria, Abnor...	ORPHA:98755
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of r...	ORPHA:79432
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Optic atrophy, Epiphyseal stip...	OMIM:614866
Laurence-Moon Syndrome	Pigmentary retinopathy, Ataxia, Chorioretinal atrophy	OMIM:245800
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Micro Syndrome	Abnormality of retinal pigmentation, Cataract, Joint stiffness, Cryptorchidism, Optic atrophy, Mi...	ORPHA:2510
Desmoid Tumor	Abnormality of retinal pigmentation, Limitation of joint mobility, Osteolysis	ORPHA:873
Olmsted Syndrome 1	Flexion contracture, Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Decreased muscle mass, Ataxia, Hyperpigmentation of the skin, Akinesia, Retinal de...	OMIM:234200
Pyle Disease	Limited elbow extension, Thin bony cortex, Reduced bone mineral density	OMIM:265900
Hurler Syndrome	Corneal opacity, Joint stiffness, Flexion contracture, Cranial hyperostosis, Macroglossia, Opacif...	OMIM:607014
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Joint laxity, Scapular winging, Decreased activity of mitochondrial complex IV, Ragged-red muscle...	OMIM:600462
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Late-Infantile/Juvenile Krabbe Disease	Ataxia, Neuromuscular dysphagia, Upper limb muscle weakness, Irritability, Gait disturbance, Atte...	ORPHA:206443
Cystinosis	Corneal opacity, Rickets, Myopathy, Aminoaciduria, Gait disturbance, Retinopathy, Polydipsia, Abn...	ORPHA:213
Lecithin:Cholesterol Acyltransferase Deficiency	Corneal arcus	OMIM:245900
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph...	ORPHA:2715
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Alpha-Mannosidosis, Adult Form	Osteopenia, Optic disc pallor, Cataract, Corneal opacity, Ataxia, Depression, Macroglossia	ORPHA:309288
Usher Syndrome	Abnormality of retinal pigmentation, Cataract, Ataxia, Depression, Myopathy, Astigmatism	ORPHA:886
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Cranio-Osteoarthropathy	Joint stiffness, Osteoarthritis, Arthritis, Abnormal cortical bone morphology, Mottled pigmentation	ORPHA:1525
Cockayne Syndrome A	Hip contracture, Cataract, Ataxia, Retinal atrophy, Cryptorchidism, Retinal pigment epithelial mo...	OMIM:216400
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:44
Gorham-Stout Disease	Osteopenia, Torticollis, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis...	ORPHA:73
Infantile Neuroaxonal Dystrophy	Hyperactivity, Ataxia, Impulsivity, Flexion contracture, Unsteady gait, Optic atrophy, Gait distu...	ORPHA:35069
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Juvenile cataract	ORPHA:1264
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Ataxia, Hypermelanotic macule, ...	ORPHA:910
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Cutis Laxa, Autosomal Recessive, Type Iiia	Cataract, Cryptorchidism, Athetosis, Corneal arcus, Distal amyotrophy, Joint hypermobility	OMIM:219150
Mucopolysaccharidosis, Type Iva	Joint laxity, Osteoporosis, Opacification of the corneal stroma, Waddling gait	OMIM:253000
Wolfram Syndrome 1	Cataract, Ataxia, Optic atrophy, Pigmentary retinopathy, Dysphagia, Testicular atrophy	OMIM:222300
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr...	ORPHA:897
Cockayne Syndrome B	Ataxia, Cryptorchidism, Limitation of joint mobility, Osteoporosis, Optic atrophy, Ivory epiphyse...	OMIM:133540
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Camptodactyly of finger, Limitation of joint mobility, Radioulnar synostosis, Ab...	ORPHA:2741
Stuve-Wiedemann Syndrome 1	Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Dysphagia...	OMIM:601559
Combined Oxidative Phosphorylation Deficiency 18	Decreased activity of mitochondrial complex I, Skeletal muscle atrophy, Increased mitochondrial n...	OMIM:615578
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Joint hypermobility, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Rheumatoid ...	ORPHA:85410
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility	ORPHA:166277
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Restlessness, Retinal pigment epithelial mottling	OMIM:619517
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Dysph...	ORPHA:352447
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener...	OMIM:611131
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic disc pallor, Abnormal mitochondrial shape, Optic atrophy, Dysphagia, Abnormality of visual ...	ORPHA:485421
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Ataxia	ORPHA:1173
Autoimmune Polyendocrinopathy Type 1	Cataract, Hypopigmented skin patches, Opacification of the corneal stroma	ORPHA:3453
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae, Cryptorchidism	OMIM:601499
Refsum Disease	Abnormality of retinal pigmentation, Skeletal muscle atrophy, Cataract, Ataxia, Retinopathy	ORPHA:773
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Galactosialidosis	Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma	OMIM:256540
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Chromosome Xp11.3 Deletion Syndrome	Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, ...	OMIM:300578
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Broad-based gait, Cataract, Multiple joint contractures, Band keratopathy, Hyperpigme...	ORPHA:2959
Vici Syndrome	Abnormality of retinal pigmentation, Cataract, Joint stiffness, Optic atrophy, Hypopigmentation o...	ORPHA:1493
Werner Syndrome	Abnormality of retinal pigmentation, Increased bone mineral density, Cataract, Skeletal muscle at...	ORPHA:902
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Abnormality of retinal pigmentation, Cataract, Skeletal muscle atrophy...	ORPHA:192
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Limitation of joint mobility, Opacification of the corneal stroma	OMIM:313400
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Beta-alaninuria, Cataract, Retinal pigment epithelial mott...	OMIM:614105
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation, Camptodactyly of finger	ORPHA:2521
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Gait disturbance, Decr...	OMIM:614170
Maternal Uniparental Disomy Of Chromosome 4	Calf muscle pseudohypertrophy, Ataxia, Optic atrophy, Dysmetria, Depression, Pigmentary retinopat...	ORPHA:96180
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Mitochondrial hypertrophy, Loss of ambulation, Skelet...	OMIM:619518
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Abnormal cortical bone morphology, Limitation of joint mobility, Recurre...	ORPHA:1486
Mucolipidosis Ii Alpha/Beta	Osteopenia, Diastasis recti, Craniosynostosis, Limitation of joint mobility, Macroglossia, Tip-to...	OMIM:252500
Galloway-Mowat Syndrome 1	Cataract, Ataxia, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Cam...	OMIM:251300
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Irritab...	OMIM:264700
Grant Syndrome	Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape, Unsteady gait, Macroglossia, Gait disturbance, Dysphagia	ORPHA:412217
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Flexion contracture, Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior syn...	OMIM:613154
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Limb joint contracture, Facial hypotonia, Inability t...	ORPHA:404454
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Recurrent fractures, Anorexia,...	ORPHA:394
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno...	ORPHA:79106
Oculoectodermal Syndrome	Hyperactivity, Hyperpigmented streaks, Chorioretinal atrophy, Microcornea, Astigmatism, Opacifica...	OMIM:600268
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Joint stiffness, Optic atrophy	ORPHA:585
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasi...	OMIM:253280
Mucopolysaccharidosis Type 6	Macroglossia, Opacification of the corneal stroma, Joint stiffness	ORPHA:583
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p...	ORPHA:1067
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:617023
Mucopolysaccharidosis Type 2	Papilledema, Hyperactivity, Abnormality of retinal pigmentation, Corneal opacity, Retinopathy, Im...	ORPHA:580
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Recurrent fractures, Osteoporosis, Reduced bone mineral density, Pigmentary retinopathy, Rod-cone...	ORPHA:2235
Retinitis Pigmentosa 66	Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Abnormality of visual evoked potentials, Skeletal muscle atrophy, Aminoaciduria, Ataxia	ORPHA:1933
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Increased susc...	ORPHA:289157
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, Agitation, D...	ORPHA:100924
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Cataract, Band keratopathy, Reduced bone mineral dens...	ORPHA:79443
Osteogenesis Imperfecta, Type Xxii	Multiple prenatal fractures, Recurrent fractures, Thin bony cortex, Reduced bone mineral density	OMIM:619795
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Pseudo-Torch Syndrome 1	Cataract, Opacification of the corneal stroma	OMIM:251290
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy	OMIM:604278
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c...	OMIM:614195
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Abetalipoproteinemia	Osteopenia, Abnormality of retinal pigmentation, Broad-based gait, Ataxia, Rod-cone dystrophy, Dy...	ORPHA:14
White-Sutton Syndrome	Joint laxity, Waddling gait, Hyperactivity, Facial hypotonia, Optic nerve hypoplasia, Congenital ...	OMIM:616364
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation, Craniosynostosis	ORPHA:1496
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Polydipsia, Ro...	OMIM:615994
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Ataxia, Optic atrophy, Skeletal muscle steatosis, Pigmentary retinopathy, Aminoaciduria, Gait dis...	ORPHA:436271
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic disc pallor, Optic atrophy, Distal amyotrophy, Steppage gait, Abnormality of visual evoked ...	OMIM:601152
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy, Ataxia	OMIM:608629
Xq12-Q13.3 Duplication Syndrome	Optic disc pallor, Cryptorchidism, Bulimia, Agitation, Generalized amyotrophy, Abnormality of vis...	ORPHA:314389
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Mosaic Trisomy 1	Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture, Opacificatio...	ORPHA:1692
Neuromuscular Oculoauditory Syndrome	Chorioretinal lacunae, Retinal pigment epithelial mottling, Unsteady gait, Knee flexion contractu...	OMIM:618733
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Astigmatism, Joint stiffness	ORPHA:1824
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Irritability, Sparse bone trabecul...	OMIM:277440
Aceruloplasminemia	Abnormality of retinal pigmentation, Torticollis, Ataxia, Akinesia, Limb ataxia, Gait ataxia, Mac...	ORPHA:48818
Cockayne Syndrome	Skeletal muscle atrophy, Congenital contracture, Lentiglobus, Progressive gait ataxia, Retinal ar...	ORPHA:191
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Rod-cone dystrophy, Subcapsular cataract, Pigmentary retinopathy	OMIM:268020
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Dystonic gait, Optic atrophy, Limb hypertonia, Astigmatism, Abnormality of visual evoked potentia...	ORPHA:480898
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R...	ORPHA:85167
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Ataxia, Optic atrophy, Pigmentary retinopathy, Aminoaciduria, Increased intramyocellular lipid dr...	OMIM:220110
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Unsteady gait, Distal amyotrophy, Gait disturbance, Abnormality of visual ev...	OMIM:601455
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Mohr-Tranebjaerg Syndrome	Inability to walk, Optic atrophy, Shuffling gait, Attention deficit hyperactivity disorder, Dysph...	ORPHA:52368
Mitochondrial Trifunctional Protein Deficiency	Rhabdomyolysis, Pigmentary retinopathy, Skeletal myopathy, Tip-toe gait, Left ventricular hypertr...	ORPHA:746
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Difficulty...	OMIM:600081
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Abnormal mitochondrial shape, Aggressive behavior, Unsteady gait, Flexio...	ORPHA:17
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Mitochondrial Trifunctional Protein Deficiency 1	Lethargy, Rhabdomyolysis, Myopathy, Pigmentary retinopathy	OMIM:609015
Cerebrotendinous Xanthomatosis	Osteopenia, Optic disc pallor, Ataxia, Optic neuropathy, Aggressive behavior, Abnormal retinal va...	ORPHA:909
Barth Syndrome	Skeletal myopathy, Fair hair, Gait disturbance, Abnormal mitochondrial morphology	OMIM:302060
Pelizaeus-Merzbacher Disease	Ataxia, Joint stiffness, Optic atrophy, Choreoathetosis, Gait disturbance, Abnormality of visual ...	ORPHA:702
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Increased mitochondrial number, Decreased muscle mass, Decreased muscle glycogen content, Upper l...	ORPHA:263297
Knobloch Syndrome 1	Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Ataxia, Band keratop...	OMIM:267750
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Facial hypotonia, Bull's eye ma...	OMIM:216550
Autosomal Recessive Spastic Paraplegia Type 44	Abnormality of visual evoked potentials, Ataxia, Difficulty walking	ORPHA:320401
Blau Syndrome	Cataract, Camptodactyly of finger, Band keratopathy, Synovitis, Tendonitis, Arthritis, Iritis, Fl...	OMIM:186580
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Wagro Syndrome	Cataract, Corneal opacity, Aggressive behavior, Agitation, Low frustration tolerance, Compulsive ...	OMIM:612469
Mucoepithelial Dysplasia, Hereditary	Cataract, Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis	OMIM:158310
Hypercholesterolemia, Familial, 3	Corneal arcus, Tendon xanthomatosis	OMIM:603776
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Hypercholesterolemia, Familial, 1	Corneal arcus, Tendon xanthomatosis	OMIM:143890
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Difficulty...	OMIM:241530
Friedreich Ataxia	Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Mitochondrial malic enzyme reduced, Abnormality ...	OMIM:229300
Cockayne Syndrome Type 1	Cataract, Ataxia, Foot joint contracture, Hypermelanotic macule, Cryptorchidism, Optic atrophy, P...	ORPHA:90321
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cataract, Ataxia, Abnormal mitochondrial shape, Optic atrophy, Gait ataxia	ORPHA:543470
Gm1-Gangliosidosis, Type Ii	Ataxia, Joint stiffness, Optic atrophy, Gait disturbance, Dysphagia, Thin bony cortex	OMIM:230600
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Walker-Warburg Syndrome	Retinal detachment, Skeletal muscle atrophy, Cataract, Corneal opacity, Chorioretinal dysplasia, ...	ORPHA:899
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Skeletal muscle atrophy, Anorexia, Melanocytic nevus, Multip...	ORPHA:1969
Prolidase Deficiency	Abnormality of retinal pigmentation, White forelock, Reduced bone mineral density	ORPHA:742
Neurodegeneration With Brain Iron Accumulation 2A	Abnormality of visual evoked potentials, Optic atrophy, Unsteady gait, Ataxia	OMIM:256600
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Optic disc pallor, Astigmatism	OMIM:617523
Metachromatic Leukodystrophy, Late Infantile Form	Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe gait, Abnormality of visual evoked p...	ORPHA:309256
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Hypopigmented skin patches, Keratoconjunctivitis, Joint hyperflexibility...	ORPHA:2907
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation, Craniosynostosis	ORPHA:2163
H Syndrome	Recurrent fractures, Osteolysis, Azoospermia, Corneal arcus, Camptodactyly, Decreased testicular ...	ORPHA:168569
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Optic atrophy, Astigmatism, Abnormality of visual evoked potentials, Laryngotracheomalacia, Limb ...	OMIM:616875
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Recurrent fractures, Ataxia, Join...	ORPHA:636
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Peroxisomal Acyl-Coa Oxidase Deficiency	Abnormality of visual evoked potentials, Optic atrophy, Gait disturbance	ORPHA:2971
Lathosterolosis	Pathologic fracture, Cataract, Osteoporosis, Opacification of the corneal stroma	OMIM:607330
Melas	Ataxia, Ragged-red muscle fibers, Optic atrophy, Depression, Pigmentary retinopathy, Myopathy, Ga...	ORPHA:550
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy, Pseudob...	OMIM:125310
Hepatic Lipase Deficiency	Corneal arcus	OMIM:614025
Kearns-Sayre Syndrome	Pigmentary retinopathy, Ragged-red muscle fibers, Ataxia	OMIM:530000
Xeroderma Pigmentosum, Complementation Group B	Cataract, Ataxia, Optic atrophy, Pigmentary retinopathy, Freckling	OMIM:610651
Lathosterolosis	Microcornea, Cataract, Opacification of the corneal stroma	ORPHA:46059
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Cataract, Ataxia, Retinal dystrophy, Hyperautofluorescen...	OMIM:209900
Fibrous Dysplasia Of Bone	Thin bony cortex, Cortical irregularity, Antalgic gait, Osteomalacia, Testicular neoplasm, Fibrou...	ORPHA:249
Bartsocas-Papas Syndrome 1	Bilateral cryptorchidism, Flexion contracture, Popliteal pterygium, Opacification of the corneal ...	OMIM:263650
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, Cryptorchidism, Pigmentary retinopathy, Camptodactyly	OMIM:614230
Hypophosphatemic Rickets, X-Linked Recessive	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Lethargy, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Pigmentary retinopathy, Decreased circ...	ORPHA:71212
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Cryptorchidism, Optic atrophy, Abno...	ORPHA:193
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Retinitis Pigmentosa 74	Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Flexion contracture, Macroglossia, Tracheobronc...	OMIM:309900
Joubert Syndrome 8	Optic disc pallor, Ataxia, Pigmentary retinopathy	OMIM:612291
Dent Disease 1	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300009
Oculodentodigital Dysplasia	Cataract, Ataxia, Camptodactyly of finger, Cranial hyperostosis, Optic atrophy, Abnormality iris ...	ORPHA:2710
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Autosomal Recessive Spastic Paraplegia Type 11	Ataxia, Inability to walk, Abnormality of pattern visual evoked potentials, Generalized limb musc...	ORPHA:2822
Alstrom Syndrome	Cone/cone-rod dystrophy, Pigmentary retinopathy, Hyperostosis frontalis interna, Subcapsular cata...	OMIM:203800
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Recurrent fractures, Sclerocornea, ...	OMIM:609465
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Recurrent fractures, Generalized osteoporosis, Joint hypermobility	OMIM:617952
Bardet-Biedl Syndrome	Cryptorchidism, Pigmentary retinopathy, Skeletal muscle atrophy	ORPHA:110
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior	ORPHA:309246
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Trisomy 18	Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Congenital diaphragmatic ...	ORPHA:3380
Weismann-Netter Syndrome	Abnormal cortical bone morphology	ORPHA:3344
Lowry-Wood Syndrome	Elbow flexion contracture, Pigmentary retinopathy, Limited elbow extension	OMIM:226960
Khan-Khan-Katsanis Syndrome	Peters anomaly, Corneal scarring, Buphthalmos, Pigmentary retinopathy, Dysphagia, Joint contracture	OMIM:618460
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi...	ORPHA:85188
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Anorexi...	ORPHA:91500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Retinal dysplasia, Opacification of the corneal stroma, Muscular dystrophy...	OMIM:615287
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Abnormality of visual evoked potentials, Joint contracture, Limb hypertonia	OMIM:614457
Familial Dysautonomia	Corneal opacity, Recurrent fractures, Ataxia, Abnormal pupil morphology, Corneal erosion, Optic a...	ORPHA:1764
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Partial albinism, Anorexia, Ocular albinism, Melanocytic nevu...	ORPHA:79430
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Corneal opacity, Chorioretinal dysplasia, Sclerocornea, Reti...	ORPHA:2556
Histiocytosis-Lymphadenopathy Plus Syndrome	Camptodactyly of finger, Elbow flexion contracture, Azoospermia, Corneal arcus, Joint contracture...	OMIM:602782
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormality of retinal pigmentation, Increased bone mineral density, Skel...	ORPHA:79474
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Joint stiffness, Inability to walk, Flexion contracture, Opt...	ORPHA:505248
Proximal Renal Tubular Acidosis	Cataract, Band keratopathy, Reduced bone mineral density, Aminoaciduria, Polydipsia	ORPHA:47159
Metachromatic Leukodystrophy, Juvenile Form	Abnormality of visual evoked potentials, Emotional lability, Progressive gait ataxia, Optic atrophy	ORPHA:309263
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cataract, Keratoconjunctivitis, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy,...	OMIM:240300
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscle fiber atrophy, Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Fle...	ORPHA:258
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Abnormality of retinal pigmentation, Cataract, Block vertebrae, Tarsal synostos...	OMIM:272460
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the abd...	ORPHA:175
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex	OMIM:619638
Retinoblastoma	Abnormality of retinal pigmentation, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, ...	ORPHA:790
Spondyloocular Syndrome	Osteopenia, Retinal detachment, Cataract, Unilateral cryptorchidism, Posterior subcapsular catara...	OMIM:605822
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Optic disc pallor, Cataract, Corneal opacity, Ataxia, Craniosynostosis,...	ORPHA:309282
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Ragged-red muscle fibers, Optic atrophy, Gait ataxia, Pigmentary retinopathy, Dysphagia, ...	ORPHA:255210
Melnick-Needles Syndrome	Joint hyperflexibility, Abnormal cortical bone morphology, Craniofacial hyperostosis, Osteolytic ...	ORPHA:2484
Infantile Krabbe Disease	Optic atrophy, Hypopigmented skin patches, Irritability, Shoulder girdle muscle weakness, Abnorma...	ORPHA:206436
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Fryns Syndrome	Cryptorchidism, Aplasia of the left hemidiaphragm, Opacification of the corneal stroma, Camptodac...	OMIM:229850
Hypercholesterolemia, Familial, 2	Corneal arcus	OMIM:144010
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Achalasia-Addisonianism-Alacrima Syndrome	Ataxia, Optic atrophy, Anisocoria, Abnormality of visual evoked potentials, Hyperpigmentation of ...	OMIM:231550
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Depression, Progressive gait ataxia, Difficulty walking, Abnormality of visual evo...	ORPHA:309271
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Ataxia, Inability to walk, Large c...	ORPHA:167
Dysbetalipoproteinemia	Corneal arcus, Tendon xanthomatosis, Gout	ORPHA:412
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Broad-based gait, Decreased muscle mass, Recurrent fract...	OMIM:309583
Dent Disease	Cataract, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bon...	ORPHA:1652
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	ORPHA:2526
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape	OMIM:610773
Gaucher Disease, Type Iiic	Opacification of the corneal stroma	OMIM:231005
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Lethargy, Homocystinuria, Pigmentary retinopathy, Cystathioninuria	OMIM:277400
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Camptodactyly of finger, Abnor...	ORPHA:217085
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Ruvalcaba Syndrome	Abnormality of visual evoked potentials, Cryptorchidism, Hypopigmented skin patches, Synostosis o...	ORPHA:3121
Noonan Syndrome 9	Cryptorchidism, Prominent corneal nerve fibers	OMIM:616559
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Camptodactyly of finger, Abnor...	ORPHA:217093
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormality of visual evoked potentials	ORPHA:1389
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Congenital diaphragmatic hernia, Pigmentary retinopathy, Peters anomaly, ...	OMIM:309801
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Mitochondrial swelling	OMIM:615595
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Cataract, Macroorchidism, Generalized...	ORPHA:744
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Corneal opacity, Recurrent fractures, ...	ORPHA:355
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology	OMIM:614886
Alagille Syndrome 1	Cataract, Band keratopathy, Abnormal anterior chamber morphology, Chorioretinal atrophy, Microcor...	OMIM:118450
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Developmental And Epileptic Encephalopathy 3	Abnormality of visual evoked potentials	OMIM:609304
Pachydermoperiostosis	Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, Abnormal cortic...	ORPHA:2796
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Optic disc coloboma, Op...	ORPHA:50
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentat...	ORPHA:79282
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Joint stiffness, Microspherophakia, Elbow ...	OMIM:608328
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Camptodactyly of finger, Flexion contracture, Elbow flexion contracture,...	OMIM:256040
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ...	ORPHA:3206
Osteogenesis Imperfecta	Osteopenia, Corneal opacity, Recurrent fractures, Ataxia, Fractures of the long bones, Osteoarthr...	ORPHA:666
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Facial palsy, Cryptorchidism, Cranial hyperostosis, Limitation of...	ORPHA:2658
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Hyperactivity, Rhabdomyosarcoma, Retinal pigment epithelial mottling...	OMIM:251260
Weill-Marchesani Syndrome 1	Cataract, Joint stiffness, Ectopia lentis, Microspherophakia, Shallow anterior chamber, Thin bony...	OMIM:277600
Metachromatic Leukodystrophy	Ataxia, Tip-toe gait, Gait disturbance, Abnormality of visual evoked potentials, Emotional labili...	ORPHA:512
Sitosterolemia 1	Arthritis, Corneal arcus	OMIM:210250
Frank-Ter Haar Syndrome	Osteopenia, Developmental glaucoma, Osteoporosis, Buphthalmos, Camptodactyly, Megalocornea, Cafe-...	OMIM:249420
Mitochondrial Complex I Deficiency, Nuclear Type 29	Decreased activity of mitochondrial complex I, Mitochondrial swelling	OMIM:618250
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Keratoconjunctivitis, Band keratopathy	OMIM:269200
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Pearson Syndrome	Cataract, Ataxia, Corneal stromal edema, Pigmentary retinopathy, Dysphagia, Cafe-au-lait spot, Hy...	ORPHA:699
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Ankle flexion contracture, Craniosynostosis, Cryptorchidism, Elbow fle...	OMIM:268300
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Fumarase Deficiency	Conjunctival icterus, Aminoaciduria, Mitochondrial swelling, Optic atrophy	OMIM:606812
Lipodystrophy, Familial Partial, Type 7	Cataract, Dysmetria, Gait ataxia, Developmental cataract, Pigmentary retinopathy, Dysdiadochokine...	OMIM:606721
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Generalized joint laxity, Decreased calvarial ossification, Thin bony c...	OMIM:613848
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy, Juvenile rheumatoid arthritis, Axenfeld anomaly	OMIM:266270
Noonan Syndrome 10	Prominent corneal nerve fibers, Cryptorchidism, Left ventricular hypertrophy, Cafe-au-lait spot, ...	OMIM:616564
Mogs-Cdg	Left ventricular hypertrophy, Optic atrophy, Hydrocele testis, Abnormality of visual evoked poten...	ORPHA:79330
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Cataract, Corneal opacity, Camptodactyly of finger, Ataxia, Optic disc hypoplasia, Cr...	ORPHA:3455
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Keratitis, Cryptorchidism, Opacification of the corneal stroma, Recurrent corneal erosions, Corne...	OMIM:308205
Craniotubular Dysplasia, Ikegawa Type	Optic neuropathy, Optic atrophy, Sclerosis of skull base, Optic nerve compression, Thin bony cort...	OMIM:619727
Familial Osteodysplasia, Anderson Type	Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures	ORPHA:2769
Hardikar Syndrome	Irritability, Osteoporosis, Pigmentary retinopathy	OMIM:301068
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Abnormality o...	ORPHA:667
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Hyperactivity, Cataract, Impulsivity, Aggressive behavior, Abnormal fear-induced be...	ORPHA:353281
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Tracheomalacia, Osteoporosis, Ataxia, Abnormality of visual evoked potentials	OMIM:203700
Aspartylglucosaminuria	Aspartylglucosaminuria, Joint stiffness, Arthritis, Macroglossia, Macroorchidism, Abnormal cortic...	ORPHA:93
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Thin bony cortex	OMIM:613658
Cancer-Associated Retinopathy	Optic disc pallor, Retinal pigment epithelial atrophy, Retinal atrophy, Testicular neoplasm, Fove...	ORPHA:71505
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Joint laxity, Hyperactivity, Cataract, Impulsivity, Aggressive behavior, Abnormal fear-induced be...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Joint laxity, Hyperactivity, Cataract, Impulsivity, Aggressive behavior, Abnormal fear-induced be...	ORPHA:353277
Multiple Endocrine Neoplasia Type 2	Joint laxity, Prominent corneal nerve fibers, Proximal amyotrophy	ORPHA:653
Faciocardiomelic Syndrome	Osteopenia, Thin bony cortex	OMIM:612731

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 Ctns

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 Ctns.

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

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
Ctns^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Ctns^{tm333(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ctns^{tm333(L1L2_st1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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